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  1. AU="Gambhir, Prakash S"
  2. AU="El-Sayed, Saad A."
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  1. Article ; Online: Familial amelia as reported by Michaud et al. (OMIM-601360): one more patient endorsing the phenotype.

    Gambhir, Prakash S

    Clinical dysmorphology

    2014  Volume 23, Issue 4, Page(s) 130–132

    MeSH term(s) Ectromelia/pathology ; Family ; Female ; Humans ; Karyotyping ; Male ; Phenotype ; Pregnancy
    Language English
    Publishing date 2014-10
    Publishing country England
    Document type Case Reports ; Journal Article
    ZDB-ID 1121482-x
    ISSN 1473-5717 ; 0962-8827
    ISSN (online) 1473-5717
    ISSN 0962-8827
    DOI 10.1097/MCD.0000000000000049
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 3528: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
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    Jg. 1995 - 2021: Lesesall (2.OG)
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  2. Article ; Online: Is chromium from stainless steel utensils responsible for epidemic of type 2 diabetes?

    Gambhir, Prakash S / Phadke, Mrudula A

    Medical hypotheses

    2011  Volume 77, Issue 1, Page(s) 84–86

    Abstract: Type 2 diabetes prevalence is rising rapidly in developing world especially in India in last few decades. 'Thrifty phenotype' and 'westernization of lifestyle' is used to explain this epidemic. Chromium is an important modulator in insulin and glucose ... ...

    Abstract Type 2 diabetes prevalence is rising rapidly in developing world especially in India in last few decades. 'Thrifty phenotype' and 'westernization of lifestyle' is used to explain this epidemic. Chromium is an important modulator in insulin and glucose metabolism. Preconceptional chromium exposure has been demonstrated to raise the corticosterone and glucose levels in offspring of rodent model. Chromium is chelated when acidic food is stored in the stainless steel utensils. Chromium levels are shown to be high in Asian Indians. The hyperinsulinemia and insulin resistance is demonstrated in Indians from the newborn stage. We hypothesize that increased exposure to chromium in preconceptional and/or fetal stage leads to altered epigenetic control and altered endocrine and metabolic functioning. Increasing urbanization has led to increasing use of stainless steel and resultant exposure to chromium is at the least partly responsible for rising prevalence of type 2 diabetes. If proven avoiding or modifying the use of stainless steel utensils will halt the present epidemic of type 2 diabetes.
    MeSH term(s) Blood Glucose/analysis ; Chromium/toxicity ; Corticosterone/blood ; Diabetes Mellitus, Type 2/chemically induced ; Diabetes Mellitus, Type 2/epidemiology ; Humans ; India/epidemiology ; Insulin/blood ; Insulin Resistance ; Life Style ; Models, Theoretical ; Prevalence ; Stainless Steel/chemistry
    Chemical Substances Blood Glucose ; Insulin ; Chromium (0R0008Q3JB) ; Stainless Steel (12597-68-1) ; Corticosterone (W980KJ009P)
    Language English
    Publishing date 2011-07
    Publishing country United States
    Document type Journal Article
    ZDB-ID 193145-3
    ISSN 1532-2777 ; 0306-9877
    ISSN (online) 1532-2777
    ISSN 0306-9877
    DOI 10.1016/j.mehy.2011.03.032
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 1132: Show issues Location:
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  3. Article ; Online: Craniomicromelic syndrome: first report in a male.

    Gambhir, Prakash S / Gambhir, Sunita

    American journal of medical genetics. Part A

    2011  Volume 155A, Issue 3, Page(s) 586–588

    Abstract: We report on craniomicromelic syndrome in a male fetus. This case had the previously reported features of prenatal onset growth retardation, underossified cranial bones, wide sutures and fontanels, small face as compared to head, small palpebral fissures, ...

