The effect of metoclopramide in capsule enteroscopy

Clinical utility of prokinetics in capsule endoscopy (CE) is not clearly established. The objective of this prospective, randomized, single-blind, controlled trial was to determine if metoclopramide is useful in CE by increasing the rate of complete enteroscopy. Ninety-five patients referred for CE were randomized to no metoclopramide (group B, n = 48) or 10 mg metoclopramide (group A, n = 47). Complete enteroscopy was possible in 38 patients of group A (80.9%) and 37 of group B (77.1%) (P = 0.422) with two cases of gastric retention in group B (4.2%; P = 0.253). Median gastric transit time was 26 min (1-211) in group A and 28 min (4-200) in group B (P = 0.511). Mean small bowel transit time, calculated after excluding 20 patients with incomplete enteroscopy, was similar in both groups (221.2 +/- 89 min vs. 256 +/- 82.2 min; P = 0.083). There were also no differences in the total number of findings (group A 4.5 +/- 4.7; group B 4.7 +/- 3.7, P = 0.815). Administration of 10 mg metoclopramide orally 15 min before capsule ingestion did not significantly increase the rate of total enteroscopies and had no effect on transit times. It also did not modify CE diagnostic yield.

Effect of portal hypertension in the small bowel: an endoscopic approach

BACKGROUND AND AIM: The effects of portal hypertension in the small bowel are largely unknown. The aim of the study was to prospectively assess portal hypertension manifestations in the small bowel. METHODS: We compared, by performing enteroscopy with capsule endoscopy, the endoscopic findings of 36 patients with portal hypertension, 25 cirrhotic and 11 non-cirrhotic, with 30 controls. RESULTS: Varices, defined as distended, tortuous, or saccular veins, and areas of mucosa with a reticulate pattern were significantly more frequent in patients with PTH. These two findings were detected in 26 of the 66 patients (39%), 25 from the group with PTH (69%) and one from the control group (3%) (P < 0.0001). Among the 25 patients with PTH exhibiting these patterns, 17 were cirrhotic and 8 were non-cirrhotic (P = 0.551). The presence of these endoscopic changes was not related to age, gender, presence of cirrhosis, esophageal or gastric varices, portal hypertensive gastropathy, portal hypertensive colopathy, prior esophageal endoscopic treatment, current administration of beta-blockers, or Child-Pugh Class C. More patients with these endoscopic patterns had a previous history of acute digestive bleeding (72% vs. 36%) (P = 0.05). Active bleeding was found in two patients (5.5%). CONCLUSIONS: The presence of varices or areas of mucosa with a reticulate pattern are manifestations of portal hypertension in the small bowel, found in both cirrhotic and non-cirrhotic patients. The clinical implications of these findings, as regards digestive bleeding, are uncertain, although we documented acute bleeding from the small bowel in two patients (5.5%).

Outcome analysis of intracorneal ring segments for the treatment of keratoconus based on visual, refractive, and aberrometric impairment

PURPOSE: To analyze the outcomes of intracorneal ring segment (ICRS) implantation for the treatment of keratoconus based on preoperative visual impairment. DESIGN: Multicenter, retrospective, nonrandomized study. METHODS: A total of 611 eyes of 361 keratoconic patients were evaluated. Subjects were classified according to their preoperative corrected distance visual acuity (CDVA) into 5 different groups: grade I, CDVA of 0.90 or better; grade II, CDVA equal to or better than 0.60 and worse than 0.90; grade III, CDVA equal to or better than 0.40 and worse than 0.60; grade IV, CDVA equal to or better than 0.20 and worse than 0.40; and grade plus, CDVA worse than 0.20. Success and failure indices were defined based on visual, refractive, corneal topographic, and aberrometric data and evaluated in each group 6 months after ICRS implantation. RESULTS: Significant improvement after the procedure was observed regarding uncorrected distance visual acuity in all grades (P < .05). CDVA significantly decreased in grade I (P < .01) but significantly increased in all other grades (P < .05). A total of 37.9% of patients with preoperative CDVA 0.6 or better gained 1 or more lines of CDVA, whereas 82.8% of patients with preoperative CDVA 0.4 or worse gained 1 or more lines of CDVA (P < .01). Spherical equivalent and keratometry readings showed a significant reduction in all grades (P ≤ .02). Corneal higher-order aberrations did not change after the procedure (P ≥ .05). CONCLUSIONS: Based on preoperative visual impairment, ICRS implantation provides significantly better results in patients with a severe form of the disease. A notable loss of CDVA lines can be expected in patients with a milder form of keratoconus.

