2 citations
,
July 2022 in “Cureus” Recurrent pneumothorax can occur in Sjogren's syndrome, even without common markers.
7 citations
,
September 2013 in “Familial cancer” Birt–Hogg–Dubé syndrome is a rare genetic condition causing skin lesions, lung cysts, and a higher chance of kidney cancer.
1 citations
,
March 2023 in “European Journal of Human Genetics” The UK's EDS National Diagnostic Service found that early diagnosis, lifestyle advice, and regular check-ups are crucial for managing vascular Ehlers-Danlos syndrome. A combination of losartan and bisoprolol can reduce vascular events, improving survival and quality of life.
January 2013 in “Kidney international” A man with kidney tumors and lung cysts was diagnosed with Birt–Hogg–Dubé syndrome and treated successfully, with genetic testing confirming the diagnosis.
7 citations
,
August 2017 in “Genetic testing and molecular biomarkers” A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
99 citations
,
May 2013 in “Familial cancer” People with Birt-Hogg-Dubé syndrome often have lung problems and delayed diagnosis, and better recognition of CT scan signs could improve diagnosis and management.
12 citations
,
March 2013 in “The American journal of dermatopathology/American journal of dermatopathology” Birt–Hogg–Dubé Syndrome requires genetic testing for accurate diagnosis due to its similarities with tuberous sclerosis.
December 2012 in “Expert review of dermatology” New findings suggest the protein linked to Birt–Hogg–Dubé syndrome is important in cell signaling and could affect treatment understanding.
16 citations
,
March 2011 in “Ophthalmic genetics” A patient with Birt-Hogg-Dubé Syndrome also had choroidal melanoma, suggesting the need for careful eyelid exams in such patients.
1 citations
,
June 2019 in “Current developments in nutrition” A patient with Ehlers-Danlos Syndrome improved after treatment for fat malabsorption and essential fatty acid deficiency.
January 2024 in “JCEM case reports” This is the first known case of parathyroid cancer in a patient with Birt Hogg Dube Syndrome.
73 citations
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May 1976 in “JAMA” Long-term parenteral nutrition without zinc can cause severe zinc deficiency.
October 2025 in “International journal of research and scientific innovation” Lupus pneumonitis can be misdiagnosed as pneumonia or tuberculosis, so consider lupus in similar cases for proper treatment.
July 2022 in “International Journal of Health Sciences” COVID-19 survivors may face long-term health issues affecting both mind and body.
December 2021 in “Black sea journal of health science” Valproic acid can cause a rare allergic reaction leading to fluid around the lungs and heart, which is treatable by changing medication.
12 citations
,
May 2001 in “British journal of dermatology/British journal of dermatology, Supplement” A rare benign skin tumor showed unusual features of sebaceous and sweat glands, important for correct diagnosis.
February 2016 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
165 citations
,
September 2001 in “Genes & development” CDP is crucial for lung and hair follicle cell development.
114 citations
,
December 1951 in “Archives of Dermatology” Aminopterin strongly suppresses epithelial tissues and can treat certain skin conditions but has significant side effects.
108 citations
,
October 2009 in “Javma-journal of The American Veterinary Medical Association” Foals with Rhodococcus equi infection often have other health problems that lower their chances of survival.
108 citations
,
October 2004 in “Anesthesiology” Preoperative pain assessment, regional anesthesia, and vitamin C can help prevent CRPS after surgery.
84 citations
,
March 2010 in “Infectious Disease Clinics of North America” The document concludes that rapid identification, isolation, and strict infection control are crucial to manage SARS outbreaks.
72 citations
,
November 2012 in “PloS one” The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
42 citations
,
November 2004 in “Paediatric Respiratory Reviews” Children generally have milder SARS symptoms than adults, with good outcomes and no deaths reported, but long-term effects are unclear.
36 citations
,
October 2016 in “Bone” A male with aromatase deficiency improved bone health with estradiol treatment.
16 citations
,
July 2021 in “Histopathology” New markers and pathways have been found in skin tumors, helping better understand and diagnose them.
16 citations
,
July 2012 in “The New England Journal of Medicine” The patient was diagnosed with anorexia nervosa and severe malnutrition, requiring urgent refeeding and monitoring.
10 citations
,
November 2024 in “Nature Reviews Cardiology” Skin conditions can signal heart issues, highlighting the need for integrated care.
6 citations
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March 2021 in “Cytotechnology” Mesenchymal stem cells show promise in treating COVID-19 by reducing inflammation and aiding recovery, but more research is needed.
3 citations
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June 1983 in “Archives of Dermatology” Aminopterin effectively improves skin conditions but has toxic side effects that need careful monitoring.