Lung adenocarcinoma metastasis within a pituitary neuroendocrine tumor: a case report with review of literature by Koji Suzuki, Shigeyuki Tahara, Yujiro Hattori, Shinichiro Teramoto, Eitaro Ishisaka, Chie Inomoto, Robert Yoshiyuki Osamura, Akio Morita, Yasuo Murai

“…Thus, the patient was diagnosed with lung adenocarcinoma metastasis within a gonadotroph PitNET. Genetic testing revealed the presence of an EGFR (Ex-19del) mutation, after which chemotherapy was initiated. …”
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A Single Lung Transplant in a Patient with Fabry Disease: Causality or Far-Fetched? A Case Report by Martina Gaggl, Renate Kain, Peter Jaksch, Dominik Haider, Gerald Mundigler, Till Voigtländer, Raute Sunder-Plassmann, Paulus Rommer, Walter Klepetko, Gere Sunder-Plassmann

“…Later, a kidney biopsy revealed the diagnosis of Fabry disease, which was confirmed by enzymatic and genetic testing. Ultrastructural changes in a native lung biopsy were consistent with the diagnosis. …”
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Increased Phenotype Severity Associated with Splice-Site Variants in a Hungarian Pediatric Neurofibromatosis 1 Cohort: A Retrospective Study by Klára Veres, Benedek Nagy, Zsófia Ember, Judit Bene, Kinga Hadzsiev, Márta Medvecz, László Szabó, Zsuzsanna Zsófia Szalai

“…<b>Results:</b> Among the cohort of 204 patients, 148 subjects fulfilled ≥2 criteria established by the National Health Institute. Genetic testing was performed in 70 patients, with an 82.8% detection rate, of which 13 patients were excluded. …”
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Examining the Formalin Fixation Method for Maintaining High RNA Quality in Surgical Lung Specimens by Takashi Teishikata, Manabu Itoh, Yusuke Okamoto, Naofumi Miyahara, Chiho Nakashima, Koichiro Takahashi, Masafumi Hiratsuka, Keita Kai, Keiji Kamohara

“…ABSTRACT Background Multiplex genetic testing is recommended when treating nonsmall cell lung cancer. …”
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A novel de novo GABRA2 gene missense variant causing developmental epileptic encephalopathy in a Chinese patient by Li Yang, Xingyu Wan, Ran Hua, Junhong Jiang, Baotian Wang, Rui Tao, De Wu

“…Results The 6‐year‐old male proband presented with seizures starting at age two, along with global developmental delay and hypotonia. Genetic testing revealed a heterozygous de novo variant in GABRA2 gene (NM_000807: c.923C>T, p.Ala308Val). …”
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Familial Hypercholesterolemia: Genetics, Symptoms, Diagnosis and Treatment - A Literature Overview by Maciej Rutkiewicz, Sabina Przygodzka, Katarzyna Gadżała, Karolina Garbino, Katarzyna Brudniak, Antoni Szuścik, Magdalena Czyczerska

“…A definite diagnosis can be approved by genetic testing, which shows a causable mutation. The main goal in treatment therapy of familial hypercholesterolemia is to reduce the concentration of  LDL-C in serum. …”
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Informatics strategies for early detection and risk mitigation in pancreatic cancer patients by Di Jin, Najeeb Ullah Khan, Wei Gu, Huijun Lei, Ajay Goel, Tianhui Chen

“…This review underscores the importance of universal genetic testing and the integration of AI with traditional diagnostic methods to improve outcomes in high-risk individuals. …”
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Mutations in the ARAP3 Gene in Three Families with Primary Lymphedema Negative for Mutations in Known Lymphedema-Associated Genes by Maurizio Ricci, Rita Compagna, Bruno Amato, Sercan Kenanoglu, Dominika Veselenyiova, Danjela Kurti, Mirko Baglivo, Syed Hussain Basha, Roberta Serrani, Giacinto Abele Donato Miggiano, Barbara Aquilanti, Giuseppina Matera, Giuseppe Marceddu, Valeria Velluti, Lucilla Gagliardi, Munis Dundar, Juraj Krajcovic, Matteo Bertelli

“…Based on our results, we propose that variants in ARAP3 could be included in genetic testing for lymphedema.…”
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Recalcitrant Female Pattern Hair Loss Like Alopecia Unveils Unexpected Rare Entity by Nouh AH, Elgendy FM, Gobran FA, Zhuravlova MS

“…It typically presents as sparse hair at birth with a coarse texture, followed by regrowth during childhood then, finally, gradual hair loss at puberty, resembling pattern of androgenetic alopecia.Case Presentation: The study describes two cases from different unrelated families presenting with recalcitrant alopecia resembling female pattern hair loss, with dermoscopic findings consistent with pili torti and yellow dots. Genetic testing confirmed a heterozygous pathogenic variant in the HRURF gene, associated with autosomal dominant Marie Unna Hereditary Hypotrichosis. …”
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Auditory Phenotype of a Novel Missense Variant in the CEACAM16 Gene in a Large Russian Family With Autosomal Dominant Nonsyndromic Hearing Loss by Tatiana G. Markova, Natalia N. Alekseeva, Oxana P. Ryzhkova, Olga L. Shatokhina, Anna A. Orlova, Viktoriia V. Zabnenkova, Olga S. Groznova, Olesya V. Sagaydak, Svetlana S. Chibisova, Alexander V. Polyakov, George A. Tavartkiladze

