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BACKGROUND: Hirschsprung's disease (HSCR) is one of the most common congenital digestive tract malformations and can cause stubborn constipation or gastrointestinal obstruction after birth, causing great physical and mental pain to patients and their families. Studies have shown that more than 20 genes are involved in HSCR, and most cases of HSCR are sporadic. However, the overall rate of familial recurrence in 4331 cases of HSCR is about 7.6%. Furthermore, familial HSCR patients show incomplete dominance. We still do not know the penetrance and genetic characteristics of these known risk genes due to the rarity of HSCR families. METHODS: To find published references, we used the title/abstract terms "Hirschsprung" and "familial" in the PubMed database and the MeSH terms "Hirschsprung" and "familial" in Web of Science. Finally, we summarized 129 HSCR families over the last 40 years. RESULTS: The male-to-female ratio and the percentage of short segment-HSCR in familial HSCR are much lower than in sporadic HSCR. The primary gene factors in the syndromic families are ret proto-oncogene (RET) and endothelin B receptor gene (EDNRB). Most families show incomplete dominance and are relevant to RET, and the RET mutation has 56% penetrance in familial HSCR. When one of the parents is a RET mutation carrier in an HSCR family, the offspring's recurrence risk is 28%, and the incidence of the offspring does not depend on whether the parent suffers from HSCR. CONCLUSION: Our findings will help HSCR patients obtain better genetic counseling, calculate the risk of recurrence, and provide new insights for future pedigree studies.
Assuntos
Doença de Hirschsprung , Humanos , Masculino , Feminino , Doença de Hirschsprung/genética , Proteínas Proto-Oncogênicas c-ret/genética , Mutação , LinhagemRESUMO
To explore the ectopic osteogenesis effect of sequential sustained release application of recombinant human bone morphogenic protein-2 (rhBMP-2) and basic fibroblast growth factor (bFGF). Antigen-extracted xenogeneic cancellous bone coupled with growth factor-loaded chitosan nanocapsules were implanted in rats in intramuscular site in accordance with the following experimental pattern: group A: simultaneous burst release of rhBMP-2 and bFGF; group B: simultaneous sustained release of rhBMP-2 and bFGF; group C: preferential burst release of rhBMP-2, then sustained release of bFGF; group D: preferential burst release of bFGF, then sustained release of rhBMP-2; group E: sustained release of rhBMP-2 alone; group F: sustained release of bFGF alone, blank control group G: antigen-extracted xenogeneic cancellous bone graft only; negative control group H: not filled with anything. Specimens were obtained after executing the animals at 2 and 4 weeks for general observation and weighing, calcium content detection, micro-CT scanning and bone parameter measurement analysis, H&E staining, ALP staining and CD34 staining. The materials weight of A-2, B-2, C-2, A-4, B-4, C-4, D-4 and E-4 were significantly higher than that of preoperative materials ( P < 0.05). The concentration of calcium of group B-4 was the highest (414.7 ± 12.03 mg/dl). Micro-CT scanning and bone parameter measurement analysis showed that the values of bone mineral density and trabecular thickness of group A, B, D, E at 4 weeks were both higher than the ones at 2 weeks ( P < 0.05), and both the bone mineral density (367.52 ± 11.64 mg/cc) and the trabecular thickness (126.17 ± 11.36 µm) of group B-4 were the highest. H&E staining showed that a large region of calcified cartilage and haemopoietic tissues were newly formed, especially in group B-4. ALP staining and CD34 staining showed the most positive expression region in group B-4. Therefore, we conclude that simultaneous sustained release of rhBMP-2 and bFGF is the ideal way to release drug, and has better inducement of antigen-extracted xenogeneic cancellous bone graft.
