Nutan Kamath

Manipal Academy of Higher Education | MAHE · Department of Paediatrics

Background: India has child death review which misses the information from private hospitals and community. Community based perinatal death auditing is required to identify preventable perinatal deaths. The objectives are to know utility of expert panel in an audit-based approach to identify 1). preventable perinatal deaths, 2) Risk factors in case...

Objective To understand the phenotypic and genotypic spectrum of genetic forms of rickets in 10 families. Methods Detailed clinical, radiographic, and biochemical evaluation of 10 families with phenotypes suggestive of a genetic cause of rickets was performed. Molecular testing using exome sequencing aided in the diagnosis of six different forms o...

Introduction: Early recognition of neonatal hyperbilirubinemia is essential to prevent bilirubin encephalopathy. Transcutaneous bilirubin (TCB) measurement is a simple and easy method to predict neonatal hyperbilirubinemia. We aimed to study the efficacy of TCB as a predictor of subsequent significant neonatal hyperbilirubinemia in low birth neonat...

Background Despite the implementation of essential newborn care (ENC) by the World Health Organization, knowledge gaps among postpartum women persist. Inappropriate breastfeeding practices and lack of knowledge regarding ENC among mothers has resulted in higher neonatal mortality. Purpose Our study focused on evaluating the effectiveness of flip-c...

Objective To evaluate the effectiveness of using a standardized Essential Newborn Care (ENC) module taught by pediatric residents on ENC skills and growth of offspring born to underweight primigravida mothers. Study design A facility-based, single-blinded, parallel, randomized controlled trial was conducted between May 2018 and March 2019. Eighty-...

COVID appropriate behavioral measures need to be followed once school reopens. School teachers being in the forefront could substantiate the feasibility of suggested safety measures. This study aimed to assess teachers’ perceptions towards COVID appropriate behaviors for children with school reopening and compare their mean scores between public ve...

Objectives To study the incidence, clinical manifestations, and genetic spectrum of primary immunodeficiency diseases (PID)/inborn errors of immunity (IEI) in a tertiary care hospital in Southern India. Methods A retrospective analysis of all patients with a clinical suspicion of PID/IEI seen at a tertiary care hospital was performed. All patients...

Pseudoachondroplasia (PSACH) is an autosomal dominant disorder characterized by rhizomelic short‐limbed skeletal dysplasia. The primary clinical and radiographic features include disproportionate dwarfism, joint laxity and hyperextensibility, exaggerated lumbar lordosis, and late ossification of the epiphyses. Identification of disease‐causing vari...

Background: The presently used perinatal death certificate devised by the World Health Organization is incomplete and does not help in identifying "preventability." Objective: To develop tools that can help identify (1) preventable perinatal death and (2) preventable and/or avoidable cause for perinatal deaths. Materials and methods: As a prer...

Background: Critically ill Indian children have a higher prevalence of vitamin D deficiency. However, there is not much data available on the subgroup with sepsis. It has been reported that there is an impaired response of parathyroid hormone (PTH) to vitamin D deficiency in critically ill children and adults. Hence, we also sought to analyze the P...

Genetic disorders with predominant central nervous system white matter abnormalities (CNS WMAs), also called leukodystrophies, are heterogeneous entities. We ascertained 117 individuals with CNS WMAs from 104 unrelated families. Targeted genetic testing was carried out in 16 families and 13 of them received a diagnosis. Chromosomal microarray (CMA)...

With the advent of antenatal ultrasonography (USG), detection of neonatal intra-abdominal cystic lesions is on the rise. We present a neonate who was detected antenatally to have a cystic lesion per abdomen and presented with features of intestinal obstruction on first postnatal day. Emergency exploratory laparotomy revealed a left torsed ovarian c...

