Home - Annals of Translational Medicine

Testimonials for ATM from Eminent Experts Worldwide

ATM has received over 35 supporting letters from prominent experts worldwide, who are editorial board members, guest editors, authors and readers knowing ATM well. We are sincerely grateful for their approval and vigorous support to the journal. The editorial office will keep moving on to build ATM a robust academic platform in near future. Below abstracts some parts from their supporting letters.

Welcome to join us on IASLC 18th World Conference on Lung Cancer

The 18th World Conference on Lung Cancer(WCLC) of the International Association for the Study of Lung Cancer (IASLC) will take place from October 15 – 18, 2017, in Yokohama, Japan.

Focus on “Mesothelioma” guest edited by Drs. Andrea S. Wolf and Raja M. Flores

This special issue of the Annals of Translational Medicine details an in-depth description of the most relevant topics on malignant pleural mesothelioma (MPM). The discussions include fascinating discoveries that deepened our understanding of the environmental and genetic exposures that cause this aggressive disease, reviews of traditional and novel approaches to staging it, and the complex multimodality therapies that have improved outcomes from no long-term survival to 15–24% 5-year-survival with treatment. Up-to-date reviews of radiation therapy are presented, including the latest results and commentary on induction radiation and hemithoracic radiation after pleurectomy/decortication (P/D)...

Focus on “Capsule Endoscopy” guest edited by Drs. Anastasios Koulaouzidis and Mark E. McAlindon

In this issue devoted to small bowel capsule endoscopy, we reflect on how far we have come since the first models were introduced and what future practice might look like. Contributions also include reviews of small bowel bleeding and coeliac disease, two of the commonest indications for capsule endoscopy, articles on capsule retention and a perspective of one nation's experience in the field.

Impact of sleep apnea on in-hospital outcomes after transcatheter aortic valve replacement: insight from National Inpatient Sample database 2011–2014

Sleep apnea is associated with worse outcomes following various kinds of surgeries. There is a paucity of data on the association of sleep apnea with clinical outcomes after transcatheter aortic valve replacement (TAVR).

MDA5 autoantibody—another indicator of clinical diversity in dermatomyositis

Allenbach and colleagues have recently reported for the first time the results of an intriguing study of the histopathologic, immunopathologic and gene expression differences in muscle biopsy tissue from adult dermatomyositis (DM) patients who do and do not have circulating MDA5 autoantibodies (anti-MDA5). Anti-MDA5 were originally identified in a clinically-defined subset of DM patients whose disease was expressed predominately in the skin for unusually long periods of time without accompanying muscle weakness [i.e., “clinically-amyopathic DM” (CADM)] and were at risk for acute, rapidly-progressive form of interstitial lung disease (ILD)...

Message from the APCHG 2017 Organizing Committee

Dear friends/delegates,

Greetings from the Organizing Committee of the 12th Asia-Pacific Conference on Human Genetics (APCHG 2017).

On behalf of the local organizing committee, we are pleased to invite you to participate in the 12th Asia-Pacific Conference on Human Genetics (APCHG 2017) to be held from November 8 (Wednesday) -10 (Friday), 2017 at the Royal Orchid Sheraton Hotel & Towers in Bangkok, Thailand.

Welcome to the Ninth Postgraduate Course on “Surgery of The Thoracic Aorta”!

The Ninth Postgraduate Course on “Surgery of The Thoracic Aorta” is going to take place in Bologna from 13th to 14th November 2017.

This interactive meeting will focus on open, hybrid, transcatheter and endovascular techniques employed during operations on the thoracic aorta.

2016 Annual Report of ATM

Greetings from Profs. Jianxing He, Rafael Rosell, Xuehao Wang, and Editorial Office of ATM！

We are glad to present the 2016 Annual Report of ATM here. In 2016, ATM progressed fast and smoothly under the join-efforts of experts worldwide. The total citation number has significantly increased from 309 in January to 1294 in December. The journal was exhibited in some international meetings, to attract wider attention and exposure. More information is shown in the Annual Report.

We would like to express sincere appreciation for the enthusiastic and vigorous support and contributions from all board members, guest editors, reviewers, authors, readers, etc. We wish you a happy, healthy and prosperous 2017! Read More>>

Testimonials for ATM from Eminent Experts Worldwide

In less than two months, ATM has received about 30 supporting letters from the prominent experts worldwide, who are editorial board members, authors and readers knowing ATM well. This is encouraging. We are grateful for their vigorous support to the journal.

Below abstracts some parts from their supporting letters.

Asian Society of Thoracic Surgery (ASTS) was officially launched: collaborate across Asia and the world

On July 31, the 2^nd Consultative Meeting on Asian Cooperation in Thoracic Surgery was successfully held in Beijing. The panel for the meeting include Prof. Jie He (Chairman & Host), the President of Cancer Hospital Chinese Academy of Medical Sciences and Director of National Cancer Center of China, Academician of Chinese Academcy of Sciences; Prof. Alan Sihoe (Moderator) from University of Hong Kong; Prof. Jose Luis Danguilan, Prof. Shugeng Gao, Porf. Diego Gonzalez-Rivas, Prof. Jheon Sanghoon, Prof. Ali Zamir Khan, Prof. Lee Jang-Ming, Prof. Toriaki Morikawa, Prof. Meinoshin Okumura, Prof. Punnarerk Thongcharoen and Mr. Stephen Wang.

‹ ›

Vol 5, No 2 (September, 2017)

About atm

Manuscript Submission

Advertising

Contact us

General editorial enquiries:
Email: editor@atmjournal.org
Copyright related contact:
Email: permissions@amegroups.com
Commercial Sales contact (Reprints, advertising, etc.):
Email: sales@amegroups.com

Focused Issues more

Focus on “Capsule Endoscopy” More >>

Focus on “Mesothelioma” More >>

Focus on “The Human Microbiome in Urologic Health and Disease” More >>

Endorsement

Annals of Translational Medicine is endorsed by the Bonnie J. Addario Lung Cancer Foundation (ALCF), the Ming-Yi Medical Charity Foundation of Guangdong Province, the international Inspire2Live Patient Advocates organization, and the Hellenic Cooperative Oncology Group.

the Brazilian Society of Thoracic Surgery(SBCT)

the Bonnie J. Addario Lung Cancer Foundation (ALCF)

Newborn Screening, Inborn Errors of Metabolism

AB001. Methylmalonic and propionic acidemias: comparative outcomes between liver transplantation versus non-liver transplantation groups

Tzu-Hung Chu, Dau-Ming Niu

PDF ABSTRACT

Clinical Genetics

AB002. Human genetics at the National Research Centre in Egypt: history, achievements and challenges

Mona El Gammal, Mona Aglan, Samia Temtamy

PDF ABSTRACT

Newborn Screening, Inborn Errors of Metabolism

AB003. Prevalence of copy number and structural variants across Mendelian disorders

Swaroop Aradhya, Rebecca Truty

PDF ABSTRACT

Genetic Counseling and Education

AB004. Genetic diagnosis and experiences in management of disorders of sex development in Indonesia

Sultana MH Faradz, Nurin Aisyiyah Listyasari, Achmad Zulfa Juniarto

PDF ABSTRACT

Prenatal Genetics, Reproductive Genetics

AB006. Chromosome analysis in placenta with fetal anomaly

Akane Kondo, Shizue Nambara, Tomomi Iba, Chika Fukano, Daichi Nakaoku, Kazumi Takahashi, Mikio Yamasaki, Mikio Morine, Kazuhisa Maeda

PDF ABSTRACT

Population Genetics, Genetic Epidemiology, Statistics, Bioinformatics

AB007. Search of signals for cold adaptation in native populations of Siberia by whole exome sequencing

Vadim Stepanov, Kseniya Vagaitseva, Anna Bocharova, Vladimir Kharkov

PDF ABSTRACT

Therapeutic Methods, Treatment of Genetic Diseases

AB008. Bifunctional antibody as a surrogate molecular linker for the treatment of alpha-dystroglycan related muscular dystrophies

Seng H. Cheng, Yunxiang Zhu

PDF ABSTRACT

Newborn Screening, Inborn Errors of Metabolism

AB009. Biochemical and molecular research on lysosomal storage disorders in Thai patients

Lukana Ngiwsara, Jisnuson Svasti, James Cairns, Voraratt Champattanachai, Nithiwat Vatanavicharn, Pornswan Wasant, Chulaluck Kuptanon, Duangrurdee Wattanasirichaigoon

PDF ABSTRACT

Clinical Genetics

AB010. Aberrant behavior profile of fragile X syndrome in medically underserved population

Tri Winarni, Tanjung Sumekar, Widodo Sardjana, Hardian Hardian, Sultana MH Faradz

PDF ABSTRACT

Molecular Genetics, Genomics, Mechanisms of Diseases

AB011. Genetic basis of intellectual disability in consanguineous families from Jordan

Tawfiq Froukh, Rami Abou Jamra, Erin Heinzen, David Goldstein, Olaf Riess, Rebecca Buchert

PDF ABSTRACT

Complex Genetic Disorders, Genetic Susceptibility to Infections

AB012. Impact of down-regulated SK3 expressions in Hirschsprung’s disease patients following pull-through surgery

. Gunadi, Mukhamad Sunardi, Alvin Kalim, Andi Dwihantoro

PDF ABSTRACT

Prenatal Genetics, Reproductive Genetics

AB013. Distribution of azoospermia factor microdeletions in Indonesian infertile males

