Imprinted Anomalies in Fetal and Childhood Growth Disorders: The Model of Russell-Silver and Beckwith-Wiedemann Syndromes

2012 ◽  
pp. 60-70 ◽  
Author(s):  
Irène Netchine ◽  
Sylvie Rossignol ◽  
Salah Azzi ◽  
Fréderic Brioude ◽  
Yves Le Bouc
Keyword(s):  
Growth Disorders ◽  
Childhood Growth

MICROCHEMICAL ANALYSIS OF HUMAN TIBIAL GROWTH CARTILAGE IN VARIOUS FORMS OF DWARFISM

1972 ◽  
Vol 69 (4) ◽  
pp. 659-688 ◽  
Author(s):  
V. Stanescu ◽  
R. Stanescu ◽  
J. A. Szirmai
Keyword(s):  
Growth Plate ◽  
Chondroitin Sulphate ◽  
Epiphyseal Plate ◽  
Molecular Characteristics ◽  
Growth Disorders ◽  
Normal Children ◽  
Collagen Concentration ◽  
Vitamin D Resistant Rickets ◽  
Pooled Samples ◽  
Tibial Epiphyseal

ABSTRACT Microchemical determinations of glycosaminoglycans and collagen were preformed in isolated histological zones from sections of tibial epiphyseal plate biopsies obtained from children with growth disorders (pituitary dwarfism, congenital myxoedema, Turner's syndrome, Noonan's syndrome, mucopolysaccharidosis type VI, vitamin D resistant rickets and achondroplasia). Alternate sections were used for histochemical localization of glycosaminoglycans and proteins. The values were compared with those found in comparable zones of the growth plate from normal children of the same age. The chondroitin sulphate concentration (% of defatted dry wt.) in the normal epiphyseal plate increased from the resting zone towards the proliferating/hypertrophic zone; collagen exhibited a reverse trend. In some of the pathological biopsies the concentration of chondroitin sulphate was slightly decreased whereas that of collagen was slightly increased. A marked increase in the collagen concentration was found in achondroplasia. The solubility profiles of the cetylpyridinium complexes of the chondroitin sulphate fraction showed three main peaks with slight but characteristic differences in the various zones of the normal cartilage plate. Significant shifts in the proportion of these peaks were observed in several pathological biopsies, indicating possible deviations from the normal molecular characteristics of the chondroitin sulphate. Analysis of the main chondroitin sulphate fraction, obtained from pooled samples of normal tibial growth plate after fractionation on the macroscale, indicated that all three peaks contained both chondroitin-4 sulphate and chondroitin-6 sulphate and that they probably differed in their molecular weight.

1416-P: Impact of Birth Weight Category on Early Childhood Growth in the Offspring of Women with Diabetes

Diabetes ◽  
2019 ◽  
Vol 68 (Supplement 1) ◽  
pp. 1416-P
Author(s):  
MAISA N. FEGHALI ◽  
STEVE CARITIS ◽  
CHRISTINA M. SCIFRES
Keyword(s):  
Early Childhood ◽  
Birth Weight ◽  
Weight Category ◽  
Childhood Growth

scholarly journals Long term alterations of growth after antenatal steroids in preterm twin pregnancies

2020 ◽  
Vol 0 (0) ◽  
Author(s):  
Thorsten Braun ◽  
Vivien Filleböck ◽  
Boris Metze ◽  
Christoph Bührer ◽  
Andreas Plagemann ◽  
...  
Keyword(s):  
Early Childhood ◽  
Disease Risk ◽  
Later Life ◽  
Ponderal Index ◽  
Childhood Growth ◽  
Antenatal Steroids ◽  
Increased Risk ◽  
Infancy And Early Childhood ◽  
Twin Pregnancies

AbstractObjectivesTo compare the long-term effects of antenatal betamethasone (ANS, ≤16 mg, =24 mg and >24 mg) in twins on infant and childhood growth.MethodsA retrospective cohort follow up study among 198 twins after ANS including three time points: U1 first neonatal examination after birth and in the neonatal period; U7 examination from the 21st to the 24th month of life and U9 examination from the 60th to the 64th month of life using data from copies of the children’s examination booklets. Inclusion criteria are twin pregnancies with preterm labor, cervical shortening, preterm premature rupture of membranes, or vaginal bleeding, and exposure to ANS between 23+5 and 33+6 weeks. Outcome measures are dosage-dependent and sex-specific effects of ANS on growth (body weight, body length, head circumference, body mass index and ponderal index) up to 5.3 years.ResultsOverall, 99 live-born twin pairs were included. Negative effects of ANS on fetal growth persisted beyond birth, altered infant and childhood growth, independent of possible confounding factors. Overall weight percentile significantly decreased between infancy and early childhood by 18.8%. Birth weight percentiles significantly changed in a dose dependent and sex specific manner, most obviously in female-female and mixed pairs. The ponderal index significantly decreased up to 42.9%, BMI index increased by up to 33.8%.ConclusionsANS results in long-term alterations in infant and childhood growth. Changes between infancy and early childhood in ponderal mass index and BMI, independent of dose or twin pair structure, might indicate an ANS associated increased risk for later life disease.SynopsisFirst-time report on long-term ANS administration growth effects in twin pregnancies, showing persisting alterations beyond birth in infant and childhood growth up to 5.3 years as potential indicator of later life disease risk.

