Background: Consanguinity is prevalent in India, which is one of the high-risk factors for increased risk of single gene diseases. Global developmental delay is heterogeneous group of genetic diseases which includes chromosomal and single gene diseases. The aim of the study is to determine impact of consanguinity on these 2 groups of diseases.Methods: A retrospective review of children coming to genetic OPD with global developmental delay (GDD) and children who were proven inborn errors of metabolism (IEM) was done. Presence of consanguinity or its absence was noted in all the children in both groups.Results: Out of 194 cases visited to genetic OPD, 103 (54%) of the patients were product of consanguineous marriage and 91 (46%) were product of non-consanguineous marriage. Out of 103 cases born of consanguineous marriage, 59 (57.3%) were GDD and out of 91 children who were born of non-consanguineous, 70 (68.35%) were having GDD. The difference was statistically significant with p value of 0.003. Out of 103 cases which were product of consanguineous marriage 44 (42.7%) were IEMs and out of 91 children who were product of non-consanguineous, 21 (23%) were having IEMs. The difference was statistically significant with p value of 0.004.Conclusions: Genetic drift or founder mutations need to be considered in Indian communities, where small sub-communities are genetically isolated pools and can have distinct genetic diseases belonging to particular communities not having impacted by consanguinity. Consanguinity increases risk of autosomal recessive diseases like inborn errors of metabolism.
BackgroundThe prevalence of tuberculosis (TB) disease among household contacts of adult TB patients is very high. Contact screening and isoniazid preventive therapy (IPT) are recommended for household contacts, but their uptake by families and implementation by the national TB program are poor. This study was performed to estimate the yield of tuberculosis disease, risk factors associated with disease development, and coverage of IPT in household contacts of sputum-positive pulmonary tuberculosis patients in the Aurangabad district of Maharashtra. MethodsA cross-sectional study was conducted at MGM Medical College Hospital Aurangabad. Sputum-positive adult TB patients were enrolled in the study. Their household contacts were screened for TB disease, and the status of IPT in eligible contacts was studied. Serial screening and follow-up of these contacts were performed for one year. ResultsA total of 82 contacts of 55 index cases were studied. At the one-year follow-up, 15 (18%) patients developed TB disease. Twelve had pulmonary TB, and three had extrapulmonary TB. The mean age of diseased contacts was 5.5 years. The disease was more common in contacts under six years of age. Sixtyfour percent of eligible contacts received IPT. There was a statistically significant association between disease development and noncompliance with IPT (p-value 0.005913). ConclusionsThe yield of tuberculosis disease is high in children contacts with sputum-positive pulmonary TB cases. IPT implementation is inadequate in child contact.
Background Kidney size determination and sonographic follow-up are important in clinical diagnosis and treatment in children. Various anthropometric measurements are correlated with gestational age and birth weight and are used to identify high-risk babies in need of early interventions. Although foot length has emerged as a simple and reliable anthropometric measurement, it is not correlated with kidney size, except in the fetal period. This study was undertaken to find a correlation between foot length and kidney dimensions and estimate kidney size by finding regression equations in newborns. Methods We conducted a cross-sectional study and 216 newborns were enrolled at a tertiary care hospital. Foot length was measured by digital Vernier calipers and kidney dimensions were measured by ultrasonography. The Pearson correlation coefficient and simple linear regression tests were used to determine the relationship between foot length and kidney dimensions. Results Foot lengths and kidney dimensions were comparable in males and females as well as on the right and left sides, except for kidney length, which was found to be longer in males. Both right and left foot lengths showed highly significant (p<0.001) but small, positive correlations with corresponding side kidney length, breadth, and area, with R-values ranging from 0.2874 to 0.3668. However, the correlation between birth weight and foot length was significant, positive, and moderate (r=0.6962 and 0.6923 for right and left foot lengths, respectively). The regression equation for estimation of kidney size from foot length was obtained but the variance explained was small (e.g. R 2 =0.1325 for right kidney length). Out of 216 babies in our study, 10 babies had a renal anomaly. Conclusions We found a significant but small, positive correlation between foot length and kidney dimensions. Only 13.25% of the variance in kidney length was associated with foot length. Birth weight also had a significant and positive but small correlation with kidney dimensions. However, the correlation of birth weight with foot length was moderate, and a 57.14% variance in foot length was associated with birth weight. Multivariate regression analysis with more anthropometric parameters and gestational age may help in finding a better estimation of kidney size.