Waardenburg syndrome subtypes 1 and 3 are caused by pathogenic variants in PAX3. We investigated 12 individuals from four unrelated families clinically diagnosed with Waardenburg syndrome type 1/3. Novel pathogenic variants identified in PAX3 included single nucleotide variants (c.166C>T, c.829C>T), a 2-base pair deletion (c.366_367delAA) and a mul...

Objectives Acute Lymphoblastic Leukemia (ALL) is the most common malignancy in children. With improved supportive care and a better understanding of the disease biology, it is now a curable cancer in the developed world. However, in low-income countries, the cure rate remains relatively poor. We report our experience on the survival of children wit...

Background SLPs have a crucial need to depend on comprehensive clinical swallowing assessments to determine the presence of dysphagia in neonates. A comprehensive clinical swallowing assessment that is ethnoculturally sensitive may help to identify the presence and severity of swallowing problems in neonates. Objective The study aimed to construct...

Objectives: In Karnataka state, perinatal mortality rate is almost equal to infant mortality rate. This preliminary study was conducted in two districts of Karnataka to study potential problems to start of perinatal death audit. Methods: Hospitals providing maternal and child health care services, which met study inclusion criteria, in Dakshina...

Introduction: Acute disseminated encephalomyelitis (ADEM) is a rare neurological complication seen in association with severe dengue infection. Here we report a case of a six-year-old male child with ADEM following dengue fever. Case report: A six-year-old boy was admitted with fever, hematuria, and melena of five days duration. On evaluation, t...

Meta-research is an emerging field that can provide valuable insights into research trends. This preliminary meta-research study aimed to trace and describe the research patterns in the area of neonatal dysphagia from 1970 to present using the technique of text mining. It also aimed to compare the amount of published research in the last 5 decades,...

Objective Maternal malnutrition, inadequate weight gain in pregnancy, and maternal anemia are the modifiable variables commonly implicated for intrauterine growth retardation in the community. We aimed to evaluate the frequency of growth retardation and iron deficiency among babies born to malnourished mothers and its association with maternal anth...

Neonatal disease severity scoring systems are needed to make standardized comparison between performances of different units and to give prognostic information to parents of individual babies admitted. Existing scoring systems are unsuitable for resource-limited settings which lack investigations like pH, pO2/FiO2 ratio, and base excess. This study...

Introduction: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by deficits in verbal and nonverbal communication and reciprocal social interaction. The present study aimed to describe the clinical characteristics of ASD and analyze the possible risk factors in the coastal city of Karnataka. Material and Method: This des...

Background: Thalassemia is the most common genetic disorder worldwide. Use of iron chelators has improved survival but endocrine complications have become more frequent. The frequency of hypothyroidism in Beta Thalassemia Major (BTM) children ranges from 6 to 30 %. Thyroid dysfunction mainly occurs by gland infiltration, chronic tissue hypoxia, fr...

Background Cardiac involvement in children with Kawasaki disease (KD) may present with repolarization abnormalities which are associated with increased risk of ventricular arrhythmias and sudden cardiac events. Methods Twenty children with history of KD without cardiac involvement in the acute phase were recruited along with age and sex-matched co...

Introduction: Childhood obesity is increasing all over the world and is associated with metabolic and endocrine derangements. We studied the clinical profile and biochemical parameters in obese and overweight children to assess the presence of metabolic syndrome (Met S). Methods: A hospital based cross sectional study carried out over a period of 2...

Kawasaki disease (KD) is recognized as a leading cause of acquired heart disease in children in developed countries. Although global in distribution, Japan records the highest incidence of KD in the world. Epidemiological reports from the two most populous countries in the world, namely China and India, indicate that KD is now being increasingly re...

The field of pediatric rheumatology has seen a decisive change in the way patients are being treated in last few decades. The diseases of this subspeciality be it JIA, SLE, vasculitis or JDM are chronic and require long term term treatment with drugs. The discovery of new drugs including BRMs and intelligent use of older drugs have made it possible...

