Non-syndromic Intellectual Disability: An Experimental In-Depth Exploration of Inheritance Pattern, Phenotypic Presentation, and Genomic Composition.

Background Intellectual disability (ID), also termed mental retardation (MR), is a neurodevelopmental disorder characterized by an intelligence quotient (IQ) of 70 or below and a deficit in at least two behaviors associated with adaptive functioning. The condition is further classified into syndromic intellectual disability (S-ID) and non-syndromic intellectual disability (NS-ID). This study highlights the genes associated with NS-ID. Objectives A genetic study was performed on two Pakistani families to know the inheritance patterns, clinical phenotypes, and molecular genetics of affected individuals with NS-ID. Methodology Samples were collected from two families: families A and B. All affected individuals in both families were diagnosed by a neurologist. Written informed consent was taken from the affected individuals and guardians before collecting the data and sample. Family A belongs to the Swabi District of Pakistan having four affected individuals, out of whom three were male and one was female. Family B also belongs to the Swabi District of Pakistan having two affected individuals, out of whom one was male and one was female. A total of 10 candidate genes were selected and were further screened by microarray analysis. Results In family A, this analysis identified a region of 9.6 Mb on chromosome 17q11.2-q12 between the single nucleotide polymorphisms (SNPs) rs953527 and rs2680398. The region was genotyped using microsatellite markers to confirm the haplotypes in all family members. Based on the phenotype-genotype relationship, 10 possible candidate genes were selected out of more than 140 genes in this critical region of 9.6 Mb. In family B, homozygosity mapping through microarray identified four homozygous areas of affected individuals: two (27,324,822-59,122,062 and 96,423,252123,656,241) on chromosome 8, one (14,785,224-19,722,760) on chromosome 9, and one (126173647-126215644) on chromosome 11. Conclusion An autosomal recessive pattern was found in the pedigrees of both families A and B. Phenotypically affected individuals showed IQ levels below 70. Three genes, CDK5R1, OMG, and EV12A, were found on chromosome 17q11.2-q12 region of affected individuals in family A with high expression in the frontal cortex of the brain, hippocampus, and spinal cord, respectively. Other regions on chromosomes 8, 9, and 11 as evident from the affected individuals in family B can also contribute to the non-syndromic autosomal recessive intellectual disability (NS-ARID). Further research is needed to find the association of these genes with intelligence and other neuropsychiatric conditions.

Sex Differences in All-Cause Inpatient Mortality Risk in Gastric Cancer: Nationwide Inpatient Population-Based Study.

Objective The purpose of this study is to evaluate the differences in demographic characteristics, comorbidities, and hospital outcomes in gastric cancer inpatients by sex and evaluate the risk factors for in-hospital mortality in gastric cancer inpatients by sex. Methods We conducted a cross-sectional study using the nationwide inpatient sample (NIS, 2019). Our sample included 22,415 adult inpatients (age ≥18 years) hospitalized with a primary discharge diagnosis of gastric cancer that was identified by the international classification of diseases, 10th revision (ICD-10) codes of C16.x. Independent univariate binomial logistic regression models were used to evaluate the odds ratio (OR) of predictors associated with all-cause in-hospital mortality in gastric cancer inpatients by sex. Results The total number of patients admitted with gastric cancer was 22,415, out of which 62.7% were males and 37.3% were females, with the mean age at the admission of 65.5 years and 66.4 years, respectively. While studying comorbidities, we found that 41.5% percent of all patients had gastric cancer with metastasis, and there existed a significantly higher prevalence in males (42.2% vs. 40.4% in females). Other important and statistically significant comorbid conditions that were prevalent in these patients include complicated diabetes (12.2%), obesity (12.1%), depression (8%), and alcohol abuse (3.1%). Females between 50-59 years of age were at 2.5 times increased risk of mortality compared to those less than 40 years of age (OR: 2.5; 95% CI: 1.28-4.95). Conclusion Females of the age group 50-59 years are at greater risk of all-cause inpatient mortality due to gastric cancer. Black males are at increased risk of all-cause inpatient mortality compared to White males. Gastric cancer incidence and mortality rates have been down trending with the development of screening and better treatment options, but it still continues to be a major burden on the healthcare system.

In-Hospital Mortality Risk Factor Analysis in Multivessel Percutaneous Coronary Intervention Inpatient Recipients in the United States.

