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BACKGROUND: Contiguous gene deletion in the short arm of chromosome 4 is linked to various neurodevelopmental disorders. METHODS: In this study, we conducted peripheral blood chromosome G-banding karyotyping and whole-exome sequencing (WES) on a proband presenting with anal atresia, global developmental delay, lymphocytosis, and other multisystem anomalies. Additionally, chromosome G-banding karyotyping was also carried out on the proband's parents and brother. RESULTS: The 7-month-old proband was found to have a 26.738 Mb 4p15.33-p14 deletion as identified by chromosome G-banding karyotyping and WES. CONCLUSION: We identified a patient with proximal 4p deletion syndrome by karyotype and WES analysis, which might explain some of his phenotypes. Our research enhances clinicians' knowledge of this rare condition, and offers valuable genetic counseling to the affected family. Further research is necessary to identify the causative gene or critical region associated with proximal 4p deletion syndrome.
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Anormalidades Múltiplas , Deleção Cromossômica , Cromossomos Humanos Par 4 , Humanos , Masculino , Lactente , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/patologia , Cromossomos Humanos Par 4/genética , Fenótipo , Transtornos Cromossômicos/genética , Transtornos Cromossômicos/patologia , Cariotipagem , Sequenciamento do ExomaRESUMO
Objective: Scutellarin is a primary active composition come from Erigeron breviscapus. It is well known that scutellarin has anti-inflammatory and antioxidant physiological functions. In this study, we detected the effects of scutellarin on hepatocyte cell apoptosis in type 2 diabetes mellitus (T2DM) rats. Methods: Sprague Dawley (SD) (6-8 weeks, 160-180 g) rats were randomly divided into six groups: control, model, scutellarin low-dose, medium-dose, high-dose treatment, and rosiglitazone positive groups; with 10 SD rats in each group (n = 10). The changes of biochemical factors in serum were detected by automatic biochemical instrument, the pathological changes of liver tissue were detected by hematoxylin and eosin (HE) staining, the apoptosis of liver tissue and cells was detected by tissue staining and flow analyzer, and the expression of apoptosis-related factors were determined by qPCR, Western blot and immunohistochemistry in liver tissues or cells. Results: The results showed that scutellarin decreased the levels of fasting blood glucose, total cholesterol, triglyceride, and low-density lipoprotein and increased the levels of high-density lipoprotein. Meanwhile, scutellarin decreased the levels of alanine transaminase (ALT) and aspartate transaminase (AST) and improved liver function. In addition, scutellarin suppressed the secretion of interleukin-1 (IL-1), interleukin-6 (IL-6) and tumor necrosis factor-α (TNF-α) and reduced hepatocyte apoptosis. Furthermore, scutellarin inhibited the expression of cleaved Caspase-3, Bax, and cytochrome C (Cyt-C) and promoted the expression of Bcl-2. Conclusion: Scutellarin can inhibit the apoptotic pathway, thereby relieving T2DM.
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INTRODUCTION: Cervical cancer is a common malignancy among woman, strong molecular epidemiological data show that high risk HPV infection is the main cause of cervical cancer. MATERIAL AND METHODS: Samples were collected from Sichuan women's and children's hospital based on the relevant guidelines and regulations, HPV DNA was extracted and evaluated by Human Papillomavirus Genotyping Kit for 21 types, according to the manufacturer's guidelines to analyze the epidemic age, mixed infection types, variation trend of HPV types in Sichuan from 2014 to 2021; Results: Out of 51174 samples11165 (21.82 %) HPV positive samples were detected, all belonging to alpha family, 53.32 % HPV positive samples and 61.51 % high-risk (HR) HPV positive samples are alpha-9 genus; The three commonest HR were HPV-52, HPV-16, HPV-58, and the low-risk (LR) HPV were HPV-81, HPV-6, HPV-11; Single infection was absolutely predominant and the age group with the highest HPV detection rate was 26-30 years old. During 2014-2021, HPV-16, HPV-6 and HPV-11 decline, while HPV-58 and HPV-52 increased; Conclusions: The most prevalent age group of HPV in this region was 26-30 years old. The detection rate of HPV-52 increased in the region, overtaking HPV-16 as the commonest type of HPV. α-9 genus HPV with strong pathogenicity is the commonest HR HPV. HPV prevalence systematic comparison in certain areas and continuous time can accurately and intuitively understand its distribution changes, achieve analysis of the epidemic trend, and provide guidance for the prevention, treatment and scientific research of HPV in Sichuan.
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Infecções por Papillomavirus , Neoplasias do Colo do Útero , Criança , Feminino , Humanos , Adulto , Neoplasias do Colo do Útero/diagnóstico , Genótipo , Papillomaviridae/genética , Papillomavirus Humano 16 , Prevalência , China/epidemiologiaRESUMO
BACKGROUND: Congenital orbital teratoma is relatively rare, and few reports of prenatal ultrasound findings in such cases have been published. CASE PRESENTATION: A rare case of congenital orbital teratoma at 24 + 2 weeks of gestation was previously diagnosed as microphthalmia, noting how orbital teratoma without proptosis is different from microphthalmia, retinoblastoma and intracranial teratoma. Ultrasound examination, analysis of gross specimens, and histopathological evaluation confirmed the diagnosis of orbital teratoma. CONCLUSION: Prenatal ultrasound examination is useful for diagnosis and differential diagnosis of congenital orbital teratoma.