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.

Correlation Of Glomerular Filtration Rate (Gfr) Estimation Formulae With Measured Gfr In Pediatric Oncology Patients.

Background: In patients with malignancy accurate assessment of renal function is important for administration of chemotherapeutic medicines. Measurement of GFR by inulin, EDTA clearance, iohexol and 24 hrs urinary creatinine clearance (Crcl) is cumbersome so creatinine based GFR formulas have been developed for assessment of kidney function and there are variety of GFR formulas available for clinical use. Objective was to determine the correlation of estimated GFR by creatinine-based estimation formulae with measured GFR by 24-hours creatinine clearance. Methods: A cross sectional study was conducted in which all patients who underwent measured GFR (mGFR) assessment at Oncology Unit of NICH between 1st January to 31st December 2019 were enrolled in the study. Estimated Glomerular filtration rate (eGFR) of all these patients was calculated by three formulae Original Schwartz (OS), Updated Schwartz (US) and simple height independent equation (SHID). Correlation was made with mGFR by Crcl taken as gold standard using Pearson's correlation and Linear regression analysis. Bland Altman analysis was also done to see the agreement between eGFR with mGFR. Results: Total sixty (60) patients were enrolled with mean age of 8.2±3.6 years. All three eGFR formulae exhibited a statistically significant positive correlation with mGFR (p-value <0.01). Linear regression analysis also showed a statistically significant relation between mGFR and eGFRs however, the developed regression models for all three formulae showed a low R2 values. Bland-altman analysis revealed that useful level of agreement does not exist between mGFR and eGFR by OS however, SHID and US were found to be in agreement with mGFR by Crcl. Conclusion: SHID and US equations give a good estimate of GFR and may be used in children with malignancies to estimate GFR.

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.

Tumor lysis syndrome in pediatric acute lymphoblastic leukemia at tertiary care center.

OBJECTIVES: Tumor lysis syndrome (TLS) is common complication of acute lymphoblastic leukemia (ALL). It is characterized by presence of two or more of hyperkalemia, hyperuricemia, hyperphosphatemia and hypocalcemia. TLS may cause acute kidney injury (AKI), arrhythmias and seizures. Our objective was to determine the frequency of TLS and its biochemical abnormalities in children with ALL. METHODS: A retrospective study on 91 children, aged 2-13 years with ALL was carried out in Nephrology and Oncology departments of National Institute of Child Health, Karachi from January 2016 to December 2017. Patients already received chemotherapy were excluded. Data including risk categories, immunophenotyping, laboratory parameters like complete blood picture, serum creatinine (SCr), potassium(K), calcium (Ca), phosphorus(P) and uric acid (UA) on day 0,3 and 7 after chemotherapy were collected. Data analyzed on SPSS using descriptive statistics. Independent t- test was applied to compare means and P- value<0.05 was taken as significant. RESULTS: Ninety-one children with mean age of 6.39±3.08 years were studied. Male were 57% and 43% female. High risk ALL were 61.5%. Pre -BALL were 82.4% and 17.5% had T-cell ALL. All patients had anemia (hemoglobin7.69±2.66 g/dl) and thrombocytopenia (43.61± 18.6 x109) where as hyperleukocytosis and blast cells were observed in 20.87% and 73.6% respectively. Comparing the biochemical parameters of ALL, the difference in SCr from D0 vs D3 (0.46±0.16 vs0.54± 0.35 and D7, 0.44±0.22) was significant (p=0.001). Similarly, difference in UA (D0, 4.12±2.40 vs D3, 3.82±1.73 and D7, 3.56±1.42), SP (D0, 4.24±1.34 vs D3, 4.61±1.76 and D7,4.13±1.07mg/dl)and for K (p=0.038) was significant. There was no difference in Ca from D0 vs D3 (0.092) and D7 (0.277). TLS was found in 62.6% children, it was chemotherapy induced in 72% and spontaneous in 28%. Clinical-TLS was observed in 14% and all CTLS had AKI. Hyperuricemia and hyperphosphatemia were the most common biochemical abnormalities in laboratory-TLS and CTLS. CONCLUSION: TLS was found in 62.6% despite preventive measures. Early recognition and treatment is essential to avoid morbidity and mortality.

Infantile Spasms: Clinical profile and treatment outcomes.

