Evidence for linkage of nonsyndromic cleft lip with or without cleft palate to a region on chromosome 2

Results from a genome-wide screen of 10 multiplex families ascertained through probands with nonsyndromic cleft lip with or without cleft palate (CL/P) in Mexico, Argentina, and the United States yielded suggestive evidence of linkage to chromosomes 2, 6, 17 and 18. Fine mapping excluded all regions except chromosome 2. Subsequent analysis was performed on the original 10 families plus an additional 16 families using 31 markers on chromosome 2. This analysis showed intriguing evidence of linkage to 2q (Zlr=2.26, empirical P-value=0.028 in a chromosome-wide analysis). Transmission disequilibrium tests also revealed evidence of linkage and disequilibrium for two markers in this region (D2S168 and D2S1400 with P-values=0.022 and 0.006, respectively). A subset of these 26 families provided additional evidence for a susceptibility gene for CL/P on 2q, suggesting that further studies of genes in this region are warranted.     

Isolation and characterization of species-specific DNA probes from Taenia solium and Taenia saginata and their use in an egg detection assay.

Cysticercosis results from ingestion of the eggs of the tapeworm Taenia solium. Reduction of the incidence of human and swine cysticercosis requires identification and treatment of individuals who carry the adult tapeworm. T. solium and Taenia saginata eggs cannot be differentiated on the basis of morphology; thus, in order to improve existing methods for the diagnosis of taeniasis, we have developed highly sensitive, species-specific DNA probes which differentiate T. solium and T. saginata. Recombinant clones containing repetitive DNA sequences which hybridize specifically with genomic DNAs from either species were isolated and characterized. T. solium-specific DNA sequences contained complete and truncated forms of a tandemly repeated 158-bp DNA sequence. An unrelated T. saginata DNA sequence was also characterized and shown to encode a portion of the mitochondrial cytochrome c oxidase I gene. T. solium- and T. saginata-specific DNA probes did not hybridize in dot blot assays either with genomic DNA from the platyhelminths Taenia hydatigena, Taenia pisiformis, Taenia taeniaeformis, Echinococcus granulosus, and Schistosoma mansoni or with genomic DNA from other eukaryotes, including Saccharomyces cerevisiae, Candida albicans, Cryptosporidium parvum, Entamoeba histolytica, Trypanosoma gambiense, Trypanosoma brucei, and Giardia lamblia, Caenorhabditis elegans, and human DNA. By using these T. solium and T. saginata DNA probes, a rapid, highly sensitive and specific dot blot assay for the detection of T. solium eggs was developed.     

Risk factors for delayed graft function and their impact on graft outcomes in live donor kidney transplantation

International Urology and Nephrology - Delayed graft function (DGF) is a manifestation of acute kidney injury uniquely framed within the transplant process and a predictor of poor long-term graft...     

African American polycystic kidney patients receive higher risk kidneys,but do not face increased risk for graft failure or post-transplant mortality

African Americans (AA) are disproportionately affected by end-stage renal disease (ESRD) and have worse outcomes following renal transplantation. Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic condition leading to ESRD necessitating transplant. We explored this population with respect to race by conducting a retrospective analysis of the UNOS database between 2005 and 2019. Our study included 10,842 (AA n = 1661; non-AA n = 9181) transplant recipients whose primary diagnosis was ADPKD. We further stratified the AA ADPKD population with respect to blood groups (AA blood type B n = 295 vs AA non-B blood type n = 1366), and also compared this cohort to AAs with a diagnosis of DM (n = 16,706) to identify unique trends in the ADPKD population. We analyzed recipient and donor characteristics, generated survival curves, and conducted multivariate analyses. African American ADPKD patients waited longer for transplants (924 days vs 747 days P < .001), and were more likely to be on dialysis (76% vs 62%; p < .001). This same group was also more likely to have AA donors (21% vs 9%; p < .001) and marginally higher KDPI kidneys (0.48 vs 0.45; p < .001). AA race was a risk factor for delayed graft function (DGF), increasing the chance of DGF by 45% (OR 1.45 95% CI 1.26–1.67; p < .001). AA race was not associated with graft failure (HR 1.10 95% CI 0.95–1.28; p = .21) or patient mortality (HR 0.84 95% CI 0.69–1.03; p = .09). Racial disparities exist in the ADPKD population. They should be continually studied and addressed to improve transplant equity.     

