Thiamine-Responsive Megaloblastic Anaemia With Hypothyroidism, A Puzzling Association.

Background: Thiamine-responsive megaloblastic anaemia (TRMA) is characterized by the classic trio of diabetes mellitus, sensorineural hearing loss, and megaloblastic anaemia, typically emerging subtly between infancy and adolescence. Administration of high-dose thiamine often yields improvements in anaemia and occasionally in diabetes. Uncommon manifestations include optic atrophy, congenital heart defects, short stature, and stroke. In this specific case, a 5-year-old diagnosed with insulin-dependent diabetes mellitus (IDDM) since the age of one presented with symptoms such as polyuria, fever, and vomiting, revealing an HbA1c of 10.64. Further examinations disclosed compromised hearing and vision. A negative antibody workup and a thyroid profile indicating hypothyroidism prompted additional investigations, including Brainstem Evoked Response Audiometry (BERA) and retinal examination, confirming bilateral sensorineural hearing loss and maculopathy, respectively. A comprehensive blood count unveiled megaloblastic anaemia. Genetic profiling confirmed a homozygous mutation in the SLC19A2 gene, thus diagnosing TRMA. An early diagnosis, coupled with genetic confirmation, enables timely intervention, with patients responding positively to high-dose thiamine. Genetic counselling plays a pivotal role in enlightening families about the disease and its inheritance patterns, fostering awareness and understanding.

Frequency of Immediate Neonatal Complications (Hypoglycemia and Neonatal Jaundice) in Late Preterm and Term Neonates.

Background Evidence suggests that neonates born at 34-36 weeks should not be considered full-term neonates, given the magnitude of morbidities they experience compared with term infants. Neonates born at 34 to 36 weeks are at increased risk for early illness such as hypoglycemia and hyperbilirubinemia compared to term infants. Objective This study's objective was to determine the frequency of immediate neonatal complications (hypoglycemia and neonatal jaundice) in late preterm and term neonates. Subjects and methods A serial descriptive case study was conducted at the private tertiary care hospital. Random samplings were taken, and the sample size was calculated on Epi Info software (Centers for Disease Control and Prevention, Atlanta, GA). All the eligible samples were taken into confidence following approval by the College of Physicians and Surgeons Pakistan's institutional review board. A structured questionnaire was used in which demographic information of the patient was collected, and all neonates were closely observed for early targeted morbidities (hypoglycemia, hyperbilirubinemia) Results A total of 215 neonates were born during the study period, of whom 108 (50.2%) were term babies and 107 (49.8%) late preterm babies. There were 122 (56.7%) male infants and 93 (43.3%) female infants. Jaundice was observed in 6.5% (n=7) of term neonates and 22.4% (n=24) of late preterm neonates (p<0.0). Similarly, hypoglycemia was observed in only 4.6% (n=5) of term neonates and 15.9% (n=17) of late preterm neonates (p<0.01). Conclusion There is a significant association between gestational age and immediate neonatal complications of jaundice and hypoglycemia. Compared with term neonates, late preterm neonates are at a higher risk of neonatal jaundice and hypoglycemia. Gender and mode of delivery did not correlate to complications rate.

Frequency of Early-onset Neonatal Sepsis Following Prolonged Rupture of Membranes.

Introduction In developing countries, sepsis and associated mortality rates in neonatal patients is a serious concern. To improve the outcomes and mortality posed by sepsis, physicians need to know the local epidemiology of the microbial pathogens and their resistance patterns to antimicrobial agents. Therefore, our aim was to determine the frequency of early-onset neonatal sepsis (EONS) following prolonged rupture of membranes (PROM). Materials and methods After approval from the ethical review committee, this cross-sectional study was conducted at a tertiary care hospital of a developing country, and informed consent was taken from patients' parents. All neonates born to a mother with PROM after 24 weeks of gestation up to seven days of life were included. Demographic features, signs of sepsis, blood culture results, and laboratory markers of sepsis were recorded. All data were analyzed by using IBM SPSS Statistics for Windows, Version 20.0 (IBM Corp., Armonk, NY). Results A total of 124 patients were enrolled in the study. Seven neonates (5.6%) developed EONS and positive cultures were seen in four neonates (3.2%) with a maternal history of PROM. The organisms identified in cultures were Klebsiella pneumonia, group B streptococcus, Staphylococcus aureus, and Streptococcus species in EONS caused by prolonged PROM. Conclusions Early recognition of risk factors, recognition of clinical conditions with prompt laboratory screening for infection, and early establishment of empirical antibiotic treatment are effective preventive measures. Such approaches would be a secure and efficient strategy, particularly in developing countries.