Complete remission in an advanced hepatocellular carcinoma patient with AXIN1 mutation after systemic therapy: A case report by Yihong Ran, Xiaozhun Huang, Xu Che, Dong Chen

“…Here, we present an exceptional case study in which a systematic regimen without immune checkpoint inhibitors was chosen based on the patient's specific genetic test results. Remarkably effective with long-term survival benefits were observed as a result. …”
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Beyond DNA: An Integrated and Functional Approach for Classifying Germline Variants in Breast Cancer Genes by T. Pesaran, R. Karam, R. Huether, S. Li, S. Farber-Katz, A. Chamberlin, H. Chong, H. LaDuca, A. Elliott

“…Genetic testing for hereditary breast cancer is an integral part of individualized care in the new era of precision medicine. …”
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Desmin‐related myopathy characterized by non‐compaction cardiomyopathy, cardiac conduction defect, and coronary artery dissection by Ran Tamiya, Yuki Saito, Daisuke Fukamachi, Koichi Nagashima, Yoshihiro Aizawa, Kimie Ohkubo, Takumi Hatta, Akira Sezai, Masashi Tanaka, Taisuke Ishikawa, Naomasa Makita, Naokata Sumitomo, Yasuo Okumura

“…Our case findings suggest that clinicians should genetically test patients who have cardiomyopathy, progressive cardiac conduction defect, and coronary artery dissection, even if the patient has neither family history of DRM nor skeletal muscle symptoms.…”
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Mitochondrial Neurogastrointestinal Encephalomyopathy: Novel Pathogenic Mutation in Thymidine Phosphorylase Gene in a Patient from Cape Verde Islands by Catarina Falcão de Campos, Miguel Oliveira Santos, Rafael Roque, Isabel Conceição, Mamede de Carvalho

“…The diagnosis is established by the presence of typical clinical and neuroimaging features, positive family history, and abnormal genetic test. A 19-year-old Cape Verdean patient with a history since childhood of recurrent episodes of nausea, vomiting, diarrhoea and painful abdominal distension associated with progressive motor disability with difficulty in climbing stairs and running and clumsiness with her hands. …”
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Systemic Lupus Erythematosus Complicated with Hypertrophic Cardiomyopathy: A Case Report and Literature Review by Huihui Ma, Xin Cao, Jing Zhang, Yongmei Zhou, Rong Luo, Tao He, Jianhong Tao, Xiaoping Li

“…Cardiac magnetic resonance (CMR) showed that the walls of the left ventricular (LV) were significantly thickened, as about 21 mm, mainly in the middle and lower segments. Genetic tests showed no known or suspected pathogenic variations were found and no significant enhancement in CMR, so secondary HCM was diagnosed clinically. …”
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Retinal Ischemia as a Presenting Ocular Sign of Neurofibromatosis Type 2 by Binbin Zhao, Yan Yan

“…Brain MRI showed bilateral acoustic neuroma, parasellar meningioma, and cervical extramedullary tumor. The genetic test confirmed the diagnosis of NF2. Conclusions and Importance. …”
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Orthopedic Manifestations of Bruck Syndrome: A Case Series with Intermediate to Long-term Follow-Up by Adolfredo Santana, Geovanny Oleas-Santillán, Jeanne M. Franzone, L. Reid Nichols, J. Richard Bowen, Richard W. Kruse

“…Data were collected from medical records, radiographs, dual-energy X-ray absorptiometry (DEXA) scans, genetic tests, and gait analysis. All had contractures at birth and genotypic findings including mutations in PLOD2 or FPKB10. …”
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Diagnostic challenge in chondromyxoid fibroma clinically mimicking neuroma by Aleksandra Izabela Masłowska, Julia Sołek, Paulina Jagodzińska-Mucha, Marcin Braun, Hanna Romańska

“…This case demonstrates the ambiguity of the CMF presentation, the accurate diagnosis of which may frequently rely on additional diagnostic measures, including histopathology and targeted genetic tests. Furthermore, this report illustrates an atypical diagnostic journey, from an initial neuroma through a low-grade osteosarcoma, to a final benign chondromyxoid fibroma.…”
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1q21.1 Duplication Syndrome and Anorectal Malformations: A Literature Review and a New Case by Maria Minelli, Chiara Palka Bayard de Volo, Melissa Alfonsi, Serena Capanna, Elisena Morizio, Maria Enrica Miscia, Gabriele Lisi, Liborio Stuppia, Valentina Gatta

“…Case presentation: The present case describes a male, referred to us for an ARM, in whom array—comparative genomic hybridization (array-CGH) identified 1q21.1 duplication inherited from his healthy mother. No other genetic test was performed on the patient. Conclusions: We propose considering genetic evaluation and analysis in patients with only one congenital malformation in order to eventually make an early diagnosis and a better quality of treatments.…”
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Congenital Anomalies and Termination of Pregnancy in Iran by Bahram Samadirad, Zhila Khamnian, Mohammad Bager Hosseini, Saeed Dastgiri

“…The proportion of other screening tests including amniocentesis and genetic tests were 2.8 and 4.6 percent, respectively. …”
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Haploidentical stem cell transplantation with posttransplant cyclophosphamide in children with Wiskott–Aldrich syndrome: a case report by Le Nguyen Ngoc Quynh, Binh Nguyen Thanh, Lien Luong Thi, Thuy Nguyen Thi Dieu, Duong Dang Anh, Pamela P. Lee, Tung Cao Viet, Dien Tran Minh