Assuntos
Proteína Morfogenética Óssea 2/química , Osso Esponjoso/transplante , Quitosana/química , Fator 2 de Crescimento de Fibroblastos/química , Nanocápsulas/química , Osteogênese/efeitos dos fármacos , Fator de Crescimento Transformador beta/química , Animais , Materiais Biocompatíveis/química , Proteína Morfogenética Óssea 2/farmacologia , Cálcio/análise , Preparações de Ação Retardada , Fator 2 de Crescimento de Fibroblastos/farmacologia , Humanos , Masculino , Ratos , Proteínas Recombinantes/química , Proteínas Recombinantes/farmacologia , Suínos , Fator de Crescimento Transformador beta/farmacologiaRESUMO
Six species and two subspecies of the genus Rhynchobanchus Kriechbaumer, 1894 are reported from China, of which one, Rh. flavomaculatus Sheng, sp. n., is a new species and the first record of the genus from the Oriental Region. Rhynchobanchus flavopictus orientalis Kuslitzky, 2007 is a new Chinese record. A key to the species of Rhynchobanchus occurring in China is provided.
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Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is a hereditary metabolic disease arising from biallelic mutations of SLC25A13. This study aimed to explore the characteristics of fasting blood glucose (FBG), fasting insulin (FINS) and C-peptide (C-P) levels in NICCD infants, analyze their SLC25A13 genetic mutations and further discuss the correlation between SLC25A13 genetic mutations and biochemical changes. Seventy-two cases of infants with cholestasis disease were gathered. Among them, 36 cases with NICCD diagnosis were case group. Meanwhile, 36 cases with unknown etiology but excluded NICCD were control group. FBG, FINS, C-P, ALT, AST, GGT, ALP, TG, HDL-C, LDL-C and Non-HDL-C were collected from all subjects, and DNA was extracted from venous blood for SLC25A13 mutations detection. The incidence of hypoglycemia was 3% in NICCD group. There were no significant statistical difference of FBG, FINS and C-P between NICCD and INC groups ( P > 0.05). ALT, LDL-C and Non-HDL-C levels in NICCD group were lower than the INC group, while SLC25A13 mutations were associated with the level of GGT ( P < 0.05). Ten different SLC25A13 genetic mutations were detected, among which, 851del4, IVS16ins3kb, IVS6+5 G > A and 1638ins23 mutations made up 82% of all mutations. The incidence of hypoglycemia may be higher in small gestational age infants with NICCD. Low LDL-C may be one of the characteristics of dyslipidemia in NICCD infants. There was a correlation between SLC25A13 gene mutations distribution and the GGT level, but the meaning of this finding remains to be further in-depth study. Impact statement This study aims to compare FBG, FINS, C-P, other biochemical and clinical manifestations between NICCD and non-NICCD infants, and discuss differential diagnosis of NICCD and INC beyond the genetic analysis. And investigate the correlation between SLC25A13 genetic mutations and biochemical changes. This work presented that incidence of hypoglycemia may be higher in small gestational age infants with NICCD. Low LDL-C may be one of the characteristics of dyslipidemia in NICCD infants. There was a correlation between SLC25A13 gene mutations distribution and the GGT level.
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Glicemia/análise , Citrulinemia/sangue , Citrulinemia/diagnóstico , Insulina/sangue , Proteínas de Transporte da Membrana Mitocondrial/genética , Peptídeo C/análise , Colestase/sangue , Colestase/diagnóstico , Colestase/genética , Citrulinemia/genética , Diagnóstico Diferencial , Feminino , Humanos , Hipoglicemia/epidemiologia , Hipoglicemia/etiologia , Incidência , Lactente , Recém-Nascido , Doenças do Recém-Nascido/sangue , Doenças do Recém-Nascido/diagnóstico , Doenças do Recém-Nascido/genética , Masculino , MutaçãoRESUMO
Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) primarily manifests in neonates or infants with hepatomegaly, liver dysfunction, and hypoglycemia. This study investigated the functions of islet beta cells and their correlations with liver dysfunction in NICCD patients.We retrospectively analyzed clinical data on liver function and islet beta cell functions for 36 patients diagnosed with NICCD and 50 subjects as the control group. The NICCD group had significantly higher total bilirubin (TBIL), direct bilirubin (DBIL), alanine aminotransferase (ALT), aspartate amino transferase (AST), gamma-glutamyl transpeptidase (GGT), alkaline phosphatase (ALP) and alpha-fetoprotein (AFP) levels and albumin/globulin ratio (A/G) (Pâ<â.05), and lower ALB and GLB levels than the control group (Pâ<â.05). The differences in fasting blood glucose (FBG), fasting insulin, C-peptide (C-P), the homeostasis model of assessment for the insulin resistance index (HOMA-IR), fasting beta cell function (FBCI), and the HOMA beta cell function index (HBCI) between the NICCD and control groups were not significant (Pâ>â.05). A linear correlation was found between FBG and fasting insulin (Pâ<â.001) and between FBG and C-P in the NICCD patients (Pâ=â.001). Fasting insulin (Pâ=â.023), HOMA-IR (Pâ=â.023), FBCI (Pâ=â.049), and HBCI (Pâ=â.048) were positively correlated with increases in the ALT level. There was no difference in islet beta cell functions between the NICCD and control groups. The liver dysfunction may be correlated with islet beta cell functions in NICCD patients.
