Pre- and postoperative assessment of left ventricular function by magnetic resonance imaging and 2-D-echocardiography in patients undergoing left ventricular aneurysmectomy

BACKGROUND: Left ventricular (LV) aneurysms may complicate myocardial infarctions. Reliable quantification of LV functional parameters is mandatory to predict clinical outcome in patients undergoing LV aneurysmectomy. We compared global LV function measured by magnetic resonance (MR) and 2-D-echocardiography in patients before and after aneurysmectomy. METHODS: 31 patients (23 male), mean age 64 (range 35 - 85) years with an LV aneurysm (25/31 anterior MI, 5/31 inferior MI, 1/31 both) were enrolled. MR and echocardiography were performed directly before and 3 - 65 (median 8) days after surgery. MR studies were performed on a 1.5 Tesla scanner. End-diastolic and end-systolic volumes and diameters (EDV/ESV, EDD/ESD), ejection fraction (EF) and stroke volume (SV) were determined. Echocardiography was performed to determine EF, EDD and ESD. NYHA class was assessed before and 3 months after surgery. RESULTS: After aneurysmectomy MR analysis showed a decrease in EDV (255 +/- 68 ml to 202 +/- 59 ml) ( p < 0.001) and ESV (186 +/- 71 ml to 134 +/- 53 ml; p < 0.001); EF increased (28 +/- 10 % to 35 +/- 12 %; p < 0.001); EDD/ESD decreased ( p < 0.01). Compared to echocardiography, a low correlation was found in EF before/after surgery r = 0.76/r = 0.69 and ESD r = 0.43/r = 0.60, respectively. In EDD a good correlation was found before surgery (r = 0.81), and a lower correlation after surgery (r = 0.72). NYHA class improved from 3.0 +/- 0.5 before to 1.8 +/- 0.8 after operation ( p < 0.001). CONCLUSION: Resection of an LV aneurysm results in a mean improvement of 25 % in LV function, and improved clinical outcome. In asymmetric ventricles with aneurysms MR proved to be superior as a sensitive and non-invasive tool compared to conventional 2-D-echocardiography.     

Monogenic lupus due to DNASE1L3 deficiency in a pediatric patient with urticarial rash,hypocomplementemia, pulmonary hemorrhage,and immune-complex glomerulonephritis

Systemic lupus erythematosus (SLE) is a multisystem autoimmune disease and usually involves the skin, musculoskeletal system, and kidneys. More than 30 genes have been to monogenic lupus, so far. Monogenic lupus is often characterized by an early-onset, similar family history, and syndromic appearance. Herein we present a pediatric patient with DNASE1L3 deficiency, suffering from both urticarial skin lesions, recurrent hemoptysis, and renal involvement, eventually diagnosed as this rare monogenic lupus.The patient suffered from recurrent urticarial rash and hemoptysis since the age of 15 months of age. He had microscopic hematuria, mild proteinuria, hypocomplementemia, and positive antinuclear antibody, anti-dsDNA, and antineutrophil cytoplasmic antibodies. Renal biopsy yielded immunocomplex glomerulonephritis. Due to early-onset, similar sibling history and consanguineous parents, we suspected monogenic lupus and performed whole-exome sequencing, which further revealed a homozygous T97Ifs*2 mutation (NM_004944.4: c.290_291delCA/p.Thr97Ilefs*2) in DNASE1L3 gene.In conclusion, DNASE1L3 deficiency should be thought when juvenile SLE occurs with early disease-onset, pulmonary hemorrhage, glomerulonephritis, and recurrent urticarial rash along with ANCA positivity.     

The comparison of ProSeal and I-gel laryngeal mask airways in anesthetized adult patients under controlled ventilation

Objectives:

To compare the insertion time, ease of device insertion, ease of gastric tube insertion, airway leakage pressure, and complications between the laryngeal mask airway (LMA) ProSeal (P-LMA) and I-gel (I-gel) groups.

Methods:

Eighty patients with age range 18-65 years who underwent elective surgery were included in the study. The study took place in the operation rooms of Haydarpaşa Numune Hospital, Istanbul, Turkey from November 2013 to April 2014. Patients were equally randomized into 2 groups; the I-gel group, and the P-LMA group. In both groups, the same specialist inserted the supraglottic airway devices. The insertion time of the devices, difficulty during insertion, difficulty during gastric tube insertion, coverage of airway pressure, and complications were recorded.

Results:

The mean insertion time in the I-gel group was significantly lower than that of the P-LMA group (I-gel: 8±3; P-LMA: 13±5 s). The insertion success rate was higher in the I-gel group (100%, first attempt) than in the P-LMA group (82.5%, first attempt). The gastric tube placement success rate was higher in the I-gel group (92.5%, first attempt) than in the P-LMA group (72.5%, first attempt). The airway leakage pressures were similar.

