Spinal muscular atrophy: some easy clues to diagnosis.

Abstract:

:Seven cases of benign form of spinal muscular atrophy were studied to evaluate the importance of detecting hand tremors, muscle fasciculation, evertion of foot and ECG tremors to distinguish these cases from muscular dystrophy. Taken in combination, diagnosis of all the seven cases was possible without the need for application of more sophisticated and invasive investigations, e.g., EMG, nerve conduction study, CPK levels and muscle biopsy.

journal_name

Indian Pediatr

journal_title

Indian pediatrics

authors

Gupta PC,Ahuja B,Dhamija K,Mullick DN

subject

Has Abstract

pub_date

1989-10-01 00:00:00

pages

977-80

issue

10

eissn

0019-6061

issn

0974-7559

journal_volume

26

pub_type

杂志文章
  • Epidemiological and Clinical Profile of Pediatric Inflammatory Multisystem Syndrome - Temporally Associated with SARS-CoV-2 (PIMS-TS) in Indian Children.

    abstract:Background:We describe the demographic, clinical and labo-ratory findings along with the treatment and outcomes among children meeting the case definition of Pediatric Inflammatory Multisystem Syndrome - Temporally associated with SARS-CoV-2 (PIMS-TS). METHODS:We analyzed the clinical and laboratory findings of childr...

    journal_title:Indian pediatrics

    pub_type: 杂志文章

    doi:

    authors: Dhanalakshmi K,Venkataraman A,Balasubramanian S,Madhusudan M,Amperayani S,Putilibai S,Sadasivam K,Ramachandran B,Ramanan AV

    更新日期:2020-11-15 00:00:00

  • Community participation in health programmes.

    abstract::No clear operational definition of 'Community Participation' has emerged over the last decade of experimentation. One reason is the markedly contrasting perspectives that exist at different levels such as Aid Agencies, Ministry of Health, Government Health Programmes and Non-Government Organizations (NGOs). A more pra...

    journal_title:Indian pediatrics

    pub_type: 杂志文章

    doi:

    authors: Dyal Chand A

    更新日期:1989-11-01 00:00:00

  • Risk factors for prolonged shedding of 2009 H1N1 influenza virus.

    abstract::This retrospective study was conducted to estimate the shedding of 2009 H1N1 virus and the risk analysis by review of medical charts, laboratory and radiological findings of all inpatients with confirmed pandemic influenza A (H1N1) at a provincial pediatric hospital. A total of 41 cases attending the inpatient departm...

    journal_title:Indian pediatrics

    pub_type: 杂志文章

    doi:10.1007/s13312-011-0151-5

    authors: Chen Y,Qiao H,Zhang CM,Tong M,Shang S

    更新日期:2011-12-01 00:00:00

  • Multiple Pituitary Hormone Deficiency, Empty Sella and Ectopic Neurohypophysis in Turner Syndrome.

    abstract:BACKGROUND:Multiple pituitary hormone deficiency and Turner syndrome have overlapping features in peripubertal girls and is a diagnostic challenge. CASE CHARACTERISTICS:16-year-old girl having Turner phenotype undergoing evaluation for severe short stature and pubertal arrest. OBSERVATION:45,X karyotype, and multiple...

    journal_title:Indian pediatrics

    pub_type: 杂志文章

    doi:10.1007/s13312-015-0721-z

    authors: Dutta D,Selvan C,Mukhopadhyay S

    更新日期:2015-09-01 00:00:00

  • Resuscitation of asphyxiated newborns with room air or 100% oxygen at birth: a multicentric clinical trial.

    abstract:OBJECTIVE:To compare the short-term efficacy of room air versus 100% oxygen for resuscitation of asphyxic newborns at birth. DESIGN:Multicentric quasi randomized controlled trial. SETTING:Teaching hospitals. INCLUSION CRITERIA:Asphyxiated babies weighing greater than 1000 grams, with heart rate less than 100 per min...

