α1-antitrypsin deficiency in fraternal twins born with familial spontaneous pneumothorax

We report a case of spontaneous familial pneumothorax in fraternal twin boys. The twins' family history is remarkable for reactive airway disease and a female sibling also born with spontaneous pneumothorax. The family had no history of connective tissue disorders, renal cancer, or dermatologic diseases. Analysis of the twins' α(1)-antitrypsin (AAT) genotype, phenotype, and serum concentration revealed that both were compound heterozygous for rare SERPINA1 alleles. These findings suggest a role for AAT deficiency in spontaneous pneumothorax of the newborn. To our knowledge, these are the first genetic data to support etiology of neonatal spontaneous familial pneumothorax.     

Comparison of safety and efficacy of bivalirudin versus unfractionated heparin in high-risk patients undergoing percutaneous coronary intervention (from the Anti-Thrombotic Strategy for Reduction of Myocardial Damage During Angioplasty-Bivalirudin vs Heparin study)

Bivalirudin, a direct thrombin inhibitor, is as effective as unfractionated heparin (UFH), with decreased bleeding in patients with acute coronary syndromes who undergo percutaneous coronary intervention (PCI). The aim of this study was to evaluate the effectiveness of bivalirudin versus UFH in selected PCI patients at high bleeding risk. Four hundred one consecutive patients who underwent PCI fulfilling ≥ 1 enrollment criterion (age >75 years, chronic renal failure, and diabetes mellitus) were randomized to bivalirudin (bolus 0.75 mg/kg followed by infusion during the procedure; n = 198) or UFH (75 IU/kg; n = 203). In the overall population, 39% were aged >75 years, 22% had renal failure, 63% had diabetes, and 29% had acute coronary syndromes. The primary efficacy end point was the 30-day incidence of major adverse cardiac events (cardiac death, myocardial infarction, stent thrombosis, or target vessel revascularization). The primary safety end point was the occurrence of any bleeding or entry-site complications after PCI. All patients were preloaded with clopidogrel 600 mg. Glycoprotein IIb/IIIa inhibitors were used at the operators' discretion. Thirty-day major adverse cardiac event rates were 11.1% in the bivalirudin group and 8.9% in the UFH group (p = 0.56); the primary efficacy end point was reached mainly because of periprocedural myocardial infarction; 1 patient in the bivalirudin group had stent thrombosis. Occurrence of the primary safety end point was 1.5% in the bivalirudin group and 9.9% in the UFH group (p = 0.0001); this benefit was essentially driven by the prevention of entry-site hematomas >10 cm (0.5% vs 6.9%, p = 0.002). In conclusion, Anti-Thrombotic Strategy for Reduction of Myocardial Damage During Angioplasty-Bivalirudin vs Heparin (ARMYDA-7 BIVALVE) indicates that bivalirudin, compared with UFH, causes significantly lower bleeding and has a similar incidence of major adverse cardiac events in patients with older age, diabetes mellitus, or chronic renal failure who undergo PCI.     

Cardiotrophin-1 is not associated with carotid or coronary disease and is inversely associated with obesity in patients undergoing coronary angiography

Introduction

Cardiotrophin-1 (CT-1) is a member of the interleukin-6 superfamily with known hypertrophic and protective actions upon cardiac myocytes. Although its effects on myocardial tissue and its role in hypertensive heart disease are well documented, there are no studies on CT-1 blood levels in patients with coronary artery disease. In this study we aimed to verify the relationships of serum CT-1 with vascular disease and metabolic parameters in a population of patients undergoing coronary angiography due to clinical indications.

Material and methods

Serum levels of CT-1 were investigated in a cohort of 81 consecutive patients (median age 68 years (95% CI: 64–71), 59 males) undergoing coronary angiography and carotid Doppler ultrasound. Exclusion criteria were: acute coronary syndrome, already-established ischemic cardiopathy, chronic inflammatory diseases and presence or past history of cancer.

Results

Levels of CT-1 were inversely correlated with body mass index (BMI) and waist circumference (WC) (ρ = –0.261, p = 0.02; ρ = –0.224, p = 0.05, respectively). Moreover, obese patients showed significantly lower CT-1 concentrations than non-obese ones (1.18 (0.64–1.64) ng/ml vs. 1.56 (1.37–2.04) ng/ml, p = 0.013), and serum CT-1 was significantly reduced in patients with elevated compared to those with normal WC (1.43 (0.94–1.60) ng/ml vs. 1.64 (1.39–2.49) ng/ml, p = 0.047). Concentrations of CT-1 did not correlate either with the other parameters of metabolic syndrome or with markers of cardiovascular disease (carotid intima-media thickness, presence of carotid or coronary artery plaques).

Conclusions

Our results failed to demonstrate any association between CT-1 and carotid or coronary disease. The inverse association with BMI and WC fits with the latest experimental data on the role of CT-1 in dysmetabolic conditions and could help to further clarify the role of CT-1 in obesity and diabetes.     

Laparoscopic Total Fundoplication for Gastroesophageal Reflux Disease. How I Do It

Introduction

A laparoscopic fundoplication is considered today the procedure of choice for the treatment of gastroesophageal reflux disease (GERD).

Discussion

Several eponyms are used in the literature to denote different antireflux operations: Nissen, Nissen-Rossetti, Toupet, Lind, Guarner, Hill, and Dor. We feel that it is more important to focus on the technical elements which make a fundoplication effective and long lasting. The type of fundoplication (total vs. partial) is tailored to the quality of esophageal peristalsis as documented by the preoperative manometry. In the USA, a partial fundoplication is chosen only for patients with very impaired or absent esophageal peristalsis.

Conclusion

This article describes the technique of laparoscopic total fundoplication for GERD. Partial fundoplication is performed following the same technical elements as the total fundoplication. A 240° to 270° wrap rather than a 360° wrap is performed.     

Predictors of Unsuccessful Laparoscopic Resection of Gastric Submucosal Neoplasms

Background

While laparoscopy has become integral to the performance of foregut surgery, its optimal use in resection of gastric submucosal neoplasms, including gastrointestinal stromal tumors (GISTs), remains uncertain. Concern exists for technical feasibility related to tumor size and location, as well as oncologic outcome.

Methods

From 2002 to 2012, 106 patients underwent resection for gastric submucosal neoplasms, comprising 79 laparoscopic and 27 open resections. Median follow-up was 15 months.

Results

Patients were 62?±?14 years and 56 % male. Mean tumor size was 5.5?±?4.3 cm, with 76 % being GISTs. A total of 8 (10 %) conversions occurred in the laparoscopic cohort. On multivariate analysis, conversion was predicted by size greater than 8 cm, while recurrence was predicted by mitotic index (p?<?0.05). Laparoscopic resection resulted in better perioperative outcomes, with less morbidity, operative time, blood loss, and length of stay (p?<?0.05). No significant difference was seen in survival, with 90 % and 81 % alive 3 years after laparoscopic and open resection, respectively (HR 0.4; 95 % CI 0.1–1.3; p?=?0.13).

Conclusions

Laparoscopic resection is feasible and effective in the management of gastric submucosal neoplasms, including GISTs. Caution should be reserved for tumors greater than 8 cm. Oncologic outcome appears to be predicted by tumor biology as opposed to surgical approach.