High Prevalence of a c.5979dupA Variant in the Dysferlin Gene (DYSF) in Individuals from a Semiarid Region of Brazil.

Background: Dysferlinopathies represent a group of limb girdle or distal muscular dystrophies with an autosomal-recessive inheritance pattern resulting from the presence of pathogenic variants in the dysferlin gene (DYSF). Objective: In this work, we describe a population from a small city in Brazil carrying the c.5979dupA pathogenic variant of DYSF responsible for limb girdle muscular dystrophy type 2R and distal muscular dystrophy. Methods: Genotyping analyses were performed by qPCR using customized probe complementary to the region with the duplication under analysis in the DYSF. Results: A total of 104 individuals were examined. c.5979dupA was identified in 48 (46.15%) individuals. Twenty-three (22%) were homozygotes, among whom 13 (56.5%) were female. A total of 91.3% (21) of homozygous individuals had a positive family history, and seven (30.4%) reported consanguineous marriages. Twenty-five (24%) individuals were heterozygous (25.8±16 years) for the same variant, among whom 15 (60%) were female. The mean CK level was 697 IU for homozygotes, 140.5 IU for heterozygotes and 176 IU for wild-type homo-zygotes. The weakness distribution pattern showed 17.3% of individuals with a proximal pattern, 13% with a distal pattern and 69.6% with a mixed pattern. Fatigue was present in 15 homozygotes and one heterozygote. Conclusion: The high prevalence of this variant in individuals from this small community can be explained by a possible founder effect associated with historical, geographical and cultural aspects.

Effect of biometric variables on two-dimensional echocardiographic measurements in the red-tailed boa (Boa constrictor constrictor).

The effects of body biometrics on cardiac measurements and description of cardiac anatomy were performed in red-tailed boas (Boa constrictor constrictor) (n = 29) using real-time B-mode ultrasonography. Statistical comparison of measured cardiac metrics according to sex and body measurements demonstrated no significant difference between sexes but a highly significant linear increase between body length and mass and all cardiac metrics.

Uniportal vs. multiportal thoracoscopic segmentectomy: a north American study.

Background: Uniportal video-assisted thoracoscopic surgery (VATS) segmentectomy is gaining worldwide acceptance, but experience in North America is still limited. We report a North American multicenter comparison of uniportal vs. multiportal VATS segmentectomy. Methods: We performed an institutional review board-exempt retrospective chart review on prospectively collected databases at two North American centers, from January 2012 to December 2020. We included all VATS segmentectomy patients and excluded emergent cases (n=1), patients with incomplete records (n=2), and segmentectomy performed in conjunction with another type of lung resection (n=1). We recorded patient demographics, perioperative data, 30-day postoperative complications and compared outcomes between cohorts. We provided descriptive statistics for each group. We calculated propensity score matching and paired patients 1:1. We defined P values less than 0.05 as statistically significant. Results: We performed a total of 423 VATS segmentectomies, 181 uniportal (42.7%) vs. 242 multiportal (57.2%). Indications for surgery were primary lung cancer (n=339), metastatic (n=41), benign disease (n=40), and other (n=3). We staged 85.1% of patients preoperatively with positron emission tomography-computed tomography (PET-CT) scan according to National Comprehensive Cancer Network (NCCN) guidelines. Propensity score matching generated 156 patients on each group. Operating time was significantly lower in the uniportal group compared to multiportal (130 vs. 161 min respectively, P<0.001). We found no difference in estimated blood loss, Clavien-Dindo class III-IV complications, conversion to thoracotomy, R0 resection rate, nodal upstaging, hospital length of stay, 30-day readmission or mortality. Conclusions: Our experience from two North American centers indicates that, in experienced hands, postoperative outcomes after uniportal and multiportal VATS segmentectomy are comparable.

Esophageal stenting and radiotherapy: a multimodal approach for the palliation of symptomatic malignant dysphagia.

