Weight Growth Retardation Research Articles

Aicardi-Goutières syndrome type 7 in a Chinese child: A case report

IFIH1 is a protein-coding gene. Disorders associated with IFIH1 include Aicardi-Goutières syndrome (AGS) type 7 and Singleton-Merten syndrome type 1. Related pathways include RIG-I/MDA5-mediated induction of the interferon (IFN)-α/β pathway and the innate immune system. AGS type 7 is an autosomal dominant inflammatory disorder characterized by severe neurological impairment. In infancy, most patients present with psychomotor retardation, axial hypotonia, spasticity, and brain imaging changes Laboratory assessments showed increased IFN-α activity with upregulation of IFN signaling and IFN-stimulated gene expression. Some patients develop normally in the early stage, and then have episodic neurological deficits. The 5-year-old girl presented with postpartum height and weight growth retardation, language retardation, brain atrophy, convulsions, and growth hormone deficiency. DNA samples were obtained from peripheral blood from the child and her parents for whole-exome sequencing and test of genome-wide copy number variation. Heterozygous mutations in the IFIH1 gene were found. Physical examination at admission found that language development was delayed, the reaction to name calling was average, there was no communication with people, but there was eye contact, no social smile, and no autonomous language. However, the child had rich gesture language and body language, could understand instructions, had bad temper. When she wants to achieve something, she starts crying or shouting. Cardiopulmonary examination showed no obvious abnormality, and abdominal examination was normal. Bilateral muscle strength and muscle tone were symmetrical and slightly decreased. Physiological reflexes exist, but pathological reflexes were not elicited. We reported the clinical characteristics of a Chinese child with a clinical diagnosis of AGS type 7, which expanded the mutational spectrum of the IFIH1 gene.

Effect of intergenerational chronic undernutrition on ponderal, and linear growth.

The aim of this paper was to analyze if intergenerational undernutrition causes growth retardation in weight and body length in two generations of rats and, if so, to assess whether the delay is cumulative. Male and female rats were assigned to one of the following groups: (1) control: they were fed ad libitum and constituted the parental generation (P), and (2) undernourished generations (F1 and F2): they were fed on 75% of the control diet. Animals were weighed and X-rayed every ten days from 20 to 100 days old in order to measure total body length. Also, body mass index was calculated. Data were processed by ANOVA and LSD post hoc tests. Impairment in weight, body length, and body mass index was found in both generations; nevertheless growth retardation was greater in F2, indicating a cumulative effect of nutritional stress. Sex differences were found, since the cumulative effect of generational undernutrition was greater and earlier in males than in females. It is concluded that when the undernutrition acts with constant intensity during several generations, the growth retardation is cumulative, indicating a negative secular trend.

G.P.5.11 Deletion of lamin A/C lysine 32 is responsible for abnormal muscle maturation associated with proliferation and differentiation defects in mice

Lamin A and lamin C proteins, both encoded by a unique gene, are organized at the inner face of the nuclear membrane as a fibrous meshwork interacting with multiple proteins including themselves and DNA. They are implicated in a broad variety of functions, among which: DNA replication, RNA transcription, nuclear envelope structure, chromatin organization. Mutations reported all along the human LMNA gene are responsible of multiple diseases including Emery-Dreifuss muscular dystrophy (EDMD). Among the mutations responsible of autosomal dominant EDMD, the deletion of the lysine 32 leads to a severe phenotype with the first clinical signs appearing before the second year of life and a loss of ambulation before the end of the first decade. Homozygous knock-in mice reproducing, via homologous recombination, the deletion of the lysine 32 also present a severe phenotype with an overall growth retardation in weight and size compared to their wild type littermates and die within the first month of life. Lamin A/C protein expression is reduced in all analysed tissues from homozygous mice despite normal mRNA levels. Microscopic analysis of the mutant mouse muscles shows maturation retardation characterized by a reduction of fiber cross section area, increased proportions of central nuclei, and increased number of fibers still expressing embryonic myosin heavy chains compared to muscles from wild type mice of the same age. Myoblast primary culture from homozygous mutant mice shows a weaker proliferation capacity and a delayed differentiation programme compared to their WT littermates that could in part explain the phenotype.

