Saint Francis University

About: Saint Francis University is a education organization based out in Loretto, Pennsylvania, United States. It is known for research contribution in the topics: Population & Osteoblast. The organization has 1694 authors who have published 2038 publications receiving 87149 citations.

NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.

Abstract: NCKAP1/NAP1 regulates neuronal cytoskeletal dynamics and is essential for neuronal differentiation in the developing brain. Deleterious variants in NCKAP1 have been identified in individuals with autism spectrum disorder (ASD) and intellectual disability; however, its clinical significance remains unclear. To determine its significance, we assemble genotype and phenotype data for 21 affected individuals from 20 unrelated families with predicted deleterious variants in NCKAP1. This includes 16 individuals with de novo (n = 8), transmitted (n = 6), or inheritance unknown (n = 2) truncating variants, two individuals with structural variants, and three with potentially disruptive de novo missense variants. We report a de novo and ultra-rare deleterious variant burden of NCKAP1 in individuals with neurodevelopmental disorders which needs further replication. ASD or autistic features, language and motor delay, and variable expression of intellectual or learning disability are common clinical features. Among inherited cases, there is evidence of deleterious variants segregating with neuropsychiatric disorders. Based on available human brain transcriptomic data, we show that NCKAP1 is broadly and highly expressed in both prenatal and postnatal periods and demostrate enriched expression in excitatory neurons and radial glias but depleted expression in inhibitory neurons. Mouse in utero electroporation experiments reveal that Nckap1 loss of function promotes neuronal migration during early cortical development. Combined, these data support a role for disruptive NCKAP1 variants in neurodevelopmental delay/autism, possibly by interfering with neuronal migration early in cortical development.

Random blood glucose may be used to assess long-term glycaemic control among patients with type 2 diabetes mellitus in a rural African clinical setting.

Abstract: Objectives To investigate the diagnostic accuracy of random blood glucose (RBG) on good glycaemic control among patients with diabetes mellitus (DM) in a rural African setting. Methods Cross-sectional study at St. Francis' Hospital in eastern Zambia. RBG and HbA1c were measured during one clinical review only. Other information obtained was age, sex, body mass index, waist circumference, blood pressure, urine albumin–creatinine ratio, duration since diagnosis and medication. Results One hundred and one patients with DM (type 1 DM = 23, type 2 DM = 78) were included. Spearman's rank correlation coefficient revealed a significant correlation between RBG and HbA1c among the patients with type 2 DM (r = 0.73, P < 0.001) but not patients with type 1 DM (r = 0.17, P = 0.44). Furthermore, in a multivariate linear regression model (R2 = 0.71) RBG (per mmol/l increment) (B = 0.28, 95% CI:0.24–0.32, P < 0.001) was significantly associated with HbA1c among the patients with type 2 DM. Based on ROC analysis (AUC = 0.80, SE = 0.05), RBG ≤7.5 mmol/l was determined as the optimal cut-off value for good glycaemic control (HbA1c <7.0% [53 mmol/mol]) among patients with type 2 DM (sensitivity = 76.7%; specificity = 70.8%; positive predictive value = 62.2%; negative predictive value = 82.9%). Conclusions Random blood glucose could possibly be used to assess glycaemic control among patients with type 2 DM in rural settings of sub-Saharan Africa. Objectifs Evaluer la precision diagnostique de la glycemie aleatoire (GA) sur un bon controle glycemique chez les patients atteints de diabete sucre (DS) en milieu rural africain. Methodes Etude transversale a l'hopital Saint Francis dans l'est de la Zambie. La GA et le taux d'HbA1c ont ete mesures au cours d'un examen clinique seulement. D'autres informations obtenues comprenaient l’âge, le sexe, l'indice de masse corporelle, le tour de taille, la pression arterielle, le rapport albumine-creatinine urinaire, la duree depuis le diagnostic et les medicaments. Resultats 101 patients atteints de diabete sucre (DS de type 1: 23, DS de type 2: 78) ont ete inclus. Le coefficient de correlation de rang de Spearman a revele une correlation significative entre la GA et l'HbA1c chez les patients DS de type 2 (r = 0,73, P < 0,001) mais pas chez les patients DS de type 1 (r = 0,17; P = 0,44). De plus, dans un modele de regression lineaire multivarie (R2 = 0,71), la GA (par increment de mmol/L) (B = 0,28; IC95%: 0,24 a 0,32; P < 0,001) etait significativement associee a l'HbA1c chez les patients atteints de DS de type 2. Base sur l'analyse ROC (AUC = 0,80; SE = 0,05), une GA ≤ 7,5 mmol/L a ete determinee comme etant la valeur seuil optimale pour un bon controle glycemique (HbA1c <7,0% (53 mmol/mol)) chez les patients DS de type 2 (sensibilite = 76,7%; specificite = 70,8%; valeur predictive positive = 62,2%; valeur predictive negative = 82,9%). Conclusions La GA pourrait etre utilisee pour evaluer le controle glycemique chez les patients DS de type 2 en milieu rural de l'Afrique subsaharienne. Objetivos Investigar la precision diagnostica de las mediciones aleatorias de glucosa en sangre (GSA) sobre un buen control glucemico en pacientes con diabetes mellitus (DM) en una zona rural Africana. Metodos Estudio croseccional en el Hospital de St. Francis, al este de Zambia. Se midieron GSA y HbA1c durante una sola revision clinica. Otra informacion obtenida eran la edad, el sexo, el indice de masa corporal, la circunferencia de la cintura, la presion sanguinea, el ratio de albumina-creatinina en orina, el tiempo transcurrido desde el diagnostico y la medicacion. Resultados Se incluyeron 101 pacientes con DM (DM tipo 1 = 23, DM tipo 2 = 78). El coeficiente de correlacion de Spearman mostro una correlacion significativa entre la GSA y HbA1c en pacientes con DM tipo 2 (r=0.73, p<0.001), pero no en pacientes con DM tipo 1 (r = 0.17, P = 0.44). Mas aun, en un modelo de regresion linear multiple (R2 = 0.71), la GSA (por incremento mmol/L) (B = 0.28, IC 95%:0.24–0.32, P < 0.001) estaba significativamente asociada con HbA1c en los pacientes con DM tipo 2. Basandose en un analisis ROC (ABC = 0.80, SE = 0.05), se determino una GSA ≤ 7.5 mmol/L como el punto de corte optimo para un control glucemico adecuado (HbA1c < 7.0% (53 mmol/mol)) de pacientes con DM tipo 2 (sensibilidad = 76.7%; especificidad=70.8%; valor predictivo positivo =62.2%; valor predictivo negativo = 82.9%). Conclusiones La GSA podria utilizarse para realizar el control glucemico entre pacientes con DM tipo 2 en emplazamientos rurales de Africa sub-Sahariana.