BACKGROUND: Esophageal stents provide immediate palliation of malignant dysphagia; however, radiotherapy (RT) is a superior long-term option. We review the outcomes of combined esophageal stenting and RT for patients with malignant dysphagia. METHODS: We retrospectively reviewed patients with esophageal stents placed for palliation of malignant dysphagia from esophageal stricture, esophageal extrinsic compression, or malignant tracheoesophageal fistula (TEF). We excluded patients with radiation-induced TEF in the absence of tumor. We analyzed and compared outcomes between patients with no RT, RT before stent placement, and RT after stent placement. RESULTS: We placed stents in 45 patients for esophageal stricture from esophageal cancer (n = 30; 66.7 %), malignant TEF (n = 8; 17.7 %), and esophageal compression from airway, mediastinal, or metastatic malignancies (n = 7; 15.6 %). Twenty patients (44.4 %) had no RT; 25 patients had RT before stent placement (n = 16; 35.6 %), RT after stent placement (n = 8; 17.8 %), or both (n = 1; 2.2 %). Median follow-up was 30 days. Complications requiring stent revision were similar with or without RT. Subjective symptom relief was achieved in 68.9 % of all patients, with no differences noted between groups (p = 0.99). The 30-day mortality was 15.6 %. Patients with RT after stent placement had a longer median survival compared to those without RT (98 vs. 38 days). CONCLUSIONS: Esophageal stent placement with RT is a safe approach for malignant dysphagia.

T1/T2 non-small-cell lung cancer treated by lobectomy: does tumor anatomic location matter?

BACKGROUND: The effect of tumor location on long-term survival after lobectomy for stage I non-small-cell lung cancer is unclear. Current data are limited to a retrospective single-institution series. We sought to determine if tumor anatomic location (i.e., the particular lobe that was involved) confers a survival advantage based on population-based data. METHODS: Using the Surveillance, Epidemiology and End Results database (1988-2007), we identified patients who underwent lobectomy for pathologic T1/T2 adenocarcinoma or squamous cell carcinomas. Wedge resections, segmentectomies, and pneumonectomies were excluded. We evaluated the association between the particular lobe that was involved, lymph node (LN) yield, and survival using the Kaplan-Meier method. To adjust for potential confounders, we used a Cox proportional hazards regression model. RESULTS: We identified 13,650 patients who met our inclusion criteria. There were significant differences in unadjusted overall (P=0.03) and cancer-specific survivals (P=0.03) based on tumor location. However, after adjusting for patient factors, geographic location of treatment, and tumor characteristics, we found that tumor location was not associated with significant differences in survival. We found that male gender, black race, squamous cell histology, increasing grade, and age were independent negative predictors of survival. Higher LN yields were independently associated with improved survival. Although adjusted survival rates were not significantly different, there were significant differences (P<0.0001) in LN yield based on tumor location; right middle lobe had the lowest yield (5.1 nodes), and left upper lobe had the highest yield (eight nodes). CONCLUSIONS: LN counts are independent predictors of survival. Although it is associated with significant difference in LN yield, tumor location is not an independent predictor of survival. Age, race, gender, tumor size, histology, and grade appear to be more important prognostic factors. These data suggest that treatment of T1/T2 non-small-cell lung cancer should be dictated by the same oncologic principles, regardless of tumor location.

Nonsupercharged Retrosternal Roux-en-Y Esophagojejunostomy for Distal Esophageal Reconstruction.

BACKGROUND: Delayed distal esophageal reconstruction with nonsupercharged jejunum is an option when gastric conduit is not available. This study aimed to describe a single-center experience with distal esophageal reconstruction with retrosternal Roux-en-Y esophagojejunostomy (RYEJ) and compare perioperative outcomes with retrosternal gastric pull-up (GP). METHODS: An Institutional Review Board-exempt retrospective chart review was conducted of patients who underwent esophagostomy closure by the retrosternal route at the University of Minnesota Medical Center (Minneapolis, MN) from January 2009 to July 2019. Patients with colonic conduits were excluded. The study compared patients with RYEJ with a contemporary cohort of patients who underwent GP. The anatomic criteria for RYEJ were the absence of a gastric conduit and an esophageal remnant that reached the sternomanubrial joint. Patient characteristics, anastomotic leak and stricture rate, postoperative complications, hospital length of stay, 30-day readmission, and 90-day mortality were recorded. Statistical analysis was performed using the Fisher exact test and the Wilcoxon rank-sum test with a significance level at P ≤.05. RESULTS: A total of 9 patients underwent RYEJ, and 10 patients had GP. Previous esophageal adenocarcinoma was more common in the RYEJ group (n = 5) compared with the GP group (n = 0) (P = .01). Patient demographics and comorbidities were comparable between the groups. No differences were found in all end points, including operating time, estimated blood loss, anastomotic leak or stricture rate, Clavien-Dindo class III to IV complications, hospital length of stay, or mortality. CONCLUSIONS: Retrosternal RYEJ without microvascular augmentation is a safe alternative for esophagostomy closure in patients with adequate esophageal length when the stomach is not available. The nonsupercharged jejunum can safely reach the level of the sternomanubrial joint.

