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101.

Purpose

The purpose of this study was to evaluate treatment and surgical outcomes of patients of Beckwith-Wiedemann Syndrome (BWS) treated at a tertiary children's hospital.

Methods

A retrospective review of infants evaluated at Texas Children's Hospital for BWS from August 2000 to December 2016 was performed. Data collected included demographic information, clinical presentation, genetic evaluation, fetal imaging, operative treatment, and outcomes.

Results

Forty-seven children with a diagnosis of BWS were identified. Sixty-four percent (n=30) had a genetic mutation in an imprinting domain of chromosome 11p15. Thirty-two patients (68%) underwent at least one operation related to BWS with a median of 2 [range: 0–8] surgical procedures per patient. Sixteen underwent omphalocele repair, 12 had partial glossectomies-, 7 underwent surgeries related to hemihypertrophy, and 6 had resection of an embryonal tumor (two adrenal cortical adenoma, one Wilms' tumor, two hepatoblastoma). Overall, survival was 100% with feeding difficulty (47%) being the most frequent complication.

Conclusion

A substantial number of patients with Beckwith-Wiedemann Syndrome will require surgery. However, overall outcomes are similar between those that require surgery and those that do not.

Level of Evidence

Level III.  相似文献   
102.

Objective

The pathological classification of hippocampal sclerosis is based on the loss of neurons in the substructures of the hippocampus. This study aimed to evaluate these substructures in patients with hippocampal sclerosis by magnetic resonance imaging and to compare the usefulness of this morphological analysis compared to that of volumetric analysis of the entire hippocampus.

Material and methods

We included 25 controls and 25 patients with hippocampal sclerosis whose diagnosis was extracted from the institutional epilepsy board. We used FreeSurfer to process the studies and obtain the volumetric data. We evaluated overall volume and volume by substructure: fimbria, subiculum, presubiculum, hippocampal sulcus, CA1, CA2–CA3, CA4, and dentate gyrus (DG). We considered p < 0.05 statistically significant.

Results

We observed statistically significant decreases in the volume of the hippocampus ipsilateral to the epileptogenic focus in 19 (76.0%) of the 25 cases. With the exception of the hippocampal sulcus, we observed a decrease in all ipsilateral hippocampal substructures in patients with right hippocampal sclerosis (CA1, p=0.0223; CA2–CA3, p=0.0066; CA4–GD, p=0.0066; fimbria, p=0.0046; presubiculum, p=0.0087; subiculum, p=0.0017) and in those with left hippocampal sclerosis (CA1, p<0.0001; CA2–CA3, p<0. 0001; CA4–GD, p<0. 0001; fimbria, p=0.0183; presubiculum, p<0. 0001; subiculum, p<0. 0001). In four patients with left hippocampal sclerosis, none of the substructures had statistically significant alterations, although a trend toward atrophy was observed, mainly in CA2–CA3 and CA4–GD.