BackgroundGlobal developmental delay (GDD) is common and has a significant impact on affected children, families, and society. Understanding its etiology is crucial for management and prevention strategies. However, data on the etiological profile of GDD in developing countries are limited. This study aimed to identify the etiological profile of GDD at a tertiary care hospital in India. MethodologyThis observational study included children aged three months to five years with a developmental quotient below 70%. Data on demographics, clinical features, relevant investigations, and diagnoses were collected. Etiologies were categorized into prenatal, perinatal, postnatal, and unknown causes. Informed consent was obtained from the parents. ResultsA total of 52 children, with a median age of 15.5 months, were included in the study, with 69.2% being males. Prenatal causes accounted for half of the cases, with genetic abnormalities (32.7%) and chromosomal abnormalities (7.7%) being prominent. Perinatal causes were the next most common (34.6%), including hypoxic-ischemic encephalopathy (26.7%). Postnatal causes were rare (3.8%). The overall etiological yield was 88.4%, with some cases remaining unidentified. ConclusionsPrenatal causes, including genetic and chromosomal abnormalities, are common in GDD. The utilization of genetic testing enhances etiological yield. Hypoxic-ischemic encephalopathy remains a significant factor and highlights the importance of perinatal care in preventing developmental delays. Large multicentric studies are needed for a comprehensive database of etiological profiles.
IntroductionFever is the most common presenting symptom in children and causes distress in patients and parents. Although nonsteroidal anti-inflammatory drugs (NSAIDs) are commonly used as antipyretics, they should be reserved for pain or chronic inflammatory conditions due to safety concerns. If we can safely achieve the same antipyretic effect using a higher dose (20 mg/kg) of paracetamol, NSAIDs may be avoided for treating fever. There is a paucity of literature comparing the antipyretic effect of mefenamic acid and high-dose paracetamol. We hypothesized that there would be no difference in the antipyretic effect of high-dose paracetamol and mefenamic acid. MethodsIn this randomized control trial, 165 febrile children were randomly allocated to one of the following three groups: standard-dose (15 mg/kg) paracetamol (SDPCM) as the control group and high-dose (20 mg/kg) paracetamol (HDPCM) and mefenamic acid (6 mg/kg) (MFN) as the intervention groups. The temperature was measured using a digital thermometer at the start of drug dosage and every 15 minutes until it reached normal. One-way between-group analysis of variance (ANOVA) was used to compare outcome measures such as time for temperature to reach normal, fall of temperature in 60 minutes, and time for the next fever. Post hoc analysis was performed to compare mean differences. Patients were monitored for adverse effects. ResultsOut of 165 enrolled patients, 159 were analyzed. The baseline demographic data were comparable among the groups. There was a statistically significant difference in the mean time taken for the temperature to reach normal (F-value (F) (2,156)=3.184, p<0.05) and the mean reduction in temperature at 60 minutes (F (2,156)=23.40, p<0.001) among the groups. The mean time for temperature to reach normal in the SDPCM group (97.50±26.60 minutes) was longer than that in the HDPCM (85.09±31.43 minutes) and MFN (84.90±30.42 minutes) groups. The decrease in temperature over 60 minutes was greater in the HDPCM (0.46°C±0.19°C) and MFN (0.45°C±0.11°C) groups than in the SDPCM (0.33°C±0.10°C) group. The time to the next fever spike was shorter for the SDPCM group (5.07±2.66 hours) than for the HDPCM (7.20±3.08 hours) and MFN (8.82±3.83 hours) groups. Post hoc analysis demonstrated that high-dose paracetamol and mefenamic acid had similar and faster antipyretic effects than standard-dose paracetamol. Although the duration of action was found to be longer in the mefenamic acid group, the difference was not statistically significant. There were negligible adverse effects in the groups. ConclusionStandard-dose paracetamol (15 mg/kg/dose) had a slower and shorter antipyretic effect than high-dose paracetamol (20 mg/kg/dose) and mefenamic acid (6 mg/kg/dose). A single dose of high-dose paracetamol was safe and had a similar antipyretic effect as mefenamic acid. Mefenamic acid may be avoided as an antipyretic and spared for pain and anti-inflammatory indications. Multicentered double-blind clinical trials with larger sample sizes and comparisons of other ...
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