Macrophage activation syndrome (MAS) is a potentially fatal complication caused by excessive activation and expansion of macrophages and T lymphocytes. It can be triggered by various infections and is characterized by the development of cytopenias, hyperferritinemia, liver dysfunction, and coagulopathy. We report a 10-month-old female infant with f...

Introduction: Child health plays an essential role in shaping the future of a community. For this reason, governments worldwide have made child health care a priority. Studying the trends of utilization and benefits of child health care schemes is therefore, imperative to assess its impact on the community. Aim: This study was undertaken to assess...

p> Context: Vincristine chemotherapy has dose dependent ototoxicity. Early detection of ototoxicity is better with otoacoustic emissions and high frequency audiometry than conventional pure tone audiometry. The study was done to see if vincristine treatment interferes with hearing sensitivity in children. Methods and Material: A prospective study...

We present a case of a 45-day-old baby brought to our paediatric outpatient department with complaints of abdominal distension. The prenatal ultrasonographic examination showed a large cystic intrabdominal mass with internal calcifications.

Fanconi anaemia is a rare autosomal recessive disorder (birth incidence of 1 per 350000), characterized by chromosome instability that presents with a variety of congenital anomalies, progressive cytopenia, and susceptibility to the development of several malignancies. The study included cases that were diagnosed and treated at a tertiary care cent...

Evaluation of multiplex ligation dependent probe amplification as a tool for diagnosis and carrier detection in families with a dystrophinopathy: We set out to evaluate multiplex ligation dependent probe amplification (MLPA) as a tool for diagnosis and carrier detection in families with a dystrophinopa hy. Fifty three Indian families with provision...

Alstrom’s syndrome (AS) is a rare autosomal recessive ciliopathic condition affecting 1:10,00,000 children. It’s a single gene disorder of ALMS1 on chromosome 2 with multisystem involvement with cone-rod retinal dystrophy causing juvenile blindness, obesity, insulin resistance, type 2 Diabetes mellitus, hypogonadism and sensorineural hearing loss....

Necrotizing fasciitis is a bacterial infection of the soft tissues with a fulminant course and a high mortality rate. It is rare in children and early recognition with aggressive treatment can help in improving the survival in these cases. During the study period 12 children with mean age of 35 months developed necrotizing fasciitis. Common initiat...

Thalassemia is a group of disorders characterized by deficient production of the β-globin sub unit of hemoglobin. The mandatory blood transfusions in patients with thalassemia to maintain adequate erythrocyte levels, leads to iron overload. The prevalence of diabetes in patients with thalassemia varies from 6 to 14%. We here by present a known case...

We report on a child with Marinesco-Sjögren Syndrome, a rare autosomal recessive disorder characterised by early onset cataract, psychomotor delay, cerebellar hypoplasia and myopathy. The presentation, neuro-imaging and muscle biopsy features are discussed.

Objective: There is no clear data on autoantibody levels in Kawasaki Disease (KD) especially from the Indian Subcontinent. Aim: To look for the presence of organ nonspecific and organ specific antibodies to strengthen the search for an autoimmune cause of KD. We tested the presence of antinuclear antibody (ANA) and antithyroid microsomal antibody (...

Background and Objectives: Parents of children with chronic illness like global developmental delay exhibit varied psychopathology in response to their child’s illness. Mothers of these children are more susceptible when compared to fathers, and hence show various psychopathological changes. Analysis of their psychological status is important to id...

Propionic acidemia (PA), an uncommon organic acidemia has varied clinical and metabolic presentation causing difficulty and delay in the diagnosis. We report a case of PA in an infant who presented with failure to thrive, acute encephalopathy due to severe hyperammonemia without acidosis and fungal sepsis. The biochemical basis of severe hyperammon...

Dieulafoy’s lesion is a rare cause of massive upper gastrointestinal haemorrhage in any age. It predominantly occurs in the proximal stomach. We report on a child who presented with massive rectal haemorrhage and a clear nasogastric aspirate due toduodenal Dieulafoy’s lesion. Keywords: clear nasogastric aspirate; hematemesis; massive rectal haemor...

