Lack of Association between PTPN22 Gene +1858 C>T Polymorphism and Susceptibility to Generalized Vitiligo in a Turkish Population

Background

Vitiligo is an autoimmune polygenic disorder characterized by loss of pigmentation due to melanocyte destruction. The PTPN22 gene +1858 C>T single nucleotide polymorphism (rs2476601) has been shown to be associated with various autoimmune disorders.

Objective

The aim of this study was to investigate whether the PTPN22 gene +1858 C>T single nucleotide polymorphism is associated with susceptibility to generalized vitiligo in a Turkish population.

Methods

One hundred and seven patients with generalized vitiligo, and one hundred and twelve gender-, age-, and ethnic-matched controls were enrolled in the study. Genotyping was done by polymerase chain reaction-restriction fragment length polymorphism.

Results

The PTPN22 +1858 C>T genotype and allele frequencies of the generalized vitiligo patients did not differ significantly from those of healthy controls.

Conclusion

We found no association between the PTPN22 +1858 C>T gene polymorphism and vitiligo susceptibility in Turkish generalized-vitiligo patients.     

Use of shear wave elastography to differentiate benign and malignant breast lesions

PURPOSE

We aimed to determine the correlations between the elasticity values of solid breast masses and histopathological findings to define cutoff elasticity values differentiating malignant from benign lesions.

MATERIALS and METHODS

A total of 115 solid breast lesions of 109 consecutive patients were evaluated prospectively using shear wave elastography (SWE). Two orthogonal elastographic images of each lesion were obtained. Minimum, mean, and maximum elasticity values were calculated in regions of interest placed over the stiffest areas on the two images; we also calculated mass/fat elasticity ratios. Correlation of elastographic measurements with histopathological results were studied.

RESULTS

Eighty-three benign and thirty-two malignant lesions were histopathologically diagnosed. The minimum, mean, and maximum elasticity values, and the mass/fat elasticity ratios of malignant lesions, were significantly higher than those of benign lesions. The cutoff value was 45.7 kPa for mean elasticity (sensitivity, 96%; specificity, 95%), 54.3 kPa for maximum elasticity (sensitivity, 95%; specificity, 94%), 37.1 kPa for minimum elasticity (sensitivity, 96%; specificity, 95%), and 4.6 for the mass/fat elasticity ratio (sensitivity, 97%; specificity, 95%).

CONCLUSION

SWE yields additional valuable quantitative data to ultrasonographic examination on solid breast lesions. SWE may serve as a complementary tool for diagnosis of breast lesions. Long-term clinical studies are required to accurately select lesions requiring biopsy.Breast cancer is associated with high morbidity; ∼1.38 million new cases and 458 000 deaths occur annually worldwide (1). Breast cancer is by far the most common cancer in females of both developed and developing countries, and remains a major public health problem.Annual mammographic screening is valuable for early detection of breast cancer, reducing mortality and morbidity, particularly of patients with tumors in fatty breast tissue (2). Increase in breast tissue density over time is a serious problem; this reduces the diagnostic accuracy of breast cancer, especially in younger females (3). Thus, as the proportion of glandular breast tissue rises, other imaging methods are required (4).Gray-scale ultrasonography is a valuable adjunct to mammography and other breast imaging methods, affording highly sensitive assessment of breast masses and differentiating benign solid breast lesions from those that are malignant (5–7). However, ultrasonography is strongly subjective and poorly specific (8–10).Breast biopsy remains the gold standard for definitive diagnosis of suspicious breast lesions. Although the total number of females referred for interventional diagnostic procedures represents a small percentage of any screened population, the healthcare resources consumed by such females are disproportionately high (11). Further, the pathological result is benign in up to 75% of all cases (11–13). Therefore, a reliable, noninvasive, costeffective method helping to differentiate benign from malignant breast lesions, thus reducing the number of unnecessary interventional diagnostic procedures, would be valuable.Sonoelastography uses ultrasound to assess tissue stiffness (elasticity), which can be described using Young’s modulus: E=σ/ε, where σ is the applied stress and ε the resultant tissue deformation. Two principal sonoelastographic approaches are available; these are static (strain) and transient (vibration; shear wave) elastography. In static elastography, a transducer is used to compress tissue and the resulting strain is presented as a color map of tissue elasticity superimposed on the real-time gray-scale sonogram.Static elastography is associated with significant interobserver variability, and uses elastographic scoring (ES) or strain ratio (SR) measurement as a diagnostic parameter. Both ES and SR are subjective semi-quantitative measures (14, 15). Shear wave elastography (SWE) is a novel technique applicable to soft tissue. In SWE, transverse shear waves spreading laterally from the tissue are tracked, and the speed of propagation calculated. SWE yields real-time quantitative data and is highly reproducible compared to static elastography (16, 17). Reproducibility of the latter technique is considered to be a major problem and may compromise patient outcomes. Thus, further work on the utility of SWE is needed.In the present study we sought to correlate the SWE values of a series of solid breast masses with histopathological findings, and to determine cutoff elasticity values allowing benign and malignant tumors to be distinguished.     

