Caffey Disease: Genetically Proven Case Report of 2-month-old Indian Infant by Vagta Ram, Kunal Kumar, Krishnan Rajeshwari, Deepak Kumar

“…This case report provides a detailed description of a 2-month-old male infant presenting with deformities of the hands and feet, along with swelling and restricted movement of the limbs. Genetic testing confirmed a mutation in the COLA1A gene, confirming the diagnosis of Caffey disease. …”
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Dilated cardiomyopathy and myocarditis: a clinical case by O.V. Onyshchenko, D.V. Riabenko, O.A. Yepanchintseva

“…This clinical case emphasizes the importance of a complete diagnostic examination with the use of genetic testing in certain cases. …”
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Genetic Landscape and Clinical Manifestations of Multiple Endocrine Neoplasia Type 1 in a Korean Cohort: A Multicenter Retrospective Analysis by Boram Kim, Seung Hun Lee, Chang Ho Ahn, Han Na Jang, Sung Im Cho, Jee-Soo Lee, Yu-Mi Lee, Su-Jin Kim, Tae-Yon Sung, Kyu Eun Lee, Woochang Lee, Jung-Min Koh, Moon-Woo Seong, Jung Hee Kim

“…The prevalence of gastroenteropancreatic neuroendocrine tumor and pituitary neuroendocrine tumor (PitNET) was 77.8% (n=91) and 56.4% (n=66), respectively. Genetic testing revealed 61 distinct MEN1 variants in 101 patients, with 18 being novel. …”
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Developing multifactorial dementia prediction models using clinical variables from cohorts in the US and Australia by Caitlin A. Finney, David A. Brown, Artur Shvetcov

“…Future research should examine the use of routine APOE genetic testing for dementia diagnostics. It should also focus on clearly unifying data across clinical cohorts.…”
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Terminal Complement Pathway Deficiency in an Adult Patient with Meningococcal Sepsis by F. Staels, W. Meersseman, P. Stordeur, K. Willekens, S. Van Loo, A. Corveleyn, I. Meyts, G. Meyfroidt, R. Schrijvers

“…Screening for complement deficiencies after IMD, followed by genetic testing, can be lifesaving and allows for genetic counselling. …”
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Nephronophthisis: A Genetically Diverse Ciliopathy by Roslyn J. Simms, Ann Marie Hynes, Lorraine Eley, John A. Sayer

“…Increasingly, molecular genetic testing is being utilised to diagnose NPHP and avoid the need for a renal biopsy. …”
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Acquired Vulvar Lymphangioma Following CO2 Laser Treatment for Sebaceous Gland Nevus in a 10-Year-Old Girl: A Case Report by Luo Y, Chen W, Xu D, Chen S, Ma S

“…Histopathological examination and genetic testing confirmed Our diagnosis of acquired vulvar lymphangioma with lymphedema.Keywords: acquired vulvar lymphangiectasia, lymphangioma, lymphedema…”
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Invasive Carcinoma Ex-Pleomorphic Adenoma of the Lacrimal Gland with a Cystadenocarcinoma Component: A Case Report and Review of the Literature by Vamsee K. Neerukonda, Bryant Carruth, Maria Del Valle Estopinal

“…This case illustrates the importance of the histopathologic assessment including immunohistochemistry and genetic testing to narrow a differential diagnosis and potentially aid or guide therapy in the future. …”
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MPN/MDS OVERLAP SYNDROME ANTICIPATED BY A SEVERE BLEEDING DIATHESIS: HYPOTHESIS OF A PRE-EXISTING PLATELET DISORDER by Paola Ranalli, Stefano Baldoni, Daniela Bruno, Mauro Di Ianni

“…This case report underlines the importance of genetic testing in case of patient with documented platelet function disorder, including both mutations associated with inherited platelet disorders and germline mutations more strictly predisposing to Myeloid Neoplasms. …”
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MPO Expression of Background Neutrophils in MPO Negative Acute Promyelocytic Leukemia, An Easy Clue to Corroborate a Challenging Diagnosis: A Case Report and Review of Literature by Kritika Krishnamurthy, Jui Choudhuri, K. H. Ramesh, Yanhua Wang

“…The identification of MPO deficiency based on genetic testing would involve at the least a MPO gene scanning with NGS, followed by microarray to identify somatic uniparental disomy in heterozygotes. …”
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Diabetes Mellitus Secondary to Acute Pancreatitis in a Child with Wolf-Hirschhorn Syndrome by Asma Deeb

