Thanatophoric dysplasia type 1 (TD1): a case report

Thanatophoric Dysplasia (TD) is a severe short-limb dwarfism syndrome that is usually lethal in the perinatal period. It is characterized by shortening of the limbs, severely small thorax, large head with a prominent forehead, macrocephaly, curved femur, and flattened vertebral bodies. Thanatophoric dysplasia is divided into 2 clinically defined subtypes: thanatophoric dysplasia type 1 & type 2 (TD1 & TD2). We report this case because of its rarity with review of literature

Large facial congenital melanocytic nevus: a case report

Congenital nevi are hyperpigmented macular lesions that are derivatives of the melanoblasts. Crude incidence estimates suggest that approximately 1 in 20 000 are born with a large CMN and 1 in 500 000 are born with a very large (giant) CMN. They occur in less than 1% of the neonates in any site of the body. The giant congenital nevus is greater than 20 cm in size, pigmented and often hairy. We report a classical case of large congenital melanocytic nevus present over face. The case report is being presented because of its rarity

Pregnancy with uncorrected tetralogy of Fallot: a case report

Tetralogy of Fallot (TOF) is the commonest form of cyanotic congenital heart disease, with overall incidence accounting for 10% of all congenital heart disease. Natural survival into the fourth decade is extremely rare (only about 3%). After corrective surgery, the life expectancy has increased, so increasing number of women with cyanotic congenital heart disease with pregnancy are coming to hospitals, thereby imposing a great challenge to obstetricians. We have discussed below a rare case of pregnancy with uncorrected TOF in a 24 year old woman.

Perception of fever and management practices by parents of pediatric patients

Background: The febrile child is a common pediatric presentation in both primary care and the emergency department. An assessment of parents’ perception to recognize fever in their child, as well as management practices was the focus of this study.Methods: The study was done prospectively in which interviews were taken by researchers. One hundred and sixty four parents, whose children were less than 14 years old, had fever as one of the presenting complaints and admitted in pediatric department of  Rama medical college & research center, Kanpur, were included in this study.Results: Majority of the parents 114 (69.51%) managed the fever initially at home. Only a few parents (17.07%) correctly managed the fever by taking their children to hospital or to a qualified practitioner, rest of the parents primarily rely on local medical store or unqualified practitioner. Conclusion: Parents need to be educated, when they consult health facilities especially during vaccination visits. Decreased appetite was the most common presenting complaint along with fever in children and it should be taken as a significant factor during health education of fever for early and appropriate consultation

Mapping local patterns of childhood overweight and wasting in low- and middle-income countries between 2000 and 2017

A double burden of malnutrition occurs when individuals, household members or communities experience both undernutrition and overweight. Here, we show geospatial estimates of overweight and wasting prevalence among children under 5 years of age in 105 low- and middle-income countries (LMICs) from 2000 to 2017 and aggregate these to policy-relevant administrative units. Wasting decreased overall across LMICs between 2000 and 2017, from 8.4% (62.3 (55.1–70.8) million) to 6.4% (58.3 (47.6–70.7) million), but is predicted to remain above the World Health Organization’s Global Nutrition Target of <5% in over half of LMICs by 2025. Prevalence of overweight increased from 5.2% (30 (22.8–38.5) million) in 2000 to 6.0% (55.5 (44.8–67.9) million) children aged under 5 years in 2017. Areas most affected by double burden of malnutrition were located in Indonesia, Thailand, southeastern China, Botswana, Cameroon and central Nigeria. Our estimates provide a new perspective to researchers, policy makers and public health agencies in their efforts to address this global childhood syndemic

Global burden of 288 causes of death and life expectancy decomposition in 204 countries and territories and 811 subnational locations, 1990–2021: a systematic analysis for the Global Burden of Disease Study 2021

