Study of the PVRL1 gene in Italian nonsyndromic cleft lip patients with or without cleft palate.

Nonsyndromic cleft lip with or without cleft palate (CL/P) is a complex genetic trait and little is known about its aetiology. Recent investigations on rare clefting syndromes provided interesting clues about genes involved in face development. The PVRL1 gene encodes nectin1, a cell-to-cell adhesion molecule. Mutations in its sequence have been shown to cause the rare autosomal recessive syndrome CL/P-ectodermal dysplasia syndrome (CLPED1), while heterozygosity for the mutation W185X seemed to increase the risk of non syndromic CL/P in a population from northern Venezuela. In the present study, we screened 143 Italian CL/P patients for mutations in PVRL1. Three rare sequence variants in exon 3 that create amino-acid changes were detected in a total of 7 patients. Two of these mutations were not found in a panel of 292 unaffected controls, while the third was found in two controls. This study describes new mutations that may represent genetic risk factors for CL/P. Even though a study to look at the effects of the mutations on nectin1 function was not feasible, supporting evidence was reported, thus confirming the involvement of PVRL1 in the aetiology of non-syndromic CL/P malformation.

Maternal MTHFR variant forms increase the risk in offspring of isolated nonsyndromic cleft lip with or without cleft palate.

The pathogenesis of cleft lip with or without cleft palate (CL/P) is complex; its onset could be due to the interaction of various genetic and environmental factors. Recently MTHFR functional polymorphisms were found to increase the risk of this common malformation; however, this finding is still debated. We investigated 110 sporadic CL/P patients, their parents and 289 unrelated controls for c.665C>T (commonly known as 677C>T; p.Ala222Val) and c.1286A>C (known as 1298A>C; p.Glu429Ala) polymorphism in the MTHFR gene. Transmission disequilibrium test (TDT) showed no distortion in allele transmission. Nevertheless, association studies revealed significant differences in allele frequencies between mothers of CL/P patients and controls. This work supports the hypothesis that a lower MTHFR enzyme activity in pregnant women, mostly related to the c.665C>T variant form, is responsible for a higher risk of having CL/P affected offspring.

Recent advances in the placement of tubes for enteral nutrition.

Enteral nutrition is the preferred route for nutritional support compared with parenteral nutrition if the gastrointestinal tract is functionally preserved. Long-standing nasogastric or nasoenteric feeding tubes are not well tolerated. Alternative routes are gastrostomy and jejunostomy. Percutaneous endoscopic gastrostomy/jejunostomy or those guided by fluoroscopy, sonography or tomography should be the first choices. Laparoscopy or laparotomy gastrostomy/jejunostomy routes should be reserved for specific situations. Insufflation of the stomach with air or saline solution facilitates the placement of nasoenteric feeding tubes or percutaneous sonographic-guided gastrostomy. The gastrostomy button is a safe and aesthetic alternative, at least in children. Comparison between percutaneous endoscopic gastrostomy and surgical gastrostomy performed either via laparotomy or laparoscopy favours the first in terms of costs and risks. Whenever associated intra-abdominal procedures or anatomic difficulties arise, a laparoscopic or an open access becomes necessary. Complications with feeding tubes are not uncommon and should be promptly recognized and treated.

Twenty-four-hour ambulatory electrocardiographic monitoring of surgeons.

The objective of the present study was to study the heart rate, presence of arrhythmia, and changes in the ST segment of surgeons with 24-hour ambulatory electrocardiographic monitoring. Eleven surgeons of several specialties were evaluated. All surgeons had one to three operations on the day of the recording. Heart rate, presence of arrhythmia, and changes in the ST segment were determined during the following surgeons' activities: operation, sleeping, car driving, patient appointment, and eating. There was a difference in the mean heart rate among the activities (p = 0.0004). The lowest mean heart rate was registered during sleeping and the highest during operation. Two surgeons had arrhythmias: one had premature ventricular contractions (0.6% of total ventricular contractions) and the other rare premature atrial contractions (0.05% of total atrial contractions) in addition to isolated premature ventricular contractions (< 0.1% of total ventricular contractions). There was no significant difference in frequency of arrhythmia during the activities (p = 0.7150). One patient had periods of inverted T waves. It is concluded that the heart rate of surgeons increases significantly during surgery and that the occurrence of cardiac arrhythmias is not increased in surgeons with no cardiovascular disease during surgery.

