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671 articles
October 20267
A Case of Primary Intramedullary Infantile Fibrosarcoma With an RBPMS::NTRK3 Fusion and Response to Larotrectinib.
A 4-week-old infant presented with rapidly progressive cervical myelopathy due to primary intramedullary infantile fibrosarcoma.
A Novel FAM111A Frameshift Variant Associated With Osteoclast Necroptosis and KCS2-like Syndrome.
Kenny-Caffey syndrome type II (KCS2) is a rare genetic disorder characterized by skeletal abnormalities, impaired growth, and developmental delay.
Calcitonin-negative 'MTC-like' thyroid paraganglioma revealing an SDHD-related hereditary paraganglioma syndrome: functional confirmation of a non-canonical splice-site variant.
A 36-year-old woman presented with a 20-mm thyroid nodule classified as EU-TIRADS 4 and Bethesda III, with normal serum calcitonin levels.
DDX3Y loss-of-function variant in AZFa-like non-obstructive azoospermia highlights gaps in current Y-chromosome microdeletion testing.
A man with idiopathic non-obstructive azoospermia presented with an AZFa-like phenotype, characterized by elevated FSH and a normal karyotype.
Chatbot Intervention and Cancer Risk Knowledge in Adolescents and Young Adults With Cancer Predisposition: A Randomized Clinical Trial.
This multicentre randomized clinical trial evaluated whether a tailored electronic chatbot improved cancer-risk understanding among English-speaking adolescents and young adults aged 12 to 24 years with one of nine…
Retrospective RNA Sequencing Reclassifies a Historical t(5;12) Eosinophilic Neoplasm From Presumed PDGFRB Rearrangement to ETV6::ACSL6.
A woman with a chronic eosinophilic myeloid neoplasm had a t(5;12) that raised suspicion of PDGFRB involvement, but contemporary testing did not identify a rearrangement and empiric imatinib produced no meaningful…
Exceptional and Durable Response to Selpercatinib in a Patient with Apparently RET -Negative, HRAS -, and NF1 -Mutated Metastatic Medullary Thyroid Carcinoma.
A 50-year-old woman presented with rapidly progressive medullary thyroid carcinoma (Ki-67 30%) and extensive liver and bone metastases.
September 202617
Sex-Discordant Monochorionic Dizygotic Twins After Double Blastocyst Transfer: Blood Chimerism Demonstrated by Multimodal Genetic Testing.
A 38-year-old woman conceived through intracytoplasmic sperm injection and double blastocyst transfer, leading to monochorionic diamniotic twins. At 21 weeks, discordant external genitalia were noted.
Genetic Analysis and Reproductive Intervention in a Duchenne Muscular Dystrophy Family With Cryptic Complex Chromosomal Rearrangement Identified by Structural Variation Sequencing.
Duchenne/Becker muscular dystrophy (DMD/BMD) is caused by variants in the X-linked DMD gene-most commonly deletions, duplications, or point mutations, and only rarely by complex chromosomal rearrangements (CCRs).
When two rare diseases meet: atypical hemolytic uremic syndrome and alkaptonuria in two siblings.
Two brothers from a consanguineous family presented with recurrent episodes of atypical hemolytic uremic syndrome (aHUS) characterized by microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury.
A Novel Pathogenic Variant in RTEL1 Causes Dyskeratosis Congenita/Hoyeraal-Hreidarsson Syndrome: A Report of Two Cases.
Two patients presented with severe immunodeficiency and very early-onset inflammatory bowel disease. Genetic testing identified the same novel homozygous RTEL1 variant, c.1670T>C (p.L557P).
A Heterozygous Variant in the GABBR2 Gene in a Girl With Clinical Classic Rett Syndrome.
A girl diagnosed with classic Rett syndrome exhibited developmental stagnation, loss of purposeful hand use, stereotypic movements, autonomic dysfunction, and behavioral issues.
FOXG1 syndrome: genetic background revealed by trio WES in case of a critically ill neonate.
A male neonate presented with hypotonia and abnormal respiratory effort at birth. Due to the serious and non-specific clinical signs, trio whole-exome sequencing (WES) was performed, revealing a de novo heterozygous…
A rare case of hereditary spastic paraplegia with homozygous mutation in the ZFYVE26 gene.
A 19-year-old female with consanguineous parents presented with gait disturbances, lower limb spasticity, and dysarthria. Neurological examination revealed motor and mental retardation, bilateral lower limb spasticity…
Severe neurodevelopmental phenotype with multisystem involvement in VPS16-related mucopolysaccharidosis-like syndrome.
A patient with biallelic VPS16 variants presented with profound developmental delay, early-onset epilepsy, and spasticity, alongside multisystem issues such as recurrent infections and neutropenia.
Longest surviving patient with a homozygous splice-altering EGFR pathogenic variant presenting with skin autoinflammation and a Bartter-like salt-losing tubulopathy.
An adolescent patient with a Bartter-like phenotype presented with progressive nephrocalcinosis, hypercalciuria, and skin autoinflammation.
Effect of prenatal genetic counseling on anxiety and test attitudes in pregnant women: a randomized trial.
This randomized controlled trial assessed the impact of prenatal genetic counseling on anxiety and attitudes towards prenatal diagnostic tests in 66 pregnant women.
Circulating tumour DNA and its clinical relevance in predicting progression-free survival and overall survival in patients with advanced breast cancer: a systematic review and meta-analysis.
This systematic review and meta-analysis evaluated the prognostic value of circulating tumour DNA (ctDNA) in predicting progression-free survival (PFS) and overall survival (OS) in patients with advanced breast cancer…
Type A Insulin Resistance Syndrome Due to a Pathogenic Variant in the INSR Gene.
A woman in her 40s, initially diagnosed with type 1 diabetes, presented with a 30-year history of fluctuating insulin sensitivity and later developed insulin resistance, despite being non-obese.
Efficacy and safety of garetosmab, an activin A-blocking antibody, in fibrodysplasia ossificans progressiva (OPTIMA): a randomised, double-blind, placebo-controlled, phase 3 trial.
OPTIMA was a multicentre, randomised, double-blind, placebo-controlled phase 3 trial assessing monthly intravenous garetosmab in adults with fibrodysplasia ossificans progressiva.
Phenotypic spectrum of 19p13.3 microdeletion: a fatal infant case with severe cardiomegaly and gastrointestinal manifestations.
An 8-month-old female infant presented with multisystemic complications, including congenital heart defects, limb anomalies, macrocephaly, and recurrent pulmonary infections.
Beyond β-amyloid: transthyretin cerebral amyloid angiopathy.
A 44-year-old man presented with recurrent upper-limb and perioral sensory symptoms, later identified as transient focal neurological episodes.
Biomarker-Guided Diagnosis of Riboflavin Transporter Deficiency Presenting as Seronegative Myasthenia Gravis: A Short Report from a Consanguineous Family.
A 3.5-year-old girl born to consanguineous parents developed bilateral ptosis, followed by dysphagia, dysphonia, facial diplegia, stridor, and respiratory compromise.
The Psychosocial Impact of Receiving Whole Genome and Whole Exome Sequencing Results in Adults: A Systematic Review.
This systematic review assessed the psychosocial impact of whole genome sequencing (WGS) and whole exome sequencing (WES) results in adults, analyzing 45 studies.
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