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Introduction: Management of lysosomal storage disorders (LSDs) requires periodic visits for medical surveillance and hospitalizations. Management of LSDs may have been adversely impacted during the COVID-19 pandemic. Objective: To identify the factors impacting health care for patients with LSDs during the COVID-19 pandemic. Methods: An observational study was conducted in Mumbai comparing infusion practices and reasons for missed infusions for 15 months before March 2020 versus two phases during the pandemic (April 2020–March 2021 and April 2021–March 2022) in patients receiving intravenous enzyme replacement therapy (ERT) and on oral substrate reduction therapy (SRT). Results: Fifteen patients with LSDs were enrolled. Before the pandemic, 6/13 (46%) were receiving ERT at the study site, 4/13 (31%) at a local hospital, and 3/13 (23%) at home; two were on SRT. The median distance traveled for receiving ERT was 37 km, and 4.4 infusions/patient were missed. From April 2020 to March 2021, two more patients opted for home ERT infusions. The median distance traveled for receiving ERT was 37 km, and 11.6 infusions/patient were missed. From April 2021 to March 2022, one more patient opted for home ERT infusions. The median distance traveled for receiving ERT was 7 km, and 5.6 infusions/patient were missed. The pandemic also affected SRT compliance adversely. For all patients, the cause of disrupted treatment was travel curbs (69%) and fear of getting COVID-19 infection (38%). Conclusions: Treatment of LSDs was disrupted during the pandemic, with an increase in missed ERT infusions and SRT doses. [ABSTRACT FROM AUTHOR]

Background and Objectives: Students with borderline intellectual functioning ("slow learners") underperform in all school subjects. The primary objective of this study was to evaluate the self-perceived anxiety symptoms of slow learners. Its secondary objective was to analyze impact of sociodemographic variables on their symptoms. Settings and Design: Cross-sectional single-arm questionnaire-based study was conducted in the learning disability clinic of a public medical college in Mumbai. Subjects and Methods: One hundred slow learners aged ≥8 to <18 years were recruited by non-probability sampling. Their anxiety symptoms scores were measured using the Screen for Child Anxiety Related Disorders-Child version (SCARED-C) instrument. Statistical Analysis: Multivariate regression analysis was performed for determining the "independent" impact that variables had on the SCARED-C ("individual subscales" and "overall") scores. Results: Symptoms of "separation anxiety" were present in 40%, followed by "social anxiety" in 32%, "generalized anxiety" in 31%, "panic" in 26%, "significant school avoidance" in 24%; and "overall anxiety" in 38% of slow learners. Multivariate analysis revealed that: (i) co-occurring attention-deficit/hyperactivity disorder was significantly associated with having panic symptoms (P = 0.040), and, (ii) studying in a Secondary School Certificate or Higher Secondary Certificate educational board-affiliated school was significantly associated with having symptoms of "generalized anxiety," "social anxiety," and "overall anxiety" (P = 0.009, P = 0.026, and P = 0.046, respectively). Conclusions: Many slow learners in our city have symptoms of anxiety disorders and overall anxiety. There is an urgent need to screen them for anxiety disorders to facilitate their optimum rehabilitation. [ABSTRACT FROM AUTHOR]

Aims: The primary objective of the present study was to evaluate the economic burden of limited English proficiency (LEP) by estimating its direct, indirect, and intangible costs. A secondary objective was to assess the impact of variables on the economic burden. Design and Setting: A cross-sectional single-arm descriptive study conducted in a learning disability clinic in a public medical college in Mumbai. Subjects and Methods: The study cases (aged ≥8 years and ≤18 years) were recruited by non-probability sampling. A structured questionnaire was used to interview the parent to collect data related to direct and indirect costs. Intangible cost data were collected by documenting the willingness-to-pay value using the contingent valuation technique. Statistical Analysis Used: A multivariate regression model was used to assess the impact of predictor variables on the costs. Results: The direct, indirect, and intangible costs due to LEP were Indian Rupees (INR) 826,736, 3,828,220, and 1,906,300, respectively. Indirect costs comprised 82.2% of the total costs. Expenditure on tuition and remedial education comprised 39.86% and 14.08% of the indirect and direct costs, respectively. The average annual learning disability clinic costs were INR 2,169,146. The average annual total costs per student were INR 42,102. Higher socioeconomic status was predictive of increased "indirect costs", "total costs", and "intangible costs." Conclusion: LEP is a cost-intensive condition (indirect > intangible > direct costs). Non-medical costs are the costliest component of direct costs. Parental loss of earnings is the costliest component of indirect costs. [ABSTRACT FROM AUTHOR]

