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To analyze the clinical, molecular genetic and biochemical characteristics of a family diagnosed with creatine deficiency syndrome (CDS) due to SLC6A8 gene mutation diagnosed in Department of Pediatrics, the First Affiliated Hospital of Xinxiang Medical University in September 2018.The boy was referred at the age of 13 for intermittent vomiting and symptoms were relieved after symptomatic treatment, 7 months later, the patient was diagnosed again.He ate less and constipated as an infant, and had intermittent vomiting and severe constipation from 12 years old.He could walk at the age of 1 year and 6 months, could speak his first word at 2 years old, and only spoke simple sentences at the diagnosis.He rarely communicated with his parents.His brother has severe intellectual deficiency and seizures.His mother has cognitive impairment and had repeated stillbirths and miscarriages.When visiting the doctor, his weight was 22 kg (< P3), height was 131 cm (< P3), and head circumference was 52 cm.Besides, he had severe mental retardation and sluggish expression, poor communication, broad forehead, musculoskeletal atrophy and arched foots.His brain magnetic resonance imaging showed mild enlargement of the lateral ventricles.Magnetic resonance spectroscopy showed normal signals in the bilateral hippocampuses.The boy′s exon sequencing related to intellectual deficiency revealed the hemizygous mutation of SLC6A8 gene c. 626(exon3)-c.627(exon3)delCT.His mother and brother were carriers of the variant gene, but his father and grandmother had no such mutation.The urinary creatine to creatinine ratio was elevated but guanidinoacetate was normal, it was further confirmed that CDS can be caused by the novel mutation c. 626(exon3)-c.627(exon3) delCT in SLC6A8.In clinical practice, boy with mental retardation of unknown origin and often have gastrointestinal symptoms, especially when feeding difficulties and growth retardation occur in infancy, the early diagnosis of CDS can be achieved by examination of urinary creatine to creatinine ratio and gene detection.
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Objectives To observe the effect ofGuizhi-Fuling capsule on the expression of AngⅡand eNOS.Methods 72 male Sprague-Dawley(SD) rats, aged three months, were randomly divided into three groups: a sham-operated group(n=24),a model group (n=24) and a treatment group (n=24). Renal tubulointerstitial fibrosis model was established via unilateral ureteral obstruction(UUO). Rats in the treatment group were treated withGuizhi-Fulingcapsule (125mg/kg),and the same volume of normal saline were given to the rats in the sham -operated group and the model group at the same time. Rats were put to death at day 7, 14, 21 Immunohisto-chemistry staining was performed to investigate both the expression of AngⅡ, eNOS in TIF. Results 1 Renal interstitium injury was seen in the model group and the treatment group rats at day 7. The degree of renal interstitium fibrosis in rats from the treatment group was lighter than that of the model group at day 7, 14, 21 (P< 0.01).2 At day 7,14 and 21, the expression of AngⅡin rats from the model group and the treatment group were higher than that of the sham-operated group (P<0.01), but those of the treatment group was lower than those of the model group (P< 0.01). The expression of AngⅡ in rats from the model and the treatment groups were increasing,the highest in the 21th day (P<0.01).3 At day 7, 14 and 21, the expression of eNOS in rats from the model group and the treatment group were lower than that of the sham-operated group (P<0.01).ConclusionsGuizhi-Fuling capsule can alleviate the lesion of renal tissue in obstructive kidney and delay the development of TIF.
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BACKGROUND:Bone marrow stem cells are defined by their multi-potential ability, and can be differentiated into intrinsic cells in the kidney. OBJECTIVE:To study the effects of mobilizing autologous bone marrow stem cells by granulocyte colony-stimulating factor plus stem cellfactor on cellapoptosis and proliferation of rats with renal ischemia-reperfusion injury. METHODS:Total y 160 male Sprague-Dawley rats were randomly divided into four groups:control group, model group, cytokine treatment group, cytokine control group. Rat models of unilateral renal ischemia-reperfusion injury were established in the model and cytokine treatment groups. Rats in the cytokine treatment group and cytokine control group received subcutaneous injection of granulocyte colony-stimulating factor (50μg/kg) and stem cellfactor (200μg/kg), once a day, for 5 continuous days. Rats in the model and control groups had no treatment. Apoptotic cells were detected by terminal deoxynucleotidyl transferase-mediated dUTP-biotin nick end labeling method, and the expression of CD34-positive cells, Caspase-3, Bcl-2, proliferating cellnuclear antigen in the kidney were measured using immunohistochemistry staining. RESULTS AND CONCLUSION:The number of CD34-positive cells in renal tissue of the cytokine treatment group was significantly higher than that of the control group and model group (P<0.05). The apoptotic index and expression of Capase-3 in the model group and cytokine treatment group were higher than those in the control group and cytokine control group (P<0.05). The apoptotic index and expression of Capase-3 in the cytokine treatment group were lower than that in the model group (P<0.05). The expression of Bcl-2 in the model group and cytokine treatment group was higher than that in the control group and cytokine control group (P<0.05). The expression of Bcl-2 in the cytokine treatment group was higher than that in the model group (P<0.05);however, as time went on, Bcl-2 expression was obviously decreased. Proliferating cellnuclear antigen expressed both in the model group and in the cytokine treatment group. Additional y, the proliferative index reached peak at 24 days in the model group, and then decreased gradual y;while in the cytokine treatment group, it reached the peak at 10 days, maintained a high level until the 17th day, and then decreased gradual y. Mobilization of autologous bone marrow stem cells by combination of granulocyte colony-stimulating factor and stem cellfactor can increase proliferation and decrease apoptosis of renal tubular epithelial cells after renal ischemia-reperfusion injury, and thus, promote the recovery from renal tubular injury.
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Objective To study the relationships between clinical and endoscopic findings of children with Henoch-Schoenlein purpura ( HSP). Methods All of the 51 cases with HSP from Aug 2000 to Apr 2004 were checked up by endoscopy, either gastroscopy and/or colonoscopy, and analyzed the relationship between clinical and endoscopic fingings. Results Fifteen out of 51 cases had no prominent changes in endoscopies, and 36 cases had different lesions in gastric, duodenal or colonic mucosa. There were 4 cases presented with simple lesion on stomach mucosa and 7 cases on colonic mucosa; and 25 cases had the lesions presented in gastrie, duodenal and/or colonic mucosa. The main findings in mucosa were exudates, erosion and hemorrhage. Conclusion There are obvious lesions in stomach, duodenum and /or colonic mucosa of HSP in children. Sometimes, these lesions happened before the appearance of skin purpura. There are close relationships between the lesions and the clinical manifestations of HSP in children, and therefore the endoscopic check up of HSP in children has very important significance in early diagnosis.