Clinical and Genetic Characterization of Adolescent-Onset Epilepsy: A Single-Center Experience in Republic of Korea by Ji Yoon Han, Tae Yun Kim, Joonhong Park

“…This study underscores the importance of genetic testing as an essential diagnostic tool for AOE. …”
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Case Report: A potentially pathogenic new variant of the REN gene found in a family experiencing autosomal dominant tubulointerstitial kidney disease by Jingyu Ma, Jingyu Ma, Zhijuan Hu, Qiong Liu, Jing Li, Jing Li, Jiejie Li, Jiejie Li

“…In addition, the importance of family history and genetic testing in confirming the diagnosis is emphasized. …”
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Case report: Hypoparathyroidism-sensorineural hearing loss-renal dysplasia without febrile seizures: a novel mutation in the GATA3 gene by Haibin Chen, Haibin Chen, Yudi Zhang, Xueyao Yang, Xueyao Yang, Yongzhen Li

“…The missense mutation was determined to be both pathogenic and novel.ConclusionEarly genetic testing should be prioritized, and regular monitoring of kidney development and hearing status is essential. …”
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Chronic Benign Tubular Albuminuria From Compound Heterozygous Variants in : A Case Report by Adam Pietrobon, Mark D. Elliott

“…Outcomes: Kidney biopsy was not pursued for this patient as diagnostic clarification was achieved by non-invasive genetic testing alone. Novel findings: This case highlights several important lessons. …”
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A Case of Thyroid Hormone Resistance Syndrome with a Novel Mutation (c.947G>a) in the THRB Gene: Experience in Diagnosis and Treatment by Liu J, Wei Y, Zhu Y, Li Y, Wang Q, Yu L, Zhuang L, Jin G, Pei X

“…The patient was finally diagnosed with RTH after genetic testing that identified a gene mutation inherited from his mother. …”
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Mannose phosphate isomerase-congenital disorder of glycosylation leads to asymptomatic hypoglycemia by Cheng Luo, Danxia Peng, Yanyan Li, Shuping Liu, Qiong Wu, Xuan Xu, Jie Wen

“…Herein, we reported a case of a 4-month-old baby with MPI-CDG confirmed by genetic testing. Case summary: Based on the age of the child and the present clinical symptoms (feeding difficulties, intractable diarrhea, vomiting, hepatosplenomegaly, recurrent hypoglycemia, coagulation disorder, and hypoproteinemia under the premise of anti-infection therapy), congenital glycosylation disorder was suspected, which was then confirmed by genetic testing. …”
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VIPAS39 related arthrogryposis-renal dysfunction-cholestasis syndrome—case report and systematic review by Jan Kafol, Barbara Gnidovec Strazisar, Ana Drole Torkar, Matjaz Homan, Sara Bertok, Matej Mlinaric, Jaka Sikonja, Jernej Kovač, Mirjana Perkovic Benedik, Tanja Kersnik Levart, Mojca Zerjav Tansek, Marina Praprotnik, Tadej Battelino, Maruša Debeljak, Urh Groselj

“…Increased awareness and comprehensive genetic testing are crucial for early and accurate diagnosis.…”
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Voriconazole: a review of adjustment programs guided by therapeutic drug monitoring by Li Jiang, Zhiqiang Lin

“…Recommendations for presenting dosing programs based on different CYP2C19 genotypes are inconsistent, and genetic testing is not routinely recommended prior to dosing from a pharmacoeconomic perspective. …”
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Arnold-Chiari Malformation Type II and CYP1B1 Congenital Glaucoma: A Possible Association by Shaikha Aldossari, Amani Al Bakri, Yumna Kamal

“…Neurological exam showed paraparesis and moving upper extremities and has axial hypotonia. Genetic testing showed CYP1B1 gene mutation. Conclusion. …”
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The genotype and phenotype analysis in 3 cases with the rare genotype of HBB:c.316-146T > G by Yan-Bin Cao, Yi-Yuan Ge, Long-Xu Xie, Guang-Kuan Zeng, Bai-Ru Lai, Xiao-Hua Yu, Jian-Lian Liang, Li-Ye Yang

