Diagnosis of Resistance to Thyroid Hormone due to a Rare Mutation in the Thyroid Hormone Receptor Beta Gene in a Patient Previously Presumed to Have Graves' Disease.

Clinicians may confuse an impaired sensitivity to thyroid hormone with hyperthyroidism and offer an inappropriate treatment. We report a diagnosis of resistance to thyroid hormone (RTH) caused by a rare mutation in the thyroid hormone receptor beta gene in a patient previously presumed to have Graves' disease. We have found only one published case of a novel point mutation, c.749T>C (p.Ile250Thr variant) associated with 50% reduction in thyroid hormone receptor binding affinity for triiodothyronine in the I250T mutant; it was found in this patient. A 66-year-old male veteran, with a history of non-ischemic cardiomyopathy and arrhythmias, was referred by a cardiologist with concerns for a possible thyrotropin (TSH) adenoma on account of elevated TSH and free thyroxine (FT4) levels. Pituitary imaging was negative. He was previously treated with radioiodine for presumptive Graves' disease in the civilian sector. Examination revealed a goiter with no nodules. Repeat TSH and FT4 levels were elevated and also free triiodothyronine (FT3) and reverse triiodothyronine. These findings and other test results were consistent with RTH, which was confirmed by genetic testing. Mutation analysis showed the patient to be heterozygous for the p.Ile250Thr variant. He later developed hypothyroidism. Resistance to thyroid hormone can be misdiagnosed as hyperthyroidism with consequent inappropriate treatment. Treatment is not needed in most RTH-beta patients. Thyroid ablation should generally be avoided. Clinicians must be cautious whenever they encounter concurrent elevation of TSH, FT4, and FT3. This RTH-beta patient has a rare I250T mutant of the thyroid hormone receptor beta gene, the second reported case in the literature.

Efficacy and safety of laparoscopic Roux-en-Y gastric bypass in symptomatic patients following fundoplication failure: a meta-analysis.

Revisional surgery may be required in a subset of patients who remain symptomatic despite undergoing laparoscopic fundoplication (LF) for gastroesophageal reflux disease (GERD). While revisional LF (RLF) is feasible in these patients, laparoscopic Roux-en-Y gastric bypass (LRYGB) may serve as an alternative, although its efficacy and safety remains unknown. This study aimed to determine the outcomes of LRYGB in symptomatic patients following failed LF for GERD. MEDLINE, EMBASE, and PubMed databases were systematically searched for studies reporting LRYGB outcomes in symptomatic adults despite undergoing LF for GERD. Postoperative symptom resolution, recurrence of heartburn and dysphagia, proton pump inhibitor (PPI) use, and body mass index (BMI) reduction were assessed to determine LRYGB efficacy. Postoperative morbidity and mortality were used to evaluate LRYGB safety. Twenty-two studies with 1523 patients were included. Pooled rates of symptom resolution, recurrence of heartburn and dysphagia, PPI use, morbidity, and mortality were 71.6% (95% CI 59.4-86.4), 15.6% (8.9-27.3), 20.7% (12.5-34.3), 29.6% (18.8-46.5), 39.5% (29.9-52.3), and 2.2% (1.2-4.0), respectively, following LRYGB. Similar rates were observed after RLF. However, BMI reduction was significantly greater after LRYGB compared with RLF (mean difference 6.1 kg/m2, 4.8-7.4; p < 0.0001). LRYGB resulted in symptom relief in a majority of patients, and proved comparable to RLF regarding symptom recurrence and PPI use. Morbidity and mortality following LRYGB also did not differ from RLF. However, LRYGB was associated with considerably greater weight loss relative to RLF. Therefore, LRYGB is efficacious and an acceptable revisional procedure in symptomatic GERD patients who have previously undergone LF.

How to do a thoracoscopic-assisted oesophagectomy with oesophagogastric anastomosis using a circular stapler.

Thoracoscopic mobilization of the oesophagus during oesophagectomy has many advantages over the traditional open approach including less blood loss, reduced pulmonary complications and shorter hospital stay. Minimally invasive intrathoracic oesophagogastric anastomosis can be technically challenging, with several different techniques described in the literature. Here, we describe a nuanced technique to perform an intracorporeal anastomosis using a circular stapler.

Early Routine Use of Upper GI Contrast Series Post Paraesophageal Hernia Repair: A Single Institution Consecutive Case Series.

INTRODUCTION: There is conflicting evidence with regard to the routine use of upper gastrointestinal contrast series in detecting early complications post paraesophageal hernia repair (PEHR). METHODS: All cases booked for a PEHR between January 2007 and September 2015 were identified using hospital records. Standard demographic, operation, and imaging data were extracted. RESULTS: We retrospectively identified 391 PEHR cases between January 2007 and September 2015. The mean age at the index operation was 66.7 years with a female predominance. The majority of index operations were elective and completed for a large paraesophageal hernia. Contrast studies were reported as normal in 70.6%, a leak in 0.3%, an obstruction in 27.9%, and early recurrence in 1.0%. Reoperation was required in 1.8% of cases. CONCLUSION: Routine upper gastrointestinal contrast studies post-PEHR changed management in 0.8% of cases and were unhelpful in determining the need for early reoperation in 57.1% of cases requiring reoperation.

