Important medical research and remarkable case reports worth knowing.
Selected from high-relevance medical literature published in the last 14 days.
MED25-related developmental disorder (Basel-Vanagaite-Smirin-Yosef syndrome) is a rare autosomal recessive disorder, defined by severe neurodevelopmental delay, corpus callosum abnormalities, ocular involvement…
Read caseThis report details two siblings with compound heterozygous mutations in the FLAD1 gene, resulting in adrenal insufficiency, a previously unreported association.
A 29-year-old woman with a history of 7 years of infertility was diagnosed with cytochrome P450 oxidoreductase deficiency and uterus didelphys.
A woman with Prader-Willi syndrome (PWS) presented with poorly controlled diabetes mellitus, characterized by severe insulin resistance and uncontrollable hyperphagia leading to morbid obesity.
A patient with VEXAS syndrome presented with neck swelling, headache, elevated inflammatory markers, leukopenia, macrocytic anemia, and thrombocytopenia. Bone marrow analysis showed no dysplasia or increased blasts.
A young man presented with severe childhood-onset paroxysmal pain triggered by heat, alongside autonomic dysfunction and skeletal abnormalities.
A 34-year-old male with EEC syndrome was found to have a heterozygous TP63 c.925A > G variant through whole-exome sequencing.
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that affects both upper and lower motor neurons, disturbing communication between the brain and muscles.
A 3-year-old male presented with intermittent convulsions and chronic hyponatremia. Genetic testing revealed a de novo hemizygous variant in the AVPR2 gene, confirming nephrogenic syndrome of inappropriate antidiuresis…
A 50-year-old woman presented with severe anemia due to heavy menometrorrhagia. Initial evaluations were unremarkable, but exploratory laparotomy revealed a peritoneal nodule.
This case report discusses four families with anophthalmia/microphthalmia (A/M) and associated copy number variations (CNVs).
To elucidate the genetic underpinnings of short stature in a familial cohort of five individuals.
Showing 12 of 39 publications that cleared our clinical screen in the last 14 days.
Get the 3 most interesting publications in one specialty each week.
Weekly email. Unsubscribe anytime.
Stop searching the literature. Choose what you follow and xxcode will build your personalized medical digest.
Prefer listening? Personalized audio digests are available with Pro.