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Recommendations for Wilson disease: 1. WD should be considered in any individual between the ages of 3 and 55 years with liver abnormalities of uncertain cause. Age alone should not be the basis for eliminating a diagnosis of WD (Class I, Level B). 2. WD must be excluded in any patient with unexplained liver disease along with neurological or neuropsychiatric disorder (Class I, Level B). 3. In a patient in whom WD is suspected, Kayser-Fleischer rings should be sought by slit-lamp examination by a skilled examiner. The absence of Kayser-Fleischer rings does not exclude the diagnosis of WD, even in patients with predominantly neurological disease (Class I, Level B). 4. An extremely low serum ceruloplasmin level (<50 mg/L or <5 mg/dL) should be taken as strong evidence for the diagnosis of WD. Modestly subnormal levels suggest further evaluation is necessary. Serum ceruloplasmin within the normal range does not exclude the diagnosis (Class I, Level B). 5. Basal 24-hour urinary excretion of copper should be obtained in all patients in whom the diagnosis of WD is being considered. The amount of copper excreted in the 24-hour period is typically >100 _g (1.6_mol) in symptomatic patients, but finding >40 _g (>0.6 _mol or >600 nmol) may indicate WD and requires further investigation (Class I, Level B). 6. Penicillamine challenge studies may be performed for the purpose of obtaining further evidence for the diagnosis of WD in symptomatic children if basal urinary copper excretion is <100 _g/24 hours (1.6_mol/24 hours). Values for the penicillamine challenge test of >1600_g copper/24 hours (>25_mol/24 hours) following the administration of 500 mg of D-penicillamine at the beginning and again 12 hours later during the 24-hour urine collection are found in patients with Wilson disease. The predictive value of this test in adults is unknown (Class I, Level B). 7. Hepatic parenchymal copper content >250 _g/g dry weight provides critical diagnostic information and should be obtained in cases where the diagnosis is not straightforward and in younger patients. In untreated patients, normal hepatic copper content (<40-50 _g/g dry weight) almost always excludes a diagnosis of WD. Further diagnostic testing is indicated for patients with intermediate copper concentrations (70-250 _g/g dry weight) especially if there is active liver disease or other symptoms of WD (Class I, Level B). 8. Neurologic evaluation and radiologic imaging of the brain, preferably by MR imaging, should be considered prior to treatment in all patients with neurologic WD and should be part of the evaluation of any patient presenting with neurological symptoms consistent with WD (Class I, Level C). 9. Mutation analysis by whole-gene sequencing is possible and should be performed on individuals in whom the diagnosis is difficult to establish by clinical and biochemical testing. Haplotype analysis or specific testing for known mutations can be used for family screening of first-degree relatives of patients with WD. A clinical geneticist may be required to interpret the results (Class I, Level B). 10. Patients in the pediatric age bracket who present a clinical picture of autoimmune hepatitis should be investigated for WD (Class I, Level B). 11. Adult patients with atypical autoimmune hepatitis or who respond poorly to standard corticosteroid therapy should also be investigated for WD (Class I, Level C). 12. WD should be considered in the differential diagnosis of patients presenting with nonalcoholic fatty liver disease or have pathologic findings of nonalcoholic steatohepatitis (Class IIb, Level C). 13. WD should be suspected in any patient presenting with acute hepatic failure with Coombs-negative intravascular hemolysis, modest elevations in serum aminotransferases, or low serum alkaline phosphatase and ratio of alkaline phosphatase to bilirubin of <2 (Class I, Level B). 14. First-degree relatives of any patient newly diagnosed with WD must be screened for WD (Class I, Level A). 15. Initial treatment for symptomatic patients should include a chelating agent (D-penicillamine or trientine). Trientine may be better tolerated (Class I, Level B). 16. Patients should avoid intake of foods and water with high concentrations of copper, especially during the first year of treatment (Class I, Level C). 17. Treatment of presymptomatic patients or those on maintenance therapy can be accomplished with a chelating agent or with zinc. Trientine may be better tolerated (Class I, Level B). 18. Patients with acute liver failure due to WD should be referred for and treated with liver transplantation immediately (Class I, Level B). 19. Patients with decompensated cirrhosis unresponsive to chelation treatment should be evaluated promptly for liver transplantation (Class I, Level B). 20. Treatment for WD should be continued during pregnancy, but dosage reduction is advisable for Dpenicillamine and trientine (Class I, Level C). 21. Treatment is lifelong and should not be discontinued, unless a liver transplant has been performed (Class I, Level B). 22. For routine monitoring, serum copper and ceruloplasmin, liver biochemistries and international normalized ratio, complete blood count and urinalysis (especially for those on chelation therapy), and physical examination should be performed regularly, at least twice annually. Patients receiving chelation therapy require a complete blood count and urinalysis regularly, no matter how long they have been on treatment (Class I, Level C). 23. The 24-hour urinary excretion of copper while on medication should be measured yearly, or more frequently if there are questions on compliance or if dosage of medications is adjusted. The estimated serum non–ceruloplasmin bound copper may be elevated in situations of nonadherence and extremely low in situations of overtreatment (Class I, Level C).
