Nalini Bhaskaranand

Fatal case of Naegleria fowleri meningo-encephalitis in an infant: case report

Abstract Primary amoebic meningo-encephalitis (PAM) is extremely rare and is caused by Naegleria fowleri. It is ?commonly seen in older children who swim in water contaminated with Naegleria species. It is very rare to contract the illness by any other means. We report a case of PAM in an infant aged 6 months. To the best of our knowledge, only one other case of PAM in an infant has been reported from India. A high index of suspicion is required in infants who manifest similarly to pyogenic meningitis but whose CSF shows no bacterial organisms so that a wet mount of a CSF sample can be done for early detection of Naegleria fowleri infection and appropriate intervention.

Assisted ventilation in neonates: The Manipal experience

Case records of 68 newborns who required assisted ventilation over a 24 month period were reviewed. Fortyfour (64.7%) received intermittent mandatory ventilation, 10 (14.7%) received nasal CPAP and the remaining 14 (20.58%) received a combination of the above. Some of the indications for ventilation were infections (21), hyaline membrane disease (16), problems related to asphyxia (11), apnea of prematurity (10) and persistent pulmonary hypertension of newborn (5). The overall survival rate was 41.17%. In the CPAP group 90% (9/10) survived, while in the remaining survival was 32.7% (19/58). The best outcome was observed in persistent pulmonary hypertension of newborn (80%) followed by apnea of prematurity (70%) and hyaline membrane disease (43.75). Outcome was poor in conditions related to birth asphyxia (27.2%) and infections (19.05%). Survival rates were higher (44.4%) in babies weighing >1500g at birth as compared to 40.9% in babies <1500g. Babies less than 32 weeks gestation had a survival rate of 32% as compared to 46.5% in those over 32 weeks. This difference was not statistically significant. Complications were seen in 12/68 patients (17.6%). Pneumothorax was the commonest followed by sepsis, intrventricular hemorrhage and blocked endotracheal tubes. Babies with hyaline membrane disease had the highest incidence of complications. Analysis of the data with regard to the indications, outcome and complications is presented.

Severe derangement of the coagulation profile following multiple bee stings in a 2-year-old boy

Occasionally, insect bites producing systemic complications are the reason for admission to paediatric intensive care. We report an interesting case of multiple bee stings in a 2-year-old boy. The boy, who was stung more than 200 times by honey bees, had a severely deranged coagulation profile with marked elevation of the hepatic enzymes. This complication has not been reported to date. Prompt intensive supportive care led to the childs total recovery.

Serum Apolipoproteins A and B, Lecithin: Cholesterol Acyl Transferase Activities and Urinary Cholesterol Levels in Nephrotic Syndrome Patients before and during Steroid Treatment

Serum apolipoproteins A (Apo-A) and B (Apo-B) and lecithin: cholesterol acyl transferase (LCAT) activities and 24-hour urinary cholesterol levels were estimated in 25 nephrotic children before and during steroid treatment with 4 weeks of daily prednisolone followed by another 4 weeks of alternate-day prednisolone. The patients with untreated nephrotic syndrome (NS) showed significant decrease in serum Apo-A and LCAT activities associated with significant increase in serum Apo-B and urinary cholesterol levels compared to healthy controls (n = 25). Serum Apo-A levels correlated directly and Apo-B levels inversely with the serum albumin concentrations. After a transient elevation, the serum Apo-A level returned to control range by 8 weeks of treatment accompanied by a gradual increase in serum LCAT activity and decrease in urinary cholesterol excretion. Though, the serum Apo-B level was decreased with treatment, it was still significantly high compared to the controls.

