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Anemia due to Adenosine Triphosphatase Deficiency

Anemia due to ATPase Deficiency


Presentation

  • Leading experts from Latin America, Africa, Near and Middle East, Indian Subcontinent, Far East, Oceania and Australia present their expert insights into specific conditions, as well as progress and challenges in the development of the specialty.[books.google.com]
  • The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • […] hexokinase [ hek″so-ki nās ] an enzyme that catalyzes the transfer of a high-energy phosphate group of a donor to d -glucose, producing d -glucose-6-phosphate. hex·o·ki·nase ( heks'ō-kī'nās ), A phosphotransferase present in yeast, muscle, brain, and[medical-dictionary.thefreedictionary.com]
Generalized Lymphadenopathy
  • Persistent generalized lymphadenopathy' Group IV. Other disease Subgroup A Constitutional disease Subgroup B. Neurologic disease Subgroup C. Secondary infectious diseases Category C-1. ‏[books.google.com]
Anemia
  • Title Other Names: Adenosine triphosphatase deficiency anemia Categories: This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person.[rarediseases.info.nih.gov]
  • […] born in Cape Town on March 17, 1932 and graduated high school from the South African College and obtained his MB ChB degree from the University of Cape Town School of Medicine in 1954 and his Doctorate degree in 1959 for his thesis on Iron Deficiency Anemia[books.google.com]
  • Homepage Rare diseases Search Search for a rare disease OBSOLETE: Anemia due to adenosine triphosphatase deficiency ORPHA:1044 Synonym(s): - Prevalence: - Inheritance: - Age of onset: - ICD-10: - OMIM: - UMLS: - MeSH: - GARD: - MedDRA: - Summary An Orphanet[orpha.net]
  • In that paper, nutritional anemia was considered to be a large component of global anemia prevalence, and iron deficiency was considered the most common cause of nutritional anemia.[jn.nutrition.org]
Physician
  • In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers.[rarediseases.info.nih.gov]
  • *Medscape Business of Medicine Academy Survey, September 2015 Learn from Experienced Professionals Courses were developed especially for physicians by business health experts and experienced physicians.[medscape.org]
  • Fatigue is a common symptom reported by up to 20 per cent of patients seeking care from primary care physicians in the US. 1 According to Melvin R.[newhope.com]
  • American Family Physician [On-line journal]. Available online at . Parham, Sue (2005 March). In right setting, POC testing can be kid stuff. College of American Pathologists, CAP Today [On-line journal]. Available online at . ( 2005).[labtestsonline.it]
  • To date, no prospective trials have been performed to definitely demonstrate that the use of EPO has a positive impact on SVR, but EPO is administered in some countries when the hemoglobin level falls below 10 g/dL or by physician criteria. [ 2, 3 ].[translational-medicine.biomedcentral.com]
Pathologist
  • Confidently prepare for the upcoming recertification exams for clinical pathologists set to begin in 2016.[books.google.com]
  • College of American Pathologists, CAP Today [On-line journal]. Available online at . ( 2005). Lactic Acid, Plasma. ARUP's User's Guide [On-line information]. Available online at . (2001 October). Lactic Acid and Biopsy Tests.[labtestsonline.it]
  • Liver biopsies were performed with a 16 gauge Tru-Cut needle (Uro-Cut 16G, TSK, Tokyo, Japan) and read by a single pathologist who was unaware of patient's identity and treatment regimen.[journals.plos.org]
Fishing
  • Fish, MD is Assistant Professor of Pediatrics at the Hofstra Northwell School of Medicine.[books.google.com]
  • Vitamin B1 is found in many foods including cereals, beans, nuts, yeast, meat and fish. Fruits and vegetables doesn't contain high level of thiamine but when they are consumed in large amounts they become an important source.[flipper.diff.org]
  • Fish Tapeworm Infestation The fish tapeworm ( Diphyllobothrium latum ) lives in the small intestine of humans and accumulates cobalamin from food, rendering the cobalamin unavailable for absorption.[clinicalgate.com]
Asymptomatic
