Clinical and genetic analysis of a case of late onset carbamoyl phosphate synthase I deficiency caused by CPS1 mutation and literature review.

BACKGROUND: Carbamoyl phosphate synthetase I defect (CPS1D) is a rare disease with clinical case reports mainly in early neonates or adults, with few reports of first onset in late neonatal to childhood. We studied the clinical and genotypic characteristics of children with childhood onset CPS1D caused by two loci mutations (one of these is a rarely reported non-frame shift mutation) in the CPS1. CASE PRESENTATION: We present a rare case of adolescent-onset CPS1D that had been misdiagnosed due to atypical clinical features, and further investigations revealed severe hyperammonemia (287µmol/L; reference range 11.2 ~ 48.2umol/L). MRI of the brain showed diffuse white matter lesions. Blood genetic metabolic screening showed elevated blood alanine (757.06umol/L; reference range 148.8 ~ 739.74umol/L) and decreased blood citrulline (4.26umol/L; reference range 5.45 ~ 36.77umol/L). Urine metabolic screening showed normal whey acids and uracil. Whole-exome sequencing revealed compound heterozygous mutations in the CPS1, a missense mutation (c.1145 C > T) and an unreported de novo non-frame shift mutation (c.4080_c.4091delAGGCATCCTGAT), respectively, which provided a clinical diagnosis. CONCLUSION: A comprehensive description of the clinical and genetic features of this patient, who has a rare age of onset and a relatively atypical clinical presentation, will facilitate the early diagnosis and management of this type of late onset CPS1D and reduce misdiagnosis, thus helping to reduce mortality and improve prognosis. It also provides a preliminary understanding of the relationship between genotype and phenotype, based on a summary of previous studies, which reminds us that it may help to explore the pathogenesis of the disease and contribute to genetic counselling and prenatal diagnosis.

Identification of 1q21.1 microduplication in a family: A case report.

BACKGROUND: Copy number variation (CNV) has become widely recognized in recent years due to the extensive use of gene screening in developmental disorders and epilepsy research. 1q21.1 microduplication syndrome is a rare CNV disease that can manifest as multiple congenital developmental disorders, autism spectrum disorders, congenital malformations, and congenital heart defects with genetic heterogeneity. CASE SUMMARY: We reported a pediatric patient with 1q21.1 microduplication syndrome, and carried out a literature review to determine the correlation between 1q21.1 microduplication and its phenotypes. We summarized the patient's medical history and clinical symptoms, and extracted genomic DNA from the patient, her parents, elder brother, and sister. The patient was an 8-mo-old girl who was hospitalized for recurrent convulsions over a 2-mo period. Whole exon sequencing and whole genome low-depth sequencing (CNV-seq) were then performed. Whole exon sequencing detected a 1.58-Mb duplication in the CHR1:145883867-147465312 region, which was located in the 1q21.1 region. Family analysis showed that the pathogenetic duplication fragment, which was also detected in her elder brother's DNA originated from the mother. CONCLUSION: Whole exon sequencing combined with quantitative polymerase chain reaction can provide an accurate molecular diagnosis in children with 1q21.1 microduplication syndrome, which is of great significance for genetic counseling and early intervention.

Study on the hydrothermal coupling characteristics of polyurethane insulation boards slope protection structure incorporating phase change effect.

The canals are essential for agricultural irrigation, shipping and industry as important hydraulic infrastructure. In the seasonal freeze regions, the water conveyance canals are damaged due to the effects of freeze-thaw cycles. The freeze depth of soil in the water transfer canal varies considerably due to changes in temperature and water content. This paper compared the relationship of freeze depth, temperature and water content by field tests and numerical calculation methods by incorporating phase change. The results from present study showed that the decrease in temperature causes the water in the soil to freeze, the ice front migrated downwards, and the water in soil below ice front gradually migrated towards the ice front resulting in a large difference in water content of the soil before and after freezing. The Polyurethane insulation board + Concrete board slope structure (PC) as an insulation slope structure was proposed in this paper to mitigate the effect of freezing and thawing on the water conveyance canals. The freeze depth decreased significantly under the protective effect. In addition, this paper compared the anti-frost effect of different thicknesses of polyurethane insulation boards, and the results provided a reference for the anti-frost design of water conveyance canals.

Useful ethnophytomedicinal recipes of angiosperms used against diabetes in South East Asian Countries (India, Pakistan & Sri Lanka).

This paper is based on data recorded from various literatures pertaining to ethnophytomedicinal recipes used against diabetes in South East Asia (India, Pakistan and Srilanka). Traditional plant treatments have been used throughout the world for the therapy of diabetes mellitus. In total 419 useful phytorecipes of 270 plant species belonging to 74 Angiospermic families were collected. From the review it was revealed that plants showing hypoglycemic potential mainly belong to the families, Cucurbitaceae (16 spp.), Euphorbiaceae (15 spp.), Caesalpiniaceae and Papilionaceae (13 spp. each), Moraceae (11 spp.), Acanthaceae (10 spp.), Mimosaceae (09 spp.), Asteraceae, Malvaceae and Poaceae (08 spp. each), Hippocrateaceae, Rutaceae and Zingiberaceae (07 spp. each), Apocynaceae, Asclepiadaceae and Verbenaceae (06 spp. each), Apiaceae, Convolvulaceae, Lamiaceae, Myrtaceae, Solanaceae (05 spp.each). The most active plants are Syzigium cumini (14 recipes), Phyllanthus emblica (09 recipes), Centella asiatica and Momordica charantia (08 recipes each), Azadirachta indica (07 recipes), Aegle marmelos, Catharanthus roseus, Ficus benghalensis, Ficus racemosa, Gymnema sylvestre (06 recipes each), Allium cepa, A. sativum, Andrographis paniculata, Curcuma longa (05 recipes each), Citrullus colocynthis, Justicia adhatoda, Nelumbo nucifera, Tinospora cordifolia, Trigonella foenum-graecum, Ziziphus mauritiana and Wattakaka volubilis (4 recipes each). These traditional recipes include extracts, leaves, powders, flour, seeds, vegetables, fruits and herbal mixtures. Data inventory consists of botanical name, recipe, vernacular name, English name. Some of the plants of the above data with experimentally confirmed antidiabetic properties have also been recorded. More investigations must be carried out to evaluate the mechanism of action of diabetic medicinal plants. Toxicity of these plants should also be explained. Scientific validation of these recipes may help in discovering new drugs from these medicinal plants for diabetes.