Idiopathic pulmonary haemosiderosis presenting as severe iron deficiency anaemia--a case from Pakistan

Idiopathic pulmonary haemosiderosis is an uncommon disorder, which is characterized by iron deficiency, recurrent haemoptysis and diffuse parenchymal infiltration on chest radiograph. We report an 8 year old child who had past history of multiple blood transfusions with diagnosis of iron deficiency anaemia and recurrent chest infection since the age of 21/2 year. At the age of 8 years, the child presented with fever and severe respiratory distress requiring intubation and ventilation. On Chest X-ray, bilateral white out was found and CT scan lung showed diffuse alveolar involvement. Lung biopsy confirmed haemosiderin-laden macrophages. Child was put on steroids and despite severe anaemia (Hb 3.2 g/dl), he showed improvement and survived. To our knowledge, this is the first case of idiopathic pulmonary haemosiderosis reported from Pakistan

Accuracy of echocardiography in diagnosing total anomalous pulmonary venous return

Objective: Total anomalous pulmonary venous return is an uncommon cyanotic congenital heart defect. Echocardiography is the initial diagnostic tool. Complimentary non-invasive modalities like cardiac computerized tomographic angiography and cardiac magnetic resonance imaging have replaced the need for cardiac catheterization in difficult cases. This study aimed to determine the accuracy of echocardiography in diagnosing total anomalous pulmonary venous return, and to determine the factors that may decrease its sensitivity.Methods: This was a cross-sectional study conducted at the Aga Khan University Hospital Karachi, Pakistan from January 2010 to August 2016. All patients who were diagnosed with Total anomalous pulmonary venous return on echocardiography and had subsequent confirmation either on cardiac CT angiography or surgery were included. The diagnostic accuracy of echocardiography was expressed as sensitivity. Previously described taxonomy was used to define diagnostic error. Univariate and multivariate analysis were done by logistic regression OR (95% CI) were reported to identify factors causing the diagnostic error.Results: High diagnostic sensitivity (81%) was found in isolated total anomalous pulmonary venous return and low (27%) in heterotaxy and mixed (20%) varieties. Poor acoustic windows and right isomerism were found to be significant factors responsible for the diagnostic error on multivariate analysis.Conclusion: Echocardiography can diagnose isolated total anomalous pulmonary venous return with high accuracy. Use of additional modalities may be required for a complete diagnosis in cases with mixed variety, heterotaxy and poor acoustic windows

X-linked agammaglobulinemia - first case with bruton tyrosine kinase mutation from Pakistan

X-linked agammaglobulinemia (XLA) is a primary immunodeficiency with more than 600 mutations in Bruton tyrosine kinase (Bkt) gene which are responsible for early-onset agammaglobulinemia and repeated infections. Herein we present a case of a 3-year-old boy with history of repeated diarrhoea and an episode of meningoencephalitis with hemiplegia. The workup showed extremely low levels of immunoglobulin with low CD+19 cells. Genetic analysis showed Btk mutation 18 c.1883delCp.T628fs. To the best of our knowledge this is the first report of a case of XLA confirmed by molecular technique from Pakistan

Abdominal Lymphonodular Cryptococcosis in an Immunocompetent Child

We describe our experience with an apparently immunocompetent child presenting with pyrexia of unknown origin without focal signs. Investigations revealed lymphadenopathy at lung hila, mesentery, and porta hepatis. The child had received at least two months of empiric antituberculous therapy (ATT) before she came to us. A CT-guided biopsy revealed granulomatous inflammation. PAS stain showed yeasts which stained blue with Alcian blue, suggesting C. neoformans

Prevalence and risk factors associated with multi-drug resistant organisms (MDRO) carriage among pediatric patients at the time of admission in a tertiary care hospital of a developing country. A cross-sectional study

Background: The rise of Multidrug-resistant organisms (MDROs) poses a considerable burden on the healthcare systems, particularly in low-middle income countries like Pakistan. There is a scarcity of data on the carriage of MDRO particularly in the pediatrics population therefore, we aimed to determine MDRO carriage in pediatric patients at the time of admission to a tertiary care hospital in Karachi, Pakistan, and to identify the risk factors associated with it.Methods: A cross-sectional study conducted at the pediatric department of Aga Khan University Hospital (AKUH) from May to September 2019 on 347 children aged 1-18 years. For identification of MDRO (i.e., Extended Spectrum Beta-Lactamase (ESBL) producers, Carbapenem Resistant Enterobacteriaceae (CRE), Vancomycin Resistant Enterococci (VRE), Methicillin Resistant Staphylococcus aureus (MRSA), Multidrug-resistant (MDR) Acinetobacter species and MDR Pseudomonas aeruginosa), nasal swabs and rectal swabs or stool samples were cultured on specific media within 72 h of hospitalization. Data was collected on a predesigned structured questionnaire on demographics, prior use of antibiotics for \u3e 48 h in the last 6 months, history of vaccination in last 6 months, exposure to health care facility regardless of the time of exposure, ICU stay for \u3e 72 h, and about the prior use of medical devices (urinary catheter, central venous lines etc.) in last 1 year. Statistical analysis was performed by Standard statistical software.Results: Out of 347 participants, 237 (68.3%) were found to be MDRO carriers. Forty nine nasal swabs from 346 children (14.2%) showed growth of MRSA. The majority of the stool/rectal swabs (n = 222 of 322; 69%) collected were positive for MDRO. The most isolated species were ESBL Escherichia coli 174/222 (78.3%) followed by ESBL Enterobacter species 37/222 (16.7%) and ESBL Klebsiella pneumoniae 35/222 (15.8%). On univariate analysis, none of the risk factors showed statistically significant association with MDRO carriage.Conclusion: Overall, a high prevalence of MDRO carriage was identified among admitted pediatric patients. Implementation of systematic screening may help to identify true burden of MDROs carriage in the health care settings

