White matter changes in GM1 gangliosidosis.

Abstract:

BACKGROUND:GM1 gangliosidosis is a disorder due to GLB1 gene mutation. CASE CHARACTERISTICS:A 4-yr-old boy with neuroregression and optic atrophy with periventricular hyperintensity on magnetic resonance imaging. OUTCOME:Beta galactosidase enzyme activity was low which was confirmed by GLB1 sequencing. MESSAGE:We highlight the white matter changes in late infantile GM1 gangliosidosis.

journal_name

Indian Pediatr

journal_title

Indian pediatrics

authors

Tuteja M,Bidchol AM,Girisha KM,Phadke S

doi

10.1007/s13312-015-0593-2

subject

Has Abstract

pub_date

2015-02-01 00:00:00

pages

155-6

issue

2

eissn

0019-6061

issn

0974-7559

journal_volume

52

pub_type

杂志文章
  • Polymerase chain reaction in the diagnosis of tuberculosis.

    abstract:OBJECTIVES:To evaluate efficacy of polymerase chain reaction (PCR), using the insertion sequence IS6110 as target for DNA, to detect Mycobacterium tuberculosis in body fluids of children with suspected tuberculosis (TB). SETTING:Hospitalized patients. METHODS:A comparison of PCR on body fluids, Acid Fast Bacilli stai...

    journal_title:Indian pediatrics

    pub_type: 杂志文章

    doi:

    authors: Jatana SK,Nair MN,Lahiri KK,Sarin NP

    更新日期:2000-04-01 00:00:00

  • Reducing use of injections through interactional group discussions: a randomized controlled trial.

    abstract:OBJECTIVE:To determine whether interactional group discussions could reduce prescriptions of injections by physicians. STUDY DESIGN:Randomized controlled trial. SETTING:Rural public health care facilities, North 24 Parganas district, West Bengal, India. SUBJECTS:72 medical officers, 36 each in intervention and contr...

    journal_title:Indian pediatrics

    pub_type: 杂志文章,随机对照试验

    doi:10.1007/s13312-010-0076-4

    authors: Bhunia R,Hutin Y,Ramkrishnan R,Ghosh PK,Dey S,Murhekar M

    更新日期:2010-05-01 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

  • Retinal hemorrhages in newborn.

    abstract::Two hundred and fifty eight newborn babies were studied for the presence of retinal hemorrhages between 1-3 days of birth. The overall incidence of retinal hemorrhages was found to be 18.9%. It was observed that the incidence of retinal hemorrhages was higher in unassisted vaginal deliveries than in assisted births. A...

    journal_title:Indian pediatrics

    pub_type: 杂志文章

    doi:

    authors: Govind A,Kumari S,Lath NK

    更新日期:1989-02-01 00:00:00

  • Mucoepidermoid Carcinoma of Parotid as a Second Malignancy in Acute Lymphoblastic Leukemia.

    abstract:BACKGROUND:Improved survival seen in Acute Lymphoblastic Leukemia (ALL) cases has led to increased reports of second malignant neoplasms. CASE CHARACTERISTICS:A 12-year-old female treated for ALL using UK ALL XI protocol nine years back presented with progressively increasing pre-auricular swelling. OBSERVATION:Inves...

    journal_title:Indian pediatrics

    pub_type: 杂志文章

    doi:10.1007/s13312-015-0757-0

    authors: Tikku G,Jain D,Kumari A,Grover R

    更新日期:2015-11-01 00:00:00

  • Non-Autoimmune Subclinical and Overt Hypothyroidism in Idiopathic Steroid-resistant Nephrotic Syndrome in Children.

    abstract:OBJECTIVE:To evaluate the frequency of non-autoimmune subclinical and overt hypothyroidism in children with idiopathic steroid-resistant nephrotic syndrome (SRNS). METHODS:This cross-sectional study recruited 30 children (age 1-18 y) with idiopathic SRNS; and 30 healthy controls. Serum T3, T4 and TSH were performed in...

    journal_title:Indian pediatrics

    pub_type: 杂志文章

    doi:10.1007/s13312-017-1183-2

    authors: Marimuthu V,Krishnamurthy S,Rajappa M

    更新日期:2017-11-15 00:00:00

  • Pre exchange Albumin Administration in Neonates with Hyperbilirubinemia: A Randomized Controlled Trial.