Effect of crush and axotomy of phrenic nerves on oxidative stress in diaphragm muscle of rats

Introduction: In this study we investigated the effect of crush and axotomy of phrenic nerves on oxidative stress and antioxidant enzyme activities in rat diaphragm muscle. Methods: The animals in the first group were not crushed or axotomized and served as controls. Phrenic nerves of the rats in the second and third groups were crushed or axotomized in the diaphragm muscle. Results: The malondialdehyde level increased in diaphragm muscles after both crush and axotomy. The antioxidant enzymes, such as superoxide dismutase, glutathione peroxidase, carbonic anhydrase, and catalase, decreased in diaphragm muscles after both crush and axotomy. Conclusions: Crushing or axotomizing the phrenic nerves may produce oxidative stress in the diaphragm muscle of the rat by increasing lipid peroxidation and decreasing antioxidant enzyme activities. Muscle Nerve, 2012     

Trans-tympanic electric auditory brainstem response (TT-EABR): the importance of the positioning of the stimulating electrode

Trans-tympanic electric auditory brainstem response (TT-EABR) is an established pre-operative investigation in cochlear implantation surgery. Various techniques have been employed to obtain electrical responses but there has been no universal agreement on the exact positioning of the stimulating electrode on the medial wall of the mesotympanum. The authors investigate the relationship of the positioning of the electrode and the brainstem response.     

Approach to newborn priapism: a rare entity

Priapism is a rare entity with a different aetiology in newborns than in childhood and adult life. Due to its rarity, management can be challenging. The possible consequences of improper treatment make management of this condition clinically relevant. Preservation of normal erection is the major goal. Although the majority of cases are idiopathic, prolonged erection may be associated with polycythemia. As spontaneous detumescence occurs in the majority of cases, conservative non-surgical treatment is advocated initially. We report the case of a newborn presenting with priapism on the 1st day of life. Detumescence was achieved on the 4th day of life with conservative management.     

Management of hepatorenal syndrome

Hepatorenal syndrome(HRS) is defined as development of renal dysfunction in patients with chronic liver diseases due to decreased effective arterial blood volume. It is the most severe complication of cirrhosis because of its very poor prognosis. In spite of several hypotheses and research, the pathogenesis of HRS is still poorly understood. The onset of HRS is a progressive process rather than a suddenly arising phenomenon. Since there are no specific tests for HRS diagnosis, it is diagnosed by the exclusion of other causes of acute kidney injury in cirrhotic patients. There are two types of HRS with different characteristics and prognostics. Type 1 HRS is characterized by a sudden onset acute renal failure and a rapid deterioration of other organ functions. It may develop spontaneously or be due to some precipitating factors. Type 2 HRS is characterized by slow and progressive worsening of renal functions due to cirrhosis and portal hypertension and it is accompanied by refractory ascites. The only definitive treatment for both Type 1 and Type 2 HRS is liver transplantation. The most suitable bridge treatment or treatment for patients who are not eligible for transplantation is a combination of terlipressin and albumin. For the same purpose, it is possible to try hemodialysis or renal replacement therapies in the form of continuous veno-venous hemofiltration. Artificial hepatic support systems are important for patients who do not respond to medical treatment. Transjugular intrahepatic portosystemic shunt may be considered as a treatment modality for unresponsive patients to medical treatment. The main goal of clinical surveillance in a cirrhotic patient is prevention of HRS before it develops. The aim of this article is to provide an updated review about the physiopathology of HRS and its treatment.     

Reference Values for Transverse Cerebellar Diameter Throughout Gestation

The transverse cerebellar diameter (TCD) is well established in the ultrasound literature as a reliable parameter for estimating the duration of gestation. In cases of growth restriction the cerebellum is usually spared, making TCD a reliable indicator of gestational age even when other parameters fall off the appropriate growth curve. The purpose of this study is to establish normal values for the transverse diameter of the cerebellum in pathology specimens, and to determine if these values correlate with those obtained by ultrasound. We examined 96 specimens ranging from 14 to 42 weeks gestational age and found that our values correlate well with those published in the ultrasound literature. Mean TCD with 2 standard deviations for each gestational week were determined as reference values.     

Renal Dysplasia, Situs Inversus Totalis, and Multisystem Fibrosis: A New Syndrome

Renal dysplasia was associated with situs inversus totalis and multisystem fibrosis in a severely hydropic stillborn female fetus. The ureters were duplicated and showed fibrous obliteration. The pancreas, thyroid, and uterus were fibrotic, and the lungs had small and large irregular pulmonary lobules bounded by fibrotic septa. An extensive fibrous pericarditis was considered the etiology of hydrops. A similar spectrum of anomalies including bilateral renal dysplasia, situs inversus totalis, and pancreatic and hepatic fibrosis has been described in three separate reports. Our case is similar with additional findings of fibrosis of the thyroid, uterus, pulmonary septa, and pericardial tissues. We believe the presence of situs inversus totalis, renal dysplasia, and multisystem fibrosis constitutes a new syndrome.     

Continuous desferoxamine infusion by an infusor in thalassaemia major

Chelation therapy with desferrioxamine (DFO) can be an important problem for patients with thalassaemia major (TM). In an effort to find a solution to this problem, a new delivery system based on a disposable and lightweight device was developed by Baxter. The aim of study was to investigate the compliance of patients and the effects and side effects of two different infusors. The 26 patients using infusors were divided into 2 groups, who were infused with DFO for 48 h (group A) and for 120 h (group B). The 24-h mean urinary iron and zinc excretion in groups A and B were statistically significant at the beginning and end of therapy (p < 0.001). Serum ferritin levels decreased in both groups compared with control (p < 0.001). No systemic reactions were observed either during or at the end of treatment. The compliance and use of infusors were 97% in group A and 72% in group B. In conclusion, better compliance was achieved and there were fewer local complications in group A than in group B. Subcutaneous infusion of DFO with both devices may be ideal for patients who have compliance problems and cannot be treated using portable pumps. The device is new and expensive, but excellent and effective for long-term DFO infusion.