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What is Nonalcoholic Fatty Liver Disease (NAFLD)? In healthy individuals, the liver contains little or no fat. In overweight or obese people, gradual fat accumulation leads to significant liver disease. Interestingly, these individuals may be consuming minimal to no alcohol. So, alcohol, which is the main cause for liver damage, does not have a significant role to play.The non-alcoholic fatty liver disease (NAFLD) has 4 significant stages as outlined below. It is a chronically progressive disease and may take years to reach the final stages of cirrhosis and fibrosis.1. Simple fatty liver (steatosis): This is usually identified when diagnostic tests are done for some other suspected conditions. There are usually no symptoms obvious in this stage, other than the buildup of fat in the liver.2. Non-alcoholic steatohepatitis (NASH): The second stage where the liver is inflamed to a greater extent due to fat accumulation.3. Fibrosis: The next degree of inflammation where blood vessels may be narrowed leading to scarring in the liver with impaired liver functions.4. Cirrhosis: This is the most severe stage that occurs due to years of cumulative inflammation. The liver shrinks in size, is scarred, and liver functions are markedly impaired and can also result in liver cancer.Risk factors for NAFLD: The exact reason why a person develops NAFLD is not established, but some of the risk factors include1. Obesity, with more weight concentrated around the abdomen2. Type 2 diabetes3. High blood pressure4. High cholesterol levels5. Age greater than 506. SmokingSymptoms: This will depend on the stage in which it is identified. While there are no symptoms in the early stages, in some people there could be a dull, aching below the ribs, unexplained weight loss, weakness, and extreme tiredness. As it progresses to cirrhosis, there could be jaundice, fluid accumulation in the abdomen and feet, and itching of the skin.Management: While there is no treatment aimed at curing the disease per se, there are ways to manage the symptoms, as noted below.1. Weight loss: Reducing excess accumulated fat will help reverse symptoms and prevent further progression of the disease. A BMI of 18 to 26 is considered optimal.2. Dietary changes: Modify your diet to a carbohydrates and protein rich and reduced fats and sugars. Increasing fiber through fruits and vegetables is highly recommended.3. Exercise: Whatever your choice of workout, it will do wonders for NAFLD. Keep a target of an hour or two of moderate to intense exercise per day to reduce weight.4. Smoking: This is another risk factor and can also help prevent other effects of NAFLD such as diabetes and heart disease.NAFLD is highly controllable with these changes and other damages can be reversed too. If you wish to discuss about any specific problem, you can consult a gastroenterologist.
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Fortis Escorts Hospital, Jaipur have installed New Endoscopy System EVIS EXERA III CV190 with GIF HQ190, CF-HQ190 L and TJF150E (Olympus Make, Manufactured in Japan) for better clinical outcome. Better, Early and Pain Free Diagnose Key features of EVIS EXERA III CV 190 Olympus endoscopic system are: - • Loaded with Advance technologies for better and early diagnose, the new Endoscopy system raises the bar for routine Endoscopy. • Brighter, More Powerful Imaging – Narrow band imaging (NBI) now delivers significantly increased brightness providing twice the viewable distance compared to earlier scope models. It increases the sharpness and clarity of still images captures and improved signal processing significantly reduced levels of halation and noise.

 • Optimal Depth of field at the touch of the button – It allows the User to select between two focus setting to achieve the desired depth of field for optimal observation. With dual focus, Olympus is helping to revolutionise routine endoscopy. • Minimizes the Efforts and time for the Procedure – A new waterproof connector design minimizes the efforts and time required for set up prior to and in between cases. An integrated Water Jet channel not only allow operator to identify the bleeding source during haemostasis but is also helpful during complex therapeutic procedures, by ensuring always a clear view of the endoscopic site.