Mesenchymal chondrosarcoma: prognostic factors and outcome in 113 patients. A European Musculoskeletal Oncology Society study

BACKGROUND: Mesenchymal chondrosarcoma (MCS) is a distinct, very rare sarcoma with little evidence supporting treatment recommendations. PATIENTS AND METHODS: Specialist centres collaborated to report prognostic factors and outcome for 113 patients. RESULTS: Median age was 30 years (range: 11-80), male/female ratio 1.1. Primary sites were extremities (40%), trunk (47%) and head and neck (13%), 41 arising primarily in soft tissue. Seventeen patients had metastases at diagnosis. Mean follow-up was 14.9 years (range: 1-34), median overall survival (OS) 17 years (95% confidence interval (CI): 10.3-28.6). Ninety-five of 96 patients with localised disease underwent surgery, 54 additionally received combination chemotherapy. Sixty-five of 95 patients are alive and 45 progression-free (5 local recurrence, 34 distant metastases, 11 combined). Median progression-free survival (PFS) and OS were 7 (95% CI: 3.03-10.96) and 20 (95% CI: 12.63-27.36) years respectively. Chemotherapy administration in patients with localised disease was associated with reduced risk of recurrence (P=0.046; hazard ratio (HR)=0.482 95% CI: 0.213-0.996) and death (P=0.004; HR=0.445 95% CI: 0.256-0.774). Clear resection margins predicted less frequent local recurrence (2% versus 27%; P=0.002). Primary site and origin did not influence survival. The absence of metastases at diagnosis was associated with a significantly better outcome (P<0.0001). Data on radiotherapy indications, dose and fractionation were insufficiently complete, to allow comment of its impact on outcomes. Median OS for patients with metastases at presentation was 3 years (95% CI: 0-4.25). CONCLUSIONS: Prognosis in MCS varies considerably. Metastatic disease at diagnosis has the strongest impact on survival. Complete resection and adjuvant chemotherapy should be considered as standard of care for localised disease.

Intrastromal corneal ring segments: how successful is the surgical treatment of keratoconus?

This review evaluates the outcomes of intrastromal corneal ring segment (ICRS) implantation for the treatment of keratoconus considering a new grading system based on the preoperative visual impairment of the patient. Additionally, a five-year follow-up analysis of patients with stable and progressive keratoconus is performed in order to assess the long term stability of the surgical procedure. Corrected distance visual acuity decreased statistically significantly in patients with mild keratoconus (P < 0.01) but statistically significantly increased in all other grades (P < 0.05). The improvement in visual acuity and the decrease of keratometric and aberrometric values were stable throughout a long period of time in patients with stable keratoconus. In patients with progressive form keratoconus, a significant improvement was found immediately after the procedure, however clinically relevant regression greater than 3 D was observed at the end of the follow up period.

Oculo-auriculo-vertebral spectrum: a review of the literature and genetic update

Oculo-auriculo-vertebral spectrum (OAVS, OMIM 164 210) is a developmental disorder primarily involving structures derived from the first and second pharyngeal arches during embryogenesis. The phenotype is clinically heterogeneous and is typically characterised by abnormal development of the ear, mandible anomalies and defects of the vertebral column. OAVS may occur as a multiple congenital abnormality, and associated findings include anomalies of the eye, brain, heart, kidneys and other organs and systems. Both genetic and environmental factors are thought to contribute to this craniofacial condition, however, the mechanisms are still poorly understood. Here, we present a review of the literature on OAVS, discussing what is known about the aetiology, candidate loci, possible mechanisms and the range of clinical features that characterise this condition. We also comment on some important aspects of recurrence risk counselling to aid clinical management.

