Expresividad variable de una mutación fundadora en el gen EIF2AK4 en pacientes con enfermedad venooclusiva pulmonar hereditaria. Impacto en la supervivencia

Introduction and objectives

Hereditary pulmonary veno-occlusive disease (PVOD) has been associated with biallelic mutations in EIF2AK4 with the recent discovery of a founder mutation in Iberian Romani patients with familial PVOD. The aims of this study were phenotypical characterization and survival analysis of Iberian Romani patients with familial PVOD carrying the founder p.Pro1115Leu mutation in EIF2AK4, according to their tolerance to pulmonary vasodilators (PVD). Familial genetic screening was conducted, as well as assessment of sociocultural determinants with a potential influence on disease course.

Estimación de la prevalencia de infección diagnosticada y no diagnosticada por el virus de la hepatitis C en Navarra, 2014-2016

Objective

To estimate the prevalence of hepatitis C virus (HCV) infection in Navarra, Spain, as well as to distinguish between diagnosed and undiagnosed infections.

Mechanism-Specific Antiarrhythmic Effects of the Potassium Channel Activator Levcromakalim Against Repolarization-Dependent Tachycardias

Mechanism-Specific Action of Levcromakalim. Introduction: The hypothesis that levcromakalim. a potassium channel (I_K-ATP.) activator with antihypertensive properties, has a mechanism-specific antiarrhythmic action against repolarization-dependent ventricular tachycardias (VTs) was tested in dogs. Methods and Results: A low dose of leveromakalim (0.01 mg/kg) was selected, which decreased blood pressure by 25% but had almost no electrophysiologic effect on AV nodal or ventricular conduction or effective refractory period. In dogs with chronic AV block, the antiarrhythmic action of this dose of levcromakalim was evaluated in three models of abnormal impulse formation: (I) dsotalol (2 mg/kg) induced torsades de pointes VT, initiated by early afterdepolarizations (EADs). (2) sustained ouabain-induced VTs, which are dependent on delayed after depolarizations (DADs), and (3) VT occurring 24 hours after left anterior descending coronary artery occlusion, which are likely based on abnormal automaticity. Levcromakalim abolished d-sotalol induced U waves, ventricular ectopic beats, and self-terminating bouts of torsades de pointes. Induction of torsades de pointes by pacing was also completely prevented. The cycle length of the idioventricular rhythm, which was lengthened after d-sotalol from 1490 ± 515 to 1700 ± 610 msec (P < 0.05), remained similar after levcromakalim (1655 ± 580 msec). The QT(U) duration, which was increased after d-sotalol from 410 ± 55 to 550 ± 40 msec (P < 0.05), normalized to 405 ± 70 msec (P < 0.05). Lcvcromakulim did not suppress but rather enhanced ouabain-induced VT by decreasing the cycle length slightly from 315 ± 35 to 290 ± 35 msec (P < 0.05). Pretreatment with a beta Mocker prevented this acceleration in rate. Finally, levcromakalim had no effect on VT 24 hours after infarction. Conclusion: A low dose of levcromakalim has specific antiarrhythmic properties against repolarization-dependent arrhythmias, but it does not affect VTs based on other mechanisms of abnormal impulse formation.     

Prognosis of Patients With Severe Aortic Stenosis After the Decision to Perform an Intervention

Introduction and objectives

Current therapeutic options for severe aortic stenosis (AS) include transcatheter aortic valve implantation (TAVI) and surgical aortic valve replacement (SAVR). Our aim was to describe the prognosis of patients with severe AS after the decision to perform an intervention, to study the variables influencing their prognosis, and to describe the determinants of waiting time > 2 months.

Estudio de coste-beneficio comparando la reparación de la hernia ventral abierta y laparoscópica

Objective

Laparoscopic surgery is a successful treatment option offering significant advantages to patients compared with open ventral hernia repair. A cost-benefit analysis was performed to compare the clinical results and economic costs of the open and laparoscopic techniques for anterior abdominal wall hernia repair, in order to determine the more efficient procedure.

Material and methods

We performed a prospective study of 140 patients with primary and incisional hernia, and analyzed clinical data, morbidity, costs of surgery and hospital stay costs.

Results

The cost of disposable surgical supplies was higher with laparoscopic repair but reduced the average length of stay (P < .001) and patient morbidity (P < .001). The total cost of the laparoscopic procedure was, therefore, less than initially estimated, yielding a savings of 1,260 € per patient (2,865 € vs. 4,125 €).

Conclusions

Laparoscopic ventral hernia repair is associated with a reduced complication rate, a lower average length of stay and with lower total costs. Laparoscopic repair can save 1.260 € for each patient, and so this procedure should be considered a cost-effective approach.     

