Abstract:
OBJECTIVES:To screen for variants in the MC4R and LEP genes in 46 patients with clinical suspicion of non-syndromic early onset severe obesity (NEOSO). METHODS:Children with early onset obesity satisfying WHO criteria of obesity were studied. The MC4R and LEP genes were sequenced using a PCR amplicon based NGS on Illumina MiSeq next generation sequencer using an in-house developed protocol. RESULTS:Of the 46 children tested, four were found to have novel pathogenic/likely-pathogenic variants (one in the MC4R gene and three in the LEP gene). In three out of the 4 families, the presence of the variants was confirmed using standard bidirectional capillary sequencing in the probands. CONCLUSIONS:Four children with novel likely pathogenic variants in the MC4R and LEP genes are reported. Genetic analysis is crucial in children with early onset obesity and should be considered.
journal_name
Indian J Pediatrjournal_title
Indian journal of pediatricsauthors
Khadilkar V,Gogate N,Gangodkar P,Ranade S,Lohiya N,Ragte T,Patil K,Pilankar A,Anand S,Bapat A,Agarwal M,Kaushik K,Lote-Oke R,Khadilkar A,Phadke Ndoi
10.1007/s12098-019-03129-6subject
Has Abstractpub_date
2020-02-01 00:00:00pages
105-110issue
2eissn
0019-5456issn
0973-7693pii
10.1007/s12098-019-03129-6journal_volume
87pub_type
杂志文章abstract::The idea that nutrition in early life (such as before conception, during pregnancy and in infancy) can influence, or programme, long-term health, known as the 'Developmental Origins of Health and Disease Hypothesis', has generated great scientific interest. This concept is particularly relevant for the development of ...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s12098-017-2554-3
更新日期:2018-06-01 00:00:00
abstract:OBJECTIVE:To study the prevalence of depression among caregivers of children with cystic fibrosis and its impact on the health and well being of these children. METHODS:This cross-sectional study was conducted in a tertiary care hospital from September 2015 through August 2016. Forty one parents of children receiving ...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-018-2695-z
更新日期:2018-11-01 00:00:00
abstract::Iron overload is a serious and potentially fatal condition that results from multiple blood transfusions required over a long period of time to treat certain types of anemias such as, that caused by beta-thalassemia, sickle cell disease and myelodysplastic syndrome. Deferoxamine, which has been used since four decades...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s12098-010-0030-4
更新日期:2010-02-01 00:00:00
abstract:OBJECTIVE:To study the prevalence of celiac disease in Indian children with Down syndrome and evaluate its clinical and laboratory predictors. METHODS:Prevalence of celiac disease (CD) was assessed in 100 patients with Down syndrome (DS) attending pediatric genetic clinic at All India Institute of Medical Sciences,in ...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-012-0838-1
更新日期:2013-02-01 00:00:00
abstract::A 5-year-old child presented with the second episode of meningitis when we started investigating her to find a cause for recurrent episode of meningitis. During this she suffered from a third attack after which she was diagnosed as having isolated C(3) deficiency. She was put on penicillin prophylaxis and vaccinated a...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-009-0036-y
更新日期:2009-01-01 00:00:00
abstract::When a child is diagnosed with epilepsy, counseling regarding the same is done by the treating doctor. Most parents are frightened and have poor knowledge about epilepsy. Therapeutic advice including drug dosage, administration and side effects takes up the major part of physician's time, thereby neglecting important ...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s12098-019-02946-z
更新日期:2019-07-01 00:00:00
abstract:OBJECTIVE:To estimate the prevalence of current smoking, correlates of smoking and assess exposure to and perceptions towards smoking by gender. METHODS:We used data from the South Korea Global Youth Tobacco Survey (GYTS). Frequencies of selected characteristics and their 95% confidence were obtained. Current cigarett...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-009-0073-6
更新日期:2009-05-01 00:00:00
abstract::We present a male infant with hydrocephalus, cleft lip/palate, micrognathia, club foot, laryngeal stenosis and ostium secundum type atrial septal defect. The karyotype was 46 XY. The combination of malformations observed overlaps with the characteristic findings of hydrolethalus syndrome, Meckel syndrome, Smith-Lemli-...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02898455
