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. …”
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Rescue of common and rare exon 2 skipping variants of the GAA gene using modified U1 snRNA by Paolo Peruzzo, Natascha Bergamin, Martina Bon, Sara Cappelli, Alessandra Longo, Elisa Goina, Cristiana Stuani, Emanuele Buratti, Andrea Dardis

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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. …”
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Air Pollution and Respiratory Permeability in Obstructive Sleep Apnea — A Review by Nguyen Thanh Tung, Hoang Ba Dung, Tran Phan Chung Thuy, Huynh Nguyen Xuan Thao, Hsiao-Chi Chuang

“…Abstract Obstructive sleep apnea (OSA) is a common disorder characterized by recurrent episodes of nocturnal upper airway obstruction during sleep, which can seriously affect sleep quality and cause sleepiness during the daytime. …”
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Identification of Houge type of X-linked syndromic mental retardation caused by CNKSR2 truncated variants by Si-Hua Chang, Jie-Yuan Jin, Yi-Qiao Hu, Run-Yan Wang, Rong Xiang, Xia Wang

“…MRXSHG is a serious disorder with CNKSR2 variant and at least 34 variants have been identified in MRXSHG patients. …”
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Case report of familial hypercholesterolemia with internal carotid neck swelling by Sudesh Kumar, Prajna Ray, Ranita Sahana

“…This case highlights the significance of conscious and proactive genetic screening for familial hypercholesterolemia especially in consanguineous marriage, to diagnose, treat and prevent mortality with premature coronary artery disease.…”
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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. …”
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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. …”
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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. …”
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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. …”
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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. …”
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Challenges Faced by Nurses in Transitioning Pediatric Sickle Cell Disease Patients to Adult Care by Gifty Enyonam Amoaku, Delali Adwoa Wuaku, Vivian Efua Senoo-Dogbey

“…Background Sickle-cell disease is a common genetic red blood cell disorder with global concern. …”
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Harlequin Ichthyosis: Case Series by Huriye Ezveci, Sukran Dogru, Fatih Akkus, Kazim Gezginc

“… Objective: Harlequin ichthyosis (HI) is an autosomal-recessive inherited disorder. The incidence is extremely rare and is reported to range from 1/300 000 to 1/1 000 000. …”
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The impact of gut microbiome on neuro-autoimmune demyelinating diseases by Pouria Abolfazli, Cristina Nkene Apue Nchama, Brandon Lucke-Wold

“…Genetic predisposition and environmental factors, such as alterations in the gut microbiome, influence these conditions. …”
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Role of HLA alleles polymorphism in systemic lupus erythematosus: A prospective study from North India by Ranjan S. Rana, Bitan Naik, Mahima Yadav, Usha Singh, Anup Singh, Shailja Singh

“…Background: Systemic lupus erythematosus (SLE) is a chronic autoimmune disorder and has complex etiopathogenesis. The most appropriate hypothesis states that genetic susceptibility in the presence of environmental risk factors predisposes to SLE. …”
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Looking outside the box with a pathology aware AI approach for analyzing OCT retinal images in Stargardt disease by Parisa Khateri, Tiana Koottungal, Damon Wong, Rupert W. Strauss, Lucas Janeschitz-Kriegl, Maximilian Pfau, Leopold Schmetterer, Hendrik P. N. Scholl

“…Abstract Stargardt disease type 1 (STGD1) is a genetic disorder that leads to progressive vision loss, with no approved treatments currently available. …”
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Quality of Life in Wilson’s Disease: A Systematic Literature Review by Chakrapani Balijepalli, Kevin Yan, Lakshmi Gullapalli, Stephane Barakat, Helene Chevrou-Severac, Eric Druyts

“…**Background:** Wilson’s disease (WD) is a rare inherited genetic disorder characterized by the progressive accumulation of copper in the brain, liver, and other major organ systems. …”
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Understanding Obesity and the Role of Pharmacological Treatments: Insights for Health and Fitness Enthusiasts by Agnieszka Starzyk, Piotr Charzewski

“… Obesity results from disruptions in the regulation of body weight, driven by complex interactions between genetic and environmental factors. Genetic forms, such as monogenic and syndromic obesity, are rare but severe conditions often presenting with early-onset obesity, eating disorders, and a range of comorbidities. …”
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Loss of MEF2C function by enhancer mutation leads to neuronal mitochondria dysfunction and motor deficits in mice by Ali Yousefian-Jazi, Suhyun Kim, Jiyeon Chu, Seung-Hye Choi, Phuong Thi Thanh Nguyen, Uiyeol Park, Min-gyeong Kim, Hongik Hwang, Kyungeun Lee, Yeyun Kim, Seung Jae Hyeon, Hyewhon Rhim, Hannah L. Ryu, Grewo Lim, Thor D. Stein, Kayeong Lim, Hoon Ryu, Junghee Lee

“…Both genetic alterations and epigenetic modifications contribute to neuronal dysfunction in the pathogenesis of ALS. …”
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