July 2017 in “ORTHOPAEDICS TRAUMATOLOGY and PROSTHETICS” Managing rare genetic diseases like osteogenesis imperfecta and Escobar syndrome is complex and requires both medical and surgical treatments.
February 2022 in “Authorea (Authorea)” PAON shows skin patterns due to genetic mosaicism.
January 2025 in “Epsilon Archive for Student Projects (University of Southampton)” Mange and orf are present in some goat herds in Zambia, but more research is needed.
8 citations
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November 2009 in “The Neurologist/The neurologist” If someone has scaly skin, muscle stiffness, and intellectual disability, doctors should consider Sjogren-Larsson Syndrome, but other conditions if more symptoms are present.
April 2017 in “Journal of Investigative Dermatology” A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
1 citations
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June 2017 in “Veterinary dermatology” A cross-bred lamb with severe skin and movement issues had ichthyosis fetalis but normal vitamin A levels.
December 2024 in “Indian Journal of Veterinary Public Health” Argentine-cross polo ponies commonly develop sarcoid tumors with distinct types and histopathological features.
20 citations
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June 2012 in “Human Reproduction” Women with polycystic ovarian syndrome are more likely to have cervical insufficiency, especially South Asian and Black women.
29 citations
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June 2010 in “The Journal of Dermatology” Infants with severe KID syndrome may be more prone to serious infections and need close monitoring.
53 citations
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September 2014 in “Reproductive Biology and Endocrinology” Different types of PCOS have different levels of metabolic problems, with the most severe type showing the highest disturbances.
A man with a rare lung-focused form of hypereosinophilic syndrome improved with steroid treatment.
20 citations
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May 2000 in “Journal of The American Academy of Dermatology” Orf infections can happen during the Muslim event 'Aid el Kebir' due to close contact with sheep.
62 citations
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July 2013 in “American Journal of Clinical Dermatology” Alopecia areata patients have higher oxidative stress and lower antioxidant levels.
September 2012 in “Annals of saudi medicine/Annals of Saudi medicine” The twins' condition is unique and doesn't match any known syndromes.
November 2024 in “NeoReviews” Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
December 2022 in “International Journal of Current Science Research and Review” Polycystic Ovary Syndrome (PCOS) is a common but often undiagnosed disorder in women that can cause irregular periods, infertility, and other symptoms, and can be managed with lifestyle changes, medication, and sometimes surgery.
August 2022 in “Journal of Education Health and Sport” PCOS is common, affects hormones, and often diagnosed late, impacting women's quality of life.
13 citations
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October 2024 in “Scientific Reports” Early diagnosis and personalized treatment for PCOS are crucial, especially for young women in West Bengal, India.
June 2014 in “The Journal of Dermatology” A patient with a rare chromosome condition also had a rare type of hair loss.
October 2022 in “Aesthetic Cosmetology and Medicine” PCOS often causes skin problems due to hormonal and metabolic imbalances.
43 citations
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April 2010 in “Clinical genetics” Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.
August 2020 in “Egyptian Veterinary Medical Society of Parasitology Journal (EVMSPJ)” 10.5% of sheep in Ismailia, Egypt, had Sarcoptes scabiei, causing skin issues.
July 2023 in “Journal of Controversies in Obstetrics & Gynecology and Pediatrics” Polycystic ovary syndrome is a common hormonal disorder in women that affects health and fertility.
37 citations
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October 2024 in “JAMA Network Open” PCOS is common among Indian women, often with metabolic issues, needing better management strategies.
51 citations
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November 2011 in “Reproductive Biology and Endocrinology” About 13% of women had idiopathic hirsutism and 8.5% had polycystic ovary syndrome in a group of Iranian women.
7 citations
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March 2012 in “European Journal of Pediatrics” A boy with a rare skin condition and kidney disease improved with cyclosporine after steroids failed, suggesting a new treatment approach.
12 citations
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June 2016 in “Clinical and experimental dermatology” A new genetic mutation in the TRPV3 gene causes Olmsted-like syndrome in a Mongolian family.
June 2020 in “Journal of genetic medicine” The document's conclusion cannot be provided because the document is not accessible or understandable.
PCOS phenotypes A and B are more common and linked to higher health risks in women from the Ecuadorian Andes.
6 citations
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March 2024 in “Journal of Clinical Laboratory Analysis” Certain genetic variations in IGF2BP2 and IGFBP3 are linked to a higher risk of PCOS.