Publisher Correction: A large intragenic deletion in the CLCN1 gene causes Hereditary Myotonia in pigs.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

A large intragenic deletion in the CLCN1 gene causes Hereditary Myotonia in pigs.

Mutations in the CLCN1 gene are the primary cause of non-dystrophic Hereditary Myotonia in several animal species. However, there are no reports of Hereditary Myotonia in pigs to date. Therefore, the objective of the present study was to characterize the clinical and molecular findings of Hereditary Myotonia in an inbred pedigree. The clinical, electromyographic, histopathological, and molecular findings were evaluated. Clinically affected pigs presented non-dystrophic recessive Hereditary Myotonia. Nucleotide sequence analysis of the entire coding region of the CLCN1 gene revealed the absence of the exons 15 and 16 in myotonic animals. Analysis of the genomic region flanking the deletion unveiled a large intragenic deletion of 4,165 nucleotides. Interestingly, non-related, non-myotonic pigs expressed transcriptional levels of an alternate transcript (i.e., X2) that was identical to the deleted X1 transcript of myotonic pigs. All myotonic pigs and their progenitors were homozygous recessive and heterozygous, respectively, for the 4,165-nucleotide deletion. This is the first study reporting Hereditary Myotonia in pigs and characterizing its clinical and molecular findings. Moreover, to the best of our knowledge, Hereditary Myotonia has never been associated with a genomic deletion in the CLCN1 gene in any other species.

Kidney Transplantation Using Gonadal Vein for Venous Anastomosis in Patients With Iliac Vein Thrombosis or Stenosis: A Series of Cases.

BACKGROUND: Kidney transplantation is the treatment of choice for patients with end-stage renal disease. The standard surgery uses the recipient's iliac vessels for vascular anastomosis. Thrombosis and/or stenosis of the iliac vein, which are possible complications of multiple vascular access points for dialysis, can be detected intraoperatively, constituting a surgical challenge. An infrequently reported option is the use of the gonadal vein. OBJECTIVES: This study aims to evaluate the outcomes of venous anastomosis in the gonadal vein in patients with iliac vein thrombosis and/or stenosis submitted to kidney transplantation. METHODS: We reviewed the records of five adult recipients with iliac vein thrombosis and/or stenosis detected intraoperatively during emergency kidney transplantation with deceased donor due to vascular access failure from February 2013 to December 2014. Antithrombotic prophylaxis was not performed. We evaluated the postoperative complications, length of stay, early graft echo-Doppler, and renal function during the first year postoperatively. RESULTS: Delayed graft function occurred in three cases. Two patients developed postoperative infection requiring antibiotics. One patient required reoperation due to post-renal biopsy complications. The mean length of stay was 31.2 days and the mean serum creatinine levels at discharge, at 6 months, and at 12 months postoperatively were 1.42 mg/dL, 0.86 mg/dL, and 0.82 mg/dL, respectively. All patients had normal ultrasonography. There were no losses of graft or deaths during follow-up. CONCLUSION: Venous anastomosis using the gonadal vein in kidney transplantation for patients with iliac vein thrombosis and/or stenosis showed good clinical and surgical results, showing this method to be a viable alternative to venous drainage in these complex patients.

Urinary Tract Infections and Surgical Site Infections due to Carbapenem-Resistant Enterobacteriaceae in Renal Transplant.

