Fibrodysplasia ossificans progressiva: three Indian patients with mutation in the ACVR1 gene.

Abstract:

:Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder characterized by ectopic bone formation involving the connective tissues leading to severe skeletal manifestations. The genetic defect in this disorder has not been characterized in Indian patients till date. The authors report three cases of FOP along with the molecular defects identified in them. Exon 4 of the ACVR1 gene was amplified and analysed by sequencing. All three cases revealed common heterozygous mutation i.e., c.617(G>A). Identification of this mutation would lead to decrease in misdiagnosis and subsequent iatrogenic harm caused to these children by unnecessary surgical procedures. Also, mutation detection would provide an opportunity for prenatal diagnosis.

journal_name

Indian J Pediatr

authors

Shukla A,Taywade O,Stephen J,Gupta D,Phadke SR

doi

10.1007/s12098-013-1117-5

subject

Has Abstract

pub_date

2014-06-01 00:00:00

pages

617-9

issue

6

eissn

0019-5456

issn

0973-7693

journal_volume

81

pub_type

杂志文章
  • Beyond survival: promoting healthy growth.

    abstract::Growth monitoring and nutritional assessment, as means to detect malnutrition, are 2 different types of programs in terms of conception, purposes, and execution. Growth monitoring starts as detection of malnutrition, then acts through prevention by communication to mothers, and finally utilizes community participatio...

    journal_title:Indian journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/BF02810383

    authors: Rohde JE

    更新日期:1988-01-01 00:00:00

  • Nutrition and HIV infection in children.

    abstract::HIV infection has profound effects on a patient's nutritional status because it can modulate appetite, nutrient absorption and basal metabolic rate. In addition, HIV infection can lead to the depletion of a variety of vitamins and micronutrients including vitamins A, D, B2, B6, B12, L-carnitine, iron, zinc and seleniu...

    journal_title:Indian journal of pediatrics

    pub_type: 杂志文章,评审

    doi:10.1007/BF02730805

    authors: Mannick EE,Udall JN,Kaiser M,Fuchs G,Suskind R

    更新日期:1996-09-01 00:00:00

  • Aggression in schools: psychosocial outcomes of bullying among Indian adolescents.

    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

    authors: Malhi P,Bharti B,Sidhu M

    更新日期:2014-11-01 00:00:00

  • Surgical therapy for the univentricular heart.

    abstract::The natural history of the univentricular physiology is determined primarily by the presence (severity) or absence of obstruction to pulmonary blood flow and secondarily by the single ventricular cardiomyopathy that develops in response to chronic volume overload. Important obstruction to pulmonary blood flow will aff...

    journal_title:Indian journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/BF02760487

    authors: Sharma R

    更新日期:2000-07-01 00:00:00

  • Pathophysiology and current management of necrotizing enterocolitis.

    abstract::Necrotizing enterocolitis (NEC), an inflammatory bowel necrosis of preterm infants, is the most common gastrointestinal emergency and a major cause of morbidity and mortality in these infants. In this article, the authors review the pathophysiology and clinical presentation of NEC and provide a critical appraisal of t...

    journal_title:Indian journal of pediatrics

    pub_type: 杂志文章,评审

    doi:10.1007/s12098-014-1388-5

    authors: Kasivajjula H,Maheshwari A

    更新日期:2014-05-01 00:00:00

  • Catastrophic presentation of anomalous origin of right pulmonary artery in a neonate--an interesting differential!

    abstract::A 36-hour-old term neonate presented with refractory cardiogenic shock and multi-organ dysfunction. On suspecting coarctation of aorta, intravenous prostaglandin was started but without any benefit. Echocardiography revealed isolated anomalous origin of right pulmonary artery from ascending aorta causing massive aorti...

    journal_title:Indian journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s12098-014-1416-5

    authors: Chaudhuri M,Mahimarangaiah J,Chandra S,Nijagal Shivanna D

    更新日期:2014-10-01 00:00:00

  • Sports related mild traumatic brain injury in adolescents.

    abstract::While head injuries are not common in youth sports, they may have catastrophic results. Concussion is also referred to as mild traumatic brain injury (MTBI). Although the occurrence of head injuries has been studied more extensively in American football, the findings have wider application for any MTBI. Recently, more...

    journal_title:Indian journal of pediatrics

    pub_type: 杂志文章,评审

    doi:10.1007/BF02820676

    authors: Baker RJ,Patel DR

    更新日期:2000-05-01 00:00:00

  • Liver involvement in celiac disease.