    abstract:OBJECTIVE:To evaluate the efficacy of pre-exchange transfusion albumin priming in neonates with non-hemolytic hyperbilirubinemia. DESIGN:Single center, randomized controlled trial. SETTING:Level III Neonatal unit. PARTICIPANTS:Fifty healthy term and late preterm neonates with non-hemolytic hyperbilirubinemia requiri...

    journal_title:Indian pediatrics

    pub_type: 杂志文章,随机对照试验

    doi:10.1007/s13312-015-0713-z

    authors: Dash N,Kumar P,Sundaram V,Attri SV

    更新日期:2015-09-01 00:00:00

  • Infant mortality in Rajasthan villages.

    abstract::Social, cultural and economic factors, beside medical causes, contribute to the high percentage of infant mortality in India. This study was carried out in 12 villages in the area of the Rural Health Training Centre, Naila, India; all villages were being regularly visited by paramedical staff and doctors. During 197...

    journal_title:Indian pediatrics

    pub_type: 杂志文章

    doi:

    authors: Gupta SD,Jain TP,Joshi S,Mangal DK

    更新日期:1981-02-01 00:00:00

  • Delayed diagnosis for undescended testes.

    abstract::Delayed diagnosis of undescended testes is a major problem. A retrospective review of 298 testes units was performed to assess the age at referral, age at operation, complications and final outcome. The mean age at referral was 57 months. Only 24% of cases were operated below 2 years. A similar pattern of delayed orch...

    journal_title:Indian pediatrics

    pub_type: 杂志文章

    doi:

    authors: Sinha CK,Vinay S,Kulkarni R,Nour S

    更新日期:2008-06-01 00:00:00

  • Association between dietary habits and asthma severity in children.

    abstract:OBJECTIVE:To investigate association between dietary habits and asthma severity in children. DESIGN:Cross-sectional study. SETTING:Two teaching hospitals in Brazil. PARTICIPANTS:Cases (n=268) were children (3-12yr) with persistent asthma and age-matched controls (n=126) were those with intermittent asthma. MAIN OUT...

    journal_title:Indian pediatrics

    pub_type: 杂志文章

    doi:10.1007/s13312-015-0561-x

    authors: Silveira DH,Zhang L,Prietsch SO,Vecchi AA,Susin LR

    更新日期:2015-01-01 00:00:00

  • Comparison of JSS Formula with Modified Shukla's Formula for Insertion of Umbilical Venous Catheter: A Randomized Controlled Study.

    abstract:OBJECTIVE:To compare the rate of optimal position of UVC between modified Shukla's formula and JSS formula. METHODS:Babies requiring umbilical vein catheterization were randomized to either Shukla or JSS formula group. Post-procedure X-ray was taken to check the tip position. Tip of the UVC just above the diaphragm (T...

    journal_title:Indian pediatrics

    pub_type: 杂志文章,随机对照试验

    doi:

    authors: Krishnegowda S,Thandaveshwar D,Mahadevaswamy M,Doreswamy SM

    更新日期:2019-03-15 00:00:00

  • Vitamin a status of pregnant women and effect of post partum vitamin a supplementation.

    abstract:OBJECTIVE:To assess the Vitamin A status of pregnant women in their third trimester using maternal serum retinol levels as the indicator; and (ii) To assess the impact of postpartum Vitamin A supplementation on the Vitamin A status of exclusively breastfed infants. DESIGN:Prospective randomized single blind controlled...

    journal_title:Indian pediatrics

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:

    authors: Vinutha B,Mehta MN,Shanbag P

    更新日期:2000-11-01 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

  • Reactogenecity of indigenously produced measles vaccine.

    abstract:OBJECTIVE:To assess the safety and reactogenecity of indigenously produced measles vaccine derived from EZ strain. DESIGN:A longitudinal clinical follow up after vaccination. SETTING:Hospital based and home follow up, as required. SUBJECTS:12,470 children, 9 to 15 months old, immunized with measles vaccine of EZ str...

