research Case report: Heterozygous mutation in HTRA1 causing typical cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
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960-990 / 1000+ resultsresearch Primary High‐Grade Ovarian Sertoli–Leydig Cell Tumor With Bilateral Adnexal Involvement in a Patient Diagnosed With Peutz–Jeghers Syndrome
Consider Sertoli-Leydig cell tumors in Peutz-Jeghers syndrome patients with adnexal masses.
research Pathophysiology and Complications of Polycystic Ovary Syndrome (PCOS): A Stepwise Visual Infographic
PCOS is influenced by genetics and lifestyle, causing hormonal imbalances and health risks like diabetes and infertility.
research Phenotypic heterogeneity in human genetic diseases: ultrasensitivity-mediated threshold effects as a unifying molecular mechanism
Different people show different symptoms for genetic diseases because of how sensitive their bodies are to small changes in important factors.
research Telogen Effluvium as a complication of scalp reconstruction with tissue expander: a case report.
A woman had temporary hair loss after scalp surgery, which is a rare but self-healing condition that surgeons should recognize to avoid wrong treatment.
research Case Report of Wound Treatment with Hyiodine Gel in an Occasional KID Syndrome Patient
Surgical debridement and targeted therapies can effectively heal chronic wounds in KID syndrome.
research Polycystic Ovarian Syndrome : Its Impact on Periodontal Disease
PCOS may be linked to gum disease, but more research is needed to confirm this.
research Você conhece esta síndrome? * Do you know this syndrome? *
Loose anagen hair syndrome causes easily pulled, thin hair in kids but is harmless and temporary.
research Uveodermatological syndrome in dogs: A review of diagnosis, management, and ophthalmic patient needs
Uveodermatological syndrome in dogs is hard to manage and can lead to blindness despite treatment.
research Androgen excess is the key element in polycystic ovary syndrome
Too much male hormone is the main cause of Polycystic Ovary Syndrome.
research 307 Phenotypic-genotypic expansion of plectinopathy in a patient with muscular dystrophy and immune-mediated myasthenia gravis
A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.
research A New CARASIL Family: Recurrent Lobar Hemorrhage as a Novel Characteristic of the Disease
CARASIL can cause different symptoms even with the same genetic mutation.
research Pressure Alopecia in a Pediatric Patient: A Case Report
Early detection and treatment are crucial to prevent permanent hair loss in children with pressure alopecia.
research Case of epidermolytic ichthyosis (bullous congenial ichthyosiform erythroderma) with a novel L157P mutation in KRT10 complicated by hypercalcemia
A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.
research High prevalence of chronic thyroiditis in patients with polycystic ovary syndrome
People with polycystic ovary syndrome have a higher chance of having chronic thyroiditis.
research Drug reaction with eosinophilia and systemic symptoms and severe involvement of digestive tract: description of two cases
Severe digestive issues in DRESS need early endoscopy for better treatment.
research Tumour regression predicts higher risk of sentinel node involvement in thin cutaneous melanomas
Shrinking skin cancer increases the chance of cancer in nearby lymph nodes.
research Gynecologic and andrologic dermatology and the metabolic syndrome
Skin diseases linked to insulin resistance should be managed to prevent diabetes and reduce heart disease risk.
research ACUTE ZINC DEPLETION SYNDROME DURING PARENTERAL HYPERALIMENTATION
A patient with zinc depletion improved after zinc supplementation during parenteral nutrition.
research Iatrogenic Cushing's Syndrome in a Patient With Salt-Wasting Congenital Adrenal Hyperplasia (SWCAH)
A patient with congenital adrenal hyperplasia improved after adjusting her medication to prevent Cushing's syndrome symptoms.
research Hair Tourniquet Syndrome, A missed diagnosis: Review of Literature
Doctors often miss Hair Tourniquet Syndrome, which can lead to serious damage if not treated quickly.
research The efficiency of a complementary approach to Stein-Leventhal Syndrome (Polycystic Ovary Syndrome) - a comprehensive review
research Clinical case of a patient with progressive supranuclear palsy – from symptom to diagnosis
Accurate diagnosis of progressive supranuclear palsy requires thorough neurological assessments and MRI.
research Tumor necrosis factor-alpha inhibitor associated psoriasiform alopecia (drug-induced psoriasiform alopecia)
Some medications for inflammation can cause a condition with scalp rashes and hair loss, often linked to Crohn's disease, and may require treatment changes to prevent permanent hair loss.
research Clouston syndrome: A complete genotype–Phenotype correlation after four decades and six generations
Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
research SUN-207 Hot Flashes, Flushing, and Sweating in a Middle-Aged Man with Pituitary Macroadenoma
Middle-aged men with unusual hot flashes should be checked for pituitary tumors.
research Pityriasis rubra pilaris: a rare inflammatory dermatosis
An 18-year-old woman was diagnosed with a rare skin condition called Pityriasis rubra pilaris.
research Overlapping of DRESS and Stevens-Johnson syndrome due to first-line antituberculosis drugs: a case report
Antituberculosis drugs can cause severe skin reactions, requiring careful diagnosis and treatment.
research Prevalence of the metabolic syndrome in African populations: A systematic review and meta-analysis
Metabolic syndrome is common in African populations, needing urgent prevention and treatment.
research Pathophysiological Mechanisms in Long COVID: A Mixed Method Systematic Review
Long COVID symptoms are linked to immune issues, poor blood flow, and lung problems.