Diabetes mellitus, hypertension and albuminuria in rural Zambia: a hospital-based survey

Abstract: Objective To assess albuminuria in rural Zambia among patients with diabetes mellitus only (DM group), hypertension only (HTN group) and patients with combined DM and HTN (DM/HTN group). Methods A cross-sectional survey was conducted at St. Francis Hospital in the Eastern province of Zambia. Albumin–creatinine ratio in one urine sample was used to assess albuminuria. Other information obtained included age, sex, body mass index (BMI), waist circumference (WC), blood pressure (BP), glycosylated haemoglobin (HbA1c), random capillary glucose, time since diagnosis, medication and family history of DM or HTN. Results A total of 193 participants were included (DM group: n = 33; HTN group: n = 92; DM/HTN group: n = 68). The participants in the DM group used insulin more frequently as diabetes medication than the DM/HTN group (P < 0.05). Furthermore, the DM group was younger and had lower BMI, WC and BP than the two other groups. In the DM group, HTN group and DM/HTN group, microalbuminuria was found in 12.1%, 19.6% and 29.4% (P = 0.11), and macroalbuminuria was found in 0.0%, 3.3% and 13.2% (P = 0.014), respectively. The urine albumin (P = 0.014) and albumin–creatinine ratio (P = 0.0006) differed between the three groups. Conclusion This hospital-based survey in rural Zambia found a lower frequency of albuminuria among the participants than in previous studies of patients with DM or HTN in urban sub-Saharan Africa. Objectif Evaluer l'albuminurie en zone rurale en Zambie chez les patients atteints du diabete sucre seul (groupe DM), d'hypertension seule (groupe HTN) et chez ceux souffrant des deux (groupe DM/HTN). Methodes Une enquete transversale a ete menee a l'Hopital Saint-Francois, dans la province orientale de la Zambie. Le rapport albumine/creatinine sur un echantillon d'urine a ete utilise pour evaluer l'albuminurie. D'autres informations obtenues comprenaient: l’âge, le sexe, l'indice de masse corporelle, le tour de taille, la pression arterielle, l'hemoglobine glycosylee (HbA1c), le glucose capillaire aleatoire, le temps ecoule depuis le diagnostic, les medicaments et les antecedents familiaux de DM ou d’HTN. Resultats 193 sujets ont ete inclus (groupe DM: n = 33, groupe HTN: n = 92 et groupe DM/HTN: n = 68). Les participants du groupe DM ont utilise de l'insuline plus souvent comme medicament contre le diabete que ceux du groupe DM/HTN (P < 0,05). De plus, le groupe DM etait plus jeune, avait un indice de masse corporelle, un tour de taille et une pression arterielle inferieurs a ceux des deux autres groupes. La microalbuminurie detectee chez le groupe DM, le groupe HTN et le groupe DM/HTN etait de 12,1%, 19,6% et 29,4% (P = 0,11) respectivement et la macroalbuminurie: 0,0%, 3,3% et 13,2% (P = 0,014), respectivement. L'albumine urinaire (P = 0,014) et le rapport albumine/creatinine (P = 0,0006) differaient entre les trois groupes. Conclusion Cette etude en milieu hospitalier rural en Zambie a trouve une frequence d'albuminurie chez les participants inferieure a celle rapportee par des etudes precedentes sur des patients atteints de DM ou d’HTN dans les zones urbaines en Afrique subsaharienne. Objetivo Evaluar la albuminuria en zonas rurales de Zambia entre pacientes con solo diabetes mellitus (grupo DM), solo hipertension (grupo HTN) y pacientes con una combinacion de DM e HTN (grupo DM/HTN). Metodos Estudio croseccional realizado en el Hospital de St. Francis en la Provincia del Este, Zambia. El cociente albumina-creatinina en una muestra de orina se utilizo para evaluar la albuminuria. Otra informacion obtenida incluia la edad, el sexo, el indice de masa corporal, la circunferencia de la cintura, la presion sanguinea, hemoglobina glucosilada (HbA1c), glucemia capilar aleatoria, tiempo desde el diagnostico, medicacion e historia familiar de DM o HTN. Resultados Se incluyeron 193 participantes (grupo DM: n = 33; grupo HTN: n = 92; grupo DM/HTN: n = 68). Los participantes en el grupo DM utilizaban la insulina mas frecuentemente como medicacion para la diabetes que el grupo DM/HTN (P < 0.05). Mas aun, en el grupo DM eran mas jovenes, tenian un menor indice de masa corporal, una menor circunferencia de la cintura y una menor presion arterial que en los otros dos grupos. La microalbuminuria era de 12.1%, 19.6%, 29.4% (P = 0.11) y la macroalbuminuria era de 0.0%, 3.3% and 13.2% (P = 0.014) en el grupo DM, el grupo HTN y el grupo DM/HTN respectivamente. La albumina en orina (P = 0.014) y el cociente albumina-creatinina (P = 0.0006) diferian entre los tres grupos. Conclusion En este estudio hospitalario en Zambia rural se encontro una menor frecuencia de albuminuria entre participantes que en estudios previos de pacientes con DM o HTN en zonas urbanas de Africa subsahariana.

