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排序方式: 共有1609条查询结果,搜索用时 15 毫秒
31.
32.
Delineation of EFTUD2 Haploinsufficiency‐Related Phenotypes Through a Series of 36 Patients 下载免费PDF全文
Myriam Oufadem Géraldine Goudefroye Lucile Boutaud Jean‐Luc Alessandri Neus Baena Geneviève Baujat Clarisse Baumann Odile Boute‐Benejean Roseline Caumes Charles Decaestecker Dominique Gaillard Alice Goldenberg Marie Gonzales Muriel Holder‐Espinasse Marie‐Line Jacquemont Didier Lacombe Sylvie Manouvrier‐Hanu Sandrine Marlin Michèle Mathieu‐Dramard Gilles Morin Laurent Pasquier Florence Petit Marlène Rio Robert Smigiel Christel Thauvin‐Robinet Alexandre Vasiljevic Alain Verloes Valérie Malan Arnold Munnich Loïc de Pontual Michel Vekemans Stanislas Lyonnet Tania Attié‐Bitach Jeanne Amiel 《Human mutation》2014,35(4):478-485
Mandibulofacial dysostosis, Guion‐Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects. MFDGA emerges as a clinically recognizable entity, long underdiagnosed due to highly variable presentations. The main differential diagnoses are CHARGE and Feingold syndromes, oculoauriculovertebral spectrum, and other MFDs. EFTUD2, located on 17q21.31, encodes a component of the major spliceosome and is disease causing in MFDGA, due to heterozygous loss‐of‐function (LoF) mutations. Here, we describe a series of 36 cases of MFDGA, including 24 previously unreported cases, and we review the literature in order to delineate the clinical spectrum ascribed to EFTUD2 LoF. MFD, external ear anomalies, and intellectual deficiency occur at a higher frequency than microcephaly. We characterize the evolution of the facial gestalt at different ages and describe novel renal and cerebral malformations. The most frequent extracranial malformation in this series is OA, followed by CHDs and skeletal abnormalities. MFDGA is probably more frequent than other syndromic MFDs such as Nager or Miller syndromes. Although the wide spectrum of malformations complicates diagnosis, characteristic facial features provide a useful handle. 相似文献
33.
Albert M Wolthuis Christel Meuleman Carla Tomassetti Thomas D’Hooghe Anthony de Buck van Overstraeten André D’Hoore 《World journal of gastroenterology : WJG》2014,20(42):15616-15623
Endometriosis is a gynecological condition that presents as endometrial-like tissue outside the uterus and induces a chronic inflammatory reaction. Up to 15% of women in their reproductive period are affected by this condition. Deep endometriosis is defined as endometriosis located more than 5 mm beneath the peritoneal surface. This type of endometriosis is mostly found on the uterosacral ligaments, inside the rectovaginal septum or vagina, in the rectosigmoid area, ovarian fossa, pelvic peritoneum, ureters, and bladder, causing a distortion of the pelvic anatomy. The frequency of bowel endometriosis is unknown, but in cases of bowel infiltration, about 90% are localized on the sigmoid colon or the rectum. Colorectal involvement results in alterations of bowel habits such as constipation, diarrhea, tenesmus, dyschezia, and, rarely, rectal bleeding. Differential diagnosis must be made in case of irritable bowel syndrome, solitary rectal ulcer syndrome, and a rectal tumor. A precise diagnosis about the presence, location, and extent of endometriosis is necessary to plan surgical treatment. Multidisciplinary laparoscopic treatment has become the standard of care. Depending on the size of the lesion and site of involvement, full-thickness disc excision or bowel resection needs to be performed by an experienced colorectal surgeon. Long-term outcomes, following bowel resection for severe endometriosis, regarding pain and recurrence rate are good with a pregnancy rate of 50%. 相似文献
34.
