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.

A relation between serum albumin level and prognosis of critically ill children admitted to the paediatric Intensive Care Unit.

OBJECTIVE: To determine the frequency of hypoalbuminaemia in critically ill children, and to assess the association of low serum albumin with clinical deterioration and outcome. METHODS: The prospective, descriptive study was conducted from September 1, 2020, to October 31, 2021, at the National Institute of Child Health, Karachi, and comprised critically ill children of either gender aged between 3 months and 16 years admitted to the paediatric intensive care unit. Serum albumin values were documented at 2 hours post-admission and at 24 hours. Paediatric Index of Mortality 2 score, Vasoactive Inotropic Score, and Paediatric Sequential Organ Failure Assessment scores were calculated. Hypoalbuminaemia was defined as serum albumin ≤3.3gdl. Data was analysed using SPSS 27. Results: Of the 110 patients, 70(63.6%) were boys and 40(36.4%) were girls. The overall mean age was 46.72±43.28 months. Hypoalbuminaemia at 24 hours was found in 74(67.3%) subjects compared to 60(54.5%) at 2 hours, and mean serum albumin was lower at 24 hours compared to 2 hours post-admission (p<0.05). Patients with hypoalbuminaemia had significant relation with Paediatric Index of Mortality 2 score, Vasoactive Inotropic Score, Paediatric Sequential Organ Failure Assessment score, and outcome (p<0.05). The risk of mortality was 4.1 times higher in patients with hypoalbuminaemia (p=0.001). CONCLUSIONS: The incidence of hypoalbuminaemia was found to be higher in children in intensive care settings, and hypoalbuminaemia was a significant independent predictor of mortality in a critically ill child.

OCCURRENCE OF UNUSUAL HAEMOGLOBINOPATHIES IN BALOCHISTAN: HB SD AND HB SE - PRESENTATION WITH OSTEOMYELITIS.

OBJECTIVE: To describe two cases of unusual variants of sickle cell disease. CASE DESCRIPTION: We present two cases of sickle cell disease variants (haemoglobinopathies), from unrelated families, in the state of Balochistan (Pakistan). One was diagnosed with sickle cell disease in the haemoglobin electrophoresis, whereas the other was diagnosed with sickle cell SE disease. Both were diagnosed based on the presentation of osteomyelitis. COMMENTS: Haemoglobin SD disease (Hb SD) and haemoglobin SE disease (Hb SE) are rare haemoglobinopathies in the world. The lack of available literature suggests that both are variants of sickle cell disease (SCD), with heterogeneous nature. The prevalence of sickle cell disease with compound heterozygotes was found at a variable frequency in the population of the Asian Southeast. The frequency of osteomyelitis in SCD is 12 to 18%, but its occurrence among variant haemoglobinopathies is little reported. Both reported cases presented with osteomyelitis as a characteristic of the disease presentation.

Occurrence of unusual haemoglobinopathies in balochistan: hb sd and hb se - presentation with osteomyelitis / Ocorrência de hemoglobinopatias incomuns no baluchistão: hb sd e hb se - apresentação com osteomielite

ABSTRACT Objective: To describe two cases of unusual variants of sickle cell disease. Case description: We present two cases of sickle cell disease variants (haemoglobinopathies), from unrelated families, in the state of Balochistan (Pakistan). One was diagnosed with sickle cell disease in the haemoglobin electrophoresis, whereas the other was diagnosed with sickle cell SE disease. Both were diagnosed based on the presentation of osteomyelitis. Comments: Haemoglobin SD disease (Hb SD) and haemoglobin SE disease (Hb SE) are rare haemoglobinopathies in the world. The lack of available literature suggests that both are variants of sickle cell disease (SCD), with heterogeneous nature. The prevalence of sickle cell disease with compound heterozygotes was found at a variable frequency in the population of the Asian Southeast. The frequency of osteomyelitis in SCD is 12 to 18%, but its occurrence among variant haemoglobinopathies is little reported. Both reported cases presented with osteomyelitis as a characteristic of the disease presentation.

RESUMO Objetivo: Descrever dois casos de variantes raras da hemoglobinopatia falciforme. Descrição do caso: Apresentamos aqui dois casos de hemoglobinopatias variantes das células falciformes, de famílias não relacionadas, no estado do Baluchistão (Paquistão), sendo um diagnosticado como doença da hemoglobina SD na eletroforese de hemoglobina, enquanto o outro com doença da hemoglobina SE. Ambos foram diagnosticados a partir da apresentação de osteomielite. Comentários: Hemoglobina SD (Hb SD) e hemoglobina SE (Hb SE) são hemoglobinopatias raras no mundo. A escassez de literatura disponível sugere que ambas são variantes da doença falciforme (DF) com natureza heterogênea. A prevalência de hemoglobinopatia falciforme com heterozigosidade composta foi encontrada com frequência variável na população do sudeste asiático. A frequência de osteomielite na DF é de 12 a 18%, mas sua ocorrência entre as hemoglobinopatias falciformes variantes é pouco relatada. Os dois casos reportados apresentaram osteomielite como característica de apresentação da doença.