1.Parental perceptions of children's body shapes.
Zalilah MS ; Anida HA ; Merlin A
The Medical Journal of Malaysia 2003;58(5):743-751
The aim was to determine the differences in parents' perceptions of boys' and girls' body shapes and the explanations for the emphasis on body shape care of children. Subjects were low-income parents (n = 158) of preschoolers attending preschools in Kuala Lumpur, Malaysia. Parental perceptions of children's body shapes were assessed based on their rankings (scale of 1 to 7) of four attributes (ideal, healthy, fat and thin) for boy and girl figures. Parental responses to five questions on the importance of body shape were also obtained. Parental rankings of ideal and healthy body shapes were significantly lower for girls than boys (p < 0.001). However, mothers' and fathers' rankings of boys' and girls' body shapes were not significantly different. for both boys and girls, parental ratings for ideal body shape were significantly lower than for healthy body shape (p < 0.001). The majority of parents indicated that children's body shape is important for their future health, self enhancement, social interaction and career. With the increasing prevalence of body dissatisfaction among Malaysian children, these findings contribute to the understanding of parental roles in the development of body image and perhaps, in the etiology of body dissatisfaction among children.
*Body Image
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*Child, Preschool
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Parents/*psychology
2. Pharmacognostic standardisation of Hilleria latifolia (Lam.) H. Walt. (Phytolaccaceae)
Isaac Kingsley AMPONSAH ; Abraham Yeboah MENSAH ; Antonia OTOO ; Jato JONATHAN ; Merlin Lincoln KWAO MENSAH
Asian Pacific Journal of Tropical Biomedicine 2014;4(12):941-946
Objective: To establish the pharmacognostic characters for the correct identification and quality control of Hilleria latifolia (H. latifolia), an important herb in Ghanaian folklore medicine, for the treatment of infections, pain and inflammation. Methods: The macro-morphological, qualitative and quantitative microscopic features, physicochemical and phytochemical features of the medicinally used parts of H. latifolia were evaluated using standard methods. Results: The plant has simple, alternate leaves with entire margin. The lamina is ovate to broadly lanceolate with an acuminate apex. It is hypostomatic with anomocytic stomata. The plant contains abundant prismatic crystals in all parts. Starch grains abound in the roots. The quantitative indices of the leaf and physicochemical parameters have also been established. Conclusions: The pharmacognostic features established in this study may be used as part of the pharmacopoeial standard for the correct identification and quality control of H. latifolia.
3.Biallelic variants in RBM42 cause a multisystem disorder with neurological, facial, cardiac, and musculoskeletal involvement.
Yiyao CHEN ; Bingxin YANG ; Xiaoyu Merlin ZHANG ; Songchang CHEN ; Minhui WANG ; Liya HU ; Nina PAN ; Shuyuan LI ; Weihui SHI ; Zhenhua YANG ; Li WANG ; Yajing TAN ; Jian WANG ; Yanlin WANG ; Qinghe XING ; Zhonghua MA ; Jinsong LI ; He-Feng HUANG ; Jinglan ZHANG ; Chenming XU
Protein & Cell 2024;15(1):52-68
Here, we report a previously unrecognized syndromic neurodevelopmental disorder associated with biallelic loss-of-function variants in the RBM42 gene. The patient is a 2-year-old female with severe central nervous system (CNS) abnormalities, hypotonia, hearing loss, congenital heart defects, and dysmorphic facial features. Familial whole-exome sequencing (WES) reveals that the patient has two compound heterozygous variants, c.304C>T (p.R102*) and c.1312G>A (p.A438T), in the RBM42 gene which encodes an integral component of splicing complex in the RNA-binding motif protein family. The p.A438T variant is in the RRM domain which impairs RBM42 protein stability in vivo. Additionally, p.A438T disrupts the interaction of RBM42 with hnRNP K, which is the causative gene for Au-Kline syndrome with overlapping disease characteristics seen in the index patient. The human R102* or A438T mutant protein failed to fully rescue the growth defects of RBM42 ortholog knockout ΔFgRbp1 in Fusarium while it was rescued by the wild-type (WT) human RBM42. A mouse model carrying Rbm42 compound heterozygous variants, c.280C>T (p.Q94*) and c.1306_1308delinsACA (p.A436T), demonstrated gross fetal developmental defects and most of the double mutant animals died by E13.5. RNA-seq data confirmed that Rbm42 was involved in neurological and myocardial functions with an essential role in alternative splicing (AS). Overall, we present clinical, genetic, and functional data to demonstrate that defects in RBM42 constitute the underlying etiology of a new neurodevelopmental disease which links the dysregulation of global AS to abnormal embryonic development.
Female
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Animals
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Mice
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Humans
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Child, Preschool
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Intellectual Disability/genetics*
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Heart Defects, Congenital/genetics*
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Facies
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Cleft Palate
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Muscle Hypotonia