“…If the hematological phenotype does not match the results of genetic testing, further detection techniques such as Sanger sequencing, MLPA, next-generation sequencing (NGS), etc. are required to avoid missing rare or novel mutation types.…”
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The Genetic Basis of Non-Contact Soft Tissue Injuries-Are There Practical Applications of Genetic Knowledge? by Beata Borzemska, Paweł Cięszczyk, Cezary Żekanowski

“…On the other hand, novel genetic testing methods identify numerous variants of uncertain physiological relevance. …”
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Nursing Records Regarding Decision-Making in Cancer Supportive Care: A Retrospective Study in Japan by Yuko Kawasaki, Manab Nii, Eina Nishioka

“…Decisions most frequently regarded palliative care unit admission (25 cases) and genetic testing (24 cases). The assessment category covered keywords including (1) “pain,” “treatment,” “future,” “recuperation,” and “home,” as terms related to palliative care and internal medicine, as well as (2) “treatment,” “relief,” and “genetics” as terms related to breast oncology. …”
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Hearing Screening Combined with Target Gene Panel Testing Increased Etiological Diagnostic Yield in Deaf Children by Le Xie, Yue Qiu, Yuan Jin, Kai Xu, Xue Bai, Xiao-Zhou Liu, Xiao-Hui Wang, Sen Chen, Yu Sun

“…Genetic testing is the gold standard for exploring the etiology of congenital hearing loss. …”
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Current Approach of Functioning Head and Neck Paragangliomas: Case Report of a Young Patient with Multiple Asynchronous Tumors by Alejandro Terrones-Lozano, Alan Hernández-Hernández, Edgar Nathal Vera, Gerardo Yoshiaki Guinto-Nishimura, Jorge Luis Balderrama-Bañares, Claudia Ramírez-Rentería, Judith de la Serna-Soto, Alfredo Adolfo Reza-Albarran, Lesly Portocarrero-Ortiz

“…However, different phenotypes can be observed depending on such germline mutations. Genetic testing is important in patients with PCPG since 31% will present a germline mutation. …”
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Unusual familial cystic kidney disease: combining fine radiologic and genetic evaluation to solve the case by Sylvain Bodard, Rim Nabbout, Olivier Hélénon, Bertrand Knebelmann

“…Her sister, presenting with controlled hypertension and similar ultrasound findings, also had her initial ADPKD diagnosis refuted by MRI and genetic testing, which revealed no significant mutations. …”
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CLINICAL CASE OF KUGELBERG – WELANDER DISEASE (SPINAL MUSCULAR ATROPHY TYPE III) by Yu. N. Bykov, Yu. N. Vasyliev, T. N. Zagvozkina, I. V. Anikina, T. A. Tarasova, S. V. Vasilkova, Yu. S. Plekhanova

“…In young people with a clinical diagnosis of neuromuscular disease, genetic testing is required to clarify the diagnosis and further treatment tactics.…”
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A low-fat amino acid diet reverses intestinal failure and shows good growth trends in five infants with diacylglycerol transferase 1 (DGAT1) deficiency: a prospective cohort study by Yuanyuan Zheng, Yongzhen Li, Cuifang Zheng, Lin Yang, Chongfan Zhang, Ying Huang, Yuhuan Wang, Tian Qian

“…Results Due to poor weight gain and gastrointestinal symptoms after birth, infants were treated by our clinical nutritionist. Genetic testing confirmed a compound heterozygous mutation in DGAT1. …”
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Case Report: Early acute kidney failure in an 11-year-old boy with Dent disease type 1 by Nicolette Murphey, Craig Authement, Paul Hillman, Samhar I. Al-Akash, Kate Richardson

“…Due to his symptoms and a strong family history, the patient underwent genetic testing that detected a novel pathogenic variant in CLCN5 [c.791dup (p.Ser265Glnfs*3)]. …”
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Identification of rare atypical BCR-ABL1 transcript: A case report by Jayesh Saha, Vipin Gopinath, Chandran K. Nair, Deepak Roshan

“…Here, a case is described of chronic myeloid leukemia presenting in the blast phase with a rare variant transcript, with a discussion on possible red flags in its detection and genetic testing and description of the patient's clinical characteristics. …”
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Torsades De Pointes Electrical Storm Induced by H1N1 in a Patient with KCNH2 Variant of Unknown Significance by Bashar Khiatah, Jonathan Dukes, Christina Desai, Amanda Frugoli

“…This case highlights the dilemma of evaluating novel genetic testing results in a clinical setting.…”
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