    journal_title:Indian pediatrics

    pub_type: 临床试验,杂志文章,多中心研究

    doi:

    authors: Ramji S,Rasaily R,Mishra PK,Narang A,Jayam S,Kapoor AN,Kambo I,Mathur A,Saxena BN

    更新日期:2003-06-01 00:00:00

  • Sanjad-Sakati syndrome in a neonate.

    abstract::Congenital hypoparathyroidism, growth retardation and dysmorphism is a rare autosomal recessive syndrome among Arab population commonly known as Sanjad-Sakati syndrome(SSS).Several metabolic and septic complications are known to manifest in the neonatal age. We describe the first report of morbid pathological fracture...

    journal_title:Indian pediatrics

    pub_type: 杂志文章

    doi:10.1007/s13312-010-0066-6

    authors: Pal K

    更新日期:2010-05-01 00:00:00

  • Ferrous sulfate versus iron polymaltose complex for treatment of iron deficiency anemia in children.

    abstract::We assessed the clinical response and side effects of Ferrous sulfate (FS) and Iron polymaltose complex (IPC) in 118 children with Iron deficiency anemia (IDA). Subjects were randomized to receive therapy with either oral IPC (Group A, n=59) or oral FS (Group B, n=59); all were given elemental iron in three divided do...

    journal_title:Indian pediatrics

    pub_type: 杂志文章,随机对照试验

    doi:

    authors: Bopche AV,Dwivedi R,Mishra R,Patel GS

    更新日期:2009-10-01 00:00:00

  • Health-related quality of life in children with cerebral palsy and their families.

    abstract:OBJECTIVE:To determine the health-related quality of life in children with cerebral palsy and their families. METHODS:One hundred children (3-10 years of age) receiving regular rehabilitation therapy for cerebral palsy for last 1 year at a Child Development Centrer were enrolled and the Lifestyle assessment questionna...

    journal_title:Indian pediatrics

    pub_type: 杂志文章

    doi:10.1007/s13312-014-0414-z

    authors: Dobhal M,Juneja M,Jain R,Sairam S,Thiagarajan D

    更新日期:2014-05-01 00:00:00

  • Lactation failure.

    abstract::Seventy five mothers with lactation failure were studied, whose less than 4-month-old babies were admitted to the hospital. Partial lactational failure (94.7%) was noted more often than complete lactational failure (5.3%). Initiation of breastfeeding was delayed for 2 to 5 days usually for traditional reasons (77.3%) ...

    journal_title:Indian pediatrics

    pub_type: 杂志文章

    doi:

    authors: Mathur GP,Chitranshi S,Mathur S,Singh SB,Bhalla M

    更新日期:1992-12-01 00:00:00

  • Child labor in suburban areas of Calcutta, West Bengal.

    abstract::Seven hundred and fifty nine children in different sectors were covered in this study, which was undertaken by observational techniques, questionnaires and physical examination. All children belonged to the age group of 6-14 years. Nearly 30% children had migrated from neighbouring districts and states. Almost 88% wer...

    journal_title:Indian pediatrics

    pub_type: 杂志文章

    doi:

    authors: Banerjee SR

    更新日期:1991-09-01 00:00:00

  • Salmonella senftenberg outbreak in a neonatal unit.

    abstract::Salmonella senftenberg was isolated from the stools of 35 newborns between June, 1987 and September, 1988. Twenty nine (82.8%) babies were preterms and twenty six (74%) babies were less than 2,000 grams in weight. All of them were symptomatic within 6 days of life, 74.3% (26) within 4 days. All of them had loose stool...

    journal_title:Indian pediatrics

    pub_type: 杂志文章

    doi:

    authors: Joseph AT,Rammurty DV,Srivastava L,Gupta R,Mohan M,Anand NK

    更新日期:1990-02-01 00:00:00

  • Birth asphyxia and neurodevelopmental outcome.

