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Ring Chromosome 11 may be linked to conditions like early puberty, excessive hair growth, hair loss, and type 2 diabetes.

Identical twins had different symptoms because one had more cells with an extra chromosome fragment in different tissues.

Hair steroid measurement is an effective method to diagnose and monitor CAH in developing countries.

A 36-year-old person with a female appearance but male chromosomes was diagnosed with a rare enzyme deficiency affecting sexual development.

A baby girl had two brain-related growths removed and is developing normally.

Netherton's syndrome is linked to high IgE levels and unique skin and hair symptoms, and may improve with ammonium lactate lotion and allergy management.

Wharton’s Jelly stem cells from the umbilical cord improve skin healing and hair growth without scarring.

The review suggests that a special cell-derived treatment shows promise for various skin conditions and hair growth but needs more research for confirmation.

The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.

Researchers made stem cells from human hair follicle cells with better efficiency than from skin cells.

Hair samples can be used to create stem cells easily and non-invasively.

The conclusion is that the new method makes collecting cells from plucked hair to create stem cells more efficient and less invasive.

An 11-year-old boy in Saudi Arabia has a rare case of hypoparathyroidism with severe brain calcifications but normal development and no known cause.

Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.

Loss of the Y chromosome and UTY gene activity increases cancer risk in men.

Dihydrotestosterone makes arteries stiffer in female mice by reducing estrogen receptor expression.

A 15-year-old girl with no menstrual period was diagnosed with a genetic condition that makes her body unable to respond to male hormones, leading to female characteristics despite having male genetic makeup.

The document explains how the male reproductive system works, its role in making testosterone, and how conditions like obesity can disrupt it, leading to low testosterone and fertility issues.

Dental pulp stem cells might not reliably become neurons.

The document reports unique growth lines in a child after Stevens-Johnson syndrome, skin reaction from parsnips and sun in a girl, and itchy skin with xanthomas in a boy with Alagille syndrome.

Deleting the MAD2L1 gene is tolerated in certain mouse cancer models.

Deleting the MAD2L1 gene in mice led to rapid tumor growth despite chromosomal instability.

Mutations in the NR3C1 gene cause a rare condition that affects hormone signaling and can lead to various symptoms, with dexamethasone as a treatment option.

A 19-year-old male had two rare skin conditions causing scarring and permanent hair loss.

The document concludes that certain genetic mutations and dietary factors are involved in acne development, and treatments like isotretinoin and diet changes can help manage it.

The conclusion is that genetic changes in the glucocorticoid receptor can lead to conditions affecting stress response, immunity, and metabolism, requiring personalized treatment.

Woodhouse-Sakati syndrome often causes sexual development issues, hair loss, learning disabilities, deafness, muscle contractions, limb pain, and diabetes.

Infertile men are more likely to produce sperm with abnormal chromosome numbers, which can affect pregnancy success and embryo health.

A boy with chromosome 13q deletion syndrome developed eye cancer, a woman with breast cancer lost vision due to a rare side-effect of her treatment, a man's vision worsened after using a hair loss drug, and two rare disorders were discussed. Optical Coherence Tomography is useful for diagnosing and monitoring these conditions.

Eye exams are crucial for kids with 13q deletion syndrome, tamoxifen can cause vision loss, Propecia may lead to cataracts, Lipoid Proteinosis causes skin bumps, and OCT is useful for diagnosing macular diseases.