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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Fetal medicine and current practice of prenatal screening by Akshatha Prabhu

“…The fetal sample is used for various genetic tests, such as chromosome microarray analysis (CMA), targeted clinical exome sequencing (CES), or whole exome sequencing (WES) depending upon the abnormality noted or the suspected genetic condition. …”
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Sequential Therapy of Linezolid and Contezolid to Treat Hematogenous Lung Abscess Caused by Staphylococcus aureus in a Congenital Cerebral Hypoplasia Patient: A Case Report by Zhou S, Xin C, Liu W

“…Shuang Zhou,1 Chengqi Xin,2– 5 Wenjuan Liu1 1Department of Respiratory and Critical Care Medicine, The First Affiliated Hospital of Dalian Medical University, Dalian, Liaoning, People’s Republic of China; 2Stem Cell Clinical Research Center, The First Affiliated Hospital of Dalian Medical University, Dalian, Liaoning, People’s Republic of China; 3National Local Joint Engineering Laboratory, The First Affiliated Hospital of Dalian Medical University, Dalian, Liaoning, People’s Republic of China; 4National Genetic Test Center, The First Affiliated Hospital of Dalian Medical University, Dalian, Liaoning, People’s Republic of China; 5Liaoning Key Laboratory of Frontier Technology of Stem Cell and Precision Medicine, Dalian Innovation Institute of Stem Cell and Precision Medicine, Dalian, Liaoning, People’s Republic of ChinaCorrespondence: Wenjuan Liu; Chengqi Xin, Email liuwenjuan880424@126.com; chengqixin@126.comAbstract: Staphylococcus aureus is a common pathogen of hematogenous lung abscesses. …”
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Serum connexin 26 as a potential marker of non-syndromic hearing loss by Hend M. Moness, Noha M. Abdullah, Doaa El Amrousy, Reham Gamal, Hatem A. Mohamed, Mohammed A. Gomaa, Shaimaa Moustafa Hafez, Zamzam Hassan Mohamed

“…There is currently no approval for laboratory investigations to diagnose non-syndromic hearing loss (NSHL) except few studies that are based on expensive genetic tests. This study evaluates the value of connexin 26 as a screening test for NSHL. …”
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Prevalence of Fabry Disease among Patients with Parkinson’s Disease by Alexandra Lackova, Christian Beetz, Sebastian Oppermann, Peter Bauer, Petra Pavelekova, Tatiana Lorincova, Miriam Ostrozovicova, Kristina Kulcsarova, Jana Cobejova, Martin Cobej, Petra Levicka, Simona Liesenerova, Daniela Sendekova, Viktoria Sukovska, Zuzana Gdovinova, Vladimir Han, Mie Rizig, Henry Houlden, Matej Skorvanek

“…In 126 subsequently genetically tested patients, four heterozygous p.(Asp313Tyr) GLA variants (3.2%, MAF 0.016) were identified; all were females. …”
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<i>MTHFR</i> Gene Polymorphisms and Cancer Risk in Children and Adolescents: A Systematic Review and Meta-Analysis by Savvas Kolanis, Eleni P. Kotanidou, Vasiliki Rengina Tsinopoulou, Elisavet Georgiou, Emmanuel Hatzipantelis, Liana Fidani, Assimina Galli-Tsinopoulou

“…<b>Methods:</b> After a systematic search of all of the available data, original case–control studies involving children or adolescents with a confirmed diagnosis of any type of cancer and a molecular genetic test of <i>MTHFR</i> gene polymorphisms were included. …”
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