Genetic association of KCNJ10 rs1130183 with seizure susceptibility and computational analysis of deleterious non-synonymous SNPs of KCNJ10 gene

Establishing genetic basis of Idiopathic generalized epilepsies (IGE) is challenging because of their complex inheritance pattern and genetic heterogeneity. Kir4.1 inwardly rectifying channel (KCNJ10) is one of the independent genes reported to be associated with seizure susceptibility. In the current study we have performed a comprehensive in silico analysis of genetic variants in KCNJ10 gene at functional and structural level along with a case-control analysis for the association of rs1130183 (R271C) polymorphism in Indian patients with IGE. Age and sex matched 108 epileptic patients and normal healthy controls were examined. Genotyping of KCNJ10rs1130183 variation was performed using PCR-RFLP method. The risk association was determined by using odds ratio and 95% confidence interval. Functional effects of non-synonymous SNPs (nsSNPs) in KCNJ10 gene were analyzed using SIFT PolyPhen-2, I-Mutant 2.0, PANTHER and FASTSNP. Subsequently, homology modeling of protein three dimensional (3D) structures was performed using Modeller tool (9.10v) and compared the native protein with mutant for assessment of structure and stability. SIFT, PolyPhen-2, I-Mutant 2.0 and PANTHER collectively showed rs1130183, rs1130182 and rs137853073 SNPs inKCNJ10 gene affect protein structure and function. There was a considerable variation in the Root Mean Square Deviation (RMSD) value between the native and mutant structure (1.17Ǻ). Association analysis indicate KCNJ10rs1130183 did not contribute to risk of seizure susceptibility in Indian patients with IGE (OR- 0.38; 95%CI, 0.07-2.05) and T allele frequency (0.02%) was in concordance with dbSNP reports. This study identifies potential SNPs that may contribute to seizure susceptibility and further studies with the selected SNPs in larger number of samples and their functional analysis is required for understanding the variants of KCNJ10 with seizure susceptibility.

Significance of 5,10-methylenetetrahydrofolate reductase gene variants in acute lymphoblastic leukemia in Indian population: an experimental, computational and meta-analysis

Abstract Acute lymphoblastic leukemia (ALL) arises due to several genetic alterations in progenitor cells, and methotrexate is frequently used as part of the treatment regimen. Although there is evidence for an effect of 5,10-methylenetetrahydrofolate reductase gene (MTHFR) C677T and A1298C variations on drug response in ALL, its risk association for ALL is still unresolved. In a case–control study of 203 patients with ALL and 246 controls and meta-analysis in the Indian population, we showed an insignificant association of MTHFR C677T and A1298C genotypes with childhood and adult ALL. Comprehensive in silico characterization of non-synonymous single nucleotide polymorphisms (nsSNPs) and SNPs of the 3′ untranslated region (UTR) revealed nine nsSNPs as deleterious, and three SNPs in the 3′UTR could possibly alter the binding of miRNAs. The study revealed that several overlooked SNPs may contribute to the risk of ALL susceptibility and further studies of these SNPs with functional characterization in a large sample size are required to understand the significant role of MTHFR in ALL development.

Clinicohematological Study of Thrombocytosis in Children

Introduction. Primary thrombocytosis is very rare in children; reactive thrombocytosis is frequently observed in children with infections, anemia, and many other causes. Aims and Objectives. To identify the etiology of thrombocytosis in children and to analyze platelet indices (MPV, PDW, and PCT) in children with thrombocytosis. Study Design. A prospective observational study. Material and Methods. A total of 1000 patients with thrombocytosis (platelet > 400 × 109/L) were studied over a period of 2 years. Platelet distribution width (PDW), mean platelet volume (MPV), and plateletcrit (PCT) were noted. Results. Of 1000 patients, 99.8% had secondary thrombocytosis and only two children had primary thrombocytosis (chronic myeloid leukemia and acute myelogenous leukemia, M7). The majority of the children belonged to the age group of 1month to 2 years (39.7%) and male to female ratio was 1.6 : 1. Infection with anemia (48.3%) was the most common cause of secondary thrombocytosis followed by iron deficiency alone (17.2%) and infection alone (16.2%). Respiratory infection (28.3%) was the predominant infectious cause observed. Thrombocytosis was commonly associated with IDA among all causes of anemia and severity of thrombocytosis increased with severity of anemia (P = 0.021). With increasing platelet count, there was a decrease in MPV (<0.001). Platelet count and mean PDW among children with infection and anemia were significantly higher than those among children with infection alone and anemia alone. None were observed to have thromboembolic manifestations. Conclusions. Primary thrombocytosis is extremely rare in children than secondary thrombocytosis. Infections in association with anemia are most commonly associated with reactive thrombocytosis and severity of thrombocytosis increases with severity of anemia.

