Evaluating the Effectiveness of Cyclin-Dependent Kinase 4/6 Inhibitors in Early- and Very Early-Onset Metastatic Breast Cancer: A Multicenter Study by Akif Doğan, Nurullah İlhan, Goncagül Akdağ, Sedat Yıldırım, Mustafa Seyyar, Zeynep Yüksel Yaşar, Hande Nur Erölmez, Heves Sürmeli, Buğra Öztosun, Özlem Nuray Sever, Hatice Odabaş, Mahmut Emre Yıldırım, Devrim Çabuk, Nedim Turan, Mahmut Gümüş

“…The findings underscore the urgent need for personalized treatment strategies, routine genetic testing, and dedicated clinical trials designed to address the specific needs of these high-risk subgroups. …”
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Bariatric Surgery as a Molecular Modulator: The Role of FSHR Polymorphisms in Enhancing eNOS Expression and Reproductive Hormone Dynamics in Women with Severe Obesity by Charalampos Voros, Despoina Mavrogianni, Kyriakos Bananis, Alexios Karakasis, Anthi-Maria Papahliou, Vasileios Topalis, Antonia Varthaliti, Raphail Mantzioros, Panagiota Kondili, Menelaos Darlas, Regina Sotiropoulou, Diamantis Athanasiou, Dimitris Mathiopoulos, Panagiotis Antsaklis, Dimitrios Loutradis, Georgios Daskalakis

“…These findings indicate the possibility of combining genetic testing and bariatric therapies to improve infertility treatment in obese women.…”
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Clinical and genetic characteristics of a total or partial congenital aniridia by N.V. Sukhanova, V.V. Kadyshev, T.A. Vasilieva, A.V. Marakhonov, L.A. Katargina, S.I. Kutsev, R.A. Zinchenko

“…All patients underwent a comprehensive eye exam, molecular and genetic testing, as well as specialist consultation. To find a genetic cause of CA, the analysis of minor mutations in the PAX6 gene was performed by Sanger sequencing in order to determine the nucleotide sequence of 13 exons and adjacent intronic regions. …”
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De Novo or inherited: gonosomal mosaicism in hereditary angioedema due to C1 inhibitor deficiency by Laura Batlle-Masó, Laura Batlle-Masó, Laura Batlle-Masó, Janire Perurena-Prieto, Janire Perurena-Prieto, Janire Perurena-Prieto, Laura Viñas-Giménez, Laura Viñas-Giménez, Laura Viñas-Giménez, Aina Aguiló-Cucurull, Aina Aguiló-Cucurull, Paula Fernández-Álvarez, Johana Gil-Serrano, Johana Gil-Serrano, Johana Gil-Serrano, Mar Guilarte, Mar Guilarte, Mar Guilarte, Roger Colobran, Roger Colobran, Roger Colobran, Roger Colobran

“…Our results underscore the importance of parental genetic testing in all patients, regardless of whether the parents are affected, and highlights the implications of gonosomal mosaicism for genetic counseling.…”
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The dilemma of X-linked agammaglobulinemia carriers by Federica Pulvirenti, MD, PhD, Cinzia Milito, MD, PhD, Francesco Cinetto, MD, PhD, Giulia Garzi, MD, Germano Sardella, MD, Giuseppe Spadaro, MD, Francesca Lippi, MD, Valentina Guarnieri, MD, Bianca Laura Cinicola, MD, Maria Carrabba, MD, PhD, Daniele Guadagnolo, MD, Giovanna Fabio, MD, Baldassarre Martire, MD, Caterina Cancrini, MD, PhD, Giulia Lanzoni, MD, Andrea Finocchi, MD, PhD, Gigliola Di Matteo, MD, PhD, Eva Pompilii, MD, Simona Ferrari, BD, PhD, Isabella Quinti, MD, PhD

“…The main reasons for the sisters to decide not to undergo genetic testing were their young age and the willingness to carry on with the pregnancy regardless of the outcome of the genetic test, followed by the willingness to postpone the decision at the time of pregnancy and the decision to not have children. …”
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Analyzing the efficacy of a novel method for detecting achromatopsia by N.V. Sukhanova, S.I. Rychkova, V.G. Likhvantseva, R.I. Sandimirov, V.V. Kadyshev, R.A. Zinchenko