Background and Objectives: Students with borderline intellectual functioning ("slow learners") underperform in all school subjects. The primary objective of this study was to evaluate the parental-perceived health-related quality of life (HRQoL) of these students. Its secondary objective was to analyze the impact of sociodemographic variables on their HRQoL. Settings and Design: Cross-sectional single-arm questionnaire-based study was conducted in the learning disability clinic in a public medical college in Mumbai. Subjects and Methods: One hundred parents of slow learners aged 8 to 16 years were recruited by non-probability sampling. Their HRQoL scores were measured using the English DISABKIDS chronic generic module parent (proxy) long-version ("DCGM-37-P") instrument. Statistical Analysis: Multiple regression analysis was carried out for determining the "independent" impact that sociodemographic variables had on a poor facet and total score outcomes. Results: Clinically significant deficits were detected in 4 facets, namely: small deficit in "social inclusion"; medium deficits in "independence", "emotion", and "social exclusion"; and large deficit in "total score". Multivariate analysis revealed that: (i) being an only child predicted a poor "emotion" and "social exclusion" facet score outcomes (P = 0.039 and P = 0.024, respectively); (ii) being a female predicted a poor "social inclusion" facet score outcome (P = 0.022); and, (iii) studying in a single-gender school predicted a poor "limitation" facet score outcome (P = 0.020). Conclusions: Parents of slow learners perceive their psychosocial and total HRQoL to be significantly compromised. There is a need to evaluate the HRQoL of slow learners so that optimum rehabilitation can be facilitated. [ABSTRACT FROM AUTHOR]

The article highlights the clinical manifestations of Blau syndrome (BS), a rate autosomal dominant form of a multi-system inflammatory condition which presents with arthritis, dermatitis and uveitis. It describes the epidemiology, demographics and ophthalmic manifestations of BS. It discusses the differential diagnosis of BS, genetic testing for nucleotide-binding oligomerization domain 2 mutations and its implications and management of BS with surgical interventions and immunosuppression.

Background and Objectives: School students with specific learning disabilities (SpLDs) endure academic difficulties, anxiety, and social maladaptation. The primary objective of the present study was to evaluate the emotional intelligence (EI) abilities of these afflicted students. Its secondary objective was to analyze the impact of socio-demographic variables on their EI abilities. Settings and Design: Cross-sectional single-arm questionnaire-based study was conducted in the Learning Disability clinic in a public medical college in Mumbai. Subjects and Methods: SpLD students studying in class standards VII–IX were recruited by non-probability sampling. Their EI (overall, subscales, and settings) scores were measured using the Four EsScale of Emotional Intelligence-Adolescents (FESEI-A) questionnaire; and compared with Indian norm scores by utilizing the Mann - Whitney U test. To evaluate the unadjusted impact that each of the "variables" had on the FESEI-A scores, linear regression or the Mann-Whitney U test, or the Kruskal-Wallis test, was utilized as applicable. Results: SpLD students had similar "overall" EI abilities as their regular peers. Their EI scores in school setting were significantly lower (P = 0.001), but significantly higher in social setting (P = 0.005). At univariate level, presence of co-occurring attention-deficit/hyperactivity disorder was significantly associated with a lower "school setting" score (P = 0.040). Higher socioeconomic status was significantly associated with a higher "overall" score and "family setting" score (P = 0.023 and P= 0.041, respectively). Conclusions: There is an urgent need to evaluate the EI abilities of SpLD students to identify deficits so that optimum rehabilitation can be facilitated. [ABSTRACT FROM AUTHOR]

The author comments on a study which explored the prevalence of child sexual abuse (CSA) in India. Topics covered include a review of the data on the number of rape incidents in India per 100,000 citizens in 2020, how to recognize children who are victims of sexual abuse, and the long-term effects of sexual abuse on children.