“…She had negative autoantibodies and no signs of insulin resistance and her monogenic diabetes genetic testing was negative. Microarray study using WHS probe confirmed deletion of 4p chromosome. …”
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Brain magnetic resonance imaging findings in Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): A case-based review by Maria Veatriki Christodoulou, MD, MSc, Nikoletta Anagnostou, MD, MSc, Anastasia K. Zikou, MD, PhD

“…The presence of leukoencephalopathy on brain MRI in patients with cachexia and neurological manifestations, should raise the suspicion for MNGIE and trigger further biochemical and genetic testing.…”
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Genetic investigation of patients with autosomal recessive ataxia and identification of two novel variants in the SQSTM1 and SYNE1 genes by Diana Mokhtari, Mohammad Jahanpanah, Nasim Jabbari, Hamed Azari, Sana Davarnia, Haleh Mokaber, Sara Arish, Rasol Molatefi, Vahid Abbasi, Behzad Davarnia

“…Therefore, comprehensive genetic testing is useful for identifying the genes responsible for ARCAs. …”
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Leiden mutation (rs6025) in a severe COVID-19 pneumonia patient with Down syndrome: a clinical case by V.I. Pokhylko, Y.I. Cherniavska, L.Y. Fishchuk, Z.I. Rossokha, O.G. Ievseienkova, O.M. Dubitska, O.F. Popova, M.М. Fastovets, O.О. Kaliuzhka, N.G. Gorovenko

“…Numerous theoretical overviews and research articles indicate the need for genetic testing in patients with COVID-19 to determine the genetic profile of proteins involved in thrombophilia. …”
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Genetic investigations of autosomal recessive inherited ichthyosis impressed by fetal ultrasound: Exome sequencing and haplotype linkage analysis by Ting-Yu Chang, Zhu Wei Lim, Yi-Tzu Chu, Wan-Ju Wu, Mei-Hui Lee, Shun-Ping Chang, Dong-Jay Lee, Wen-Hsiang Lin, Ming Ho, Jin-Chung Shih, Gwo-Chin Ma, Ming Chen

“…Here, we reported two fetuses with Harlequin ichthyosis (HI), a severe subtype of autosomal recessive congenital ichthyosis (ARCI), who were diagnosed prenatally by images and genetic investigations. Preimplantation genetic testing (PGT) was also performed in one case and the family to prevent the transmission of this condition. …”
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A Review of Age-related Macular Degeneration and Current Concepts in Management by Sahebaan Sethi

“…It also discusses the importance of early detection and monitoring, highlighting the role of innovative imaging technologies and genetic testing in personalized treatment approaches. …”
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Asleep surgery for deep brain stimulation of the globus pallidus internus in pediatric dystonia associated with KMT2B mutation by Chingiz Nurimanov, Karashash Menlibayeva, Seitzhan Aidarov, Iroda Mammadinova, Nurtay Nurakay

“…Accurate diagnosis through genetic testing and precise electrode placement may significantly improve motor symptoms and quality of life of patients with gene-associated dystonia. …”
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Novel Mutations in the MKKS, BBS7, and ALMS1 Genes in Iranian Children with Clinically Suspected Bardet–Biedl Syndrome by Roghayeh Dehghan, Mahdiyeh Behnam, Mansoor Salehi, Roya Kelishadi

“…In conclusion, our results not only expand the spectrum of mutations in BBS and ALMS1 genes but also accentuate the importance of genetic testing for differentiating BBS from Alström syndrome.…”
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Hereditary colorectal cancer: genetics and screening diagnostics by O. I. Kit, D. I. Vodolazhsky, Yu. A. Gevorkyan, N. V. Soldatkina, F. N. Grechkin, M. A. Kozhushko, I. Yu. Yefimova

“…To present the data on main forms of hereditary colorectal cancer (CRC) and to discuss issues of its diagnostics, genetic testing and patient management. Summary. CRC is one of the most widespread oncologic diseases and takes the leading positions for morbidity and mortality in the pattern of neoplastic diseases in Russia. …”
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Novel SMAD3 Mutation in a Patient with Hypoplastic Left Heart Syndrome with Significant Aortic Aneurysm by Kristi K. Fitzgerald, Abdul Majeed Bhat, Katrina Conard, James Hyland, Christian Pizarro

“…This case highlights the importance of genetic testing for known causes of aneurysm in patients with congenital heart disease who develop aneurysmal disease as it may significantly impact the management of those patients and their family members.…”
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