Comparing stormwater quality and watershed typologies across the United States: A machine learning approach.

Watersheds continue to be urbanized across different regions of the United States, increasing the number of impaired waterbodies due to urban stormwater. Using machine learning techniques, this study examined how stormwater quality and watershed characteristics are related at a national scale and compared stormwater quality across watersheds in diverse climates. We analyzed a selection of data from the National Stormwater Quality Database (NSQD) comprising 1,881 stormwater samples taken from 182 watersheds in 26 metropolitan areas in the United States between 1992 and 2003. Using an ensemble clustering algorithm, the stormwater quality in these samples was classified into "stormwater signatures," defined as distinct combinations of 9 contaminants including metals (Pb, Zn, Cu), particulates (TSS, TDS), and nutrients (BOD, TP, TKN, NOx). Next, multinomial logistic regression was applied to the NSQD data now classified by signature and combined with climate, weather, land use, and imperviousness data obtained from multiple sources. The results yielded 5 stormwater signatures with distinct aquatic toxicity implications and relationships to climate, weather, land use, and imperviousness: Signature 1 ("Ecotoxic and Eutrophic"), defined by high median concentrations of contaminants, likely represents the first flush in moderate-to-high imperviousness watersheds; Signature 2 ("Reduced Nitrates") represents a wet season signature, particularly for dry climates; Signature 3 ("Potentially Eutrophic") represents the first flush in low imperviousness watersheds; Signature 4 ("Elevated Particulates and Metals") represents a wet season signature, particularly on warmer days; finally, Signature 5 ("Most Dilute") is primarily a regional signature associated with the warm, wet climate of the southeastern US. This study serves as a proof-of-concept demonstrating how machine learning techniques can be used to identify patterns in high-dimensional and highly variable data. Applied to stormwater quality, these techniques identify major patterns in stormwater quality across the United States using a stormwater signature approach, which examines how contaminants co-occur and under what climate, weather, land use, and impervious conditions. The findings point to dominant processes driving stormwater generation and inform watershed monitoring, green infrastructure planning, stormwater quality under climate change, and opportunities for public engagement.

Depresión en el adulto mayor intervenido quirúrgicamente.

OBJECTIVE: To determine the degree of depression in elderly adults after surgery and its relation with the duration of anesthesia. METHOD: We conducted an observational, comparative, prospective and longitudinal study. We included 73 elderly adults aged 60 scheduled for different surgical procedures. Their degree of depression was evaluated prior to and after the surgery with the short version of the Yasavage Geriatric Depression Scale. They were classified according to the score: no depression (0-5), mild depression (6-9) and established depression (10-15). The relation of depression with anesthesia duration was determined. The sample size was calculated for proportions. Descriptive statistics were used as well as χ2 (p < 0.05). RESULTS: In the first evaluation 47 patients (64%) were not depressed, 21 (29%) had mild depression and 5 (7%) had established depression. In the second evaluation, we found that 44 patients (60%) were not depressed, 21 (29%) had mild depression and 8 (11%) had established depression. The relation between depression and anesthesia duration was χ2 = 0.81. CONCLUSIONS: We did not establish a relation between depression and anesthesia duration in surgically intervened elderly adults.

OBJETIVO: Determinar el grado de depresión en el adulto mayor tras una cirugía y su relación con el tiempo anestésico. MÉTODO: Estudio observacional, comparativo, prospectivo y longitudinal. Se incluyeron 73 adultos mayores de 60 años programados para diferentes cirugías. Se evaluó el grado de depresión antes y después de la cirugía con la Escala de Depresión Geriátrica de Yasavage versión corta. Se clasificó según la puntuación: sin depresión (0-5), depresión leve (6-9) y depresión establecida (10-15). Se relacionó la depresión con el tiempo anestésico. El tamaño muestral se calculó para proporciones. Se utilizó estadística descriptiva y prueba χ2 (p < 0.05). RESULTADOS: En la primera evaluación se observaron 47 (64%) pacientes sin depresión, 21 (29%) con depresión leve y 5 (7%) con depresión establecida. En la segunda evaluación se encontraron 44 (60%) pacientes sin depresión, 21 (29%) con depresión leve y 8 (11%) con depresión establecida. Para la relación entre depresión y tiempo anestésico, χ2 = 0.81. CONCLUSIONES: No se encontró relación entre la depresión y el tiempo anestésico en adultos mayores intervenidos quirúrgicamente.

Oblique facial clefts in Johanson-Blizzard syndrome.

Johanson-Blizzard syndrome (JBS) is considered as an infrequent, but clinically easily recognizable autosomal recessive entity by the pathognomonic combination of congenital exocrine pancreatic insufficiency and hypoplastic alae nasi, in addition to other distinctive findings such as scalp defects, hypothyroidism, and rectourogenital malformations. There are few reports of patients with JBS in association with facial clefting, referring all to types 2 to 6 of Tessier's classification that can be characterized properly as oblique facial clefts (OFCs). We describe the clinical aspects in four patients with JBS and extensive OFCs. In all of them, the diagnosis of JBS was confirmed by the demonstration of homozygous or compound-heterozygous mutations in the UBR1 gene. Additionally, we review three previously reported cases of JBS with OFCs. Taking into account a number of approximately 100 individuals affected by JBS that have been published in the literature we estimate that the frequency of OFCs in JBS is between 5% and 10%. This report emphasizes that extensive OFCs may be the severe end of the spectrum of facial malformations occurring in JBS. No obvious genotype phenotype correlation could be identified within this cohort. Thus, UBR1 should be included within the list of contributory genes of OFCs, although the exact mechanism remains unknown. © 2016 Wiley Periodicals, Inc.

Mutations in the human UBR1 gene and the associated phenotypic spectrum.

