Risk effects of environmental factors on human brucellosis in Aksu Prefecture, Xinjiang, China, 2014–2023 by Di Wu, Xinxiu Shen, Quan Zhou, Jing Zhou, Ruonan Fu, Chang Wang, Yuhua Ma, Chenchen Wang

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Genetic Analyses on Transgender Individuals: Impact on Physician Attitudes and Surgical Decision‐Making by Duygu Onur Cura, Ayfer Ülgenalp, Tufan Çankaya

“…The most appropriate approach for genetic testing would be to include the TGD community in decision‐making processes and to develop guidelines for the interpretation of genetic data.…”
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Inborn Errors of Immunity Presenting with Early-Onset Severe Atopy by Nipat Chuleerarux, Nadia Makkoukdji, Travis Satnarine, Jessica Elise Kuhn, Tanawin Nopsopon, Peerada Valyasevi, Fernanda Bellodi Schmidt, Gary Kleiner, Melissa Gans

“…This review aims to raise awareness of this association and emphasize the need for early diagnosis and genetic testing in patients with atypical or treatment-resistant allergic diseases, allowing for more timely diagnosis of underlying immunodeficiencies and appropriate treatments.…”
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Central Serous Chorioretinopathy Associated with Corticosteroid Use in a Patient with Leber Hereditary Optic Neuropathy: A Case Report by Lepsa Zoric, Aleksandra Petrovic, Vladimir Milutinovic

“…After cessation of therapy, there was a rapid resolution of choroidopathy, but no improvement in visual acuity, prompting genetic testing. Subsequent laboratory results revealed a positive test for the LHON mutation m.3460 G>A (MT-ND1). …”
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Identification of a novel SPTB gene splicing mutation in hereditary spherocytosis: a case report and diagnostic insights by Xiaobing Li, Xiaobing Li, Xiaobing Li, Xiaobing Li, Xiaobing Li, Tingqiang Zhang, Tingqiang Zhang, Tingqiang Zhang, Tingqiang Zhang, Xuemei Li, Li Wang, Li Wang, Li Wang, Li Wang, Qian Li, Qian Li, Qian Li, Qian Li, Qianqian Liu, Qianqian Liu, Qianqian Liu, Qianqian Liu, Chengyin He, Li Zhang, Li Zhang, Li Zhang, Li Zhang, Yongsheng Liu, Yongsheng Liu, Yongsheng Liu, Yongsheng Liu, Junling Tang, Junling Tang, Junling Tang, Junling Tang

“…Clinical findings, combined with genetic analysis, confirmed the diagnosis of HS and underscored the importance of comprehensive molecular testing for accurate diagnosis, especially in patients with a strong family history.ConclusionThis case emphasizes the utility of genetic testing in diagnosing hereditary spherocytosis, particularly for novel gene mutations. …”
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CLOVES Syndrome: A Review of Clinical, Genetic, and Therapeutic Aspects by Julianna Podolec, Silvia Ciraolo, Joanna Wojda, Adam Sobiński, Zuzanna Kościuszko, Katarzyna Kurza, Agnieszka Kulczycka-Rowicka, Matylda Czerwonka, Katarzyna Lesiczka-Fedoryj, Anna Walczak

“…Diagnosis involves genetic testing and imaging, and sirolimus shows potential in managing symptoms. …”
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Survival and risk factors for metastatic colorectal cancer patients with a history of prior malignancy by Yiwen Qiu, Nida Cao, Dan Meng, Jian Yuan, Yingjie Zhu

“…Therefore, we advocate for active standardized treatment for these patients and propose expanding the range of prior malignancies included in clinical trials based on publication timelines, primary tumour locations, and genetic testing results. The objective is to facilitate timely and proactive treatment for patients following the disclosure of results, thereby instilling confidence in the management of mCRC.…”
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Giant Protruding Nodular Fasciitis of the Anterior Chest Wall Clinically Mimicking a Soft Tissue Sarcoma by Hideyuki Kinoshita, Tsukasa Yonemoto, Hiroto Kamoda, Yoko Hagiwara, Toshinori Tsukanishi, Sumihisa Orita, Kazuhide Inage, Naoya Hirosawa, Seiji Ohtori, Takeshi Ishii

“…NF was diagnosed after pathological evaluation, including immunohistochemical analysis, molecular genetic testing, and cytogenetic testing via fluorescence in situ hybridization analysis. …”
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Prenatal genetic detection in foetus with gallbladder size anomalies: cohort study and systematic review of the literature by Yimo Zeng, Rong Hu, Jian Lu, Yiming Qi, Dan Chen, Chaoxiang Yang, Jing Wu

“…The overall diagnostic yield of genetic tests was 10.57% (24/227). Aneuploidies were identified in seven foetuses. …”
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The Role of Serum Vitamin D Levels and Vitamin D Receptor (<i>VDR</i>) Gene Variants on Dental Caries by Ece Şengün Berber, Feyza Umay Koç, Ayça Aykut, Burcu Barutçuoğlu, Fahinur Ertuğrul, Merve Tosyalı, Mert Pekerbaş, Arzu Aykut Yetkiner