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Citrulinemia/fisiopatologia , Células Secretoras de Insulina/fisiologia , Fígado/fisiopatologia , Peptídeo C/sangue , Citrulinemia/genética , Feminino , Humanos , Lactente , Insulina/sangue , Masculino , Proteínas de Transporte da Membrana Mitocondrial/genética , Estudos RetrospectivosRESUMO
This article describes the use of cone beam computed tomography (CBCT) to diagnose a dense bone island (DBI) to facilitate implant insertion guidance in a patient followed up for 4 years. Suitable image-directed preplanning and periodic review by CBCT scanning is recommended when a jaw DBI is encountered in treatment planning for implant placement.
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Tomografia Computadorizada de Feixe Cônico/métodos , Implantação Dentária Endóssea/métodos , Implantes Dentários para Um Único Dente , Doenças Mandibulares/diagnóstico por imagem , Osteosclerose/diagnóstico por imagem , Adulto , Processo Alveolar/diagnóstico por imagem , Feminino , Seguimentos , HumanosRESUMO
OBJECTIVE: To study the differential expression and possible role of MLRQ subunit gene of nicotinamide adenine dinucleotide reduced (NADH) oxidoreductase in malignant tumors of digestive system. METHODS: Specimens of cancerous tissues and matched adjacent normal tissues resected during operation or biopsy: 38 pairs of specimens of esophageal carcinoma, 7 pairs of specimens of cardiac carcinoma, 14 pairs of specimens of gastric carcinoma, 11 pairs of specimens of colon carcinoma, and 7 pairs of specimens of liver carcinoma underwent PCR test and Northern hybridization to detect the differential expression of MLRQ subunit gene of NADH oxidoreductase. RESULTS: (1) Overexpression of MLRQ subunit gene was found in 31 of the 38 pairs of specimens of esophageal carcinoma (81.6%), 4 of the 7 pairs of specimens of cardiac carcinoma (57.1%), 12 of the 14 pairs of specimens of gastric carcinoma (85.7%), 4 of the 7 pairs of specimens of colon carcinoma (65.6%), and 7 of the 11 pairs of specimens of liver cancer (57.1%). No significant difference among different cancers was observed by X(2) test (all P > 0.05). (2) The up-regulation of MLRQ subunit was not correlated with clinic stage, infiltration degree, lymphatic metastasis, and differentiation of tumor (all P > 0.05). CONCLUSION: MLRQ subunit gene is up-regulated in the malignant tumors of digestive system.
