research Rhombencephalosynapsis presenting antenatally with ventriculomegaly/hydrocephalus in a likely case of Gomez–López-Hernández syndrome
A 2-year-old boy with a rare brain malformation may have Gomez–López-Hernández syndrome.
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research Metabolic dysfunction in obese Hispanic women with polycystic ovary syndrome
Obese Hispanic women with PCOS are at higher risk for metabolic problems than non-Hispanic white women.
research Clinical picture of infectious syphilis
The document concludes that syphilis has varied symptoms that are often missed, making clinical awareness crucial for diagnosis.
research Loss‐of‐function of Endothelin receptor type A results in Oro‐Oto‐Cardiac syndrome
A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.
research Finding Long-COVID: temporal topic modeling of electronic health records from the N3C and RECOVER programs
Long-COVID causes more health issues after COVID-19, varying by age, sex, and infection wave.
research Heterogeneity of Polymorphous Light Eruption: A Study of 105 Patients
The study found that polymorphous light eruption varies among patients and can be distinguished from benign summer light eruption by the time it takes for symptoms to appear after sun exposure.
research Interventions for central serous chorioretinopathy: a network meta-analysis
No treatment is clearly better for central serous chorioretinopathy, and more research is needed.
research Insulin resistance and β-cell dysfunction and the relationship with cardio-metabolic disorders among women with polycystic ovary syndrome
Women with PCOS have more insulin resistance and are more likely to have heart-related health issues, with insulin resistance being a bigger factor than β-cell problems.
research Ottawa, Ontario, Canada, February 13–16, 2013
The document concludes that various findings in rheumatology offer insights into disease severity, treatment responses, and potential risks in medication, with some limitations due to unspecified participant numbers.
research Analogs of human genetic skin disease in domesticated animals
Some domesticated animals have the same genetic skin diseases as humans, which can help doctors understand human genetic mutations.
research MendelVar: gene prioritization at GWAS loci using phenotypic enrichment of Mendelian disease genes
MendelVar is a tool that helps identify important genes by combining GWAS data with Mendelian disease information.
research Vitiligo: are microbes to blame?
Microbes might play a role in vitiligo.
research Hutchinson-Gilford syndrome: History, causes, phenotype and research advances
Hutchinson-Gilford Progeria Syndrome causes rapid aging from a genetic mutation, with no cure but ongoing research into potential treatments.
research VIII International Conference "Interdisciplinary aspects of diseases of the skin and mucous membranes" 11-12th March 2022
Higher IL-31 levels are linked to worse itching in chronic kidney disease patients.
research Woodhouse-Sakati Syndrome with Unique Unreported Previous Findings
Woodhouse-Sakati Syndrome can include unique symptoms like liver issues and low growth hormone.
research Cutaneous Lupus Erythematosus
The document concludes that Cutaneous Lupus Erythematosus has different forms, is influenced by genetic and environmental factors, and can be treated with various medications, but more targeted therapies are needed.
research Unravelling the link between insulin resistance and androgen excess
AKR1C3 could be a treatment target for metabolic issues in PCOS.
research NEW YORK ACADEMY OF MEDICINE, SECTION OF DERMATOLOGY AND SYPHILOLOGY
Diagnosing and treating skin conditions is challenging, especially when drug reactions mimic other diseases.
research Loss of Keratin K2 Expression Causes Aberrant Aggregation of K10, Hyperkeratosis, and Inflammation
Loss of keratin K2 causes skin problems and inflammation.
research Obesity and the skin: Skin physiology and skin manifestations of obesity
Obesity affects skin health, causing conditions like acanthosis nigricans and may require different treatment approaches.
research Testosterone Treatment in Women – An Overview
Testosterone treatment can improve sexual function and bone density in women but may have adverse effects and requires more research on safety and guidelines.
research Endocrinopathies and Other Disorders Inducing a Polycystic Ovary Syndrome Phenotype
Some conditions mimic PCOS symptoms and need careful diagnosis to treat potentially serious health issues.
research Abstracts
Young HS patients often have other physical and mental health issues, and research on HS covers a wide range of topics including genetics, triggers, treatments, and the need for more data.
research POLYCYSTIC OVARY SYNDROME: DIVERSE CLINICAL PRESENTATIONS ACROSS ADOLESCENCE, REPRODUCTIVE AGE, AND MENOPAUSE
PCOS symptoms vary by age, affecting diagnosis and treatment.
research Acne and acneiform eruptions
Early treatment of acne is crucial to prevent scarring and psychological effects.
research Cardiometabolic and neuroimaging correlates of cognitive function in polycystic ovary syndrome
Women with PCOS have altered brain structure and reduced cognitive performance.
research Myotonic dystrophy type 1
There is no cure for myotonic dystrophy type 1, so treatment focuses on managing symptoms and complications.
research Clinical Profile and Outcomes of Filipino Lupus Patients with Myocarditis in a Tertiary Hospital
Early immunosuppressive therapy leads to favorable outcomes in Filipino lupus patients with myocarditis.
research New clinico‐genetic classification of trichothiodystrophy
A new classification for trichothiodystrophy helps identify genetic causes and potential treatments.
research 43367 Infantile Pacinian Neurofibroma: A Rare Neurogenic Tumor
A rare benign scalp tumor in an infant requires surgical removal.