Trending archive
Every article that has appeared in Trending stays here. Search by title, journal, author or PMID, and narrow by date.
671 articles
July 20267
Malnutrition and hypernatremic dehydration as the initial presentation of nephrogenic diabetes insipidus in an infant.
A 3-month-old infant presented after approximately 2 months of episodic fever, irritability, and poor growth. Examination showed severe malnutrition and dehydration, with hypernatremia.
A Second Report of a Missense Variant in AMMECR1 Causing Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and Nephrocalcinosis: Case Report and Literature Review.
A patient presented with midface hypoplasia, partial hearing impairment, nephrocalcinosis, and elliptocytosis, consistent with the multisystem disorder MFHIEN.
Germline pathogenic PTEN variant in a patient with a Kaposiform haemangioendothelioma.
A 28-year-old female presented with Kaposiform haemangioendothelioma (KHE) and was found to have a germline pathogenic PTEN variant. Initial detection in tumor tissue was confirmed in saliva.
Efficacy and safety of risdiplam in patients with type 1 spinal muscular atrophy: a 3-year open-label extension of the two-part, phase 2 FIREFISH trial.
This study reports the long-term safety and efficacy of risdiplam in children with type 1 spinal muscular atrophy over a 3-year open-label extension of the phase 2 FIREFISH trial.
Integrated genomic and biochemical diagnosis of a novel homozygous start-loss variant in AKR1D1 associated with neonatal cholestasis.
A 3-month-old male presented with severe neonatal cholestasis and elevated tyrosine levels detected in newborn screening. Despite transient normalization of tyrosine, recurrent hyper-tyrosinemia and progressive…
Crigler-Najjar Syndrome (Type 1) - A Case Report and Review of Literature.
A 7-year-old girl with Crigler–Najjar syndrome type I and kernicterus presented with fever and breakthrough seizures during an upper respiratory infection.
Prenatal Ultrasound and MRI in the Diagnosis of a Rare Fetal Dysplastic Megalencephaly Caused by AKT1 Gene Variant.
Prenatal ultrasound and MRI identified progressive fetal macrocephaly with abnormal cortical development, raising concern for dysplastic megalencephaly.
June 202617
Novel RHOXF1 mutation causes male infertility by inducing severe oligoasthenozoospermia.
Oligoasthenozoospermia (OAT) is a common cause of male infertility, with most OAT patients resulting from genetic defects. In this study, we recruited a severe OAT patient and his family for genetic analysis…
Biallelic Variant in HAPLN1 is Associated With Skeletal Dysplasia With or Without Congenital Heart Disease.
Four individuals from an extended consanguineous Kuwaiti family had a skeletal dysplasia characterized by shortened long bones in the upper and lower limbs and short, stubby metacarpals.
Prenatal Diagnosis of Recurrent Alkuraya-Kučinskas Syndrome: A Rare Case Report.
A 24-year-old woman in a consanguineous marriage, with a previous pregnancy terminated after diagnosis of Alkuraya-Kučinskas syndrome (AKS), had first-trimester ultrasound findings of cystic hygroma and limb…
Activation of cryptic donor splice site due to an exonic MYPN variant in congenital myopathy.
Biallelic pathogenic variants in the MYPN gene are a known cause of congenital myopathy, and exonic variants that activate cryptic splice sites have not been previously reported.
Phase 3 Trial of Oral Infigratinib in Children with Achondroplasia.
This phase 3, multicenter, double-blind, placebo-controlled trial evaluated the efficacy of oral infigratinib in children aged 3 to 17 with achondroplasia.
Exploring the genetic correlation between inflammatory bowel disease and psychiatric disorders: insights from genome-wide association studies.
This meta-analysis examined the genetic correlations between inflammatory bowel disease (IBD) and eight psychiatric disorders using data from 486,601 individuals.
MYH11-Related Hereditary Type 2 Visceral Myopathy in a Large Kindred: Diagnostic Odyssey With Milder Clinical Manifestations.
A 73-year-old woman had lifelong gastrointestinal and urinary dysfunction, including chronic constipation, neurogenic bladder, recurrent urinary tract infections, gastroparesis, and pelvic organ prolapse.
Positron Emission Tomography (PET) in Phenylketonuria: A Systematic Review of Brain Metabolism Beyond Phenylalanine.
This systematic review assessed PET studies of brain metabolism and neurotransmitter-related processes in people with phenylketonuria or hyperphenylalaninemia.
Biallelic TMEM126B Variants as a Novel Cause of Kidney Failure-Implications for Mitochondrial Genetic Testing in Nephrology: A Response Letter.
A 47-year-old male presented with childhood exercise intolerance, suspected hypertrophic cardiomyopathy, and progressive kidney failure. Initial genetic testing for inherited kidney diseases was inconclusive.
A descriptive case series of hepatotoxicity associated with CFTR modulators and possible relevance of pharmacogenetic polymorphisms in cystic fibrosis patients.
This case series reports six instances of hepatotoxicity in cystic fibrosis patients undergoing treatment with CFTR modulators. The RECAM score was utilized to assess the severity of liver damage.
Multi-ancestry genome-wide association meta-analysis of hepatocellular carcinoma identifies 15 risk loci including MAP3K9, DHRS1, MTTP, and 8q24.21.
This multi-ancestry genome-wide association meta-analysis examined germline susceptibility to all-cause hepatocellular carcinoma (HCC) across 15 cohorts, including 17,697 affected individuals and 2,715,683 controls.
STR typing from punched FFPE tissues: resolving suspected contamination and fetal-maternal mixture in two cases.
Two casework applications used targeted punches from formalin-fixed, paraffin-embedded tissue followed by STR profiling. In one, a focus of high-grade urothelial carcinoma in a prostate surgical specimen prompted…
Neonatal diabetes due to a truncating RFX6 mutation in an extremely low birth weight preterm infant with Mitchell-Riley syndrome.
A preterm male infant, born at 31 weeks with a birth weight of 880 g, presented with duodenal atresia and severe hyperglycemia starting on postnatal day 4.
Germline variants and impact on lung cancer outcomes following chemotherapy: A systematic review.
This systematic review examined the impact of germline genetic variants on chemotherapy outcomes in lung cancer patients of European ancestry.
Convergent imaging and genetic signatures of gray matter atrophy in Parkinson's disease.
This meta-analysis examined gray matter volume (GMV) abnormalities in Parkinson's disease (PD) by integrating neuroimaging data from 3,212 PD patients and 2,056 controls.
Three cases of hereditary hypomagnesemia with secondary hypocalcemia caused by novel TRPM6 gene mutations and a literature review.
Three Chinese children presented with afebrile convulsions, with one also experiencing gross hematuria. Genetic testing revealed four novel mutations in the TRPM6 gene.
Clustered monoallelic mosaicism in twins suggests previously unrecognized path of mutagenesis.
We report monozygotic twins with HNRNPU-related neurodevelopmental disorder who harbor two closely spaced mosaic single-nucleotide deletions on the same allele (c.1463del [p.Pro488Glnfs∗13] and c.1466del…
Stay updated for free
Get the 3 most interesting publications in one specialty each week.
Weekly email. Unsubscribe anytime.
Want this personalized?
Stop searching the literature. Choose what you follow and xxcode will build your personalized medical digest.
- Your specialties
- Your filters and thresholds
- Clinical Research + Case Reports, tuned separately
- Automatic weekly delivery
- Audio and text
Prefer listening? Personalized audio digests are available with Pro.