2 citations
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October 2022 in “Frontiers in genetics” Late diagnosis of congenital adrenal hyperplasia can greatly affect physical development, gender identity, and sexual health.
2 citations
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January 2021 in “American Journal of Case Reports” A 13-year-old boy with a rare genetic condition survived a heart attack and improved with treatment.
2 citations
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July 2016 in “Pharmacopsychiatry” A person with Turner Syndrome showed severe schizophrenia that didn't respond to treatment and had brain shrinkage.
2 citations
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July 2013 in “Journal of Life Sciences” A 2-year-old girl with a rare vitamin D disorder had rickets and hair loss, but treatment was ineffective due to poor compliance.
1 citations
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July 2024 in “Indian Journal of Case Reports” GAPO syndrome causes growth issues, hair loss, missing teeth, and vision problems.
October 2024 in “Journal of the Endocrine Society” Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
October 2023 in “Psychiatry research. Case reports” A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
January 2023 in “Indian dermatology online journal” A child with trichothiodystrophy also had autoimmune thyroiditis and anemia, which is a new finding.
January 2011 in “Revista Portuguesa de Endocrinologia Diabetes e Metabolismo” Congenital adrenal hyperplasia may be linked to adrenal myelolipoma.
January 2010 in “The Internet Journal of Family Practice” Hypothyroidism slows metabolism, causing growth and mental issues in children and reversible symptoms in adults, needing early treatment.
13 citations
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May 1996 in “Archives of Disease in Childhood” Siblings with signs of virilization should be tested for non-classical congenital adrenal hyperplasia, which does not affect adult height but may impact fertility and well-being if untreated.
July 2018 in “Kidney international” Genetic testing for EGFR mutations is crucial in similar cases.
1 citations
,
April 2016 in “British Journal of Dermatology” Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.
59 citations
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February 2019 in “BMC Genomics” Hair length in rabbits is linked to differences in lipid metabolism and cell death.
August 2023 in “Medicina-lithuania” Abusing steroids can damage your heart, muscles, reproductive system, liver, skin, and brain, and may increase the risk of Alzheimer's disease.
23 citations
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March 2017 in “JAAD case reports” The document suggests a possible link between FAM111B gene mutations and increased cancer risk, particularly pancreatic cancer.
11 citations
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January 2000 in “Journal of Cutaneous Pathology” Short telomeres contribute to aging and cancer, and while telomerase can delay aging, it may also promote cancer.
December 2022 in “IntechOpen eBooks” Forensic DNA Phenotyping accurately predicts physical traits and is used in investigations, but needs more diverse population data for confirmation.
379 citations
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May 2016 in “Cochrane library” Corticosteroids, especially prednisone, improve short-term muscle strength in Duchenne muscular dystrophy but have manageable side effects.
383 citations
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February 2011 in “Nature Reviews Genetics” DNA profiling in forensics has improved, but predicting physical traits and ancestry from DNA has limitations and requires ethical consideration.
1 citations
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January 2020 in “Skin appendage disorders” A family was found with both Trichorhinophalangeal syndrome and Loose Anagen Syndrome, suggesting a genetic connection.
May 2026 in “International Research Journal of Ayurveda & Yoga” Certain physical traits can lead to health issues and need ongoing management.
March 2018 in “International journal of basic and clinical pharmacology” Carboplatin-paclitaxel is preferred for advanced lung cancer due to its balance of affordability and patient well-being.
13 citations
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June 2006 in “Pituitary” A woman with acromegaloidism and normal growth hormone levels had a rare X-Tetrasomy, suggesting a need to study X-chromosome genes for their role in growth and facial development.
119 citations
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January 2012 in “Nutrition & Metabolism” Modern lifestyles, including poor diet, stress, and long-term use of certain medications, hinder the body's ability to heal from inflammation, leading to chronic diseases.
11 citations
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December 2020 in “Notulae botanicae Horti Agrobotanici Cluj-Napoca” Mycorrhizal fungi and shading improve tea plant growth and nutrient uptake by changing hormone levels and gene expression.
101 citations
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November 1992 in “Archives of Dermatology” Steroids help hair regrowth, and minoxidil slows post-steroid hair loss, but effects are temporary.
May 2026 in “AlQalam Journal of Medical and Applied Sciences” Ferritin levels may not accurately show iron stores in obese individuals.
December 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Different types of inactive melanocyte stem cells exist with unique characteristics and potential to develop into other cells.
The study aims to create a model to improve personalized and preventive health care.