Objectives The primary goal of our study is to evaluate the mortality rate in inpatient recipients of multivessel percutaneous coronary intervention (MVPCI) and to evaluate the demographic risk factors and medical complications that increase the risk of in-hospital mortality. Methods We conducted a cross-sectional study using the Nationwide Inpatient Sample (NIS, 2016) and included 127,145 inpatients who received MVPCI as a primary procedure in United States' hospitals. We used a multivariable logistic regression model adjusted for demographic confounders to measure the odds ratio (OR) of association of medical complications and in-hospital mortality risk in MVPCI recipients. Results The in-hospital mortality rate was 2% in MVPCI recipients and was seen majorly in older-age adults (>64 years, 74%) and males (61%). Even though the prevalence of mortality among females was comparatively low, yet in the regression model, they were at a higher risk for in-hospital mortality than males (OR 1.2; 95% CI 1.13-1.37). While comparing ethnicities, in-hospital mortality was prevalent in whites (79%) followed by blacks (9%) and Hispanics (7.5%). Patients who developed cardiogenic shock were at higher odds of in-hospital mortality (OR 9.2; 95% CI 8.27-10.24) followed by respiratory failure (OR 5.9; 95% CI 5.39-6.64) and ventricular fibrillation (OR 3.5; 95% CI 3.18-3.92). Conclusion Accelerated use of MVPCI made it important to study in-hospital mortality risk factors allowing us to devise strategies to improve the utilization and improve the quality of life of these at-risk patients. Despite its effectiveness and comparatively lower mortality profile, aggressive usage of MVPCI is restricted due to the periprocedural complications and morbidity profile of the patients.

Utilization of Left Ventricular Assist Device for Congestive Heart Failure: Inputs on Demographic and Hospital Characterization From Nationwide Inpatient Sample.

Objectives The first goal of the study is to provide a descriptive overview of the utilization of left ventricular assist device (LVAD) for the treatment of congestive heart failure (CHF) and determine the rates of LVAD use stratified by patients' demographic and hospitals' characteristics in the United States. Next, is to measure the hospitalization outcomes of length of stay (LOS) and cost in inpatients managed with LVAD. Methods We conducted a cross-sectional study using the nationwide inpatient sample and included 184,115 patients (age ≥65 years) with a primary discharge diagnosis of hypertensive and non-hypertensive CHF and was further classified by inpatients who were managed with LVAD. We compared the distributions of demographic and hospital characteristics in CHF inpatients with versus without LVAD by performing Pearson's chi-square test for categorical variables, and independent sample t-test for continuous variables. Results The inpatient utilization of LVAD was 0.93% (1690 out of 184,115) in CHF patients. The LVAD cohort were younger compared to non-LVAD group (mean age, 69.9 years vs. 79.4 years). The utilization rate of LVAD was also almost four times higher in males (1.50%) compared to females (0.36%). Although whites (78.5%) accounted for majority of LVAD recipients, the rate of LVAD utilization was highest in blacks (1.04%) and lowest in Hispanics (0.58%) with whites having utilization rate of 0.89%. Medicare was the dominant primary payer to cover the LVAD inpatients (91.1%), though the rate of LVAD utilization is highest in private (2.22%) and lowest in those covered by public insurance (medicaid/medicare). CHF patients in public hospitals (1.79%) were more than twice more likely to receive LVAD than in private hospitals (0.83%) due to higher utilization rate. LVAD utilization rate was approximately 55 times higher in teaching hospitals (1.67%) compared to non-teaching hospitals (0.03%), and 20 times higher in large bed hospitals (1.41%) compared to small bed-size hospitals (0.07%). CHF patients that received LVAD had a significantly longer LOS (34.6 days vs 9.8 days) and higher inpatient treatment costs ($802,118 vs. $86,302) compared to non-LVAD group. Conclusion The inpatient utilization of LVAD was in CHF patients is higher in males, blacks and private health insurance beneficiaries. In terms of hospital characteristics, the utilization of LVAD for CHF management was higher in large bed sized, and public type and teaching hospitals compared to their counterparts. This data will allow us to devise strategies to improve LVAD utilization and increase its outreach for heart failure patients, especially those on the transplant waiting list. Despite its effectiveness, aggressive usage of LVAD is restricted due to cost-effectiveness and lack of technical confidence among medical professional due to complications.

A Rare Case of Isolated Intramedullary Spinal Cord Cysticercosis.

Neurocysticercosis is a parasitic disease often involving the central nervous system by Taenia solium and is commonly seen in developing countries. The majority of these cases have either isolated brain involvement or combined involvement of the brain and spinal cord. Isolated involvement of the spinal cord is very rare. We report the case of a 20-year-old Indian man who was hospitalized for progressive weakness in all extremities. Magnetic resonance imaging showed a well-defined, round, thick-walled, peripherally enhancing lesion in the intramedullary region, a provisional diagnosis of isolated cysticercosis of the intramedullary region of the spinal cord was made. The patient improved upon needle aspiration of the cystic lesion after surgery, which on post-surgical histological examination confirmed the diagnosis by showing the presence of cysticerci.