A Shorter Circular Stapler Height at the Gastrojejunostomy during a Roux-En-Y Gastric Bypass Results in Less Strictures and Bleeding Complications.

The laparoscopic Roux-en-Y gastric bypass (LRYGB) is prone to a number of complications, most notably at the gastrojejunostomy (GJ) staple line. The circular stapler technique is a common method used to create the GJ anastomosis. Although recent studies have shown a decreased rate of anastomotic strictures with shorter stapler heights, the optimal circular stapler height to use remains controversial. We therefore completed a retrospective cohort study within the Alberta Provincial Bariatric Program (APBP) to compare outcomes between the 3.5 mm and 4.8 mm stapler heights. We identified 215 patients who had a LRYGB done between the years 2015 and 2017. 143 patients had the GJ constructed with a 3.5 mm circular stapler height, with the remaining 72 patients having the GJ fashioned with a 4.8 mm stapler height. The rate of anastomotic stricturing was lower in the 3.5 mm stapler group compared to the other cohort (3.5 versus 13.9%, resp., p=0.008). Likewise, the overall rate of bleeding complications was lower in the 3.5 mm stapler group compared to the 4.8 mm group (6.3 versus 15.3%, resp., p=0.04). The rate of anastomotic stricturing and postoperative bleeding is lower with the use of a 3.5 mm circular stapler compared to a 4.8 mm circular stapler when forming the GJ.

Sleeve Gastrectomy and Type 2 Diabetes Mellitus: a Systematic Review of Long-Term Outcomes.

Long-term T2DM resolution rates are not well established following the laparoscopic sleeve gastrectomy (LSG). The aim of this paper was to systematically review the evidence on the efficacy of the LSG on long-term T2DM resolution. A comprehensive electronic literature search was conducted. Included studies reported 5-year follow-up of T2DM outcomes following the LSG. Eleven studies (n = 1354) were included in the systematic review. T2DM patients (n = 402) encompassed 29.7 % of patients. Diabetes prevalence decreased post-operatively to 20.5 % at 5 years, with diabetes resolution occurring in 60.8 % of patients. Mean plasma glucose levels and haemoglobin A1c values fell from 170.3 to 112.0 mg/dL and 8.3 to 6.7 % respectively at the 5-year mark. The LSG is an effective long-term metabolic surgery for patients with T2DM.

Acute ischaemic ventricular septal defect--a formidable surgical challenge.

BACKGROUND: To evaluate our surgical results for Acute Ischaemic Ventricular Septal Defect and suggest practice guidelines. METHODS: Retrospective review of data from patient records between 1992 and 2006 for presentation, surgical approaches, morbidity and mortality, statistically analysed to derive guidelines for management. RESULTS: We had 36 patients with a mean age of 70.44(+/-6.34) years. Fourteen patients had inferior defects. Twenty-eight patients were in shock (22 on pre-operative IABP). Severe LV and RV dysfunction were present in 18 and 20 patients respectively. At surgery, 17 had infarct resection with patching while 18 had repair with infarct exclusion. Concomitant CABG was performed in 15. One patient was re-operated on for mitral valve replacement and one for recurrent VSD. Recurrent VSD was common (11 patients). Two of these patients underwent percutaneous device closure of whom one died. Prolonged ICU and hospital stay was normal. Early mortality was 52.78% (inferior defects-85.71% and anterior defects-31.82%). Inferior VSD (OR 7.7) and pre-operative shock (OR 6.7), predicted mortality. The subgroup of inferior VSD with shock had mortality equating that with medical management published in literature. CONCLUSIONS: Acute Ischaemic VSD is a grim surgical disease marked by residual shunts and high mortality. Patients with inferior defects with shock should be offered surgery only under exceptional circumstances.

Laparoscopic splenectomy and the treatment outcomes for idiopathic thrombocytopaenic purpura at North Shore Hospital.

AIM: Firstly, the demographics of laparoscopic splenectomy cases at North Shore Hospital (Takapuna, Auckland, New Zealand), the outcomes of operative technique, and perioperative complications by a single surgeon were reviewed. Secondly, analysis was performed on patients with idiopathic thrombocytopaenic purpura (ITP) with regard to platelet response and detection of preoperative predictors. METHODS: Laparoscopic splenectomy patients from 1998 to 2007 were reviewed with respect to demographics, operation and their complications. ITP outcomes, analysed separately, were categorised as complete remission for postsplenectomy platelet counts greater than 150 x 10(9)/L, partial remission as 30 - 149 x 10(9)/L and refractory as platelet counts less than 30 x 10(9)/L. The relationships between preoperative steroid, immunoglobulin transfusion and operative outcomes were analysed. RESULTS: 29 (67%) out of 43 laparoscopic splenectomies were for ITP. For ITP cases, 19 (65%) achieved complete remission and six (21%) partial remission at 3-month follow-up. Follow-up detected that two cases in each group had relapses after 3 months. Explorative data analysis suggested that a lack of preoperative transfusion may predict an approximately 80% chance of complete remission postsplenectomy. There was one conversion to an open splenectomy and no mortality with minimal complications. CONCLUSION: Cumulatively, in 86% of cases, laparoscopic splenectomy created a significant increase in platelet counts at 3-month postoperatively without any long-term morbidity. Although not strongly demonstrated, preoperative immunoglobulin transfusion may be correlated with remission.