Transcobalamin deficiency - a rare genetic defect in transportation of cobalamin; case report.

BACKGROUND: Vitamin B12 is primarily transported from plasma to cells by Transcobalamin. Deficiency of Transcobalamin is a rare autosomal recessive disorder that results in unavailability of cobalamin in cells and accumulation of homocysteine and methylmalonic acid. CASE REPORT: We report a case of a 2-year-old male child with persistent pancytopenia, recurrent infections, and megaloblastic anemia. Next-generation sequencing identified a novel variant in exon 8 of TCN2 gene. Substantial improvement has been observed following administration of high doses of parenteral methylcobalamin. CONCLUSION: In patients with unresolved pancytopenia and megaloblastic anemia, Transcobalamin deficiency should be investigated and treated promptly to prevent any irreversible and harmful outcome.

Real-world evidence of sotrovimab effectiveness for preventing severe outcomes in patients with COVID-19: A quality improvement propensity matched retrospective cohort study of a pan-provincial program in Alberta, Canada.

OBJECTIVE: Post-marketing surveillance of sotrovimab's effect during implementation in the Canadian population is limited. METHODS: The study used a propensity score matched retrospective cohort design. Follow-up began between the periods of December 15, 2021 to April 30 2022. The study assessed any severe outcome defined as all-cause hospital admission, or mortality within 30 days of a confirmed COVID-19 positive test. Covariate adjusted odds ratios between sotrovimab treatment and the severe outcome was conducted using logistic regression. RESULTS: There were 22,289 individuals meeting treatment criteria for sotrovimab. There were 1,603 treated and 6,299 untreated individuals included in the analysis. Outcome occurrence in the study was 5.49% (treated) and 4.21% (untreated), with a median time from diagnosis to treatment of 1.00 days (IQR = 2.00 days). In the propensity-matched cohort, sotrovimab was not associated with a lower odds of a severe outcome (OR = 1.20; 95% CI: 0.91, 1.58), adjusting for confounding variables. CONCLUSION: After adjusting for confounding variables, sotrovimab treatment was not associated with lower odds of a severe outcome within 30-days of COVID-19 positive date.

Exploring the Perceptions and Experiences of female's with ß-Thalassemia Major in a Tertiary Care Private Hospital in Pakistan.

INTRODUCTION: ß-Thalassemia, a genetic condition which influences both the physical and emotional facets of individuals while also exerting substantial financial strain on families and healthcare systems. Recognizing the pivotal influence of social support, particularly on mental well-being, this study endeavors to delve into the shared psychosocial challenges experienced by young girls grappling with ß-thalassemia major. METHODS: Employing a qualitative-descriptive methodology and purposive sampling, this study conducted in-depth interviews with forty-two young girls, 18.64 ± 4.27, diagnosed with ß-thalassemia major and representing diverse academic backgrounds, using a semi-structured in-depth interview guide. NVIVO-12 software facilitated extended data analysis, encompassing coding, categorization, theme development, and mind-mapping techniques to unravel nuanced insights from the collected data. FINDINGS: This groundbreaking study delves into the psychosocial factors that impact the well-being of female ß-thalassemia patients. The research highlights the key factors that positively contribute to their quality of life by conducting thorough inductive content analysis. These include receiving an education, having robust family support, experiencing overall life satisfaction, and making meaningful societal contributions. The findings of this study can be used to improve the lives of female ß-thalassemia patients and enhance their overall well-being. Contrariwise, notable impediments encompassed depression, social isolation, limited access to insurance services, challenges in educational and employment spheres, as well as difficulties in nurturing social relationships. These findings underscore the multifaceted influences shaping the quality of life for girls navigating ß-thalassemia, shedding light on empowering and challenging elements within their experiences. CONCLUSION: In conclusion, psychosocial factors supporting or hindering the well-being of young girls with ß-thalassemia in Pakistan include an inductive atmosphere at homes, organizations, education, institutions with adequate knowledge of thalassemia disease among patients, and society. More research is needed to understand their needs and advocate for societal support. Personalized assistance is crucial for improving their quality of life, necessitating focused efforts to provide understanding and aid within the community.

Long-term health care use and diagnosis after hospitalization for COVID-19: a retrospective matched cohort study.