Evolución del cierre de ileostomía en una unidad de cirugía colorrectal. Análisis comparativo según la técnica

Introduction

The objective of this study is to assess whether the results of loop ileostomy closure in terms of morbidity and hospital stay are influenced by the type of anastomosis and suture used.

Method

All patients who underwent loop ileostomy closure were reviewed. A retrospective cohort study comparing morbidity and hospital stay according to the type of anastomosis (TT/LL) and the type of suture (hand sewn/mechanical) was performed.

Results

From January 2003 to November 2011 a total of 167 loop ileostomy closures were analized. The groups were: type of anastomosis (TT 95/LL 72) and type of suture (manual 105/stapled 62). In 76% of the observed population the underlying disease was cancer. Mortality occurred in one case. The stratified morbidity analysis by type of complications showed no significant differences between the groups in terms of local (7.4% TT, LL 8.3%, 6.7% hand sewn, stapled 9.7%), general (TT 9.5%, 16.7% LL, hand sewn 6.7%, 6.5% stapled) and surgical (TT 15.8%, 19.4% LL, hand sewn 17.1%, 17.7% stapled) complications, nor in the rate of reoperations (TT 6.3%, 6.9% LL, hand sewn 6.7%, 6.5% stapled) and hospital stay in days (TT 7.8, 8 LL, hand sewn 8.6, stapled 6.7)

Conclusions

Closure of loop ileostomy can be performed regardless of the type of suture or anastomosis used, with the same rate of morbidity and hospital stay.     

Elegir a la cirugía como especialidad: Opiniones de los estudiantes de la Universidad de Buenos Aires sobre la cirugía y los cirujanos

Introduction

Since the number of applicants to residencies in general surgery in Argentina seems to be decreasing, we designed this work with the objective of studying the factors considered undesirable by students when choosing surgery as a specialty.

Material and methods

Between March and April 2012, one-hundred students were surveyed with a structured questionnaire with true/false binary answers in an observational case-control design. The survey contained 26 statements that made reference to characteristics of surgery as a specialty, or about the personality and lifestyle of surgeons, as they could be perceived by students. As a control group the same survey was applied to 20 surgeons who were in contact with the students and that could represent a role model for them during their rotation in surgery.

Results

Comparison between students and surgeons showed no difference in most answers, except in «surgery has poor reimbursement» (OR: 8,9; P=.0001), «there is not enough job demand» (OR: 8,1; P=.015), «surgery restrains intellectual development» (OR: 17,5; P=.014), «surgeons have too many non-scheduled activities» (OR: 9,36; P=.024), «they have a limited patient-physician relationship» (OR: 3,61; P=.009), «they have little time for family» (OR: 4,27; P=.036) and «they are exposed to infectious diseases» (OR: 5,90; P=.007).

Conclusions

Women would be as interested as men in working as surgeons; a remarkable fact when considering that the surgical specialties have been predominantly filled by men. The fact that surgeons mostly coincide with the views of students means that role models should be reviewed to promote vocations.     

Post-surgical vestibular schwannoma remnant tumors: What to do?

BackgroundVestibular schwannomas (VS) are benign tumors of the vestibular nerve's myelin sheath. The current trend in VS surgery is to preserve at the facial function, even if it means leaving a small vestibular schwannoma tumor remnant (VSTR) after the surgery. There is no defined therapeutic management VSTR. The aim of this study was to assess the evolution of the VSTR to define the best therapeutic management and identify predictive factors of VSTR progression.MethodsAmong the 256 patients treated surgically for VS in the Department of Neurosurgery at Angers University Hospital, 33 patients with a post-surgical VSTR were included in this retrospective study. For all surgical patients, the data collected were age at diagnosis, the Koos classification, the surgical access, the existence of a type 2 neurofibromatosis (NF2), the TR location and size on control MRI-scans. Patients had a bi-annual follow-up with clinical status and VSTR size assessment with MRI-scan. Survival analyzes were performed to determine the time and rate of VSTR progression, and identify factors of progression.ResultsThe mean follow-up of the population was 51 months. All VS remnant progression occurred between 38 and 58 months after surgery. In non-NF2 patients with first follow-up MRI-scan three months after surgery, 43% presented a spontaneous regression, 50% a stability and 7% a progression of the VSTR. In the same population with the 1-year MR-scan after surgery as baseline, 25% presented a spontaneous regression, 62.5% a stability and 12.5% a VSTR progression. These data are consistent with the data reported in the literature. The post-operative facial function impairment and an initial remnant ≥ 1.5 cm³ were found to be significant risk factors of VS remnant progression in non-NF2 population in univariate analysis (P = 0.048 and 0.031) but not in multivariate analysis.ConclusionIn our experience, the best therapeutic management of the post-surgical VSTP in non-NF2 patients with no risk factor of progression is a simple clinical radiological follow-up otherwise complementary radiosurgery should be considered.