The objective of this study was to assess sensory acceptability of locally-produced chickpea-based ready-to-use supplementary foods (RUSF) among moderately malnourished children (6-59 months). A quantitative descripti...
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The objective of this study was to assess sensory acceptability of locally-produced chickpea-based ready-to-use supplementary foods (RUSF) among moderately malnourished children (6-59 months). A quantitative descriptive analysis using a five point hedonic scale among a total of 140 mother-baby pairs was conducted in five hotspot priority one district. The target groups were sampled from 10 sites of five districts (two sites per district). The child-mother pairs per district were selected through systematic random sampling. The selection criteria included children aged 6-59 months with moderate acute malnutrition (MAM) and not suffering from any illness. Half of the respondents (46%) were farmers, while 29% were housewives; only 21% had formal education. Both sexes were equally represented in the sample size among children with 46% being males while 54% females. About half (46%) of households had four or more children with median maternal age during child birth reported at 28.6 ± 5.9 years. About 89% of children consumed complementary food from starchy staple food; 17% consumed from vitamin A rich foods; 57% consumed from dark green leafy vegetables; no child consumed meat, fish and eggs; 49.3% consumed legumes, nuts and seeds; 36.4% consumed milk and milk products and the mean dietary diversity was rated at two out of the nine food groups. The amount of RUSF consumed by children from 48-59 months was higher than children who were 6-11 months. Amhara region had accepted chickpea only and chickpea + maize+ soy the two products more than the other four regions with an average mean value of 4.8 and 4.6 by mother/caregiver and interviewer, respectively. Mothers" perception of the appearance of the products and their overall acceptability was similar in most regions except South Nation Nationality People Region (SNNPR) where the rating of the two products was low with an average mean value of 4.6. Two of the products were well accepted by the study of the participants. Th
The mechanobullous disease Hallopeau-Siemens recessive dystrophic epidermolysis bullosa (HS-RDEB) results from mutations in the typeVII collagen gene (COL7A1) on chromosome 3p21.31. Typically, there are frameshift, sp...
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The mechanobullous disease Hallopeau-Siemens recessive dystrophic epidermolysis bullosa (HS-RDEB) results from mutations in the typeVII collagen gene (COL7A1) on chromosome 3p21.31. Typically, there are frameshift, splice site, or nonsense mutations on both alleles. In this report, we describe a patient with HS-RDEB, who was homozygous for a new frameshift mutation, 345insG, in exon 3 of COL7A1. However, sequencing of parental DNA showed that although the patient’s mother was a heterozygous carrier of this mutation, the father’s DNA contained only wild-type sequence. Microsatellite marker analysis confirmed paternity and genotyping of 28 microsatellites spanning chromosome 3 revealed that the affected child was homozygous for every marker tested with all alleles originating from a single maternal chromosome 3. Thus, the HS-RDEB phenotype in this patient is due to complete maternal isodisomy of chromosome 3 and reduction to homozygosity of the mutant COL7A1 gene locus. To our knowledge, there are no published reports of uniparental disomy (UPD) in HS-RDEB; moreover, this case represents only the third example of UPD of chromosome 3 to be reported. The severity of the HS-RDEB in this case was similar to other affected individuals and no additional phenotypic abnormalitieswere observed, suggesting an absence of maternally imprinted genes on chromosome 3.
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