Case report: Cerebrotendinous Xanthomatosis masquerading as adult ADHD in psychiatric practice by Jongtae Kim, Yun Jeong Hong, Si Baek Lee, Seong Hoon Kim, Myung Ah Lee, Eunbuel Ko, Jeong Wook Park

“…CTX, a genetic disorder impacting lipid metabolism, is often overlooked in differential diagnoses due to its rarity. …”
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Challenges in managing osteogenesis imperfecta in a resource-limited setting: a case report by Ssekabembe Richard, Natumanya Robert, Vanusa Da Consolação Sambo, Abonga Daniel, Okidi Ronald

“…Conclusion This case report underscores the importance of early diagnosis of osteogenesis imperfecta and highlights the need for increased clinical awareness, specialized training, and resource allocation to improve outcomes for patients with rare genetic disorders in low-resource settings.…”
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Liver Transplant From a Deceased Donor With Cystinosis: A Case Report by Raeda Taj, Kim Ng, Sanmati R. Cuddapah, Elizabeth B. Rand, Melissa Bleicher, Sandra Amaral, Maarouf A. Hoteit, Rajendar K. Reddy, Eyob Feyssa, Emma E. Furth, Kim M. Olthoff, Samir Abu‐Gazala, Matthew H. Levine, Frederick Vyas, Peter L. Abt

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The role of immunity in insulin resistance in patients with polycystic ovary syndrome by Qixuan Zhang, Zhe Yang, Xiangyang Ou, Mengying Zhang, Xiangyu Qin, Gengxiang Wu

“…While the precise pathogenesis of PCOS remains unclear, it is now recognized that genetic, endocrine, and metabolic dysregulations all contribute significantly to its onset. …”
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Recent advances in the application of Mendelian randomization to chronic kidney disease by Chaofan Wen, Lanlan Chen, Dan Jia, Ziqi Liu, Yidan Lin, Guan Liu, Shuo Zhang, Baoshan Gao

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Multigene Panel Testing in Turkish Hereditary Cancer Syndrome Patients by Esra ARSLAN ATES, Ayberk TURKYILMAZ, Ceren ALAVANDA, Ozlem YILDIRIM, Ahmet Ilter GUNEY

“…Objective: Hereditary cancer syndromes (HCSs) are a heterogenous group of disorders caused by germline pathogenic variations in various genes that function in cell growth and proliferation. …”
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Editorial: Cellular and molecular mechanisms that govern assembly, plasticity, and function of GABAergic inhibitory circuits in the mammalian brain by Yasufumi Hayano, Yasufumi Hayano, Goichi Miyoshi, Anirban Paul, Hiroki Taniguchi, Hiroki Taniguchi

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Case of surgical treatment of ascending aorta and aortic arch aneurysm in a patient with unclassified connective tissue disease by B.M. Todurov, A.Y. Shkandala, O.V. Zelenchuk, M.F. Rotar, N.S. Gnoyanko

“…The presented case demonstrates possibility of the development of thoracic aorta aneurysm in patients with unclassified connective tissue disorder with Marfan-like phenotype, but also in a number of hereditary syndromes.…”
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Patients with Multiple Functional Gastrointestinal Disorders (FGIDs) Show Increased Illness Severity: A Cross-Sectional Study in a Tertiary Care FGID Specialty Clinic by Sabrina Berens, Felicitas Engel, Annika Gauss, Jonas Tesarz, Wolfgang Herzog, Beate Niesler, Esther Stroe-Kunold, Rainer Schaefert

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Psychosis of Epilepsy: An Update on Clinical Classification and Mechanism by Zhiruo Qiu, Jiahui Guo, Bofei Chen, Jiajia Fang

“…Epilepsy is a prevalent chronic neurological disorder that can significantly impact patients’ lives. …”
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Rheumatoid-like hand deformities and aortic valve disease in a 13-year-old girl with homozygous familial hypercholesterolemia: a case report by Anjuman Ara Rahman, Abhijit Datta, Kamal Uddin Ahmed, Anindita Das Barshan, Mohammad Jahid Hasan

“…Moreover, her family received genetic counseling, and she was scheduled for regular follow-up. …”
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Diagnostic efficiency of exome-based sequencing in pediatric patients with epilepsy by Huafang Zou, Huafang Zou, Qian Zhang, Jianxiang Liao, Jianxiang Liao, Dongfang Zou, Zhanqi Hu, Bing Li, Li Chen, Jialun Wen, Xia Zhao, Victor Wei Zhang, Dezhi Cao, Dezhi Cao