Christel Vanroy Dirk Vissers Yves Vanlandewijck Hilde Feys Steven Truijen Marc Michielsen 《Topics in stroke rehabilitation》2013,20(2):98-105
Background: Despite confirmed reduced physical activity (PA) after stroke in various stages of recovery, the type of activities stroke patients executed and the time spent at different activity levels have not been sufficiently verified with stroke-validated assessment tools.Design: Observational study.Objective: To determine PA of sub-acute stroke patients hospitalized in a rehabilitation centre (HOS) compared to chronic home-living stroke patients (HOM) using objective and self-reported measures during 2 weekdays and 1 weekend day.Methods: Fifteen HOS and 15 HOM patients wore a Sense Wear Pro 2 accelerometer (METs*minutes/24 h) and a knee-worn pedometer Yamax Digi Walker SW 200 (steps) and filled in a coded activity diary (kcal/24 h; METs*minutes/24 h) during three consecutive days.Results: In HOM significantly more steps (stepstotal HOM = 18722.6 ± 10063.6; stepstotal HOS = 7097.8 ± 5850.5) and higher energy expenditure (EE) levels (EEtotal HOM = 7759.34 ± 2243.04; EEtotal HOS = 5860.15 ± 1412.78) were measured. In this group less moderate activity (≥3–6 ≤ METs) was performed on a weekday (pday1 = 0.006; pday2 = 0.027) and in total (p = 0.037). Few therapy hours (physical, occupational and speech therapy, and psychological support) were provided in HOM compared to HOS (p < 0.001). Vigorous activities were only seen in HOM. In both groups few patients executed sport activities.Conclusions: In HOM significantly more steps were performed and higher EE values were measured. However, participation in moderate activities and time spent on therapy were less in HOM. Evaluating PA with quantitative measures is feasible in both chronic home-living and sub-acute hospitalized patients with stroke. 相似文献
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Middeldorp CM de Geus EJ Beem AL Lakenberg N Hottenga JJ Slagboom PE Boomsma DI 《Behavior genetics》2007,37(2):294-301
We studied the association between the short/long promotor-based length polymorphism of the serotonin transporter gene (5-HTTLPR)
and neuroticism, anxiety and depression. Subjects included twins, their siblings and parents from the Netherlands Twin Register
(559 parents and 1,245 offspring). Subjects had participated between one and five times in a survey study measuring neuroticism,
anxiety and depression. Offspring of these families were also approached to participate in a psychiatric interview diagnosing
DSM-IV major depression. Within-family and total association between 5-HTTLPR and these traits were tested. Only three of
the 36 tests showed a significant effect of 5-HTTLPR (P < 0.05). These effects were in opposite directions, i.e. both negative and positive regression coefficients were found for
the s allele. No additive effect of the s allele was found for DSM-IV depression. Our results strongly suggest that there is no straightforward association between
5-HTTLPR and neuroticism, anxiety and depression.
Edited by Stacey Cherny 相似文献
39.
Purpose
To identify conditions allowing the use of cell-based models for studies of drug absorption during in vitro lipolysis of lipid-based formulations (LBFs).Methods
Caco-2 was selected as the cell-based model system. Monolayer integrity was evaluated by measuring mannitol permeability after incubating Caco-2 cells in the presence of components available during lipolysis. Pure excipients and formulations representing the lipid formulation classification system (LFCS) were evaluated before and after digestion. Porcine mucin was evaluated for its capacity to protect the cell monolayer.Results
Most undigested formulations were compatible with the cells (II-LC, IIIB-LC, and IV) although some needed mucin to protect against damaging effects (II-MC, IIIB-MC, I-LC, and IIIA-LC). The pancreatic extract commonly used in digestion studies was incompatible with the cells but the Caco-2 monolayers could withstand immobilized recombinant lipase. Upon digestion, long chain formulations caused more damage to Caco-2 cells than their undigested counterparts whereas medium chain formulations showed better tolerability after digestion.Conclusions
Most LBFs and components thereof (undigested and digested) are compatible with Caco-2 cells. Pancreatic enzyme is not tolerated by the cells but immobilized lipase can be used in combination with the cell monolayer. Mucin is beneficial for critical formulations and digestion products.40.