    abstract::Thirty six neonates with severe birth asphyxia (Apgar score less than or equal to 3 at 1 min), 32 with moderate birth asphyxia (Apgar score 4 to 6 at 1 min) and 35 controls (Apgar score greater than or equal to 7 at 1 min) matched for weight and gestation were followed up prospectively for neurodevelopmental outcome. ...

    journal_title:Indian pediatrics

    pub_type: 杂志文章

    doi:

    authors: Deorari AK,Paul VK,Singh M

    更新日期:1989-08-01 00:00:00

  • CSF interleukin-1 beta, tumor necrosis factor-alpha and free radicals production in relation to clinical outcome in acute bacterial meningitis.

    abstract:OBJECTIVE:To study the relationship of CSF IL-1 beta and TNF-alpha with free radicals in acute bacterial meningitis (ABM) and to evaluate the clinical outcome in relation to the levels of these cytokines and free radicals in CSF. DESIGN:Prospective with controls. SETTING:Referral unit of a teaching hospital. METHODS...

    journal_title:Indian pediatrics

    pub_type: 杂志文章

    doi:

    authors: Jain M,Aneja S,Mehta G,Ray GN,Batra S,Randhava VS

    更新日期:2000-06-01 00:00:00

  • Newer anti-epileptic drugs.

    abstract:NEED AND PURPOSE OF REVIEW:A number of newer anti-epileptic drugs have been developed in the last few years to improve the treatment outcomes in epilepsy. In this review, we discuss the use of newer anti-epileptic drugs in children. METHODS USED FOR LOCATING, SELECTING, EXTRACTING AND SYNTHESIZING DATA:MEDLINE search ...

    journal_title:Indian pediatrics

    pub_type: 杂志文章,评审

    doi:10.1007/s13312-013-0284-9

    authors: Aneja S,Sharma S

    更新日期:2013-11-08 00:00:00

  • Prevention of hypoglycemia: a controlled evaluation of sugar fortified milk feeding in small-for-gestational age infants.

    abstract::The study population included 110 term healthy small-for-gestational age (SGA) infants having a blood sugar of > 30 mg/dl at the age of < 30 minutes. They were randomized into two groups; (a) Group I (study group) received sugar-fortified milk formula and (b) Group II (control group) received standard milk formula. A ...

    journal_title:Indian pediatrics

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:

    authors: Singhal PK,Singh M,Paul VK,Lamba IM,Malhotra AK,Deorari AK,Ghorpade MD

    更新日期:1992-11-01 00:00:00

  • Thigh circumference at birth as the best predictor of low birth weight babies.

    abstract::The present study was undertaken to find out the best simple anthropometric parameter for identifying low birth weight babies (LBW). A total of 1000 newborn babies were subjected to anthropometry within 48 hours of life. Birth weight was significantly correlated (p less than 0.001) with thigh circumference (TC), mid-a...

    journal_title:Indian pediatrics

    pub_type: 杂志文章

    doi:

    authors: Sharma JN,Saxena S,Sharma U

    更新日期:1989-01-01 00:00:00

  • Antiretroviral therapy in HIV-1 infected children.

    abstract::Highly active antiretroviral therapy is beyond reach of most HIV-infected children in developing countries. There is paucity of data on more affordable regimens such as ones based on nevirapine and 2 nucleoside reverse transcriptase inhibitors. We report our experience with the use of antiretroviral therapy in childre...

    journal_title:Indian pediatrics

    pub_type: 杂志文章

    doi:

    authors: Lodha R,Upadhyay A,Kabra SK

    更新日期:2005-08-01 00:00:00

  • Acute myeloid leukemia presenting as obstructive jaundice.

    abstract::Jaundice as a presenting feature of pediatric acute myeloid leukemia is rare. We report two cases of AML who presented with obstructive jaundice, one with a malignant stricture at the common bile duct and other with a granulocytic sarcoma obstructing the bile duct. The prognosis is poor in these patients. ...

