Validation of postnatal growth and retinopathy of prematurity (G-ROP) screening guidelines in a tertiary care hospital of Pakistan: A report from low-middle income country.

Retinopathy of Prematurity (ROP) significantly contributes to childhood blindness globally, with a disproportionately high burden in low- and middle-income countries (LMICs) due to improved neonatal care alongside inadequate ROP screening and treatment facilities. This study aims to validate the performance of Postnatal Growth and Retinopathy of Prematurity (G-ROP) screening criteria in a cohort of premature infants presenting at a tertiary care setting in Pakistan. This cross-sectional study utilized retrospective chart review of neonates admitted to the neonatal intensive care unit (NICU) at The Aga Khan University Hospital, Pakistan from January 2018 to February 2022. The complete G-ROP criteria were applied as prediction tool for infants with type 1 ROP, type 2 ROP, and no ROP outcomes. Out of the 166 cases, 125 cases were included in the final analysis, and remaining cases were excluded due to incomplete data. ROP of any stage developed in 83 infants (66.4%), of whom 55 (44%) developed type 1 ROP, 28 (22.4%) developed type 2 ROP, and 19 (15.2%) were treated for ROP. The median BW was 1060 gm (IQR = 910 to 1240 gm) and the median gestational age was 29 wk (IQR = 27 to 30 wk). The G-ROP criteria demonstrated a sensitivity of 98.18% (95% CI: 90.28-99.95%) for triggering an alarm for type 1 ROP. The G-ROP criteria achieved 100% sensitivity (95% CI: 87.66 to 100%) for type 2 ROP. The overall sensitivity of G-ROP criteria to trigger an alarm for any type of ROP was 98.8% (95% CI: 93.47 to 99.97%). Thus, the G-ROP screening model is highly sensitive in detecting at-risk infants for ROP in a Pakistani tertiary care setting, supporting its use in LMICs where standard screening criteria may not suffice.

Impact of COVID-19 on feto-maternal and neonatal health in Karachi, Pakistan, A retrospective cohort study.

Scientific literature suggests that pregnant women are at greater risk of acquiring a more severe form of COVID-19 exposing both mother and child to a higher risk of obstetric and neonatal complications. These include increased hospitalization rates, ICU admissions, or ventilatory support among pregnant women when compared to COVID-19 negative pregnant womenA case-control study was conducted at the Aga Khan University Hospital, Karachi, Pakistan with the objective of evaluating the clinical presentation of COVID-19 in pregnancy and its effect on maternal and neonatal outcomes. Data was retrospectively collected from April 2020 till January 2022 of obstetric patients with COVID-19 positive cases and were compared with COVID-19 negative cases from the same time. A total of 491 women were included in the study, 244 cases and 247 controls. The most common complication amongst cases was gestational diabetes mellitus (n = 59, 24%), followed by gestational hypertension (n = 16, 31.7%), pre-eclampsia (n = 13, 5%) Pre-rupture of membrane (85.7%). Amongst the COVID positive mothers the most common presenting complaints were fever followed by dry cough, headache, and shortness of breath. It was observed that COVID-19 did not result in increased adverse maternal or neonatal outcomes compared to COVID-19 negative mothers.

Neonatal Diabetes Mellitus - Is Trisomy 21 Associated With Refractory Hyperglycaemia?

Background: Neonatal diabetes mellitus is a rare disorder characterized by refractory hyperglycaemia which is further divided into two types, transient (TNDM) and permanent neonatal diabetes (PNDM), which is associated with genetic aberrations at the human chromosome 6q24 accompanied with pancreatic structural abnormalities or -cell dysfunction requiring insulin treatment. This case report analyzes a rare correlation between a case of permanent neonatal diabetes mellitus with Trisomy 21. Method: An infant presented with intrauterine growth retardation and very low birth weight showing signs of persistent hyperglycaemia where genetic analysis suggested presence of permanent neonatal diabetes mellitus accompanied with Trisomy 21. Chest X-ray examination alongside an echocardiogram revealed significant pericardial tamponade. By the 6th week of life, pericardial effusion spontaneously resolved supported by normal follow-up echocardiograms without any treatment plan. The patient became euglycemic by 3rd week of life and discharged. Conclusion: Neonates with diabetes mellitus usually present with clinical features such as low-birth weight, ketoacidosis, consistent insulin-requiring hyperglycaemia and preterm. This case report shows a correlation between neonatal diabetes and genetic syndromes. Treatment plans can be improved by conducting genetic studies between these two variables and understanding the long-term outcomes.