Conclusion

The findings suggest that it can be useful to assess the substructures of the hippocampus to improve the performance of diagnostic imaging in patients with hippocampal sclerosis.  相似文献   
103.
The usual surgical treatment for patients with Barrett's esophagus (BE) is a classic Nissen fundoplication or posterior gastropexy with cardial calibration. However, some surgical reports as well as our experience suggest that the rate of failure of the Nissen fundoplication or Hill's posterior gastropexy in patients with BE is significantly higher than in those with reflux esophagitis without BE, probably due in part to the persistence of duodenal reflux into the esophagus. Our aim was to determine the late subjective and objective results of an operation consisting in "acid suppression" (vagotomy-partial gastrectomy) and "duodenal diversion" (Roux-en-Y anastomosis) as a primary surgical procedure for patients with BE. Altogether, 210 patients were subjected to this technique. It consisted in a primary operation in 142 patients and revision surgery in 68. They underwent complete clinical, radiologic, endoscopic, histologic, and manometric studies. In some cases 24-hour pH studies, Bilitec studies, gastric emptying, and gastric acid secretion evaluations were performed. There were two deaths (0.95%), and postoperative morbidity was low (5.3%). The late mean follow-up (58 months) for 146 patients who completed a follow-up longer than 24 months showed Visick I and II grades in 91.1% of the cases. In 14.9% of the cases 24-hour pH monitoring showed excessive acid reflux 1 year after surgery. No dysplasia or adenocarcinoma has appeared up to now. Functional studies showed significant alleviation of lower esophageal sphincter (LES) incompetence, with abolition of duodenal reflux into the esophagus. Gastric emptying of solids was normal, and basal and peak gastric acid output remained at a low level 8 to 10 years after surgery. In patients with BE, with severe damage of the LES and esophageal peristalsis, the "suppression diversion" operation completely abolishes the reflux of injurious components of the refluxate and improves sphincter competence. This effect is permanent and avoids the appearance of dysplasia or adenocarcinoma.  相似文献   
104.
Benign esophageal stricture is a serious complication of persistent gastroesophageal reflux in patients with esophagitis and Barrett's esophagus. A classification of the severity of the stricture is proposed, based on its internal diameter, its length, and the ease or difficulty in dilating it. Among 185 patients with esophageal strictures secondary to reflux esophagitis, 77 (41.6%) corresponded to type I or mild stricture, 73 (39.4%) to type II or moderate, and 35 (19.6%) to type III. Medical treatment was performed in only 15 cases, with 73% recurrence. Three types of surgical procedures were employed, always after dilatation, improvement of nutritional status, and a complete preoperative work-up: (1) conservative antireflux surgery, which had a high incidence of recurrence (41.1%); (2) acid suppression and duodenal diversion, in which 68 patients had a mortality rate of 2.9% and a recurrence rate of 4.4% (p <0.002); and (3) esophageal resection, which in 7 patients resulted in 1 death and no late recurrence. It is concluded that classification of the severity of the stricture is important to indicate the most appropriate treatment. Conservative antireflux surgery is followed by a high recurrence rate at late follow-up, whereas acid suppression and duodenal diversion seem to be an adequate procedure that is followed by a very low recurrence rate. Esophageal resection is indicated only for patients with severe or critical esophageal strictures.  相似文献   
105.
We evaluated the reproducibility of the Brooker classification for heterotopic ossification (HO) and, based on the results and weaknesses observed, proposed a simplified system with addition of objective criteria. Six observers classified radiographs of 169 total hip arthroplasties, using the Brooker classification and a modified system consisting of i) absence of HO or islands measuring <1 cm in length, ii) islands >1 cm or spurs leaving at least 1 cm between femur and pelvis, and iii) spurs leaving <1 cm between opposing surfaces or bony ankylosis. Reproducibility was calculated using kappa statistics. For the Brooker classification, interobserver kappa averaged 0.43 (range, 0.74-0.18) (poor). Intraobserver kappa averaged 0.74 (fair). For the modified classification, interobserver kappa averaged 0.59 (range, 0.51-0.76) (fair). Intraobserver kappa averaged 0.78 (good). Interobserver differences were significant (P=.0085). Interobserver consistency to detect severe HO (Brooker 3 and 4, or grade C) improved from 52% to 76% with the modified system. The new classification showed adequate interobserver reproducibility, less variability, and improved consistency for classification of significant HO.  相似文献   
