Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0235394 (wasting)
 8,040 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

There is a group of inherited cystic nephropathies that are characterized by juvenile onset recessive inheritance (familial juvenile nephronophthisis, FJN) or by adult onset dominant inheritance (medullary cystic disease, MCD) and share similar clinico-pathological presentation to the extent that they are usually grouped together under the term FJN/MCD complex. The main symptoms consist of renal cyst formation in the medulla or the corticomedullary junction and salt wasting. Although earlier reports had suggested that one single gene may be responsible for this pathology, recent reports have shown that the FJN complex itself comprises a genetically heterogeneous group. Here we are presenting two large Cypriot families that segregate autosomal dominant medullary cystic kidney disease (ADMCKD) with hyperuricemia and gout and with very late age of onset (mean 62.2 and 51.5 years). We performed DNA linkage mapping using highly polymorphic microsatellite markers and found linkage to marker locus D1S1595 at 1q21 with a two-point lod score of 6.45 at Theta = 0.00. Analysis of haplotypes and of critical recombinants enabled confinement of the disease locus within an approximately 8 cM region between marker loci D1S498 and D1S2125. FISH mapping with a large P1 clone confirmed the physical localization within 1q21. The two families share the same disease haplotype, thus suggesting their relationship through a common ancestor and the possible existence of a single ADMCKD-causing mutation within these families. To our knowledge this is the first genetic locus identified to cause FJN/MCD pathology of the dominant adult type.
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PMID:Chromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease. 953 96

In this research, three SRTs (about 10, 30 and 75 days (without wasting the sludge except for sampling)) were applied to three reactors equipped with non-woven and coarse pore filter modules. The flux was adjusted to about 1 m/d during operation. The main objective of the study was to compare the performance and microbial population dynamics under different SRTs in this process. The results of reactors with SRTs of about 10 and 30 days have shown very good effluent quality without any clogging problem for more than 4 months of operation. For the reactor with long SRT (75 days), the filter clogging was observed after about 80 days of operation and caused an increase in the operation pressure and deterioration effluent quality on some days. Excessive abundance of filamentous bacteria was observed in the reactor with SRT of about 10 days, which had the best effluent quality. According to the FISH results, type 021N was predominant in the reactor with long SRT, which had the clogging problem. On the other hand, other reactors (with SRTs of about 10 and 30 days) did not contain much type 021N, but some other filamentous bacteria dominated. Maximum EPS concentration (as mg/L) was observed in the reactor with long SRT. Also the abundance of two types of metazoa (Pristina sp. and tardigrades) was observed in the reactor with long SRT, which had the clogging problem and poor effluent quality.
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PMID:Performance and microbial dynamics in the coarse pore filtration activated sludge process at different SRTs (solids retention times). 1292 72

Type I pseudohypoaldosteronism (PHA1) is a rare form of mineralocorticoid resistance presenting in infancy with renal salt wasting and failure to thrive. Here, we present the case of a 6-week-old baby girl who presented with mild hyponatraemia and dehydration with a background of severe failure to thrive. At presentation, urinary sodium was not measurably increased, but plasma aldosterone and renin were increased, and continued to rise during the subsequent week. Despite high calorie feeds the infant weight gain and hyponatraemia did not improve until salt supplements were commenced. Subsequently, the karyotype was reported as 46,XX,inv (4)(q31.2q35). A search of the OMIM database for related genes at or near the inversion breakpoints, showed that the mineralocorticoid receptor gene (NR3C2) at 4q31.23 was a likely candidate. Further FISH analysis showed findings consistent with disruption of the NR3C2 gene by the proximal breakpoint (4q31.23) of the inversion. There was no evidence of deletion or duplication at or near the breakpoint. This is the first report of a structural chromosome disruption of the NR3C2 gene giving rise to the classical clinical manifestations of pseudohypoaldosteronism type 1 in an infant.
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PMID:Structural chromosome disruption of the NR3C2 gene causing pseudohypoaldosteronism type 1 presenting in infancy. 2193 99