“…METHODS: A detailed anamnesis was collected, and a comprehensive audiological examination was performed for 21 family members. Genetic testing was performed, including whole-genome sequencing for the proband’s son and Sanger sequence analysis for the proband and for all available family members. …”
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Clinical Features of Optic Disc Drusen in an Ophthalmic Genetics Cohort by Jasmine Y. Serpen, Lev Prasov, Wadih M. Zein, Catherine A. Cukras, Denise Cunningham, Elizabeth C. Murphy, Amy Turriff, Brian P. Brooks, Laryssa A. Huryn

“…Demographic information, examination, and genetic testing were reviewed. Disc areas and disc-to-macula distance to disc diameter ratios (DM : DD) were calculated. …”
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Overt Hypothyroidism and Severe Growth Retardation in a Preschool Girl with Poorly Controlled Nephrotic Syndrome: Case Report and Literature Review by Joana Mikulevič, Karolina Tumelienė, Robertas Kemežys, Augustina Jankauskienė

“…Kidney biopsy revealed minimal change disease, and genetic testing was negative. Intensive NS treatment with methylprednisolone pulse therapy, enlarged doses of MMF and albumin infusion were started and L-thyroxine dose was increased to 75 mcg. …”
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Pharmacodynamic Modeling of Warfarin Dosing Algorithm for Cardiovascular Patients in Indonesia: A Tailored Method to Anticoagulation Therapy by Putriana NA, Latarissa IR, Rusdiana T, Rostinawati T, Akbar MR

“…Blood samples were obtained for genetic testing of CYP4F2 rs2108622 (sequencing). Statistical analyses included both bivariate and multivariate analyses (logistic regression) with a significance level set at < 0.05.Results: Statistical analysis using the Kruskal–Wallis test showed that the CC, CT, and TT genotypes were significantly associated with warfarin dose (p = 0.02). …”
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Monozygotic twins with myocarditis and a novel likely pathogenic desmoplakin gene variant by Antheia Kissopoulou, Eva Fernlund, Christina Holmgren, Eira Isaksson, Jan‐Erik Karlsson, Henrik Green, Jon Jonasson, Rada Ellegård, Hanna Klang Årstrand, Anneli Svensson, Cecilia Gunnarsson

“…Nevertheless, our data suggest that irrespective of a possible link here to ARVC, genetic testing for arrhythmogenic cardiomyopathy might be advisable for patients with recurrent myocarditis associated with a family history of myocarditis.…”
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Multimodal Magnetic Resonance Findings in Parkinson&rsquo;s Disease With &ldquo;Antecedent Essential Tremor&rdquo;: A Case Series of a Large Kindred by Kong Y, Yao L, Xiao X, Chen A, Wang K, Yan H, Sun R, Liu R, Kong Q

“…The clinical characteristics, genetic testing and multimodal MRI data of 16 family members were collected. …”
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Systemic Diseases in Patients with Congenital Aniridia: A Report from the Homburg Registry for Congenital Aniridia by Jessica Obst, Fabian N. Fries, Maryam Amini, Annamária Náray, Cristian Munteanu, Tanja Stachon, Shweta Suiwal, Neil Lagali, Berthold Seitz, Barbara Käsmann-Kellner, Nóra Szentmáry

“…Results Data from 337 patients (mean age 22 ± 20 [0.3–90] years; 181 women [53.7%]) were analyzed. Genetic testing was performed in 187 (55.5%) patients. …”
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A rare splice site mutation in the gene encoding glucokinase/hexokinase 4 in a patient with MODY type 2 by D. E. Ivanoshchuk, E. V. Shakhtshneider, A. K. Ovsyannikova, S. V. Mikhailova, O. D. Rymar, V. I. Oblaukhova, A. A. Yurchenko, M. I. Voevoda

“…When nonclassical diabetes mellitus is being diagnosed in young people and pregnant women, genetic testing is needed to verify the diagnosis and to select the optimal treatment method.…”
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Clinical features and genetic analysis of 15 Chinese children with dent disease by Qian Li, Zhenle Yang, Ruixian Zang, Suwen Liu, Lichun Yu, Jing Wang, Cong Wang, Xiaoyuan Wang, Shuzhen Sun

“…Protein electrophoresis and genetic testing can help to provide an early and correct diagnosis.…”
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Preliminary study assessing the long-term surgical outcomes of TBX6-associated congenital scoliosis (TACS) patients using the propensity score matching method: exploring the clinic... by Guanfeng Lin, Yang Yang, Zefu Chen, Sen Zhao, Yuchen Niu, You Du, Yiwei Zhao, Shengru Wang, Nan Wu, Jianguo Zhang

“…TACS was identified in genetic testing for CS. After propensity score matching, patients with TACS were matched with patients with NTACS according to sex, age, main curvature, classification, deformity location, surgical methods, fusion segment and number of fusions. …”
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Whole genome sequencing in early onset advanced heart failure by Erik Linnér, Tomasz Czuba, Olof Gidlöf, Jakob Lundgren, Entela Bollano, Maria Hellberg, Selvi Celik, Neha Pimpalwar, Philipp Rentzsch, Molly Martorella, Anders Gummesson, Olle Melander, Sebastian Albinsson, Göran Dellgren, Jan Borén, Anders Jeppsson, R. Thomas Lumbers, Sonia Shah, Johan Nilsson, Pradeep Natarajan, Tuuli Lappalainen, Malin Levin, Hans Ehrencrona, J. Gustav Smith

“…Abstract The genetic contributions to early onset heart failure (HF) are incompletely understood. Genetic testing in advanced HF patients undergoing heart transplantation (HTx) may yield clinical benefits, but data is limited. …”
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