“…</p> <p> <b>Patients and Methods:</b> twenty patients with congenital achromatopsia established by genetic testing were enrolled. Sixteen (80%) patients were diagnosed with mutations in the CNGB3 gene and 4 (20%) patients were diagnosed with mutations in the CNGA3 gene. …”
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Gastrointestinal complications of hepatic glycogen storage disease: a national survey questionnaire study in China by Xiaoyan Zhang, Zexiong Su, Jiaxing Wu, Hanshi Zeng, Xun Jiang, Ying Wang, Huiqing Shen, Xiaoli Xie, Yuan Xiao, Qing Tang, Xiaoping Luo, Xuemei Zhong, Huan Chen, Jiaoli Lan, Yongxin Chen, Xiaolu Zeng, Huiqiong Zhang, Zhiling Li, Yuxin Zhang, Min Yang

“…Methods A national cohort survey questionnaire was distributed to patients diagnosed with GSD type Ia, Ib, III, VI, and IX through genetic testing or their parents in mainland China in May 2022. …”
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Genomic deletions on 16p11.2 associated with severe obesity in Brazil by Izadora Sthephanie da Silva Assis, Izadora Sthephanie da Silva Assis, Kaio Cezar Rodrigues Salum, Kaio Cezar Rodrigues Salum, Kaio Cezar Rodrigues Salum, Rafaela de Freitas Martins Felício, Lohanna Palhinha, Gabriella de Medeiros Abreu, Gabriella de Medeiros Abreu, Tamara Silva, Fernanda Cristina Carvalho Mattos, Eliane Lopes Rosado, Verônica Marques Zembrzuski, Mario Campos Junior, Clarissa Menezes Maya-Monteiro, Pedro Hernán Cabello, João Regis Ivar Carneiro, Patrícia Torres Bozza, Ana Carolina Proença da Fonseca, Ana Carolina Proença da Fonseca, Ana Carolina Proença da Fonseca, Ana Carolina Proença da Fonseca

“…These results support the clinical utility of genetic testing to identify patients with the genetic form of obesity who may benefit from specific medical treatment, family genetic counseling, and targeted therapeutic intervention.…”
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The implementation of genome sequencing in rare genetic diseases diagnosis: a pilot study from the Hong Kong genome projectResearch in context by Wai Kei Jacky Lam, Chak Sing Lau, Ho Ming Luk, Lisa Wing Chi Au, Gary C.P. Chan, Will Yap Hang Chan, Shirley Sze Wing Cheng, Timothy Hua Tse Cheng, Li Li Cheung, Yiu Fai Cheung, Josephine Shuk Ching Chong, Annie Tsz Wai Chu, Claudia Ching Yan Chung, Kin Lai Chung, Cheuk Wing Fung, Eva Lai Wah Fung, Yuan Gao, Stephanie Ho, Shirley Pik Ying Hue, Chi-Ho Lee, Tsz Leung Lee, Philip Hei Li, Hei Man Lo, Ivan Fai Man Lo, Herbert Ho Fung Loong, Becky Mingyao Ma, Wei Ma, Shirley Yin Yu Pang, Wai-Kay Seto, Steven Wai Kwan Siu, Ho So, Yuk Him Tam, Wenshu Tang, Rosanna Ming Sum Wong, Desmond Yat Hin Yap, Maggie Lo Yee Yau, Brian Hon Yin Chung, Su-Vui Lo

