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Metabolic Screening (metabolic + screening)
Selected AbstractsSanfilippo B in an elderly female psychiatric patient: a rare but relevant diagnosis in presenile dementiaACTA PSYCHIATRICA SCANDINAVICA, Issue 2 2010W. M. A. Verhoeven Verhoeven WMA, Csepán R, Marcelis CLM, Lefeber DJ, Egger JIM, Tuinier S. Sanfilippo B in an elderly female psychiatric patient: a rare but relevant diagnosis in presenile dementia. Objective:, Sanfilippo B is a rare autosomal recessive mucopolysaccharidosis (MPS IIIB) caused by a deficiency of N -acetyl-,-D-glucosaminidase (NAGLU). Method:, A mild mentally retarded elderly female patient is described with a slowly progressive dementia who had given birth to a daughter who developed normally. Results:, Metabolic screening revealed an enhanced concentration of heparan sulfate in urine. Enzymatic assay demonstrated deficiency of N -acetyl-,-D-glucosaminidase. Mutations in the NAGLU gene were found. One mentally retarded and hospitalized elder brother was also found to have MPS IIIB, whereas a second brother, who had died earlier, is suspected to have had the same metabolic disorder. Prior to the development of dementia, both the patient and her brother showed autistic like features, signs of ideomotor apraxia and weakness in verbal comprehension. Conclusion:, Screening for metabolic disorders, in particular MPSes, should always be considered in patients with a history of mental deficit and dementia or progressive functional decline. [source] Mass spectrometry in newborn and metabolic screening: historical perspective and future directionsJOURNAL OF MASS SPECTROMETRY (INCORP BIOLOGICAL MASS SPECTROMETRY), Issue 2 2009Donald H. Chace Abstract The growth of mass spectrometry (MS) in clinical chemistry has primarily occurred in two areas: the traditional clinical chemistry areas of toxicology and therapeutic drug monitoring and more recent, human genetics and metabolism, specifically inherited disorders of intermediary metabolism and newborn screening. Capillary gas chromatography and electrospray tandem MS are the two most common applications used to detect metabolic disease in screening, diagnostics and disease monitoring of treated patients. A few drops of blood from several million newborn infants are screened annually throughout the world making this the largest application of MS in medicine. Understanding the technique, how it grew from a few dozen samples per week in the early 1990s to increasing daily volume today will provide important information for new tests that either expand newborn screening or screening in other areas of metabolism and endocrinology. There are numerous challenges to the further expansion of MS in clinical chemistry but also many new opportunities in closely related applications. The model of newborn screening and MS in medicine may be useful in developing other applications that go beyond newborns and inherited metabolic disease. As MS continues to expand in clinical chemistry, it is clear that two features will drive its success. These features are excellent selectivity and multiple analyte or profile analysis; features recognized in the 1950s and remain true today. Copyright © 2008 John Wiley & Sons, Ltd. [source] A Systems Approach for Neonatal Hyperbilirubinemia in Term and Near-Term NewbornsJOURNAL OF OBSTETRIC, GYNECOLOGIC & NEONATAL NURSING, Issue 4 2006Vinod K. Bhutani Objective:, To propose and implement a family-centered systems approach to manage newborn jaundice for safer outcomes. Design:, Observational study for known adverse outcomes. Setting:, Semiprivate urban birthing hospital. Patients/Participants:, 31,059 well babies discharged as healthy from a cohort of 41,961 live births (1990-2000). Interventions:, Incremental implementation of a systems approach that incorporated a hospital policy to (a) authorize nurses to obtain a bilirubin (total serum/transcutaneous) measurement for clinical jaundice, (b) universal predischarge total serum bilirubin (at routine metabolic screening), and (c) targeted follow-up, using the bilirubin nomogram (hour-specific, percentile-based total serum bilirubin/transcutaneous bilirubin). Main Outcome Measures:, Known adverse outcomes assessed for early- and late-onset severe hyperbilirubinemia before, during, and after systems approach implementation. Results:, Adverse outcomes decreased for well babies: exchange transfusion, intensive phototherapy, and readmission. During the study period, there were no "never events" (total serum bilirubin greater than or equal to 30 mg/dl), while "close calls" (total serum bilirubin greater than or equal to 25 mg/dl) were 1 in 15,000 as compared to a reported incidence of 1 in 625. Conclusions:, Reduced adverse events, significant reduction