Hereditary disease and its control.
نویسنده
چکیده
Waren Tay was born in 1843; he qualified in medicine at the London Hospital and was appointed to it as a surgeon. He was also on the staff of the Royal London Ophthalmic Hospital at Moorfields and City Road, and the North East Hospital for Children, which became Queen Elizabeth Hospital, Hackney Road. A versatile man, he was also dermatologist to the Hospital for Diseases of the Skin. In 1881 he reported his findings in the eyes of a 1-year-old child with severe muscular weakness. Six years later, in 1887, Bernard Sachs gave a detailed clinical and pathological account of the disease and gave the name "cherry red spot" to the macular changes. He recognized that the condition was hereditary and occurred in Jewish babies and called it amaurotic family idiocy. He was born in Baltimore in 1858 to German immigrant parents and after studying at Harvard and Strasburg he became a leading neurologist in New York, and in 1905 wrote the first American book on paediatric neurology. He lived on into the penicillin era and died in 1944. Tay-Sachs disease is characteristically commoner among
منابع مشابه
مقایسه هورمون ملاتونین سرم افراد سالم و مبتلایان به میگرن
Background: Migraine is a chronic hereditary and relapsing headache. With regard to the prevalence of this ancient disease and its economic complications in country, in this study , nocturnal serum melatonin of migraine patients and control subjects have been evaluated and compared by ELISA kit. Materials and Methods: Fifty migraine patients (mostly women) were compared to a control group (mos...
متن کاملHereditary sensory and autonomic neuropathy: A case report
A 24-year old female patient with the history of pressure ulcers in distal extremities resulted in severe deformity will be reported. Her disease started when she was 9 years old and a similar history was found in her brother. In physical examination, pain and temperature sensations were impaired in distal extremities. Nerve conduction velocity showed impaired sensory and normal motor responses...
متن کاملHereditary Nonpolyposis Colorectal Cancer (HNPCC)/Lynch Syndrome: Surveillance and Diagnostic strategies
Introduction: Hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) is an autosomal dominant genetic disease. The disease is caused by a mutation in one of four genes of the DNA mismatch repair system and increases the risk for various cancers, especially the uterine and colon cancers. The prevalence of this disease in the general population is about 1 in 500 and it causes about 2-3...
متن کاملGenes, Hereditary Diseases and Their Transmission - A Summary of Genetic Disease Early Detection Methods
In this article the major genetic disorders and the modes of their transmission is discussed. We have also briefly mentioned the modalities by which many of the genetic diseases can be detected before birth. The genetic counselling is helpful in many ways in order to advise the parents for keeping the fetus or terminating the pregnancy. The physician can reduce the anxiety of the parents, but t...
متن کاملA review of retinoblastoma disease
Retinoblastoma is a rare type of eye cancer that usually occurs in early childhood, usually before the age of five. This type of cancer occurs in the retina, the light-sensitive tissue behind the eye that recognizes light and color. It is the most common type of eye cancer in children. One-third of all retinoblastomas are inherited, meaning that mutations in the RB1 gene are present in all cell...
متن کاملP 70: Primary Progressive MS and Affecting Genes
Multiple sclerosis is a CNS autoimmune disease configured by demyelination, inflammation, and degeneration of axons. This disease inflict great harms to patients. The most common problem is inability to control musculoskeletal system and decrease in mobility. These consequences could vary from patients to patients. About 10-15% of all MS patients develop primary progressive MS (PPMS). Despite t...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- British medical journal
دوره 3 5976 شماره
صفحات -
تاریخ انتشار 1975