research Abstract 14
A 15-year-old girl with rare reproductive disorders received hormone therapy to develop secondary sexual traits, but infertility persisted.
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270-300 / 1000+ resultsresearch Male infertility and genitourinary birth defects: there is more than meets the eye
Male infertility and genitourinary birth defects are often linked to genetic issues.
research Frequency of neuro-psychiatric dysfunction in anti-SSA/SSB exposed children with and without neonatal lupus
Anti-Ro exposed children had more reported neuro-psychiatric issues, but differences from healthy controls were not significant.
research Comparison clinical and metabolic effects of metformin and pioglitazone in polycystic ovary syndrome
Both metformin and pioglitazone improve PCOS symptoms, but pioglitazone is a good alternative for those who can't take metformin.
research An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature
Early diagnosis of Trichorhinophalangeal syndrome type 1 is crucial for treatment and was achieved through clinical examination and family history.
research P326: Cardiovascular features in adult individuals affected with Tatton-Brown-Rahman syndrome
Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.
research Advancements and challenges in stem cell transplantation for regenerative medicine
Stem cell transplantation shows promise for treating diseases but faces challenges like safety, ethics, and cost.
research Diurnal Preference Predicts Phase Differences in Expression of Human Peripheral Circadian Clock Genes
An individual's morning or evening preference can predict changes in their body clock gene expression.
research Genetic Hair Disorders: A Review
The conclusion is that genetic testing is important for diagnosing and treating various genetic hair disorders.
research Development and evaluation of novel rodent model of PCOS mimicking clinical phenotype in human disease
The new rodent model successfully mimics non-lean human PCOS symptoms.
research Cantú Syndrome Is Caused by Mutations in ABCC9
Cantú syndrome is caused by mutations in the ABCC9 gene.
research Drug Repurposing for Rare Diseases
Drug repurposing offers a faster, cheaper way to find treatments for rare diseases.
research Progenitor Cell Dysfunctions Underlie Some Diabetic Complications
Diabetes causes lasting cell dysfunctions, leading to serious complications even after blood sugar is controlled.
research Mammalian-specific ectodermal enhancers control the expression of Hoxc genes in developing nails and hair follicles
HoxC genes are crucial for normal hair and nail development.
research Overview of Caffeine Effects on Human Health and Emerging Delivery Strategies
Caffeine can boost health but may cause side effects like high blood pressure and migraines.
research Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis
A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
research Tackling Adverse Effects
research Challenges associated with the identification of germline variants on myeloid malignancy genomic profiling—a Singaporean experience
Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.
research Enhanced ex vivo skin retention of bicalutamide using a nano-in-micro composite: Drug-loaded lipid vesicles in a dissolving microarray patch
The new drug delivery system improves bicalutamide skin retention for better treatment of hair loss.
research Asymptomatic SARS-COV2 Infection or COVID-19 vaccination effect for severe multisystem inflammatory syndrome in a 6-year-old girl: case report and review of the literature
COVID-19 vaccination may be linked to MIS-C in children, highlighting the need for quick diagnosis and treatment.
research TONGUE, RED
research Use of diphenylcyclopropenone for alopecia areata treatment during pregnancy
DPCP may be safe for treating alopecia during pregnancy, but more research is needed.
research Frizzled Receptors in Development and Disease
Frizzled receptors are essential for various body development processes and maintaining certain body functions.
research Thou shall not heal: Overcoming the non-healing behaviour of diabetic foot ulcers by engineering the inflammatory microenvironment
Controlling inflammation can help heal diabetic foot ulcers.
research Diseases associated with hidranitis suppurativa: part 2 of a series on hidradenitis
Hidradenitis suppurativa is linked to various diseases like obesity, depression, arthritis, and Crohn's disease, but often occurs alone.
research Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome
IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.
research Resistance to the Insulin and Elevated Level of Androgen: A Major Cause of Polycystic Ovary Syndrome
Insulin resistance and high male hormone levels are major causes of Polycystic Ovary Syndrome.
research Pleiotropic Role of Notch Signaling in Human Skin Diseases
Notch signaling disruptions can cause various skin diseases.
research Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)
Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.
research Mesenchymal cell replacement corrects thymic hypoplasia in murine models of 22q11.2 deletion syndrome
Replacing defective mesenchymal cells with normal ones fixes thymic growth issues in 22q11.2DS mouse models.