    journal_title:Indian pediatrics

    pub_type: 杂志文章

    doi:

    authors: Bhargava I,Chhaparwal BC,Phadke MA,Irani SF,Chakladhar BK,Maheshwari CP

    更新日期:1996-10-01 00:00:00

  • Assessment of a modified Mini-Mental Scale for cognitive functions in children.

    abstract::This study was conducted to standardize a clinical test to assess cognitive functions in children between 3-14 years and to evaluate its use in patients with encephalopathy. We included 50 children in Group A with non-neurological illness. Another 50 children were included in Group B with encephalopathy due to varied ...

    journal_title:Indian pediatrics

    pub_type: 临床试验,杂志文章

    doi:

    authors: Jain M,Passi GR

    更新日期:2005-09-01 00:00:00

  • Can nutrition rehabilitation centers address severe malnutrition in India?

    abstract::Madhya Pradesh has made remarkable progress in facility based management of severe acute malnutrition, and has developed a model that is being replicated in many states. India has uniquely high prevalence of both stunting and wasting, implying that both severe acute malnutrition and severe chronic malnutrition co-exis...

    journal_title:Indian pediatrics

    pub_type: 杂志文章

    doi:10.1007/s13312-014-0341-z

    authors: Dasgupta R,Ahuja S,Yumnam V

    更新日期:2014-02-01 00:00:00

  • Etiology and Short-term Outcome of First Seizure in Hospitalized Infants.

    abstract::We enrolled 75 consecutive infants presenting with history of first seizure at a tertiary care hospital in New Delhi, India. Clinical and biochemical work-up for etiology, and electroencephalography were performed in all infants. Developmental assessment was done 3-month after discharge. 72% had generalized seizures, ...

    journal_title:Indian pediatrics

    pub_type: 杂志文章

    doi:

    authors: Nikunj NK,Mishra D,Juneja M,Talukdar B

    更新日期:2016-10-08 00:00:00

  • Hemostatic profile in nephrotic syndrome.

    abstract:OBJECTIVE:To evaluate the coagulation profile and its relation to steroid therapy, and the frequency of thromboembolic complications and its correlation with coagulation parameters in nephrotic syndrome (NS). SETTING:Hospital based. SUBJECTS AND METHODS:Forty children with NS were subdivided into four groups, namely,...

    journal_title:Indian pediatrics

    pub_type: 杂志文章

    doi:

    authors: Anand NK,Chand G,Talib VH,Chellani H,Pande J

    更新日期:1996-12-01 00:00:00

  • Biochemical assessment of iodine deficiency disorders in Baroda and Dang districts of Gujarat State.

    abstract:OBJECTIVE:(i) To assess the severity of Iodine Deficiency Disorders (DD) in Baroda and Dang Districts of Gujarat, using biochemical prevalence indicators of IDD; and (ii) To establish a biochemical baseline, in a sub-sample of the large population of Gujarat, that could be used to monitor the effectiveness of iodine re...

    journal_title:Indian pediatrics

    pub_type: 杂志文章

    doi:

    authors: Brahmbhatt SR,Fearnley RA,Brahmbhatt RM,Eastman CJ,Boyages SG

    更新日期:2001-03-01 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

  • Lessons from improved neonatal survival at Chandigarh.

    abstract::We observed a significant fall in neonatal mortality in babies weighing less than 2 kg during 1986 as compared to 1973 (7.94% vs 12.88%; p less than 0.005), and in preterm babies the mortality fell from 26.88 to 11.5% (p less than 0.001) during 1986. This was achieved despite 2-3 fold increase in the high risk babies ...

    journal_title:Indian pediatrics

    pub_type: 杂志文章

    doi:

    authors: Bhakoo ON,Khajuria R,Desai A,Narang A

    更新日期:1989-03-01 00:00:00

  • Comparative evaluation of calf, thigh and arm circumferences in detecting low birth weight infants--Part II.

    abstract::In an earlier study usefulness and validity of calf circumference in the identification of low birth weight (LBW) infants was reported. To evolve a simple indicator in identifying LBW in community, comparative evaluation of three simple measurements, i.e., circumferences of calf (CC), thigh (TC) and arm (AC) was done ...

    journal_title:Indian pediatrics

    pub_type: 杂志文章

    doi:

    authors: Raman L,Neela J,Balakrishna N

    更新日期:1992-04-01 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

  • Insulin resistance and beta cell function in chronically transfused patients of thalassemia major.