    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

    authors: Maggiore G,Caprai S

    更新日期:2006-09-01 00:00:00

  • Leukodystrophies: Indian scenario.

    abstract::The leukodystrophies are familial disorders with onset usually in infancy or childhood. The clinical features consist of motor dysfunction with varying degree of cognitive decline. Magnetic Resonance Imaging (MRI) has helped to identify and characterize these disorders. In some leukodystrophies, biochemical enzymatic ...

    journal_title:Indian journal of pediatrics

    pub_type: 杂志文章,评审

    doi:10.1007/BF02724013

    authors: Singhal BS

    更新日期:2005-04-01 00:00:00

  • Prevalence and predictors of decreased glomerular filtration rate in tibetan children with congenital heart disease.

    abstract:OBJECTIVES:To assess the prevalence of decreased glomerular filtration rate (GFR) in Tibetan children with congenital heart disease (CHD) and its associated risk factors. METHODS:A total of 207 Tibetan children attending authors' center for treatment of CHD from May 2012 through November 2012, were included in the stu...

    journal_title:Indian journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s12098-014-1351-5

    authors: Zheng JY,Tian HT,Li DT,Zhu ZM,Chen Y,Cao Y,Qiu YG,Liu YM,Li XF,He JC,Wang ZC,Li TC

    更新日期:2014-10-01 00:00:00

  • Pediatric Asthma and Food Allergy.

    abstract:OBJECTIVE:To quantitatively summarize the evidence from observational studies on the relation between pediatric asthma and food allergy. METHODS:A literature search was conducted in Medline and EMBASE (August 2016). Two independent reviewers appraised the studies and extracted the estimates of interest. Methodological...

    journal_title:Indian journal of pediatrics

    pub_type: 杂志文章,meta分析

    doi:10.1007/s12098-017-2326-0

    authors: Zhou H,Dai C,Pan J

    更新日期:2017-08-01 00:00:00

  • Child with Allergies or Allergic Reactions.

    abstract::Incidence of allergic disorders in children has increased significantly over time due to environmental and life-style changes. These include allergic rhinitis, atopic dermatitis, allergic conjunctivitis, food allergies, bronchial asthma, drug allergies, insect bites and anaphylaxis; most being IgE-mediated type 1 hype...

    journal_title:Indian journal of pediatrics

    pub_type: 杂志文章,评审

    doi:10.1007/s12098-017-2436-8

    authors: A R,Baranwal AK

    更新日期:2018-01-01 00:00:00

  • Fraser-cryptophthalmos syndrome.

    abstract::Fraser or Cryptophthalmos syndrome is a variable syndrome to the extent that cryptophthalmos might not be present in all cases. However, the main features are a "hidden eye", other craniofacial abnormalities, renal abnormalities, syndactyly and abnormal genitalia. It may be classified as isolated cryptophthalmos or cr...

    journal_title:Indian journal of pediatrics

    pub_type: 杂志文章,评审

    doi:10.1007/BF02723939

    authors: Kabra M,Gulati S,Ghosh M,Menon PS

    更新日期:2000-10-01 00:00:00

  • Progressive pseudorheumatoid chondrodysplasia simulating juvenile rheumatoid arthritis.

    abstract::Four patients from a Muslim family with an inherited skeletal dysplasia are presented. It is more crippling than usual form of spondylo-epiphysial dysplasia tarda and the onset is very early in the life i.e. at 4 years. The disorder is progressive, crippling and has striking clinical resemblance to juvenile rheumatoid...

    journal_title:Indian journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/BF02722278

    authors: Archik SG,Kamat RD

    更新日期:1990-11-01 00:00:00

  • Fatal thyrotoxic periodic paralysis with normokalemia.

    abstract::We present a 10-year-old girl who presented to our emergency services with difficulty in breathing of 2-days duration and progressive weakness of a month's duration. In a previous admission elsewhere, she had not been detected to have hyperthyroidism or electrolyte abnormalities. On admission, the child was in hyperca...

