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排序方式: 共有742条查询结果,搜索用时 15 毫秒
31.
Eyitayo O. Owolabi RN PhD Samukelisiwe Nyamathe MBChB Conran Joseph PhD Lee-Ann Jacobs-Nzuzi Khuabi PhD Rene G. English MBChB MMed FCPHM PhD Adriaan Vlok MBChB FC MMed PhD Elaine Erasmus FCEM MMed EM DipPEC MBChB Heike I. Geduld MBChB FCEM MMed Hendrick J. Lategan BSc MBBCh MMed FCEM Kathryn M. Chu MD MPH FACS FASCRS 《Journal of evaluation in clinical practice》2023,29(2):380-391
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Rami A. Ballout Cheryl Dickerson Myra J. Wick Najla Al‐Sweel Amanda S. Openshaw Siddharth Srivastava Lindsay C. Swanson Nuria C. Bramswig Alma Kuechler Bo Hong Leah R. Fleming Kathryn Curry Stephen P. Robertson Erica F. Andersen Ayman W. El‐Hattab 《Human mutation》2020,41(7):1238-1249
Int22h1/Int22h2‐mediated Xq28 duplication syndrome is a relatively new X‐linked intellectual disability syndrome, arising from duplications of the subregion flanked by intron 22 homologous regions 1 and 2 on the q arm of chromosome X. Its primary manifestations include variable cognitive deficits, distinct facial dysmorphia, and neurobehavioral abnormalities that mainly include hyperactivity, irritability, and autistic behavior. Affected males are hemizygous for the duplication, which explains their often more severe manifestations compared with heterozygous females. In this report, we describe the cases of nine individuals recently identified having the syndrome, highlighting unique and previously unreported findings of this syndrome. Specifically, we report for the first time in this syndrome, two cases with de novo duplications, three receiving prenatal diagnosis with the syndrome, and three others having atypical versions of the duplication. Among the latter, one proband has a shortened version spanning only the centromeric half of the typical duplication, while the other two cases have a nearly identical length duplication as the classical duplication, with the exception that their duplication's breakpoints are telomerically shifted by about 0.2 Mb. Finally, we shed light on two new manifestations in this syndrome, vertebral anomalies and multiple malignancies, which possibly expand the phenotypic spectrum of the syndrome. 相似文献
34.
Martina Moras Claude Hattab Pedro Gonzalez-Menendez Claudio M. Fader Michael Dussiot Jerome Larghero Caroline Le Van Kim Sandrina Kinet Naomi Taylor Sophie D. Lefevre Mariano A. Ostuni 《Haematologica》2022,107(1):167
Erythroblast maturation in mammals is dependent on organelle clearance throughout terminal erythropoiesis. We studied the role of the outer mitochondrial membrane protein voltage-dependent anion channel-1 (VDAC1) in human terminal erythropoiesis. We show that short hairpin (shRNA)-mediated downregulation of VDAC1 accelerates erythroblast maturation. Thereafter, erythroblasts are blocked at the orthochromatic stage, exhibiting a significant decreased level of enucleation, concomitant with an increased cell death. We demonstrate that mitochondria clearance starts at the transition from basophilic to polychromatic erythroblast, and that VDAC1 downregulation induces the mitochondrial retention. In damaged mitochondria from non-erythroid cells, VDAC1 was identified as a target for Parkin-mediated ubiquitination to recruit the phagophore. Here, we showed that VDAC1 is involved in phagophore’s membrane recruitment regulating selective mitophagy of still functional mitochondria from human erythroblasts. These findings demonstrate for the first time a crucial role for VDAC1 in human erythroblast terminal differentiation, regulating mitochondria clearance. 相似文献
35.