Pulmonary function after cholecystectomy performed through Kocher's incision, a mini-incision, and laparoscopy.

Comparative pulmonary function after cholecystectomy performed through Kocher's incision, a mini-incision, and laparoscopy was evaluated. Forty-five patients were randomly and prospectively divided into three groups of 15 each, depending on the surgical access employed. Forced vital capacity (FVC), forced expiratory volume at 1 second (FEV1), and forced expiratory flow at 25% to 75% (FEF25-75%) were determined 1 to 3 days before and 16 to 24 hours after cholecystectomy. The percent reduction of FVC (p = 0.0170), FEV1 (p = 0.0191), and FEF25-75% (p = 0.0045) was smaller after laparoscopic cholecystectomy than after Kocher's incision cholecystectomy. The percent reduction of FVC (p = 0.0170) was smaller after mini-incision cholecystectomy than after Kocher's incision cholecystectomy. There was no difference in the FEV1 (p = 0.0971) or FEF25-75% (p = 0.2058) between these two groups. FEF25-75% was significantly less impaired in the laparoscopic group than in the mini-incision group (p = 0.0327). No difference between these two groups was found in FVC (p = 0.5755) or FEV1 (p = 0.3952). It is concluded that postoperative pulmonary function is less impaired after laparoscopic cholecystectomy than after either mini-incision or Kocher's incision cholecystectomy.

Intragastric microflora study in patients with gastroduodenal disease

O conteudo normal de bacterias no estomago e menor que 10ü/ml de suco gastrico. A ausencia de bacterias na cavidade gastrica, muito frequente, e principalmente devida a secrecao acida e a motilidade do orgao. Varias situacoes podem comprometer esses mecanismos de defesa e levar a colonizacao bacteriana, com alta incidencia de complicacoes infecciosas pos-operatorias. Para avaliar a alteracao da microflora gastrica, estudaram-se 25 pacientes, 19 com doenca gastroduodenal e seis controles, divididos em quatro grupos distintos, de acordo com a afeccao de base. Dos portadores de doenca gastroduodenal, 18 (94,73 por cento) apresentaram cultura positiva para aerobios e seis (3,57 por cento), para anaerobios. Cinco pacientes (26,31 por cento) tiveram cultura positiva para Candida sp e cinco outros para S. fecalis. A principal contagem bacteriologica foi de 1,2x10 elevado a seis CFU/ml de suco gastrico, e de 1,4x10 elevado a um CFU/ml de suco gastrico, para anaerobios. As bacterias mais comumente isoladas foram E. coli, Enterobacter sp e Staphylococcus epidermidis.

Electromyographic evaluation of the gastrointestinal tract in patients with chronic Roux-en-Y limb.

Recently, a Roux-en-Y stasis syndrome was described in a few patients after gastric operations. Although the clinical long term results are usually good, the motility of Roux-en-Y biliary limb has not been evaluated yet. In the present study, we report electromyographic studies of the gastrointestinal tract of two patients with chronic Roux-en-Y hepaticojejunostomy. These two patients provided a unique opportunity to evaluate the electromyographic activity of chronic Roux-en-Y limb in humans after one to five years. Seven pairs of bipolar extracellular electrodes were implanted in the antrum, duodenum, proximal part of the jejunum (15 centimeters proximal to the jejunojejunostomy), distal part of the jejunum (15 centimeters distal to the jejunojejunostomy), ileum, proximal Roux-en-Y limb and distal Roux-en-Y limb. All four phases of the migrating motor complex (MMC) were identified in the antrum and small intestine, including the Roux-en-Y limb, almost simultaneously to phase III in the duodenum. In the other two recordings (25 per cent), there was no relationship between phase III in the Roux-en-Y limb and that in the duodenum. Ingestion of food caused substitution of the MMC by the fed activity pattern in all recordings in the antrum and small intestine, including the Roux-en-Y limb. The findings of the present study indicate that the electromyographic activity of the Roux-en-Y limb may remain normal during fasting and fed states even many years after its creation.

