27 research outputs found
Speech and Language Characteristics in Kabuki Syndrome
The aim of this study was to delineate the language difficulties in Kabuki Syndrome. At presentation, the child with Kabuki Syndrome had waddling gait, dolicocephaly, and frontal bossing. On administering an Indian standardized test (Linguistic Profile Test), different aspects of spontaneous language production were analysed. Receptive language skills were within normal limits, but expressive language skills showed deficits in semantic and syntactic areas. Articulation errors appeared mainly due to poor oral-motor coordination and hypotonia. A dull flat pattern of speech was characteristic to the child
Recommended from our members
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
Irreversible laryngeal palsy: An induced complication of carboplatin 450mg/m2 and paclitaxel 250mg/m2 - Case report
Introduction: Unilateral vocal cord paralysis is common than bilateral palsy and is mostly idiopathic in origin. Other causes may include malignancy, secondary to neck or recurrent laryngeal nerve trauma, intubation or secondary to surgery however, taxanes induces paresis which can lead to paralysis following paresis of larynx. Case summary: A female patient presented with cancer of cervix (Endometrium) and developed vocal cord paralysis after completion of five cycles of treatment with injections paclitaxel 250mg/m2 and carboplatin 450mg/m2. Patient's stroboscopic examination, electromyography (EMG) confined that one vocal cord lateralized in paramedian position. Voice analysis revealed low pitch and loudness and with breathy quality. Discussion: The vocal cord paralysis was believed to have occurred due to neurotoxic effect of carboplatin and paclitaxel, as an added complication of these drugs. Carboplatin and paclitaxel above than cumulative dose can induce bilateral or unilateral vocal cord paresis or sometimes paralysis also. The concurrent amount of dose used of carboplatin and paclitaxel might have contributed to this illness in patient
Parkinsonism following Bee Sting: A Case Report
We are reporting here a rare case of Parkinsonism (Hypokinetic dysarthria) caused after a bee stung, a member of the hymenoptera order. The main aim of this report is to orient the clinicians with the possibility of extrapyramidal syndromes because of hymenoptera stings
Giant Bilateral Calvarial Hyperostosis Secondary to Small Unilateral Frontal Meningioma
A 28-year-old male patient presented to us with bilateral frontal hyperostosis associated with a small unilateral frontal intracranial meningioma. He underwent successful excision of the involved bone and repair of the large cranial defect using a titanium mesh. Histological examination revealed tumor infiltration of the overlying bone. Surgical challenges in the management of such a case are also discussed
THE SITE OF AIRWAY OBSTRUCTION AMONG PATIENTS OF EMPHYSEMA: ROLE OF IMPULSE OSCILLOMETRY
Assessment of noise pollution in and around a sensitive zone in North India and its non-auditory impacts
AbstractNoise pollution in hospitals is recognized as a serious health hazard. Considering this, the current study aimed to map the noise pollution levels and to explore the self reported non-auditory effects of noise in a tertiary medical institute. The study was conducted in an 1800-bedded tertiary hospital where 27 sites (outdoor, indoor, road side and residential areas) were monitored for exposure to noise using Sound Level Meter for 24h. A detailed noise survey was also conducted around the sampling sites using a structured questionnaire to understand the opinion of the public regarding the impact of noise on their daily lives. The equivalent sound pressure level (Leq) was found higher than the permissible limits at all the sites both during daytime and night. The maximum equivalent sound pressure level (Lmax) during the day was observed higher (>80dB) at the emergency and around the main entrance of the hospital campus. Almost all the respondents (97%) regarded traffic as the major source of noise. About three-fourths (74%) reported irritation with loud noise whereas 40% of respondents reported headache due to noise. Less than one-third of respondents (29%) reported loss of sleep due to noise and 8% reported hypertension, which could be related to the disturbance caused due to noise. Noise levels in and around the hospital was well above the permissible standards. The recent Global Burden of Disease highlights the increasing risk of non communicable diseases. The non-auditory effects studied in the current work add to the risk factors associated with non communicable diseases. Hence, there is need to address the issue of noise pollution and associated health risks specially for vulnerable population
Original Article Section: Orthopaedics Recombinant Human Bone Morphogenic Protein-2 (BMP- 2): A Newer & Novel Osteoinductive Treatment Modality for Non-union of Bones
ABSTRACT Background: The non-union of bones is a multifactorial phenomenon. In this study, it was emphasized to evaluate the efficacy and safety of bone morphogenetic protein-2 (BMP-2) as a bone-stimulating agent in the treatment of non-unions. Methods: Fifteen patients [5 males, mean age 51.06 years (range: 21-75)] with sixteen non-unions were treated with BMP-2. There were eleven femoral non-union, three humerus, one ulna, one distal fibula non-union. The mean follow-up was 22.06 months. Results: Both clinical and radiological union occurred in 15 (93.75%) non unions cases. Radiological union achieved within a mean time of 15.75 weeks. The remaining one show incomplete union with recalcitrant formation was asymptomatic and having good pain free range of movement, declines further intervention. No complications or adverse effects from the use of BMP-2 were encountered. Conclusion: In this study, it was observed that BMP-2 is a powerful adjunct and one of the safe armamentarium for the surgeon to handle difficult and challenging clinical conditions