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.     

Lack of association of hepatic estrogen receptor-alpha expression with histopathological and biochemical findings in chronic hepatitis C

Estrogens exert a protective effect against hepatic steatosis and fibrosis. Loss of estrogen receptor-alpha (ER-α) in the liver is associated with hepatic steatosis and inflammation in animal models. We conducted a study in order to investigate the presence and extent of ER-α expression in HCV infection, and its relationship with histological and biochemical findings. Ninety biopsy-proven chronic hepatitis C (CHC) patients were enrolled in the study. Liver biopsy specimens were immunohistochemically stained for ER-α expression. Nuclear ER-α expression percentage was calculated. ER-α was positive in 69 of the patients (76%). ER-α positive and negative groups were not significantly different in terms of age, gender, necroinflammatory activity, fibrosis, steatosis, serum levels of AST, ALT, ALP, GGT, and bilirubin. ER-α expression percentage was not correlated with fibrosis, steatosis, necroinflammatory activity and biochemical findings. Although estrogens are known to be protective against fibrosis and steatosis in animal models, we did not find any significant correlation between ER-α expression and histopathological and biochemical findings in CHC patients. These findings should be verified in further large scale studies.     

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.     

Optic disc and retinal nerve fiber layer parameters as indicators of neurodegenerative brain changes in patients with obstructive sleep apnea syndrome

Purpose

Retina is a unique part of the central nervous system (CNS) for visualizing the processes of axonal and neuronal degeneration. Optical coherence tomography (OCT) allows direct visualization and measurement of retinal nerve fiber layer (RNFL) thickness, macular volume, and optic disc (OD) parameters. One of the disorders associated with atrophy in different brain regions is obstructive sleep apnea syndrome (OSAS). In the present study, we aimed to determine OD and RNFL changes measured by OCT for investigating the progress of neurodegeneration development in OSAS, excluding all the other conditions that can directly affect RNFL thickness and optic nerve parameters.

Methods

Both eyes of 101 patients with OSAS and 20 controls were investigated by OCT. Full-night polysomnography (PSG) and ophthalmologic examination including automated visual field (VF) examination and OCT were performed in all of the patients.

Results

According to the OSAS grading, patients were grouped as mild (n?=?15), moderate (n?=?27), and severe (n?=?59). We found significant decrease in RNFL thickness only in the patients with severe OSAS compared with the other groups and decreased macular ganglion cell thickness in the severe OSAS group compared with the control group. VF parameters were significantly worsened in all the OSAS subgroups compared to the control group. We found different data such as normal or increased optic nerve parameters as result of subtle OD edema, which may mask possible peripapillar axonal loss.

Conclusions

We think that evaluation of neurodegeneration in OSAS is not always possible by examining OD and RNFL because there are difficulties due to the confounding issues of cerebral atrophy and OD edema.