Acute kidney injury after congenital heart disease surgery: A single-center experience in a low- to middle-income country

Background: Acute kidney injury (AKI) is a commonly recognized clinical problem after congenital heart disease (CHD) surgery. Increased perioperative morbidity, development of chronic kidney disease, and increased mortality are the major concerns. We investigated frequency, risk factors, and outcomes of AKI after CHD surgery at our hospital.Methods: This study was a retrospective analytic review conducted from January 2013 to October 2016 on patients aged between 1 month and 45 years who underwent cardiopulmonary bypass (CPB) for CHD surgery. The modified Kidney Disease Improving Global Outcomes criteria based on serum creatinine value was adopted to diagnose AKI. We assessed AKI frequency and its staging, and outcomes as AKI resolution, length of stay, and mortality. Stages II and III (plasma creatinine level two or more times the baseline) were labeled as severe AKI. Univariate and multivariate logistic regression analyses were conducted, and results were reported as mean with standard deviation and as frequencies with percentage. Odds ratios (ORs) with 95% confidence intervals (CIs) were reported for factors associated with the development of AKI.Results: Of the 840 patients who underwent CHD surgery, 237 (28%) developed AKI. AKI stages II1 and III were seen in 101 (42%) and 103 (43%) patients, respectively. Prolonged CPB time \u3e 120 minutes (adjusted OR [AOR]: 1.87; 95% CI: 1.22-2.88; p = 0.004) and hemoglobin \u3e 16 gm/dL (AOR: 1.80; 95% CI: 1.16-2.78; p = 0.008) were associated with the development of AKI on multivariate analysis. AKI resolved spontaneously in 222 (94%) patients, and 10 (4%) patients who developed AKI died.Conclusions: Most patients with AKI showed spontaneous resolution. Prolonged CPB time and increased hemoglobin were found to be significant risk factors. Our study found spontaneous resolution of AKI in most cases. However, preplanning and careful monitoring in patients with expected prolonged CPB time and increased baseline hemoglobin can prevent and identify AKI at an early stage

Urinary tract infection presenting as jaundice in neonates

Neonatal Hyperbilirubinaemia is a common finding during the first postnatal week. Physiological jaundice occurs in first week of life in 60% of term and 80% of premature neonates. Non physiologic or pathologic jaundice occurs in 5-10% of newborns which require intervention. According to AAP guidelines laboratory investigation for jaundice include total serum bilirubin, blood Type and coombs test and if the baby has an elevation of direct reacting or conjugated bilirubin, there should be a urine analysis and urine culture. Here we are presenting 5 cases that developed indirect hyperbilirubinaemia and routine workup done according to AAP guidelines were normal. On extensive investigation all cases found to have urinary tract infection despite of having indirect bilirubin and they needed course of antibiotics according to sensitivities and follow up ultrasound. From our experience we suggest that UTI should be considered as a cause of neonatal jaundice especially when indirect bilirubin peaks after one week of life at mean age of 10.8 +/- 2.38 days

A retrospective review on antibiotic use in acute watery diarrhea in children in a tertiary care hospital of Karachi, Pakistan

