research Identification of a Novel MPL Loss of Function Mutation in a Patient with Cyclic Thrombocytopenia and Characterization of This Syndrome
A new gene mutation may cause cyclic thrombocytopenia by affecting platelet production.
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930-960 / 1000+ resultsresearch Importancia de la pseudopelada de Brocq en la práctica de la medicina estética capilar
La detección temprana y precisa de la pseudopelada de Brocq es crucial para detener su progresión.
research Insights learned from L457(3.43)R, an activating mutant of the human lutropin receptor
The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.
research Balint’s syndrome—missed or mistaken?
The document concludes that early diagnosis of Balint's syndrome is crucial for effective treatment and that understanding drug interactions, like between ritonavir and statins, is important for patient care.
research Association between male pattern baldness and testicular germ cell tumor: a meta-analysis
Baldness may lower the risk of testicular cancer.
research Hair Metal Dysregulation in Parkinson's Disease: Implications for Diagnosis and Gut-Brain Axis Involvement
research Monilethrix: Beaded hair and hypotrichosis in a child
A 9-year-old girl has a rare hair disorder causing beaded, sparse hair.
research An Atypical Initial Manifestation of Systemic Lupus Erythematosus: Lupus Enteritis Accompanied by Intestinal Pseudo-Obstruction and Bilateral Hydronephroureter
A woman with lupus had rare severe symptoms but improved with treatment.
research WHEN SILENCE TAKES OVER: A CASE OF CATATONIC SYNDROME REVEALING SYSTEMIC LUPUS ERYTHEMATOSUS
Catatonia can be a rare sign of lupus, needing careful diagnosis and treatment.
research Monilethrix
A 12-year-old girl was diagnosed with monilethrix, a genetic condition causing fragile, beaded hair that breaks easily, with no effective treatment available.
research Dramatic Clinical Improvement With Biotin Mega‐Dose Therapy in a Neonate With Holocarboxylase Synthetase Deficiency
Biotin mega-dose therapy led to dramatic improvement in a newborn with a rare metabolic disorder.
research Dermpath & Clinic: Telangiectasia macularis eruptiva perstans
Brodalumab is more effective than ustekinumab in treating psoriasis.
research Congenital atrichia and hypotrichosis
The document emphasizes the importance of correctly identifying and classifying genetic hair disorders to help diagnose related health conditions.
research Les alopécies dites biphasiques
Biphasic alopecia often leads to permanent hair loss and its progression varies widely among individuals.
research Unusual Presentation of Childhood Leukemia With Vaginal Bleeding: A Case Report
Leukemia should be considered in teens with unexplained bleeding.
research Novel D323G mutation of DSG 4 gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix
A new DSG4 gene mutation causes hair defects in a young girl.
research Basal cell carcinoma of the scalp shows distinct features from the face in Asians
Scalp basal cell carcinoma in Asians is different from facial basal cell carcinoma, with unique features like being more common in younger people and having larger tumors.
research Novel RNF113A Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother
A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
research Lupus panniculitis of the scalp presenting with linear alopecia along the lines of Blaschko
research Endocrine Treatment of Transsexual Persons:An Endocrine Society Clinical Practice Guideline
The guideline recommends mental health involvement in diagnosing gender identity disorder and outlines hormone and surgical treatment protocols, emphasizing safety, informed consent, and long-term monitoring.
research Proteasome Inhibitors: An Expanding Army Attacking a Unique Target
Proteasome inhibitors are promising treatments for various cancers, autoimmune diseases, and other conditions.
research Is dehydroepiandrosterone a hormone?
Dehydroepiandrosterone (DHEA) is a prohormone important for producing sex steroids and has potential health benefits.
research The Neurobiology of Sexual Function
Testosterone is important for men's sexual function, may help some women's sexual desire, while other hormones and neurotransmitters also play complex roles in sexual behavior.
research Wnt Signaling in Skin Development, Homeostasis, and Disease
Wnt signaling is crucial for skin development and health, and its disruption can cause skin diseases.
research The North American Menopause Society Recommendations for Clinical Care of Midlife Women
The NAMS 2014 recommendations guide healthcare providers on treating health issues in midlife women, emphasizing individualized care and informed decision-making.
research Penetration of drugs through skin, a complex rate-controlling membrane
The skin is a complex barrier for drug penetration, but understanding its structure and interactions can improve drug delivery methods.
research Protoporphyrin IX: the Good, the Bad, and the Ugly
Protoporphyrin IX is useful in cancer treatment but can cause health problems if not properly regulated.
research Hormesis and medicine
Low doses of some substances can be beneficial, while high doses can be harmful or toxic.
research Patient factors influencing dermal filler complications: prevention, assessment, and treatment
Choosing the right patients, using proper techniques, and having thorough knowledge are key to preventing and managing dermal filler complications.
research From causes of aging to death from COVID-19
Older age and related diseases increase COVID-19 risk, but anti-aging treatments might help.