    journal_title:Indian journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s12098-007-0194-8

    authors: Satam N,More V,Shanbag P,Kalgutkar A

    更新日期:2007-11-01 00:00:00

  • Fibroblast growth factor receptor mutations and craniosynostosis: three receptors, five syndromes.

    abstract::The post eighteen months have been exciting time for craniosynostosis research. In a rapid flurry of publications, mutations of fibroblast growth factor receptors (FGFRs) have been identified in three of the best known craniosynostosis syndromes, namely Apert, Crouzon and Pfeiffer syndromes, as well as in Jackson-Weis...

    journal_title:Indian journal of pediatrics

    pub_type: 杂志文章,评审

    doi:10.1007/BF02751527

    authors: Wilkie AO

    更新日期:1996-05-01 00:00:00

  • A study of acute febrile encephalopathy with special reference to viral etiology.

    abstract:OBJECTIVE:To study the etiological profile of patients with acute febrile encephalopathy syndrome focusing chiefly on the viral etiology, and to correlate clinical and radiological features of patients with viral encephalitis. METHODS:A prospective hospital based study conducted on the consecutive patients admitted in...

    journal_title:Indian journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s12098-008-0150-2

    authors: Karmarkar SA,Aneja S,Khare S,Saini A,Seth A,Chauhan BK

    更新日期:2008-08-01 00:00:00

  • Effect of clofibrate in non-hemolytic indirect hyperbiliru-binemia in full term neonates.

    abstract:OBJECTIVE:Jaundice is a common clinical problem in neonatal period which may result in brain damage even in healthy full term newborns, when it is severe. The aim of this study was to characterize the therapeutic effect of clofibrate in full term neonates who present with nonhemolytic jaundice. METHODS:A clinical cont...

    journal_title:Indian journal of pediatrics

    pub_type: 杂志文章,随机对照试验

    doi:10.1007/s12098-007-0184-x

    authors: Eghbalian F,Pourhossein A,Zandevakili H

    更新日期:2007-11-01 00:00:00

  • Relationship between Obesity Indices and Pulmonary Function Parameters in Obese Thai Children and Adolescents.

    abstract:OBJECTIVE:To determine the correlation between various obesity indices and pulmonary function parameters in obese Thai children and adolescents. METHODS:Obese children and adolescents aged from 8 to 18 y and diagnosed under the criteria of International Obesity Task Force (IOTF) were enrolled. Anthropometric and body ...

    journal_title:Indian journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s12098-015-1777-4

    authors: Kongkiattikul L,Sritippayawan S,Chomtho S,Deerojanawong J,Prapphal N

    更新日期:2015-12-01 00:00:00

  • Outcome and prognostic factors seen in pediatric oncology patients admitted in PICU of a developing country.

    abstract:OBJECTIVE:To evaluate the outcome and prognostic factors for oncology patients in the PICU of a tertiary care centre in a developing country. METHODS:A retrospective chart review was done to assess the outcome of children with cancer in the pediatric intensive care unit (PICU) of a developing country from January 2000...

    journal_title:Indian journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s12098-011-0391-3

    authors: Akhtar N,Fadoo Z,Panju S,Haque A

    更新日期:2011-08-01 00:00:00

  • Adrenal hemorrhage due to vitamin-K deficiency.

    abstract::Adrenal hemorrhage has many etiologies including bleeding diathesis. A 10-day-old female baby was admitted to our clinic with the complaint of abdominal distention. Hemorrhage was determined on the right adrenal gland with abdominal ultrasonography and computerized tomography. Laboratory investigations showed PT 44 se...

    journal_title:Indian journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/BF02723786

    authors: Totan M

    更新日期:2002-01-01 00:00:00

  • Disseminated infection with Cryptococcus neoformans var neoformans in an 8 years immunocompetent girl.

    abstract::Disseminated cryptococcosis is a rare and often fatal disease in children. The majority of cases usually occur in individuals with defective cell-mediated immunity, most commonly due to HIV infection. The authors here in report an 8-year-old girl from Nepal who presented with fever, cough, headache, lymphadenopathy, h...

    journal_title:Indian journal of pediatrics

    pub_type: 杂志文章

    doi:

    authors: Chaudhary MW,Sardana K,Kumar P,Dewan V,Anand VK

    更新日期:2005-01-01 00:00:00

  • Hirschsprung's disease, associated rare congenital anomalies.