A variant of mirror hand: a case report.

We report a variant of mirror hand in a 3.5-year-old boy who presented with multiple fingers. The x-ray revealed an attempt at fusion of 2 hypoplastic radii, 1 ulna, and multiple fingers. The unique feature of this case is a broad radius with proximal notching suggesting failed incomplete duplication. The reasons for this duplication and duplication of the fingers appear to be different.

Neurobrucellosis Mimicking Neurotuberculosis

To the Editor: Neurobrucellosis is a very rare manifestation of brucellosis with an incidence of <2% of all brucellosis cases, which is often a diagnostic challenge as it mimics neurotuberculosis [1]. An 11-y-old boy from rural South India, presented with persisting fever and headache for more than a month with loss of appetite and weight. On examination, he was hemodynamically stable with signs of meningeal irritation without any focal neurological deficits. Cerebrospinal spinal fluid (CSF) analysis revealed protein – 133 mg/dl, Glucose – 25 mg/dl with corresponding blood sugar of 95 mg/dl, total cell count – 100 cells/cm, Lymphocytes –99%, Neutrophils −1%. CSF culture and virologica studies were negative. Contrast enhanced computed tomography (CECT) brain showed leptomeningeal enhancement in bilateral temporoparietal regions suggestive of meningitis. Since, the above findings were highly suggestive of tubercular meningitis, anti tubercular therapy (ATT) was initiated. On Day 5, blood culture grew Brucella. Hence ATT was discontinued, and was started on Co-trimoxazole 10 mg/kg/d and Rifampicin 15 mg/kg/d for 6 wk, Gentamycin 5 mg/kg/d during first week for neurobrucellosis. The child responded well to the above treatment and had no neurological deficits at discharge and during third month followup. Repeat CSF study done after 2 wk of therapy was normal and Brucella agglutination titer which was positive at diagnosis became negative. Though rare, meningitis, meningoencephalitis and neuropathy secondary to brucellosis are reported [2, 3]. Blood culture, which is the gold standard for diagnosis, is more likely to yield the organism than the CSF. Neuroimaging is not of much value as it shows nonspecific inflammatory changes [4]. There is a lack of consensus about antibiotic of choice in neurobrucellosis but a combination of antibiotics (Rifampicin, Co-trimoxazole, Doxycycline) for 6–8 wk, up to 6 mo is advocated to achieve remission. Though, there is a tendency to misdiagnose and treat neurobrucellosis as neurotuberculosis, blood culture and serological tests helped to clinch the diagnosis in our case [5]. A high index of suspicion, positive blood culture and serological tests along with a history of exposure to livestock/raw milk consumption is required for timely diagnosis and prompt treatment of Neurobrucellosis.

Fracture neck of femur in Factor XIII deficiency: Was better outcome possible?

The fracture in a Factor XIII deficiency patient is being reported for the first time in the literature. We report a displaced fracture neck of femur in a 17-year-old boy with Factor XIII deficiency. Open reduction and internal fixation was done 8 days after the following the initial injury. Two units each of fresh frozen plasma and cryoprecipitate were given perioperatively to prevent excessive bleeding. No perioperative bleeding complications were encountered. At 18-months follow-up, the fracture had united with evidence of avascular necrosis. The fracture neck of femur in a child or young adult needs to be reduced and stabilized at the earliest to prevent devastating complications. Its occurrence in a patient with Factor XIII deficiency is to be managed like in a normal patient, but with extra perioperative care. Undue delay in fixation as happened in this case should be avoided for a better outcome.