Achmad Zulfa Juniarto, Nurin Aisyiyah Listyasari, Sultana MH Faradz

PDF ABSTRACT

Newborn Screening, Inborn Errors of Metabolism

AB014. Beta-ketothiolase deficiency: phenotype, genotype and outcome of 48 Vietnamese patients

Khanh Ngoc Nguyen, Hoan Thi Nguyen, Ngoc Thi Bic Can, Mai Thi Thanh Do, Thao Phuong Bui, Toshiyuki Fukao, Dung Chi Vu

PDF ABSTRACT

Birth Defects, Dysmorphology, Skeletal Dysplasia, Craniofacial Anomalies

AB015. Study on pericentric inversion of chromosome 9 and congenital abnormalities in children

Lieu Thi Le, Nhung Thi Hong Dinh, Moc Thi Thanh Hoang, Nga Thi Tran, Lan Thuy An, Quang Dinh Vu, Ngoc Diem Ngo, Hai Thanh Le

PDF ABSTRACT

Clinical Genetics

AB016. A new model of provision of clinical genetics service

Stephen T. S. Lam

PDF ABSTRACT

Newborn Screening, Inborn Errors of Metabolism

AB017. Gene panel study for target metabolic diseases of newborn screening in Japan

Hideo Sasai, Ryoji Fujiki, Osamu Ohara, Yoko Nakajima, Tetsuya Ito, Masahisa Kobayashi, Go Tajima, Osamu Sakamoto, Shiro Matsumoto, Kimitoshi Nakamura, Takashi Hamazaki, Yuki Hasegawa, Hironori Kobayashi, Toshiyuki Fukao

PDF ABSTRACT

Clinical Genetics

AB018. Hospitalization of adults with Down syndrome: lesson from a 10-year experience from a community hospital

Jirat Chenbhanich, Thomas Treadwell

PDF ABSTRACT

Clinical Genetics

AB019. Clinical chromosomal microarray analysis in Singapore

Breana Cham, Angeline Lai

PDF ABSTRACT

Birth Defects, Dysmorphology, Skeletal Dysplasia, Craniofacial Anomalies

AB020. Chromosome rearrangement in patients with 46,XY disorders of sex development

Dung Chi Vu, Khanh Ngoc Nguyen, Ngoc Bich Can, Thao Phuong Bui, Maki Fukami

PDF ABSTRACT

Clinical Genetics

AB021. An observational study to identify keratin 5 and 14 mutations in patients with epidermolysis bullosa simplex in MacKay Memorial Hospital, Taipei, Taiwan

You-Hsin Huang, Shuan-Pei Lin, Yu-Hung Wu

PDF ABSTRACT

Genetic Counseling and Education

AB022. External quality assessment of clinical genetics: from pilot assessment to full external quality assurance scheme

Rosalind Hastings, Conny van Ravenswaaij-Arts, Christi van Asperen, Borut Peterlin, Livia Garavelli

PDF ABSTRACT

Therapeutic Methods, Treatment of Genetic Diseases

AB023. Evaluation the outcome of β-thalassemia intermedia patients on hydroxyurea combined with erythropoietin at National Children’s Hospital

Huong Nguyen, Ha Nguyen

PDF ABSTRACT

Clinical Genetics

AB024. Etiology of recognizable or unclassified overgrowth syndrome

Chong Kun, Yoo-Mi Kim

PDF ABSTRACT

Molecular Genetics, Genomics, Mechanisms of Diseases

AB025. PDGFRA gene polymorphism and corneal curvature in Indonesian people with astigmatism

Mitayani Purwoko, Indri Ramayanti, Hasmeinah Roesad

PDF ABSTRACT

Complex Genetic Disorders, Genetic Susceptibility to Infections

AB026. Genetic variation in CYP2C8, CYP2C9 and CYP2C19 and the risk of coronary artery disease

Alexey Polonikov, Svetlana Sirotina, Marina Bykanova, Anna Bocharova, Vadim Stepanov, Maria Solodilova

PDF ABSTRACT

Complex Genetic Disorders, Genetic Susceptibility to Infections

AB027. Promoter polymorphism rs9332978 in the CYP4A11 gene is a novel susceptibility marker for coronary heart disease

Maria Solodilova, Irina Ponomarenko, Marina Bykanova, Kseniya Vagaytseva, Vadim Stepanov, Alexey Polonikov

PDF ABSTRACT

Newborn Screening, Inborn Errors of Metabolism

AB028. Very early treatment for infantile-onset Pompe disease contributes to better outcomes: 10-year experience in one institute

Chia-Feng Yang, Tzu-Hung Chu, Ling-Yi Huang, Hsuan-Chieh Liao, Wen-Jue Soong, Dau-Ming Niu

PDF ABSTRACT

Clinical Genetics

AB029. Rare condition of hepatic Gaucheroma in a type I Gaucher patient with enzyme replacement therapy

Szu Yin Tseng, Chia Feng Yang, Chu Tzu Hung, Chuan-Chi Chiang, Hui-Chen Ho, Dau-Ming Niu

PDF ABSTRACT

Birth Defects, Dysmorphology, Skeletal Dysplasia, Craniofacial Anomalies

AB030. Study of bone turnover markers and treatment monitoring in osteogenesis imperfecta

Amr Gouda, Samia Temtamy, Ola Ali, Walaa Nazim, Mona Aglan, Ghada Otaify

PDF ABSTRACT

Clinical Genetics

AB031. Disorders of sex development: a clinical profile from Palembang, Indonesia

Ziske Maritska, Siti Rokoyah, Rezkylia Sakti, Nyayu Fauziah Zen, Lusia Hayati, Aditiawati Aditiawati

PDF ABSTRACT

Prenatal Genetics, Reproductive Genetics

AB032. Cytokines gene polymorphism in pregnant women at a risk of preeclampsia

Madhavi Puppala, Lakshmi Kalpana Veerathu, Anuradha Argi, Sudhakar Godi, Sunil Kumar Polipalli

PDF ABSTRACT

Cancer Genetics

AB033. The role in cancer-related DNA damage repair of RNF43

Tassanee Lerksuthirat, Rakkreat Wikiniyadhanee, Wasana Stitchantrakul, Sermsiri Chitphuk, Donniphat Dejsuphong

PDF ABSTRACT

Population Genetics, Genetic Epidemiology, Statistics, Bioinformatics

AB034. Carrier frequency of inherited genetic disorders in Thai population: implication for designing expanded carrier screening panel

Sommon Klumsathian, Woramon Lorlipiwong, Nareenart Iemwimangsa, Insee Sensorn, Bhakbhoom Panthan, Takol Chareonsirisuthigul, Objoon Trachoo, Wasun Chantratita

PDF ABSTRACT

Ethics, Legal and Social Issues

AB035. Patients and informal caregivers handling health conditions

Sofia Oliveira, Vania Francisco, Pedro Oliveira

PDF ABSTRACT

Clinical Genetics

AB036. Cardiac features in Taiwanese patients with mucopolysaccharidosis IVA

Hsiang-Yu Lin, Shuan-Pei Lin, Ming-Ren Chen, Chih-Kuang Chuang, Shan-Miao Lin, Chung-Lieh Hung, Dau-Ming Niu

PDF ABSTRACT

Birth Defects, Dysmorphology, Skeletal Dysplasia, Craniofacial Anomalies

AB037. The first case of Beare-Stevenson cutis gyrata syndrome with an FGFR2 gene mutation (Tyr375Cys) in Thailand

Khunton Wichajarn, Pakaphan Kiatchoosakul, Ratana Komwilaisak

PDF ABSTRACT

Newborn Screening, Inborn Errors of Metabolism

AB038. The biochemical and genetic analyses of biotinidase deficiency in the population of Taiwan

Tzu-Min Huang, Li-Chu Chen, Li-Shin Chen, Shi-Ping Chou, Shis-Chuan Tseng, Ni-Chung Lee

PDF ABSTRACT

Clinical Genetics

AB039. Abnormal thyroid function in Prader-Willi syndrome

Kornkamol Holsakul, Khunton Wichajarn

PDF ABSTRACT

Clinical Genetics

AB040. Preliminary study of chimerism detection in allogeneic hematopoietic stem cell transplantation using massively parallel sequencing

Tikumphorn Sathirapatya, Poonyapat Sukawutthiya, Kornkiat Vongpaisarnsin

PDF ABSTRACT

Newborn Screening, Inborn Errors of Metabolism

AB041. Establishment of age specific reference intervals of neonatal thyroid stimulating hormone in Pakistani population: experience at a tertiary care center

Sibtain Ahmed, Lena Jafri, Aysha Habib Khan, Imran Siddiqui, Hafsa Majid, Farooq Ghani

PDF

Prenatal Genetics, Reproductive Genetics

AB042. Prenatal genetic counseling in the Philippine setting: a case series

Barbra Charina Cavan, Antoinette Mendoza, Girlie Veloso

PDF ABSTRACT

Therapeutic Methods, Treatment of Genetic Diseases

AB043. Correction of the GLA IVS4+919 G>A mutation with CRISPR/Cas9 deletion strategy in fibroblasts of Fabry disease

Sheng-Kai Chang, Yung-Hsiu Lu, Yun-Ru Chen, Yu-Ping Hsieh, Wei-Jou Lin, Ting-Rong Hsu, Dau-Ming Niu

PDF ABSTRACT

Prenatal Genetics, Reproductive Genetics

AB044. Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Mai Thi Phuong Nguyen, Mai Nguyen