Background: The pharmacokinetics of primaquine [PQ] have been the subject of studies in both adults and healthy participants. However, there is no study on its pharmacokinetics in a setting of undernourishment. In India, there is evidence to show considerable malnourishment in children that in turn can affect drug pharmacokinetics. Given that the country is moving towards malaria elimination, the present study was planned with the objective of comparing pharmacokinetics of the drug in undernourished children relative to normally nourished children. Materials and Methods: After Institutional Ethics Committee approval, children of either gender between the ages of 5 and 12 years and smear-positive for Plasmodium vivax malaria were included. Nourishment status was determined using the Indian Academy of Pediatrics classification of protein energy malnutrition based on Khadilkar's growth charts. Twelve children each were enrolled in the two groups. PQ was given in the dose of 0.3 mg/kg/d and blood collections were made at 0, 1, 2, 3, 4, 6, 8 and 24 hours post-dosing. Levels were estimated by high-performance liquid chromatography. Chloroquine in the dose of 25 mg/kg was given over three days along with supportive care. Results: Of the 24 children, there were 17 boys and 7 girls. There was a statistically significant difference in the body weight between the undernourished and the normally nourished children [21.5 ± 5.52 vs. 28.8 ± 8.84, P < 0.05]. PQ levels showed wide inter-individual variation in both groups. No significant difference was seen in any pharmacokinetic parameter between the two groups. Discussion: This study adds to the limited body of evidence on the pharmacokinetics of PQ in children with malaria and indicates that the dosing of primaquine could potentially be independent of the nourishment status. [ABSTRACT FROM AUTHOR]

Aims: The primary objective of this study was to evaluate the economic burden of slow learners (students with "borderline intellectual functioning") by estimating its direct, indirect, and intangible costs. The secondary objective was to assess the impact of variables on the economic burden. Settings and Design: Cross-sectional, single-arm descriptive study. Setting: Learning disability clinic in a public medical college in Mumbai. Materials and Methods: The study cases (age ≥5 - 18 years) were recruited by nonprobability sampling. A structured questionnaire was used to interview the parent to collect data related to direct and indirect costs. Intangible costs data were collected by documenting the willingness-to-pay value using the contingent valuation technique. Statistical Analysis Used: A quantile regression model was used to assess the impact of predictor variables on the costs. Results: The direct, indirect, and intangible costs of slow learners were INR 6,065,915, 10,298,613, and 145,172,800, respectively. Indirect costs comprised 62.9% of the total costs. Expenditure on tuitions, medications, and remedial education comprised 57.38%, 16.18%, and 10.30% of the direct costs, respectively. The average annual total costs of slow learners were INR 3,544,880. The average annual learning disability clinic costs were INR 2,250,194. The average annual total costs per student were INR 57,951. Longer duration of poor school performance was predictive of higher direct and total costs. Conclusion: The economic burden of slow learners is enormous (intangible > indirect > direct costs). Tuitions are the most costly component of direct costs. Parental loss of earnings is the most costly component of indirect costs. [ABSTRACT FROM AUTHOR]

Aims: The primary objective of the present study was to evaluate the economic burden of specific learning disability (SpLD) by estimating its direct, indirect, and intangible costs. A secondary objective was to assess the impact of variables on the economic burden. Settings and Design: Cross-sectional single-arm descriptive study. Setting: Learning disability clinic in a public medical college in Mumbai. Subjects and Methods: The study cases (aged ≥8 years) were recruited by non-probability sampling. A structured questionnaire was used to interview the parent/guardian to collect data related to direct and indirect costs. Intangible costs data were collected by documenting the willingness-to-pay value using the contingent valuation technique. Statistical Analysis Used: A quantile regression model was used to assess the impact of predictor variables on the costs. Results: The direct, indirect, and intangible costs due to SpLD were Indian Rupees (INR) 5,936,053, 29,261,220, and 42,295,000, respectively. Indirect costs comprised 83.1% of the total costs. Expenditure on tuitions and remedial education comprised 61.61% and 64.39% of the indirect and direct costs, respectively. The average annual learning disability clinic costs were INR 2,169,888. The average annual total costs per student were INR 90,773. Longer duration of poor school performance was predictive of higher direct, indirect, and total costs; and higher socioeconomic status was predictive of lower intangible costs. Conclusion: SpLD is a cost-intensive disability (intangible > indirect > direct costs). Tuitions, which are not the therapy for SpLD, are the most costly component of indirect costs. Remedial education is the most costly component of direct costs. [ABSTRACT FROM AUTHOR]

