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排序方式: 共有478条查询结果,搜索用时 19 毫秒
1.
Astrid Ruiz-Marg in Berenice M Rom n-Calleja Paulina Moreno-Guill n Jos A Gonz lez-Regueiro Deyanira K sulas-Delint Alejandro Campos-Murgu a Nayelli C Flores-Garc a Ricardo Ulises Mac as-Rodr guez 《World journal of gastrointestinal oncology》2021,13(10):1440-1452
Hepatocellular carcinoma (HCC) is the most frequent primary liver cancer and presents together with cirrhosis in most cases. In addition to commonly recognized risk factors for HCC development, such as hepatitis B virus/hepatitis C virus infection, age and alcohol/tobacco consumption, there are nutritional risk factors also related to HCC development including high intake of saturated fats derived from red meat, type of cooking (generation of heterocyclic amines) and contamination of foods with aflatoxins. On the contrary, protective nutritional factors include diets rich in fiber, fruits and vegetables, n-3 polyunsaturated fatty acids and coffee. While the patient is being evaluated for staging and treatment of HCC, special attention should be paid to nutritional support, including proper nutritional assessment and therapy by a multidisciplinary team. It must be considered that these patients usually develop HCC on top of long-lasting cirrhosis, and therefore they could present with severe malnutrition. Cirrhosis-related complications should be properly addressed and considered for nutritional care. In addition to traditional methods, functional testing, phase angle and computed tomography scan derived skeletal muscle index-L3 are among the most useful tools for nutritional assessment. Nutritional therapy should be centered on providing enough energy and protein to manage the increased requirements of both cirrhosis and cancer. Supplementation with branched-chain amino acids is also recommended as it improves response to treatment, nutritional status and survival, and finally physical exercise must be encouraged and adapted to individual needs. 相似文献
2.
Berenice Mathisen Sheena Reilly David Skuse 《Developmental medicine and child neurology》1992,34(2):141-149
The oral-motor function of 10 infants with Turner syndrome and their age- and sex-matched controls were assessed during feeding. In addition to well-recognised dysmorphic features, including oral anomalies and high-arched palates, index infants had marked hypotonia of the cheeks and lips, dysfunctional tongue movements and poorly developed chewing skills. Their meal-times were significantly shorter than those of the controls and they weighed significantly less at six, 12 and 15 months. All mothers of infants with Turner syndrome complained of difficulties feeding their children and these problems often had been present since birth. 相似文献
3.
4.
Trisomy 7 mosaicism, maternal uniparental heterodisomy 7 and Hirschsprung's disease in a child with Silver-Russell syndrome 总被引:1,自引:0,他引:1
Flori E Girodon E Samama B Becmeur F Viville B Girard-Lemaire F Doray B Schluth C Marcellin L Boehm N Goossens M Pingault V 《European journal of human genetics : EJHG》2005,13(9):1013-1018
Prenatal trisomy 7 is usually a cell culture artifact in amniocytes with normal diploid karyotype at birth and normal fetal outcome. In the same way, true prenatal trisomy 7 mosaicism usually results in a normal child except when trisomic cells persist after birth or when trisomy rescue leads to maternal uniparental disomy, which is responsible for 5.5-7% of patients with Silver-Russell syndrome (SRS). We report here on the unusual association of SRS and Hirschsprung's disease (HSCR) in a patient with maternal uniparental heterodisomy 7 and trisomy 7 mosaicism in intestine and skin fibroblasts. HSCR may be fortuitous given its frequency, multifactorial inheritance and genetic heterogeneity. However, the presence of the trisomy 7 mosaicism in intestine as well as in skin fibroblasts suggests that SRS and HSCR might possibly be related. Such an association might result from either an increased dosage of a nonimprinted gene due to trisomy 7 mosaicism in skin fibroblasts (leading to SRS) and in intestine (leading to HSCR), or from an overexpression, through genomic imprinting, of maternally expressed imprinted allele(s) in skin fibroblasts and intestine or from a combination of trisomy 7 mosaicism and genomic imprinting. This report suggests that the SRS phenotype observed in maternal uniparental disomy 7 (mUPD(7)) patients might also result from an undetected low level of trisomy 7 mosaicism. In order to validate this hypothesis, we propose to perform a conventional and molecular cytogenetic analysis in different tissues every time mUPD7 is displayed. 相似文献
5.
