research Type A insulin resistance syndrome due to a novel heterozygous c.3486_3503del (p. Arg1163_Ala1168del) INSR gene mutation in an adolescent girl and her mother
A new gene mutation causes insulin resistance in a girl and her mother.
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960-990 / 1000+ results research When Recurrent Strokes, Back Pain, and Alopecia Constitute a Hereditary Cause of Small-Vessel Disease, CARASIL in an Arabic Woman
CARASIL, a rare genetic disorder, was confirmed in an Arabic woman, highlighting its rarity and need for stroke prevention.
research Muir-torre syndrome in two families in Leicestershire, United Kingdom
Recognizing minor skin lesions can help identify serious cancer syndromes.
research Novel <b><i>ABCD1</i></b> Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum
Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.
research Polycystic ovary syndrome in North America
PCOS is a common and costly condition in North American women, causing various health issues like obesity, diabetes, and fertility problems.
research Netherton Syndrome Associated with Growth Hormone Deficiency
Growth hormone therapy can improve growth in Netherton syndrome patients with growth hormone deficiency.
research Early Onset Werner Syndrome
Consider Werner syndrome in young patients with early aging signs and metabolic issues.
research Hairline Design in Hair Replacement Surgery
Dr. Michael Beehner recommends a personalized, careful approach to hairline design in hair replacement surgery for a natural look.
research The current state of play in the histopathologic assessment of alopecia: two for one or one for two?
The document concludes that choosing the right biopsy site is crucial for accurate alopecia diagnosis, and combining methods can improve results.
research LASER HAIR TRANSPLANTATION
Laser hair transplantation can be effective but should be limited to small areas and requires more training to ensure safety and effectiveness.
research THIN-LAYER DRYING FROM WASTES POMEGRANATE PEEL
Drying pomegranate peel is profitable and useful for various industries.
research Abstract 22: Tafluprost, a Prostaglandin F2α Analog, Has Therapeutic Potential for Androgenic Alopecia through Modulation of Hair Cycle
Tafluprost could be a potential treatment for hair loss by promoting hair growth phase changes.
research Abstract 21: Preoperative Versus Postoperative Language Specialization in Infants with Sagittal Craniosynostosis: An ERP Study
Surgery may help infants with sagittal craniosynostosis develop more typical language processing.
research Letter: Re: Hair Transplantation for Reconstruction of Scalp Defects Using Artificial Dermis
The author believes artificial dermis might not be the best first option for hair transplant surgeons when other surgical choices exist for scalp reconstruction.
research Turner's syndrome associated with psoriasis and alopecia areata
Turner's syndrome may be linked to autoimmune diseases like psoriasis and alopecia areata, needing comprehensive care.
research MON-330 Cushing Syndrome Secondary to Neuroendocrine Lung Carcinoma: To X-Ray or Not to X-Ray?
A chest X-ray can effectively diagnose ectopic ACTH secretion from lung tumors.
research Nevoid basal cell carcinoma syndrome. Some histologic observations on the cutaneous lesions
Nevoid basal cell carcinomas start in the skin's top layer and hair follicles.
research Case Report: PTCH1 splice-site mutation and sonidegib treatment in Gorlin-Goltz syndrome: clinical insights from a family case study
Personalized sonidegib dosing can effectively treat Gorlin-Goltz syndrome with fewer side effects.
research Trichothiodystrophy in a child with occult learning disorder
Early diagnosis and a multidisciplinary approach are crucial for children with Trichothiodystrophy and hidden learning disorders.
research THE HEART OF IT ALL: DILATED CARDIOMYOPATHY AS THE INITIAL PRESENTATION OF ANTIPHOSPHOLIPID SYNDROME
Middle-aged women with dilated cardiomyopathy should be screened for antiphospholipid syndrome.
research SUN-287 A Case of Ectopic Neurohypophysis
The patient with a misplaced pituitary gland and interrupted pituitary stalk is being treated with hormone replacement.
research Diagnosis, Management, and Associated Comorbidities of Polycystic Ovary Syndrome: A Narrative Review
Early detection and comprehensive treatment of PCOS are crucial due to its long-term health impacts and associated risks.
research An Interesting Case of Hepatic Adrenocortical Carcinoma.
A woman had a rare liver tumor causing male-like physical changes, highlighting the need for thorough checks when such symptoms appear.
research FOXN1 deficient nude severe combined immunodeficiency
FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
research 40194 Polycystic Ovary Syndrome Diagnosis Does Not Predict Increased Hidradenitis Suppurativa Disease Severity
Having PCOS does not make hidradenitis suppurativa worse.
research Atypical pediatric presentation of alopecic and aseptic nodules of the scalp with features of dissecting cellulitis
A 9-year-old boy had a rare scalp condition usually seen in young men.
research A Teenage Girl with Unexpected Pubertal Changes
The girl's unexpected pubic hair growth led to a diagnosis different from complete androgen insensitivity syndrome.
research Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome
A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
research SUN-069 A 14 Year Old Female with Primary Amenorrhea
A 14-year-old girl with no menstrual period was diagnosed with Swyer Syndrome and treated for a related cancer risk.
research Clinical Evaluation of COVID-19 Survivors at a Public Multidisciplinary Health Clinic
Most COVID-19 survivors developed post-acute symptoms, especially if they had been in the ICU, but the severity of initial infection didn't predict these symptoms.