BACKGROUND Regular, detailed reporting on population health by underlying cause of death is fundamental for public health decision making. Cause-specific estimates of mortality and the subsequent effects on life expectancy worldwide are valuable metrics to gauge progress in reducing mortality rates. These estimates are particularly important following large-scale mortality spikes, such as the COVID-19 pandemic. When systematically analysed, mortality rates and life expectancy allow comparisons of the consequences of causes of death globally and over time, providing a nuanced understanding of the effect of these causes on global populations. METHODS The Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2021 cause-of-death analysis estimated mortality and years of life lost (YLLs) from 288 causes of death by age-sex-location-year in 204 countries and territories and 811 subnational locations for each year from 1990 until 2021. The analysis used 56 604 data sources, including data from vital registration and verbal autopsy as well as surveys, censuses, surveillance systems, and cancer registries, among others. As with previous GBD rounds, cause-specific death rates for most causes were estimated using the Cause of Death Ensemble model-a modelling tool developed for GBD to assess the out-of-sample predictive validity of different statistical models and covariate permutations and combine those results to produce cause-specific mortality estimates-with alternative strategies adapted to model causes with insufficient data, substantial changes in reporting over the study period, or unusual epidemiology. YLLs were computed as the product of the number of deaths for each cause-age-sex-location-year and the standard life expectancy at each age. As part of the modelling process, uncertainty intervals (UIs) were generated using the 2·5th and 97·5th percentiles from a 1000-draw distribution for each metric. We decomposed life expectancy by cause of death, location, and year to show cause-specific effects on life expectancy from 1990 to 2021. We also used the coefficient of variation and the fraction of population affected by 90% of deaths to highlight concentrations of mortality. Findings are reported in counts and age-standardised rates. Methodological improvements for cause-of-death estimates in GBD 2021 include the expansion of under-5-years age group to include four new age groups, enhanced methods to account for stochastic variation of sparse data, and the inclusion of COVID-19 and other pandemic-related mortality-which includes excess mortality associated with the pandemic, excluding COVID-19, lower respiratory infections, measles, malaria, and pertussis. For this analysis, 199 new country-years of vital registration cause-of-death data, 5 country-years of surveillance data, 21 country-years of verbal autopsy data, and 94 country-years of other data types were added to those used in previous GBD rounds. FINDINGS The leading causes of age-standardised deaths globally were the same in 2019 as they were in 1990; in descending order, these were, ischaemic heart disease, stroke, chronic obstructive pulmonary disease, and lower respiratory infections. In 2021, however, COVID-19 replaced stroke as the second-leading age-standardised cause of death, with 94·0 deaths (95% UI 89·2-100·0) per 100 000 population. The COVID-19 pandemic shifted the rankings of the leading five causes, lowering stroke to the third-leading and chronic obstructive pulmonary disease to the fourth-leading position. In 2021, the highest age-standardised death rates from COVID-19 occurred in sub-Saharan Africa (271·0 deaths [250·1-290·7] per 100 000 population) and Latin America and the Caribbean (195·4 deaths [182·1-211·4] per 100 000 population). The lowest age-standardised death rates from COVID-19 were in the high-income super-region (48·1 deaths [47·4-48·8] per 100 000 population) and southeast Asia, east Asia, and Oceania (23·2 deaths [16·3-37·2] per 100 000 population). Globally, life expectancy steadily improved between 1990 and 2019 for 18 of the 22 investigated causes. Decomposition of global and regional life expectancy showed the positive effect that reductions in deaths from enteric infections, lower respiratory infections, stroke, and neonatal deaths, among others have contributed to improved survival over the study period. However, a net reduction of 1·6 years occurred in global life expectancy between 2019 and 2021, primarily due to increased death rates from COVID-19 and other pandemic-related mortality. Life expectancy was highly variable between super-regions over the study period, with southeast Asia, east Asia, and Oceania gaining 8·3 years (6·7-9·9) overall, while having the smallest reduction in life expectancy due to COVID-19 (0·4 years). The largest reduction in life expectancy due to COVID-19 occurred in Latin America and the Caribbean (3·6 years). Additionally, 53 of the 288 causes of death were highly concentrated in locations with less than 50% of the global population as of 2021, and these causes of death became progressively more concentrated since 1990, when only 44 causes showed this pattern. The concentration phenomenon is discussed heuristically with respect to enteric and lower respiratory infections, malaria, HIV/AIDS, neonatal disorders, tuberculosis, and measles. INTERPRETATION Long-standing gains in life expectancy and reductions in many of the leading causes of death have been disrupted by the COVID-19 pandemic, the adverse effects of which were spread unevenly among populations. Despite the pandemic, there has been continued progress in combatting several notable causes of death, leading to improved global life expectancy over the study period. Each of the seven GBD super-regions showed an overall improvement from 1990 and 2021, obscuring the negative effect in the years of the pandemic. Additionally, our findings regarding regional variation in causes of death driving increases in life expectancy hold clear policy utility. Analyses of shifting mortality trends reveal that several causes, once widespread globally, are now increasingly concentrated geographically. These changes in mortality concentration, alongside further investigation of changing risks, interventions, and relevant policy, present an important opportunity to deepen our understanding of mortality-reduction strategies. Examining patterns in mortality concentration might reveal areas where successful public health interventions have been implemented. Translating these successes to locations where certain causes of death remain entrenched can inform policies that work to improve life expectancy for people everywhere. FUNDING Bill & Melinda Gates Foundation

Giant hydronephrosis mimicking as gross ascites in a 6-year-old boy

Giant hydronephrotic kidney is a rare form of obstructive uropathy in children and adolescents. The congenital ureteropelvic junction obstruction is the most frequent cause. The CT scan is very important for the diagnosis. We report a 6-year-old boy with progressively increasing abdominal distension since birth. There were no associated urinary or gastrointestinal symptoms. He had bilateral hydronephosis with giant hydronephrosis over right side. The cystic mass occupied the right retroperitoneal space and crossed the midline

Split-hand/foot malformation type 1 with sensorineural hearing loss (SHFM1D): A case report

Split-hand/split-foot malformation (SHFM), also known as ectrodactyly is a rare genetic condition characterized by malformation of the limbs with median clefts of the hands and feet and aplasia/hypoplasia of the phalanges, metacarpals, and metatarsals. It has a prevalence of 1:10,000-1:90,000 worldwide. It can occur as an isolated malformation or in combination with other anomalies, such as tibial aplasia, craniofacial defects, genitourinary abnormalities, and deafness. SHFM is a rare congenital anomaly. When present as an isolated anomaly, it is usually inherited as an autosomal dominant form. We report a rare case of SHFM with sensorineural hearing loss

Poland syndrome

Poland′s syndrome is a rare congenital condition, characterized by the absence of the sternal or breastbone portion of the pectoralis major muscle, which may be associated with the absence of nearby musculoskeletal structures. We hereby report an 8-year-old boy with typical features of Poland syndrome, the first documented case from Uttar Pradesh, India