Autoimmune hepatitis: new in diagnostics, a pathogenesis and treatment by Ye. N. Shirokova, K. V. Ivashkin, V. T. Ivashkin

“…AIH is a chronic inflammatory liver disease which is characterized by destruction of terminal plate by mononuclear infiltrate (interface hepatitis) according to histological investigation, hypergammaglobulinemia and production of autoantibodies. Genetic risk factors of AIH development is the presence of DRB1*0301 and DRB1*0401 alleles. …”
Get full text

Beyond Benign: A Case of Subependymal Giant Cell Astrocytomas Provoking Hydrocephalus in Tuberous Sclerosis Complex by Antonio Navarro-Ballester, Rosa Álvaro-Ballester, Miguel Ángel Lara-Martínez

“… 22-year-old male diagnosed with Tuberous Sclerosis Complex (TSC), a genetic disorder characterized by benign tumors in various organs, with a focus on neurological implications. …”
Get full text

Epidural Anesthesia for Cesarean Section in a Pregnant Woman with Marfan Syndrome and Dural Ectasia by Franco Pepe, Mariagrazia Stracquadanio, Francesco De Luca, Agata Privitera, Elisabetta Sanalitro, Puccio Scarpinati

“…Marfan syndrome (MFS) is a genetic disorder of connective tissue, characterized by variable clinical features and multisystem complications. …”
Get full text

Neurosurgical aspects of marble bone disease: treatment modalities and outcome by Mahmoud Mohammed Gamal, Roshdy Elkhayat, Hassan Mohammed Hassan

“…Conclusion Marble bone disease or osteopetrosis is a rare hereditary disorder with multiple neurological impacts. Increased ICP and CNs compression are the most common. …”
Get full text

Cardiovascular Disease, Single Nucleotide Polymorphisms; and the Renin Angiotensin System: Is There a MicroRNA Connection? by Terry S. Elton, Sarah E. Sansom, Mickey M. Martin

“…Essential hypertension is a complex disorder, caused by the interplay between many genetic variants, gene-gene interactions, and environmental factors. …”
Get full text

Vitamin D and Selenium: Review of Clinical Trials of Synergistic Effects on Thyroid Antibody Levels and Disease Progression in Hashimoto’s Thyroiditis by Agnieszka Starzyk, Piotr Charzewski

“… Introduction: Hashimoto's Thyroiditis (HT) is a common autoimmune thyroid disorder caused by genetic predispositions and environmental factors, such as iodine imbalance, selenium deficiency, and stress. …”
Get full text

Xeroderma Pigmentosum: Man Deprived of His Right to Light by Subhash Mareddy, Jithendra Reddy, Subhas Babu, Preethi Balan

“…Xeroderma pigmentosum (XP) is a hereditary autosomal recessive disorder characterized by photo hypersensitivity of sun exposed tissues and subsequent several-fold increased risk for malignant changes resulting from impaired ability to repair UV-induced DNA damage. …”
Get full text

Hereditary neuropathy with liability to pressure palsies: a case series report by S. Naudžiūnaitė, R. Bunevičiūtė, B. Burnytė

“…All patients had a genetically proven diagnosis of a deletion at 17p12 locus, which contains PMP22 gene. …”
Get full text

Dental Treatment of a Child with Pallister-Killian Syndrome by Serhan Didinen, Didem Atabek, Gülay Kip, Aslı Patır Münevveroğlu, Özlem Tulunoğlu

“…The Pallister-Killian syndrome (PKS) is an extremely rare genetic disorder with an incidence estimated around 1/25000. …”
Get full text

Prader-Willi Syndrome: Clinical Aspects by Grechi Elena, Cammarata Bruna, Mariani Benedetta, Di Candia Stefania, Chiumello Giuseppe

“…Prader-Willi Syndrome (PWS) is a complex multisystem genetic disorder that shows great variability, with changing clinical features during a patient’s life. …”
Get full text

Priapism in a Child from Homocystinuria from Methylenetetrahydrofolate Reductase MTHFR (C677T) Mutation by Ameer Kakaje, Ammar Fadel, Osama Hosam Aldeen, Othman Hamdan