Incidence of hospital‐acquired pressure injury: A cohort study of adults admitted to public and private hospitals in Sao Paulo,Brazil

This study aimed to estimate the incidence of hospital‐acquired pressure injury (PI) and its risk factors in inpatient and intensive care units of five hospitals (two public and three private) in the city of Sao Paulo, Brazil. A 6‐month follow‐up prospective cohort study (n = 1937) was conducted from April to September 2013. Baseline and follow‐up measurements included demographic and care information, as well as risk assessments for both undernutrition (NRS‐2002) and PI (Braden scale). Poisson regression with robust variance was used for data analysis. A total of 633 patients (32.60%) showed risk for PI. The incidence rate of PI was of 5.9% (9.9% in public hospitals vs 4.1% in private hospitals) and was higher in intensive care units, compared to inpatient care units (10% vs 5.7%, respectively). Risk for PI increased with age (RR = 1.05; 95% CI 1.04‐1.07); was higher in in public hospitals, compared to private hospitals (RR = 4.39; 95% CI 2.92‐6.61); in patients admitted for non‐surgical reasons compared to those admitted for surgical reasons (RR = 1.91; 95% CI 1.12‐3.27); in patients with longer hospital stays (RR = 1.04; 95% CI 1.03‐1.06); high blood pressure (RR = 1.76; 95% CI 1.17‐2.64); or had a risk for undernutrition (RR = 3.51; 95% CI 1.71‐7.24). Higher scores in the Braden scale was associated with a decreased risk of PI (RR = 0.79; 95% CI 0.75‐0.83). The results of our study indicate that 5.9% of all patients developed PI and that the most important factors that nurses should consider are: patient age, care setting, length of hospitalization, comorbidities, reason for admission and nutrition when planning and implementing PI‐preventative actions.     

Short-term multiorgan metabolic benefits of rapid weight loss after sleeve gastrectomy in severely obese patients

BackgroundSleeve gastrectomy (SG) has become the most prevalent bariatric-metabolic surgical approach in the United States. Its popularity among surgeons and patients is mainly due to a better safety profile and less overall morbidity, with broad benefits from a systemic and metabolic perspective.ObjectiveComprehensively describe the short-term multiorgan metabolic effects of rapid weight loss after SG.SettingAcademic hospital, United States.MethodsWe retrospectively reviewed the charts of patients that underwent SG at our institution between 2012 and 2016. We analyzed the required variables to calculate multiple risk scores, such as cardiovascular, hypertension, and diabetes risk scores. Furthermore, the renal and hepatic functions and the metabolic and hematologic profiles were assessed at 12 months of follow-up.ResultsA total of 1002 patients were included in the analysis. The percentage of excess body mass index loss was, on average, 65% at 12 months of follow-up. We observed a positive cardio-renal-hepatic improvement, demonstrated by a substantial reduction of the 10-year cardiovascular risk. We noticed an improvement of renal function, which was more significant in chronic kidney disease (stage ≥2), and a significant improvement on liver function tests (measured by decreased aspartate aminotransferase and alanine transaminase) at 12 months of follow-up. Our data also show a positive impact on decreasing the risk of developing hypertension and type 2 diabetes. There was a positive impact on the lipid profile, with the exception of low-density lipoprotein.ConclusionThere are significant short-term benefits on multiorgan metabolic parameters after rapid weight loss in severely obese patients undergoing sleeve gastrectomy.     

Prevalence and mortality of patients with palliative needs in an acute respiratory setting

IntroductionNECPAL is a tool for identification of patients with advanced chronic disease in need of palliative care. The main objective of the study is to know the prevalence of patients with palliative needs in an acute respiratory ward in a Spanish tertiary hospital using NECPAL. A second objective of the study is to know the annual mortality rate of these patients.Materials and methodsCross sectional study and prospective monitoring of a cohort identified as palliative patients with the NECPAL tool for 12 months. Patient identification was performed in patients admitted to the respiratory ward of our hospital for longer than 3 days. We have assessed the annual vital status (deceased or not deceased) of patients and have recorded demographics, clinical and functional data, as well as the use of healthcare resources.ResultsWe monitored a cohort of 363 patients. Of them, 87 patients (24.3%) (IC 95% 19–30) were identified as NECPAL positive. 60% of patients (n = 64) died within 12 months of their admission. There was no significant difference in the mortality ratio of oncologic versus non oncologic patients. In a multivariable analysis, mortality was associated with demand by patients or relatives for palliative care and with the presence of specific disease progression markers or indicators.Conclusionsprevalence of patients with palliative needs in acute respiratory wards is high (one out of four patients). 60% of the patients identified as NECPAL positive in our cohort died in the first 12 months. Training of healthcare professionals as well as availability of appropriate resources are indispensable factors to improve care of this population.     

Health seeking behaviour and household health expenditures in Benin and Guinea: the equity implications of the Bamako Initiative

Curative and preventive care utilization in Bamako Initiative health centres in Guinea and Benin increased significantly. Service based data and household survey results are compared and interpreted to evaluate the equity aspects of the Bamako Initiative programmes in these settings. Improvements in the use of preventive services are shared by the richer and poorer groups of the population. Inequities are more apparent regarding curative area. An important part of the population is not using Bamako Initiative Health Centres for financial reasons. However, the poor were found to use these Health Centres relatively more than richer socio-economic groups. Challenges of the future are identified and recommendations made as to how to tackle the problem of true indigence.