    abstract:OBJECTIVE:Hirschsprung's disease may be associated with a number of congenital anomalies of which Down's syndrome and intestinal atresias are commonly encountered. The study aimed to assess the impact of rare associated anomalies on the diagnosis and management of Hirschsprung's disease. METHODS:A retrospective review...

    journal_title:Indian journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/BF02762106

    authors: Das K,Alladi A,Kini U,Babu MK,D'Cruz AJ

    更新日期:2001-09-01 00:00:00

  • Syndrome of insulin resistance with acanthosis nigricans, acral hypertrophy and muscle cramps in an adolescent - a rare diagnosis revisited.

    abstract::The authors report a 14-y-old boy with insulin resistance, acanthosis nigricans, acral hypertrophy and muscle cramps. While there was a dramatic response of the muscle cramps to phenytoin therapy, some other features of metabolic syndrome did not respond to phenytoin therapy alone. ...

    journal_title:Indian journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s12098-014-1503-7

    authors: Ghosh U,Thomas M,Mathai S

    更新日期:2014-12-01 00:00:00

  • Neonatal sepsis due to vertical transmission from maternal genital tract.

    abstract::High vaginal swabs (HVS) of 1792 expectant mothers were sent for culture at the time of delivery, prior to first vaginal examination. The newborns were followed-up for development of superficial or deep infections. Appropriate cultures of the babies who developed infections were sent. Bacterial growth of predominantly...

    journal_title:Indian journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/BF02820186

    authors: Ayengar V,Madhulika,Vani SN

    更新日期:1991-09-01 00:00:00

  • Clinical manifestations of HIV infected children.

    abstract:OBJECTIVE:Heterosexual contact is the predominant mode of transmission among adults in India with an increasing number of women of childbearing age becoming infected with HIV. Consequently, children in India increasingly getting infected, primarily from vertical transmission. A retrospective review of the profile of HI...

    journal_title:Indian journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/BF02724249

    authors: Madhivanan P,Mothi SN,Kumarasamy N,Yepthomi T,Venkatesan C,Lambert JS,Solomon S

    更新日期:2003-08-01 00:00:00

  • Diagnosis and management of cyanotic congenital heart disease: part II.

    abstract::In this review, the clinical features and management of less commonly encountered cyanotic cardiac lesions are reviewed. Pathophysiology, clinical features, laboratory studies and management are discussed. The clinical and non-invasive laboratory features of these cardiac defects are sufficiently characteristic for th...

    journal_title:Indian journal of pediatrics

    pub_type: 杂志文章,评审

    doi:10.1007/s12098-009-0056-7

    authors: Syamasundar Rao P

    更新日期:2009-03-01 00:00:00

  • Scale for identification of "at risk" families for underfive deaths.

    abstract::India currently has an infant mortality rate (IMR) of 73 and aims to reach 60 per 1000 live births by 2000 A.D. The "at risk" approach which has been traditionally used for Maternal and Child Health services could help to reduce costs. The main objective of the study was to identity socio-demographic "risk factors" at...

    journal_title:Indian journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/BF02859456

    authors: Kumar G,Anand K,Kant S,Kapoor SK

    更新日期:2000-06-01 00:00:00

  • Unusual complications of empyema thoracis: diaphragmatic palsy and Horner's syndrome.

    abstract::We report here a 3 month old child with empyema thoracis, who developed complications of diaphragmatic palsy and Horner's syndrome. These complications of empyema thoracis have not been reported earlier. We discuss the possible mechanisms for these complications. ...

    journal_title:Indian journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/BF02859293

    authors: Bhaskar G,Lodha R,Kabra SK

    更新日期:2006-10-01 00:00:00

  • Comparison of Temporal Artery Thermometry with Axillary and Rectal Thermometry in Full Term Neonates.

    abstract:OBJECTIVE:To assess the efficacy of temporal artery thermometer in febrile and hypothermic neonates in comparison to axillary thermometer. METHODS:It was a cross sectional observational study. Study participants included 210 neonates admitted in neonatal intensive care unit of a tertiary care teaching hospital, divide...

    journal_title:Indian journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s12098-016-2259-z

    authors: Goswami E,Batra P,Khurana R,Dewan P

    更新日期:2017-03-01 00:00:00