  • Asymptomatic infection' Group III. Persistent generalized lymphadenopathy' Group IV. Other disease Subgroup A Constitutional disease Subgroup B. Neurologic disease Subgroup C. Secondary infectious diseases Category C-1. ‏[books.google.com]
  • Homozygotes have somewhat more marked abnormalities but are asymptomatic.[clinicalgate.com]
  • Reversal of iron deficiency anemia after Helicobacter pylori eradication in patients with asymptomatic gastritis. Ann Intern Med 1999; 131: 668-72. [26] Barabino A. Helicobacter pylori -related iron deficiency anemia: a review.[em-consulte.com]
Hypertension
  • Portal hypertension C. Gastric lymphoma D. Esophageal rupture (Boerhaave's syndrome) E. A, B, and C F. All of the above are associated 4. A Mallory-Weiss tear is diagnosed. Which of the following statements is consistent with that... ‏[books.google.com]
  • Hypertension. 2001;38:166 - 170. Brutsaert TD, Hernandez-Cordero S, Rivera J, et al. Iron supplementation improves progressive fatigue resistance during dynamic knee extensor exercise in iron-depleted, nonanemic women.[stjosepheureka.myhospitalwebsite.com]
  • Importance of decreased intracellular phosphate and magnesium concentrations and reduced ATPase activities on spontaneously hypertensive rats. Magnes Res 2000;13:183-8. 27. Carbinyan V, et al.[newhope.com]
  • Serious adverse events included prolonged neutropenia (in two patients), hypertension (in one), central-venous-catheter–related infections (in two), Epstein–Barr virus reactivation (in one), and autoimmune hepatitis (in one).[nejm.org]
Thrombosis
  • Venous thrombosis has been reported to be more frequent in vitamin B 12 –deficient subjects than in controls. This was ascribed to raised plasma homocysteine levels in vitamin B 12 deficiency.[clinicalgate.com]
Ulcer
  • Peptic ulcer disease B. Portal hypertension C. Gastric lymphoma D. Esophageal rupture (Boerhaave's syndrome) E. A, B, and C F. All of the above are associated 4. A Mallory-Weiss tear is diagnosed.[books.google.com]
  • […] particularly viral, and pregnancy • Family history consistent with autosomal recessive inheritance • Frontal bossing • Jaundice • Abdomen—Splenomegaly mild to moderate, upper right quadrant tenderness, Murphy sign positive • Extremities—Chronic leg ulcers[namrata.co]
  • Leg ulcers and premature gallbladder disease due to bilirubin loading are frequent stigmata.[clinicalgate.com]
  • Blood donation, malabsorption, menstruation, peptic ulcers and pregnancy are common causes of iron shortage and subsequent fatigue. 8 Iron overload is the flip side of iron-linked fatigue.[newhope.com]
Stroke
  • […] all the latest approaches in clinical laboratory medicine with new and updated coverage of: the chemical basis for analyte assays and common interferences; lipids and dyslipoproteinemia; markers in the blood for cardiac injury evaluation and related stroke[books.google.com]
  • Protective effect of fruits and vegetables on development of stroke in men. ‎ Página 240 - Intake of vegetables, fruits, betacarotene, vitamin C and vitamin supplements and cancer incidence among the elderly: a prospective study. ‎[books.google.es]
  • J Chromatogr B Analyt Technol Biomed Life Sci. 2005 Aug 5;822(1-2):85-90. [ PubMed:15993662 ] Stroke Czarnecka J, Cieslak M, Michal K: Application of solid phase extraction and high-performance liquid chromatography to qualitative and quantitative analysis[hmdb.ca]
  • . • Ischemic stroke has been reported in previously undiagnosed young adults with pyruvate kinase deficiency. • Multiple-transfusion therapy can cause iron overload. • Blood transfusions expose a person to the risk of contracting certain infections that[namrata.co]
  • […] one study. 22 The daily provision of 200mg Co-Q10 produced universal relief from fatigue and shortness of breath among seven US patients with enlarged hearts. 23 A review of 14 studies conducted between 1984 and 1994 showed that Co-Q10 increased the stroke[newhope.com]
Headache
  • In extreme cases, the hematocrits can rise to 60–65%, increasing blood viscosity and producing typical symptoms (headache, somnolence, or dizziness). Phlebotomy may be required.[clinicalgate.com]