BACKGROUND: Knowledge pertaining to the health and health care utilization of patients after recovery from acute COVID-19 is limited. We sought to assess the frequency of new diagnoses of disease and health care use after hospitalization with COVID-19. METHODS: We included all patients hospitalized with COVID-19 in Alberta between Mar. 5 and Dec. 31, 2020. Additionally, 2 matched controls (SARS-CoV-2 negative) per case were included and followed up until Apr. 30, 2021. New diagnoses and health care use were identified from linked administrative health data. Repeated measures were made for the periods 1-30 days, 31-60 days, 61-90 days, 91-180 days, and 180 and more days from the index date. We used multivariable regression analysis to evaluate the association of COVID-19-related hospitalization with the number of physician visits during follow-up. RESULTS: The study sample included 3397 cases and 6658 controls. Within the first 30 days of follow-up, the case group had 37.12% (95% confidence interval [CI] 35.44% to 38.80%) more patients with physician visits, 11.12% (95% CI 9.77% to 12.46%) more patients with emergency department visits and 2.92% (95% CI 2.08% to 3.76%) more patients with hospital admissions than the control group. New diagnoses involving multiple organ systems were more common in the case group. Regression results indicated that recovering from COVID-19-related hospitalization, admission to an intensive care unit, older age, greater number of comorbidities and more prior health care use were associated with increased physician visits. INTERPRETATION: Patients recovered from the acute phase of COVID-19 continued to have greater health care use up to 6 months after hospital discharge. Research is required to further explore the effect of post-COVID-19 conditions, pre-existing health conditions and health-seeking behaviours on health care use.

Predicting the Risk Factors Associated With Severe Outcomes Among COVID-19 Patients-Decision Tree Modeling Approach.

Background: The COVID-19 pandemic has seen a large surge in case numbers over several waves, and has critically strained the health care system, with a significant number of cases requiring hospitalization and ICU admission. This study used a decision tree modeling approach to identify the most important predictors of severe outcomes among COVID-19 patients. Methods: We identified a retrospective population-based cohort (n = 140,182) of adults who tested positive for COVID-19 between 5th March 2020 and 31st May 2021. Demographic information, symptoms and co-morbidities were extracted from a communicable disease and outbreak management information system and electronic medical records. Decision tree modeling involving conditional inference tree and random forest models were used to analyze and identify the key factors(s) associated with severe outcomes (hospitalization, ICU admission and death) following COVID-19 infection. Results: In the study cohort, nearly 6.37% were hospitalized, 1.39% were admitted to ICU and 1.57% died due to COVID-19. Older age (>71Y) and breathing difficulties were the top two factors associated with a poor prognosis, predicting about 50% of severe outcomes in both models. Neurological conditions, diabetes, cardiovascular disease, hypertension, and renal disease were the top five pre-existing conditions that altogether predicted 29% of outcomes. 79% of the cases with poor prognosis were predicted based on the combination of variables. Age stratified models revealed that among younger adults (18-40 Y), obesity was among the top risk factors associated with adverse outcomes. Conclusion: Decision tree modeling has identified key factors associated with a significant proportion of severe outcomes in COVID-19. Knowledge about these variables will aid in identifying high-risk groups and allocating health care resources.

Prevalence of medication-related falls in 200 consecutive elderly patients with hip fractures: a cross-sectional study.

BACKGROUND: Hip fractures constitute a major health problem in elderly people and are often fall-related. Several factors can contribute to a fall episode leading to hip fracture, including fall-risk-increasing drugs (FRIDs), which are often used by elderly people. We aimed to investigate the prevalence of medication-related falls and to assess the role of FRIDs and potentially inappropriate medications (PIMs) in a population of elderly patients hospitalized for a hip fracture. METHODS: We reviewed the patient records of 200 consecutive patients, aged ≥65 years, who were admitted for a hip fracture and evaluated whether medications were likely to have contributed to the fall episode. PIMs were identified using the Screening Tool of Older Persons' Prescriptions version 2 (STOPP) and by evaluating indications, contra-indications and interactions of the prescribed medications for each patient. RESULTS: FRIDs were used by 175 patients (87.5%). Medications were considered a likely contributor to the fall in 82 patients (41%). These were most often psychotropic medications alone or in combination with antihypertensives and/or diuretics. The 82 patients with suspected medication-related falls used more medications, FRIDs and PIMs than the rest of the patients, and in 74 (90%) of the 82 patients, at least one medication considered to be a contributor to the fall was also a PIM. CONCLUSIONS: The prevalence of suspected medication-related falls was 41%. It seems likely that a medication review could have reduced, though not eliminated, the risk of falling in this group of patients.