Evaluation of preoperative hospitalization duration in skin flora.

The skin microbial flora of 18 patients was evaluated during prolonged preoperative hospital stay. Five cultures for bacteria and fungi were obtained on different days: on admission one, three and seven days after admission and after skin disinfection with povidone-iodine solution. There was no change in the mean bacterial count from the admission day to seven days after admission. All but one culture obtained following skin disinfection were negative. Pathogenic bacteria were isolated in only one of each of the following culture day: admission, three and seven days after admission. All cultures were negative for yeasts. The findings suggest that the higher rate of wound sepsis observed in patients with long preoperative hospitalization may not be due to bacterial flora change.

Leiomiomas do trato digestivo. / Leiomyomas of the digestive tract

Sao apresentados 16 casos de leiomiomas do trato digestivo, sendo oito no esofago, quatro no estomago, dois no intestino delgado, um no colon e um no apendice cecal.Sao tumores raros e que apresentam caracteristicas especiais quanto as manifestacoes clinicas, variaveis de acordo com o orgao afetado e frequentemente na dependencia de complicacoes. Na presente serie houve seis casos de hemorragia digestiva e dois de suboclusao intestinal. Em dois o diagnostico foi ocasional e em dois havia tumor palpavel. Nos demais, o diagnostico foi orientado pela clinica de disfagia. Os metodos complementares mais uteis no diagnostico sao radiologia, endoscopia, e angiografia, na dependencia da porcao do trato digestivo afetada. Dos 16 casos de estomago foram realizadas quatro esofagectomias e quatro resseccoes extramucosas.Nos quatro casos de localizacao no estomago, em dois foi realizada gastrectomia e em dois resseccao foi local

Diverticulo esofagiano. / Esophageal diverticula

Sao apresentados 20 casos de diverticulos esofagianos tratados pela Disciplina de Cirurgia do Aparelho Digestivo do Hospital de Clinicas da Universidade Federal do Parana, durante o periodo de 1977 a 1982.Dezessete pacientes tiveram diverticulo faringoesofagiano e tres, diverticulo epifrenico. Do grupo de doentes com diverticulo faringoesofagiano, um foi a obito por pneumonia aspirativa antes de receber tratamento cirurgico curativo; dezesseis doentes foram submetidos a resseccao primaria do diverticulo. De tres pacientes com diverticulo epifrenico, dois tiveram resseccao primaria acompanhada de procedimento anti-refluxo e o ultimo foi submetido a invaginacao do diverticulo acompanhada de um procedimento anti-refluxo. A morbidade operatoria foi baixa e nao foram observados morte operatoria ou recidiva

Cancer do coto gastrico. / Cancer of the gastric stump

Os autores apresentam 12 pacientes portadores de cancer do coto gastrico no periodo compreendido entre 1951 e 1980.Analisam sua incidencia frente a literatura e admitem ser o cancer do coto gastrico duas a tres vezes mais frequente no estomago operado. Seus resultados mostram somente quatro doentes submetidos a cirurgia radical.A maior parte deles foi submetida a tratamento paliativo e o uso de protese endoluminar foi o metodo preferencial. Contudo, somente em tres pacientes ele por ser usado. Ao final, tecem algumas recomendacoes no sentido de proteger os pacientes gastrectomizados dessa eventualidade