更新日期:2006-08-01 00:00:00
abstract:OBJECTIVE:To devise some indicators for measuring and evaluating the neonatal cardiac reserve by using phonocardiogram test (PCGT). METHODS:Two hundred and thirty one (231) full term and one hundred and fifty four (154) preterm infants participated in this study. The amplitude ratio of the first heart sound to the sec...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-010-0058-5
更新日期:2010-06-01 00:00:00
abstract::Diabetic ketoacidosis is the most common endocrine emergency in children and frequently it is the initial presentation of insulin dependent diabetes mellitus. Despite sophisticated technology and our improved understanding of the pathophysiology of this disease, the mortality from intracranial complications remains co...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/BF02795773
更新日期:1997-01-01 00:00:00
abstract::Common variable immunodeficiency (CVID) is a rare primary immunodeficiency disease characterized by hypogammaglobulinemia and recurrent bacterial infections especially in respiratory and gastrointestinal systems. The authors present here a case of CVID with uncommon gastrointestinal manifestation in the form of CVID e...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-011-0635-2
更新日期:2012-10-01 00:00:00
abstract::Senior-Loken syndrome is a rare entity that combines familial juvenile nephronophthisis with retinal dystrophy. The eye disease may be congenital amaurosis of Leber type or pigmentary retinal degeneration and electroretinogram (ERG) helps in the diagnosis of these varieties. The disease progresses inexorably to chroni...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02758316
更新日期:2006-11-01 00:00:00
abstract:OBJECTIVES:To study whether orogastric tube (OGT) insertion elicits a painful response in preterm neonates, and the role of oral sucrose in reducing this pain. METHODS:This double blinded, randomized control trial was conducted in the neonatal intensive care units of Kalawati Saran Children's Hospital. Clinically stab...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,随机对照试验
doi:10.1007/s12098-012-0924-4
更新日期:2013-06-01 00:00:00
abstract:OBJECTIVE:Despite the need to have adolescent-centric policies and mental health services, India is yet far from having one. The authors aimed at generating opinions on the need to have adolescent focused policies and clinical services using the data on Anxiety Disorders they collected from the community. METHODS:This...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-013-1227-0
更新日期:2013-11-01 00:00:00
abstract::Hypophosphatemic rickets (HR) has generated a lot of interest in recent times. There is need to recognize this disorder and differentiate it from the more common nutritional rickets because the therapy is different. It is also important to emphasize that a detailed clinical examination with pedigree analysis and easil...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02723852
更新日期:1999-11-01 00:00:00
abstract::Celiac disease may present as a cryptogenic liver disorder being found in 5-10 % of patients with a persistent and cryptogenetic elevation of serum aminotransferase activity. In fact, a wide spectrum of liver injuries in children and adults may be related to CD and in particular: (1) a mild parenchymal damage characte...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/BF02790391
更新日期:2006-09-01 00:00:00
abstract::Mutations in the gamma-aminobutyric acid type A receptor (GABRG2) gene have been associated with generalized epilepsy, childhood absence epilepsy and febrile seizures. In the present study the authors investigated the association of polymorphism of the GABRG2 with simple febrile seizures (FS) in Egyptian children. Pol...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-011-0564-0
更新日期:2012-11-01 00:00:00
abstract::Forty children aged 5 months to 3 years and suffering from wheezy baby syndrome (WBS) were evaluated to find out the prevalence of neonatal meconium aspiration syndrome (MAS) from the birth records. Twelve (30%) babies with WBS were detected to have a history of MAS at birth, significant enough to require a neonatal I...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02750935
更新日期:1991-07-01 00:00:00
abstract:OBJECTIVE:To compare the efficacy of all types of spacers commonly available to children in India. METHODS:150 children 5-14 yr of age with persistent asthma presenting with peak expiratory flow (PEF) < 70% of personal best were randomized to receive 200 mg salbutamol through one of five spacers: A) 750 ml spacer with...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,随机对照试验