106.
An infant food product was manufactured by drum drying a pre-cooked slurry of quinoa (Chenopodium quinoa, Willd) flour. The chemical composition shows that the product is a potential source of valuable nutrients, like protein (16%), vitamin E (19 mg/kg), thiamine (0.7 mg/100 g), iron (70 mg/kg), zinc (48 mg/kg) and magnesium (1.8 g/kg), all the values expressed on dry basis, to pre-school children (of 5 years of age). The animal feeding experiments with rats showed a net protein utilisation (NPU) of 68, digestibility (TD) 95 and biological value (BV) 71. The level of insulin-like growth factor-1 (IGF-1) in the plasma of the children who consumed a supplementary portion of 2 x 100 g of the above infant food product showed an increase after a period of 15 days, while the plasma level of IGF-1 in the children of the control group as well as the reference group did not show any significant increase.  相似文献   
107.
The effects of acamprosate, a drug thought to interact with N-methyl-D-aspartate (NMDA) receptors in the central nervous system (CNS), were examined on the antinociceptive action of morphine, induction of tolerance to and physical dependence on morphine, and expression of the abstinence syndrome to the opiate in mice. For the induction of tolerance and dependence, morphine (300 mg/kg) was administered by means of a slow-release preparation. Single doses of acamprosate (50, 100, 200, or 400 mg/kg) administered 30 min before a test dose of morphine did not change the antinociceptive effects of morphine in drug-naive mice. The drug was also administered in repeated doses (50, 100, 200, or 400 mg/kg, 30 min before and 12 and 24 h after the priming dose of morphine) in order to evaluate its effects on the induction of tolerance; all doses assayed, except the 400 mg/kg, did not affect the intensity of tolerance. The acute administration of acamprosate (50, 100, 200, or 400 mg/kg, injected 30 min before naloxone to morphine-pretreated mice) did not affect the intensity of the abstinence behavior. However, the repeated administration of 100 mg/kg of acamprosate (30 min before and 12 and 24 h after the priming dose of morphine) decreased the intensity of physical dependence. The results of these studies suggest that acamprosate may have modulatory effects on glutamatergic neurotransmission participating in the adaptive mechanisms induced by chronic morphine treatment.  相似文献   
108.
The petrosal ganglion (PG) provides sensory innervation to the carotid sinus and carotid body through the carotid (sinus) nerve (CN). Application of either acetylcholine (ACh) or adenosine 5'-triphosphate (ATP) to the PG superfused in vitro activates CN fibers. Dopamine (DA) modulates the effects of ACh. We have previously shown that DA when applied to the PG modulates the effects of ACh on carotid sinus nerve fibers. We currently report the effects of DA on the ATP-induced responses in the isolated PG in vitro. While DA had no effect on the basal activity recorded from the CN, it reduced ATP-induced responses in a dose-dependent manner, when preceding ATP applications by 30 s. Our results suggest that DA-a transmitter present in a group of PG neurons and in carotid body cells-may act as an inhibitory modulator of ATP-evoked responses in PG neurons.  相似文献   
109.
Cladophialophora bantiana is a dematiaceous fungus, associated with brain abscess in normal or immunosuppressed patients. We report a case of CNS infection in this agent unsuccessfully treated by surgery and various antifungal compounds including high doses of voriconazole (6 mg/kg bid). No adverse effects related to this compound were observed.  相似文献   
110.
BACKGROUND: Classic surgical treatment of upper third gastric carcinoma is based on an extended total gastrectomy, including splenectomy. The purpose of this study was to perform a prospective randomized clinical trial comparing the early and late results of total gastrectomy (TG) versus total gastrectomy plus splenectomy (TGS). METHODS: One hundred eighty-seven patients with gastric carcinoma were included. In all patients a D2 total gastrectomy was performed. During surgery they were randomized to 1 of 2 operative options. They were monitored to their death or to 5 years later if they were alive. RESULTS: Operative mortality was similar after both operations (3% after TG and 4% after TGS). Septic complications after surgery were higher after TGS compared with TG (P <.04). Five-year survival rates were not statistically different between groups or in subset analysis according to stage of disease. CONCLUSIONS: On the basis of the results of the present prospective randomized trial, splenectomy is not necessary in early stages of disease. A low operative mortality rate (less than 3%) must be achieved to obtain good long-term results.  相似文献   
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