Treatment of tardive dyskinesia caused by long-term antipsychotic use: case reports and literature review by I. Pabarčiūtė, M. Karnickas

“…Tardive dyskinesia is a movement disorder that begins with exposure to dopamine receptor-blocking agents for at least a few months. …”
Get full text

Drug repurposing screen for the rare disease ataxia-telangiectasia by Namrata Jayanth, Gurvan Mahé, Matthew Campbell, Mike Lipkin, Shushant Jain, Rhea van de Bospoort, Jennifer Thornton, Brad Margus, David F. Fischer

“…Ataxia Telangiectasia (A-T) is a rare, autosomal recessive genetic disorder characterized by a variety of symptoms, including progressive neurodegeneration, telangiectasia, immunodeficiency, and an increased susceptibility to cancer. …”
Get full text

Lipedema: Clinical Features, Diagnosis, and Management by Hatan Hisham Mortada, Abdulmalek W. Alhithlool, Nouf Z. AlBattal, Rashika K. Shetty, Ghaleb A. AL-Mekhlafi, Joon Pio Hong, Feras Alshomer

“…Lipedema is an adipose tissue disorder that principally affects women and is frequently misidentified as obesity or lymphedema. …”
Get full text

Fibrodysplasia Ossificans Progressiva and Pregnancy: A Case Series and Review of the Literature by Alexandra D. Forrest, Danielle M. Vuncannon, Jane E. Ellis, Zvi Grunwald, Frederick S. Kaplan

“…To evaluate maternal and fetal outcomes in pregnant patients with fibrodysplasia ossificans progressiva (FOP; OMIM#135100), an ultrarare genetic disorder characterized by progressive heterotopic ossification of soft tissues and cumulative disability. …”
Get full text

Research progress on the mechanisms of apolipoprotein E in Alzheimer’s disease by Jiayuan Li, Ting Liu, Shengxi Meng

“…Alzheimer’s disease (AD) is a degenerative disorder of the central nervous system that predominantly affects the elderly.The Apolipoprotein E (ApoE) gene is identified as the most significant genetic factor associated with AD.This article reviews current findings on the relationship between ApoE and AD, the impact of APOE gene polymorphisms on AD, the interaction between ApoE and other pathogenic factors, and the role of ApoE in AD.Additionally, it discusses the diagnosis and treatment of AD to enhance the understanding of its pathogenesis and to provide new perspectives for the prevention and management of the disease.…”
Get full text

Median Mandibular Cleft in SAMS Syndrome – A Rare Case Report by S. M. Balaji, Preetha Balaji, Chris Joseph, Sachin Nishanth, Varsha Christy Balaji

“…Rationale: SAMS syndrome is a rare genetic disorder characterized by midline facial clefting, skeletal anomalies, and other defects. …”
Get full text

Symptomatic Secondary Selective IgM Immunodeficiency in Adult Man with Undiagnosed Celiac Disease by Eli Magen, Viktor Feldman, Mishal Joseph, Hadari Israel

“…Selective IgM immunodeficiency (SIgMID) is a heterogeneous disorder with no known genetic background and may occur as a primary or a secondary condition. …”
Get full text

Three Cases of Pigmentary Incontinence and Literature Review by Yunfeng Zhang, Yuan Wang, Jinpu Zhang, Na Song

“…Background: Incontinentia pigmenti (IP) is a rare X-linked dominantly inherited genetic skin disorder in which most male infants cannot survive. …”
Get full text

Enterokinase deficiency associated with novel TMPRSS15 gene mutations: a case report by Yunxi Li, Ruijuan Li, Yanyan Pan, Weiran Zhou, Xingcui Wang, Linlin Dong, Xuemei Liu, Hongxia Zhang

“…BackgroundEnterokinase deficiency (EKD,OMIM #226200) is a rare autosomal recessive genetic disorder caused by mutations in transmembrane protease serine 15 (TMPRSS15). …”
Get full text

Fatal Postpartum Hemorrhage in a Patient with Niemann-Pick Disease Type B by Atakan Tanacan, Abdullah Yalcin, Canan Unal, Seda Banu Akinci, Mehmet Sinan Beksac

“…Niemann-Pick Disease Type B (NPD B) is a rare lysosomal storage disorder resulting from an inherited deficiency of acid sphingomyelinase activity. …”
Get full text

NCK2 Is Significantly Associated with Opiates Addiction in African-Origin Men by Zhifa Liu, Xiaobo Guo, Yuan Jiang, Heping Zhang