Meroditerpenoids and derivatives from the brown alga Cystoseira baccata and their antifouling properties 总被引:1,自引:0,他引:1
Mokrini R Mesaoud MB Daoudi M Hellio C Maréchal JP El Hattab M Ortalo-Magné A Piovetti L Culioli G 《Journal of natural products》2008,71(11):1806-1811
The brown alga Cystoseira baccata harvested along the Atlantic coasts of Morocco yielded seven new meroditerpenoids (1-4) and derivatives (5-7), whose chemical structures were elucidated mainly by 2D NMR and mass spectrometry. Surprisingly, for all these compounds, which possess a bicyclo[4.3.0]nonane ring system, a trans fusion of the bicyclic system was deduced by stereochemical studies even though such compounds isolated from Cystoseira species are known to have a typical cis orientation for the bridgehead methyls. The antifouling and antibacterial activities of compounds 1-5 and 7 were evaluated, as well as their toxicity toward nontarget species. Compounds 4, 5, and 7 showed antifouling activities against growth of microalgae, macroalgal settlement, and mussel phenoloxidase activity, while being nontoxic to larvae of sea urchins and oysters. 相似文献
36.
Background Hereditary pancreatitis is an important cause of chronic pancreatitis, which may result in endocrine and exocrine failure.
This may necessitate simultaneous pancreas and kidney transplant (SPK). Bladder drainage of the exocrine secretions may cause
problems.
Aim To report one such case and its surgical correction.
Methods A 20-year-old male with insulin-dependent diabetes mellitus secondary to idiopathic chronic pancreatitis had a SPK with bladder
drainage. Urological and metabolic complications secondary to the drainage of pancreatic secretions, rich in proteolytic enzymes
required convertion from bladder to enteric drainage.
Results He was able to discontinue his pancreatic enzyme supplements, ceased to have steatorrhoea and gained weight. He was referred
to the €pean Registry of Hereditary Pancreatitis and Familial Pancreatic Cancer (€PAC), hereditary pancreatitis was confirmed
by genetic analysis.
Conclusion Enteric-drained pancreas transplantation is a successful treatment for exocrine as well as endocrine pancreatic failure and
should be considered as a treatment option in patients with chronic pancreatitis. 相似文献
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EM Laursen A Juul S Lanng N H?iby C Koch J Müller NE Skakkebaek 《Archives of disease in childhood》1995,72(6):494-497
Cystic fibrosis is frequently accompanied by a catabolic condition with low body mass index caused by a number of disease complications. Insulin-like growth factor-I (IGF-I) is an anabolic hormone and an important marker of nutritional status, liver function, and linear growth. Available data on IGF-I in cystic fibrosis are sparse and conflicting. From 1990-3, 235 of our 240 patients (114 males, 121 females, median age 16.2 years, ranged 0.1-44.0 years) had IGF-I measured once by radioimmunoassay. IGF-I was significantly reduced compared with a healthy Scandinavian control population: mean (-2 SD to +2 SD) IGF-I SD score was -0.97 (-3.7 to 1.7) in males and -0.67 (-3.2 to 1.9) in females. Height SD score was -0.95 (-3.3 to 1.4) in males and -0.81 (-3.2 to 1.6) in females. In patients who were still in the growth period a significant correlation of IGF-I SD score to height SD score (r = 0.28, p < 0.001) was found. The low IGF-I concentrations may reflect the catabolic state of many patients with cystic fibrosis and play a part in their abnormal growth pattern. 相似文献
39.
40.
Etiology and diagnosis of tooth wear: a literature review and presentation of selected cases 总被引:2,自引:0,他引:2
PURPOSE: This article presents an overview of etiologies associated with tooth wear. MATERIALS AND METHODS: Specific types of wear based on clinical findings and patient history are described. RESULTS: The occurrence and pattern of tooth wear are related to cultural, dietary, occupational, and geographic factors. Examples of tooth wear related to these factors with regional specificity are presented. CONCLUSION: The dental practitioner should recognize the characteristic signs of tooth wear, as they may be the first to discuss the problem with the patient. Management should be based on accurate diagnosis. 相似文献