This issue of Seminars in Medical Genetics, American Journal of Medical Genetics Part C investigates the human diseases caused by mutations in the BAF complex (also known as the mammalian SWI/SNF complex) genes, particularly focusing on Coffin-Siris syndrome (CSS). CSS is a rare congenital malf...
Giuseppe,Maggiore,and,... - 《Journal of Pediatrics》 被引量: 220发表: 1986年 Glycogen storage diseases: New perspectives Glycogen storage diseases (GSD) are inherited metabolic disorders of glycogen metabolism. Different hormones, including insulin, glucagon, and cortisol reg... H Zen,H DO Gastr...
An analysis devoted to different types of impact on eye structures caused by diseases is also carried out with significant results. The enrollment process is highly sensitive to those eye conditions that make the iris obstructed or introduce geometrical distortions. Disorders affecting iris geometry, ...
GI diseases and disorders can manifest with various signs and symptoms, including changes in appetite, weight gain or loss, dysphagia, intolerance to certain foods, nausea and vomiting, changes in bowel habits, and abdominal pain. Abdominal pain may be chronic or acute and related to inflammation...
Exudate is one of the disorders that occur in the retinal part of eye. Exudate is an earliest and most prevalent symptom of diseases leading to blindness such as diabetic retinopathy and wet macular degeneration. Proposed work is to examine the effect of exudate present on iris and leads to ...
Intravenous Laser Therapy in the Complex Treatment of Nervous System and Brain Diseases and the New Development Mechanism of the Diseases The Importance of the Psychiatric Hospital in Facing the COVID-19 Pandemic - Experience Report Water, Food and Population with a Focus on Developing World: A So...
Comprehensive eye exams can detect eye diseases and disorders such as refractive errors, glaucoma, cataract, retinal problems like retinal detachment, macular degeneration, as well as other systemic health problems such as diabetes and high blood pressure. ...
ischemicretinopathyin various animal models.87An open-label phase I study of AdPEDF.11 in patients with CNV was designed to test both the safety and feasibility of adenoviral gene transfer forretinal diseases.222In the 28 patients administered the gene vector, there were no seriousadverse events,...
Other non-infectious causes include inflammation associated with systemic diseases and predisposing genetic factors, such as HLA antigens and allergic predispositions. Important categories of non-infectious uveitis in humans include sarcoidosis, Behçet's disease, Vogt–Koyanagi–Harada syndrome, and phaco...
and language impairments; (iii) distinctive facial features such as a coarse face, flattened nasal bridge, wide mouth, thick eyebrows, and sparse hair; (iv) atypical symptoms such as excessive back hair, facial hirsutism, growth hormone deficiency, hypothyroidism, and congenital heart diseases (e....