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Urine Disease (urine + disease)
Kinds of Urine Disease Selected AbstractsWater Apparent Diffusion Coefficient and T2 Changes in the Acute Stage of Maple Syrup Urine Disease: Evidence of Intramyelinic and Vasogenic-Interstitial EdemaJOURNAL OF NEUROIMAGING, Issue 2 2003Andrea Righini MD ABSTRACT Background. The acute phase of the neonatal classical form of maple syrup urine disease (MSUD) is usually associated with generalized brain edema. Methods and Results. The authors present the case of a newborn infant in the acute stage of the classical form of MSUD in whom a remarkable decrease in the water apparent diffusion coefficient (ADC) in advanced myelinating white matter areas was associated with an increase in the T2 signal. This diffusion magnetic resonance imaging (MRI) pattern appears to be compatible with a rare kind of cytotoxic edema, the so-called intramyelinic edema. At the same time, an increase in the ADC was seen in unmyelinated areas together with an increase in the T2 signal, a sign of a coexistent vasogenic-interstitial edema. Conclusions. ADC measurements in MSUD provide more specific information than conventional MRI about the pathophysiology of white matter changes. [source] Diffusion Magnetic Resonance Imaging in Intermediate Form of Maple Syrup Urine DiseaseJOURNAL OF NEUROIMAGING, Issue 4 2002R. N. Sener ABSTRACT An 8-year-old boy with the intermediate variant of maple syrup urine disease is reported. On b= 1000 s/mm2 (heavily diffusion weighted) images of diffusion magnetic resonance imaging, there was symmetric high signal in the globus pallidus, mesencephalon, dorsal pons, and nucleus dentatus, consistent with restriction of the mobility of water molecules. Apparent diffusion coefficient (ADC) maps revealed low ADC values ranging from 0.42 to 0.56 ?10,3mm2/s in these regions, compared to those of apparently unaffected regions in the brain parenchyma ranging from 0.63 to 0.97 ?10,3 mm 2/s. It is suggested that the areas of increased signal (and low ADC values) are the result of dysmyelination as a reflection of disorganized tissue integrity. [source] Universal newborn screening and adverse medical outcomes: A historical noteDEVELOPMENTAL DISABILITIES RESEARCH REVIEW, Issue 4 2006Jeffrey P. Brosco Abstract Universal newborn screening programs for metabolic disorders are typically described as a triumph of medicine and public policy in the US over the last 50 years. Advances in science and technology, including the Human Genome Project, offer the opportunity to expand universal newborn screening programs to include many additional metabolic and genetic conditions. Although the benefits of such screening programs appear to outweigh their costs, some critics have claimed that historical examples of inadvertent harm ensuing from false-positive screening results and subsequent inappropriate medical treatment should make us wary of expanding universal newborn screening. In this essay, we report the results of a review of the published literature to assess whether the extension of screening from at risk populations to all newborns led to substantial morbidity and mortality from misguided medical treatment. We provide a historical overview of universal newborn screening programs in the United States, and then focus on six early NBS programs: congenital hypothyroidism, phenylketonuria, congenital adrenal hyperplasia, galactosemia, sickle cell disease, and maple syrup urine disease. Our comprehensive search of published sources did not reveal a widespread problem of harm ensuing from medical treatment of children with false positive screening test results. © 2006 Wiley-Liss, Inc. MRDD Research Reviews 2006;12:262,269. [source] Water Apparent Diffusion Coefficient and T2 Changes in the Acute Stage of Maple Syrup Urine Disease: Evidence of Intramyelinic and Vasogenic-Interstitial EdemaJOURNAL OF NEUROIMAGING, Issue 2 2003Andrea Righini MD ABSTRACT Background. The acute phase of the neonatal classical form of maple syrup urine disease (MSUD) is usually associated with generalized brain edema. Methods and Results. The authors present the case of a newborn infant in the acute stage of the classical form of MSUD in whom a remarkable decrease in the water apparent diffusion coefficient (ADC) in advanced myelinating white matter areas was associated with an increase in the T2 signal. This diffusion magnetic resonance imaging (MRI) pattern appears to be compatible with a rare kind of cytotoxic edema, the so-called intramyelinic edema. At the same time, an increase in the ADC was seen in unmyelinated areas together with an increase in the T2 signal, a sign of a coexistent vasogenic-interstitial edema. Conclusions. ADC