    journal_title:Indian pediatrics

    pub_type: 杂志文章

    doi:

    authors: Rajeswari B,Ninan A,Prasannakumari SN,Parukuttyamma K

    更新日期:2012-05-01 00:00:00

  • 2019 Update on Primary Immunodeficiency Disorders by the International Union of Immunological Societies.

    abstract::International Union of Immunological Societies working group recently updated the human inborn errors of immunity. This classification includes 65 new disorders that have been added since the last classification in 2018. This article highlights the important aspects of new classification for the benefit of general ped...

    journal_title:Indian pediatrics

    pub_type: 杂志文章

    doi:

    authors: Bargir UA,Madkaikar MR

    更新日期:2020-06-15 00:00:00

  • Outcome of very low birth weight infants with abnormal antenatal Doppler flow patterns: a prospective cohort study.

    abstract:BACKGROUND:Fetal growth restriction and abnormal Doppler flow studies are commonly associated. Neonatal outcomes are not well known particularly in developing countries, where the burden of the disease is the highest. OBJECTIVE:To determine outcomes of preterm infants with history of absent/reversed end-diastolic umbi...

    journal_title:Indian pediatrics

    pub_type: 杂志文章

    doi:10.1007/s13312-013-0235-5

    authors: Lakshmi CV,Pramod G,Geeta K,Subramaniam S,Rao MB,Kallapur SG,Murki S

    更新日期:2013-09-01 00:00:00

  • Encephalopathy in type I hyperlipidemia.

    abstract::Familial chylomicronemia syndrome is a group of rare genetic disorders characterized by deficient activity of an enzyme lipoprotein lipase or apo-protein C-II deficiency. In this paper we present an infant with massive hyperchylomicronemia and severe pancreatitis. Exchange transfusion for controlling hypertriglyceride...

    journal_title:Indian pediatrics

    pub_type: 杂志文章

    doi:

    authors: Onal H,Atugluzeybek C,Alhaj S,Altun G

    更新日期:2007-04-01 00:00:00

  • Flexible Fiberoptic Bronchoscopy Directed Interventions in Neonatal Intensive Care Unit.

    abstract:OBJECTIVE:To describe the utility of flexible fiberoptic bronchoscopy for the diagnosis and management in the neonatal ICU. METHODS:A retrospective, medical chart review was conducted in neonates who underwent flexible fiberoptic bronchoscopy over a period of 7 years. Besides demographic data and diagnostic findings, ...

    journal_title:Indian pediatrics

    pub_type: 杂志文章

    doi:

    authors: Sachdev A,Chhawchharia R,Gupta D,Gupta N

    更新日期:2019-07-15 00:00:00

  • Lysinuric Protein Intolerance Presenting with Recurrent Hyperammonemic Encephalopathy.

    abstract:BACKGROUND:Lysinuric protein intolerance is an inherited disorder of transport of cationic amino acids, causing amino aciduria. CASE CHARACTERISTICS:A 3-year-old boy with 12 month history of episodic change in behavior (decreased sleep, poor interaction), stunted growth and hyperammonemia. OUTCOME:Genetic analysis re...

    journal_title:Indian pediatrics

    pub_type: 杂志文章

    doi:10.1007/s13312-016-0920-2

    authors: Bijarnia-Mahay S,Jain V,Bansal RK,Reddy GM,Haberle J

    更新日期:2016-08-08 00:00:00

  • Role of gastric lavage and broncho-alveolar lavage in the bacteriological diagnosis of childhood pulmonary tuberculosis.

    abstract:OBJECTIVE:To compare the mycobacteriological yield from gastric lavage (GL) and bronchoalveolar lavage (BAL), in children with pulmonary tuberculosis. METHODS:58 consecutive children with chest radiograph suggestive of tuberculosis and positive Mantoux test or a positive history of family contact with a case of tuberc...