    Abstract We report on craniomicromelic syndrome in a male fetus. This case had the previously reported features of prenatal onset growth retardation, underossified cranial bones, wide sutures and fontanels, small face as compared to head, small palpebral fissures, pinched nose, microstomia, micrognathia, and narrow thorax. The consistent combination of these features with short appearing limbs as observed in this case establishes this syndrome as a distinct entity.
    MeSH term(s) Abnormalities, Multiple/diagnostic imaging ; Abnormalities, Multiple/pathology ; Fetus/abnormalities ; Fetus/diagnostic imaging ; Humans ; Male ; Radiography ; Skull/abnormalities ; Skull/diagnostic imaging ; Syndrome
    Language English
    Publishing date 2011-02-18
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 1493479-6
    ISSN 1552-4833 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 1552-4825
    DOI 10.1002/ajmg.a.33451
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article: Chronic umbilical cord entanglements causing intrauterine fetal demise in the second trimester.

    Gambhir, Prakash S / Gupte, Sanjay / Kamat, Amit D / Patankar, Amit / Kulkarni, Vinayak D / Phadke, Mrudula A

    Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society

    2011  Volume 14, Issue 3, Page(s) 252–254

    Abstract: Entanglement of the umbilical cord with fetal body parts is known to occur in early pregnancy. This can potentially compromise the cord blood flow and cause fetal demise. We report 3 instances of intrauterine fetal deaths in the 2nd trimester of ... ...

    Abstract Entanglement of the umbilical cord with fetal body parts is known to occur in early pregnancy. This can potentially compromise the cord blood flow and cause fetal demise. We report 3 instances of intrauterine fetal deaths in the 2nd trimester of pregnancy with longstanding cord entanglement. The cord had left impressions of entanglement on the entrapped growing fetal part. Restricted movements of the fetus due to cord entanglement led to reduced spiraling of the umbilical cord. Our case series demonstrates that tight entanglement of fetal body parts by the umbilical cord can cause fetal demise in the 2nd trimester. This event is associated with a straight umbilical cord. Thus, the presence of reduced spiraling in intrauterine fetal demise warrants a search for possible cord entanglement along with established causes, such as chromosomal and congenital anomalies.
    MeSH term(s) Female ; Fetal Death/etiology ; Fetal Death/pathology ; Humans ; Male ; Pregnancy ; Pregnancy Complications/pathology ; Pregnancy Trimester, Second ; Umbilical Cord/pathology
    Language English
    Publishing date 2011-05
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 1463498-3
    ISSN 1615-5742 ; 1093-5266
    ISSN (online) 1615-5742
    ISSN 1093-5266
    DOI 10.2350/10-06-0846-CR.1
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 5063: Show issues Location:
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  5. Article ; Online: Plasma chitotriosidase activity in children with lysosomal storage disorders.

    Sheth, Jayesh J / Sheth, Frenny J / Oza, Nrupesh J / Gambhir, Prakash S / Dave, Usha P / Shah, Raju C

    Indian journal of pediatrics

    2009  Volume 77, Issue 2, Page(s) 203–205

    Abstract: Chitotriosidase (ChT) is an enzyme that is selectively activated in tissue macrophage. This property of ChT makes it a potential marker for many disease process and prognostication. Present study has been carried out to know the significance of ChT as a ... ...