measurements in MSUD provide more specific information than conventional MRI about the pathophysiology of white matter changes. [source] Diffusion Magnetic Resonance Imaging in Intermediate Form of Maple Syrup Urine DiseaseJOURNAL OF NEUROIMAGING, Issue 4 2002R. N. Sener ABSTRACT An 8-year-old boy with the intermediate variant of maple syrup urine disease is reported. On b= 1000 s/mm2 (heavily diffusion weighted) images of diffusion magnetic resonance imaging, there was symmetric high signal in the globus pallidus, mesencephalon, dorsal pons, and nucleus dentatus, consistent with restriction of the mobility of water molecules. Apparent diffusion coefficient (ADC) maps revealed low ADC values ranging from 0.42 to 0.56 ?10,3mm2/s in these regions, compared to those of apparently unaffected regions in the brain parenchyma ranging from 0.63 to 0.97 ?10,3 mm 2/s. It is suggested that the areas of increased signal (and low ADC values) are the result of dysmyelination as a reflection of disorganized tissue integrity. [source] Pseudo-maple syrup urine disease due to maternal prenatal ingestion of fenugreekJOURNAL OF PAEDIATRICS AND CHILD HEALTH, Issue 4 2001SH Korman Abstract: Fenugreek, maple syrup and the urine of maple syrup urine disease (MSUD) patients all share a characteristic odour originating from a common component, sotolone. Ingestion of fenugreek by mothers during labour resulted in a maple syrup-like odour in their newborn infants, leading to a false suspicion of MSUD. [source] Domino liver transplantation in maple syrup urine disease,LIVER TRANSPLANTATION, Issue 5 2006Ajai Khanna Liver transplantation has been reported in a few cases of maple syrup urine disease (MSUD), but is controversial. Many patients with approved indications for liver transplantation die before grafts are available. A 25-yr-old man with MSUD underwent liver transplantation, and his liver was used as a domino graft for a 53-yr-old man with hepatocellular carcinoma who had low priority on the liver transplant waiting list and was unlikely to survive until routine organ procurement. Both transplants were performed as "piggy back" procedures, reconstructing the domino graft with caval segments from the cadaveric donor. Neither required veno-venous bypass. Whole body leucine oxidation was estimated by 13CO2 in breath after oral boluses of L -[1- 13C]-leucine, before and after transplantation in both patients and a control subject. The surgical outcome was successful. The patient with MSUD had marked decreases in plasma branched-chain amino acids (BCAAs) and alloisoleucine (from 255 ± 66 to 16 ± 7 ,mol/L), despite advancement of dietary protein from 6 to >40 gm/day. The domino recipient maintained near-normal levels of plasma amino acids with no detectable alloisoleucine on unrestricted diet. Leucine oxidation increased in the patient with MSUD (from 2.2 to 5.6% recovered in 4 hours) and decreased in the recipient (from 9.7 to 6.2%). Neither patient demonstrated any apparent symptoms of MSUD over more than 7 months. In conclusion, liver transplantation substantially corrects whole body BCAA metabolism in MSUD and greatly attenuates the disease. Livers from patients with MSUD may be considered as domino grafts for patients who might otherwise not survive until transplantation. Liver Transpl 12:876,882, 2006. © 2006 AASLD. [source] Revisiting MSUD in Portuguese Gypsies: Evidence for a Founder Mutation and for a Mutational Hotspot within the BCKDHA GeneANNALS OF HUMAN GENETICS, Issue 3 2009Sofia Quental Summary Maple syrup urine disease (MSUD) is a rare autosomal recessive disorder of branched-chain amino acid metabolism. In the context of the wide mutational spectrum known for this disease, a few common mutations have been described in populations where founder effects played a major role in modeling diversities. In Portugal, for instance, a high proportion of patients are of Gypsy origin and all share the same mutation (c.117delC-,; p.R40GfsX23), causing the neonatal severe form of MSUD. In this study, we used four microsatellite markers closely flanking the BCKDHA gene (E1, protein) to demonstrate that c.117delC-, is a founder mutation responsible for the high incidence of the disorder among Portuguese Gypsies. These results are of medical relevance since carrier tests and prenatal diagnosis can be offered to families at risk, particularly because the carrier frequency of c.117delC-, was estimated at 1.4% among the healthy Portuguese Gypsies from the South of the country. Finally we present evidence that the genomic region of the BCKDHA gene where c.117delC-, is located is likely a mutational hotspot, since recurrence of c.117delC-, was observed in two distinct population groups. [source] | ||||||||||