    abstract:OBJECTIVE:To assess the glycometabolic function in chronically transfused patients of beta- thalassemia major in terms of glucose tolerance, insulin secretion, insulin resistance index, and beta cell function index and to determine their relationship with clinical and biochemical profile. METHODS:30 homozygous thalass...

    journal_title:Indian pediatrics

    pub_type: 杂志文章

    doi:

    authors: Suvarna J,Ingle H,Deshmukh CT

    更新日期:2006-05-01 00:00:00

  • Immunization status in paralytic poliomyelitis--a hospital based study.

    abstract::Six hundred and forty six cases in the age group 8-14 years suffering from paralytic poliomyelitis were analysed to find out the immunization status and its correlation with the incidence of poliomyelitis. In 382 cases where the immunization status was known, it was found that 325 (85.02%) cases were not immunized, 23...

    journal_title:Indian pediatrics

    pub_type: 杂志文章

    doi:

    authors: Srivastava VK,Laisram N,Srivastava RK

    更新日期:1989-05-01 00:00:00

  • Occupational morbidity among children employed in brassware industry.

    abstract::Fifty seven male children between ages of 10-16 years engaged in the brassware industry at Moradabad in Northern India were studied for occupational morbidity. The finding were compared with those obtained in the children (n = 29) engaged in other ancillary units which did not involve exposure to the metal fumes and d...

    journal_title:Indian pediatrics

    pub_type: 杂志文章

    doi:

    authors: Bihari V,Rastogi SK,Gupta BN,Husain T,Mathur N,Mahendra PN,Srivastava S,Garg N

    更新日期:1992-02-01 00:00:00

  • Clinical profile and outcome of swine flu in Indian children.

    abstract:OBJECTIVE:To describe the clinical characteristics and outcome of Indian children infected with 2009 H1N1 influenza virus. STUDY DESIGN:Retrospective chart review. SETTING:Outpatient department and hospitalized patients in a tertiary care hospital. METHODS:Clinical details of 85 children (positive for the 2009 H1N1 ...

    journal_title:Indian pediatrics

    pub_type: 杂志文章

    doi:10.1007/s13312-011-0085-y

    authors: Das RR,Sami A,Lodha R,Jain R,Broor S,Kaushik S,Singh BB,Ahmed M,Seth R,Kabra SK

    更新日期:2011-05-01 00:00:00

  • Investigation of an epidemic of Reye's syndrome in northern region of India.

    abstract:OBJECTIVE:To determine the extent, epidemiological and clinical features of an epidemic of non-inflammatory encephalopathy in northern region of India. DESIGN:Surveillance of referred cases having unconsciousness after a short bout of fever during October and November 1997. Case control study in 7 most affected villag...

    journal_title:Indian pediatrics

    pub_type: 杂志文章

    doi:

    authors: Ghosh D,Dhadwal D,Aggarwal A,Mitra S,Garg SK,Kumar R,Kaur B

    更新日期:1999-11-01 00:00:00

  • Hearing assessment by brainstem auditory evoked responses (BAER) in neonates at risk.

    abstract::In the present study, brainstorm auditory evoked responses (BAER) were recorded in 68 at risk neonates discharged from the neonatal ICU of Safdarjung Hospital. The high risk group of 35 neonates included 13 neonates with multiple (3-4) risk factors and 22 neonates with single risk factors, viz., prematurity (less than...

    journal_title:Indian pediatrics

    pub_type: 杂志文章

    doi:

    authors: Raj H,Gupta AK,Anand NK

    更新日期:1991-10-01 00:00:00

  • Surfactant replacement therapy in extremely low gestational age newborns.

    abstract::There is a growing body of evidence over the last years suggesting continuous positive airway pressure (CPAP) ventilation being the first choice of ventilatory support in newborns with extremely low gestational age, and early rescue surfactant treatment being as effective as prophylactic therapy. The Intubation Surfac...

    journal_title:Indian pediatrics

    pub_type: 杂志文章

    doi:10.1007/s13312-015-0612-3

    authors: Eibisberger M,Resch E,Resch B

    更新日期:2015-03-08 00:00:00