PDF ABSTRACT

Birth Defects, Dysmorphology, Skeletal Dysplasia, Craniofacial Anomalies

AB045. Studying the probabilities of Down syndrome recognition in Thai children using de-identified computer-aided facial features analysis

Nattariya Vorravanpreecha, Tanayoot Lertboonnum, Rungrote Rodjanadit, Pak Sriplienchan, Kitiwan Rojnueangnit

PDF ABSTRACT

Birth Defects, Dysmorphology, Skeletal Dysplasia, Craniofacial Anomalies

AB046. Russell-Silver syndrome: a case report and brief review of the literature

Ana Fernandez-Ibanez, Rodrigo Ugalde-Herra, Carolina Carneiro-Martinez, Lara Verdejo-Rodriguez, Elena Anon-Alvarez

PDF ABSTRACT

Clinical Genetics

AB047. Clinical ocular manifestations of Taiwanese patients with mucopolysaccharidoses VI (Maroteaux-Lamy syndrome): a single institution experience

Hsu-Ying Lin, You-Hsin Huang, Shuan-Pei Lin, Shao-Yu Lei

PDF ABSTRACT

Newborn Screening, Inborn Errors of Metabolism

AB048. Maternal and neonatal factors associated with transient neonatal hyperthyrotropinemia: Indian context

Ritika Garg, Seema Kapoor

PDF ABSTRACT

Newborn Screening, Inborn Errors of Metabolism

AB049. Diagnosis and treatment of phenylketonuria in Taiwan- experience from a national newborn screening confirmatory center

Chih-Ya Cheng, Ting-Rong Hsu, Chia-Feng Yang, Tzu-Hung Chu, Yung-Hsiu Lu, Sheng-Kai Chang, Dau-Ming Niu

PDF ABSTRACT

Population Genetics, Genetic Epidemiology, Statistics, Bioinformatics

AB050. Later onset Fabry disease, cardiac damage progress in silence-experience with a highly prevalent mutation

Dau-Ming Niu, Ting-Rong Hsu, Sheng-Che Hung, Fu-Pang Chang, Wen-Chung Yu, Shih-Hsien Sung, Chia-Lin Hsu, Robert J. Desnick

PDF ABSTRACT

Molecular Genetics, Genomics, Mechanisms of Diseases

AB051. Chromosomal microarray analysis in a large cohort of Thai patients with autism spectrum disorder

Juthamas Worachotekamjorn, Tippawan Hansakunachai, Kitiwan Rojnueangnit, Rawiwan Roongpraiwan, Nichara Ruangdaraganon, Duangrurdee Wattanasirichaigoon, Natini Jinawath, Pornprot Limprasert

PDF ABSTRACT

Clinical Genetics

AB052. Application of facial dysmorphology analysis technology (Face2gene) in Korean rare genetic diseases

Dae-Hyun Jang

PDF ABSTRACT

Complex Genetic Disorders, Genetic Susceptibility to Infections

AB053. NRG1 rare variant effects in Hirschsprung disease patients

. Gunadi, Nova Budi, Kristy Iskandar, Indra Adrianto

PDF ABSTRACT

Newborn Screening, Inborn Errors of Metabolism

AB054. Experiences during newborn screening for glutaric aciduria type 1: diagnosis, treatment, genotype, phenotype and outcomes

Shih-Hong Khoo, Fang-Chih Tsai, An-Guor Wang, Yung-Hsiu Lu, Tzu-Hung Chu, Chia-Feng Yang, Ting-Rong Hsu, Chih-Jou Lai, Dau-Ming Niu

PDF ABSTRACT

Clinical Genetics

AB055. HADHB mutations in a child with suspected metabolic myopathy

Jin Sook Lee, Jong-Hee Chae

PDF ABSTRACT

Newborn Screening, Inborn Errors of Metabolism

AB056. Biochemical and molecular investigation of patients with methylmalonic acidemia in Thailand

Phannee Sawangareetrakul, Voraratt Champattanachai, James R. Ketudat Cairns

PDF ABSTRACT

Newborn Screening, Inborn Errors of Metabolism

AB057. Inborn error of metabolism screening: timeliness and clinical service outcomes in Singapore

James Lim, Sherry Poh, Ee Shien Tan

PDF ABSTRACT

Clinical Genetics

AB058. Prader-Willi syndrome: clinical and genetic features

Lan An Thuy

PDF ABSTRACT

Newborn Screening, Inborn Errors of Metabolism

AB059. Clinical, biochemical, and molecular features of Thai patients with multiple acyl-CoA dehydrogenase deficiency

Nithiwat Vatanavicharn, Somporn Liammongkolkul, Boonchai Boonyawat, Achara Sathienkijkanchai, Pornswan Wasant, Seiji Yamaguchi

PDF ABSTRACT

Clinical Genetics

AB060. A family with three children of rare intellectual disability syndrome

Tiar Pratamawati, Nydia Sihombing, Donny Nauphar, Sultana MH Faradz

PDF ABSTRACT

Clinical Genetics

AB061. Prevalence of 22q11.2 deletion syndrome in patients with congenital heart diseases in North-eastern Thailand

Panuwat Srichaisawat, Khunton Wichajarn, Arnkisa Chaikitpinyo, Manat Panamonta, Jureeporn Kampan

PDF ABSTRACT

Newborn Screening, Inborn Errors of Metabolism

AB062. DNA damage is associated with infantile-pediatric cases of mitochondrial disorders: a pilot study from North India

Somesh Kumar, Arun Kumar, Mohammed Faruq, Seema Kapoor

PDF ABSTRACT

Therapeutic Methods, Treatment of Genetic Diseases

AB063. Development of a fusion protein combined alpha-galactosidase A and insulin-like growth factor 2 for treatment of Fabry disease

Yun-Ru Chen

PDF ABSTRACT

Cancer Genetics

AB064. TRIM29: a novel gene involved in DNA repair mechanisms

Rakkreat Wikiniyadhanee, Tassanee Lerksuthirat, Wasana Stitchantrakul, Sermsiri Chitphuk, Donniphat Dejsuphong

PDF ABSTRACT

Genetic Counselling and Education

AB065. Genetic testing and counseling in family with late onset autosomal dominant spinocerebellar ataxia

Nurin Aisyiyah Listyasari, Nydia Rena Benita Sihombing, Tri Indah Winarni, Maria Belladona, Sultana MH Faradz

PDF ABSTRACT

Molecular Genetics, Genomics, Mechanisms of Diseases

AB066. The association between GATA1 mutations in Down syndrome newborns and transient abnormal myelopoiesis

Kanokporn Chukua, Chayanont Netsawang, Kittipoom Padungthai, Thanitchet Khetkham, Pacharapan Surapolchai, Kitiwan Rojnueangnit

PDF ABSTRACT

Newborn Screening, Inborn Errors of Metabolism

AB067. X-linked adrenoleukodystrophy: Phenotype and genotype in Vietnamese patients

Khanh Ngoc Nguyen, Ha Thu Nguyen, Ngoc Thi Bich Can, Thao Phuong Bui, Shimozawa Nobuyuki, Huynh Anh Vu, Mai Thi Thanh Do, Dung Chi Vu

PDF ABSTRACT

Molecular Genetics, Genomics, Mechanisms of Diseases

AB068. Characteristic of ATP7B gene mutation in Vietnamese Wilson’s disease patients and presymptomatic diagnosis for their siblings

Huong M.T. Nguyen, Hoa A. P. Nguyen, Mai P. T. Nguyen, Chi V. Phan, Van T. Ta, Ngoc D. Ngo

PDF ABSTRACT

Population Genetics, Genetic Epidemiology, Statistics, Bioinformatics

AB069. Proficiency of data interpretation: identification of signaling single nucleotides polymorphism for coronary artery disease

Asma Cheema, Samantha Rosenthal, M. Ilyas Kamboh

PDF ABSTRACT

Complex Genetic Disorders, Genetic Susceptibility to Infections

AB070. Association of genome-wide significant single-nucleotide polymorphisms with coronary artery disease in Pakistani population: a case-control study

Asma Cheema, Dilek Pirim, Xinxing Wang, F. Yesim Demirci, M. Ilyas Kamboh

PDF ABSTRACT

Complex Genetic Disorders, Genetic Susceptibility to Infections

AB071. Semaphorin 3D impact in Indonesian Hirschsprung patients

Kristy Iskandar, Mukhamad Sunardi, . Gunadi

PDF ABSTRACT

Complex Genetic Disorders, Genetic Susceptibility to Infections

AB072. Double aneuploidy of Down-Turner syndrome and Down-Klinefelter syndrome: case report and review

Moc Thi Thanh Hoang, Nhung Thi Hong Dinh, Nga Thi Tran, Lan Thuy An, Quang Dinh Vu, Huy Xuan Nguyen, Ngoc Diem Ngo, Hai Thanh Le

PDF ABSTRACT

Newborn Screening, Inborn Errors of Metabolism

AB073. Classic infantile-onset Pompe disease: phenotypes and outcomes of 5 Vietnamese patients receiving enzyme replacement therapy

Khanh Ngoc Nguyen, Mai Thi Thanh Do, Ngoc Thi Bich Can, Wuh-Liang Hwu, Dung Chi Vu

PDF ABSTRACT

Molecular Genetics, Genomics, Mechanisms of Diseases

AB074. Genetic variation in CYP2U1, CYP4A11 and CYP4F2 involved in the biosynthesis of hydroxyeicosatetraenoic acids and susceptibility to hypertension and atherosclerosis of various locations