    Abstract Chitotriosidase (ChT) is an enzyme that is selectively activated in tissue macrophage. This property of ChT makes it a potential marker for many disease process and prognostication. Present study has been carried out to know the significance of ChT as a screening marker in lysosomal storage disorders (LSDs) where tissue macrophage activation is commonly observed due to accumulation of substrate in various organs of the body. Study comprises of 20 healthy children in the age range of 10 days to 5 yrs and 56 children in the age range of 2.5 months to 13 yrs with regression of milestones, skeletal dysplasia, neuroregression and hepatosplenomegaly were selected for plasma ChT who had confirmed LSDs as carried out by specific lysosomal enzyme study from the leukocytes or fibroblasts. Plasma ChT was 55.21 +/- 20.81 nmol/ml/hr in twenty healthy age matched controls. Plasma ChT level was 42.88 to 79.78 nmol/ml/hr in thirteen of 56 (23.21%) children with LSDs like Morquio-B, Pompe, Metachromatic leucodystrophy (MLD), Sandhoff and Niemann-Pick disease type C (NPD-C). While in 43 (76.78%) children it was in the range of 213.74 to 23,511.40 nmol/ml/hr. who had LSDs like Morquio-B, Sly syndrome, MLD, GM2 Gangliosidosis, NPD-A/B and Gaucher disease (GD). Marked elevated ChT (4,000 to 23,511 nmol/ml/hr) was observed in all cases of GD (n=7) and NDP-A/B. It can be concluded from the present study that moderately raised activity of ChT can be utilized as a positive predictive test for certain LSD's. Those with marked elevated ChT have confirmed GD or NPD-A/B making it a strong screening marker for this group of diseases.
    MeSH term(s) Adolescent ; Child ; Child, Preschool ; Female ; Hexosaminidases/blood ; Hexosaminidases/metabolism ; Humans ; Infant ; Lysosomal Storage Diseases/enzymology ; Male
    Chemical Substances Hexosaminidases (EC 3.2.1.-) ; chitotriosidase (EC 3.2.1.-)
    Language English
    Publishing date 2009-11-20
    Publishing country India
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 218231-2
    ISSN 0973-7693 ; 0019-5456
    ISSN (online) 0973-7693
    ISSN 0019-5456
    DOI 10.1007/s12098-009-0249-0
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 826: Show issues Location:
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  6. Article: Genomewide scan for nonsyndromic cleft lip and palate in multigenerational Indian families reveals significant evidence of linkage at 13q33.1-34.

    Radhakrishna, Uppala / Ratnamala, Uppala / Gaines, Mathew / Beiraghi, Soraya / Hutchings, David / Golla, Jeffrey / Husain, Syed A / Gambhir, Prakash S / Sheth, Jayesh J / Sheth, Frenny J / Chetan, Ghati K / Naveed, Mohammed / Solanki, Jitendra V / Patel, Uday C / Master, Dilipkumar C / Memon, Rafiq / Antonarakis, Gregory S / Antonarakis, Stylianos E / Nath, Swapan K

    American journal of human genetics

    2006  Volume 79, Issue 3, Page(s) 580–585

    Abstract: Nonsyndromic cleft lip with or without cleft palate (CL-P) is a common congenital anomaly with incidence ranging from 1 in 300 to 1 in 2,500 live births. We analyzed two Indian pedigrees (UR017 and UR019) with isolated, nonsyndromic CL-P, in which the ... ...

    Abstract Nonsyndromic cleft lip with or without cleft palate (CL-P) is a common congenital anomaly with incidence ranging from 1 in 300 to 1 in 2,500 live births. We analyzed two Indian pedigrees (UR017 and UR019) with isolated, nonsyndromic CL-P, in which the anomaly segregates as an autosomal dominant trait. The phenotype was variable, ranging from unilateral to bilateral CL-P. A genomewide linkage scan that used approximately 10,000 SNPs was performed. Nonparametric linkage (NPL) analysis identified 11 genomic regions (NPL>3.5; P<.005) that could potentially harbor CL-P susceptibility variations. Among those, the most significant evidence was for chromosome 13q33.1-34 at marker rs1830756 (NPL=5.57; P=.00024). This was also supported by parametric linkage; MOD score (LOD scores maximized over genetic model parameters) analysis favored an autosomal dominant model. The maximum LOD score was 4.45, and heterogeneity LOD was 4.45 (alpha =100%). Haplotype analysis with informative crossovers enabled the mapping of the CL-P locus to a region of approximately 20.17 cM (7.42 Mb) between SNPs rs951095 and rs726455. Thus, we have identified a novel genomic region on 13q33.1-34 that harbors a high-risk variant for CL-P in these Indian families.
    MeSH term(s) Chromosomes, Human, Pair 13/genetics ; Cleft Lip/genetics ; Cleft Palate/genetics ; Genetic Linkage ; Genome, Human ; Haplotypes ; Humans ; India ; Pedigree ; Physical Chromosome Mapping
    Language English
    Publishing date 2006-07-21
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 219384-x
    ISSN 1537-6605 ; 0002-9297
    ISSN (online) 1537-6605
    ISSN 0002-9297
    DOI 10.1086/507487
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 107: Show issues Location:
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