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61.
An intact enteric nervous system is required for normal gastrointestinal tract function. Several human conditions result from decreased innervation by enteric neurons; however, the genetic basis of enteric nervous system development and function is incompletely understood. In an effort to increase our understanding of the mechanisms underlying enteric nervous system development, we screened mutagenized zebrafish for changes in the number or distribution of enteric neurons. We also established a motility assay and rescreened mutants to learn whether enteric neuron number is correlated with gastrointestinal motility in zebrafish. We describe mutations isolated in our screen that affect enteric neurons specifically, as well as mutations that affect other neural crest derivatives or have pleiotropic effects. We show a correlation between the severity of enteric neuron loss and gastrointestinal motility defects. This screen provides biological tools that serve as the basis for future mechanistic studies. 相似文献
62.
Beatriz E. B. V. Bermudez Camila M. de Oliveira Mônica N. de Lima Cat Neiva I. R. Magdalena Adriane Celli 《American journal of medical genetics. Part A》2019,179(8):1426-1431
Down syndrome is the most common human chromosomal disorder. Among clinical findings, one constant concern is the high prevalence of gastrointestinal system alterations. The aim of this study was to determine the prevalence of gastrointestinal disorders at a Down syndrome outpatient clinic during a 10‐year follow‐up period. Data from medical files were retrospectively reviewed from 1,207 patients. Gastrointestinal changes occurred in 612 (50.7%). The most prevalent disorder was chronic intestinal constipation. Intestinal parasite occurred in 22% (mainly giardiasis), gastroesophageal reflux disease in 14%, digestive tract malformations occurred in 5%: 13 cases of duodenal atresia, 8 of imperforate anus, 4 annular pancreases, 2 congenital megacolon, 2 esophageal atresias, 2 esophageal compression by anomalous subclavian and 1 case of duodenal membrane. We had 38/1,207 (3.1%) patients with difficulty in sucking and only three with dysphagia that resolved before the second year of life. Peptic ulcer disease, celiac disease, and biliary lithiasis were less prevalent with 3% each. Awareness of the high prevalence of gastrointestinal disorders promotes outstanding clinical follow‐up as well as adequate development and greater quality of life for patients with Down syndrome and their families. 相似文献
63.
Cutis laxa: autosomal dominant inheritance in five generations 总被引:3,自引:0,他引:3
Cutis laxa is described in three cases: a 17-year-old man, his mother and his maternal grandmother. The onset of skin symptoms occurred from puberty to early adulthood. The skin was loose-hanging, wrinkled and without elasticity. X-ray examination showed numerous gastrointestinal diverticulae in the two older patients, and both had been operated on for abdominal hernia and genital prolapse. There were no cardiopulmonary symptoms. Histopathological investigation showed a reduction in the amount of elastic tissue in the dermis, but normally localized and ultrastructurally normal components. The family history revealed clinically similar cases in at least five generations, consistent with autosomal dominant inheritance. 相似文献
64.
Epithelioid variant of gastrointestinal stromal tumor: Diagnosis by fine-needle aspiration 总被引:1,自引:0,他引:1
Epithelioid gastrointestinal stromal tumors (GISTs) may cause significant diagnostic confusion on fine-needle aspiration (FNA) with carcinomas, neuroendocrine tumors, and melanoma, particularly when metastatic. This study characterizes the cytologic features of nine cases of epithelioid GISTs that were obtained by computerized tomographic guidance in five, by endoscopic ultrasound in three, and from an excised liver tumor in one. Six cases presented as liver masses, one as a perisplenic mass, one as an abdominal mass, and one as a gastric mass. The aspirates revealed mainly single or small clusters of epithelioid cells with a moderate amount of granular to clear cytoplasm, small uniform nuclei with mild to marked nuclear envelope irregularities. Binucleation and intranuclear inclusions were frequent findings. Collagenous stroma was seen in most cases. In three cases, a neuroendocrine tumor was the initial diagnosis. Immunocytochemical staining for c-kit (CD117) was performed on cellblocks in six cases and was positive in five cases. On the subsequent surgical specimen, CD117 was positive in the c-kit-negative cytology case. The diagnosis of GIST should be considered in aspirates of the gastrointestinal tract, liver, mesentery, or abdominal wall mass lesions when epithelioid cells are the predominant cell type. Ancillary studies such as immunohistochemical stains are usually helpful in making a definitive diagnosis. 相似文献
65.