Alexey Polonikov, Svetlana Sirotina, Irina Ponomarenko, Yaroslav Shvetsov, Marina Bykanova, Anna Bocharova, Kseniya Vagaytseva, Vadim Stepanov, Maria Solodilova

PDF ABSTRACT

Molecular Genetics, Genomics, Mechanisms of Diseases

AB075. Genetic variation in soluble epoxide hydrolase gene and the risk of coronary heart disease in Russians

Maria Solodilova, Irina Ponomarenko, Svetlana Sirotina, Alexander Kharchenko, Marina Bykanova, Anna Bocharova, Kseniya Vagaytseva, Vadim Stepanov, Alexey Polonikov

PDF ABSTRACT

Newborn Screening, Inborn Errors of Metabolism

AB076. Heterozygous carriers of succinyl-CoA:3-oxoacid CoA transferase deficiency can develop severe ketoacidosis

Hideo Sasai, Yuka Aoyama, Hiroki Otsuka, Elsayed Abdelkreem, Yasuhiro Naiki, Mitsuru Kubota, Yuji Sekine, Masatsune Itoh, Mina Nakama, Hidenori Ohnishi, Ryoji Fujiki, Osamu Ohara, Toshiyuki Fukao

PDF ABSTRACT

Newborn Screening, Inborn Errors of MetabolismNSLEM

AB077. Identification of lysosomal and extralysosomal globotriaosylceramide (Gb3) accumulation in endomyocardial biopsies before the occurrence of typical pathological changes of Fabry disease

Dau-Ming Niu, Ming-Jia Hsu, Fu-Pang Chang, Yung-Hsiu Lu, Sheng-Che Hung, Yu-Chen Wang, An-Hang Yang, Chia-Lin Hsu

PDF ABSTRACT

Molecular Genetics, Genomics, Mechanisms of Diseases

AB078. Application of array comparative genomic hybridization in clinical diagnostics of intellectual disability/developmental delay in children

Sunil Polipalli, Prashant Verma, Ankur Jindal, Seema Kapoor

PDF ABSTRACT

Clinical Genetics

AB079. Use of saliva and salivary DNA for comprehensive genotyping based on RealFast and StripAssays

Christian Oberkanins, Anne Berndt, Barbara Hauser, Helene Puehringer

PDF ABSTRACT

Newborn Screening, Inborn Errors of Metabolism

AB080. MATI/III deficiency with demyelination of central tegmental tract during neonatal period

Shiro Matsumoto, Jun Kido, Rieko Sakamoto, Kimitoshi Nakamura, Hiroshi Mitsubuchi, Fumio Endo

PDF ABSTRACT

Clinical Genetics

AB081. Variable major phenotypes in familial Marfan syndrome in Indonesia: a case report

Nani Maharani, Amallia N. Setyawati, Sodiqur Rifqi, Muhammad A. Sungkar, Gerard Pals, Sultana MH Faradz

PDF ABSTRACT

Clinical Genetics

AB082. Glycogen storage disease IXa in a Filipino patient

Sylvia Estrada

PDF ABSTRACT

Genetic Counselling and Education

AB083. Social media with cartoon characters as a powerful tool for expanding medical education and raising awareness of rare genetic diseases

Thipwimol Tim-Aroon, Suphatcharee Leklab, Marin Satawiriya, Sirima Ketsuwan, Duangrurdee Wattanasirichaigoon

PDF ABSTRACT

Molecular Genetics, Genomics, Mechanisms of Diseases

AB084. The circulating serotypes of dengue in Sabah, Malaysian Borne

Nadia Iryani Najri, Zulina Mazlan, Joel Judson Jaimin, Rashidah Mohammad, Tajul Ariffin Awang Mohd, Ahneez Abdul Hameed, Vijay Kumar, Mohammad Zahirul Hoque

PDF ABSTRACT

Clinical Genetics

AB085. Diagnosis of Prader-Willi syndrome using computer-aided facial dysmorphism analysis in Thai patients

Thipwimol Tim-Aroon, Nantiya Mongkollarp, Waraphorn Khunin, Duangrurdee Wattanasirichaigoon

PDF ABSTRACT

Clinical Genetics

AB086. HLA-B1502 and HLA-B5801 genotyping for the prevention of severe cutaneous adverse drug reactions in a Children’s Hospital

Leng Kee Ching, Wendy Low, Yuen Ming Tan

PDF ABSTRACT

Complex Genetic Disorders, Genetic Susceptibility to Infections

AB087. Synergistic genetic effects of RET and NRG1 susceptibility variants in Hirschsprung disease

Kristy Iskandar, Akhmad Makhmudi, . Gunadi

PDF ABSTRACT

Molecular Genetics, Genomics, Mechanisms of Diseases

AB088. Prevalence of alpha thalassemia mutations in Filipino patients

Catherine Lynn Tipton Silao, Terence Diane F. Fabella, Maria Liza T. Naranjo, Carmencita D. Padilla, Ernesto D. J. Yuson

PDF ABSTRACT

Molecular Genetics, Genomics, Mechanisms of Diseases

AB089. Prevalence of the most common β-globin gene mutations in Filipino β-thalassemia patients

Catherine Lynn T. Silao, Terence Diane F. Fabella, Maria Liza T. Naranjo, Carmencita D. Padilla, Ernesto D. J. Yuson

PDF ABSTRACT

Complex Genetic Disorders, Genetic Susceptibility to Infections

AB090. Preliminary results of array CGH test in Vietnamese children with autism spectrum disorder

Huy Duong Do, Thi Phuong Hoa Bui, Thi Thanh Ha Ly, Thi Dieu Linh Pham, Trung Kien Tran, Thi Thanh Huong Le, Sy Vinh Le, Thanh Liem Nguyen

PDF ABSTRACT

Clinical Genetics

AB091. Comparison of two haemoglobin electrophoresis platforms for the detection of haemoglobinopathies

Chui Sheun Yoon, Yuen Ming Tan, Hai Yang Law

PDF ABSTRACT

Newborn Screening, Inborn Errors of Metabolism

AB092. A novel variant c.1506G>C at exon 9 of iduronate 2-sulfatase gene in mucopolysaccharidosis type II Indonesian child

Yulia Ariani, Rizky Priambodo, Cut Nurul Hafifah, Damayanti Rusli Sjarif

PDF ABSTRACT

Clinical Genetics

AB093. Report of a SMARCA4 variant identified in a patient with Coffin-Siris syndrome

Mun Fai Loke, Saumya Shekhar Jamuar, Eileen Chew Ping Lim, Ene Choo Tan

PDF ABSTRACT

Molecular Genetics, Genomics, Mechanisms of Diseases

AB094. Characteristic of ATP7B gene mutation in Vietnamese Wilson patients and asymptomatic diagnosis for their siblings

Huong M. T. Nguyen, Hoa A. P. Nguyen, Mai P. T. Nguyen, Chi V. Phan, Van T. Ta, Ngoc D. Ngo

PDF ABSTRACT

Molecular Genetics, Genomics, Mechanisms of Diseases

AB095. Prenatal diagnosis of Duchenne muscular dystrophy by combining of multiplex Polymerase Chain Reaction and Multiplex Ligation dependent Probe Amplification

Manh Tien Ngo, Thi Phuong Mai Nguyen, Thi Tuyet Nhung Ngo, Thi Mai Huong Nguyen, Thuy Lan An, Diem Ngoc Ngo, Chi Dung Vu, Phuong Thao Bui

PDF ABSTRACT

Molecular Genetics, Genomics, Mechanisms of Diseases

AB096. Molecular diagnosis of aniridia or WAGR syndrome using a simple DHPLC-based semi-quantitative multiplex PCR for detection of PAX6 large deletion

Ratchadaporn Chanayat, Sunisa Sawasdichai, Chanin Limwongse, Wanna Thongnoppakhun

PDF ABSTRACT

Molecular Genetics, Genomics, Mechanisms of Diseases

AB097. Combined effects of RET transcriptional enhancer variants in Hirschsprung disease

Fuad Dheni Musthofa, . Rochadi, Fnu Gunadi

PDF ABSTRACT

Molecular Genetics, Genomics, Mechanisms of Diseases

AB098. Genotype-phenotype association studies in patients with Beta-thalassemia: a systematic review

April Grace Berboso, Catherine Lynn Silao, Leonila Dans

PDF ABSTRACT

Complex Genetic Disorders, Genetic Susceptibility to Infections

AB099. Joint effects of RET and SEMA3 polymorphisms in Hirschsprung disease

Wiwid Santiko, Akhmad Makhmudi, . Gunadi

PDF ABSTRACT

Genetic Counselling and Education

AB100. Current status, challenges, and future prospective of genetic counseling in Taiwan

Mei-Hsin Li

PDF ABSTRACT

Newborn Screening, Inborn Errors of Metabolism

AB101. Improvement in the sensitivity of newborn screening for Fabry disease among females through the use of a high-throughput and cost-effective method, DNA mass spectrometr

Yung-Hsiu Lu, Po-Hsun Huang, Li-Yun Wang, Ting-Rong Hsu, Hsing-Yuan Li, Yu-Ping Hsieh, Sheng-Che Hung, Dau-Ming Niu