BACKGROUND AND OBJECTIVE: Infantile spasm (IS) is one of the severe epileptic encephalopathies which affect children in early two years of life. Our objective was to determine the clinical profile, etiology and outcome of treatment in children with infantile spasms attending tertiary care hospital at Karachi, Pakistan. METHODS: This is retrospective study of 36 patients out of 94 registered as IS, aged three months to two years, managed and followed up at Aga Khan University Hospital, Karachi, from 2010 to 2015. Data of all children with IS was collected from case record. Details including clinical observations, lab investigations, anti-epileptic medications and treatment outcome was collected and analyzed. Patients who received treatment for six weeks to document response were included. The treatment response was categorized as complete response, partial response (>50% improvement) and no response. Data was analyzed on SPSS using descriptive statistics. RESULTS: Thirty- six patients (38.29%) with IS fulfilled eligibility criteria. The mean ± SD age at presentation was 4.6±2.1 months. Male to female ratio was 2:1. Consanguinity and developmental motor delay was observed in 66.6% and 89% respectively. Symptomatic etiology was predominant (61%) and hypoxic ischemic insult (32%) was the commonest underlying cause. EEG and MRI were diagnostic tools whereas metabolic studies were not helpful. Multiple antiepileptic drugs were used for seizure control and vigabatrin was the most frequently used (88%) drug. Short term treatment response was not different in idiopathic or symptomatic infantile spasms. CONCLUSION: Majority of patients had symptomatic infantile spasms and generalized tonic clonic along with myoclonic jerks were predominant seizure types. EEG and MRI were diagnostic in most of cases. Multiple AEDs were required to control seizures and VGB was most common drug (88%) used. Treatment outcome was not different in idiopathic and symptomatic groups.

Comparison of three formulae for estimation of glomerular filtration rate in severely malnourished children at tertiary care facility.

OBJECTIVES: First objective was to compare eGFR by Updated Schwartz (US) and Simple Height Independent (SHID) formula with Original Schwartz (OS) in children with Severe Acute Malnutrition (SAM). The second objective was to compare eGFR in children below and above two years. METHODS: This analytic study on estimation of GFR was based on retrospective data collected from 78 children with SAM at Nutritional Rehabilitation Unit from October 2014 - March 2015. Glomerular filtration rate was calculated using serum creatinine (S. Cr) and height in Original Schwartz, US and by age in SHID equation and compared with OS as standard. Data was analyzed using descriptive statistics. RESULTS: There were 78 children in this study. Males were 39(50%). Mean age of patients was 18±15.53 months with 62(79.48%) ≤24 months. Mean weight, height and Mid Upper Arm Cir-cumference was 5.69±2.42kg, 68.52+13.59 cm and 10±1.57 cm respectively. Mean eGFR by OS, US and SHID formula was 71.45±49.89, 58.06±3.91 and 59.33±3.73ml/min/1.73m2 respectively. There was significant difference (0.001) in mean eGFR calculated by three different formulae. Majority of children (73%) had subnormal GFR (<90 ml/min /1.73 m2). There was a significant difference in GFR ≥90ml calculated by US compared to OS (0.025) and by SHID with OS (0.04) in children below two years and no difference in children above two years. But there was no difference in other categories of eGFR calculated by either of formula in both age groups. CONCLUSION: We found a significant difference in eGFR in ranges above 90 ml/min/1.73 m2 by US compared to OS as well as by SHID with OS in children below two years and no difference in children above two years. Also, there was no difference in GFR categories below 90 ml/min /1.73 m2 calculated by either of formula in both age groups. So, we may conclude that either of formula can be used in clinical practice for eGFR in mild to severe renal dysfunction in severely malnour-ished children.

Functional and structural abnormalities of the kidney and urinary tract in severely malnourished children - A hospital based study.

OBJECTIVES: The association of malnutrition and systemic diseases like chronic kidney disease (CKD) is well known. Various urinary tract abnormalities may be associated with malnutrition. So objective of current study was to determine the frequency of functional and structural urinary tract abnormalities in severely malnourished children admitted in Nutritional Rehabilitation Unit (NRU) of a tertiary care facility, Karachi. METHODS: This descriptive cases series of 78 children was conducted in NRU from October 2014 - March 2015. All newly admitted children aged 2-60 months, diagnosed as Severe Acute Malnutrition (SAM) were studied and children with known kidney and urinary tract disorders were excluded. Detailed history, examination and investigations like serum creatinine, ultrasound kidney and urinary tract in addition to routine tests for SAM, were done. A proforma was used to collect demographic data, clinical history, physical findings, and radio-imaging and biochemical investigations. Glomerular filtration rate (GFR) was calculated using Schwartz equation. Data was analyzed using descriptive statistics. RESULTS: Among 78 children, male to female ratio was equal. Mean age was 18±15.53 months and majority (79.48%) of children were below 24 months. Majority (82%) of children with SAM had marasmus whereas 18% had edematous malnutrition. Out of 78, 57 (73%) children had either functional (80.7%) and or structural (19.3%) abnormalities whereas 21(36.84%) had normal functional and structural status. Most common functional abnormality was subnormal GFR (<90ml/min/1.73 m2) found in all 46 children. Functional abnormities were more common in children below 24 months. Other functional disorders were Bartter syndrome, renal tubular acidosis and urinary tract infection (UTI) found in two cases each. Common structural abnormalities were echogenic kidneys (n=4, 36%), hydronephrosis (n=3, 27%), hypoplastic kidneys (n=3, 27%) and calculi (n=1, 9%). Subnormal GFR was also found in all cases with structural abnormalities. UTI was observed exclusively in two children among 11 with structural abnormalities. CONCLUSION: A high frequency of functional abnormalities and noticeable proportion of structural abnormalities of urinary tract were detected in children with SAM. Current finding suggest that multicenter study at national level may be undertaken to generate better data about prevalence of renal diseases in SAM.