Unraveling Down Syndrome: From Genetic Anomaly to Artificial Intelligence-Enhanced Diagnosis.

Down syndrome arises from chromosomal non-disjunction during gametogenesis, resulting in an additional chromosome. This anomaly presents with intellectual impairment, growth limitations, and distinct facial features. Positive correlation exists between maternal age, particularly in advanced cases, and the global annual incidence is over 200,000 cases. Early interventions, including first and second-trimester screenings, have improved DS diagnosis and care. The manifestations of Down syndrome result from complex interactions between genetic factors linked to various health concerns. To explore recent advancements in Down syndrome research, we focus on the integration of artificial intelligence (AI) and machine learning (ML) technologies for improved diagnosis and management. Recent developments leverage AI and ML algorithms to detect subtle Down syndrome indicators across various data sources, including biological markers, facial traits, and medical images. These technologies offer potential enhancements in accuracy, particularly in cases complicated by cognitive impairments. Integration of AI and ML in Down syndrome diagnosis signifies a significant advancement in medical science. These tools hold promise for early detection, personalized treatment, and a deeper comprehension of the complex interplay between genetics and environmental factors. This review provides a comprehensive overview of neurodevelopmental and cognitive profiles, comorbidities, diagnosis, and management within the Down syndrome context. The utilization of AI and ML represents a transformative step toward enhancing early identification and tailored interventions for individuals with Down syndrome, ultimately improving their quality of life.

Assessment of available health services at subcentres as per Indian public health standards guidelines in a district of Jammu and Kashmir India: A cross sectional study.

Background: Subcentre is the lowest rung of a referral pyramid of health facilities. The purpose of health subcentre is mainly providing preventive and promotive services, but it also provides a basic level of curative services. Objectives: To assess the existing services availability at subcentres and identification of gaps between minimum requirements as per Indian public health standards and actual availability of services at subcentres. Material and Methods: It was a cross sectional observational study. Study units were subcentres. Fifty percent of subcentres of the district were selected using simple random sampling method. Check list prepared from Indian public health standards facility survey formats was used for data collection and collected data were analysed using statistical package for social sciences. Results: Majority (58.8%) of the subcentres were catering a population in the range of 1000-3000. Ante-natal and child care related services were available in all subcentres. Intra-natal services were available in only two subcentres. Eighty five percent of subcentres were involved in providing school health related services. Conclusion: Most of the services as recommended by Indian public health standards were available in the studied subcentres. The lack of some services was mainly due to inadequate staff and infrastructure at subcentres. Comprehensive efforts are required to ensure adequate service delivery at all health centres.

Seroprevalence of SARS-CoV-2-specific anti-spike IgM, IgG, and anti-nucleocapsid IgG antibodies during the second wave of the pandemic: A population-based cross-sectional survey across Kashmir, India.

Background: Within Kashmir, which is one of the topographically distinct areas in the Himalayan belt of India, a total of 2,236 cumulative deaths occurred by the end of the second wave. We aimed to conduct this population-based study in the age group of 7 years and above to estimate the seropositivity and its attributes in Kashmir valley. Methods: We conducted a community-based household-level cross-sectional study, with a multistage, population-stratified, probability-proportionate-to-size, cluster sampling method to select 400 participants from each of the 10 districts of Kashmir. We also selected a quota of healthcare workers, police personnel, and antenatal women from each of the districts. Households were selected from each cluster and all family members with age 7 years or more were invited to participate. Information was collected through a standardized questionnaire and entered into Epicollect 5 software. Trained healthcare personnel were assigned for collecting venous blood samples from each of the participants which were transferred and processed for immunological testing. Testing was done for the presence of SARS-CoV-2-specific anti-spike IgM, IgG antibodies, and anti-nucleocapsid IgG antibodies. Weighted seropositivity was estimated along with the adjustment done for the sensitivity and specificity of the test used. Findings: The data were collected from a total of 4,229 participants from the general population within the 10 districts of Kashmir. Our results showed that 84.84% (95% CI 84.51-85.18%) of the participants were seropositive in the weighted imputed data among the general population. In multiple logistic regression, the variables significantly affecting the seroprevalence were the age group 45-59 years (odds ratio of 0.73; 95% CI 0.67-0.78), self-reported history of comorbidity (odds ratio of 1.47; 95% CI 1.33-1.61), and positive vaccination history (odds ratio of 0.85; 95% CI 0.79-0.90) for anti-nucleocapsid IgG antibodies. The entire assessed variables showed a significant role during multiple logistic regression analysis for affecting IgM anti-spike antibodies with an odds ratio of 1.45 (95% CI 1.32-1.57) for age more than 60 years, 1.21 (95% CI 1.15-1.27) for the female gender, 0.87 (95% CI 0.82-0.92) for urban residents, 0.86 (95% CI 0.76-0.92) for self-reported comorbidity, and an odds ratio of 1.16 (95% CI 1.08-1.24) for a positive history of vaccination. The estimated infection fatality ratio was 0.033% (95% CI: 0.034-0.032%) between 22 May and 31 July 2021 against the seropositivity for IgM antibodies. Interpretation: During the second wave of the SARS-CoV-2 pandemic, 84.84% (95% CI 84.51-85.18%) of participants from this population-based cross-sectional sample were seropositive against SARS-CoV-2. Despite a comparatively lower number of cases reported and lower vaccination coverage in the region, our study found such high seropositivity across all age groups, which indicates the higher number of subclinical and less severe unnoticed caseload in the community.