PDF ABSTRACT

Newborn Screening, Inborn Errors of Metabolism

AB102. A pilot newborn screening program for X-linked adrenoleukodystrophy

Pinwen Chen, Shiao-Fang Wang, Li-Hsin Chen, Yu-Shan Tseng, Yin-Hsiu Chien

PDF ABSTRACT

Population Genetics, Genetic Epidemiology, Statistics, Bioinformatics

AB103. A sequence variation of short tandem repeat observed in paternity cases using massively parallel sequencing technology

Poonyapat Sukawutthiya, Tikumphorn Sathirapatyaa, Kornkiat Vongpaisarnsina

PDF ABSTRACT

Newborn Screening, Inborn Errors of Metabolism

AB104. Evaluation of a new non-derivatized MS/MS kit in newborn screening program

Pinwen Chen, Shiao-Fang Wang, Li-Hsin Chen, Li-Yan Chiou, Yu-Shan Tseng, Yin-Hsiu Chien

PDF ABSTRACT

Newborn Screening, Inborn Errors of Metabolism

AB105. UPLC: an analytical technique to diagnose amino acid disorders accurately in biological samples

Sanjeev Pandey, Jyotsna Verma, Ratna D. Puri

PDF ABSTRACT

Birth Defects, Dysmorphology, Skeletal Dysplasia, Craniofacial Anomalies

AB106. Study of functional independence of patients with Hunter syndrome (mucopolysaccharidosis type II)

Thu Ha Nguyen, Mo Do Thi, Huong Bui Thi, Xuan Bui Thi, Linh Tran THi Thuy, Hoa Do Thi, Hoa Nguyen Thi Thanh, Dung Vu Chi

PDF ABSTRACT

Birth Defects, Dysmorphology, Skeletal Dysplasia, Craniofacial Anomalies

AB107. Study of functional independence of patients with osteogenesis imperfecta

Thu Ha Nguyen, Linh Tran Thi Thuy, Xuan Bui Thi, Huong Bui Thi, Hoa Do Thi, Hoa Nguyen Thi Thanh, Mo Do Thi, Ha Nguyen Thu

PDF ABSTRACT

Clinical Genetics

AB108. Oral findings of Apert Syndrome case found in Cirebon

Ariestya Indah Permata Sari, Donny Nauphar, Tiar M. Pratamawati, Venty Muliana Sari Soeroso

PDF

Cancer Genetics

AB109. Novel constitutional and somatic RB1 mutations underlying retinal cancers in addition to TNFα, KIF13A and MGMT alterations

Swati Tomar, Raman Sethi, Gangadhara Sundar, Thuan Chong Quah, Boon Long Quah, Poh San Lai

PDF ABSTRACT

Molecular Genetics, Genomics, Mechanisms of Diseases

AB110. Genotype and phenotype of 107 patients with congenital hyperinsulinism

Dung Chi Vu, Ngoc T. B. Can, Khanh Ngoc Nguyen, Thao Phuong Bui, Hai Thanh Le, Dat Phu Nguyen, Duong Anh Dang, Sian Ellard

PDF ABSTRACT

Prenatal Genetics, Reproductive Genetics

AB111. Prenatal treatment and fertility of female patients with congenital adrenal hyperplasia

Dung Chi Vu, Khanh Ngoc Nguyen, Ngoc Thi Bich Can, Thao Phuong Bui, Hai Thanh Le

PDF ABSTRACT

Newborn Screening, Inborn Errors of Metabolism

AB112. Spectrum of mucopolysaccharidoses in Vietnam

Dung Chi Vu, Ngoc Bich Thi Can, Khanh Ngoc Nguyen, Thao Phuong Bui, Han-Wook Yoo, Gu-Hwan Kim, Wuh-Liang Hwu

PDF ABSTRACT

Newborn Screening, Inborn Errors of Metabolism

AB113. Experiences from coordinating parents whose child with positive results of newborn screening of congenital adrenal hyperplasia

Shu Chien

PDF ABSTRACT

Clinical Genetics

AB114. Study of functional independence of patients with Duchene muscular dystrophy

Thu Ha Nguyen, Huong Bui Thi, Linh Tran Thi Thuy, Mo Do Thi, Hoa Nguyen Thi Thanh, Xuan Bui Thi, Hoa Do Thi, Ha Nguyen Thu

PDF ABSTRACT

Prenatal Genetics, Reproductive Genetics

AB115. Prenatal diagnosis for severe cases of targets in expanded newborn screening

Seiji Yamaguchi, Yuki Hasegawa, Kenji Yamada, Ryosuke Bo, Hironori Kobayashi, Takeshi Taketani

PDF ABSTRACT

Prenatal Genetics, Reproductive Genetics

AB116. Estimating the effectiveness of free β-hCG and PAPP-A in first trimester dried blood spot verses fresh serum

Ankur Jindal, Sunil Kumar Polipalli, Sangeeta Gupta, Sudha Prasad, Anjali Tempe, Seema Kapoor

PDF ABSTRACT

Molecular Genetics, Genomics, Mechanisms of Diseases

AB117. Rearranging workflow to improve turn-around time for genetic testing: doing more with less

Sharon Bain, Janice M. Fletcher, Rachel Hall, Scott Grist

PDF ABSTRACT

Clinical Genetics

AB118. Association between clinical phenotypes and neurodevelopmental outcomes in pediatric patients with neurofibromatosis type 1 at Siriraj hospital

Chatchai Thamrongajariyakul, Achara Sathienkijkanchai

PDF ABSTRACT

Clinical Genetics

AB119. Computer-aided facial recognition of Chinese individuals with 22q11.2 deletion-algorithm training using NIH atlas of human malformation syndromes from diverse population

Gary Tsz Kin Mok, Brian Hon-Yin Chung

PDF ABSTRACT

Complex Genetic Disorders, Genetic Susceptibility to Infections

AB120. Cholelithiasis in a Filipino child with chronic neuronopathic Gaucher disease: report of a case

Mary Ann Abacan, Mary Anne D. Chiong

PDF ABSTRACT

Newborn Screening, Inborn Errors of Metabolism

AB121. Late infantile neuronal ceroid lipofuscinosis in a Filipino child presenting with epilepsy and progressive neurodegeneration

Mary Anne D. Chiong, Benilda Sanchez-Gan

PDF ABSTRACT

Birth Defects, Dysmorphology, Skeletal Dysplasia, Craniofacial Anomalies

AB122. Occurrence of birth defects at the Philippine General Hospital, 2013–2014: a prospective study

Maria Melanie Liberty Alcausin, Aster Lynn D. Sur, Ma-Am Joy R. Tumulak, Carmencita D. Padilla

PDF ABSTRACT

Complex Genetic Disorders, Genetic Susceptibility to Infections

AB123. Correlation between neonatal TSH and maternal urinary iodine: perspective from a developing country

Haseena Sait, Ankur Jindal, Ravi Shankar Belwal, Sangeeta Yadav, Siddarth Ramji, Bittianda Kuttapa Thelma, Seema Kapoor

PDF ABSTRACT

Birth Defects, Dysmorphology, Skeletal Dysplasia, Craniofacial Anomalies

AB124. Craniofacial anomalies: an experience at Siriraj Hospital

Pornswan Wasant, Achara Sathienkijkanchai, Nithiwat Vatanavicharn, Somporn Liammongkolkul

PDF ABSTRACT

Genetic Counseling and Education

AB125. Down syndrome parents support group in Thailand: twenty-five years experiences

Pornswan Wasant

PDF ABSTRACT

Birth Defects, Dysmorphology, Skeletal Dysplasia, Craniofacial Anomalies

AB126. Genetic skeletal dysplasias in Thailand: twenty-five years experiences at Siriraj Hospital

Pornswan Wasant, Nithiwat Vattanawicharn, Achara Sathienkitkanchai, Somporn Liammongkolkul

PDF ABSTRACT

Genetic Dounseling and Education

AB127. Provision of medical genetic services in Thailand: Siriraj experience

Pornswan Wasant, Achara Sathienkijkanchai, Nithiwat Vatanavicharn, Somporn Liammongkolkul

PDF ABSTRACT

Molecular Genetics, Genomics, Mechanisms of Diseases

AB128. The first report of a hereditary persistent fetal hemoglobinemia of the Southeast Asian type deletion in the North of Vietnam

Ly Thi Thanh Ha

PDF ABSTRACT

Molecular Genetics, Genomics, Mechanisms of Diseases

AB129. Prevalence of ATP7B mutation hotspots in Thai population

Boonyawish Kunakorn, Sermsiri Chitphuk, Manisa Boosabaratana, Atchara Tunteeratum, Thanyachai Sura, Donniphat Dejsuphong

PDF ABSTRACT

Pharmacogenetics, Pharmacogenomics, Precision Medicine

AB130. Comprehensive analysis of CYP2D6 and copy number variants using reverse-hybridization and real-time PCR-based assays

Anne Berndt, Christian Oberkanins, Helene Puehringer

PDF ABSTRACT

Molecular Genetics, Genomics, Mechanisms of Diseases

AB131. Case report: a couple having a child affected with beta thalassemia major and another child with hydrops fetalis

Thi Tuyet Nhung Ngo, Thi Thanh Ha Ly, Diem Ngoc Ngo, Thi Phuong Mai Nguyen, Thuy Lan An, Thi Mai Huong Nguyen, Manh Tien Ngo, Hoang Nam Nguyen

PDF ABSTRACT

Molecular Genetics, Genomics, Mechanisms of Diseases

AB132. The role of oxytocin-neurophysin I in contributing to human personality traits and plasma immunogenic oxytocin levels

