PURPOSE: Evaluate short results after fundoplication procedure, concerning the division of short gastric vessels. METHODS: A prospective randomization of 90 patients with indication for hiatoplasty and total fundoplication with fundus mobilization was performed. They were divided into two groups: no SGV division (group A, n= 46) and with SGV division (Group B, n=44), although in both groups the gastric fundus was mobilized to perform a floppy valve. Early outcome with clinical follow up (1 year) was observed. RESULTS: Both groups were similar regarding preoperative parameters and severity of gastroesophageal reflux disease (GERD). No difference in morbidity was observed during hospital stay. Nevertheless, the median operating time was 80,2 minutes in group A and 94,1 minutes (p=0,021) in Group B. Transitory dysphagia during the first year was significantly lower in group B (46,6% versus 23,2%, p=0,012). However, in 12 months clinical outcome was similar in both groups (clinical symptoms of GERD, persistent dysphagia and reoperations). CONCLUSION: There was no improvement in routine division of SGV in total fundoplication procedure when the gastric fundus was mobilized.

The maximum dose to the LAD was as high as 53 Gy, suggesting an increased risk of cardiac morbidity. This study underscores the value of contouring the LAD and the value of the breath hold technique to reduce maximum cardiac doses. Smaller CT cuts (2.5 mm) can improve contouring. Larger studies with long-term follow up are needed to determine the radiation tolerance dose for the LAD.

Nonsyndromic Cleft Lip and/or Palate (NSCLP) is regarded as a multifactorial condition in which clefting is an isolated phenotype, distinguished from the largely monogenic, syndromic forms which include clefts among a spectrum of phenotypes. Nonsyndromic clefting has been shown to arise through complex interactions between genetic and environmental factors. However, there is increasing evidence that the broad NSCLP classification may include a proportion of cases showing familial patterns of inheritance and contain highly penetrant deleterious variation in specific genes. Through exome sequencing of multi-case families ascertained in Bogota, Colombia, we identify 28 non-synonymous single nucleotide variants that are considered damaging by at least one predictive score. We discuss the functional impact of candidate variants identified. In one family we find a coding variant in the MSX1 gene which is predicted damaging by multiple scores. This variant is in exon 2, a highly conserved region of the gene. Previous sequencing has suggested that mutations in MSX1 may account for ~2% of NSCLP. Our analysis further supports evidence that a proportion of NSCLP cases arise through monogenic coding mutations, though further work is required to unravel the complex interplay of genetics and environment involved in facial clefting.

Individuals from three families ascertained in Bogota, Colombia, showing syndromic phenotypes, including cleft lip and/or palate, were exome-sequenced. In each case, sequencing revealed the underlying causal variation confirming or establishing diagnoses. The findings include very rare and novel variants providing insights into genotype and phenotype relationships. These include the molecular diagnosis of an individual with Nager syndrome and a family exhibiting an atypical incontinentia pigmenti phenotype with a missense mutation in IKBKG. IKBKG mutations are typically associated with preterm male death, but this variant is associated with survival for 8-15 days. The third family exhibits unusual phenotypic features and the proband received a provisional diagnosis of Pierre Robin sequence (PRS). Affected individuals share a novel deleterious mutation in IRF6. Mutations in IRF6 cause Van der Woude and popliteal pterygium syndrome and contribute to nonsyndromic cleft lip phenotypes but have not previously been associated with a PRS phenotype. Exome sequencing followed by in silico screening to identify candidate causal variant(s), and functional assay in some cases offers a powerful route to establishing molecular diagnoses. This approach is invaluable for conditions showing phenotypic and/or genetic heterogeneity including cleft lip and/or palate phenotypes where many underlying causal genes have not been identified.

There is controversy in the literature regarding the motor function behavior of the lower esophageal sphincter and esophagus following partial gastrectomy. We studied 26 patients with gastric adenocarcinoma of the distal corpus and/or antrum who underwent radical subtotal gastrectomy with Roux-en-Y reconstruction. There were 15 women (57.69%) and 11 men (42.31%) with a mean age of 57.2 years; 21 were White (80.8%) and five were of African descent (19.2%). Before the surgery and 3 months afterwards, every patient underwent manometric and endoscopic examinations. The lower esophageal sphincter showed reductions in mean respiratory pressure (19.41-15.59 mmHg, P= 0.02) and maximum expiratory pressure (8.13-5.54 mmHg, P= 0.02) without significant alteration in diaphragmatic crura pressure (32.92-30.64 mmHg, P= 0.37). An increase in peristaltic wave amplitude (91.43-124.86 mmHg, P < 0.01) and peristaltic wave conduction velocity (3.29 cm/s to 4.23 cm/s; P= 0.024) were detected in esophageal function. The presence of erosive esophagitis decreased from 10 (38.46%) patients to none (P= 0.002). We concluded that following surgery the lower esophageal sphincter function was impaired, through decreased pressure in the esophageal component without alteration in diaphragmatic crura pressure. On the other hand, there was significant increase in peristaltic wave amplitude and velocity, and improvement of the erosive esophagitis. The authors suggest that subtotal gastrectomy, with gastroesophageal junction preservation, and Roux-en-Y reconstruction should be the preferred operation for distal gastric cancer to minimize esophageal dysfunction and gastroesophageal reflux disease.