The long-term impact of surgical complications after resection of stage I nonsmall cell lung cancer: a population-based survival analysis.

OBJECTIVE: Surgical morbidity may influence long-term cancer survival. Because resection of early stage nonsmall cell lung cancer (NSCLC) is primary therapy, we sought to determine the survival impact of surgical complications for elderly patients undergoing resection of stage I NSCLC. METHODS: Using the linked Surveillance Epidemiology and End Results-Medicare database (2000-2005), we identified elderly patients who underwent lobectomy for stage I NSCLC. We then assessed the unadjusted association between in-hospital, postoperative complications, and long-term survival for patients who survived more than 30 days after resection using the Kaplan-Meier method. Finally, we used Cox proportional hazards regression to evaluate the relationship between postoperative complications and 5-year cancer-specific (CSS) and overall survival (OS) after adjusting for patient, tumor, and treatment characteristics. RESULTS: We identified 3996 eligible patients. The overall in-hospital, postoperative complication rate was 54.2%. Pulmonary complications were the most common (n = 1464) followed by cardiac (n = 916). Unadjusted 5-year CSS was significantly worse for those who had an in-hospital, postoperative complication (70.9%) compared to those who did not (78.9%, P < 0.001). OS was also significantly worse (P < 0.001) for patients who developed a complication. Complications continued to predict worse 5-year CSS and OS after adjusting for patient, tumor, and treatment characteristics (HR: 1.38, 95% CI, 1.17-1.64). CONCLUSIONS: The occurrence of in-hospital postoperative complications was an independent predictor of worse 5-year CSS after resection of stage I NSCLC. Importantly, the impact of surgical complications extends well after the initial perioperative period. These findings may help identify important targets for best practice guidelines and quality-of-care measures.

Long-Term Results of Diaphragmatic Hernia Repair After Left Ventricular Assist Device Explantation.

BACKGROUND: Diaphragmatic hernias after explantation of a left ventricular assist device (LVAD) at the time of heart transplantation are uncommon, but they can cause morbidity. This study presents midterm to long-term results of diaphragmatic hernia repair in these patients. METHODS: A retrospective chart review was performed on a prospectively collected database of all patients who underwent sequential LVAD explantation and heart transplantation at the University of Minnesota (Minneapolis, MN) since 1995. All patients who had a diaphragmatic hernia were included in the study. Patients' demographics, perioperative morbidity, and long-term results were recorded. RESULTS: From January 1995 to June 2018, 712 LVADs were placed, and subsequently 293 hearts were transplanted. The incidence of diaphragmatic hernia after heart transplantation was 7.1% (n = 21), with a median time from transplantation to diagnosis of 23 months (interquartile range [IQR], 9 to 39 months). Four patients did not undergo operative repair, and 1 patient was excluded for insufficient data. Sixteen patients underwent diaphragmatic hernia repair (male, 13; female, 3). Thirteen patients underwent laparoscopic repair with mesh, and 3 patients had open repair. Two patients presented with strangulated hernias requiring laparotomy and bowel resection. Median follow-up time was 53 months (IQR, 12 to 141 months) for the entire cohort. One recurrence was noted (6.2%), in a patient with laparoscopic repair. CONCLUSIONS: Diaphragmatic hernia repair after sequential LVAD explantation and orthotopic heart transplantation is feasible and appears to be safe. When this hernia is diagnosed, patients should be referred for surgical evaluation.

Small bowel obstruction and internal hernias during pregnancy after gastric bypass surgery.

Small bowel obstruction (SBO) is a recognized complication of Roux-en-Y gastric bypass (RYGB) surgery. Internal hernia (IH) a potential problem associated with RYGB, can have severe consequences if not diagnosed. We present two cases of SBO due to IH during pregnancy after laparoscopic RYGB (LRYGB). Both patients underwent an antecolic, antegastric LRYGB. In both patients a Petersen's type IH was found. We reviewed the cases reported in the literature of SBO during pregnancy after RYGB. IH should always be ruled out in pregnant patients with previous RYGB and abdominal pain. Prompt surgical intervention is mandatory for a good outcome.