“…Substance dependence is a complex environmental and genetic disorder with significant social and medical concerns. …”
Get full text

Search for signals of positive selection of circadian rhythm genes <i>PER1</i>, <i>PER2</i>, <i>PER3</i> in different human populations by A. I. Mishina, S. Y. Bakoev, A. Y. Oorzhak, A. A. Keskinov, Sh. Sh. Kabieva, A. V. Korobeinikova, V. S. Yudin, M. M. Bobrova, D. A. Shestakov, V. V. Makarov, L. V. Getmantseva

“…In addition, many of the selection variants in the PER1, PER2, PER3 genes appear to regulate biological processes that are associated with major modern diseases, including obesity, cancer, metabolic syndrome, bipolar personality disorder, depression, rheumatoid arthritis, diabetes mellitus, lupus erythematosus, stroke and Alzheimer’s disease, making them extremely interesting targets for further research aimed at identifying the genetic causes of human disease.…”
Get full text

Pathway Analysis of Metabolic Syndrome Using a Genome-Wide Association Study of Korea Associated Resource (KARE) Cohorts by Unjin Shim, Han-Na Kim, Yeon-Ah Sung, Hyung-Lae Kim

“…Metabolic syndrome (MetS) is a complex disorder related to insulin resistance, obesity, and inflammation. …”
Get full text

Fetal and neonatal cardiac tumor diagnosed as Tuberous Sclerosis associated rhabdomyomas resulting from novel pathogenic missense variant detected in TSC2 gene: A case report by Aya Kawasaki, MD, Hidefumi Tonoki, MD, PhD, Osamu Sasaki, MD, PhD, Yoko Matsushita, MD, PhD, Michiko Watari, MD, PhD, Nobuhiro Takahashi, MD, Satoko Fujieda, MD

“…TS is an autosomal dominant disorder caused by the mutations in TSC1 or TSC2 genes. …”
Get full text

The Polycystic Ovary Syndrome and the Metabolic Syndrome: A Possible Chronobiotic-Cytoprotective Adjuvant Therapy by Eduardo Spinedi, Daniel P. Cardinali

“…Polycystic ovary syndrome is a highly frequent reproductive-endocrine disorder affecting up to 8–10% of women worldwide at reproductive age. …”
Get full text

Keratoconus with two consecutive re-emergences: a case report by Peicheng Zhang, Yanchao Wu, Lixiao Ma, Dong Wang

“…Conclusions Keratoconus is a complex disorder with a multifaceted etiology and pathogenesis, including genetic, environmental, biomechanical, and cellular factors. …”
Get full text

Erlotinib therapy for Olmsted syndrome with p.L655P missense mutation in the TRPV3 gene: a case report by Jia Zhang, MengYue Guo, DongYang Yuan, JinYang Wei, Hongzhou Cui, Hongzhou Cui

“…Here we describe a classically OS case with definitive diagnosis of OS based on clinical features and a genetic assay. Genetic analysis revealed heterozygous variants in the TRPV3 gene using whole-exome sequencing of case-parents’ trios. …”
Get full text

Giant Prolactinoma of Young Onset: A Clue to Diagnosis of MEN-1 Syndrome by Chandrika Jayakanthi Subasinghe, Noel Somasundaram, Pathmanathan Sivatharshya, Lalana Devi Ranasinghe, Márta Korbonits

“…Multiple endocrine neoplasia (MEN) type 1 syndrome is an autosomal dominant disorder caused by germline mutations in MEN1 gene, characterized by tumours in endocrine and nonendocrine organs. …”
Get full text

Oligodontia and Facial Phenotype Associated with a Rare Syndrome by Fatima Ezzahra Zidane, Mustapha El Alloussi

“…Oligodontia is a dental abnormality in which the patient is missing teeth. It is a hereditary disorder characterized by agenesis of more than six primary or permanent teeth, excluding the wisdom teeth. …”
Get full text

Serum Biomarkers in Transthyretin Amyloidosis: An Overview of Neurofilaments, Cardiac, Renal, and Gastrointestinal Involvement by Valeria Guglielmino, Francesca Vitali, Angela Romano, Guido Primiano, Maria Ausilia Sciarrone, Marco Luigetti

“…Abstract Hereditary transthyretin amyloidosis (ATTRv, v for variant) is a genetic disorder characterized by the deposition of misfolded transthyretin (TTR) protein in tissues, resulting in progressive dysfunction of multiple organs, including the nervous system, heart, kidneys, and gastrointestinal (GI) tract. …”
Get full text