Introduction: Rare diseases are characterized by their low prevalence, often of genetic origin, degenerative and life threatening. Objective: To describe mortality by orphan diseases and to analyze its trends in Colombia from 2008 to 2013. Materials and methods: We conducted a descriptive study to analyze mortality rate trends from the death certificates between 2008 and 2013. We calculated specific mortality rates and adjusted by age and sex. Results: Seven thousand one hundred and thirty five deaths were attributed to orphan diseases, and 51.4 % of them occurred among men of all ages. The mean mortality rate during the study period was 2.53 deaths per 100,000 people. Overall, the trend showed an increasing pattern of mortality although very heterogeneous across the country. Mortality rates were higher in Bogotá (20), and the Andes and the Caribbean regions (5.3 and 3.7 deaths per 100,000 population). The five most important causes of mortality among men were: acute lymphoblastic leukemia, muscular dystrophy, bronchopulmonary dysplasia originating in the perinatal period, multiple sclerosis, Guillain-Barré syndrome and gastroschisis, and among women: multiple sclerosis, acute lymphoblastic leukemia, gastroschisis, bronchopulmonary dysplasia originating in the perinatal period, Guillain-Barré syndrome and acute myeloid leukemia. The mean mortality rate by acute lymphoblastic leukemia was 0.17 deaths per 100,000 men younger than 15 years and that of multiple sclerosis was 0.16 in women over 40 years of age. Conclusion: The causes of death showed a similar pattern in both sexes. However, the burden of mortality was higher among men of all ages in Bogota.

Objective: To describe the population of patients with cleft lip and/or palate (CL/P) in terms of cleft phenotypes, gender, age, ethnic group, family history, clinical presentation (syndromic vs nonsyndromic), some environmental and behavioral factors, and some clinical features. Design: Descriptive retrospective study. Setting: Patients attending the genetics counseling practice in Operation Smile Foundation, Bogotá, Colombia, for over 8 years. Participants: No screening was conducted. All patients requiring clinical genetics assessment in Operation Smile Foundation were included in the study. Results: Left cleft lip and palate (CLP) and nonsyndromic forms were the most frequent types of malformations in this population. Psychomotor retardation and heart disease were the most frequent comorbidities in these patients. A low proportion of mothers exposed to passive smoking during pregnancy was observed and low birth weight accounted for an important number of cases. Aarskog, velocardiofacial, and orofaciodigital syndromes were the most frequent syndromic forms of CLP in this population. Conclusions: In this study, the most frequent type of CL/P was the nonsyndromic complete left CLP. Aarskog, velocardiofacial, and orofaciodigital syndromes were the most frequent syndromic forms of CL/P in this population.

Up to 30% of subjects undergoing Nissen fundoplication develop dyspeptic symptoms. Previous studies using the water load test have shown that functional dyspepsia patients have a diminished drinking capacity due to increased visceral sensitivity. Here we investigate drinking capacity and severity of symptoms in 9 patients with dyspeptic symptoms after fundoplication, 9 patients without symptoms after surgery, 18 functional dyspepsia patients, and 18 controls. The water load test was performed by having subjects drinking room-temperature tap water at a predetermined rate of 15 ml/min. The presence and severity of symptoms during the test were evaluated every 5 min using a Likert scale. We found that patients with dyspeptic symptoms after fundoplication had a significantly lower drinking capacity and higher symptoms scores than controls (P<0.05) but values similar to those of functional dyspepsia patients (P>0.05). In contrast, drinking capacity in patients without symptoms after surgery was similar to that in controls (P>0.05). These findings suggest that, as in functional dyspepsia, severe dyspeptic symptoms after Nissen fundoplication are associated with an impaired drinking capacity, reflecting visceral hypersensitivity or impaired gastric accommodation or both.