Anne Chong, Poh San Lai, Soo Hong Chew, Jean-Philippe Gouin, Richard P. Ebstein

PDF ABSTRACT

Newborn Screening, Inborn Errors of Metabolism

AB133. Expanded newborn screening program in Thailand

Somporn Liammongkolkul, Kasinat Sanomcham, Nithiwat Vatanavicharn, Achara Sathienkijkanchai, Enzo Ranieri, Pornswan Wasant

PDF ABSTRACT

Review Articles

Recent advances on the mechanisms regulating cholangiocyte proliferation and the significance of the neuroendocrine regulation of cholangiocyte pathophysiology

Antonio Franchitto, Paolo Onori, Anastasia Renzi, Guido Carpino, Romina Mancinelli, Domenico Alvaro, Eugenio Gaudio

The significance of genetics for cholangiocarcinoma development

Luca Maroni, Irene Pierantonelli, Jesus M. Banales, Antonio Benedetti, Marco Marzioni

Functional role of microvesicles in gastrointestinal malignancies

Kelly McDaniel, Robert Correa, Tianhao Zhou, Christopher Johnson, Heather Francis, Shannon Glaser, Julie Venter, Gianfranco Alpini, Fanyin Meng

The fetal liver as cell source for the regenerative medicine of liver and pancreas

Rossella Semeraro, Vincenzo Cardinale, Guido Carpino, Raffaele Gentile, Cristina Napoli, Rosanna Venere, Manuela Gatto, Roberto Brunelli, Eugenio Gaudio, Domenico Alvaro

Editorial

Will the 40-gene expression classifier predict responders to EGFR targeted chemotherapy for the invasive bladder cancer patients?

Jayoung Kim, Wun-Jae Kim

Translating basic science discoveries to clinical practice—Let us not repeat the naiveté of the pre-omics era

Kimberly J. Payne, Abigail Benitez, Sinisa Dovat

Circulating donor-derived cell-free DNA: a true biomarker for cardiac allograft rejection?

Kevin P. Daly

Elucidating new drug targets in psoriasis by gene profiling: an opportunity to be seized

Mark R. Walter

Safe anticoagulation when heart and lungs are “on vacation”

Marina A. Dobrovolskaia, Scott E. McNeil

γδ T cells and immunity to human malaria in endemic regions

Samarchith P. Kurup, John T. Harty

Apyrase as a novel therapeutic inhibitor of heterotopic ossification

Olin D. Liang, Anthony M. Reginato, Damian Medici

The CRISPR road: from bench to bedside on an RNA-guided path

Benjamin Garcia-Bloj, Colette Moses, Pilar Blancafort

Microbiome, a new dimension in cancer research

Antonio Galvao Neto, Azore-Dee Bradshaw, Zhiheng Pei

Selecting efficacious Bcl-2 family inhibitors for optimal clinical outcome

Irfana Muqbil, Ramzi M. Mohammad

Is spread through alveolar spaces, the newly recognized pattern of invasion, a potential game changer in lung adenocarcinoma?

Sarina Bains, Prasad S. Adusumilli

Significance of IASLC/ATS/ERS classification for early-stage lung adenocarcinoma patients in predicting benefit from adjuvant chemotherapy

Yusuke Takahashi, Takashi Eguchi, Sarina Bains, Prasad S. Adusumilli

Radiotherapy: killing with complement

Jean F. Regal, Kenneth J. Dornfeld, Sherry D. Fleming

Getting to the core of fibrosis: targeting redox imbalance in aging

Louise Hecker, Victor J. Thannickal

Perspective

Integrating bevacizumab and radiation treatment of brain metastasis: is there sense and sensibility in this approach?

Emil Lou, Paul W. Sperduto

Commentary

Applications of iPSC-derived models of Gaucher disease

Daniel K. Borger, Elma Aflaki, Ellen Sidransky

The impact of sedation protocols on outcomes in critical illness

Benjamin Scott, Tobias Eckle

Review Article

Osteonecrosis of the knee: review

Ammar R. Karim, Jeffrey J. Cherian, Julio J. Jauregui, Todd Pierce, Michael A. Mont

Update in genetic susceptibility in melanoma

Miriam Potrony, Celia Badenas, Paula Aguilera, Joan Anton Puig-Butille, Cristina Carrera, Josep Malvehy, Susana Puig

State of the art management of metastatic gastroesophageal cancer

Adrian G. Murphy, David Lynch, Ronan J. Kelly

Original Article

Hyaluronan expression in primary and secondary brain tumors

Laurence Jadin, Sandra Pastorino, Rebecca Symons, Natsuko Nomura, Ping Jiang, Tiffany Juarez, Milan Makale, Santosh Kesari

Muscle pathology, limb strength, walking gait, respiratory function and neurological impairment establish disease progression in the p.N155K canine model of X-linked myotubular myopathy

Melissa A. Goddard, David L. Mack, Stefan M. Czerniecki, Valerie E. Kelly, Jessica M. Snyder, Robert W. Grange, Michael W. Lawlor, Barbara K. Smith, Alan H. Beggs, Martin K. Childers

Letter to the Editor

Gene replacement rescues severe muscle pathology and prolongs survival in myotubularin-deficient mice and dogs

Martin K. Childers, Alan H. Beggs, Ana Buj-Bello

Review Articles

Functional role of microvesicles in gastrointestinal malignancies

Kelly McDaniel, Robert Correa, Tianhao Zhou, Christopher Johnson, Heather Francis, Shannon Glaser, Julie Venter, Gianfranco Alpini, Fanyin Meng

Effect of high fat-diet and obesity on gastrointestinal motility

Mazen Al Mushref, Shanthi Srinivasan

The physiological roles of secretin and its receptor

Syeda Afroze, Fanyin Meng, Kendal Jensen, Kelly McDaniel, Kinan Rahal, Paolo Onori, Eugenio Gaudio, Gianfranco Alpini, Shannon S. Glaser

Highlighted Reports in Galectins

Role of galectins in re-epithelialization of wounds

Noorjahan Panjwani

Editorial: Diabetes Mellitus

A look at the trend in diabetes-related complications in the U.S. over the past two decades: looking ahead

Chee W. Chia, Luigi Ferrucci

Helicobacter Pylori

Diagnosis of Helicobacter pylori using the rapid urease test

Takahiro Uotani, David Y. Graham

Review Article on MicroRNAs, Signalling Pathways and Diseases

MicroRNAs in congenital heart disease

Tanya Smith, Cha Rajakaruna, Massimo Caputo, Costanza Emanueli

Review Article on Toward Precision Medicine in Neurological Diseases

Precision medicine in spinocerebellar ataxias: treatment based on common mechanisms of disease

David D. Bushart, Geoffrey G. Murphy, Vikram G. Shakkottai

Focus on Toward Precision Medicine in Neurological Diseases

Toward precision medicine in Alzheimer’s disease

Christiane Reitz

Below are the latest Annals of Translational Medicine articles published online ahead of print publication.

Editorial

Secondary analysis of electronic health records in critical care medicine

Sven Van Poucke, Alberto Alexander Gayle, Milan Vukicevic

To repair or to replace: four decades in the making

Patpilai Kasinpila, Y. Joseph Woo

Editorial on “Genesis on diamonds II: contact with diamond enhances human sperm performance by 300%”

Stepan S. Batsanov, Andrei S. Batsanov

Can pancreatitis be treated by inhibiting Ca²⁺ signaling?

John A. Williams, David I. Yule

An interesting approach for the diagnosis of hepatic fibrosis: Wáng et al., “A combined use of intravoxel incoherent motion MRI parameters can differentiate early-stage hepatitis-b fibrotic livers from healthy livers”

Jean-Pierre Cercueil

The surgeon thunderbolts in 2016 lung cancer literature

Luca Bertolaccini, Alessandro Pardolesi, Jury Brandolini, Piergiorgio Solli

Challenges of interpreting patient reported outcomes from clinical trials

Diane L. Fairclough

Hypertension highlights during 2016

Wilbert S. Aronow

Of diamond surfaces, red light photobiomodulation and fertility: lessons from the laboratory

Raymond J. Lanzafame

Open thoracoabdominal aortic aneurysm repair in expert hands: “all roads lead to Rome”

Giacomo Murana, Jacopo Alfonsi, Luca Di Marco, Davide Pacini

Potential benefits of large database analysis

Slav Yartsev

Treatment recommendations by clinicians in stage I non-small cell lung cancer: better work-up leads to less discussion

Jo Raskin, Annelies Janssens, Jan P. Van Meerbeeck

EGFR mutation positive non-small cell lung cancer: can we identify predictors of benefit from immune checkpoint inhibitors

Ying Wang, Peter Ellis

Eravacycline for treatment of complicated intra-abdominal infections: the fire is not ignited!

Patrick M. Honore, Herbert D. Spapen

Towards a comprehensive framework for cell-free DNA analysis: lessons from TRACERx

Bryan C. Ulrich, Nicolas Guibert

Balanced crystalloids for the critically ill: knowledge on the rise but confusion still reigns!

Patrick M. Honore, Herbert D. Spapen

Reduction in dietary sodium improves blood pressure and reduces cardiovascular events and mortality

Wilbert S. Aronow

Radiotherapy treatment strategies for squamous cell carcinoma of the cervical oesophagus: moving toward better outcomes

Pierfrancesco Franco, Francesca Arcadipane, Paolo Strignano, Renato Romagnoli, Umberto Ricardi

Selecting high-risk individuals for lung cancer screening; the use of risk prediction models vs. simplified eligibility criteria

Rudolf Kaaks, Anika Hüsing, Renée T. Fortner

Treatment recommendations for stage I non-small cell lung cancer: does patient preference matter?

