Waardenburg syndrome is an uncommon autosomal dominant or recessive disorder, distinguished by hypopigmentation of either skin or hairs or both, segmental, partial or complete heterochromia iridis or isohypochromia, hypertrichosis of eyebrow, synophrys, dystopia canthorum, broad and high nasal root and congenital deafness. The diagnostic criteria consist of major and minor criteria; major includes congenital sensorineural hearing loss, pigmentary abnormality in iris, segmental, partial or complete heterochromia iridis, isohypochromia, fore hair’s achromia, dystopia canthorum and affected first degree relative while minor criteria include congenital leukoderma, synophrys, broad and high nasal root, hypoplasia of nasal alae and premature graying of hair. Herein we report a case of two days old baby boy having uncommon pigmentation of hair and iris beside dystopia canthorum. He was diagnosed as a case of Waardenburg Syndrome type1 (WS1).
Objectives: The objective of this study was to take a look at main causes associated with highest neonatal morbidity and mortality in neonatal care unit of People’s medical college hospital Nawabshah. Study Design: Retrospective study. Period: January 2015 to December 2015. Setting: Paediatric medicine ward of People’s medical college hospital Nawabshah. Methods: The data collected included; sex, gestational age, postnatal age atadmission, weight at admission, main cause of admission, outcome, cause of death. Results: The number of neonates admitted in NICU was 2863 (14.4%) of the total admissions (19882) to the paediatric unit including neonatal unit during the study period. There were more males 1750 (61.9%) than females. Prematurity, neonatal sepsis and birth asphyxia were the most common morbidities (27.5%, 14.9% and 14.6%, respectively). The overall mortality was 21.93% (628 out of 2863 babies). The morbidities with the highest mortality were birth asphyxia 244(38.85%), neonatal sepsis and meningitis 77 (12.26%), and V.L.B.W (9.03%). Conclusion: Birth Asphyxia, neonatal sepsis and meningitis, and low birth weight were the major contributors in admission as well as mortality of newborns, depicting a lack of care and attention in antenatal duration and there is a major lack of training and retraining of birth attendants.
Aim: To determine the frequency of common clinical presentations in children with foreign body aspiration. Methodology: This cross sectional study was done during the period of March, 2017 to Feb, 2018 A total of 84 children with history of foreign body aspiration were included. The data was entered in the proforma which includes history and the common presentation. The study was approved by ethical review board of PUMHSW. Written informed consent was taken from parents/guardian of all participants. Results: The average age of the children was 3.2±1.69 years. There were 52(61.9%) male and 32(38.1%) were female. Frequency of common clinical presentation was repeated attacks of cough 64.3%, respiratory distress 64.3% followed by sudden onset of choking 54.8%, non-responsive to treatment 34.5%, cyanosis 11.9% and with decrease air way breath sound in right and left as well as bilateral lung was 44%, 23.8% and 16.7& respectively. 46.4% had right, 22.6% left and 25% bilateral hyperinflation similarly 17.95 right, 15.5% left lung were collapse. Conclusion: Beetle nut as foreign body inhalation is more common in children. Repeated attacks of cough, respiratory distress, and chocking are the commonest symptoms. FBA should be kept in differential diagnosis of persistent cough in children.
Introduction: Phototherapy is the treatment of choice for neonatal hyperbilirubinemia. It converts the unconjugated bilirubin from polar and neurotoxic Z-Z-bilirubin to the more polar photobilirubin. It has been hypothesized that high level of hemoglobin or hematocrit interferes in the effectiveness of phototherapy. The objective of the current study is to find out the association of hemoglobin/hematocrit to change in total serum bilirubin concentration during phototherapy. Methods: A prospective cohort study was conducted on 296 neonates with uncomplicated hyperbilirubinemia. Before initiating the phototherapy, hemoglobin, hematocrit and total serum bilirubin levels were measured. After treating the neonates with phototherapy using LED-light for 24 hours, the total serum bilirubin level was measured again. The data were analyzed by using SPSS version-20. Results: The majority of study participants were male (60.8%), with mean postnatal age of 4.66 ± 1.65, having mean birth weight of 2.41 ± 0.41. Considering Pearson correlation, the hemoglobin had a significant inverse association with ΔTsB 0-24 while birth weight and postnatal age also had inverse association but p-values were non-significant, while TsB 0 had presented a very weak but significant positive association. The results might be evident of the fact that increase in hemoglobin concentration results in minimal change in total serum bilirubin concentration during phototherapy. Conclusion: Current study found a significant effect of hemoglobin on efficacy of phototherapy, as the change in total serum bilirubin concentration is inversely correlated with the level of hemoglobin. This is important for the physician in treating neonates with hyperbilirubinemia by using phototherapy.
Objective: This study was aimed to see the significance of Lactoferrin in human breast milk among lactating mothers of healthyand sick babies. Place and duration: This study was conducted at pathology and paediatrics departments of Peoples University of Medical andHealth Sciences Nawabshah, Shaheed Benazirabad between Jan 2011 to Dec 2011. Design: Cross sectional study. Method: Lactoferrinlevels in breast milk of 356 mothers of healthy babies were estimated and similarly lactoferrin levels in breast milk of 318 lactating mothers ofsick babies were estimated & these results were analyzed. Results: the mean lactoferrin level in breast milk of 356 lactating mothers of healthybabies was 9.37 mg/ml and the mean lactoferrin level in breast milk of 318 mothers nursing sick babies was 3.73mg/ml. Conclusions: There isdecrease in lactoferrin levels of lactating mothers of sick babies in their mature milk, which could account for the susceptibility of their babies toinfection.
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