Microbial Diversity in Sub-Seafloor Sediments from the Costa Rica Margin

Abstract: The exploration of the deep biosphere continues to reveal a great diversity of microorganisms, many of which remain poorly understood. This study provides a first look at the microbial community composition of the Costa Rica Margin sub-seafloor from two sites on the upper plate of the subduction zone, between the Cocos and Caribbean plates. Despite being in close geographical proximity, with similar lithologies, both sites show distinctions in the relative abundance of the archaeal domain and major microbial phyla, assessed using a pair of universal primers and supported by the sequencing of six metagenomes. Elusimicrobia, Chloroflexi, Aerophobetes, Actinobacteria, Lokiarchaeota, and Atribacteria were dominant phyla at Site 1378, and Bathyarchaeota, Chloroflexi, Hadesarchaeota, Aerophobetes, Elusimicrobia, and Lokiarchaeota were dominant at Site 1379. Correlations of microbial taxa with geochemistry were examined and notable relationships were seen with ammonia, sulfate, and depth. With deep sediments, there is always a concern that drilling technologies impact analyses due to contamination of the sediments via drilling fluid. Here, we use analysis of the drilling fluid in conjunction with the sediment analysis, to assess the level of contamination and remove any problematic sequences. In the majority of samples, we find the level of drilling fluid contamination, negligible.

Prehospital management of rapid atrial fibrillation: Recommendations for treatment protocols

Abstract: The present study was completed to establish an epidemiological database defining prehospital rapid atrial fibrillation (RAF) and interventions given such patients in the hope of developing recommendations for further treatment protocols. On review of 4,749 paramedic run reports from a low-volume urban emergency medical services (EMS) system, 33 persons (0.69%) presented with RAF. Data collected included vital signs/ventricular rate, patient age, ambulance field times, patient chief complaint, prehospital interventions, efficacy of interventions, additional cardiac rhythms, iatrogenic complications, and patient past medical history. Neither intravenous (IV) diltiazem or electrical cardioversion were used within the 12-month period of this study. Symptomatic/supportive care consisting of observation (72.73%) and interventions (27.27%) with nitroglycerine, furosemide, aspirin, morphine, and/or IV fluid bolus therapy accounted for all prehospital treatment. Paramedics documented improvement in 100% of patients. No cases occurred in which RAF resulted in severe hemodynamic instability. No inappropriate use, point estimate (PE) [(0)/(33) (0.00% to 10.60%)], or unmet need, PE [(0)/(4,716) (0.00% to 0.08%)] of care was noted. The data presented in this study suggest that given similar EMS system characteristics, prehospital RAF is an infrequently encountered, predominantly hemodynamically stable cardiac arrhythmia, readily treatable with symptomatic/supportive care, and cautious observation. The prehospital application of adult advanced cardiac life support guidelines utilizing IV diltiazem and electrical cardioversion for the treatment of RAF may be unnecessary.