Neonatal Appendicitis With Necrotizing Enterocolitis.

Acute appendicitis is an infrequent condition in neonates, especially in term infants. With around 100 cases in the last century and no specific diagnostic tool, this case report is an addition to the existing literature that helps in our understanding of the disease. A preterm infant who had greenish aspirates and dilated bowel loops on abdominal x ray and was treated on the lines of necrotizing enterocolitis failed to improve. Baby had issues of abdominal distension whenever feeds were started hence exploratory laparotomy was done on the 45th day of life which showed appendicitis with adherent terminal ileum, caecum, and appendix. Two months after the surgery, the patient was unable to respond to antibiotic therapy for septic condition leading to death.

A case report on fibular aplasia, tibial campomelia, oligosyndactyly syndrome variant in a male infant.

Fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO syndrome) is a rare, genetic, congenital limb malformation characterised by unilateral or bilateral fibular aplasia, tibial campomelia, and lower limb oligosyndactyly involving the lateral rays. A newborn male born at term via a Caesarean Section presented with malformations consisting of tibial campomelia, unilateral fibular hypoplasia, and oligosyndactyly, a "FATCO variant" case. On radiographic examination, an anterolateral shortened and bowed right lower limb at the distal third of the tibia, a rudimentary right fibula and absence of three rays on right foot were revealed. "FATCO syndrome" although rare may be linked to involvement of different body systems with morbidity and mortality. Proper parent counseling is a key aspect of this syndrome. Timely diagnosis and management with a multidisciplinary approach is essential to avoid lifelong disability, which can be a hurdle in a developing country.

Clinical Profile and Predictors of Mortality in Neonates Born With Non-Immune Hydrops Fetalis: Experience From a Lower-Middle-Income Country.

Introduction Hydrops fetalis (HF) is a life-threatening condition in which a fetus has an abnormal collection of fluid in the tissue around the lungs, heart, abdomen, or under the skin. Based on its pathophysiology, it is classified into immune and non-immune types. With the widespread use of anti-D immunoglobulin, non-immune HF has become more common, with an incidence of one in 1,700-3,000 live births. A multitude of fetal diseases with various causes can lead to non-immune HF. Due to the recent advances in prenatal diagnostic and therapeutic interventions together with improved neonatal intensive care, the diagnosis and subsequent management of HF have been refined. However, HF is still associated with a high mortality rate. A recent assessment of the literature found that there is a lack of data on prognostic variables in neonates with HF from low- and middle-income countries. In light of this, we sought to establish the etiologic causes, predictors of mortality, and eventual fate of newborns born non-immune HF at the Aga Khan University Hospital, Karachi during the 10-year period spanning January 2009-December 2019 in this retrospective analysis. Methodology For this study, we collected data from the computerized database and patient record files at the hospital on all infants with non-immune HF. Demographic data, postnatal interventions, clinical and laboratory findings, outcomes, and the results of comparison between HF patients who died and those who survived were analyzed. Results The incidence of non-immune HF at our hospital was 0.62/1,000 live births during the period under study, with 33 newborn babies diagnosed with non-immune HF from a total of 53,033 live-born deliveries. An etiologic factor was discovered in 17 (51.5%) neonates with non-immune HF while 16 (48.4%) were classified as those with unidentified etiology. The most common causes were cardiovascular and genetic syndromes, which resulted in 100% mortality. The overall mortality rate was 67%. The need for mechanical ventilation, surfactant therapy, and prolonged hospitalization were identified as independent risk factors of mortality. Conclusion Our study proves that the need for mechanical ventilation [moderate to severe hypoxic respiratory failure (HRF)] and prolonged hospitalization are strong predictors of poor outcomes in neonates with non-immune HF. Therefore, severe hydrops causing significant mortality can be anticipated based on the patients' respiratory status and the need for escalated oxygen support.

Referral pattern and outcomes of neonates from secondary care setting of Aga Khan University Hospital to tertiary care centers in Pakistan.

