January 2024 in “Genetics in Medicine Open” Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.
September 2008 in “Pediatric Rheumatology” Two children with lysinuric protein intolerance showed symptoms similar to lupus.
107 citations,
March 2014 in “BoneKEy Reports” Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
35 citations,
October 2011 in “Medicine and science in sports and exercise” Muscles can make their own androgens, which may help muscle growth.
15 citations,
October 2012 in “Journal of child neurology” The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
13 citations,
January 2014 in “Journal of Veterinary Internal Medicine” The cat's hypothyroidism was successfully managed with levothyroxine, leading to a stable condition.
11 citations,
October 2021 in “Orphanet journal of rare diseases” Patients with RASopathies are at risk for autoimmune disorders and should be routinely screened.
11 citations,
September 2021 in “American Journal of Medical Genetics Part A” Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
9 citations,
August 2021 in “Journal of clinical medicine” Pili torti is a rare condition where hair is twisted and breaks easily, often linked to genetic disorders or other health issues.
8 citations,
May 2022 in “Orphanet Journal of Rare Diseases” The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.
4 citations,
February 2022 in “International Journal of Molecular Sciences” Myotonic Dystrophy may age cells faster, and drugs that target aging could be potential treatments.
3 citations,
November 2021 in “Applied Microscopy” Hair microscopy is a simple and cost-effective method to help diagnose systemic diseases in children.
3 citations,
November 2015 in “Endocrinology, Diabetes & Metabolism Case Reports” Ring Chromosome 11 may be linked to conditions like early puberty, excessive hair growth, hair loss, and type 2 diabetes.
3 citations,
January 2015 in “Indian journal of paediatric dermatology” Oral isotretinoin temporarily improved skin symptoms in a child with IFAP syndrome.
1 citations,
June 2023 in “Genes” Hair loss from Alopecia Areata is caused by both genes and environment, with several treatments available but challenges in cost and relapse remain.
1 citations,
May 2023 in “European Journal of Human Genetics” 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.
January 2024 in “Clinical, cosmetic and investigational dermatology” A child with a rare vitamin D-resistant condition improved with treatment.
December 2023 in “American journal of medical genetics. Part A” A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
December 2023 in “Clinical Cosmetic and Investigational Dermatology” An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.
April 2023 in “International journal of molecular sciences” People with Collagen VI-related myopathies may often have hair loss and scalp issues.
March 2023 in “International journal of trichology” Six genetic conditions are often linked to complete scalp hair loss in children.
57 citations,
August 1998 in “The journal of small animal practice/Journal of small animal practice” Malassezia-associated dermatitis can cause itching in cats with feline paraneoplastic alopecia.
51 citations,
September 2015 in “Medical Clinics of North America” The conclusion is that acne, alopecia, and hyperhidrosis are common skin issues with various treatments available, and accurate diagnosis is key for effective management.
38 citations,
January 2013 in “Analyst” The study found that Ziziphus jujuba seeds contain beneficial compounds for treating insomnia and anxiety and that the methods used are effective for assessing their quality.
20 citations,
January 2006 in “Clinics in Plastic Surgery” Tumescent liposuction is safe and effective for different cosmetic surgeries if done within recommended limits.
April 2008 in “Companion Animal” The cat's skin condition was linked to cancer and did not improve with treatment, leading to a poor outcome.
277 citations,
July 2011 in “Journal of the Dermatology Nurses’ Association” The skin's layers protect, sense, and regulate the body's internal balance, but can be prone to cancer.
205 citations,
July 2009 in “Journal of Dermatological Science” Male and female skin differ in many ways, which could lead to gender-specific skin treatments.
183 citations,
January 1987 in “British Journal of Anaesthesia” Opioid painkillers can cause many side effects, including breathing problems and addiction, but are generally considered safe when used properly.
150 citations,
June 2014 in “Biomaterials” Peptide hydrogels heal burn wounds faster and better than standard dressings.