Efficacy and safety of denosumab treatment in a prepubertal patient with cherubism

2020 ◽  
Vol 33 (7) ◽  
pp. 963-966
Author(s):  
Haruka Kawamura ◽  
Satoshi Watanabe ◽  
Takashi I ◽  
Izumi Asahina ◽  
Hiroyuki Moriuchi ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Therapeutic Potential ◽  
Giant Cells ◽  
Efficacy And Safety ◽  
Autosomal Dominant Disorder ◽  
Osteolytic Lesions ◽  
Case Presentation ◽  
Childhood Growth ◽  
Receptor Activator ◽  
Denosumab Treatment

AbstractBackgroundDenosumab is an inhibitor of receptor activator of nuclear factor kappa-B ligand, which strongly suppresses osteoclasts. Cherubism is a rare autosomal dominant disorder characterized by symmetrical swelling of the jaws, in which the bone is replaced by a fibrous granuloma containing osteoclast-like giant cells.Case presentationWe report the efficacy and safety of denosumab treatment in a prepubertal boy with progressive cherubism. The treatment consisting of eight subcutaneous denosumab injections (120 mg/dose) in 6 months not only suppressed the expansion of the osteolytic lesions but also dramatically ossified them. However, a transiently decreased growth rate and rebounded asymptomatic hypercalcemia were associated with the treatment.ConclusionsThe present case demonstrated the therapeutic potential of denosumab for treatment of cherubism, although adverse effects, especially those on childhood growth, remain obscure. Further studies are needed to establish a safe and effective protocol for denosumab treatment of children.

scholarly journals Evolving Patterns of Cryptosporidiosis: Issues and Implications in the Context of Public Health in India

2021 ◽  
Author(s):  
Bijay Ranjan Mirdha
Keyword(s):  
Public Health ◽  
Genetic Diversity ◽  
Genetic Recombination ◽  
Acute Infection ◽  
Transmission Intensity ◽  
Future Research ◽  
Cryptosporidium Hominis ◽  
Host Preferences ◽  
Childhood Growth ◽  
Life Years

AbstractCryptosporidiosis is one of the major causes of diarrhea in immune-compromised individuals and children besides causing sporadic water-borne, food-borne, and zoonotic outbreaks. In 2016, Cryptosporidium species infection was the fifth leading cause of diarrhea and acute infection causing more than 4.2 million disability-adjusted life years lost besides a decrease in childhood growth. Human cryptosporidiosis is primarily caused by two species/genotype: Cryptosporidium hominis (anthroponotic) and Cryptosporidium parvum (zoonotic) besides other six rare species/genotypes. Transmission intensity, genetic diversity, and occurrence of genetic recombination have shaped the genus Cryptosporidium population structures into palmitic, clonal, and epidemic. Genetic recombination is more in C. parvum compared with C. hominis. Furthermore, parasite–host co-evolution, host adaptation, and geographic segregation have led to the formation of “subtype- families.” Host-adapted subtype-families have distinct geographical distribution and host preferences. Genetic exchanges between subtypes played an important role throughout the evolution of the genus leading to “adaptation introgression” that led to emergence of virulent and hyper-transmissible subtypes. The population structure of C. hominis in India appears to be more complex where both transmission intensity and genetic diversity are much higher. Further, study based on “molecular strain surveillance” has resulted newer insights into the epidemiology and transmission of cryptosporidiosis in India. The identification at the species and genotype levels is essential for the assessment of infection sources in humans and the public health potential of the parasite at large. The results of the study over three decades on cryptosporidiosis in India, in the absence of a national surveillance data, were analyzed highlighting current situation on epidemiology, genetic diversity, and distribution particularly among vulnerable population. Despite creditable efforts, there are still many areas need to be explored; therefore, the intent of this article is to facilitate future research approaches for mitigating the burden associated with this disease.

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