“…The diagnostic yield was significantly higher in probands without prior genetic testing (37%; n = 185) compared to those previously tested, including exome and genome sequencing (23%; n = 335) (p = 0.001). …”
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Global Practice Patterns and Variations in the Medical and Surgical Management of Non- Obstructive Azoospermia: Results of a World-Wide Survey, Guidelines and Expert Recommendation... by Amarnath Rambhatla, Rupin Shah, Imad Ziouziou, Priyank Kothari, Gianmaria Salvio, Murat Gul, Taha Hamoda, Parviz Kavoussi, Widi Atmoko, Tuncay Toprak, Ponco Birowo, Edmund Ko, Mohamed Arafa, Ramy Abou Ghayda, Vilvapathy Senguttuvan Karthikeyan, Giorgio Ivan Russo, Germar-Michael Pinggera, Eric Chung, Ahmed M. Harraz, Marlon Martinez, Nguyen Ho Vinh Phuoc, Nicholas Tadros, Ramadan Saleh, Missy Savira, Giovanni M. Colpi, Wael Zohdy, Edoardo Pescatori, Hyun Jun Park, Shinichiro Fukuhara, Akira Tsujimura, Cesar Rojas-Cruz, Angelo Marino, Siu King Mak, Edouard Amar, Wael Ibrahim, Puneet Sindhwani, Naif Alhathal, Gian Maria Busetto, Manaf Al Hashimi, Ahmed El-Sakka, Asci Ramazan, Fotios Dimitriadis, Massimiliano Timpano, Davor Jezek, Baris Altay, Daniel Suslik Zylbersztejn, Michael YC Wong, Du Geon Moon, Christine Wyns, Safar Gamidov, Hamed Akhavizadegan, Alessandro Franceschelli, Kaan Aydos, Nguyen Quang, Shedeed Ashour, Adel Al Dayel, Mohammed S. Al-Marhoon, Sava Micic, Saleh Binsaleh, Alayman Hussein, Haitham Elbardisi, Taymour Mostafa, Jonathan Ramsay, Athanasios Zachariou, Islam Fathy Soliman Abdelrahman, Osvaldo Rajmil, Arif Kalkanli, Juan Manuel Corral Molina, Kadir Bocu, Gede Wirya Kusuma Duarsa, Gökhan Çeker, Ege Can Serefoglu, Fahmi Bahar, Nazim Gherabi, Shinnosuke Kuroda, Abderrazak Bouzouita, Ahmet Gudeloglu, Erman Ceyhan, Mohamed Saeed Mohamed Hasan, Muhammad Ujudud Musa, Ahmad Motawi, Chak-Lam Cho, Hisanori Taniguchi, Christopher Chee Kong Ho, Jesus Fernando Solorzano Vazquez, Shingai Mutambirwa, Nur Dokuzeylul Gungor, Marion Bendayan, Carlo Giulioni, Aykut Baser, Marco Falcone, Luca Boeri, Gideon Blecher, Alireza Kheradmand, Tamilselvi Sethupathy, Ricky Adriansjah, Nima Narimani, Charalampos Konstantinidis, Tuan Thanh Nguyen, Andrian Japari, Parisa Dolati, Keerti Singh, Cevahir Ozer, Selcuk Sarikaya, Nadia Sheibak, Ndagijimana Jean Bosco, Mehmet Serkan Özkent, Sang Thanh Le, Ioannis Sokolakis, Darren Katz, Ryan Smith, Manh Nguyen Truong, Tan V. Le, Zhongwei Huang, Muslim Dogan Deger, Umut Arslan, Gokhan Calik, Giorgio Franco, Ayman Rashed, Oguzhan Kahraman, Sotiris Andreadakis, Rosadi Putra, Giancarlo Balercia, Kareim Khalafalla, Rossella Cannarella, Anh Đặng Tuấn, Amr El Meliegy, Birute Zilaitiene, Marlene Lizbeth Zamora Ramirez, Filippo Giacone, Aldo E. Calogero, Konstantinos Makarounis, Sunil Jindal, Bac Nguyen Hoai, Ravi Banthia, Marcelo Rodriguez Peña, Dharani Moorthy, Aram Adamyan, Deniz Kulaksiz, Hussein Kandil, Nikolaos Sofikitis, Ciro Salzano, Andreas Jungwirth, Surendra Reddy Banka, Tiago Cesar Mierzwa, Tahsin Turunç, Divyanu Jain, Armen Avoyan, Pietro Salacone, Ateş Kadıoğlu, Chirag Gupta, Haocheng Lin, Iman Shamohammadi, Nasser Mogharabian, Trenton Barrett, Yavuz Onur Danacıoğlu, Andrea Crafa, Salima Daoud, Vineet Malhotra, Abdulmalik Almardawi, Osama Mohamed Selim, Mohamad Moussa, Saeid Haghdani, Mesut Berkan Duran, Yannic Kunz, Mirko Preto, Elena Eugeni, Thang Nguyen, Ahmed Rashad Elshahid, Seso Sulijaya Suyono, Dyandra Parikesit, Essam Nada, Eduardo Gutiérrez Orozco, Florence Boitrelle, Nguyen Thi Minh Trang, Mounir Jamali, Raju Nair, Mikhail Ruzaev, Franco Gadda, Charalampos Thomas, Raphael Henrique Ferreira, Umit Gul, Serena Maruccia, Ajay Kanbur, Ella Kinzikeeva, Saad Mohammed Abumelha, Raghavender Kosgi, Fatih Gokalp, Mohammad Ayodhia Soebadi, Gustavo Marquesine Paul, Hesamoddin Sajadi, Deepak Gupte, Rafael F. Ambar, Emrullah Sogutdelen, Karun Singla, Ari Basukarno, Shannon Hee Kyung Kim, Mohammad Ali Sadighi Gilani, Koichi Nagao, Sakti Ronggowardhana Brodjonegoro, Andri Rezano, Mohamed Elkhouly, Rossella Mazzilli, Hasan M. A. Farsi, Hung Nguyen Ba, Hamed Alali, Dimitrios Kafetzis, Tran Quang Tien Long, Sami Alsaid, Hoang Bao Ngoc Cuong, Knigavko Oleksandr, Akhmad Mustafa, Herik Acosta, Hrishikesh Pai, Bahadır Şahin, Eko Arianto, Colin Teo, Sanjay Prakash Jayaprakash, Rinaldo Indra Rachman, Mustafa Gurkan Yenice, Omar Sefrioui, Shivam Priyadarshi, Marko Tanic, Noor Kareem Alfatlaw, Fikri Rizaldi, Ranjit B. Vishwakarma, George Kanakis, Dinesh Thomas Cherian, Joe Lee, Raisa Galstyan, Hakan Keskin, Janan Wurzacher, Doddy Hami Seno, Bambang S Noegroho, Ria Margiana, Qaisar Javed, Fabrizio Castiglioni, Raman Tanwar, Ana Puigvert, Coşkun Kaya, Medianto Purnomo, Chadi Yazbeck, Azwar Amir, Edson Borges, Marina Bellavia, Isaac Ardianson Deswanto, Vinod KV, Giovanni Liguori, Dang Hoang Minh, Kashif Siddiqi, Fulvio Colombo, Armand Zini, Niket Patel, Selahittin Çayan, Ula Al-kawaz, Maged Ragab, Guadalupe Hernández Hebrard, Jean de la Rosette, Ozan Efesoy, Ivan Hoffmann, Thiago Afonso Teixeira, Barış Saylam, Daniela Delgadillo, Ashok Agarwal

