research Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.
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30-60 / 478 resultsresearch Normal Pubertal Development: Part II: Clinical Aspects of Puberty
Accurate assessment of puberty using Tanner staging is crucial for identifying normal and abnormal development.
research A Case of IFAP Syndrome with Severe Atopic Dermatitis
A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
research Ichthyosis Follicularis Alopecia and Photophobia Syndrome: Transient Improvement with Oral Isotretinoin
Oral isotretinoin temporarily improved skin symptoms in a child with IFAP syndrome.
research Instructions for Geriatric Patients
The document provides detailed care instructions for elderly patients.
research Vulvar Discomfort in a 10-Year-Old Girl
A 10-year-old girl had genital pain from a small, red, crusty mass on her labia.
research A Case of MBTPS1-Related Disorder Due to Compound Heterozygous Variants in MBTPS1 Gene: Genotype-Phenotype Expansion and the Emergence of a Novel Syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research An Adolescent Girl Presenting With Primary Amenorrhea: A Case Report of Complete Androgen Insensitivity Syndrome
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.
research Advanced Intelligent Systems for Surgical Robotics
Surgical robots have improved but still can't perform tasks or make decisions on their own.
research Single-Layer vs. Double-Layer Donor Scalp Wound Closure in Strip Harvest
Double-layer scalp wound closure is better than single-layer closure after strip hair transplant surgery.
research Oral Presentations: Abstracts of the Urological Society of Australia and New Zealand Annual Scientific Meeting, Melbourne, Australia
Urologists should monitor mental health in patients taking finasteride due to potential links to suicidal thoughts, adjusting dosage or stopping use if necessary. More research is needed to confirm if finasteride causes these thoughts.
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 Updates to Male Infertility: AUA/ASRM Guideline 2024
The 2024 guideline updates recommendations for genetic testing, imaging, and sperm retrieval in male infertility.
research Neuropathic Pruritus: An Underrecognized and Often Misdiagnosed and Difficult to Treat Medical Condition
Neuropathic pruritus is a commonly overlooked and wrongly diagnosed type of chronic itching that is hard to treat.
research Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia is a rare inherited disease causing hormone imbalances, affecting growth, fertility, and heart health, diagnosed through blood tests and treated with medication and lifestyle changes.
research A Rare Case of Keratosis Follicularis Spinulosa Decalvans Affecting a Female Child
A girl with a rare skin condition called Keratosis Follicularis Spinulosa Decalvans showed no significant improvement with treatment.
research 5-Alpha-Reductase Deficiency in a Saudi Girl
A Saudi individual initially identified as a girl had a genetic disorder affecting gender development.
research References
research Abstracts From The 55th European Society Of Human Genetics Conference: E-Posters
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.
research Cutaneous Manifestations of Mucopolysaccharidoses
People with Mucopolysaccharidoses often have skin problems like thick skin and extra hair, and recognizing these can help diagnose and treat the condition early.
research Unusual Presentation of Denys-Drash Syndrome in a Girl with Undisclosed Consumption of Biotin
A girl with Denys-Drash syndrome was misdiagnosed due to biotin affecting her hormone test results.
research Terazosin or Baclofen in Young Men with Chronic Orchialgia: A Cohort Study of 499 Patients
Both terazosin and baclofen effectively reduce pain in young men with chronic testicular pain, with no difference in their effectiveness.
research Dermatoses of Pregnancy
Pregnancy can cause various skin changes and diseases, with PUPPP being the most common skin condition specific to pregnancy.
research Dermatologic Manifestations of Endocrine Disorders
Skin changes can help diagnose and manage endocrine disorders like thyroid problems, diabetes, and adrenal gland conditions.
research Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome
The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
research Cutaneous Manifestations of Obesity and the Metabolic Syndrome
Obesity is linked to various skin disorders, which can help with early diagnosis and prevention of long-term health issues.
research Abstracts
Young HS patients often have other physical and mental health issues, and research on HS covers a wide range of topics including genetics, triggers, treatments, and the need for more data.
research Proceedings of the RAMI Intern Section Meeting, 18th January 2014
The meeting discussed medical findings, including benefits of certain treatments for cancer and heart conditions, and highlighted issues like poor adherence to preventive measures and skill gaps among interns.
research Atlas of Geriatric Dermatology
The book details skin conditions in older adults, their link to mental health, cancer treatment importance, hair loss remedies, and managing autoimmune and itchy skin.
research Philadelphia Dermatological Society
Dermatological conditions are complex and treatments often have mixed results.