Diaphragmatic eventration.

Symptomatic diaphragmatic eventration is an uncommon condition and is sometimes impossible to distinguish clinically from paralysis. Patients who are asymptomatic require no treatment; patients who are symptomatic benefit significantly from diaphragm plication. The choice of plication approach is dependent upon the expertise of the surgeon.

Endobronchial ultrasound-guided transbronchial fine-needle aspiration: the University of Minnesota experience, with emphasis on usefulness, adequacy assessment, and diagnostic difficulties.

Endobronchial ultrasound-guided transbronchial fine-needle aspiration (EBUS-TBNA) is a new technique that facilitates cytologic sampling of mediastinal lymph nodes. We describe our initial experience with this method, including adequacy assessment, impact on cytopathologists' work, and diagnostic pitfalls. There were 229 EBUS-TBNA samples obtained from 100 patients; a mean of 22 minutes was spent with an average of 3 passes performed and 6 slides prepared per site. Of 193 aspirates, 5 were categorized as atypical, 54 as positive, and 134 as negative for malignancy; 36 (15.7%) aspirates were nondiagnostic. We found EBUS-TBNA to have a high specificity (100%) and good sensitivity (86%) in our institution, in which a cytopathologist is available on-site to ensure sample adequacy. Most true-negative samples had moderate to abundant lymphocytes, confirming lymphocyte numbers as a marker of adequacy. For pathologists, this was a relatively time-consuming procedure. Recognizing bronchial contamination, especially with metaplastic or dysplastic cells, is important for avoiding diagnostic pitfalls.

Endobronchial ultrasound-guided transbronchial needle aspiration for mediastinal lymph node staging in non-small cell lung cancer.

Mediastinoscopy is the gold standard for mediastinal lymph node (MLN) staging for non-small cell lung cancer patients; however, mediastinoscopy is invasive and allows access to a limited number of American Thoracic Society MLN stations (1, 2, 3, 4, and 7). Endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) is emerging as a useful, less invasive staging technique that offers access to a wider range of MLN stations (2, 3, 4, 7, 10, and 11). Although EBUS-TBNA has excellent sensitivity and diagnostic accuracy, an alternative MLN biopsy technique (i.e., mediastinoscopy or thoracoscopy) is required to confirm negative cytology findings, especially after induction therapy. Additionally, an experienced cytopathologist is critical to establishing an effective EBUS-TBNA program.

Thoracoscopic lingulectomy for invasive pulmonary aspergillosis.

Invasive pulmonary aspergillosis (IPA) is associated with a high mortality rate in immunocompromised patients. Surgery has a therapeutic role for selected patients when the main objective is to achieve infection control with minimal lung resection. Large or deep-seated lesions may require an anatomic resection such as segmentectomy, lobectomy, or pneumonectomy. Thoracoscopic lobectomy has been described as a treatment of localized IPA; however, thoracoscopic anatomic segmentectomy has not been reported until now. Herein, we describe a case of thoracoscopic lingulectomy for localized IPA in an immunocompromised patient: this operation minimized the delay in resuming therapy for the patient's underlying acute myeloid leukemia. Video-assisted thoracoscopic segmentectomy can be safely performed for localized IPA.

Evolution of clipping for thoracoscopic sympathectomy in symptomatic hyperhidrosis.

BACKGROUND: Severe hyperhidrosis is treated by thoracic sympathetic chain interrupting through chain transection or clipping. Our study compared the efficacy of these 2 methods. METHODS: Retrospectively, patients who underwent thoracoscopic sympathectomy from 1999 to 2005 had demographic, operative, and postoperative data analyzed. RESULTS: Fifty-four operations were performed for refractory sweating of the palm (72%), axilla (66%), foot (53%), and head/neck (19%). Thirty-seven (69%) underwent clipping; 17 (31%) underwent chain transection. There was no difference in age, sex, or blood loss. One ganglion level was interrupted in 24.1% and 2 levels in 75.4%. Bothersome compensatory hyperhidrosis occurred in 13% (5-clipping and 2-transection). One patient underwent clip removal for debilitating symptoms. Three small pneumothoraces occurred (all in the transection group); all treated expectantly. CONCLUSIONS: Thoracoscopic sympathectomy is a safe outpatient procedure. Both methods yield excellent results with minimal compensatory hyperhidrosis. Thoracoscopic sympathetic chain clipping and transection are equivalent.