“…The diagnosis of WAS was quickly confirmed by genetic test. He received immunoglobulin replacement therapy and antimicrobial prophylaxis and underwent HSCT at 4 years 3 months of age. …”
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Successful Management of Pheochromocytoma Detected in Pregnancy by Interval Adrenalectomy in a VHL Patient by V. T. S. Kaluarachchi, Uditha Bulugahapitiya, Maulee Arambewela, Sonali Gunathilake

“…Even though clinical criteria for Von Hippel Lindau disease were fulfilled, her VHL genetic test was negative. At present she and her family are under surveillance of the endocrine team.…”
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Experimental approach to obtaining subcutaneous xenograft of non-small cell lung cancer by E. A. Lukbanova, M. V. Mindar, E. A. Dzhenkova, A. Yu. Maksimov, A. S. Goncharova, Yu. S. Shatova, A. A. Maslov, A. V. Shaposhnikov, E. V. Zaikina, Yu. N. Lazutin

“…A histological analysis and genetic tests for the presence of EGFR mutations were performed for donor tumors from 3 patients and the corresponding xenografts in the third passage.Results. …”
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Gastroenterological Surgery and Management of Clostridioides difficile Infection: A Review by Tomonori Takano, Hiroyuki Aiba, Mitsuo Kaku, Hiroyuki Kunishima

“…CDI can be diagnosed with high specificity using the nucleic acid amplification test, a genetic test for C. difficile toxins. The risk factors for CDI include age 65 years; history of antimicrobial use; previous hospitalization; history of gastrointestinal surgery, chronic kidney disease, or inflammatory bowel disease; nasal tube feeding; and use of proton pump inhibitors and histamine H2 receptor antagonists. …”
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PYROSEQUENCING: ITS POTENTIAL AND LIMITATIONS IN DIAGNOSIS OF INHERITED DISEASES IN CATTLE by Н. A. Kirsanova, A. V. Sukhoedova, M. A. Pleskacheva, I. V. Soltynskaya, I. A. Timofeeva, О. V. Prasolova, E. V. Krylova

“…The use of the proposed genetic tests to detect mutant alleles, as well as reduced use of mutation-bearing animals in stock breeding will allow minimizing the occurrence of inherited diseases and thus improving the gene pool of cattle in the country.…”
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Cystic Fibrosis and Reproductive Outcomes: The Latest Insights into Fertility and Pregnancy by Weronika Małagocka, Karol Zagórski, Mateusz Kozik, Nina Skalska-Dziobek, Karolina Chybowska, Maria Naruszewicz, Przemysław Cetnarowski

“…Reduced fertility may be overcome with assisted reproduction technologies, which also gives an opportunity to do preimplantation genetic tests. CFTR modulators therapy during the pregnancy was described in a small number of studies, but the current experts statement declares that those drugs are probably safe for the infant, and discontinuing this therapy is connected with an increased risk of pulmonary exacerbation in mothers.   …”
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Contralateral Prophylactic Mastectomy among Women with Pathogenic Variants in BRCA1/2: Overall Survival, Racial, and Ethnic Differences by Sukh Makhnoon, Angelica M. Gutierrez Barrera, Roland Bassett, Aimaz Afrough, Isabelle Bedrosian, Banu K. Arun

“…We retrospectively reviewed the medical records of women with a personal history of unilateral breast cancer carrying pathogenic variants in BRCA1/2 who were diagnosed between 1996 and 2012. Genetic test results, self-reported demographic characteristics, and clinical factors were abstracted from electronic medical records. …”
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Efficacy and safety of once-weekly semaglutide monotherapy in a young subject with Prader-Willi syndrome, obesity, and type 2 diabetes: a case report by Elisa Dinoi, Giuseppe Daniele, Giuseppe Daniele, Angela Michelucci, Fulvia Baldinotti, Fabrizio Campi, Piero Marchetti, Stefano Del Prato, Angela Dardano, Angela Dardano

“…Based on clinical presentation, PWS was suspected, and diagnosis was confirmed by genetic tests. The patient was discharged on a basal-bolus insulin therapy managed by his parents due to his cognitive impairment. …”
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SMARCA4-related Coffin-Siris syndrome in newborn: a case report and literature review by Yuqian Wang, Li Zhang, Jing Zhu, Liu Yang, Chan Wang, Ning Zou

“…ObjectiveOur objective was to examine the clinical and genetic features of Coffin-Siris syndrome resulting from a pathogenic variant in the SMARCA4 gene.MethodsThe clinical data and molecular genetic test results of a newbron with Coffin-Siris syndrome involving a pathogenic variant in the SMARCA4 gene were retrospectively analyzed, and the related literatures were reviewed.ResultsA newborn exhibited inspiratory dyspnea following birth and developmental anomalies (coarse appearance, thick hair, long eyelashes, broad nasal tip, flat nasal bridge, thin upper lip, thick lower lip, digital anomalies, cleft palate, supraglottic laryngeal chondromalacia, stenosis of the left upper bronchus and hypotonia). …”
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DETECTION OF PORCINE CIRCOVIRUS TYPE 3 IN RUSSIAN PIG HOLDINGS by M. V. Biryuchenkova, A. M. Timina, A. V. Shcherbakov

“…Results of molecular and genetic tests of biomaterials collected from pigs in 51 holdings located in 28 regions of the Russian Federation are presented. …”
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