Helen A Powell, David R Baldwin

Increased cancer-specific mortality in individuals developing mental disorders after cancer diagnosis: biomedical factors versus psychosocial support

Siran M. Koroukian, Martha Sajatovic

Alectinib can replace crizotinib as standard first-line therapy for ALK-positive lung cancer

Takehiro Uemura, Toyoaki Hida

Very early antiretroviral therapy permits CD8 T cells to keep HIV reservoirs at bay

Jean-Pierre Routy, Vikram Mehraj

Remote home monitoring to identify and prevent diabetic foot ulceration

P. Andrew Crisologo, Lawrence A. Lavery

The role of foot collateral vessels on angiosome-oriented revascularization

César Varela, Francisco Acín, Joaquin De Haro, Ignacio Michel

River blindness goes beyond the eye: autoimmune antibodies, cross-reactive with Onchocerca volvulus antigen, detected in

Christoph Kaiser, Sébastien D. S. Pion

Fasting and engineered diets as powerful tool in the medical practice: an old approach in the new era

Concetta Panebianco, Adele Potenza, Valerio Pazienza

Lysosomal function in β-cell survival during glucolipotoxicity

Ana Batista- Gonzalez, Rajat Singh

Perspective

The subtypes of microscopic colitis from a pathologist’s perspective: past, present and future

Peter Johan Heiberg Engel, Anne-Marie Kanstrup Fiehn, Lars Kristian Munck, Martin Kristensson

How do I write a scientific article?—A personal perspective

Giuseppe Lippi

Should copyright be transferred before a manuscript is accepted?

Jaime A. Teixeira da Silva

Commentary

Integrative research agenda for diagnosis in sepsis

Katie Nolan, Ruth O’Leary, Lieuwe Bos, Ignacio Martin-Loeches

Review Article

Microscopic colitis—microbiome, barrier function and associated diseases

Saskia van Hemert, Karolina Skonieczna-Żydecka, Igor Loniewski, Piotr Szredzki, Wojciech Marlicz

Thoracic perforations—surgical techniques

Atilla Eroglu, Yener Aydin, Omer Yilmaz

What are the ethical aspects surrounding the collegial decisional process in limiting and withdrawing treatment in intensive care?

Jean-Pierre Quenot, Fiona Ecarnot, Nicolas Meunier-Beillard, Auguste Dargent, Audrey Large, Pascal Andreu, Jean-Philippe Rigaud

A few realistic questions raised by organ retrieval in the intensive care unit

Olivier Lesieur, Liliane Genteuil, Maxime Leloup

Ethical challenges involved in obtaining consent for research from patients hospitalized in the intensive care unit

Fiona Ecarnot, Jean-Pierre Quenot, Guillaume Besch, Gaël Piton

What are the ethical issues in relation to the role of the family in intensive care?

Jean-Pierre Quenot, Fiona Ecarnot, Nicolas Meunier-Beillard, Auguste Dargent, Audrey Large, Pascal Andreu, Jean-Philippe Rigaud

Establishing an evaluation mode with multiple primary outcomes based on combination of diseases and symptoms in TCM clinical trials

Jing Hu, Shuo Liu, Weihong Liu, Huina Zhang, Jing Chen, Hongcai Shang

Molecular mechanisms of programmed cell death-1 dependent T cell suppression: relevance for immunotherapy

Miren Zuazo, Maria Gato-Cañas, Noelia Llorente, María Ibañez-Vea, Hugo Arasanz, Grazyna Kochan, David Escors

Predictors of treatment failure and clinical stability in patients with community acquired pneumonia

Deirdre Morley, Antoni Torres, Catia Cillóniz, Ignacio Martin-Loeches

Overcoming resistance to BRAF inhibitors

Imanol Arozarena, Claudia Wellbrock

Peculiarities of intra-thoracic colon interposition—eso-coloplasty: indications, surgical management and outcomes

Lucile Gust, Henri De Lesquen, Ilies Bouabdallah, Geoffrey Brioude, Pascal-Alexandre Thomas, Xavier-Benoit D’journo

Tidal volume in acute respiratory distress syndrome: how best to select it

Michele Umbrello, Antonella Marino, Davide Chiumello

The combination of checkpoint immunotherapy and targeted therapy in cancer

Niki Karachaliou, Maria Gonzalez Cao, Aaron Sosa, Jordi Berenguer, Jillian Wilhelmina Paulina Bracht, Masaoki Ito, Rafael Rosell

The 8^th TNM edition for lung cancer: a critical analysis

Paul E. Van Schil, Ramon Rami-Porta, Hisao Asamura

Ethical aspects of admission or non-admission to the intensive care unit

Jean-Philippe Rigaud, Mikhael Giabicani, Marion Beuzelin, Antoine Marchalot, Fiona Ecarnot, Jean-Pierre Quenot

Airway microbiome research: a modern perspective on surveillance cultures?

Damien Roux, Pouline M. van Oort, Jean-Damien Ricard, Lieuwe D. J. Bos

Molecular analysis driven video-assisted thoracic surgery resections in bilateral synchronous lung cancers: from the test tube to the operatory room

Sergio Nicola Forti Parri, Barbara Bonfanti, Alessandra Cancellieri, Dario De Biase, Rocco Trisolini, Stefania Zoboli, Luca Bertolaccini, Piergiorgio Solli, Giovanni Tallini

Case management: an up-to-date review of literature and a proposal of a county utilization

Elisa Fabbri, Maddalena De Maria, Luca Bertolaccini

Integrating surgery and genetic testing for the modern surgeon

Raul Caso, Matthew Beamer, Alexander D. Lofthus, Michael Sosin

What are the ethical questions raised by the integration of intensive care into advance care planning?

Jean-Pierre Quenot, Fiona Ecarnot, Nicolas Meunier-Beillard, Auguste Dargent, Audrey Large, Pascal Andreu, Jean-Philippe Rigaud

Predictive factors of response to immunotherapy—a review from the Spanish Melanoma Group (GEM)

Enrique Espinosa, Ivan Márquez-Rodas, Ainara Soria, Alfonso Berrocal, Jose Luis Manzano, Maria Gonzalez-Cao, Salvador Martin Algarra, On behalf of the Spanish Melanoma Group (GEM)

Digital chest tomosynthesis: the 2017 updated review of an emerging application

Arianna Ferrari, Luca Bertolaccini, Piergiorgio Solli, Paola Oriana Di Salvia, David Scaradozzi

Ground glass opacities management in the lung cancer screening era

Marcello Migliore, Mariaconcetta Fornito, Manuela Palazzolo, Alessandra Criscione, Mariapia Gangemi, Francesco Borrata, Enrica Romeo, Paolo Vigneri, Marco Nardini, Joel Dunning

Economic evaluation of different suture closure methods: barbed versus traditional interrupted sutures

Randa K. Elmallah, Anton Khlopas, Mhamad Faour, Morad Chughtai, Arthur L. Malkani, Peter M. Bonutti, Martin Roche, Steven F. Harwin, Michael A. Mont

Extracorporeal life support in preoperative and postoperative heart transplant management

Christian A. Bermudez, D. Michael McMullan

Nebulized anticoagulants in lung injury in critically ill patients—an updated systematic review of preclinical and clinical studies

Jenny Juschten, Pieter R. Tuinman, Nicole P. Juffermans, Barry Dixon, Marcel Levi, Marcus J. Schultz

New trends in antitumor vaccines in melanoma

Marcos Vasquez, Shirley Tenesaca, Pedro Berraondo

Antibiotic consumption and ventilator-associated pneumonia rates, some parallelism but some discrepancies

David Nora, Pedro Póvoa

Original Article

Midterm outcomes of titanium modular femoral necks in total hip arthroplasty

Thurial Collet, Jean-Pierre Atanasiu, Jean-Baptiste de Cussac, Kamal Oufroukhi, Hugo Bothorel, Mo Saffarini, François Badatcheff

Factors that influence blood loss and need for transfusion following total knee arthroplasty

Achilleas Boutsiadis, Ryan Jacob Reynolds, Mo Saffarini, Jean-Claude Panisset

Outcomes of a newer-generation cementless total knee arthroplasty design in patients less than 50 years of age

Michael A. Mont, Chukwuweike Gwam, Jared M. Newman, Morad Chughtai, Anton Khlopas, Prem N. Ramkumar, Steven F. Harwin

A pilot study evaluating biomarker development for drug-induced chronic eczematous eruptions of aging individuals

Erika Mae Summers, Nicholas Ray Blickenstaff, Garrett Curtis Coman, Thomas Bernd Martins, Harry Raymond Hill, Richard Dennis Sontheimer

Detection of MET amplification in gastroesophageal tumor specimens using IQFISH

Jan Trøst Jørgensen, Karsten Bork Nielsen, Jens Mollerup, Anna Jepsen, Ning Go

Calcitonin gene-related peptide: neuroendocrine communication between the pancreas, gut, and brain in regulation of blood glucose

Sayali A. Pendharkar, Monika Walia, Marie Drury, Maxim S. Petrov

Case Report

Application of 3D technology and printing for femoral derotation osteotomy: case and technical report

Nicolás Fiz, Diego Delgado, Xabier Sánchez, Pello Sánchez, Ane Miren Bilbao, Jaime Oraa, Mikel Sánchez

Myocardial bridging with left ventricular hypertrophy presenting as Wellens pattern

Ahmad Abuarqoub, Maria Naranjo, Fayez Shamoon

Surgical treatment of synchronous multiple neuroendocrine lung tumours (case series): is more always better?