“…Interestingly, 46.0% reported successful SSR in <10% of men with Klinefelter syndrome and 41.3% routinely recommended preimplantation genetic testing. Varicocele repair prior to SSR is recommended by 57.7%. …”

Investigating the Clinical Characteristics and PITX3Mutations of a Large Chinese Family with Anterior Segment Mesenchymal Dysgenesis and Congenital Posterior Polar Cataract by Hui Dang, Min Peng, Weiyue Gu, Gang Ding, Yuqin Sun, Zhongkai Hao, Ning Wei, Xu Wang, Chenming Zhang, Aijun Deng

“…All patients who received the genetic test had the heterozygous frameshift mutation c.640_656dup (p.G220Pfs∗95) on exon 4 of the PITX3 gene. …”
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A Case Report of Thoracic Ectopia Cordis in a Hospital in Zanjan, Iran by Mehdi Hosseini, Hassan Zamani, Shadi Moghimi, Aref Nekoufar

“…Moreover, the noninvasive prenatal testing (NIPT) genetic test performed in the 10th week of pregnancy was evaluated. …”
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Development and implementation of a digiphysical screening model with nationwide reach to diagnose familial hypercholesterolemia by Karin Littmann, Gustav Kindborg, Matthias Lidin, Linda Mellbin, Daniel Eriksson Hogling, Jonas Brinck

“…Selective screening was performed in 2867 patients with coronary artery disease, 355 (12.4%) were identified with increased risk for FH and underwent a genetic test. Of these, 153 (3.8%) had a genetic test result and 52 (1.8%) were diagnosed with FH. …”
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The Usefulness of Genotyping of Celiac Disease-Specific HLA among Children with Type 1 Diabetes in Various Clinical Situations by Grazyna Deja, Dominika Sikora, Aleksandra Pyziak-Skupien, Karolina Klenczar, Rafał Deja, Przemysława Jarosz-Chobot

“…Results. The results of genetic tests confirmed the presence of DQ2/DQ8 in 94% of children with diabetes (group I) and in 100% of children with diabetes and CD (groups II and III, respectively). …”
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Comparative genetic analysis of blood and semen samples in sperm donors from Hunan, China by Chuan Huang, Li-Ming Chu, Bo Liang, Hui-Lan Wu, Bai-Shun Li, Shuai Ren, Mei-Ling Hou, Hong-Chuan Nie, Ling-Yin Kong, Li-Qing Fan, Juan Du, Wen-Bing Zhu

“…Objectives At present, most genetic tests or carrier screening are performed with blood samples, and the known carrier rate of disease-causing variants is also derived from blood. …”
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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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