Malnutrition, a Rare Form of Child Abuse: Diagnostic Criteria

Infantile malnutrition is often difficult to diagnose as it is rarely observed in industrialized countries. It may be associated with physical violence or occur in isolation. The essential clinical sign is height and weight retardation, but malnutrition also causes a variety of internal and bone lesions, which lead to neuropsychological sequelae and death. We report a rare case of death by malnutrition in a female child aged 6 1/2 months. The infant presented height and weight growth retardation and internal lesions related to prolonged protein-energy malnutrition (fat and muscle wasting, thymic atrophy, liver steatosis) resulting in a picture of marasmus or kwashiorkor. We detail the positive and negative criteria that established the diagnosis of abuse, whereas the parents had claimed a simple dietary error.

Anthropometry of fetal growth in rural Malawi in relation to maternal malaria and HIV status

Objective: To describe fetal growth centiles in relation to maternal malaria and HIV status, using cross sectional measurements at birth. Design: A cross sectional study of pregnant women and their...

Assessment of physical activity among rural Senegalese adolescent girls: influence of age, sexual maturation, and body composition.

To analyze the level of habitual physical activity and its relationship with age, maturational stage, and growth status in a group of adolescent Senegalese girls. Physical activity was assessed for 3 consecutive years in a sample of 40 girls of rural origin. They were 13.3 +/- 0.5 years old at the beginning of the study and belonged to a Sereer community located in the center of Senegal. Minute-by-minute movement counts using accelerometers enabled quantification of levels of physical activity. The assessment was performed during a 4-day period in the first round (1997) and during a 3-day period in 1998 and 1999. Half of the girls were not yet pubescent during the first round, and the whole sample displayed growth retardation in weight and stature, compared with the World Health Organization/National Center for Health Statistics reference. Estimated levels of activity were high, ranging from 1.80 to 1.85 multiples of basal metabolic rate. There was a clear decline in the activity level during the course of study. Schoolgirls were less active than the others. Mature adolescents showed more activity during the night. A weak, but significant and positive correlation existed between body mass index and activity during the day; during the night, there was a positive correlation with fat and lean body mass. Factors determining the activity level were intricate but greater maturity and better nutritional status appeared to be positively related to the activity level.

Growth retardation in weight and catch-up growth following infection by measles and whooping cough among babies of rural Zaire (Lake Tumba)

This study has shown that measles and whooping cough affect growth in weight among babies of rural Zaire (Lake Tumba). The average loss in weight due to measles, is more than twice the amount due to whooping cough. However, the time needed to regain the original growth channel after infection by measles, is about half the time needed to fully catch up after whooping cough. The amount of weight loss is proportional to the child's weight at the onset of the disease. There is no difference in the susceptibility to lose weight after measles or whooping cough, between boys and girls, nor between Oto and Twa. This study has also shown that the effect of measles and whooping cough on the growth in weight, is independent of the season of the hear, although the incidence of these diseases showed a significant seasonal pattern. Finally, this study gives evidence for the fact that the incidence of weight loss one month after the onset of measles or whooping cough is age-related.

Effect of moderate maternal malnutrition on the levels of alkaline ribonuclease activity in the human placenta†

Ribonuclease (RNAse) activity was measured in placentas from a sample of 49 urban Guatemalan women from low (30) and high (19) socioeconomic status (SES). Low SES women had a larger proportion (40%) of high levels of RNAse (> 60,000 units/g) than women from the high SES group (5 %). A trend to inverse association (p = 0.06) was also observed between amount of supplemented food energy during pregnancy and RNAse activity in rural populations covered by two food supplementation programs (protein energy and energy). Two indicators of maternal nutrition, third trimester weight and height, also showed inverse associations with placental RNAse activity. It is inferred from these results that improved maternal nutrition decreases placental RNAse activity. Moreover, high levels of placental RNAse activity were associated, up to 36 months of age, with higher proportions of: physical growth retardation in weight, height and head circumference; below‐average psychological test performance; and infant deaths. These results deserve consideration from both the physiological and public health points of view.