Intellectual disability, coarse face, relative macrocephaly, and cerebellar hypotrophy in two sisters

We report on two Portuguese sisters with a very similar phenotype characterized by severe intellectual disability, absent speech, relative macrocephaly, coarse face, cerebellar hypotrophy, and severe ataxia. Additional common features include increased thickness of the cranial vault, delayed dental eruption, talipes equino-varus, clinodactyly, and camptodactyly of the fifth finger. The older sister has retinal dystrophy and the younger sister has short stature. Their parents are consanguineous. We suggest this condition constitutes a previously unreported autosomal recessive entity.

Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome

Intellectual disability and cerebellar atrophy occur together in a large number of genetic conditions and are frequently associated with microcephaly and/or epilepsy. Here we report the identification of causal mutations in Sorting Nexin 14 (SNX14) found in seven affected individuals from three unrelated consanguineous families who presented with recessively inherited moderate-severe intellectual disability, cerebellar ataxia, early-onset cerebellar atrophy, sensorineural hearing loss, and the distinctive association of progressively coarsening facial features, relative macrocephaly, and the absence of seizures. We used homozygosity mapping and whole-exome sequencing to identify a homozygous nonsense mutation and an in-frame multiexon deletion in two families. A homozygous splice site mutation was identified by Sanger sequencing of SNX14 in a third family, selected purely by phenotypic similarity. This discovery confirms that these characteristic features represent a distinct and recognizable syndrome. SNX14 encodes a cellular protein containing Phox (PX) and regulator of G protein signaling (RGS) domains. Weighted gene coexpression network analysis predicts that SNX14 is highly coexpressed with genes involved in cellular protein metabolism and vesicle-mediated transport. All three mutations either directly affected the PX domain or diminished SNX14 levels, implicating a loss of normal cellular function. This manifested as increased cytoplasmic vacuolation as observed in cultured fibroblasts. Our findings indicate an essential role for SNX14 in neural development and function, particularly in development and maturation of the cerebellum.

Síndrome do Lobo Frontal: uma entidade única?

Os autores procedem a uma revisão sobre a Síndrome do Lobo Frontal à luz dos conhecimentos actuais das neurociências e da neuropsicologia, em particular no que refere ao conceito de Teoria da Mente e aos avanços na definição e estudo das Funções Executivas. Reafirmam a perspectiva actual de que a designação de Síndrome do Lobo Frontal não reflecte a complexidade dos sistemas envolvidos na sua etiologia e reduz a uma única entidade quadros clínicos heterogéneos e com níveis distintos de incapacidade funcional e de interacção social.

Intervenção psicossocial na doença mental grave: revisão da evidência.

Introdução: Existe uma extensa quantidade de investigação empírica relativa a efectividade de várias intervenções psicossociais em pacientes com doenca mental grave (DMG). No entanto, estes resultados mostram-se, por vezes, contraditórios, fruto de trabalhos com sérias limitações metodológicas, sendo difícil a sua integração e aplicação na prática clínica. Objetivo: Revisão da literatura atual relativa à efetividade das várias intervenções psicossociais no doente mental grave, no âmbito da Psiquiatria Comunitária. Foram utilizadas bases de dados online – Medline, Cochrane Library, Embase e PsycINFO. Resultados: Os programas de treino de atividades diárias não evidenciam diferenças clinicamente significativas face a intervenções usuais. Os programas residenciais na comunidade parecem melhorar o funcionamento social, a integração no meio e a satisfação dos utentes com doença mental grave, além de promover a adesão à terapia farmacológica. Os programas dirigidos ao lazer e ao tempo livre parecem melhorar o funcionamento social dos indivíduos com DMG, bem como a satisfação geral. Em termos de programas orientados para o emprego, existe boa evidência quanto a programas com tipologias de emprego protegido ou apoio no emprego - colocação rápida, com treino prévio curto, e apoio individual frequente. Relativamente às intervenções ao nível dos serviços, o tratamento assertivo na comunidade está associado a uma maior probabilidade de manter o doente em contacto com os serviços, com efetiva redução dos internamentos hospitalares. O doente com DMG integrado em programa de terapeuta de referência – ‘Case Management’ (CM) – tem maior possibilidade de se manter em contacto com os serviços e maior adesão à medicação psicotrópica. O Case Management de aplicação intensiva poderá ter um desempenho mais eficiente face ao CM convencional, prevendo-se um melhor desempenho no paciente com DMG que tende a utilizar frequentemente os cuidados hospitalares. Os Hospitais de Dia (não-agudos) não evidenciam eficácia superior às intervenções regulares em termos de taxas de internamento, psicopatologia ou funcionamento social.