Quality of HIV Testing Data Before and After the Implementation of a National Data Quality Assessment and Feedback System.

CONTEXT: In 2010, the Centers for Disease Control and Prevention (CDC) implemented a national data quality assessment and feedback system for CDC-funded HIV testing program data. OBJECTIVE: Our objective was to analyze data quality before and after feedback. DESIGN: Coinciding with required quarterly data submissions to CDC, each health department received data quality feedback reports and a call with CDC to discuss the reports. Data from 2008 to 2011 were analyzed. SETTING: Fifty-nine state and local health departments that were funded for comprehensive HIV prevention services. PARTICIPANTS: Data collected by a service provider in conjunction with a client receiving HIV testing. INTERVENTION: National data quality assessment and feedback system. MAIN OUTCOME MEASURES: Before and after intervention implementation, quality was assessed through the number of new test records reported and the percentage of data values that were neither missing nor invalid. Generalized estimating equations were used to assess the effect of feedback in improving the completeness of variables. RESULTS: Data were included from 44 health departments. The average number of new records per submission period increased from 197 907 before feedback implementation to 497 753 afterward. Completeness was high before and after feedback for race/ethnicity (99.3% vs 99.3%), current test results (99.1% vs 99.7%), prior testing and results (97.4% vs 97.7%), and receipt of results (91.4% vs 91.2%). Completeness improved for HIV risk (83.6% vs 89.5%), linkage to HIV care (56.0% vs 64.0%), referral to HIV partner services (58.9% vs 62.8%), and referral to HIV prevention services (55.3% vs 63.9%). Calls as part of feedback were associated with improved completeness for HIV risk (adjusted odds ratio [AOR] = 2.28; 95% confidence interval [CI], 1.75-2.96), linkage to HIV care (AOR = 1.60; 95% CI, 1.31-1.96), referral to HIV partner services (AOR = 1.73; 95% CI, 1.43-2.09), and referral to HIV prevention services (AOR = 1.74; 95% CI, 1.43-2.10). CONCLUSIONS: Feedback contributed to increased data quality. CDC and health departments should continue monitoring the data and implement measures to improve variables of low completeness.

Randomized controlled trial to improve childhood immunization adherence in rural Pakistan: redesigned immunization card and maternal education.

OBJECTIVE: A substantial dropout from the first dose of diphtheria-tetanus-pertussis (DTP1) to the 3rd dose of DTP (DTP3) immunization has been recorded in Pakistan. We conducted a randomized controlled trial to assess the effects of providing a substantially redesigned immunization card, centre-based education, or both interventions together on DTP3 completion at six rural expanded programme on immunization (EPI) centres in Pakistan. METHODS: Mother-child pairs were enrolled at DTP1 and randomized to four study groups: redesigned card, centre-based education, combined intervention and standard care. Each child was followed up for 90 days to record the dates of DTP2 and DTP3 visits. The study outcome was DTP3 completion by the end of follow-up period in each study group. RESULTS: We enrolled 378 mother-child pairs in redesigned card group, 376 in centre-based education group, 374 in combined intervention group and 378 in standard care group. By the end of follow-up, 39% of children in standard care group completed DTP3. Compared to this, a significantly higher proportion of children completed DTP3 in redesigned card group (66%) (crude risk ratio [RR] = 1.7; 95% CI = 1.5, 2.0), centre-based education group (61%) (RR = 1.5; 95% CI = 1.3, 1.8) and combined intervention group (67%) (RR = 1.7; 95% CI = 1.4, 2.0). CONCLUSIONS: Improved immunization card alone, education to mothers alone, or both together were all effective in increasing follow-up immunization visits. The study underscores the potential of study interventions' public health impact and necessitates their evaluation for complete EPI schedule at a large scale in the EPI system.

HIV counseling and testing among Hispanics at CDC-funded sites in the United States, 2007.

