Prenatal Detection of Silver–Russell Syndrome: A First Trimester Suspicion and Diagnostic Approach by Slavyana Galeva, Giuliana Diglio, Boris Stoilov, Ekaterina Uchikova, Lucian Pop

“…<i>Background and Objectives:</i> Silver–Russell Syndrome (SRS) is a rare genetic disorder characterized by prenatal and postnatal growth restriction, distinctive facial features, and body asymmetry. …”
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Role of epigenetics in aetiology and therapies for Type 1 Diabetes Mellitus: A narrative review by Yahaya O Tajudeen, Ufuoma B Shemishere

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Quantifying human genome parameters in aging by V. P. Volobaev, S. S. Kunizheva, L. I. Uralsky, D. A. Kupriyanova, E. I. Rogaev

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Image-Based Face Recognition Techniques Used in Disease Detection Approaches: A Survey by Ghalib Ahmed Salman, Inas Jawad Kadhim, Ahmed Husham Al-Badri

“…These alterations in facial patterns can serve as potential indicators for corresponding diseases, particularly in the fields of endocrinology and metabolism, Muscles-Nervous disorders, Chromosomes, and Genetic disorders, among others. …”
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Successful management of refractory epilepsy in creatine transporter deficiency with cannabidiol and clobazam: A case report by Maria Borrell‐Pichot, Carmen Fons, Susana Boronat, Alba Sierra‐Marcos

“…Plain Language Summary Creatine transporter deficiency (CRTR‐D) is a rare genetic disorder causing mental, behavioral, and movement problems. …”
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Deployment of next-generation sequencing approach for variant detection in myocardial infarction: A concise investigation by Desaraju Suresh Bhargav, Nadeem Siddiqui, Bhadra Murthy V, Vijaya Tartte, Vanaja V

“…Conclusion: To ascertain pathogenicity and role in the emergence of MI-related disorders these genes were mapped to online databases. …”
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Global prevalence of platelet-type von Willebrand disease by Omid Seidizadeh, Andrea Cairo, Maha Othman, Flora Peyvandi

“…Background: Platelet-type von Willebrand disease (PT-VWD) is a rare autosomal dominant disorder. It is caused by gain-of-function gene variants in the platelet GP1BA, which results in excessive binding between GPIbα and von Willebrand factor (VWF). …”
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Relationships between the menstrual cycle and neuropsychiatric and physical symptoms in females with Tourette syndrome by Daisy T. Noriega-Makarskyy, Evan Realbuto, Ariadne Kaylor, Lisa Osiecki, Angela Essa, Dongmei Yu, Dongmei Yu, Cornelia Illmann, Carol A. Mathews, Carol A. Mathews, Carol A. Mathews, Jeremiah M. Scharf, Jeremiah M. Scharf, Jeremiah M. Scharf, Jeremiah M. Scharf, Jeremiah M. Scharf

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Diagnosis, screening, and follow-up of patients with familial interstitial lung disease: Results from an international survey by Emil Vilstrup Moen, Thomas Skovhus Prior, Michael Kreuter, Wim A. Wuyts, Maria Molina-Molina, Marlies Wijsenbeek, Antonió Morais, Argyrios Tzouvelekis, Christopher J. Ryerson, Fabian Caro, Ivette Buendia-Roldan, Jesper M. Magnusson, Joyce S. Lee, Julie Morisett, Justin M. Oldham, Lauren K. Troy, Manuela Funke-Chambour, Maria Laura Alberti, Raphael Borie, Simon L. F. Walsh, Sujeet Rajan, Yasuhiro Kondoh, Yet H Khor, Elisabeth Bendstrup

“…A family history of ILD was asked for by 91% of respondents while fewer asked for symptoms related to telomere disorders. Respondents stated that 59% had access to genetic testing, and 30% to a genetic multidisciplinary team (MDT). …”
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Patterns of psychiatric healthcare use during pandemic times among boys and girls with pre-existing diagnoses: a Norwegian nationwide primary and specialist healthcare registry stu... by Ingunn Olea Lund, Pia Jensen, Christian Madsen, Lars Johan Hauge, Alexandra Havdahl, Anne Reneflot, Ragnhild Brandlistuen, Helga Ask

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Systematic review of bidirectional interaction between gut microbiome, miRNAs, and human pathologies by Lorenzo Drago, Lorenzo Drago, Luigi Regenburgh De La Motte, Loredana Deflorio, Delia Francesca Sansico, Michela Salvatici, Emanuele Micaglio, Manuele Biazzo, Fabiana Giarritiello, Fabiana Giarritiello