The authors reflect on the lessons and insights over the use of enzyme replacement therapy (ERT) to treat lysosomal storage disorders (LSD) in India. Topics include the possible causes of LSDs like deficiency of enzymes, activator proteins, and membrane transport proteins, the most common LSD types like Gaucher disease, Fabry disease, and mucopolysaccharidosis (MPS) type I, as well as some ERT drugs like imiglucerase, agalsidase beta, and laronidase.

Aim: Anxiety disorders usually remain undiagnosed in school students owing to the internalized nature of their symptoms. The present study was conducted with the primary objective of evaluating the prevalence of anxiety symptoms in school students in Mumbai. A secondary objective was to assess the impact of variables (age, gender, presence of sibling, and type of school curriculum or school) on anxiety symptoms. Materials and Methods: Study cases (8–15 year olds) were recruited by nonprobability sampling from four English-medium schools. Anxiety was measured using Spence Children's Anxiety Scale (SCAS)-child self-report questionnaire. T-scores (total and subscales) were calculated and cut-off scores of >60 were considered as significant. Results: Symptoms of overall anxiety were present in 10.8% (53/493) of the students. Older students (12–15 year olds) had greater odds of having overall anxiety symptoms (crude OR = 4.36, 95% CI 2.27 to 8.39, P < 0.0001). Symptoms of all anxiety disorders were present in the 493 participants, with obsessions/compulsions and fears of physical injury being the most common (in 29.6% and 27.2%, respectively). Older students and boys had greater odds of having obsessions/compulsions (crude OR = 2.32, 95% CI 1.56 to 3.44, P < 0.0001; and crude OR = 1.54, 95% CI 1.04 to 2.27, P= 0.035, respectively]. Students with sibling (s) had greater odds of having fears of physical injury (crude OR = 0.48, 95% CI 0.30 to 0.78, P= 0.003). Conclusions: There is an urgent need to screen school students in our city for anxiety disorders. [ABSTRACT FROM AUTHOR]

The author offers tips on preparing a model research paper for successful publication in eminent peer-reviewed biomedical journals. Topics covered include the components of the basic Introduction, Methods, Results, and Discussions (IMRaD) structure of a manuscript, how to create the different sections, like methods section, results section and discussion section, of the research paper, and the importance of adhering to the instructions to authors.

The article summarizes some of the ways India can enhance its progress toward measles elimination. Topics covered include the Expanded Program of Immunization in India in 1978, India as one of the last countries to introduce measles-containing vaccine 2 in the national immunization schedule, and funds required by the country for implementing supplementary immunization activities, routine immunization, and measles-rubella surveillance over 2013 to 2020.

The author discusses the impact of the internet on child mental health, education, and social communication in India. Topics discussed include the estimated number of internet subscribers in the country according to the Telecom Regulatory Authority of India, the definition of electronic media learning, and the establishment of interpersonal connection of adolescents with their peers, parents, siblings, and other adults outside the family unit.

