Diagnosis and treatment of polycystic ovary syndrome by Ronelsys Martínez Martínez, Raúl González Salas, Ariel Leonardo Alarcón Vela, Diana Sofía Iglesias Espín

“…Polycystic ovary syndrome is an endocrine-genetic-gynecological disorder that mainly affects women of childbearing age, with manifestations of hyperandrogenism and infertility in early stages of life. …”
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Costello Syndrome. A case report by Yadelis Maldonado Martínez, Alexander Torres Molina, Diorgis Duran Lobaina

“…Costello syndrome is an extremely rare multisystem congenital disorder; only about 250 cases have been described in the literature. …”
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Complete Morris Syndrome. Case Presentation by Manyeles Brito Vázquez, Ángela Belkis Brito García, Delvis Batista García

“…Androgen insensitivity syndrome, Morris syndrome or testicular feminization is a disorder in sexual differentiation, in which the individual is phenotypically feminine, but with a man's genetic characteristics. …”
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Nonfamilial Juvenile Polyposis Syndrome with Exon 5 Novel Mutation in SMAD 4 Gene by Amna Ahmed, Badr Alsaleem

“…Juvenile polyposis syndrome (JPS) is a rare autosomal dominant hereditary disorder, characterized by multiple juvenile polyps in the gastrointestinal tract and an increased risk of colorectal cancer. …”
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Cervical artery dissection: ethiopathogenesis, symptoms, diagnosis and treatment (literature review) by I. Zagorskienė, A. Paplauskaitė, J. Valaikienė

“… Cervical artery dissection (CAD) is considered a rare disorder, but among young adults it is a common cause of stroke (causes about 25% of strokes in young adults). …”
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Successful Pulmonary Endarterectomy in a Patient with Klinefelter Syndrome by E. Wierda, H. J. Reesink, H. Bruining, O. M. van Delden, J. J. Kloek, P. Bresser

“…Klinefelter syndrome (KS) is a frequent genetic disorder due to one or more supernumerary X chromosomes. …”
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Nail-Patella Syndrome Associated with Short Stature: A Case Series by Samir Haddad, Leila Ghedira-Besbes, Chahra Bouafsoun, Sabeur Hammami, Slaheddine Chouchene, Chebil Ben Meriem, Mohamed-néji Guediche

“…Nail-patella syndrome (NPS) is a rare genetic disorder that is characterized by a pleiotropic malformation affecting the nail, the skeleton, and occasionally the central nervous system and the kidneys. …”
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Synaptic Cell Adhesion Molecules in Alzheimer’s Disease by Iryna Leshchyns’ka, Vladimir Sytnyk

“…Alzheimer’s disease (AD) is a neurodegenerative brain disorder associated with the loss of synapses between neurons in the brain. …”
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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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The Unforeseen Diagnosis: Hyperparathyroidism-Jaw Tumour Syndrome Case Report and Review of the Literature by Maxim Barnett, Farhan Ahmed, Radu Mihai, Asha Rattan, Malik Asif Humayun

“…Medical professionals must avoid diagnostic overshadowing and display a low threshold for genetic testing in younger patients with primary hyperparathyroidism. …”
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Chromosomal analysis and short-term outcome of prenatally diagnosed congenital heart disease by Marcellino Verbeke, Laurens Hannes, Koen Devriendt, Kris Van den Bogaert, Bjorn Cools, Luc De Catte, Marc Gewillig, Jeroen Breckpot

“…Interestingly, a prenatal genetic diagnosis was negatively correlated with pregnancy continuation, but it was not a significant predictor for postnatal mortality, while a postnatal diagnosis of a genetic disorder impacted early but not late postnatal mortality. …”
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A novel frameshift variant of GATA3 (p.Ala17ProfsTer178) responsible for HDR syndrome in a Japanese family by Yutaka Hasegawa, Toshie Segawa, Ai Chida, Eriko Yoshida, Hirofumi Kinno, Hiraku Chiba, Tomoyasu Oda, Yoshihiko Takahashi, Koji Nata, Yasushi Ishigaki

“…HDR syndrome is an autosomal dominant disorder characterized by hypoparathyroidism (H), deafness (D), and renal dysplasia (R) caused by genetic variants of the GATA3 gene. …”
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Infusion of Autologous Retrodifferentiated Stem Cells into Patients with Beta-Thalassemia by Ilham Saleh Abuljadayel, Tasnim Ahsan, Huma Quereshi, Shakil Rizvi, Tamseela Ahmed, Sabiha Mirza Khan, Jawaid Akhtar, Ghazi Dhoot

“…Beta-thalassemia is a genetic, red blood cell disorder affecting the beta-globin chain of the adult hemoglobin gene. …”
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Identification of a pathogenic founder variant in the WFS1 gene that causes Wolfram syndrome in the Druze population by Inbal Halabi, Inbal Halabi, Yardena Tenenbaum-Rakover, Yardena Tenenbaum-Rakover, Lena Sagi-Dain, Lena Sagi-Dain, Lena Sagi-Dain, Ilana Koren, Ilana Koren, Ilana Koren

“…ContextWolfram syndrome (WS) is an autosomal recessive neurodegenerative disorder caused by pathogenic variants in the WFS1 gene. …”
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Experiences of change following a blended intervention for adults with ADHD and emotion dysregulation: a qualitative interview study by Emilie S. Nordby, Viktor Schønning, Alice Barnes, Hayley Denyer, Jonna Kuntsi, Astri J. Lundervold, Frode Guribye

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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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Role of Imaging in the Diagnosis and Management of Complete Androgen Insensitivity Syndrome in Adults by Marco Nezzo, Pieter De Visschere, Guy T'Sjoen, Steven Weyers, Geert Villeirs

“…Complete androgen insensitivity syndrome is an X-linked recessive androgen receptor disorder characterized by a female phenotype with an XY karyotype. …”
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Novel Trends in Electrochemical Biosensors for Early Diagnosis of Alzheimer’s Disease by Pavla Valkova, Miroslav Pohanka

“…Alzheimer’s disease (AD) is a multifactorial progressive and irreversible neurodegenerative disorder affecting mainly the population over 65 years of age. …”
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Incidental imaging detection of Kartagener syndrome in a female: A case report by Natasha Dhakal, MBBS, Prajwal Dahal, MD

“…Kartagener syndrome is a rare ciliopathic genetic disorder characterized by a triad of chronic sinusitis, situs inversus, and bronchiectasis. …”
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An Indian Case Study on Mitochondrial Neurogastrointestinal Encephalomyopathy by Shabana Kareem, Reemy Sara Mathai

“…Despite its genetic origin, the study indicates that the manifestation of MNGIE does not strictly adhere to a hereditary pattern. …”
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