in close calls, and no never events met family expectations for safer experiences with this approach. JOGNN, 35, 444,455; 2006. DOI: 10.1111/J.1552-6909.2006.00044.x [source] Multimodal management of urolithiasis in renal transplantationBJU INTERNATIONAL, Issue 3 2005Ben 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] Childhood stroke in Eastern Province, KSA: pattern, risk factors, diagnosis and outcomeACTA PAEDIATRICA, Issue 10 2009Abdelhady Taha Emam Abstract Background and purpose:, Stroke has been increasingly recognized in children in recent years, but diagnosis and management can be difficult because of the diversity of underlying risk factors, atypical presentation and the absence of a uniform treatment approach. The aim of this study was to examine risk factors, clinical presentation, imaging findings and outcomes of paediatric stroke in Eastern Province, Kingdom of Saudi Arabia (KSA). Subjects and methods:, We evaluated 25 patients (11 boys and 14 girls) using computerized tomography scan of the brain, magnetic resonance (MR) imaging and MR angiography. Cardiac assessment, haematological tests, immunological tests, infection and metabolic screening were also performed in the patients. After discharge, the patients were monitored regularly in the neurology clinic to detect their outcomes. Results:, A total of 76% of the patients presented with ischaemic stroke, while the remaining 24% had haemorrhagic stroke. Sickle cell disease (SCD) was the commonest risk factor for stroke (36%) followed by non determinate causes (20%). Seizure was the commonest clinical presentation (54%) followed by haemiplegia (31%) and decreased level of consciousness (30%). Recurrence occurred in SCD patients (80%) and patients with moyamoya disease (20%). Regarding the outcome, long-term deficit was the commonest (44%), while short-term deficit and death were equal (28% each). Conclusion:, Our study in Eastern Province, KSA, showed agreement with other studies regarding risk factors, clinical presentation, imaging features and outcomes of stroke in children, yet with some points of differences, which are as follows: (1) SCD is the commonest risk factor in our study population, while in Chinese study it was not, (2) The percentage of cardiac disorders as a risk factor in this study was less than that in the European and American studies, and (3) there was relative discrepancy regarding predictors of outcome. [source] Identification of a novel compound heterozygote SCO2 mutation in cytochrome c oxidase deficient fatal infantile cardioencephalomyopathyACTA PAEDIATRICA, Issue 1 2007M Knuf Abstract Fatal infantile cardioencephalomyopathy (OMIM No. 604377) is a disorder of the mitochondrial respiratory chain and is characterised by neonatal progressive muscular hypotonia and cardiomyopathy because of severe Cytochrome c oxidase deficiency. Here we report a novel mutation in the Cytochrome c oxidase assembly gene SCO2 in an infant with fatal infantile cardioencephalomyopathy despite normal initial metabolic screening. Conclusion: In newborns with unexplained muscular hypotonia and cardiomyopathy genetic testing of mitochondrial respiratory chain disorders might be helpful to establish a final diagnosis and guide treatment decisions. [source] Non-progressive congenital ataxia with cerebellar hypoplasia in three familiesACTA PAEDIATRICA, Issue 2 2005Z Yapici Abstract Aim: Non-progressive ataxias with cerebellar hypoplasia are a rarely seen heterogeneous group of hereditary cerebellar ataxias. Method: Three sib pairs from three different families with this entity have been reviewed, and differential diagnosis has been discussed. Results: In two of the families, the parents were consanguineous. Walking was delayed in all the children. Truncal and extremity ataxia were then noticed. Ataxia was severe in one child, moderate in two children, and mild in the remaining three. Neurological examination revealed horizontal, horizonto-rotatory and/or vertical nystagmus, variable degrees of mental retardation, and pyramidal signs besides truncal and extremity ataxia. In all the cases, cerebellar hemisphere and vermis hypoplasia were detected in MRI. During the follow-up period, a gradual clinical improvement was achieved in all the children. Conclusion: Inheritance should be considered as autosomal recessive in some of the non-progressive ataxic syndromes. Congenital non-progressive ataxias are still being investigated due to the rarity of large pedigrees for genetic studies. If further information on the aetiopathogenesis and clinical progression of childhood ataxias associated with cerebellar hypoplasia is to be acquired, a combined evaluation of metabolic screening, long-term follow-up and radiological analyses is essential. [source] | ||||||||||