Doray B; Salomon R; Amiel J; Pelet A; Touraine R; Billaud M; Attie T; Bachy B; Munnich A; Lyonnet S 《Human molecular genetics》1998,7(9):1449-1452
Hirschsprung disease (HSCR) is a frequent neurocristopathy characterized by
the absence of submucosal and myenteric plexuses in a variable length of
the gastrointestinal tract. Pedigrees and segregation analyses suggested
the involvement of one or several dominant genes with low penetrance in
HSCR. Considering that RET and glial cell line-derived neurotrophic factor
(GDNF) mutations have been reported in the disease, we regarded the other
RET ligand, neurturin (NTN), as an attractive candidate gene, especially as
it shares large homologies with GDNF. Here, we report on the finding of a
heterozygous missense NTN mutation in a large non-consanguineous family
including four children affected with a severe aganglionosis phenotype
extending up to the small intestine. Interestingly, it appears that the NTN
mutation reported here is not sufficient to cause HSCR, and this multiplex
family also segregates a RET mutation. This cascade of independent and
additive genetic events fits well with the multigenic pattern of
inheritance expected in HSCR, and further support the role of RET ligands
in development of the enteric nervous system.
相似文献
6.
Roberto Iglesias Lopes Caio Vinicius Suartz Rubens Pedrenho Neto Ricardo Haidar Berjeaut Berenice Mendonca Madson Q. Almeida Maria Cândida Villares Fragoso Francisco Tibor Dénes 《Journal of pediatric surgery》2021,56(4):768-771
AimThe aim of this study is to present our experience in the management of hormonally active adrenal tumors in children.Material and methodsWe did a retrospective chart review of all children with hormonally active adrenal tumors evaluated at the endocrinology clinic and operated at our institution between 1983 and 2019.ResultsThere were 75 patients included in the study, 58 with adrenocortical tumors (ACTs) and 17 with pheochromocytomas (PCCs). Within the group of patients with ACTs, there were 41 females and 17 males. The mean age was 58.3 (SD: 87.9; range: 9–211) months. The clinical manifestation of the tumor's hormonal activity was virilization in 37 cases, Cushing syndrome in 5, and mixed in 16. A positive family history was present in 11 patients (18.9%). The mean tumor size was 48.2 (SD: 22.4; range: 7–120) mm. The pathological diagnosis was adenoma in 42 cases, carcinoma in 15 cases, and macronodular hyperplasia in 1. Median follow-up was 192 (range: 50–290) months. Tumor recurrence occurred in 6 patients (10.3%), and there were three disease-related deaths (5%). Within the group of patients with PCCs, there were 11 males and 6 females. The mean age was 146.7 (SD: 71.2; range: 60–216) months. A positive family history was present in 7 patients (41.2%). The mean tumor size was 36.6 (SD: 16.7; range: 7–120) mm. The pheochromocytoma was classified as benign in 15 cases and as malignant in 2. During a median follow-up of 180 (range: 127–300) months, recurrence was observed in 6 cases (35.3%) and disease-related death in 1 case (5.9%).ConclusionsProper diagnosis and management at our referral center were associated with a high cure rate, even in cases of malignant tumors. Familial surveillance is highly recommended.Level of evidenceLevel IV. 相似文献
7.
Emilia Modolo Pinto Sheila A. C. Siqueira Priscilla Cukier Maria C. B. V. Fragoso Chin Jia Lin Berenice Bilharinho de Mendonca 《Pituitary》2011,14(4):400-404
Nelson’s syndrome (NS) is characterized by the appearance and/or progression of ACTH-secreting pituitary macroadenomas in
patients who had previously undergone bilateral adrenalectomy for the treatment of Cushing’s disease. Such corticotroph macroadenomas
respond poorly to currently available therapeutic options which include surgery, radiotherapy and chemotherapy. P53 protein
accumulation may be detected by immunohistochemistry in pituitary corticotroph adenomas and it has been suggested that it
might be causally related to tumor development. Wild type P53 protein plays an important role in the cellular response to
ionizing radiation and other DNA damaging agents and is mutated in many human tumors. In this study we report an adult male
patient with NS who underwent both transsphenoidal and transcranial pituitary surgeries, conventional and stereotaxic radiotherapy
and brachytherapy. Despite of the efforts to control tumor mass and growth, this macroadenoma displayed relentless growth
and aggressive behavior. DNA extracted from the first two surgical samples, as well as DNA from peripheral blood leukocytes
disclosed normal p53 sequence. DNA extracted from tumor samples obtained at surgeries performed after pituitary irradiation carried a somatic
heterozygous mutation, consisting of a deletion of four cytosines between nucleotides 12,144–12,149 in exon 4 of the p53 gene. This frameshift mutation creates a stop codon in exon 4 excluding the expression of a functional protein from the defective
allele. These data demonstrate a possible association between the P53 protein loss of function induced by radiotherapy and
the aggressive course of the disease in this patient. 相似文献
8.