doi:10.1007/s12098-007-0112-0
更新日期:2007-07-01 00:00:00
abstract:OBJECTIVE:The aim of this study is to assess the effect of diagnosis of cancer on the parents, to study the coping response adopted by the child and the family and to evolve counseling strategies. METHODS:Prospective questionnaire based. Thirty-four parents of children suffering from cancer were included, of which 15 ...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-007-0149-0
更新日期:2007-09-01 00:00:00
abstract:OBJECTIVES:To study the clinical profile and outcome of childhood tuberculosis treated with Directly Observed Treatment Short (DOTS) course regimen. Also to study the side effects of anti-tubercular treatment (ATT). METHODS:This prospective hospital based observational study was conducted at Department of Pediatrics, ...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-013-1175-8
更新日期:2014-01-01 00:00:00
abstract:OBJECTIVES:To identify risk factors and outcomes associated with early failure of nasal continuous positive airway pressure (CPAP) in premature infants with respiratory distress (RD). METHODS:This is a retrospective observational study of all the preterm infants with RD primarily supported on nasal CPAP and included i...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-020-03399-5
更新日期:2020-11-01 00:00:00
abstract::High dose vitamin A (HDVA) concentrate began to be distributed in India in 1970 as a short-term, stop-gap approach to reduce clinical signs of vitamin A deficiency. As this problem declined globally, the purpose of distributing them changed to the reduction of young child mortality. However, their impact on this has a...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s12098-018-02851-x
更新日期:2019-06-01 00:00:00
abstract::The improvement in perinatal care has led to increase in survival as well as reduction of morbidity in sick newborns. These babies need to be followed up regularly to assess growth and neurodevelopmental outcome and for early stimulation and rehabilitation. We present a protocol describing the various components of a ...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-008-0075-9
更新日期:2008-05-01 00:00:00
abstract::The primary goal in the management of a child with urinary tract infection (UTI) is to prevent recurrence of UTI and acquired renal damage. Approximately 15% of children develop renal scarring after a first episode of febrile UTI. Vesico-ureteric reflux (VUR) is diagnosed in 30-40% of children imaged after first febri...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s12098-017-2359-4
更新日期:2017-07-01 00:00:00
abstract::Gastric volvulus in children is a rare surgical emergency. We describe 2 cases of gastric volvulus with gastric perforation in association with congenital diaphragmatic hernia. One case presented in infancy after recurrent chest infections with intestinal obstruction. The other case presented in the early neonatal per...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:
更新日期:2004-10-01 00:00:00
abstract::Paraphenylene daimine (PPD) is a kind of aromatic amine that is widely used in several industrial products. Women also use PPD added to henna (Lawasonia alba) as a hair dye. Though rare in Western countries, PPD poisoning is quite common in East Africa, India and Middle Eastern countries because it is a traditional pr...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-013-1074-z
更新日期:2014-07-01 00:00:00
abstract::Functional follicular ovarian cysts are frequently reported in girls with peripheral precocious puberty (PP). These cysts are usually self-limiting and resolve spontaneously. Several drugs like antiestrogens (tamoxifen) and new aromatase inhibitors are seldom used for treatment. Here we report a girl with peripheral P...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-009-0190-2
更新日期:2009-09-01 00:00:00
abstract::The authors report a case of Kawasaki disease that manifested in a newborn and presented at the age of 6 weeks of age with coronary artery aneurysms. ...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02724106
更新日期:2004-04-01 00:00:00
abstract:OBJECTIVES:To examine the prevalence of school bullying and to investigate the behavioral, emotional, socio-economic and demographic correlates of bullying behaviors among Indian school going adolescents. METHODS:Self-reports on bullying involvement were collected from 9th to 10th class students (N = 209; Mean = 14.82...
journal_title:Indian journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s12098-014-1378-7
更新日期:2014-11-01 00:00:00