research A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused byDSPmutations
A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
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research Omenn syndrome in a 10-month-old male with athymia and VACTERL association
A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
research 3212 Isolated basilar artery reversible cerebral vasoconstriction syndrome associated with finasteride and vaping
RCVS should be considered in thunderclap headaches, and MRA and DSA are better for diagnosis than CT angiogram.
research Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants
About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.
research Metabolic, Behavioral, and Reproductive Effects of Vertical Sleeve Gastrectomy in an Obese Rat Model of Polycystic Ovary Syndrome
Vertical sleeve gastrectomy improved metabolism, behavior, and reproduction in obese rats with PCOS.
research Identification of a Rare Variant in the SRD5A2 Gene in Siblings With 46,XY Disorders of Sexual Development
A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
research Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles
A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
research Disorders of sex development (DSD) 46.XY due to type 2 5-α reductase deficiency in three siblings: Case report from a low-resource setting
Three siblings with a rare genetic condition had abnormal sexual development and chose different gender identities, needing surgery and therapy.
research The laboratory in the multidisciplinary diagnosis of differences or disorders of sex development (DSD)
Diagnosing sex development disorders requires combining medical history, physical exams, imaging, lab tests, and genetic data.
research Vitamin D‐dependent rickets type I and type II
VDDR I and II are genetic disorders affecting vitamin D use, causing rickets, with VDDR I treatable by vitamin D supplements and VDDR II needing high doses and calcium.
research Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome
Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.
research Long‐read sequencing reveals SVA insertion in AP3B1 causing Hermansky–Pudlak syndrome 2
research Vogt-Koyanagi-Harada Disease with Oral Manifestations: A Rare Case Report
VKHD can include rare oral symptoms like discolored teeth.
research A woman with headaches and blurred vision
The woman was diagnosed with Vogt–Koyanagi–Harada disease and successfully treated with medication, restoring her vision and stopping headaches.
research Identifying 17-β-HSD3 Deficiency in Patients with Karyotype 46,XY Misdiagnosed with Androgen Insensitivity Syndrome: A Pediatric Case Report
Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.
research An eruption of numerous spiny papules in a pediatric transplant patient
Early recognition and treatment of VATS in transplant patients improve outcomes.
research Haplotype analysis ofVEGFgene polymorphisms in polycystic ovary syndrome
Certain gene variations are found in people with polycystic ovary syndrome.
research Early diagnosis of ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis syndrome: A case report
Early diagnosis and teamwork are crucial for managing ILVASC effectively.
research Steroid Sulfatase Deficiency and Androgen Activation Before and After Puberty
In STSD patients, the body compensates for low androgen levels by increasing another enzyme's activity.
research Novel splicing‐site mutation in DCAF17 gene causing Woodhouse‐Sakati syndrome in a large consanguineous family
A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
research A Girl with a Novel Splice Site Mutation in VDR Supports the Role of a Ligand-Independent VDR Function on Hair Cycling
A mutation in the VDR gene affects hair cycling without needing ligand binding.
research A rare manifestation of STING-associated vasculopathy with onset in infancy: a case report
Early genetic testing and JAK inhibitors can help treat systemic inflammation in SAVI patients.
research Hereditary vitamin D-resistant rickets (HVDRR) owing to a heterozygous mutation in the vitamin D receptor
A girl had rickets due to a gene mutation affecting vitamin D response.
research Development of a Visual Extension of the Severity of Alopecia Tool (VESALT) for Alopecia Areata
VESALT improves alopecia areata assessment by including non-scalp areas and is reliable and user-friendly.
research Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
research V07-10 SEMINAL VESICULOSCOPY FOR DIAGNOSIS AND MANAGEMENT OF HEMATOSPERMIA
The procedure involving seminal vesiculoscopy, TURED, and balloon dilation effectively treated a man's hematospermia and improved his dysorgasmia.
research AORTOCAVAL PARAGANGLIOMA IN VON HIPPEL-LINDAU DISEASE
VHL disease can cause early paragangliomas, needing lifelong monitoring.
research Videodermoscopy Scalp Psoriasis Severity Index (VSCAPSI): A useful tool for evaluation of scalp psoriasis
The VSCAPSI is a helpful method for evaluating the severity of scalp psoriasis.
research Viral reactivation in hospitalized patients with drug reaction with eosinophilia and systemic symptoms: A retrospective study from a tertiary medical center in the United States
Viral reactivation is rare at the time of DRESS diagnosis in the U.S.
research Cell Polarization Defects in Early Heart Development
Defects in certain proteins cause major heart abnormalities during early development.