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Neoplasias do Sistema Digestório/genética , NADH NADPH Oxirredutases/genética , Neoplasias do Sistema Digestório/enzimologia , Neoplasias do Sistema Digestório/patologia , Neoplasias Esofágicas/enzimologia , Neoplasias Esofágicas/genética , Neoplasias Esofágicas/patologia , Feminino , Regulação da Expressão Gênica , Humanos , Neoplasias Hepáticas/enzimologia , Neoplasias Hepáticas/genética , Neoplasias Hepáticas/patologia , Masculino , NADH NADPH Oxirredutases/isolamento & purificação , Análise de Sequência de DNA , Homologia de Sequência de Aminoácidos , Neoplasias Gástricas/enzimologia , Neoplasias Gástricas/genética , Neoplasias Gástricas/patologia , Regulação para CimaRESUMO
The effects of a large-piece of xenogeneic bone that was separated from healthy pigs as a scaffold for the repair of a mandibular defect was investigated, and the applicability of antigen-extracted xenogeneic cancellous bone (AXCB) soaked with recombinant human bone morphogenetic protein-2 (rhBMP-2) in bone defect repair was assessed. Mandibular defects were created in 48 New Zealand rabbits, and the animals were randomly divided into four groups, in which the mandibular defects were grafted with AXCB, AXCB soaked with rhBMP-2, and autograft bone, or left blank. An equal number of animals from each group were classified into three time points (4, 8, and 12 weeks) after surgery for gross pathological observation, hematoxylin and eosin (H and E) staining, radiographic examination, and bone density measurement. H and E staining revealed that the area percentage of bone regeneration in the group of the AXCB/rhBMP-2 graft was 27.72 ± 4.68, 53.90 ± 21.92, and 77.35 ± 9.83 at 4 weeks, 8 weeks, and 12 weeks, respectively. These results were better than those of the autogenous bone graft, suggesting that the group of the AXCB/rhBMP-2 graft achieved a good osteogenic effect. With regard to the AXCB graft without rhBMP-2, the area percentage of bone regeneration was only 14.03 ± 5.02, 28.49 ± 11.35, and 53.90 ± 21.92. Therefore, the osteogenic effect of the AXCB/rhBMP-2 graft was demonstrated to have the best effect. In the group of the AXCB/rhBMP-2 graft, the area percentage of bone regeneration increased, and the implanted materials were gradually degraded and replaced by autogenous bone regeneration over time. We conclude that the AXCB graft soaked with rhBMP-2 showed good osteogenic effect in the repair of bone defects and good biocompatibility. AXCB serves as a good carrier of rhBMP-2, which promotes bone formation.
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Enxerto de Osso Alveolar/métodos , Proteína Morfogenética Óssea 2/uso terapêutico , Regeneração Óssea/fisiologia , Fator de Crescimento Transformador beta/uso terapêutico , Animais , Humanos , Masculino , Osteogênese/efeitos dos fármacos , Coelhos , Proteínas Recombinantes/uso terapêutico , SuínosRESUMO
OBJECTIVE: To explore the effect of sustained-release recombinant human bone morphogenetic protein-2 (rhBMP-2) on ectopic osteogenesis in the muscle pouches of rats through preparing rhBMP-2 sustained-release capsules by wrapping morphogenesis protein bones-2 (BMP-2) using chitosan nanoparticles, and compositing collagen materials. METHODS: Twenty four Sprague-Dawley rats were randomly divided into four groups with six rats in each group, that is Group A (control group), Group B (only treated with collagen), Group C (rhBMP-2+collagen treated group) and Group D (rhBMP-2/cs+collagen treated group). The composite materials for each group were implanted in the bilateral peroneal muscle pouches in rats. The peroneal muscles were only separated without implanting any materials in control group. Rats were sacrificed 2 weeks and 4 weeks post treatment and samples were cut off for general observation, Micro CT scans and histological observation. RESULTS: General observation showed no new bone formation in Groups A and B mice, while new bones were formed in Groups C and D mice. Two weeks after treatment Micro CT scans showed that The bone volume fraction (BVF), trabecular thickness (Tb.Th), bone mineral density (BMD) in Group C mice were all higher than that in Group D (P<0.05). At the fourth week, the BVF, Tb.Th and BMD were significantly higher than that at the second week (P<0.01). CONCLUSIONS: The slow-release effect of rhBMP-2/cs sustained-release capsules can significantly promote ectopic osteogenesis. Its bone formation effect is better than that of rhBMP-2 burst-release group.