Seroprevalence of SARS-CoV-2-specific IgG antibodies in Kashmir, India, 7 months after the first reported local COVID-19 case: results of a population-based seroprevalence survey from October to November 2020.

OBJECTIVES: We designed a population-based survey in Kashmir to estimate the seroprevalence of SARS-CoV-2-specific IgG antibodies in the general population aged 18 years and above. SETTING: The survey was conducted among 110 villages and urban wards across 10 districts in Kashmir from 17 October 2020 to 4 November 2020. PARTICIPANTS: Individuals aged 18 years and above were eligible to be included in the survey. Serum samples were tested for the presence of SARS-CoV-2-specific IgG antibodies using the Abbott SARS-CoV-2 IgG assay. PRIMARY AND SECONDARY OUTCOME MEASURES: We labelled assay results equal to or above the cut-off index value of 1.4 as positive for SARS-CoV-2-specific IgG antibodies. Seroprevalence estimates were adjusted for the sampling design and assay characteristics. RESULTS: Out of 6397 eligible individuals enumerated, 6315 (98.7%) agreed to participate. The final analysis was done on 6230 participants. Seroprevalence adjusted for the sampling design and assay characteristics was 36.7% (95% CI 34.3% to 39.2%). Seroprevalence was higher among the older population. Among seropositive individuals, 10.2% (247/2415) reported a history of COVID-19-like symptoms. Out of 474 symptomatic individuals, 233 (49.2%) reported having been tested. We estimated an infection fatality rate of 0.034%. CONCLUSIONS: During the first 7 months of the COVID-19 epidemic in Kashmir Valley, approximately 37% of individuals were infected. The reported number of COVID-19 cases was only a small fraction of the estimated number of infections. A more efficient surveillance system with strengthened reporting of COVID-19 cases and deaths is warranted.

Morbidity pattern and impact of rehabilitative services in Earth quake victims of kashmir, India.

BACKGROUND: The Kashmir earthquake also known as South Asia earthquake, hit both sides of Jammu & Kashmir on October 8th 2005 and was quite devastating with official toll of deaths being 73,276 in Pakistan Administered Kashmir (POK) and 1,360 deaths in the Indian administered Kashmir. The injured registering on the two sides were around 100,000 and 6,300 respectively. This was followed by a series of aftershocks on both sides for another 3 weeks METHOD: A follow up (retrospective) survey was conducted by the Department of Community Medicine SKIMS, Srinagar in collaboration with National Institute of Orthopedically Handicapped (NIOH), Kolkata, immediately after the devastating earthquake of October 2008 that hit Kashmir (Jammu & Kashmir- India) and northern parts of India with the objectives to know the nature of the injuries, magnitude of disabilities, rehabilitative services provided, and service satisfaction. Addresses of earthquake victims registered with various health institutions, Tertiary Care Centre, orthopaedic hospital, district hospital and Composite Regional Centre (CRC)(through which rehabilitative services were provided initially) were collected and referral details, if any, to various health institutions. They were visited at their residence and interviewed for the desired information as per proforma by a team comprising of a doctor, physiotherapist, prosthetist and orthotist by making house to house survey in the earthquake areas. An effort for non registered injured victims, if any in the locality, was also made with health or district authorities to trace non registered injured persons RESULTS: The study shows that majority of injured were young adults and adolescent females, and primarily upper extremities, cervical spine and head were injured. The severely injured were shifted within 12-24 hrs to referral hospitals. In 2/3rd of affected families, single member was injured, whereas in 1/3rd at least two were injured. The case fatality rate was <1% because of low prevalence of crush injuries, and quick medical relief/management of the injured. A significant number of seriously injured victims (40%) required rehabilitative services and assistive devices. Probably a quick intervention by medical rehabilitative services, including facility of assistive aids and necessary customised prosthetics and orthotics first time in such disaster, has resulted in high client satisfaction, early restoration of functional and psychological status of the injured victims. CONCLUSION: A collective effort by various public and private agencies with timely response at referral hospitals to various injuries reduced the frequency and chances of major disabling conditions. Intervention by CRC for providing assistive devices has also significantly helped in bringing back the functional and psychological status of the injured victims. Proper inter-sectorial coordination, better managerial skills, training of community volunteers (NGOs), and professionals on disaster management may further reduce the injury related disability and its impact. There is need of updating medico-surgical disaster management training for health care workers on continuous basis at various levels.