Background and Objectives: School students with specific learning disabilities (SpLDs) experience chronic academic underachievement and resultant stress. The present study aimed to determine if school students with newly diagnosed SpLD were more likely to have anxiety than their regular peers. Materials and Methods: The study cases (aged 8-15 years) were recruited from our institute’s learning disability clinic. The matched controls were recruited from four schools in Mumbai, Maharashtra, India. Anxiety was measured using the Spence Children’s Anxiety Scale (SCAS)-child self-report version questionnaire. Median SCAS scores and the proportion of students with an SCAS score in the “clinical anxiety” range were compared between the groups. Results: SCAS scores were significantly higher in 8-11-year-old learning-disabled male and female students (P < 0.0001 for both groups) and 12-15-year-old female students (P = 0.004), as compared with matched controls. A significantly higher number of learning-disabled students were found to have “clinical anxiety” [24.64% vs 4.35%, crude odds ratio (OR) = 7.19, 95% confidence interval (CI) 2.91-17.78, P = 0.0001], as compared with the controls regardless of gender, age group, presence of comorbid attention-deficit/hyperactivity disorder (ADHD), or associated medical conditions. A significantly higher proportion of 8-11-year-old learning-disabled students, especially males, were found to have “clinical anxiety” as compared with 12-15-year-old learning-disabled students (crude OR = 4.38, 95% CI 1.94-9.92, P = 0.0004). Gender, presence of comorbid ADHD or associated medical conditions, and type of school attended or curriculum did not impact the prevalence of “clinical anxiety” in learning-disabled students. Interpretation and Conclusions: Students with newly diagnosed SpLD have greater odds of being “clinically anxious” relative to their regular peers. We recommend screening for anxiety in children with SpLD immediately after diagnosis so that their optimum rehabilitation can be facilitated. [ABSTRACT FROM AUTHOR]

The author focuses on tuberculosis (TB), human immunodeficiency virus (HIV) and the immune reconstitution inflammatory syndrome (IRIS) in India. Topics discussed include the introduction of antiretroviral therapy (ART) targeting HIV infection, HIV and TB coinfection and symptoms of patients with TB-IRIS.

The editor stresses the need for quality research in Indian medical colleges and teaching institutions. He cites reasons for this need including the current Indian population and the mixed and varied population in India that can influence the profile and manifestations of a disease and its response to therapy. He challenges medical teachers to develop independent, creative and critical thinking to do quality research and to undergo training in research methodology.

The author reports on some of the changes made in the "Journal of Postgraduate Medicine" between 2016 and 2020. Topics mentioned include access of medical students and researchers to updated medical information in a few minutes, the journal's effort to be vigilant in ensuring that the authors mention ethical approval and written informed consent, and the request for staff society members to opt for an online access subscription.

The authors discuss some important issues to consider concerning cystic fibrosis (CF), including pathophysiology, clinical manifestations, and morbidity and mortality. Topics covered include the phenotypic features consistent with a diagnosis of CF, the defect in the function of the CF transmembrane conductance regulator protein, and mortality in childhood in low-income countries.

Pulmonary manifestations are seldom recognized as symptoms of storage disorders. The report describes the diagnostic journey in a 30-month-old male infant, born of a third-degree consanguineous marriage referred to our institute as severe persistent asthma. History revealed that the child had progressively worsening breathlessness and persistent dry cough not associated with fever but accompanied by weight loss. On physical examination, there was growth failure, respiratory distress, clubbing, hepatosplenomegaly, and occasional rhonchi. Blood gas revealed hypoxemia which improved with oxygen administration. Plain X-rays and high-resolution computed tomography of the chest showed perihilar alveolar infiltrates and patchy consolidation. The clinicoradiological features did not support a diagnosis of asthma but favored interstitial lung disease (ILD). Bronchoalveolar lavage was performed as a first-tier investigation. It showed periodic acid-Schiff-negative foamy macrophages. The clues of consanguinity, visceromegaly, ILD, and foamy macrophages in the bronchoalveolar fluid prompted consideration of lysosomal storage disorders as the likely etiology. Gaucher disease and Niemann-Pick disease A/B were ruled out by enzyme estimation. Niemann-Pick disease type C was suspected and confirmed by detecting a homozygous mutation in the NPC2 gene. This case serves to caution physicians against labeling breathlessness in every toddler as asthma. It emphasizes the importance of searching for tell-tale signs such as clubbing and extrapulmonary clues which point to a systemic disease such as lysosomal storage disorders as a primary etiology of chronic respiratory symptoms. [ABSTRACT FROM AUTHOR]

The article provides updates on issues related to generic drugs in India as of April 2019. Topics covered include the enactment of The Drug Price Competition and Patent Term Restoration Act on September 24, 1984 in the 98th U.S. Congress, the launch of Jan Aushadhi initiative by the Department of Pharmaceuticals in 2008, and amendment of Rule 65 (11A) of the Drugs and Cosmetics Act considered by the Drugs Technical Advisory Board of India in May 2016.