Jury Brandolini, Luca Bertolaccini, Alessandro Pardolesi, Piergiorgio Solli

Meet the Professor

Treating our patients with compassion & respect: interview with Dr. Zhaolin Lu of the Department of Endocrinology of Peking Union Medical College Hospital

Lili Liao, Han Zhang

Letter to the Editor

On the article “prospective study of quality of life after lung cancer resection”

Alessia Stanzi, Federico Mazza, Massimiliano Venturino, Lorena Costardi, Giulio Melloni

Pareidolias in idiopathic RBD—an author response letter to the Editorial “What the ‘man in the moon’ can tell us about the future of our brains”

Taeko Sasai-Sakuma

Diamonds are for men, too

Andrei P. Sommer

Morbidity, mortality, and obesity paradox

Michael Spartalis, Eleni Tzatzaki, Demetrios Moris, Antonios Athanasiou, Eleftherios Spartalis

Comment on “Mobile phone radiofrequency exposure has no effect on DNA double strand breaks (DSB) in human lymphocytes”

S. M. Javad Mortazavi

Radiation risk from lung cancer screening

Cristiano Rampinelli, Paolo De Marco, Massimo Bellomi

Meeting Report

Highlights of the season 2016–2017 by the Spanish Melanoma Group (GEM)

Ainara Soria, Jose Luis Manzano, Alfonso Berrocal, Enrique Espinosa, Ivan Marquez-Rodas, Maria Gonzalez-Cao, Salvador Martin-Algarra, On behalf of the Spanish Melanoma Group (GEM)

Report from the II melanoma translational meeting of the Spanish Melanoma Group (GEM)

Maria Gonzalez-Cao, Alfonso Berrocal, Susana Puig, Niki Karachaliou, Leticia De Matos-Arruda, Joan Seoane, David Escors, Carmen Alvarez, Jose Pedro Vaque, Aleix Prat, Claudia Wellbrock, Imanol Arozarena, Ivan Marquez-Rodas, Enrique Espinosa, Migue Angel Molina, Teresa Puertolas, Manuel Juan-Otero, Rosina Malagrida, Eloisa Jantus-Lewintre, Virtudes Soriano, Ana Arance, Jose Luis Manzano, Paul Lorigan, Thomas F. Gajewski, Rafael Rosell, On behalf of the Spanish Melanoma Group (GEM)

Infomelanoma 2020: an online digital application designed to assist health professionals for melanoma treatment

Maria González-Cao, Mar Carrasco-Calvo, Ainara Soria, Alfonso Berrocal, Ana Arance, Susana Puig, Laura Alós, Santiago Viteri, Pablo Cerezuela, Salvador Martín-Algarra

Big-data Clinical Trial Column

Nomogram for survival analysis in the presence of competing risks

Zhongheng Zhang, Ronald B. Geskus, Michael W. Kattan, Haoyang Zhang, Tongyu Liu

Development of scoring system for risk stratification in clinical medicine: a step-by-step tutorial

Zhongheng Zhang, Haoyang Zhang, Mahesh Kumar Khanal

Viewpoint

The evidence system of traditional Chinese medicine based on the Grades of Recommendations Assessment, Development and Evaluation framework

Hao Chen, Yan Wang, Wen-Bo Jiang, Joey S. W. Kwong, Yi-Huang Gu

Technical Note

Target-specific deep brain stimulation of the ventral capsule/ ventral striatum for the treatment of neuropsychiatric disease

Chencheng Zhang, Dianyou Li, Haiyan Jin, Kristina Zeljic, Bomin Sun

Meet The Professor more

Interview with Prof. Bo Shen: the current status of pouch More >>

Prof. Stefanie Dimmeler: long non-coding RNAs—why it is important in cardiovascular disease More >>

Interview with Prof. Steven Wexner: fluorescence imaging and TaTME applied in colorectal surgery More >>

Indexing

In Pubmed

In PMC

Publishing Information

Annals of Translational Medicine is published by AME Publishing Company

Society for Translational Medicine (STM), Hong Kong

Testimonials for ATM from Eminent Experts Worldwide

Welcome to join us on IASLC 18th World Conference on Lung Cancer

Focus on “Mesothelioma” guest edited by Drs. Andrea S. Wolf and Raja M. Flores

Focus on “Capsule Endoscopy” guest edited by Drs. Anastasios Koulaouzidis and Mark E. McAlindon

Impact of sleep apnea on in-hospital outcomes after transcatheter aortic valve replacement: insight from National Inpatient Sample database 2011–2014

MDA5 autoantibody—another indicator of clinical diversity in dermatomyositis

Message from the APCHG 2017 Organizing Committee

Welcome to the Ninth Postgraduate Course on “Surgery of The Thoracic Aorta”!

2016 Annual Report of ATM

Testimonials for ATM from Eminent Experts Worldwide

Asian Society of Thoracic Surgery (ASTS) was officially launched: collaborate across Asia and the world

About atm

Manuscript Submission

Advertising

Contact us

General editorial enquiries:

Copyright related contact:

Commercial Sales contact (Reprints, advertising, etc.):

Focused Issues more

Endorsement

Sponsored by

Newborn Screening, Inborn Errors of Metabolism

AB001. Methylmalonic and propionic acidemias: comparative outcomes between liver transplantation versus non-liver transplantation groups

Clinical Genetics

AB002. Human genetics at the National Research Centre in Egypt: history, achievements and challenges

Newborn Screening, Inborn Errors of Metabolism

AB003. Prevalence of copy number and structural variants across Mendelian disorders

Genetic Counseling and Education

AB004. Genetic diagnosis and experiences in management of disorders of sex development in Indonesia

Prenatal Genetics, Reproductive Genetics

AB006. Chromosome analysis in placenta with fetal anomaly

Population Genetics, Genetic Epidemiology, Statistics, Bioinformatics

AB007. Search of signals for cold adaptation in native populations of Siberia by whole exome sequencing

Therapeutic Methods, Treatment of Genetic Diseases

AB008. Bifunctional antibody as a surrogate molecular linker for the treatment of alpha-dystroglycan related muscular dystrophies

Newborn Screening, Inborn Errors of Metabolism

AB009. Biochemical and molecular research on lysosomal storage disorders in Thai patients

Clinical Genetics

AB010. Aberrant behavior profile of fragile X syndrome in medically underserved population

Molecular Genetics, Genomics, Mechanisms of Diseases

AB011. Genetic basis of intellectual disability in consanguineous families from Jordan

Complex Genetic Disorders, Genetic Susceptibility to Infections

AB012. Impact of down-regulated SK3 expressions in Hirschsprung’s disease patients following pull-through surgery

Prenatal Genetics, Reproductive Genetics

AB013. Distribution of azoospermia factor microdeletions in Indonesian infertile males

Newborn Screening, Inborn Errors of Metabolism

AB014. Beta-ketothiolase deficiency: phenotype, genotype and outcome of 48 Vietnamese patients

Birth Defects, Dysmorphology, Skeletal Dysplasia, Craniofacial Anomalies

AB015. Study on pericentric inversion of chromosome 9 and congenital abnormalities in children

Clinical Genetics

AB016. A new model of provision of clinical genetics service

Newborn Screening, Inborn Errors of Metabolism

AB017. Gene panel study for target metabolic diseases of newborn screening in Japan

Clinical Genetics

AB018. Hospitalization of adults with Down syndrome: lesson from a 10-year experience from a community hospital

Clinical Genetics

AB019. Clinical chromosomal microarray analysis in Singapore

Birth Defects, Dysmorphology, Skeletal Dysplasia, Craniofacial Anomalies

AB020. Chromosome rearrangement in patients with 46,XY disorders of sex development

Clinical Genetics

AB021. An observational study to identify keratin 5 and 14 mutations in patients with epidermolysis bullosa simplex in MacKay Memorial Hospital, Taipei, Taiwan

Genetic Counseling and Education

AB022. External quality assessment of clinical genetics: from pilot assessment to full external quality assurance scheme

Therapeutic Methods, Treatment of Genetic Diseases

AB023. Evaluation the outcome of β-thalassemia intermedia patients on hydroxyurea combined with erythropoietin at National Children’s Hospital

Clinical Genetics

AB024. Etiology of recognizable or unclassified overgrowth syndrome

Molecular Genetics, Genomics, Mechanisms of Diseases

AB025. PDGFRA gene polymorphism and corneal curvature in Indonesian people with astigmatism

Complex Genetic Disorders, Genetic Susceptibility to Infections

AB026. Genetic variation in CYP2C8, CYP2C9 and CYP2C19 and the risk of coronary artery disease

Complex Genetic Disorders, Genetic Susceptibility to Infections

AB027. Promoter polymorphism rs9332978 in the CYP4A11 gene is a novel susceptibility marker for coronary heart disease

Newborn Screening, Inborn Errors of Metabolism

AB028. Very early treatment for infantile-onset Pompe disease contributes to better outcomes: 10-year experience in one institute

Clinical Genetics

AB029. Rare condition of hepatic Gaucheroma in a type I Gaucher patient with enzyme replacement therapy

Birth Defects, Dysmorphology, Skeletal Dysplasia, Craniofacial Anomalies

AB030. Study of bone turnover markers and treatment monitoring in osteogenesis imperfecta

Clinical Genetics