    journal_title:Indian pediatrics

    pub_type: 杂志文章

    doi:

    authors: Singh M,Moosa NV,Kumar L,Sharma M

    更新日期:2000-09-01 00:00:00

  • Macroorchidism: consequence of untreated congenital adrenal hyperplasia.

    abstract::Testicular adrenal rest tumors (TART) are consequences of delayed diagnosis and/or undertreatment in patients with congenital adrenal hyperplasia (CAH). We describe a case of CAH with TART who presented with bilateral macroorchidism. He was managed with glucocorticoids which led to decrease in testicular size without ...

    journal_title:Indian pediatrics

    pub_type: 杂志文章

    doi:10.1007/s13312-012-0096-3

    authors: Rastogi A,Walia R,Saikia UN,Bhansali A

    更新日期:2012-07-01 00:00:00

  • Posterior Reversible Encephalopathy Syndrome Complicating Diabetic Ketoacidosis.

    abstract:BACKGROUND:Posterior reversible encephalopathy syndrome (PRES) is a benign disorder of reversible subcortical vasogenic cerebral edema. CASE CHARACTERISTICS:A 13-yr-old girl presented 4 days after complete recovery from diabetic ketoacidosis with symptoms of headache, altered sensorium, seizures, and visual loss. Ther...

    journal_title:Indian pediatrics

    pub_type: 杂志文章

    doi:

    authors: Sathyanarayana SO,Sreenivas PK,Uddappa AM

    更新日期:2019-03-15 00:00:00

  • Calf circumference as a predictor of low birth weight babies.

    abstract::To identify an inexpensive, reliable predictor of low birth weight capable of being utilized by untrained personnel, anthropometric measures were performed on 1600 newborns in Kanpur, India. This analysis indicated that, for a birth weight of 2500 g, the critical limit of calf circumference was 10.8 cm or less. Crit...

    journal_title:Indian pediatrics

    pub_type: 杂志文章

    doi:

    authors: Gupta V,Hatwal SK,Mathur S,Tripathi VN,Sharma SN,Saxena SC,Khadwal A

    更新日期:1996-02-01 00:00:00

  • Association of Rotavirus Gastroenteritis with Histo-blood Group Antigens.

    abstract::Association of rotavirus gastroenteritis with histo-blood group antigens in children younger than 5 years admitted with diarrhea (n=389) was studied. Distribution of blood groups in rotavirus positive (n=96) and rotavirus negative (n=51) diarrhea gastroenteritis cases did not show any susceptibility to any blood group...

    journal_title:Indian pediatrics

    pub_type: 杂志文章

    doi:

    authors: Mohanty E,Dwibedi B,Kar SK,Pandey RM

    更新日期:2016-07-08 00:00:00

  • Neonatal behavior in full-term small for date.

    abstract::Fifty newborns, 25 full term SFDs (small for date) and 25 full term AGAs (appropriate for gestational age) were taken up for comparative study of their behavior using BNBAS (Brazelton's neonatal behavior assessment scale). The study revealed that full term SFDs performed significantly poorly on all items under cluster...

    journal_title:Indian pediatrics

    pub_type: 杂志文章

    doi:

    authors: Abrol P,Kapoor R,Gathwala G,Tiwari S,Tiwari AD

    更新日期:1994-07-01 00:00:00

  • Severe calcinosis cutis with cutaneous ulceration in juvenile dermatomyositis.

    abstract:BACKGROUND:Calcinosis cutis is usually seen in long standing and untreated cases of juvenile dermatomyositis. CASE CHARACTERISTICS:7-year-old girl with severe calcinosis cutis who developed cutaneous ulceration, rash and myopathy. OBSERVATION:Myopathic changes in EMG, muscle edema in MRI, elevated muscle enzymes and ...

    journal_title:Indian pediatrics

    pub_type: 杂志文章

    doi:10.1007/s13312-014-0531-8

    authors: Meher BK,Mishra P,Sivaraj P,Padhan P

    更新日期:2014-11-01 00:00:00