OBJECTIVE: To determine the reasons of neonatal referrals from secondary-care to tertiary-care setting, and to assess neonatal outcomes for the referred cases. METHODS: The retrospective study was conducted at the Aga Khan University Hospital, Karachi, and comprised data from July 2015 to June 2019 Related to all neonates born after 32 weeks of gestation at the satellite secondary-care centres in Kharadar, Garden and Karimabad who had been referred to the main tertiary care hospital. The reason for referral, need of mechanical ventilation, referral place and neonatal outcome were noted. Data was analysed using SPSS 22. RESULTS: Of the 348 cases, 211(60.6%) were boys. The overall mean gestational age was 36.42±2.61 weeks and the mean birth weight was 2.54±0.67 kg. The outcome was neonatal mortality in 42(12%) cases. Of the remaining 306(88%) cases, 284(92.81%) were discharged from the hospital and 22(7.18%) left against medical advice. Overall, mechanical ventilation was needed in 63(18.1%) patients. There was a significant association of mechanical ventilation with low Appearance, Pulse, Grimace, Activity, and Respiration score at 1 and 5 minutes (p<0.001), shorter duration of stay (p=0.007), and aggressive resuscitation requirement at birth (p<0.001). CONCLUSIONS: The most common reasons for referral of newborns to tertiary care hospital were respiratory diseases requiring respiratory support and surgical intervention.

Effectiveness of Transcutaneous Bilirubin Measurement in High-Risk Neonates and to Evaluate Validity of Transcutaneous Bilirubin With Total Serum Bilirubin Levels in Both Low and High-Risk Neonates at a Tertiary Care Center in a Developing Country.

Objectives To evaluate the usefulness of transcutaneous bilirubin (TcBR) nomogram in high-risk neonates and to identify the validity of TcBR and total serum bilirubin (TsBR) in both low and high-risk neonates to guide management in under-resourced settings. Methodology A cross-sectional study was conducted at the well-baby nursery of a tertiary care center in Karachi, Pakistan. All neonates admitted in the well-baby nursery with jaundice were stratified into high and low-risk groups. Eighty-seven neonates were included in the low-risk group and 121 neonates in the high-risk group. The usefulness of the TcBR nomogram in high-risk neonates and the validity of TcBR and TsBR in both low and high-risk neonates were determined through sensitivity and specificity analysis. Results The correlation coefficients (r) were found to be comparable in the high-risk group (r = 0.82, p < 0.001) and the low-risk group (r = 0.87, p < 0.001). The specificity of cutaneous bilirubin measurement based on bilirubin levels in the high-risk group was higher (93.0%) than that of the low-risk group (90.1%). However, the sensitivity was found to be lower (60.0%) in the high-risk group compared to the low-risk group (68.8%). The mean value of TsBR was equal in both groups. The mean TcBR in the high-risk group was 10 ± 2.3 compared to 11 ± 2.1 in the low-risk group. Phototherapy was given in 67.0% of the high-risk cases and 41.4% of the low-risk cases. Bland Altman analysis was also performed to depict the relationship between TcBR and TsBR measurements. Conclusion The TcBR nomogram was effective in high-risk neonates and also had validity in both high and low-risk neonates. A phototherapy-driven protocol based on TcBR would be a cost-effective and useful tool in the identification and management of neonatal jaundice in both high and low-risk groups in developing countries like Pakistan.

Optical coherence tomography: assessment of coronary artery disease and guide to percutaneous coronary intervention.

BACKGROUND AND AIMS: Angiographic guidance for percutaneous coronary intervention (PCI) has significant limitations in interpretation. The superior spatial resolution of optical coherence tomography (OCT) can provide meaningful clinical benefits, although limited data is available on Asian populations. This study aimed to determine whether OCT can provide additional advantages and useful clinical information beyond that obtained by angiography alone in decision making for PCI. METHODS: This was an observational study based on a single tertiary cardiac center in Pakistan, which includes 67 patients who underwent coronary angiogram and stenting. Their pre and post stenting OCT findings were recorded. Any additional intervention was also recorded. The data were analysed using IBM SPSS software version 26.0. RESULTS: The mean age was 55.00 ± 9.00 years. Majority of the patients were males (65.7%). On angiography, there was an equal number of stable and ruptured plaques (38.8%). Post stenting results showed 29.9% under deployed stents and 34.3% were either undersized or mal-apposed. Out of 67 patients, 50 (74.6%) needed re-intervention after PCI. Among different procedures, post-dilatation was most common. CONCLUSION: The main OCT benefit is in borderline lesions on CA, in whom OCT identifies significant coronary stenosis and leads to PCI indication in patients. In the post-PCI context, OCT leads to an indication of PCI optimisation in half of the coronary lesions.

Genetic Warfarin-Resistance Resulting in Surgery to Change a Prosthetic Valve.

