10 citations,
November 2018 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” Early diagnosis of Trichorhinophalangeal syndrome type 1 is crucial for treatment and was achieved through clinical examination and family history.
2 citations,
April 2023 in “Curēus” Valproic acid can cause muscle damage and liver issues, which improve after stopping the drug.
148 citations,
May 2012 in “The American Journal of Human Genetics” Cantú syndrome is caused by mutations in the ABCC9 gene.
10 citations,
October 2017 in “Pediatric neurology” Biotin and acetazolamide improved hair and nail growth, mental function, and reduced headaches in a child with autism.
7 citations,
January 2015 in “Case reports in genetics” Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
2 citations,
January 2019 in “Medizinische Genetik” The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.
9 citations,
May 2014 in “BMC medical genetics” A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
1 citations,
November 2022 in “Diagnostics” A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
15 citations,
April 2017 in “Cell Stem Cell” Some brain cancer cells avoid immune system detection, and certain treatments could target this to slow their growth; also, certain fat cell precursors help regenerate hair and skin after injury.
1 citations,
May 2023 in “Cutis” Eating disorders can cause skin problems, which may help with early diagnosis and treatment.
34 citations,
July 2020 in “American journal of human genetics” Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.
28 citations,
November 2019 in “Gene” The ITGB6 gene is important for tissue repair and hair growth, and mutations can lead to enamel defects and other health issues.
January 2017 in “International journal of biomedical engineering and clinical science” Cri-du-chat syndrome can cause skin and oral lesions affecting nutrition and quality of life.
January 2014 in “International Journal of Clinical Medicine” Premature aging increases the risk of immune problems and autoimmune diseases.
January 2017 in “Journal of Investigative Dermatology Symposium Proceedings” The 2015 Hair Research Congress concluded that stem cells, maraviroc, and simvastatin could potentially treat Alopecia Areata, topical minoxidil, finasteride, and steroids could treat Frontal Fibrosing Alopecia, and PTGDR2 antagonists could also treat alopecia. They also found that low-level light therapy could help with hair loss, a robotic device could assist in hair extraction, and nutrition could aid hair growth. They suggested that Alopecia Areata is an inflammatory disorder, not a single disease, indicating a need for personalized treatments.
Meis2 is essential for touch sensation and nerve function in mice.
N793 may improve hair density in people with mild hair thinning.
January 2023 in “Brazilian Journals Editora eBooks” Girls with Autism Spectrum Disorder may show different symptoms than boys, leading to missed or delayed diagnoses.
8 citations,
May 2017 in “IUBMB life” Astrotactin proteins are important for brain and skin development and are linked to several neurodevelopmental disorders.
14 citations,
October 2018 in “PloS one” Deleting the Far2 gene in mice causes sebaceous gland issues and patchy hair loss.
People with Down syndrome have a higher risk of skin disorders and need better screening and treatment.
8 citations,
April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Certain genetic changes in the LSS gene cause a rare skin and hair condition.
87 citations,
July 2018 in “Biochimica et Biophysica Acta (BBA) - Molecular Cell Research” Mice studies show that Protein Phosphatase 2A is crucial for cell growth, development, and disease prevention.
There is no cure for myotonic dystrophy type 1, so treatment focuses on managing symptoms and complications.
January 2023 in “Brazilian Journals Editora eBooks” The document concludes that Passiflora incarnata may help with anxiety, healthcare workers need mental support, common bacteria cause hospital UTIs, telehealth for heart failure needs research, kids' screen time has increased, pregnant teens are mostly okay with their body image, diagnosing post-surgery tuberculosis is hard, older and severely ill people are more likely to have long COVID symptoms, and psychiatrists should be part of pain management teams.
April 2023 in “Clinical Chemistry and Laboratory Medicine” The document concludes that inflammation markers can be used in diabetes, vitamin D3 affects immune pathways, hyperthyroidism changes hormone levels, androgen levels help diagnose Adrenocortical Carcinoma, erectile dysfunction is linked to diabetes, hypogonadism is common in HIV-infected males, and hormones can be biomarkers for various conditions.
January 2023 in “Brazilian Journals Editora eBooks” Passiflora incarnata may help with anxiety but has risks and drug interactions.
There's a genetic link between Fragile X Syndrome and Autism Spectrum Disorder.
6.7% of urine cultures showed hospital-acquired urinary tract infections.
Children used screens more during COVID-19, causing various health complaints.
Autism Spectrum Disorder is often underdiagnosed in females.
Dissociative disorders in childhood sexual abuse victims are more common in males.
Most pregnant teenagers are not dissatisfied with their body image but worry about weight.
Diagnosing tuberculosis after knee surgery is challenging due to non-specific symptoms.
Post-COVID-19 syndrome is more common in older, severely affected patients.
Psychiatrists should be part of pain management teams due to the psychological aspects of pain.
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.
November 2017 in “International journal of research in dermatology” A rare skin disorder, nevus comedonicus, can appear on one side of the body following Blaschko's lines.
The transcription factor Meis2 is essential for touch sensation and proper nerve development in touch receptors.