OBJECTIVES: We sought to determine whether Hispanic-White HIV testing disparities exist and to identify characteristics associated with newly diagnosed HIV among Hispanics. METHODS: We used 2007 HIV Counseling and Testing System data to compare test-level records of Hispanics and non-Hispanic Whites, and we conducted a multivariate logistic regression analysis to identify characteristics associated with newly diagnosed HIV. RESULTS: Relative to Whites, Hispanics were more likely to have had a positive HIV test result (1.2% versus 0.8%), to have newly diagnosed HIV (0.8% versus 0.6%), and to have test results returned and receive posttest counseling more than 2 weeks after testing (24.3% versus 21.5%). Newly diagnosed HIV among Hispanics was most strongly associated with being a man who has sex with men (MSM; adjusted odds ratio [AOR] = 6.8; 95% confidence interval [CI] = 6.1, 7.6), being both an MSM and an injection drug user (AOR = 3.7; 95% CI = 2.6, 5.3), and being aged 40 to 49 years (AOR = 6.4; 95% CI = 4.9, 8.2). CONCLUSIONS: Hispanic-White disparities exist with respect to rates of positive HIV test results and late return of results. HIV prevention strategies such as rapid testing should focus on Hispanic MSM.

Determinants of third dose of diphtheria-tetanus-pertussis (DTP) completion among children who received DTP1 at rural immunization centres in Pakistan: a cohort study.

OBJECTIVE: In Pakistan, a high proportion of children fail to complete third dose of diphtheria-tetanus-pertussis (DTP3) after having received the first dose (DTP1). A cohort study was conducted to identify the factors predicting three doses of diphtheria-tetanus-pertussis (DTP3) completion among children who have received DTP1 at six centres of Expanded Programme on Immunization (EPI) in rural Pakistan. METHOD: We analyzed a cohort of mother-child pairs enrolled at DTP1 between November 2005 and May 2006 in the standard care group of a larger randomized controlled trial. Data were collected from mothers on a structured questionnaire at enrollment, and each child was followed up at clinic visits for 90 days to record dates of DTP2 and DTP3. Multivariable log-binomial regression analysis was performed to identify the independent predictors of DTP3 completion. RESULTS: Only 39% (149/378) of enrolled children completed DTP3 during the follow-up period. After adjusting for the centre of enrollment in multivariable analysis, DTP3 completion was higher among children who were < or =60 days old at enrolment [adjusted risk ratio (Adj. RR) 1.39, 95% confidence interval (CI): 1.06-1.82], who were living in a household with monthly household income >Rs. 3000 (US$ 50) (Adj. RR 1.76, 95% CI: 1.16-2.65), and who were living < or =10 min away from EPI centre (Adj. RR 1.31, 95% CI: 1.04-1.66). CONCLUSIONS: Interventions targeting childhood immunization dropouts should focus on bringing more children to EPI centres on-time for initial immunization. Relocation of existing EPI centres and creation of new EPI centres at appropriate locations may decrease the travel time to the EPI centres and result in fewer immunization dropouts.

Redesigned immunization card and center-based education to reduce childhood immunization dropouts in urban Pakistan: a randomized controlled trial.

In Pakistan during 2000-2004, about 11-13% of children who received the first dose of diphtheria-pertussis-tetanus (DPT1) failed to complete its third dose (DPT3). We assessed the effect of a redesigned immunization card and center-based education to mothers on DPT3 completion. We enrolled 1500 mother-child units at DPT1, randomized them to three intervention and one standard care groups, and recorded their DPT3 visits during a 90-day follow-up. In multivariable analysis, a significant increase of 31% (adjusted RR=1.31, 95% CI=1.18-1.46) in DPT3 completion was estimated in the group that received both redesigned card and center-based education compared with the standard care group.

Pattern of health care utilization and determinants of care-seeking from GPs in two districts of Pakistan.

The aims of the study were to describe the pattern of health care utilization and out-of-pocket expenses incurred in seeking health care, and to identify the determinants of care-seeking from private general practitioners (GP) in two districts of Pakistan. During July-September 2001, we conducted a cross-sectional study in two districts in the Sindh Province of Pakistan. We selected 1,150 participants age > or = 3 months through a two-stage cluster sampling technique. Information was collected about contacts with healthcare providers during the past three months, presenting complaints, type of treatment received, and cost of the latest visit. Of 1,150 participants, 967 (84%) had at least one contact with health care providers during past three months. The mean number of contacts was 1.7. Most of the contacts (66.8%) were with private GPs. The average cost per visit was Pak Rs 106 (US dollar 1.7) and Rs 38 (US dollar 0.6) for GPs and public sector providers, respectively. A multiple logistic regression model revealed those living in urban areas, with monthly household income > Rs 2,500 (US dollar 39.7), an education level > 5 years, and who received both injections and oral drugs were more likely to visit private general practitioners.