We are reporting here, a case of the Lenz syndrome in a neonate who was brought to the Paediatric OPD, Kasturba Medical College Hospital, Attavar, Mangalore India, with the complaints of poor suckling since birth and abnormal facial features. Altogether, the characteristic congenital abnormal findings in Lenz syndrome, which comprise of microophtha...

Background and aim: Esophageal perforation (EP), a hole in the esophagus - the tube through which food passes from the mouth to the stomach, is a well-known entity in adults, while it is relatively uncommon in infants and children. Instrumental perforation and spontaneous perforation remain the 2 major causes of esophageal injury in infants and chi...

Background and objectives: The measurement of the arterial Blood Pressure (BP) is an integral part of every child's physical examination and it should be interpreted according to the age, gender and the height centiles. Hypertension runs in families and a parental history of hypertension increases the risk of developing hypertension, especially if...

Mediastinal enteric cysts are relatively uncommon, and patients tend to present at a later age compared to those with duplications in other areas of alimentary canal. The tendency of enteric cyst to enlarge and produce airway obstruction is sufficient reason for early surgical removal. We report on a case of mediastinal enteric cyst in a neonate wi...

Henoch–Schonlein purpura (HSP), the commonest childhood vasculitis, is characterised by non-thrombocytopaenic palpable purpura, arthritis or arthralgias, gastrointestinal and renal involvement. The peak incidence is between the ages of 4 years and 8 years with a male preponderance. Though the diagnosis is usually clinical, a tissue biopsy revealing...

Background: Neonatal hyperbilirubinemia, a condition characterized by elevated bilirubin level in blood, is a common, complicated, and controversial clinical problem. The American Academy of Pediatrics (AAP) recommends a follow-up visit, after 2 to 3 days of birth, to detect significant jaundice in all newborns discharged within 48 hours of deliver...

Transient myeloproliferative disorder seen in neonates with Down syndrome is often thought to have a benign course. The authors describe the clinical and laboratory profile of a neonate with Down phenotype and transient myeloproliferative disorder with pericardial effusion as co-morbidity. Pericardial fluid analysis showed eosinophils. Pericardial...

We report here a 6 weeks old infant with congenital tuberculosis presenting with fever, abdominal distension, hepatosplenomegaly with liver dysfunction and was diagnosed by PCR for TB from liver tissue along with classical epitheliod cell granulomas with caseation necrosis. The infant was treated with antitubercular drugs and responded well to trea...

Symptomatic hyponatremia due to syndrome of inappropriate secretion of anti-diuretic hormone (SIADH) in infancy is seen usually with pneumonia and meningitis and its association with deep neck abscess is not documented. Recognition and appropriate management of this complication is important to prevent mortality and long-term neurological morbidity...

Diagnosis of meconium peritonitis (MP) in the prenatal period is a rare event. The reports of prenatal diagnosis and postnatal follow up of MP are limited in number. We report analysis of five such cases, which would serve as a reminder that many of these can be managed effectively and prenatal counseling needs to take this fact into account.

The authors report on a child with bilateral typical split-hand (ectrodactyly) and tibial aplasia, probably the first Indian report. Minor limb malformations in the maternal side suggests an autosomal dominant inheritance. The clinical spectrum and the inheritance of this malformation are discussed. Prenatal screening in families with such malforma...

Acute hepatitis due to hepatitis A virus (HAV) is usually a benign self-limiting disease during childhood. Autoimmune manifestations are rare with acute HAV, especially in children. We report an 8-year-old boy with severe thrombocytopenia as an initial manifestation of acute HAV infection. Bone marrow examination suggested peripheral destruction of...

Chromobacterium violaceum is an extremely rare human pathogen. We report a rare case of septicemia with multiple abscesses and otitis media in a newborn caused by chromobacterium violaceum.