Preference of the patient's family for family-centred care in a paediatric hospital.

Objective: To explore the dimensions of family-centred care preferred by families of paediatric inpatients in a public healthcare setting. METHODS: The qualitative study was conducted at the National Institute of Child Health, Karachi, from October 2021 to August 2022, and comprised family members of the hospitalised children. Data was collected through three focus group discussions that were guided by a semi-structured questionnaire. Using the five-step Fereday and Muir-Cochrane guidelines, data was coded and subjected to thematic analysis. RESULTS: Of the 21 subjects, 13(62%) were males and 8(38%) were females. The overall mean age was 32.24±7.58 years (range: 18-50 years). In terms of relationship with the patient, 9(43%) were fathers and 6(28.6%) were mothers. Each focus group discussion had 7(33.3%) subjects. Thematic analysis showed that the participants perceived family-centred care positively. Eight categories emerged depicting family perception and experience of family-centred care in a tertiary-care setting. Conclusion: The participants perceived family-centred care respectful and empathic towards patients' families, making them integral care team members.

Precipitating Factors and Outcome of Diabetic Ketoacidosis among Children and Adolescents with Type-1 Diabetes Mellitus.

OBJECTIVE: To determine the precipitating factors and outcomes of diabetic ketoacidosis (DKA) among patients with type 1 diabetes mellitus. STUDY DESIGN: An analytical study. Place and Duration of the Study: Department of Paediatrics, National Institute of Child Health, Karachi, Pakistan, from July to December 2022. METHODOLOGY: Children of either gender aged up to 18 years and presenting with DKA with a known diagnosis of type-1 diabetes were enrolled. Demographic, clinical, and anthropometric characteristics of all children were noted. Laboratory investigations were sent to the institutional laboratory. Presenting features, precipitating factors, severity of DKA, and outcomes noted. RESULTS: Among 131 children, 101 (77.1%) were girls. The socio-economic status of 75 (57.3%) patients was the lower middle. Celiac disease was the commonest associated disease noted in 23 (17.6%) patients. A total of 123 (93.9%) children were using basal plus bolus types. Adherence to diabetes-related drug therapy was seen in 105 (80.2%) patients. At the time of presentation, vomiting, fever, abdominal pain, and respiratory distress were the most frequent presenting features reported in 77 (58.8%), 67 (51.1%), 42 (32.1%), and 34 (26.0%) patients, respectively. The most common precipitating factors for DKA were infection/illness (n=90, 68.7%) and missed insulin dose (n=16, 12.2%); no cause was identified in 25 (19.1%) patients. The mean duration of hospital stay was 5.25±2.4 days. Four patients could not survive. CONCLUSION: The most common precipitating factor for the current episode of DKA were infection or illness, or missed insulin dose. Vomiting, fever, abdominal pain, and respiratory distress were the most frequent presenting features. In-hospital mortality was found to be 3% in DKA patients. KEY WORDS: Diabetic ketoacidosis, Type-1 diabetes mellitus, Insulin, Vomiting, Abdominal pain.

Safety and Efficacy of Zoledronic Acid in children with Osteogenesis Imperfecta.

OBJECTIVE: To evaluate the efficacy and safety of zoledronic acid in children with osteogenesis imperfecta (OI). STUDY DESIGN: Descriptive Study. PLACE AND DURATION OF STUDY: National Institute of Child Health, Department of Endocrine and Diabetes, Karachi, Pakistan, from January 2011 to December 2020. METHODOLOGY: Children, with OI registered for the treatment, were included. Zoledronic acid was given to them by intravenous infusion over 30 minutes with a dose of 0.05 mg/Kg/day for a median duration of 60 (24-96) months. To ensure safety, patients were kept for 24 hours after dose administration to monitor any short-term side effects. The patients were assessed after every 3-6 months for frequency of fracture, bone pain, and BMD. RESULT: Out of 82 children [40 females (48.8%) and 42 males (51.2%)], 11 patients (13.4%) had fever and 2 patients (2.4%) had flu-like illness. No other side effects were observed. The annual fracture rate decreased overall from 2.8±1.5 to 0.2±0.5 (˂0.001) in both males (2.6±1.3 to 0.1±0.4) and females (3.1±1.7 to 0.2±0.6). Z-score on DEXA scan showed improvement in BMD overall (-3.9±2.0 to 2.2 ±1.7), in males (-3.7±1.9 to -2.1±1.7) and in females (4.1±2.1 to -2.3±1.8). There were no other long-term side effects like ocular problems, osteonecrosis of the jaw, and delayed healing of the fractures. CONCLUSION: Zoledronate use in children is associated with minimal short-term and long-term side effects with a significant improvement in BMD and decline in fracture rate. KEY WORDS: Osteogenesis imperfecta (OI), Bisphosphonates (BPs), DEXA scan, Bone mineral density (BMD).