Johanson-Blizzard syndrome (JBS) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical facial features, dental anomalies, hypothyroidism, sensorineural hearing loss, scalp defects, urogenital and anorectal anomalies, short stature, and cognitive impairment of variable degree. This syndrome is caused by a defect of the E3 ubiquitin ligase UBR1, which is part of the proteolytic N-end rule pathway. Herein, we review previously reported (n = 29) and a total of 31 novel UBR1 mutations in relation to the associated phenotype in patients from 50 unrelated families. Mutation types include nonsense, frameshift, splice site, missense, and small in-frame deletions consistent with the hypothesis that loss of UBR1 protein function is the molecular basis of JBS. There is an association of missense mutations and small in-frame deletions with milder physical abnormalities and a normal intellectual capacity, thus suggesting that at least some of these may represent hypomorphic UBR1 alleles. The review of clinical data of a large number of molecularly confirmed JBS cases allows us to define minimal clinical criteria for the diagnosis of JBS. For all previously reported and novel UBR1 mutations together with their clinical data, a mutation database has been established at LOVD.

[Wilson's disease: pediatric experience in Costa Rica]. / Enfermedad de Wilson: experiencia pediátrica en Costa Rica.

BACKGROUND: Costa Rica is known to have a relatively high prevalence of Wilson's disease (WD). The present study describes the clinical presentation and demographic characteristics of patients diagnosed with WD at the Country's National Pediatric Hospital. METHODS: We performed a retrospective chart review of all patients diagnosed with WD from January 1992 to March 2006. RESULTS: Thirty-five patients were diagnosed with WD and 69% were male (n=24). Age at presentation was 10+/-2 years (range, 5-15). Clinical presentation included hepatic features in 69% (n=24), hematological features in 11% (n=4) and neurological features in 3% (n=1). Six patients (17%) were asymptomatic siblings. Six children (17%) died from fulminant hepatic failure. Liver biopsies were performed in 21 patients (60%), showing cirrhosis in five. Five patients underwent liver transplantation due to acute liver failure. CONCLUSIONS: WD should be suspected in children with chronically abnormal liver function tests. The clinical presentation of autochthonous patients was similar to that in children diagnosed in other countries.

Enfermedad de Wilson: experiencia pediátrica en Costa Rica / Wilson' s disease: pediatric experience in Costa Rica

AntecedentesCosta Rica es conocida por tener un índice de prevalencia relativamente alto de enfermedad de Wilson (EW). En el presente estudio se describe la presentación clínica y las características demográficas de los pacientes diagnosticados con EW en el Hospital Nacional de Niños de Costa Rica.MétodosRevisión retrospectiva de los expedientes de todos los pacientes diagnosticados de EW desde enero de 1992 hasta marzo de 2006.Resultados35 pacientes fueron diagnosticados de EW, y un 69% eran varones (n=24). La edad en el momento de presentación era de 10±2 años (rango, 5–15). En la presentación clínica se incluían síntomas hepáticos en el 69% de los casos (n=24), hematológicos en el 11% (n=4) y neurológicos en el 3% (n=1). Seis (17%) eran hermanos asintomáticos. Seis niños (17%) fallecieron a causa de un fallo hepático fulminante. Se realizaron biopsias hepáticas en 21 pacientes (60%), que revelaron la presencia de cirrosis en 5 de ellos. Se llevó a cabo un trasplante hepático en 5 pacientes debido a una fallo hepático agudo.ConclusionesLa EW debe sospecharse en niños con anormalidades persistentes de la función hepática. La presentación clínica de pacientes autóctonos fue similar a la descrita en poblaciones pediátricas de otros países (AU)

BackgroundCosta Rica is known to have a relatively high prevalence of Wilson's disease (WD). The present study describes the clinical presentation and demographic characteristics of patients diagnosed with WD at the Country's National Pediatric Hospital.MethodsWe performed a retrospective chart review of all patients diagnosed with WD from January 1992 to March 2006.ResultsThirty-five patients were diagnosed with WD and 69% were male (n=24). Age at presentation was 10±2 years (range, 5–15). Clinical presentation included hepatic features in 69% (n=24), hematological features in 11% (n=4) and neurological features in 3% (n=1). Six patients (17%) were asymptomatic siblings. Six children (17%) died from fulminant hepatic failure. Liver biopsies were performed in 21 patients (60%), showing cirrhosis in five. Five patients underwent liver transplantation due to acute liver failure.ConclusionsWD should be suspected in children with chronically abnormal liver function tests. The clinical presentation of autochthonous patients was similar to that in children diagnosed in other countries (AU)

Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome).

Johanson-Blizzard syndrome (OMIM 243800) is an autosomal recessive disorder that includes congenital exocrine pancreatic insufficiency, multiple malformations such as nasal wing aplasia, and frequent mental retardation. We mapped the disease-associated locus to chromosome 15q14-21.1 and identified mutations, mostly truncating ones, in the gene UBR1 in 12 unrelated families with Johanson-Blizzard syndrome. UBR1 encodes one of at least four functionally overlapping E3 ubiquitin ligases of the N-end rule pathway, a conserved proteolytic system whose substrates include proteins with destabilizing N-terminal residues. Pancreas of individuals with Johanson-Blizzard syndrome did not express UBR1 and had intrauterine-onset destructive pancreatitis. In addition, we found that Ubr1(-/-) mice, whose previously reported phenotypes include reduced weight and behavioral abnormalities, had an exocrine pancreatic insufficiency, with impaired stimulus-secretion coupling and increased susceptibility to pancreatic injury. Our findings indicate that deficiency of UBR1 perturbs the pancreas' acinar cells and other organs, presumably owing to metabolic stabilization of specific substrates of the N-end rule pathway.