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.

Mutation In Fkbp10 Gene Cause Bruck Syndrome 1 (Brks1) In A Pakistani Family Of Pashtun Origin.

BACKGROUND: Bruck syndrome or BRKS1 is an extremely rare condition characterized by the onset of fractures in infancy, joint contractures, short stature, severe limb deformity, and progressive scoliosis. Less than fifty cases of BRKS1 have been reported so far. Here, we report Bruck syndrome 1 in two siblings who belong to a consanguineous Pashtun family living in Karachi. Our first case is a seven years old boy who presented with recurrent fractures, lower limb deformity, and unable to walk. He had markedly reduced bone mineral density (BMD) and a normal bone profile. The other sibling presented at one week of age with arthrogryposis multiplex congenita, post-axial polydactyly of both feet and spontaneous fracture of the right proximal femur. Genetic testing of our cases was performed in which genomic DNA was enriched for targeted regions using the hybridization-based protocol, and DNA sequencing was done using Illumina technology; both cases were found homozygous for pathogenic variant c.344G>A (p.Arg115Gln) in FKBP10 gene leading to the diagnosis of BRKS1. FKBP10 gene mutation has been reported earlier in association with BRKS1, but in our case report, we have reported the first case of BRKS1, particularly in the Pakistani population of Pashtun ethnicity. We have reported post-axial polydactyly of both feet and spina bifida for the first time in association with FKBP10 mutation. In addition, the skeletal survey of patients with BRKS 1 is elaborated in detail in this report.

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.

Suspected Pediatric-Onset Common Variable Immune Deficiency (CVID) in a Seven-Year-Old Female With Pulmonary Manifestations.

Common variable immune deficiency (CVID) is the most common of all primary immunodeficiency rare diseases characterized by hypogammaglobulinemia. This is caused by the defective functioning of B-cells and T-cells, resulting in recurrent infections. Its etiology is unknown but most commonly initiated due to epigenetic factors and epistatic interactions. Moreover, it has a bimodal age distribution and can be more evident from infancy to after 4th decade of life. Herein, a seven-year-old female, the first product of consanguineous marriage with no family history of immunodeficiency disorders, presented predominantly with sinopulmonary involvement. It manifested as severe pulmonary pneumonia, atelectasis, patchy alveolar infiltrates, and lung nodules. She also had a history of diarrhea and otitis media. Despite having a history of recurrent infections since three years of age, she was diagnosed late due to a lack of awareness and knowledge about the presentation of CVID and its different manifestations among the medical community in Pakistan. The diagnosis of CVID is based on the clinical and immunological manifestation of the patient with respect to the European Society of Immune Deficiencies (ESID) diagnostic criteria. Therefore, genetics help detect mutations leading to CVID and establish a genetic diagnosis for CVID-like disorders. However, genetic panel testing is not used as a diagnostic tool in Pakistan due to the unavailability of resources. Instead, the clinical presentation, abnormal lymphocytic counts, and immunoglobulin levels may help diagnose CVID. Early diagnosis will help in the timely utilization of the most effective treatment and management options available. These include intravenous immunoglobulin (IVIG) and hematopoietic stem cell therapy. Ig replacement therapy has shown a beneficial role in halting the cycle of recurrent infections and improving the prognosis of CVID. However, it's a bit expensive therapy. Moreover, the role of hematopoietic stem cell therapy in treating CVID has been documented, but it's not so common and practical.