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600-630 / 1000+ resultsresearch SUN-439 Hypothalamic-Pituitary-Adrenal Axis Disruption from Unregulated Glucocorticoid Use: A Case Series
Unregulated glucocorticoid use can disrupt hormone balance and cause serious health issues.
research A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome
A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
research Response
The authors agree they didn't follow the original criteria strictly but found the Ottawa rule effective in all tested patients and suggest it might have wider use.
research The effect of hormones of the hypothalamic-pituitary-target gland axes in a kidney-yang deficiency syndrome model
Kidney-yang deficiency syndrome causes hormonal imbalances and various physical symptoms.
research Histopathology of Hypotrichosis with Juvenile Macular Dystrophy
The research found that a specific gene mutation causes fewer hair follicles and disrupted hair growth cycles, leading to thin and short hair in people with Hypotrichosis with Juvenile Macular Dystrophy.
research An unusual variant of granulomatous adnexotropic cutaneous T-cell lymphoma
A rare type of skin lymphoma was identified, affecting hair follicles and sweat glands.
research Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis
New genetic mutations linked to rare skin disorders were found in three newborns.
research Post COVID-19 Sequelae in Adults: A Review
Post-COVID syndrome causes long-lasting symptoms like fatigue, breathing issues, and anxiety.
research Clinical features of non‐classical 21‐hydroxylase deficiency after normal newborn mass screening
Non-classical 21-hydroxylase deficiency can be missed in newborn screenings and should be considered in cases of early puberty or virilization.
research A case of rapid progression of central centrifugal cicatricial alopecia after COVID-19 infection
COVID-19 may worsen hair loss in people with a certain type of scarring alopecia, but early treatment can help improve symptoms and hair regrowth.
research Sa1389: LESSONS FROM HEPATITIS C TREATMENT DURING THE COVID-19 PANDEMIC: DECREASED RESOURCE UTILIZATION LEADS TO SIMILAR EFFICACY IN BRITISH COLUMBIA, CANADA
Supplemental testosterone may lower liver cancer risk in hepatitis C patients.
research Table 1_Clinical features and genetic analysis of acrodermatitis enteropathica in an ethnic minority infant from Western China: a case report and literature review.xlsx
Early genetic testing and zinc therapy are crucial for managing acrodermatitis enteropathica effectively.
research Polyglandular autoimmune syndrome type 4 with GAD antibody and dystonia
Dystonia may be part of PAS-4 and linked to immune issues.
research Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency revisited: an update with a special focus on adolescent and adult women
The update highlights that non-classic congenital adrenal hyperplasia is common in women with excess male hormones, requires specific hormone tests for diagnosis, and has various treatment options depending on age and symptoms.
research Increased risk of chronic fatigue and hair loss following COVID-19 in individuals with hypohidrotic ectodermal dysplasia
People with hypohidrotic ectodermal dysplasia are more likely to experience long-term fatigue and hair loss after COVID-19.
research BH10 Nailing the diagnosis
Consider amyloidosis in patients with specific nail changes and check for systemic issues.
research DIAGNOSTIC VALUE OF CHROMOSOMAL MICROARRAY ANALYSIS IN PATIENTS WITH CONGENITAL ANOMALIES AND DYSMORPHIC FEATURES; DETAILS OF TWO NEW PATIENTS WITH 2q33 DELETIONS
Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
research Hair loss and cardiovascular health
Hair loss may be linked to cardiovascular health problems.
research Chronic graft versus host disease and skin
cGVHD often severely affects the skin, causing rapid aging and other issues.
research Impact of subclinical hypothyroidism on endocrine features in patients with polycystic ovary syndrome
Subclinical hypothyroidism in women with PCOS affects thyroid and hormone interactions but not ovary structure.
research Telogen effluvium as the first symptom of Crohn's disease in a child.
Hair loss in a child was an early sign of Crohn's disease.
research Polycystic Ovarian Syndrome in Taiwanese Women
Obesity is a major risk factor for insulin resistance in Taiwanese women with PCOS, which is also an independent risk factor for metabolic syndrome.
research 6874 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets
A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.
research Short- and mid-term outcomes of multisystem inflammatory syndrome in children: a longitudinal prospective single-center cohort study
Most children with MIS-C showed significant improvement by 6 months.
research Dyschromatosis Universalis Hereditaria: Report of a case and Review of the Literature
A 19-month-old Saudi girl had a rare skin condition with no other defects, and her family was unaffected.
research Neurological post‐acute sequelae of SARS‐CoV ‐2 infection
Long COVID affects over half of COVID-19 survivors, causing a range of symptoms like fatigue and neurological issues, with no specific treatment yet.
research Acrodermatitis enteropathica: Case report analyses of zinc metabolism electron microscopic examination and immune function
Zinc supplements effectively treat acrodermatitis enteropathica.
research A 15-Year-Old Girl with Trichorhinophalangeal Syndrome Type 1 with Non-ossifying Fibroma in Femur: A Case Report
A girl with a rare genetic disorder had a unique bone condition, highlighting the need for careful diagnosis and suggesting the disorder might be more common than thought.
research A Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutation
A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.