9.
Sergio Raposeiras-Roubín Berenice Caneiro Queija Fabrizio D’Ascenzo Tim Kinnaird Albert Ariza-Solé Sergio Manzano-Fernández Christian Templin Lazar Velicki Ioanna Xanthopoulou Enrico Cerrato Giorgio Quadri Andrea Rognoni Giacome Boccuzzi Andrea Montabone Salma Taha Alessandro Durante Sebastiano Gili Giulia Magnani Emad Abu-Assi 《Revista espa?ola de cardiología》2019,72(3):215-223
Introduction and objectives
The PARIS score allows combined stratification of ischemic and hemorrhagic risk in patients with ischemic heart disease treated with coronary stenting and dual antiplatelet therapy (DAPT). Its usefulness in patients with acute coronary syndrome (ACS) treated with ticagrelor or prasugrel is unknown. We investigated this issue in an international registry.Methods
Retrospective multicenter study with voluntary participation of 11 centers in 6 European countries. We studied 4310 patients with ACS discharged with DAPT with ticagrelor or prasugrel. Ischemic events were defined as stent thrombosis or spontaneous myocardial infarction, and hemorrhagic events as BARC (Bleeding Academic Research Consortium) type 3 or 5 bleeding. Discrimination and calibration were calculated for both PARIS scores (PARISischemic and PARIShemorrhagic). The ischemic-hemorrhagic net benefit was obtained by the difference between the predicted probabilities of ischemic and bleeding events.Results
During a period of 17.2 ± 8.3 months, there were 80 ischemic events (1.9% per year) and 66 bleeding events (1.6% per year). PARISischemic and PARIShemorrhagic scores were associated with a risk of ischemic events (sHR, 1.27; 95%CI, 1.16-1.39) and bleeding events (sHR, 1.14; 95%CI, 1.01-1.30), respectively. The discrimination for ischemic events was modest (C index = 0.64) and was suboptimal for hemorrhagic events (C index = 0.56), whereas calibration was acceptable for both. The ischemic-hemorrhagic net benefit was negative (more hemorrhagic events) in patients at high hemorrhagic risk, and was positive (more ischemic events) in patients at high ischemic risk.Conclusions
In patients with ACS treated with DAPT with ticagrelor or prasugrel, the PARIS model helps to properly evaluate the ischemic-hemorrhagic risk. 相似文献10.
Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith–Wiedemann Syndrome: Clinical Spectrum and Functional Characterization
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Frederic Brioude Irène Netchine Francoise Praz Marilyne Le Jule Claire Calmel Didier Lacombe Patrick Edery Martin Catala Sylvie Odent Bertrand Isidor Stanislas Lyonnet Sabine Sigaudy Bruno Leheup Séverine Audebert‐Bellanger Lydie Burglen Fabienne Giuliano Jean‐Luc Alessandri Valérie Cormier‐Daire Fanny Laffargue Sophie Blesson Isabelle Coupier James Lespinasse Patricia Blanchet Odile Boute Clarisse Baumann Michel Polak Berenice Doray Alain Verloes Géraldine Viot Yves Le Bouc Sylvie Rossignol 《Human mutation》2015,36(9):894-902
Beckwith–Wiedemann syndrome (BWS) is an imprinting disorder associating macroglossia, abdominal wall defects, visceromegaly, and a high risk of childhood tumor. Molecular anomalies are mostly epigenetic; however, mutations of CDKN1C are implicated in 8% of cases, including both sporadic and familial forms. We aimed to describe the phenotype of BWS patients with CDKN1C mutations and develop a functional test for CDKN1C mutations. For each propositus, we sequenced the three exons and intron–exon boundaries of CDKN1C in patients presenting a BWS phenotype, including abdominal wall defects, without 11p15 methylation defects. We developed a functional test based on flow cytometry. We identified 37 mutations in 38 pedigrees (50 patients and seven fetuses). Analysis of parental samples when available showed that all mutations tested but one was inherited from the mother. The four missense mutations led to a less severe phenotype (lower frequency of exomphalos) than the other 33 mutations. The following four tumors occurred: one neuroblastoma, one ganglioneuroblastoma, one melanoma, and one acute lymphoid leukemia. Cases of BWS caused by CDKN1C mutations are not rare. CDKN1C sequencing should be performed for BWS patients presenting with abdominal wall defects or cleft palate without 11p15 methylation defects or body asymmetry, or in familial cases of BWS. 相似文献