Best Approach and Benefit of Plication for Paralyzed Diaphragm.

Diaphragmatic eventration and diaphragmatic paralysis are 2 entities with different etiology and pathology, and are often clinically indistinguishable. When symptomatic, their treatment is the same, with the objective to reduce the dysfunctional cephalad excursion of the diaphragm during inspiration. This can be achieved with diaphragmatic plication through the thorax or the abdomen with either open or minimally invasive techniques. We prefer the laparoscopic approach, due to its easy access to the diaphragm and to avoid pain associated with intercostal incisions and instrument use. Short-term and long-term results are excellent with this technique.

Hemoptysis Due to Anterior Scoliosis Implants: A Case Report.

CASE: A twenty-five-year-old man presented with recurrent episodes of hemoptysis requiring hospitalization and interventional embolization. Instrumentation that had been implanted ten years previously for anterior spinal correction and fusion to treat adolescent idiopathic scoliosis adjoined the medial border of the right lung. The instrumentation eroded the lung during respiration, which prompted the formation of adhesions and fibrosis. Because of the risk of additional hemoptysis events, we performed revision thoracotomy, removal of the spinal instrumentation, and partial lobectomy. CONCLUSION: This rare and serious complication underscores the importance of meticulous surgical technique to ensure proper implant placement and of vigilant monitoring for late iatrogenic injury.

Intrabronchial Valve Treatment for Prolonged Air Leak: Can We Justify the Cost?

Background. Prolonged air leak is defined as an ongoing air leak for more than 5 days. Intrabronchial valve (IBV) treatment is approved for the treatment of air leaks. Objective. To analyze our experience with IBV and valuate its cost-effectiveness. Methods. Retrospective analysis of IBV from June 2013 to October 2014. We analyzed direct costs based on hospital and operating room charges. We used average costs in US dollars for the analysis not individual patient data. Results. We treated 13 patients (9 M/4 F), median age of 60 years (38 to 90). Median time from diagnosis to IBV placement was 9.8 days, time from IBV placement to chest tube removal was 3 days, and time from IBV placement to hospital discharge was 4 days. Average room and board costs were $14,605 including all levels of care. IBV cost is $2750 per valve. The average number of valves used was 4. Total cost of procedure, valves, and hospital stay until discharge was $13,900. Conclusion. In our limited experience, the use of IBV to treat prolonged air leaks is safe and appears cost-effective. In pure financial terms, the cost seems justified for any air leak predicted to last greater than 8 days.

Pulmonary Neuroendocrine Tumors: Part II. Treatment.

Pulmonary neuroendocrine tumors that arise from Kulchitzky cells of the bronchial mucosa consist of a spectrum of histologic features leading to a variable prognosis. Although typical carcinoid represents the most benign course, small-cell cancer has the grimmest outcome. Therefore, differentiating the spectrum of neuroendocrine tumors helps one not only to determine the prognosis, but also to guide the treatment options. In this part, we aim to discuss the treatment options in pulmonary neuroendocrine tumors except for small-cell lung cancer.

Pulmonary Neuroendocrine Tumors: Part I. Spectrum and Characteristics of Tumors.

Pulmonary neuroendocrine tumors arise from Kulchitzky cells of the bronchial mucosa and include typical carcinoid, atypical carcinoid, large cell neuroendocrine carcinoma, and small cell lung cancer. These tumors have a variable growth rate that determines their presentation and prognosis. Typical carcinoid has the lowest growth rate and better prognosis; in contrast, small cell lung cancer is an aggressive tumor with a very poor prognosis. Although there are some overlapping histologic features between these tumors, clinical, imaging, and immunohistochemical markers are useful in the differentiation of pulmonary neuroendocrine tumors. The treatment options differ on the basis of histologic characteristics. In this article, we aim to describe the spectrum of neuroendocrine tumors of the lung, except for small cell lung cancer, and their clinical, pathologic, and imaging findings, with a focus on treatment options.