“…ObjectiveEpilepsy, a prevalent neurological disorder, has multifaceted etiologies. Next-generation sequencing (NGS) has emerged as a robust diagnostic tool for this condition. …”
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Association of childhood maltreatment and adverse lifetime experiences with post-injury psychopathology: evidence from the China Severe Trauma Cohort by Shu Wen, Yu Zeng, Yueyao Xu, Shishi Xu, Wenwen Chen, Guanglin Wang, Wei Zhang, Huan Song

“…During the whole follow-up period, the incidence of symptoms of stress-related disorders, anxiety, and depression was 13.86%, 29.89%, and 36.57%, respectively. …”
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Advances in chromosomal microarray analysis: Transforming neurology and neurosurgery by Wireko Andrew Awuah, Muhammad Hamza Shah, Vivek Sanker, Krishitha Meenu Mannan, Sruthi Ranganathan, Princess Afia Nkrumah-Boateng, Mabel Frimpong, Kwadwo Darko, Joecelyn Kirani Tan, Toufik Abdul-Rahman, Oday Atallah

“…In neurology, CMA has revolutionised diagnoses, personalised treatment plans, and patient outcomes. By identifying genetic anomalies linked to neurological conditions, CMA allows clinicians to tailor treatments based on individual genetic profiles, enhancing precision medicine. …”
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Bi-allelic variants in WDR47 cause a complex neurodevelopmental syndrome by Efil Bayam, Peggy Tilly, Stephan C Collins, José Rivera Alvarez, Meghna Kannan, Lucile Tonneau, Elena Brivio, Bruno Rinaldi, Romain Lecat, Noémie Schwaller, Ludovica Cotellessa, Sateesh Maddirevula, Fabiola Monteiro, Carlos M Guardia, João Paulo Kitajima, Fernando Kok, Mitsuhiro Kato, Ahlam A A Hamed, Mustafa A Salih, Saeed Al Tala, Mais O Hashem, Hiroko Tada, Hirotomo Saitsu, Mariano Stabile, Paolo Giacobini, Sylvie Friant, Zafer Yüksel, Mitsuko Nakashima, Fowzan S Alkuraya, Binnaz Yalcin, Juliette D Godin

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Disturbances in the Mechanism of Apoptosis as One of the Causes of the Development of Cancer Diseases by Paweł Rusin, Karolina Jabłońska

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Developmental dysfunction in a preclinical model of Kcnq2 developmental and epileptic encephalopathy by Miaomiao Mao, Nikola Jancovski, Yafit Kushner, Lucas Teasdale, Phan Truong, Kun Zhou, Samuel Reid, Linghan Jia, Ye Htet Aung, Melody Li, Christopher A. Reid, Sean Byars, Ingrid Scheffer, Steven Petrou, Snezana Maljevic

“…Background: Developmental and epileptic encephalopathies (DEE) are rare but severe neurodevelopmental disorders characterised by early-onset seizures often combined with developmental delay, behavioural and cognitive deficits. …”
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Autism spectrum disorder common variants associated with regional lobe volume variations at birth: cross-sectional study in 273 European term neonates in developing human connectom... by Hai Le, Daphna Fenchel, Konstantina Dimitrakopoulou, Hamel Patel, Charles Curtis, Lucilio Cordero-Grande, A. David Edwards, Joseph Hajnal, Jacques-Donald Tournier, Maria Deprez, Harriet Cullen

“…Abstract Increasing lines of evidence suggest cerebral overgrowth in autism spectrum disorder (ASD) children in early life, but few studies have examined the effect of ASD common genetic variants on brain volumes in a general paediatric population. …”
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An Extremely Rare SRD5A2 Gene c.485A>C Mutation in a Compound Heterozygous Newborn with Disorders of Sex Development First Identified in Vietnam by Phan Tuong Quynh Le, Thanh Nha Uyen Le, Thi Thanh Binh Nguyen, Minh Thao Nguyen, Thi Minh Thi Ha

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Clinical Features and Genetic Characteristics of XLID Patients With KDM5C Gene Mutations: Insights on Phenotype–Genotype Correlations From 175 Previous Cases and Identification of... by Mohammad‐Reza Ghasemi, Zahra Esmaeilizadeh, Sahand Tehrani Fateh, Hossein Sadeghi, Saman Bagheri, Farzad Hashemi‐Gorji, Morteza Sheikhi Nooshabadi, Rasoul Madannezhad, Toktam Sadat Tavabe Ghavami, Reza Mirfakhraie, Mohammad Miryounesi

“…ABSTRACT Background X‐linked intellectual disability (XLID) is a genetically heterogeneous disorder that results in cognitive impairment and developmental delays. …”
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