Comparison of Classical and Non-Classical Turner Syndrome at NICH Karachi.

OBJECTIVE: To analyse chromosomal abnormalities of the patients who were referred for the screening of short stature and delayed puberty and to verify the association between karyotype and phenotype in confirmed Turner Syndrome (TS) patients. STUDY DESIGN: Descriptive study. PLACE AND DURATION OF STUDY: Department of Pediatric Endocrinology and Diabetes Unit-II, National Institute of Child Health, Karachi, from January 2011 to June 2016. METHODOLOGY: Patients referred for the evaluation of short stature or delayed puberty were for the assessment of karyotype and phenotype correlations; standard karyotyping was executed and analysed on the basis of routine G-banding technique. Echocardiography and pelvic ultrasonography was also performed. RESULTS: The study population consisted of 79 registered patients, with short stature and delayed puberty 48/79 (60.75%), short stature 68/79 (86.07%), and ambiguous genitalia 5/79 (6.32%). Conferring to the karyotype analysis, classical Turner Syndrome 45, X was found in 42/79 (53.16%), isochromosomes 13/79 (16.45%), and mosaicism was present in 11/79 (14.1%). Only 7/79 (8.86%) cases were diagnosed in infancy. CONCLUSION: The results of the study showed the consistency of short stature and delayed puberty in most of patients. Monosomy of X chromosome was the commonest followed by isochromosomes, mosaicism and structural abnormalities of X chromosome. No remarkable difference was found among classical and non-classical TS patients' height.

Frequency, causes and outcome of neonates with respiratory distress admitted to Neonatal Intensive Care Unit, National Institute of Child Health, Karachi.

OBJECTIVE: To determine the frequency, aetiology and outcome of respiratory distress in neonates in intensive care unit. METHODS: The descriptive cross-sectional study was conducted at the Neonatal Intensive Care Unit, National Institute of Child Health, Karachi, from October 2009 to March 2010. It comprised neonates aged day 0 to 28 who were admitted to Neonatal Intensive Care Unit. The neonates were screened first for respiratory distress and presence of one or more signs and symptoms. History, examination and investigations were carried out to find out various aetiologies of respiratory distress. Outcome was measured in terms of discharge and death. Data was analysed using SPSS12. RESULTS: Of the 205 neonates in the study, 120(58.6%) were boys and 85(41.4%) were girls The overall mean age was 70.58±110.02 hours and the mean gestational age was 36.32±2.72 weeks while the mean weight was 2.41±2.4kg. Respiratory rate >60/min was found in all (100%) the neonates. In terms of signs and symptoms, 125(60.9%) had grunting, 205(100%) had subcostal retractions and nasal flaring, and 81(40%) had cyanosis. The aetiologies observed were birth asphyxia, sepsis, transient tachypnoea of the newborn, pneumonia, meconium aspiration syndrome and respiratory distress syndrome in 22(10.75%), 37(18.05%), 29(14.1%), 36(17.6%), 34(16.7%) and 47(23.0%) neonates respectively. The incidence of neonates with respiratory distress was 68(33.3%). CONCLUSIONS: The frequency of respiratory distress among the neonates was high, while mortality was high in neonates with respiratory distress, especially in pre-term and low birthweight neonates. Early diagnosis and management is important for better outcome.