“…Homocystinuria is a rare autosomal recessive disorder that can cause hyperhomocysteinemia and hypercoagulability. …”
Get full text

Systemic lupus erythematosus in a patient with 22q11.2 deletion syndrome: A case report and review of the literature by Chen Sun, Pingyang Han, Juzhen Yan

“…22q11.2 deletion syndrome (MIM: 192430/188400, ORPHA: 567) is the most common chromosomal microdeletion disorder, caused by a hemizygous microdeletion of 2.5 million base pairs on chromosome 22. …”
Get full text

Machine learning and multi-omics in precision medicine for ME/CFS by Katherine Huang, Brett A. Lidbury, Natalie Thomas, Paul R. Gooley, Christopher W. Armstrong

“…The growing field of precision medicine offers a promising approach which focuses on the genetic and molecular underpinnings of individual patients. …”
Get full text

Etiology, Clinical Features, and Diagnosis of Vulvar Lichen Sclerosus: A Scoping Review by Nilanchali Singh, Prafull Ghatage

“…Studies suggest a multifactorial origin as far as etiology is concerned, including a genetic, autoimmune, hormonal, and local infectious background. …”
Get full text

Trichostatin A suppresses hearing loss by reducing oxidative stress and inflammation in an Alport syndrome model. by Yoon Seok Nam, Eun-Ji Gi, Yoo-Seung Ko, Sungsu Lee, Hyong-Ho Cho

“…Alport syndrome (AS) is a genetic disorder marked by mutations in type IV collagen, leading to kidney glomerular dysfunction. …”
Get full text

Risk Factors Influencing Cognitive Function in Elderly Patients With Late‐Life Depression: A Scoping Review by Ping Jiang, Yunfeng Gao, Lin Wang, Xiaojun Shao, Lei Zhang, Gang Zhu, Li Duan

“…At present, the research on its influencing factors mainly includes socio‐demographic, physiological, psychological, genetic, and other related factors. There have been existing cognitive function assessment tools specifically for those 18‐ to 65‐year‐old patients of major depressive disorder, but there is still a lack of reliability and validity tests in LLD.…”
Get full text

A cross-tissue transcriptome-wide association study identifies new susceptibility genes for benign prostatic hyperplasia by Li Wang, Si-yu Chen, Jian-wei Yang, Kang-yu Wang, Kun-peng Li, Shun Wan, Xiao-ran Li, Li Yang

“…Abstract Benign prostatic hyperplasia (BPH) is a prevalent urinary system disorder. Despite evidence of a significant genetic component from previous studies, the specific pathogenic genes and biological mechanisms are still largely unknown. …”
Get full text

Impaired cognitive function and decreased monoamine neurotransmitters in the DNAJC12 gene knockout mouse model by Shunan Wang, Ming Shen, Bo Pang, Bo Zhou, Yuan Yuan, Mei Lu, Xiangling Deng, Min Yang, Shufang Liu, Qiong Wang, Mei Xue, Qisheng Xia, Zhixin Zhang

“…Abstract Background Hyperphenylalaninemia, a prevalent amino acid metabolism disorder, often results in cognitive impairment. Recent studies have identified a rare variant of this disorder caused by mutations in the DNAJC12 gene. …”
Get full text

Total shoulder arthroplasty in a patient with osteopetrosis: A case report by Ryan C. Rizk, MS, Elias Lugo-Fagundo, BS, Mohammad Yasrab, MD, Edmund M Weisberg, MS, MBE, Linda C. Chu, MD, John M. Gross, MD, Elliot K. Fishman, MD

“…Osteopetrosis is a rare genetic disorder that leads to increased bone density and fragility due to dysfunctional osteoclasts, which can result in narrowed bone marrow spaces, hardened cartilage, and brittle bones. …”
Get full text

Oligodendrocyte Injury in Multiple Sclerosis. by Mateo Përgjegji, Klei Bame, Ketrina Ceka, Jera Cenalia , Sibora Bërdica , Teona Bushati

“… Introduction: Multiple sclerosis (MS) is a chronic autoimmune disorder of the central nervous system (CNS), marked by inflammation, demyelination, and significant oligodendrocyte injury. …”
Get full text