 • Minimize the pain and discomfort of the patient – The setup, technology and fast performance of the system minimizes the discomfort and Pain in patients. Unique Responsive insertion technology to facilitate complete colonoscopies by improving scope handling, ese of insertion and ergonomics.
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How to Evaluate and Treat Dyspepsia?For a healthy body, proper digestion and absorption of food is very important. The digestion is an extremely intricate process and involves many organs. Impairment in any of the organs can hamper the digestive process, leading to a very common condition called dyspepsia. It is caused by malfunction of one of the muscular organs along the digestive tract including esophagus, stomach, small and large intestines and colon.Causes: While dyspepsia is more a symptom, there are various reasons that lead to it including gastritis, peptic ulcer disease, infections, motility disorders, gastroesophageal reflux disease (GERD), cancers of the digestive tract or any other abnormality in the digestive tract.Evaluation: When a patient has chronic dyspepsia or indigestion, the first thing to do is a thorough evaluation to find out the underlying cause. As noted above, there are functional and nonfunctional causes leading to dyspepsia. While gastric ulcers or polyps are visible during an endoscopy, conditions like gastritis and malignancy can only be diagnosed under microscopic examinations.Some of the tests that are used for evaluation of the cause of dyspepsia include:1. X-ray: Any growth would be visible on an x-ray and further testing can then be done to confirm the exact nature of it.2. Endoscopy: This will allow the doctor to see the actual digestive tract and identify any structural abnormalities or growth.3. Colonoscopy: If the problem is suspected to be in the lower gastrointestinal tract, then a colonoscopy may be in indicated.4. Gastric emptying study: This study can also reveal the abnormalities in the digestive tract5. Culture: Dyspepsia caused by Helicobacter pylori can be diagnosed through cultures of the stomach contents.Treatment: The treatment of dyspepsia is quite complicated and cannot be clearly outlined given the various conditions that it is associated with. Even specific foods can induce indigestion in some people. Therefore, a multipronged approach is required to treat dyspepsia.Education: The affected person should be educated about the non-life-threatening nature of the problem and its chronicity. Some of the drugs used in treatment include:1. Proton pump inhibitors: These reduce the amount of acid produced in the stomach and thereby help in relieving symptoms.2. Promotility drugs: They improve the movement of the muscles in the intestinal tract and are so used in managing dyspepsia.3. Antibiotics: If an infection is suspected, antibiotics are effective.4. Smooth muscle relaxants: Drugs like hyoscyamine and methscopolamine have been shown to provide relief in some patients.5. Psychotropic drugs: Anxiety and depression are frequently seen in people with dyspepsia, and managing these can help reduce the dyspepsia.As noted, the causes, symptoms, and management are very specific to individuals and needs to be managed by the doctor.
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COLON / RECTAL CANCEROVERVIEWColon cancer is cancer of the large intestine while rectal cancers occur in the last part of the colon. The two are combined and known as colorectal cancers and often begin as non-cancerous tissues known as polyps. The polyps over a period of time grow into cancerous cells. Polyps themselves do not have any symptoms but with their metamorphosis into cancerous cells they begin to exhibit certain evident symptoms.Regular check-up to identify the presence of polyps and their removal is suggested to ensure that the risk of colon cancer is lowered. Colorectal Cancer is caused by the genetic mutation of cells turning them from normal to abnormal cells in the colon. The exact cause of the mutation is yet unascertained.Adhering to a healthy lifestyle and staying away from smoking, drinking & drug abuse helps decrease the risk of cancer. Including fibers in diet and following a healthy fitness regime is also helpful.SYMPTOMSThe common symptoms of Colorectal Cancer can be enumerated as the following• Rectal bleeding or blood in stools• Frequent diarrhea or constipation• Abdominal discomfort - gas, cramps etc., • Unexplained weight loss• Excessive & frequent fatigueCAUSES & RISK FACTORSColorectal Cancer is caused by the genetic mutation of cells turning them from normal to abnormal cells in the colon. The exact cause of the mutation is yet unascertained. A low-fiber, high-fat diet also increases the risk of colorectal cancer as does type-2 diabetes, sedentary lifestyle and excessive smoking and drinking.DiagnosisStool testColonoscopy (painless)Sigmoidoscopy
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