Conclusion:

Insertion was easier, insertion time was lower, and nasogastric tube insertion success was higher with the I-gel application, and is, therefore, the preferred LMA.Laryngeal mask airways (LMA) represent a good alternative to endotracheal intubation in suitable cases. The LMAs are used to provide ventilation, or to ease the insertion of an endotracheal tube (TT) in difficult airways, but they are also becoming more frequently used to reduce TT associated complications.1 In particular, the recently developed models of LMAs, which include a gastric tube, have become more commonly preferred in anesthesia applications.2 The I-gel (I-gel) (Intersurgical Ltd, Workingham, UK) has a latex-free, non-inflatable, gel-like, thermoplastic elastomeric cuff that provides easy coverage by properly fitting the anatomy of the supraglottic region and also involves a gastric tube; therefore, it has become more frequently used in patients under general anesthesia and receiving positive pressure ventilation.3 It has been reported that the single-use, inflatable cuff-free I-gel can be inserted more easily and has a reduced morbidity rate.4,5 It is recommended in emergency cases requiring intubation, and particularly in airway management of cases experiencing cardiopulmonary arrest.6 Another supraglottic airway device that enables gastric aspiration is the LMA ProSeal (Laryngeal Mask Company Ltd, Berkshire, UK). Since it is a semi-rigid device with an inflatable cuff, it has been reported to cause mucosa and nerve damage in the supraglottic region, sore throat, and hoarseness due to the cuff pressure.7The present study aimed to compare the I-gel and the LMA ProSeal (P-LMA) with respect to the duration of insertion, ease of insertion, airway pressure leakage, gastric tube insertion success ratio, and complications.     

A new silent germline mutation of the TSH receptor: coexpression in a hyperthyroid family member with a second activating somatic mutation.

BACKGROUND: Up to date, three thyroid-stimulating hormone receptor (TSHR) germline variants have been reported for which no functional consequences have been detected by in vitro characterizations. However, familial nonautoimmune hyperthyroidism and hot nodules are clearly associated with constitutively activating TSHR germline mutations. We describe a family with a new TSHR germline mutation that is associated with euthyroidism in 13 family members and hyperthyroidism in 1 family member. METHODS: Mutation analysis of the TSHR gene was performed by denaturing gradient gel electrophoresis. TSHR constructs were characterized by determination of cell surface expression, 3'-5'-cyclic adenosine monophosphate (cAMP) accumulation, and constitutive cAMP activity. RESULTS: A novel TSHR germline mutation (N372T) was found in a man who presented with thyrotoxicosis. The mutation was also detected in 13 family members, all of whom were euthyroid. Interestingly, an additional constitutively active somatic mutation (S281N) was identified on the second parental TSHR allele of the hyperthyroid index patient. Linear regression analysis showed a lack of constitutive activity for N372T. Moreover, coexpression studies of N372T with S281N did not reveal any evidence for a functional influence of N372T on the constitutively active mutation (CAM). CONCLUSIONS: N372T is unlikely to cause altered thyroid function. This is consistent with the finding that only the index patient with the additional somatic mutation S281N was hyperthyroid.     

Evaluation and comparison of the marginal adaptation of two different substructure materials

PURPOSE

In this study, we aimed to evaluate the amount of marginal gap with two different substructure materials using identical margin preparations.

MATERIALS AND METHODS

Twenty stainless steel models with a chamfer were prepared with a CNC device. Marginal gap measurements of the galvano copings on these stainless steel models and Co-Cr copings obtained by a laser-sintering method were made with a stereomicroscope device before and after the cementation process and surface properties were evaluated by scanning electron microscopy (SEM). A dependent t-test was used to compare the mean of the two groups for normally distributed data, and two-way variance analysis was used for more than two data sets. Pearson''s correlation analysis was also performed to assess relationships between variables.

RESULTS

According to the results obtained, the marginal gap in the galvano copings before cementation was measured as, on average, 24.47 ± 5.82 µm before and 35.11 ± 6.52 µm after cementation; in the laser-sintered Co-Cr structure, it was, on average, 60.45 ± 8.87 µm before and 69.33 ± 9.03 µm after cementation. A highly significant difference (P<.001) was found in marginal gap measurements of galvano copings and a significant difference (P<.05) was found in marginal gap measurements of the laser-sintered Co-Cr copings. According to the SEM examination, surface properties of laser sintered Co-Cr copings showed rougher structure than galvano copings. The galvano copings showed a very smooth surface.

CONCLUSION

Marginal gaps values of both groups before and after cementation were within the clinically acceptable level. The smallest marginal gaps occurred with the use of galvano copings.