Warfarin is a readily available anticoagulant used worldwide in a variety of clinical scenarios. Patients who need more than 15 mg/day are considered to be warfarin resistant. Numerous genes have been implicated in warfarin pharmacogenetics, with genes encoding CYP2C9 and VKORC1 shown to be the most important determinants of drug dosage requirements. A 27-year-old woman was admitted as she had a sub-therapeutic international normalized ratio (INR) after prosthetic mitral valve replacement. Even after a warfarin dose of 50 mg/day, her INR was not in the therapeutic range, so the heart team decided to replace her metallic valve with a bioprosthetic valve, thus alleviating the need for anticoagulation. LEARNING POINTS: Genetic warfarin resistance is rare and mainly associated with two genes encoding CYP2C9 and VKORC1.In addition to dietary counselling and drug compliance, options in warfarin-resistant patients include increasing the warfarin dose, which carries a risk of bleeding complications, or switching to novel oral anticoagulants, which increases the risk of prosthetic valve thrombosis.We replaced a metallic valve with a bioprosthetic valve, which is the first time this has been documented in a patient with warfarin resistance.

Natural history of non-lethal Raine syndrome during childhood.

BACKGROUND: Raine syndrome (RS) is a rare autosomal recessive disorder caused by biallelic loss-of-function mutations of FAM20C. The most common clinical features are microcephaly, exophthalmos, hypoplastic nose and severe midface hypoplasia, leading to choanal atresia. The radiological findings include generalized osteosclerosis and brain calcifications. RS is usually lethal during the neonatal period due to severe respiratory distress. However, there exists a non-lethal RS form, the phenotype of which is extremely heterogeneous. There is paucity of data about clinical course and life expectancy of these patients. RESULTS: This is the first description of follow-up features of non-lethal RS patients. Moreover, we present three unpublished cases. There are five Asian and two Arab patients. All were born to consanguineous parents. The most common neonatal comorbidity was respiratory distress secondary to choanal atresia. A variable degree of neurodevelopmental delay was seen in the majority of our cases and seizures and hearing or vision involvement were also frequent. Neurological and orthopedic issues were the most frequent complications seen at follow-up in our group. Persistent hypophosphatemic rickets was the most striking endocrinological manifestation, which was scarcely responsive to therapy with phosphate salts and alfacalcidol. Life expectancy of our patients goes beyond childhood, with the oldest of those described being 18 years old at present. CONCLUSIONS: Manifestations of RS in those surviving the neonatal period are being increasingly recognized. Our study supports previous findings and provides clinical and biochemical observations and data from longer follow up. Finally, we propose multidisciplinary follow up for patients with non-lethal RS.

Caffeine Treatment for Apnea of Prematurity and the Influence on Dose-Dependent Postnatal Weight Gain Observed Over 15 Years.

Background and Aim: To analyze the influence on weight gain of infants exposed to two dosage regimens of oral caffeine citrate (CC) for apnea of prematurity. Methods: Retrospective descriptive observational study of an eligible very low birth weight cohort over a 15-year period in an Irish University hospital. Data were analyzed between two distinct postnatal ages: 14-28 and 29-56 days. Results: During the 15-year study, 457 infants were prescribed caffeine. Among the 14-28-day group, after applying exclusion criteria, 418 infants qualified. Two hundred forty-eight infants received 5 mg/(kg·day) and 170 received 10 mg/(kg·day) of CC. Among the 29-56-day group, 362 infants were identified and after applying exclusions, 332 fulfilled entry criteria [214 on 5 mg/(kg·day) and 118 on 10 mg/(kg·day) regimen]. Baseline characteristics of infants were comparable between groups without statistically significant differences. Mean daily weight gain (MDWG) in grams from day 14 to 28 showed a higher rate of increase for the 5 mg/(kg·day) group compared with the 10 mg/(kg·day) group (17.2 ± 12 g vs. 13.0 ± 10.2 g [p = 0.04]). From day 29 to 56, also MDWG was higher among infants on 5 mg/(kg·day) of CC compared with 10 mg/(kg·day) group (15.6 ± 10.8 g vs. 10.2 ± 9.8 g [p = 0.011]). Conclusion: While a variety of measures are optimized to promote postnatal weight gain of premature infants close to an ideal intrauterine growth curve, not paying sufficient attention to one of the most widely used catabolic agents in neonatology is questionable and warrants vigilance. Additional nutritional measures could be offered to those with prolonged caffeine exposure.