research Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)
The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.
Search
for
Sort by
Research
960-990 / 1000+ results 
research Prevalence of polycystic ovary syndrome among reproductive females in Padgampora village of Pulwama, J&K, India
Raising awareness about PCOS in young females can help prevent long-term health issues.
research Porokeratotic adnexal ostial nevus: a paradigm of cutaneous mosaicism
PAON shows skin patterns due to genetic mosaicism.
research Ponatinib-induced pityriasis rubra pilaris-like adnexal dysmaturation: A case report
Ponatinib can cause a rare skin reaction that resolves with topical treatment and temporary drug discontinuation.
research Becker's Nevus Syndrome
Becker's Nevus Syndrome is a rare condition with a skin patch and possible bone and muscle abnormalities, treated mainly for appearance.
research Index of Suspicion
The girl's symptoms suggest a complex condition that's hard to diagnose despite normal test results.
research All ABSTRACT
Personalized, minimally invasive treatments improve urology outcomes.
research Assessment of prognostic markers of alopecia areata in pediatric patients
Early diagnosis and treatment of alopecia areata in children is crucial to prevent severe progression.
research RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
research An evaluation of the safety and efficacy of bimatoprost for eyelash growth in pediatric subjects
Bimatoprost is safe and improves eyelash growth in healthy kids but not in those with eyelash loss from chemotherapy or alopecia.
research Family functioning, psychopathology and quality of life in children and adolescents with alopecia areata
Alopecia areata negatively affects family life, mental health, and quality of life in young people.
research A case of twenty nail dystrophy affecting a 12 year old boy
A 12-year-old boy with twenty nail dystrophy, a condition affecting all nails, was treated conservatively due to its self-limiting nature and good prognosis.
research Genetic and other epidemiological risk factors of infants and children with hypospadias: a case control study
Older parental age, rural living, and specific genetic mutations increase hypospadias risk in children.
research Representations of Alopecia in Children's Literature
Children's books on alopecia need more medical accuracy and diversity to better support affected kids.
research Angioedema After Squaric Acid Treatment in a 6‐Year‐Old Girl
A 6-year-old girl had a rare allergic reaction to a hair regrowth treatment.
research A study on understanding and managing polycystic ovary syndrome in adolescent girls of 17-21 years age group with homoeopathic remedies
Homeopathic remedies can help manage PCOS symptoms in girls aged 17-21.
research A case series on pediatric tinea capitis
Early diagnosis and treatment of tinea capitis in children is crucial to prevent permanent hair loss and scarring.
research Autism spectrum disorder with iodine deficiency hypothyroidism in a 6‐year‐old boy
A 6-year-old boy with autism improved his thyroid function and growth after addressing iodine deficiency caused by picky eating, but his psychiatric symptoms and picky eating continued.
research Keratosis pilaris atrophicans faciei: An observational, descriptive, retrospective clinical study
Early diagnosis of Keratosis pilaris atrophicans faciei can lead to better, personalized treatments.
research A Retrospective Study on Alopecia Areata in Children: Clinical Characteristics and Treatment Choices
Alopecia areata in children is usually mild and effectively treated with strong topical steroids.
research Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes
People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.
research SAT0200 UNUSUAL SYSTEMIC LUPUS ERYTHEMATOSUS/SJOEGREN'S SYNDROME PHENOTYPE IN A PATIENT WITH A TNFAIP3 GENE MUTATION
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
research Optimizing treatment of compulsive hair pulling in children and young people: A case series from a pediatric psychodermatology service
A multidisciplinary approach with virtual sessions effectively reduces compulsive hair pulling in young people.
research Clinical Management of Youth with Gender Dysphoria in Vancouver
Most youth with gender dysphoria received hormones, had minor complications, and showed a decrease in suicide attempts after treatment.
research Awareness about PCOS and the Likelihood of Its Symptoms in Adolescent Girls in a Semi-Urban Set-Up: A Cross Sectional Study
Only 22% of teenage girls in the study knew about PCOS, despite many having symptoms.
research Visual Improvement in a Child With Periorbital Plexiform Neurofibroma Treated With Selumetinib: Case Report and Literature Review
Selumetinib significantly reduced tumor size and improved vision in a child with neurofibromatosis type 1.
research The Use of Human Dermal Papillae Conditioned Medium (HDPCM) on Aplasia Cutis Congenita in Lower Extremity due to Intrauterine Varicella Infection
HDPCM treatment healed a baby's congenital skin defect caused by varicella infection.
research Pigment epithelium‑derived factor short peptides facilitate full‑thickness cutaneous wound healing by promoting epithelial basal cell and hair follicle stem cell proliferation
Shortened PEDF peptides speed up skin wound healing by boosting cell growth.
research HIGH DEVELOPMENTAL AGE AND POOR HAIR MULTI-ELEMENT PROFILE IN A 3.75-YEAR-OLD GIRL − DIFFERENTIAL RATES IN SHAPING OF BODY ORGAN GROWTH
A 3.75-year-old girl showed that different body organs can grow at different rates.
research Airway Involvement in Conradi–Hünermann–Happle Syndrome: A Novel Clinical Manifestation
Airway issues can occur in Conradi–Hünermann–Happle syndrome and can be managed with minimally invasive procedures.