Workup

  • A rational approach to the anemia workup. Patient Care 1996;30:193-7. 9. Moirand R, et al. Clinical features of genetic hemochromatosis in women compared with men. Ann Internal Med 1997;127:105-10. 10. Adams PC, et al.[newhope.com]
Base Deficit
  • What Is the Clinical Utility of Obtaining Serum Lactate and Arterial Base Deficit Values in Patients With Early Signs of Sepsis and Septic Shock? Medscape Today. [On-line information]. Available online at . Accessed March 2011. Filbin, M.[labtestsonline.it]

Treatment

  • Significant updates on bariatric surgery, Barrett's esophagus, endoscopic ultrasound, endosonography, treatment of liver disease, and much more keep you current on the latest advances.[books.google.com]
  • You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.[rarediseases.info.nih.gov]
  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]

Prognosis

  • Prognosis: The prognosis of PKD is highly variable depending on the genotype. Early diagnosis and intervention with treatment of the anemia can be lifesaving in severe cases. Individuals with a mild form of PKD may have few or no symptoms.[wohproject.org]
  • Prognosis • Mild and moderate forms of the disease are associated with an excellent prognosis. • Severe forms of the disease are mostly symptomatic during early childhood.[namrata.co]

Etiology

  • (April 4, 2013) Etiology and therapeutic approach to elevated lactate. Mayo Clinic Proceedings. Available online at . Accessed on 6/5/18. Lactate Information Sheet for Clinicians. Clinical Excellence Commission. Available online at .[labtestsonline.it]
  • The etiological role of chronic iron deficiency in production of menorrhagia. JAMA . 1964;187:323 - 327. Sempos CT, Looker AC, Gillum RE, et al. Serum ferritin and death from all causes and cardiovascular disease: the NHANES II Mortality Study.[stjosepheureka.myhospitalwebsite.com]
  • Metabolome Analysis of Erythrocytes from Patients with Chronic Hepatitis C Reveals the Etiology of Ribavirin-Induced Hemolysis. Int J Med Sci 2013; 10(11):1575-1577. doi:10.7150/ijms.6436.[medsci.org]
  • […] these three recent expert committee statements: 1 ) “Iron deficiency is not the only cause of anemia, but where anemia is prevalent, iron deficiency is usually the most common cause” ( Stoltzfus and Dreyfuss 1998 ). 2 ) “Anemia has a multifactorial etiology[jn.nutrition.org]

Epidemiology

  • Questions 14-17 For each epidemiologic concept listed below, select the term that most appropriately describes it. ‏ الصفحة 172 - Group I. Acute infection Group II. Asymptomatic infection' Group III. Persistent generalized lymphadenopathy' Group IV.[books.google.com]
  • Epidemiological, clinical and virological features did not differ between ITPA deficient and non deficient patients (data not shown). ITPA deficiency and severity of anemia 57 patients (83%) completed the 12 weeks of PR TVR treatment.[journals.plos.org]
Sex distribution
Age distribution

Pathophysiology

  • Brenner/Rector remains the go-to resource for practicing and training nephrologists and internists who wish to master basic science, pathophysiology, and clinical best practices.[books.google.com]
  • Suggests clinical disorders or settings where the test may be helpful Evaluating patients suspected of having pernicious anemia or immune-mediated deficiency of vitamin B12 with or without megaloblastic anemia Clinical Information Discusses physiology, pathophysiology[mayomedicallaboratories.com]
  • Pathophysiology Pyruvate kinase deficiency (PKD) is an erythrocyte enzymopathy involving the Embden-Meyerhof pathway of anaerobic glycolysis.[namrata.co]

Prevention

  • Get optimal test results with guidance on error detection, correction, and prevention as well as cost-effective test selection.[books.google.com]
  • Página 270 - Brown BG, Zhao XQ, Sacco DE, Albers JJ: Lipid lowering and plaque regression: new insights into prevention of plaque disruption and clinical events in coronary disease. ‎[books.google.es]
  • Prevention A good diet and drinking in moderation may help preventing this syndrome. Thiamine supplements are recommended in heavy drinkers.[flipper.diff.org]
  • Guidelines for the Use of Iron Supplements to Prevent and Treat Iron Deficiency Anemia : 1 – 39 ILSI Press Washington DC . UNICEF/UNU/WHO/MI 1999 ( 1999 ) Micronutrient deficiency disorders .[jn.nutrition.org]
  • Our findings suggest that hemolysis associated with ribavirin is triggered by an energy crisis and consequent oxidative stress, thus having implications for the prevention of such hemolysis.[medsci.org]

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