Introduction: Responsible for at least one in nine pediatric deaths, diarrheal diseases are the leading, global cause of death. Further abetted by improper antibiotic use in a hospital setting, children with acute watery diarrhea can see prolonged hospital stays, and unwanted adverse effects such as antibiotic resistance. Hence, this study is aimed to identify the association between antibiotic usage for the treatment of acute watery diarrhea in children, and the impact this line of management has on the duration of their hospital stay.Methods: A retrospective review was conducted at the department of Pediatric of Aga Khan University Hospital (AKUH) in Karachi. A total of 305 records of children aged 6 months to 5 years who were admitted with a diagnosis of acute watery diarrhea from June 2017 -December 2018 was screened, of which 175 fulfilled the eligibility criteria. A predesigned questionnaire was used to collect demographic information, comorbidities, and clinical features, severity of dehydration, clinical examination, treatment received, and laboratory investigations. The primary outcome of this study was the length of hospital stay measured against the number of hours a child stayed in hospital for treatment of acute watery diarrhea. The statistical analysis was carried out using STATA version 14 to reach conclusive results.Results: 175 patients presented with acute watery diarrhea, out of which 106 (60.6%) did not receive antibiotics. The median (IQR) age of the group that did not receive antibiotics was 12.0 (12.0) months compared to 15.0 (12.0) months for the group that did receive antibiotics. In both groups, there were more males than females, less than 15% of the patients were severely malnourished (WHZ score -3SD) and less than 10% of the patients were severely dehydrated. The median (IQR) length of hospital stay (hours) was 32.0 (19.0) respectively for the group that did not receive antibiotic and 41.0 (32.0) for the group that did receive antibiotic therapy. The expected length of hospital stay for the group that received antibiotic therapy was 0.22 hours higher than the group that did not. Finally, as compared to females, hospital stay for males was longer by 0.25 hours.Conclusion: In conclusion, antibiotic use was associated with a prolonged hospital stay in children with acute watery diarrhea as compared to children who did not receive antibiotics. Large scale robust prospective studies are needed to establish this association using this observational data

Detection of typhoid carriers by duodenal fluid culture in a tertiary care hospital, Karachi: A cross-sectional study

We aimed to detect typhoid carriers by performing duodenal fluid culture in patients in a tertiary care hospital in Pakistan. A cross-sectional study was conducted during 2017 at the Aga Khan University Hospital, Karachi. Patients who underwent upper gastrointestinal endoscopy were included. Participants were interviewed, and duodenal fluid samples were taken for culture to detect Salmonella typhi (S. typhi) and paratyphi. A polymerase chain reaction on 100 randomly selected sub-samples was also conducted. A total of 477 participants were enrolled. The mean age was 42.4±15.5 years. History of typhoid fever was present in 73 (15.3%) participants. Out of the 477 duodenal fluid cultures tested for various micro-organisms, 250 (52.4%) were positive. Neither S. typhi nor paratyphi were isolated. S. typhi was also not detected by PCR. To better detect S. typhi carriage in general population, future studies should target people with gall bladder diseases and screen them using culture and PCR based methods

The spectrum of primary immunodeficiencies at a tertiary care hospital in Pakistan

Background: Primary Immunodeficiency Disorders (PIDs) are well-known disorders in the West. but the recognition and diagnosis of these disorders is challenging in developing countries. We present the spectrum of PIDs seen at a tertiary care center in Pakistan, identified using clinical case definitions and molecular methods.Methods: A retrospective chart review of children suspected to have PID was conducted at the Aga Khan University Hospital (AKUH) Karachi, Pakistan from 2010 to 2016. Data on demographics, clinical features, family history of consanguinity, sibling death, details of laboratory workup done for PID and molecular tests targeted panel next generation sequencing (NGS) or whole exome sequencing (WES) performed at the Geha laboratory at Boston Children\u27s Hospital, USA was collected. The study was exempted from the Ethical Review Committee of AKUH.Results: A total of 43 children visited the hospital with suspected PID during the study period. Genetic testing was performed in 31/43 (72.1%) children. A confirmed diagnosis of PID was established in 20/43 (46.5%) children. A pathogenic gene variant was identified in 17(85%) of the 20 confirmed cases (Table 1). Twelve (60%) of the confirmed cases of PID were male. The most common presenting symptom was recurrent diarrhea 11/20 (55%). The mean (±S.D) age of the cases at the time of diagnosis was 4.2 (±4.1) years. Chronic granulomatous disease (CGD) was the most common 6/20 (30%) disorder, followed by severe combined immunodeficiency (SCID) 3/20 (15%), leukocyte adhesion deficiency (LAD) 3/20 (15%), agammaglobulinemia/hypogammaglobulinemia 3/20 (15%), and Hermansky-Pudlak Syndrome (HPS) 2/20 (10%). Wiskott-Aldrich Syndrome, Immunodeficiency Centromeric Instability and Facial Anomalies Syndrome (ICF 2), Trichohepatoenteric syndrome (TRES), and C3 deficiency were each diagnosed once {1/20 (4.3%) each} (Table 1). Of these 20 confirmed cases, almost all 19/20 (95%) had a family history of consanguinity. Sibling death was reported in 5/20 (25%) of these cases. Five out of the 20 (25%) children died over the 7-year period for various reasons.Conclusion: PIDs are not uncommon in Pakistan; their diagnosis may be missed or delayed due to the overlapping of clinical features of PID with other diseases and a lack of diagnostic facilities. There is a need to build capacity for early recognition and diagnosis of PIDs to decrease morbidity and mortality