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Unlocking the Potential of Receptor-Based Approaches in Diabetes Treatment by Mohsina Patwekar, Faheem Patwekar, J. Pavan Kumar, P. Dharani Prasad, Nazia Malik, A. Venkata Badarinath, Prashanth Parupathi, Konatham Teja Kumar Reddy, Selvaraja Elumalai, Zainul Abedeen Ab Samad

“…Gene therapies show promise as novel strategies to address genetic defects and provide potential treatments. …”
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A study to identify individuals at risk to be affected by late-onset Pompe disease who had previously been given a non-specific or tentative diagnosis for their muscle weakness (Po... by Dawn A. Laney, Kayla A. Banks, Eleanor G. Botha, Maria Keever, Valynne Long, Allison L. Foley

“…Abstract Background Late-onset Pompe disease (LOPD) is an autosomal recessive lysosomal storage disorder that results in severe progressive proximal muscle weakness. …”
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Pharmacological inhibition of carbonic anhydrases with a positively charged pyridinium sulfonamide phenocopies the neuroprotective effects of Car9 genetic ablation in a murine sett... by Sara Amiranda, Mariangela Succoio, Serenella Anzilotti, Ornella Cuomo, Tiziana Petrozziello, Valentina Tedeschi, Arianna Finizio, Giorgia Mele, Seppo Parkkila, Lucio Annunziato, Giuseppina De Simone, Giuseppe Pignataro, Agnese Secondo, Nicola Zambrano

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Sequence-structure based prediction of pathogenicity for amino acid substitutions in proteins associated with primary immunodeficiencies by Ekaterina S. Porfireva, Anton D. Zadorozhny, Anastasia V. Rudik, Dmitry A. Filimonov, Alexey A. Lagunin, Alexey A. Lagunin

“…IntroductionPrimary immunodeficiencies (PIDs) are a group of rare genetic disorders characterized by dysfunction of the immune system components. …”
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How to Manage Low Estriol Levels in Pregnancies, One Center Experience by Elif YILMAZ GULEC, Alper GEZDIRICI, Akif AYAZ, Fatma Nihal OZTURK, Ibrahim POLAT

“…Objective: Low estriol (uE3) levels in the second-trimester screening for Down syndrome may be the result of fetal demise, congenital abnormalities, or some genetic hormonal disorders of the fetus. Although X-linked ichthyosis, a microdeletion syndrome with mild ichthyosis, which causes steroid sulfatase (STS) deficiency, is the most common genetic cause, second-trimester screening tests calculate the risk for a less common and severe disorder known as the Smith Lemli Opitz syndrome (SLOS). …”
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Lentivirus‐mediated gene therapy for Fabry disease: 5‐year End‐of‐Study results from the Canadian FACTs trial by Aneal Khan, Dwayne L. Barber, William M. McKillop, C. Anthony Rupar, Christiane Auray‐Blais, Graeme Fraser, Daniel H. Fowler, Alexandra Berger, Ronan Foley, Armand Keating, Michael L. West, Jeffrey A. Medin

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The autoimmune disease risk variant NCF1-His90 is associated with a reduced risk of tuberculosis in women by Xinjun Hu, Shasha Li, Renliang Huang, Ziwei Fu, Chenyu Ma, Zheng Cheng, Hongjun Hu, Qiaomiao Zhou, Frank Petersen, Xinhua Yu, Xinhua Yu, Junfeng Zheng

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Gene networks and metabolomic screening analysis revealed specific pathways of amino acid and acylcarnitine profile alterations in blood plasma of patients with Parkinson’s disease... by A. A. Makarova, P. M. Melnikova, A. D. Rogachev, P. S. Demenkov, T. V. Ivanisenko, E. V. Predtechenskaya, S. Y. Karmanov, V. V. Koval, A. G. Pokrovsky, I. N. Lavrik, N. A. Kolchanov, V. A. Ivanisenko

“…Regulatory pathways to the enzymes converting significant metabolites were found from PD­specific genetic markers, VP­specific genetic markers, and the group of genetic markers common to the two diseases. …”
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Editorial: Intergenerational impacts of perinatal mental health by Andri Christoforou, Elif Aysimi Duman, Elif Aysimi Duman, Rafael A. Caparros-Gonzalez, Rafael A. Caparros-Gonzalez

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