Internamentos Compulsivos: revisão da casuística dos HUC e HIP no triénio 2006-2008.

ão obstante terem passado mais de 10 anos sobre a publicação da Lei de Saúde Mental, o intenso debate e reflexão ocorridos não foram acompanhados por publicação, igualmente profusa, de investigação clínica sobre a epidemiologia dos internamentos compulsivos. Os autores procuraram caracterizar o arquétipo do doente submetido a internamento involuntário em Portugal, apreciando variáveis demográficas, clínicas e legais. Para esse fim, conduziu-se um estudo retrospectivo dos internamentos compulsivos ocorridos entre 2006 e 2008 em dois hospitais: os Hospitais da Universidade de Coimbra (HUC) e o Hospital Infante D. Pedro – Aveiro (HIP). Uma amostra de 384 internamentos foi recolhida e caracterizada, apresentando-se resultados desta investigação e discussão dos dados obtidos.

Estratégias de Pesquisa Bibliográfica para Anestesiologistas

A quantidade de nova informação disponível para médicos está a crescer a uma taxa exponencial, contudo, a quantidade de tempo que os médicos podem dedicar a fazer a sua triagem é que não. Saber qual a ferramenta a usar para cada tipo de informação e estratégias para a usar com eficácia pode economizar tempo valioso. O objetivo deste artigo é dar a conhecer os principais recursos de informação e as técnicas de pesquisa mais sofisticadas. Porque conhecendo as técnicas de pesquisa mais “elaboradas”, a eficácia na investigação aumentará. Os recursos listados permitem que a procura e publicação de informação em Medicina se acelerem e simplifiquem radicalmente. É importante que reconheçam as oportunidades e limitações dos recursos mencionados, assim como a sua utilidade. É impossível ser exaustivo nesta abordagem.

Opiniões sobre a visita de enfermagem em unidades de cirurgia: tradução, adaptação e validação de questionários

Enquadramento: Apesar da visita de enfermagem ou passagem de turno junto dos doentes garantir a continuidade dos cuidados de enfermagem, origina diversas questões éticas. Objetivos: Traduzir, adaptar e validar 2 questionários de colheita de dados sobre a visita de enfermagem em unidades cirúrgicas para a cultura portuguesa; identificar a opinião dos doentes e dos enfermeiros sobre a visita de enfermagem. Metodologia: Tradução, retroversão e adaptação dos questionários aplicados em 7 unidades cirúrgicas de um hospital central em Portugal de 22/08/2008 a 28/06/2009. A amostragem não probabilística acidental foi constituída por 137 enfermeiros e 96 doentes. Resultados: A visita de enfermagem promove a relação empática e de ajuda; a observação do doente e o planeamento de cuidados, no entanto é necessário clarificar o seu objetivo; incentivar à participação e ao envolvimento dos doentes; utilizar um discurso compreensível e garantir a privacidade da informação. Conclusão: Os questionários revelaram-se fidedignos e válidos na identificação das opiniões dos doentes e dos enfermeiros sobre a visita de enfermagem nas unidades de cirurgia em estudo.