“…Intraoral examinations were performed to record dmft index values. Genetic testing was performed on 26 children to examine VDR gene variations. …”
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The Analysis of the Fetal Abdominal Wall and Gastrointestinal Tract Abnormalities in a Single Tertiary Center by Gokhan Bolluk, Suleyman Cemil Oglak, Merih Cetinkaya, Isil Turan Bakirci, Oyhan Demirali, Mehmet Cok, Handan Turhan Karakus, Yasin Onur, Emine Zeynep Yilmaz

“…The most common anterior abdominal wall malformations were omphalocele (n=29, 43.3%) and gastroschisis (6 cases, 9.0%), and the most common fetal gastrointestinal tract anomalies were duodenal atresia (n=10, 14.9%), dilated bowel (n=5, 7.4%), and intestinal atresia (n=4, 5.9%). While genetic testing was carried out in 18 cases (27%), chromosomal abnormality was found in 6 (9.0%) cases. …”
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Pre-gestational diabetes in a young woman with a pathogenic INSR missense mutation, p.(Met1180Lys) by Emma L Prehn, Mairéad Crowley, David Fennell, Brendan T Kinsley, Kevin Colclough, Maria M Byrne

“…This case highlights the importance of genetic testing to establish optimal diabetes treatment.…”
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A novel frameshift variant of GATA3 (p.Ala17ProfsTer178) responsible for HDR syndrome in a Japanese family by Yutaka Hasegawa, Toshie Segawa, Ai Chida, Eriko Yoshida, Hirofumi Kinno, Hiraku Chiba, Tomoyasu Oda, Yoshihiko Takahashi, Koji Nata, Yasushi Ishigaki

“…He had a family history of deafness and hypocalcemia. Genetic testing revealed a novel GATA3 gene variant at exon 2 (c.48delC), which induces a frameshift resulting in termination at codon 178, causing HDR syndrome. …”
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Sample Tracking Tool: A Comprehensive Approach Based on OpenArray Technology and R Scripting for Genomic Sample Monitoring by Giulia Trastulli, Giulia Calvino, Bruno Papasergi, Domenica Megalizzi, Cristina Peconi, Stefania Zampatti, Claudia Strafella, Carlo Caltagirone, Emiliano Giardina, Raffaella Cascella

“…This study aims at developing a protocol for tracking NGS-analyzed samples to prevent errors and mix-ups, ensuring proper quality control, accuracy, and reliability in genetic testing procedures. To this purpose, a protocol based on the genotyping of a panel of 60 single-nucleotide polymorphisms (SNPs) by OpenArray^TM technology was employed. …”
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The frequency of mutations in advanced thyroid cancer in Japan: a single-center study by Soji Toda, Hiroyuki Iwasaki, Yoichiro Okubo, Hiroyuki Hayashi, Mei Kadoya, Hiroyuki Takahashi, Tomoyuki Yokose, Yukihiko Hiroshima, Katsuhiko Masudo

“…We analyzed the outcomes of genetic testing to study the frequency of mutations in advanced thyroid cancer in Japan. …”
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Hypercalcemia and co-occurring TBX1 mutation in Glycogen Storage Disease Type Ib: case report by Zakaria Kasmi, Imane Ain El Hayat, Zahra Aadam, Abderrahmane Errami, Ibtihal Benhsaien, Jalila EL Bakkouri, Dalal Ben Sabbahia, Meryem Atrassi, Ahmed Aziz Bousfiha, Fatima Ailal

“…Laboratory analysis revealed hypoglycemia, elevated triglyceride levels, hypercalcemia, and neutropenia. Genetic testing confirmed a homozygous pathogenic variant in SLC37A4 and a heterozygous variant of uncertain significance in TBX1. …”
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The optimal treatment of invasive ductal and lobular carcinoma occurring at the same time needs to be established by Supriya Peshin, Rafi Iftekher, Rabia Iqbal, Shagun Singh, Moka Nagaishwarya

“…Multidisciplinary tumour board discussions emphasised the integration of genetic testing, including BRCA1/2 evaluation, and Oncotype DX genomic profiling to assess recurrence risk and guide adjuvant chemotherapy decisions. …”
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Gene mutation, clinical characteristics and pathology in resectable lung adenocarcinoma by Ji’an Zou, Wei Han, Yan Hu, Chao Zeng, Jina Li, Weixuan Lei, Jieming Cao, Quanming Fei, Mengqi Shao, Junqi Yi, Zeyu Cheng, Li Wang, Fang Wu, Wenliang Liu

“…Pathological examination and genetic testing have become a routine procedure for lung adenocarcinoma following radical resection. …”
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Genetic analysis of weak expression of ABO blood group antigens in neonates by YANG Jiali, ZHAO Ding, LI Wei, ZHANG Xiaopan, LI Zhihao, TIAN Dongdong

“…[Conclusion] For samples showing weakened antigens in ABO blood type identification of neonates, it is necessary to consider the possibility of ABO subtype in addition to age factors, and genetic testing can be used to prevent missed detection of ABO subtypes in neonates.…”
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Identification of a pathogenic founder variant in the WFS1 gene that causes Wolfram syndrome in the Druze population by Inbal Halabi, Inbal Halabi, Yardena Tenenbaum-Rakover, Yardena Tenenbaum-Rakover, Lena Sagi-Dain, Lena Sagi-Dain, Lena Sagi-Dain, Ilana Koren, Ilana Koren, Ilana Koren

“…The identified variant should be considered for genetic testing in individuals of Druze ancestry diagnosed with young-onset non-autoimmune diabetes. …”
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