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Metabolic Causes (metabolic + cause)

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Medical Sciences	100%

Selected Abstracts

Multimodal management of urolithiasis in renal transplantation

BJU INTERNATIONAL, Issue 3 2005
Ben Challacombe
OBJECTIVE To report the largest single series of renal transplant patients (adults and children) with urolithiasis, assess the risk factors associated with urolithiasis in renal transplant recipients, and report the outcome of the multimodal management by endourological and open procedures. PATIENTS AND METHODS The records of all patients undergoing renal transplantation between 1977 and 2003 were reviewed. In all, 2085 patients had a renal transplant at our centre and 21 (17 adults and four children) developed urinary tract calculi. Their mode of presentation, investigations, treatments, complications and outcomes were recorded. Investigations included one or more of the following; ultrasonography (US), plain abdominal X-ray, intravenous urography, nephrostogram and computed tomography. Management of these calculi involved extracorporeal shock wave lithotripsy (ESWL), flexible ureteroscopy and in situ lithotripsy, percutaneous nephrolithotomy (PCNL), open pyelolithotomy and open cystolitholapaxy. RESULTS Thirteen patients had renal calculi, seven had ureteric calculi and one had bladder calculi. The incidence of urolithiasis was 21/2085 (1.01%) in the series. Urolithiasis was incidentally discovered on routine US in six patients, six presented with oliguria or anuria, including one with acute renal failure, four with a painful graft, three with haematuria, one with sepsis secondary to obstruction and infection and in one, urolithiasis was found after failure to remove a stent. Ten patients (63%) had an identifiable metabolic cause for urolithiasis, two by obstruction, two stent-related, one secondary to infection and in six no cause was identifiable. Thirteen required more than one treatment method; 13 (69%) were treated by ESWL, eight of whom required multiple sessions; eight required ureteric stent insertion before a second procedure and four required a nephrostomy tube to relieve obstruction. Two patients had flexible ureteroscopy and stone extraction, three had a PCNL and one had open cystolithotomy. PCNL failed in one patient who subsequently had successful open pyelolithotomy. All patients were rendered stone-free when different treatments were combined. CONCLUSIONS The incidence of urolithiasis in renal transplant patients is low. There is a high incidence of metabolic causes and therefore renal transplant patients with urolithiasis should undergo comprehensive metabolic screening. Management of these patients requires a multidisciplinary approach by renal physicians, transplant surgeons and urologists. [source]

Aetiologic and clinical characteristics of syncope in Chinese children

ACTA PAEDIATRICA, Issue 10 2007
Li Chen
Abstract Aim: This study aimed to improve diagnostic efficacy of syncope in children by analyzing the aetiology and clinical characteristics of syncope in Chinese children. Methods: We retrospectively analyzed the causes of syncope and diagnostic workup in 154 consecutive children seen in the Department of Pediatrics, Peking University First Hospital, China, because of a syncope-related event. Results: In all patients with transient loss of consciousness (TLOC), there were 136 (88.31%) patients attributing to syncope, and 18 (11.69%) belonging to nonsyncopal cases. Neurally mediated syncope (NMS) was the most common cause of syncope (99 cases; 64.3%), with cardiac causes ranking second (10 cases; 6.5%). Other nonsyncopal causes included psychiatric problems and neurological and metabolic disorders. In 25 cases (16.2%), the cause was uncertain. Cases of NMS often had clear inducement of syncope and prodromes. Children with cardiac syncope often had a history of cardiac disease, were often younger than those with NMS, and showed exercise-related syncope, syncope spells in any body position or at an early age, or sudden death in family members but no prodromes. Neurological disorder was suspected in cases of TLOC with seizures, TLOC spells in any position, postictal phase of disorientation or abnormal neurological signs. A metabolic cause is suspected with a history of metabolic disease, prolonged anger, or violent vomiting and diarrhoea. Children with psychiatric disorders were adolescent girls, with prolonged TLOC spells, who had more frequent TLOC. Although many tests were used in diagnosis, most were not goal directed. Now, electrocardiography is recommended in almost all children with syncope. Neurological testing, including electroencephalography and computed tomography were rarely helpful unless with evidence of neurological signs and symptoms. Head-up tilt test (HUTT) was most useful in children with recurrent syncope in whom heart disease was not suspected. Conclusion: NMS was the most common cause of syncope. We recommended HUTT as the important basis of the TLOC workup. [source]

Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005,2009

EPILEPSIA, Issue 4 2010
Anne T. Berg
Summary The International League Against Epilepsy (ILAE) Commission on Classification and Terminology has revised concepts, terminology, and approaches for classifying seizures and forms of epilepsy. Generalized and focal are redefined for seizures as occurring in and rapidly engaging bilaterally distributed networks (generalized) and within networks limited to one hemisphere and either discretely localized or more widely distributed (focal). Classification of generalized seizures is simplified. No natural classification for focal seizures exists; focal seizures should be described according to their manifestations (e.g., dyscognitive, focal motor). The concepts of generalized and focal do not apply to electroclinical syndromes. Genetic, structural,metabolic, and unknown represent modified concepts to replace idiopathic, symptomatic, and cryptogenic. Not all epilepsies are recognized as electroclinical syndromes. Organization of forms of epilepsy is first by specificity: electroclinical syndromes, nonsyndromic epilepsies with structural,metabolic causes, and epilepsies of unknown cause. Further organization within these divisions can be accomplished in a flexible manner depending on purpose. Natural classes (e.g., specific underlying cause, age at onset, associated seizure type), or pragmatic groupings (e.g., epileptic encephalopathies, self-limited electroclinical syndromes) may serve as the basis for organizing knowledge about recognized forms of epilepsy and facilitate identification of new forms. [source]

Sickle liver disease,An unusual presentation in a compound heterozygote for HbS and a novel ,-thalassemia mutation

AMERICAN JOURNAL OF HEMATOLOGY, Issue 9 2007
Timothy J.S. Cross
A 38-year-old Ghanaian man presented with a 6-month history of worsening pruritus, jaundice, and ascites. He was previously fit and well and rarely drank alcohol. Screening tests for chronic liver disease including viral, autoimmune, and other metabolic causes including iron overload were unremarkable. A liver biopsy performed at the referring hospital demonstrated intralobular cholestasis and cirrhosis. He was listed for liver transplantation but subsequently developed sepsis with multiple organ failure and died. The sickle solubility test was positive. Blood smear showed cells consistent with liver failure and no sickle cells. Hemoglobin electrophoresis revealed HbA2 2.8%, HbF 0.5%, and HbS greater than HbA (49.6% vs. 41.3%) in the absence of blood transfusion. Sequence analysis of the ,IVS2-844 C , A). A diagnosis of sickle hepatopathy causing decompensated cirrhosis was made. This case is unusual insomuch as this patient was asymptomatic for over 35 years and represents a novel presentation of sickle cell disease. Sickle cell disease should be considered in appropriate patients when unusual presentations of liver disease arise. Am. J. Hematol., 2007. © 2007 Wiley-Liss, Inc. [source]