T. Mergner G. Rottler H. Kimmig W. Becker 《Experimental brain research. Experimentelle Hirnforschung. Expérimentation cérébrale》1992,89(3):655-668
Summary The contribution of vestibular and neck inputs to the perception of visual object motion in space was studied in the absence of a visual background (in the dark) in normal human subjects (Ss). Measures of these contributions were obtained by means of a closed loop nulling procedure; Ss fixed their eyes on a luminous spot (object) and nulled its actual or apparent motion in space during head rotation in space (vestibular stimulus) and/ or trunk rotation relative to the head (neck stimulus) with the help of a joystick. Vestibular and neck contributions were expressed in terms of gain and phase with respect to the visuo-oculomotor/joystick feedback loop which was assumed to have almost ideal transfer characteristics. The stimuli were applied as sinusoidal rotations in the horizontal plane (f= 0.025–0.8 Hz; peak angular displacements, 1–16°). Results: (1) During vestibular stimulation, Ss perceived the object, when kept in fixed alignment with the moving body, as moving in space. However, they underestimated the object motion; the gain was only about 0.7 at 0.2–0.8 Hz and clearly decreased at lower stimulus frequencies, while the phase exhibited a small lead. (2) During pure neck stimulation (trunk rotating relative to the stationary head), the object, when stationary, appeared to move in space counter to the trunk excursion. This neck-contingent object motion illusion was small at 0.2–0.8 Hz, but increased considerably with decreasing frequency, while its phase developed a small lag. (3) Vestibular, neck, and visuo-oculomotor effects summed linearly during combined stimulations. (4) The erroneous vestibular and neck contributions to the object motion perception were complementary to each other, and the perception became about veridical (G1, 0°), when both inputs were combined during head rotation with the trunk stationary. The results are simulated by an extended version of a computer model that previously had been developed to describe vestibular and neck effects on human perception of head motion in space. In the model, the perception of object motion in space is derived from the superposition of three signals, representing object to head, (visuo-oculomotor; head coordinates), head on trunk (neck; trunk coordinates), and trunk in space (vestibular-neck interaction; space coordinates).Supported by Deutsche Forschungsgemeinschaft, SFB 325 相似文献
66.
Fukunaga M 《APMIS : acta pathologica, microbiologica, et immunologica Scandinavica》2004,112(4-5):304-308
A rare case of fibromyxoma arising in the stomach of a 78-year-old male is presented. A well-defined, encapsulated tumor measuring 27x17x8 cm showed a lobular growth in the submucosa and muscularis propria, with no association with the propria mucosa. Histologically, the tumor was characterized by a diffuse, widely spaced proliferation of small spindle, stellate and round cells with dendritic outlines with fibromyxoid stroma. Neither cellular atypia nor mitotic figures were observed. Immunohistochemically, the tumor was positive for vimentin and CD34 but negative for CD117, alpha-smooth muscle actin, muscle actin, desmin and S-100 protein. Ultrastructurally, the tumor cells had irregularly shaped nuclei and cytoplasm containing moderate amounts of mitochondria, rough endoplasmic reticulum, subplasmalemmal densities, and short interdigitating processes. These findings indicated the fibroblastic nature of the tumor. The patient was well without recurrence 20 months after surgery. It is important to recognize that gastric fibromyxoma is a distinct entity and to include it in the differential diagnosis of gastric mesenchymal tumors, as the tumors show a different clinical behavior and as limited surgery with local excision is possible. 相似文献
67.
在颈椎生物力学研究中,通过离体实验对颈椎内植入固定器的生物力学性能进行评价是国际上普遍采用并认可的方法.本研究利用多靶点三维运动跟踪系统和USB数据采集卡,以LabVIEW和Matlab为软件开发平台,构建了颈椎内植入固定器生物力学性能测试系统.测试参数包括三维运动角度范围(ROM)和压力载荷值.对颈椎模型的测试结果表明,本系统能有效地用于颈椎生物力学的离体实验测试. 相似文献
68.
Laboratory of Experimental Surgery, A. V. Vishnevskii Institute of Surgery, Academy of Medical Sciences of the USSR, Moscow. (Presented by Academician of the Academy of Medical Sciences of the USSR M. I. Kuzin.) Translated from Byulleten' Éksperimental'noi Biologii i Meditsiny, Vol. 111, No. 6, pp. 617–619, June, 1991. 相似文献
69.
A case Is presented of intermediate lymphocytic lymphoma seen In a 53 year old mate, which extensively Infiltrated systemic organs, Including the entire digestive tract from the esophagus to the rectum. Payer's patch Invasion was evident. Multiple Intestinal perforations caused death 5 months later. Surface marker studies suggested the marginal zone origin for this CD2CT B cell malignancy. 相似文献
70.
M. RAHMAN M. L
RDAL A. AL-SAFFAR P. M. HELLSTR
M 《Acta physiologica (Oxford, England)》1994,151(4):497-505
We have studied the effect of a novel tachykinin, neuropeptide γ(NPγ) on small intestinal motility in the rat. Experiments were done in vitro on longitudinal muscle strips of duodenum, and in vivo on the migrating myoelectric complex (MMC) of the small intestine. In vitro, contractile effects of NPγ were compared with those of a selective neurokinin 1 (NK1) receptor agonist, substance P methyl ester (SPME), and a selective neurokinin 2 (NK2) receptor agonist, Nle10-NKA(4–10)(NleNKA). NPγ, SPME and NleNKA caused concentration-dependent contractions (P < 0.001). NPγ was eight-fold more potent than NleNKA, and 118-fold more potent than SPME. Contractile responses to NPγ were reduced by hexamethonium (P < 0.01) and atropine (P < 0.05). The non-selective NK receptor antagonist spantide I only slightly reduced the contractile response to NPγ, as did the selective NK1 antagonist GR 82334, and the selective NK2 antagonist L-659877 and MEN 10376. In vivo, effects of NPγ on the MMC were compared with those of the natural tachykinins substance P (SP) and neurokinin A (NKA). NPy disrupted the MMC and induced irregular spiking in a dose-dependent manner from 25 to 100 pmol kg-1 min-1 i.v. (P < 0.05). The effect of NPγ was more prominent than that of NKA at equal doses, while SP had no effect. Our findings show that NPγ exerts potent stimulatory effects on small intestinal motility, most likely mediated directly via distinct NK receptors on smooth muscle cells, but also indirectly via a cholinergic link. 相似文献