Targeting Histone Deacetylases: A Novel Approach in Parkinson’s Disease by Sorabh Sharma, Rajeev Taliyan

“…The worldwide prevalence of movement disorders is increasing day by day. Parkinson’s disease (PD) is the most common movement disorder. …”
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Anthropometric Evaluation of pupils from APAE Araras-SP having Down Syndrome by Carolina Barbosa Ribeiro, Mércia Tancredo Toledo

“…Down syndrome is a genetic and metabolic disorder, which can affect nutritional status. …”
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Osteopathic Manipulative Treatment Limits Chronic Constipation in a Child with Pitt-Hopkins Syndrome by Alessandro Aquino, Mattia Perini, Silvia Cosmai, Silvia Zanon, Viviana Pisa, Carmine Castagna, Stefano Uberti

“…Pitt-Hopkins Syndrome (PTHS) is a rare genetic disorder caused by insufficient expression of the TCF4 gene. …”
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Current Concepts of Hyperinflammation in Chronic Granulomatous Disease by Nikolaus Rieber, Andreas Hector, Taco Kuijpers, Dirk Roos, Dominik Hartl

“…Chronic granulomatous disease (CGD) is the most common inherited disorder of phagocytic functions, caused by genetic defects in the leukocyte nicotinamide dinucleotide phosphate (NADPH) oxidase. …”
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Dystrophic Epidermolysis Bullosa in Pregnancy: A Case Report of the Autosomal Dominant Subtype and Review of the Literature by Nicole Colgrove, Rayan Elkattah, Howard Herrell

“…The paper also reviews the current English literature on this rare skin disorder.…”
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Allgrove syndrome in endocrinology: Difficulties of diagnosis and treatment features. Case report by Uliana V. Buyvalenko, Anna R. Levshina, Anna K. Eremkina, Kseniya A. Komshilova, Nadezhda M. Platonova

“…Allgrove syndrome is a rare autosomal recessive disorder characterized by the achalasia, alacrimia, adrenal insufficiency, which gave the additional and more recognizable name of this pathology – “Triple-A syndrome”. …”
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Hyperinsulinemic Hypoglycaemia in a Turner Syndrome with Ring (X) by Michela Cappella, Vanna Graziani, Antonella Pragliola, Alberto Sensi, Khalid Hussain, Claudia Muratori, Federico Marchetti

“…HH can either be congenital genetic hyperinsulinism or associated with metabolic disorder and syndromic condition. …”
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Atypical Parkinsonism Revealing a Late Onset, Rigid and Akinetic Form of Huntington's Disease by A. Ciammola, J. Sassone, B. Poletti, N. Mencacci, R. Benti, V. Silani

“…Huntington's disease (HD) is a rare hereditary neurodegenerative disorder characterized in over 90 percent of cases by chorea as the presenting motor symptom. …”
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Brain magnetic resonance imaging findings in Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): A case-based review by Maria Veatriki Christodoulou, MD, MSc, Nikoletta Anagnostou, MD, MSc, Anastasia K. Zikou, MD, PhD

“…Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is a rare autosomal recessive disorder, manifesting with gastrointestinal dysmotility, cachexia, ptosis and peripheral neuropathy. …”
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The Endotoxin-Induced Neuroinflammation Model of Parkinson's Disease by Kemal Ugur Tufekci, Sermin Genc, Kursad Genc

“…Parkinson's disease (PD) is a common neurodegenerative disorder characterized by the progressive loss of dopaminergic (DA) neurons in the substantia nigra. …”
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Leber's Hereditary Optic Neuropathy-Gene Therapy: From Benchtop to Bedside by Rajeshwari D. Koilkonda, John Guy

“…Leber's hereditary optic neuropathy (LHON) is a maternally transmitted disorder caused by point mutations in mitochondrial DNA (mtDNA). …”
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4,6-Disubstituted pyrimidine-based microtubule affinity-regulating kinase 4 (MARK4) inhibitors: synthesis, characterization, in-vitro activity and in-silico studies by Ashanul Haque, Khalaf M. Alenezi, Mohd. Saeed Maulana Abdul Rasheed, Md. Ataur Rahman, Saleha Anwar, Shahzaib Ahamad, Dinesh Gupta

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A novel TGFBR2 mutation causes Loeys-Dietz syndrome in a Chinese infant: A case report by Xin Liu, Kaiqing Liu, Lifu Hu, Zixiao Liu, Xinhua Liu, Jiantao Wang

“…Introduction: Loeys‐Dietz syndrome (LDS) is a rare autosomal dominant disorder with extensive connective tissue involvement. …”
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Identification of potential druggable targets for endometriosis through Mendelian randomization analysis by Peng Chen, Xin Wei, Xiao-Ke Li, Yi-Hang Zhou, Yi-Hang Zhou, Qi-Fang Liu, Ling Ou-Yang

“…IntroductionEndometriosis (EM) is a widely recognized disorder in gynecological endocrinology. Although hormonal therapies are frequently employed for EM, their side effects and outcome limitations underscore the need to explore the genetic basis and potential drug targets for developing innovative therapeutic approaches. …”
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Hereditary Hyperferritinemia-Cataract Syndrome in 3 Generations of a Family in East Tennessee by Heidi A. Worth, Zachary Marlette, David Aljadir, Ronald Lands

“…While investigators have dissected the gene where several responsible mutations reside, it remains a relatively unknown genetic disorder to clinicians. The result is often an expensive, invasive evaluation for iron overload, followed by a well-intended prescription for a series of phlebotomies that delivers morbidity instead of benefit. …”
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Facioscapulohumeral muscular dystrophy: a review of pathogenesis, clinical symptoms, and treatment by T. Mikalauskas, B. Burnytė

“…The disease can present in many ways, from an asymptomatic form to a life dependent on a wheelchair, so it is important for doctors to keep up to date with the latest information so they can identify this genetic disorder faster and help the patient live a full life. …”
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Immune Dysfunction in Tourette Syndrome by Ishraga Elamin, Mark J. Edwards, Davide Martino

“…A similar link has been proposed also for Tourette syndrome (TS), a complex, multifactorial disorder, in which the interplay between genetic, environmental, hormonal and immunological factors might be relevant. …”
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Simultaneous Bilateral Spontaneous Pneumothorax Revealed Birt-Hogg-Dubè Syndrome by Alessandro Tamburrini, Francesco Sellitri, Federico Tacconi, Francesco Brancati, Tommaso Claudio Mineo

“…Birt-Hogg-Dubè syndrome is a rare inherited disorder clinically characterized by multiple fibrofolliculomas, renal tumors, lung cysts, and, in ~24% of the patients, occurrence of spontaneous pneumothorax. …”
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Papillion-Lefèvre Syndrome: Periodontists’ Perspective by Sunil Kumar Biraggari, K. Krishna Mohana Reddy, J. Sudhakar, Shiva Shankar Bugude, Rajesh Nichenametla, Mazher Ahmed Hakeem, Swati Reddy Tiyyagura

“…Genetic studies have identified a mutation in the major gene locus of chromosome 11q14 with loss of function. …”
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Outcomes of dietary interventions in the prevention and progression of Parkinson's disease: A literature review by Ubaid Ansari, Alexi Omid, Dawnica Nadora, Jimmy Wen, Arman Omid, Forshing Lui

“…Parkinson's disease (PD) is a progressive neurodegenerative disorder characterized by motor and non-motor symptoms, primarily due to the degeneration of dopaminergic neurons in the substantia nigra pars compacta (SNpc). …”
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