H.pylori is easily cultured from vomitus and gastroesophageal refluxate and is less easily cultured from stool. One of the most distinctive features of H.pylori is the genetic diversity between clinical isolates obtained from different patient populations. Most H. polyri isolates can be discriminated from others by DNA profiling or sequencing of corresponding genes due to mainly a high degree of sequence divergence between orthologs (3-5%).H.Pylori infestation is followed by continuous gastric inflammation in virtually all individuals. Worldwide, H.pylori-induced gastritis
Chapter 1 INTRODUCTION A. BACKGROUND OF THE STUDY Chromosomal abnormalities which frequently cause physical and cognitive abnormalities for a child throughout life are usually evident at birth. Nondisjunction, deletion translocation, mosaicism, and isochrosome abnormalities are some of the various forms of chromosomal abnormalities (Hatfield, 2008). Nondisjunction is the most common type of chromosomal abnormalities which occur through uneven chromosomal division. During cell division of the cells reproduction, the 46 chromosomes should be divided into half having 23 chromosomes in each new cell. With the new cell having an extra or lacking chromosome, nondisjunction abnormalities occur.
Near total replacement of the pancreas with cysts in a patient with Von Hippel Lindau Disease Abstract: Von Hippel Lindau (VHL) disease can affect various organ systems of the body and is associated with tumors and visceral cysts. Lesions of the pancreas are fairly common leading to the occurrence of simple cysts, serous cystadenoma or solid tumors. We present a rare case of a 35 year old woman previously diagnosed with VHL disease whose pancreas on endoscopic ultrasound was found to be replaced by cysts of varying sizes with normal pancreatic tissues and duct not being identified. Introduction VHL is an autosomal dominant genetic disorder with a birth incidence prevalence of about 1 in 36,000 live births.(1)
The collective results of a variety of tests are usually conclusive (Ignataviscius & Workman, 2013, p. 979).” • Abnormal cerebrospinal fluid (CSF) findings include, an elevated protein level and a slight increase in white blood cell count. • CSF electrophoresis reveals an increase in the myelin basic protein and the presence of increased immunoglobulin’s, especially IgG, which IgG bands are seen in most MS patient’s. • CT Scan to show an increased density in white matter and MS plagues. • MRI shows the presence of plaques .
Children born with thalassemia major are normal at birth, but develop severe anemia during the first year of life. Other symptoms can include: Bone deformities in the face, fatigue, growth failure, shortness of breath and yellow skin (jaundice).Severe thalassemia can cause early death (between ages 20 & 30 years)
It is a genetic disorder that is inherited from both parents who are carriers of the disease. It is characterized by anaemia with small and pale red blood cells (hypochromic microcytic anaemia) due to reduced production of one or more globin chains in the red blood cells. The consequences are ruptured of red blood cells in the spleen (Fucharoen, 1987; Weatherall, 1997). The clinical severity of thalassemia varies greatly depending on the number of genes affected (Cornelis, 2010). Approximately 7.0% of the world’s population is thalassaemia carrier and an estimated 300,000 babies are born each year with this disorder.
According to the CDC, “approximately half of the babies less than one year old who get pertussis need treatment in the hospital” (Fast Facts). The pertussis vaccine, discovered in 1906 was developed by Bordet and Gengou. It is a common virus that is more well known for affecting babies. The virus also known as “Whooping Cough” for the sound the host makes while trying to catch their breath.
The chromosome analysis after ultrasonography is associated with chromosome abnormalities, karyotyping of either amniotic fluid cells or fetal blood cells obtained by cordocenetsis may be performed after ultrasonographic detection of an abnormality. The mostly chromosome abnormalities have been found because of cystic hygroma, limb abnormalities, omphalocele, duodenal stenosis, hydrocephalus and malformations of the face. (thompson, 1986) 3.2.Biochemical Assays for Metabolic Diseases: More than 100 metabolic disorders can be diagnosed prenatally in chorionic villus tissue or cultured amniotic fluid cells, and a few rare conditions can even be identified directly by assay of a substances in amniotic fluid. The metabolic disorders diagnosed by enzyme assay in chorionic villi or cultured amniotic fluid
First of them is hematogenious spreading and the other one is directly planting which is more commonly seen at genitourinary tumors(3). According to 25 yeared clinicopathological study of Lam KY et al; most common primary tumors metastas to spleen: breast (22.9%), lung (20.2%), colon and rectum (9.4%), ovary (9%), stomach (6.9%) and skin (esp. malignant melanoma-5%). According to same study metastasis from liver cancers are 2.8%(16). İn our case malignancies can metastate to spleen were excluded.
SUMMARY A 64 year old male who presented with bleeding per rectum and altered bowel habits of 6 month duration was found to have numerous polyps in the colon with colonoscopy. He also had two osteomas on the forehead and several epidermal cysts in the scrotal skin. His brother had a history suggestive of a similar disease. The patient underwent total proctocolectomy and ileal pouch – anal anastomosis.
The CDC report from 2003-2005 indicated a total of 64,382 cases of Lyme disease from 46 states, with 93% of cases reported in Connecticut, Delaware, Maryland, Massachusetts, Minnesota, New Jersey, New York, Pennsylvania, Rhode Island, and Wisconsin. The median age of patients in reported cases was 41 years, with ages ranging from 0 to 90 years. Men and women were equally represented in reported cases. The CDC identified participation in outdoor activities as a risk factor for infection, and provides educational materials for members of the public to download that provides procedures to reduce the risk of
CF is an autosomal recessive trait and the gene mutation is located on chromosome #7. There are several different mutations of this gene that could result in cystic fibrosis. The most common mutation is the absence of three base pairs in the DNA sequence, which is 250,000 nucleotides
As of 2013, the number of people with MS was estimated to be over 2.3 million worldwide. ( atlas 2013) Most of the non-traumatic disabilities in young adults are caused by MS . It is considered that an interaction of genetic factors, environmental predisposition, and abnormal immune responses can be the chief causes of MS, But the exact etiology of MS is still in question . MS has been greatly studied within the recent years, but a great number of clinical challenges still remain in regard to diagnosis, prognosis, and treatment.
Often dubbed, “hemophilia C,” a hereditary Factor XI deficiency that interferes with thrombin production and affects both sexes has an average occurrence rate of 1:100,000 and usually only affects those with serious injuries or surgeries (Pemberton 81). An acquired form of hemophilia (AH) also exists - the presence of autoantibodies (antibodies that target internal tissue) against FVIII occurs once per roughly every 1.5 million (Lebegue 312). Approximately 50% of cases are idiopathic, and the disease carries a mortality between 8-22% (Ibid.). It is treated using bypassing factors, which target the antibody or inhibitor, and long-term treatment with immunosuppressive steroids like prednisone and cyclophosphamide - treatments also more commonly used to treat rejection of FFP or recombinant clotting
The median age was 50 years (range: 18–89years). All had pathological confirmation of the diagnosis. The male to female ratio was 1:1.2. Nonfunctional pituitary adenomas represented 60% (109/183) of the tumors. Median follow-up was 36 months (range: 1week - 78 months).