BACKGROUND: Carbapenem-resistant Enterobacteriaceae (CRE) are emerging pathogens. Recent publications have shown that renal transplant recipients are a population at risk for CRE infections. Management of these infections in this population is complex, requiring frequent use of nephrotoxic antimicrobial agents. Differentiating between urinary tract infection (UTI) and surgical site infection (SSI) in renal transplant recipients is sometimes difficult. The aim of this study was to describe CRE UTIs and SSIs in renal transplant recipients and to evaluate the impact of these infections on renal graft and patient survival. RESULTS: Between January 2010 and October 2015, a total of 428 renal transplants were performed; 25 UTIs and 9 SSIs were identified. Median time between transplantation and diagnosis of CRE infection was 26 days; 29 cases (85.29%) were considered early infections. Of the 34 CRE isolates, 100% were sensitive to amikacin and colistin. Polymyxins were the most commonly used antimicrobial agent (27 cases [79.41%]). Nephrotoxicity was found in 4 (15.38%) of 26 cases. Combination therapy was used in 19 cases (55.88%), with a cure rate of 74%; monotherapy was used in 15 cases (44.11%), with a cure rate of 86%. Among the 25 cases of UTI, the cure rate was 100%, and recurrence occurred in 4 cases (16%). Among the 9 cases of SSI, 7 (77.7%) had negative outcomes (nephrectomy or death). CONCLUSIONS: We observed that CRE UTIs had a high therapeutic success rate, low recurrence, and low mortality. However, CRE SSIs were associated with high morbidity and mortality, with high graft loss. Polymyxins and aminoglycosides, despite the risk of nephrotoxicity, had little impact on renal graft function, and are thus a safe therapeutic alternative to treat these infections.

Artery Stenosis of the Renal Graft: Experience of a Center of Northeastern Brazil.

BACKGROUND: Transplant renal artery stenosis (TRAS), the most common vascular complication after transplant (Tx), leads to resistant hypertension, impaired renal function, and even loss of the graft. The purpose of the study was to investigate the prevalence and factors associated with TRAS in northeastern Brazil. METHODS: The study was conducted as a retrospective case-control study in a population of Tx recipients in a renal Tx center in northeastern Brazil. Demographic and clinical characteristics of the recipients and donors, data related to the surgery, laboratory data, and number of anti-hypertensive drugs were assessed. Statistical analysis was performed with the use of SPSS 17.0. RESULTS: A total of 494 of 529 recipients were assessed, of which 24 had TRAS. The prevalence of TRAS was 4.8%. Twelve patients (50%) were men with a mean age of 46.7 ± 13.5 years. The mean time of diagnosis was 89.9 days after Tx. The risk factors associated with TRAS were number of anti-hypertensive drugs ≥2 (odds ratio, 17.0; confidence interval, 4.1 to 70.4; P = .001) and grafting with 2 or more arteries (odds ratio, 8.9; confidence interval, 1.4 to 56.6; P = .021). There was a significant reduction in mean systolic blood pressure (147.1 ± 23.7 to 127.8 ± 15.2 mm Hg, P = .001) and diastolic blood pressure (86.6 ± 13.0 to 77.6 ± 9.4 mm Hg, P = .001) after TRAS repair and in serum creatinine (2.8 ± 2.4 to 1.9 ± 1.8 mg/dL, P = .04). CONCLUSIONS: Grafts with 2 or more arteries are associated with TRAS, as well as patients who use a higher number of anti-hypertensive drugs. TRAS repair was associated with improved blood pressure control and renal function.

Post-transplantation weight gain: prevalence and the impact of steroid-free therapy.

INTRODUCTION: Weight gain after renal transplantation has a multifactorial etiology, which can be associated with complications such as hypertension, dyslipidemia and diabetes, with a probable impact on cardiovascular morbidity and mortality post-transplantation. OBJECTIVE: The objectives of this study were to investigate the prevalence of weight gain and obesity post-transplantation among renal recipients of a hospital and to evaluate the impact of immunosuppressive therapy without steroids. MATERIALS AND METHODS: We have evaluated all patients who had kidney transplantations performed between January 2005 and December 2009 at General Hospital of Fortaleza, who were older than 18 years of age and had at least 12 months of follow-up post-transplantation. Overweight was defined as body mass index (BMI) between 25 and 30 kg/m(2) and obesity >30 kg/m(2). The association between weight gain and the following variables was investigated: age and gender of the recipient and the donor, donor type, steroid use, presence of systemic arterial hypertension (SAH) and diabetes mellitus, creatinine, glucose, cholesterol, and triglycerides. RESULTS: The study population included 203 recipients; 59.5% were males, their mean age systemic arterial hypertension (SAH) was 37 years, and 64.2% had deceased donors. In regard to immunosuppression, 41.3% made use of steroids. After 36 months of follow-up, the average weight gain was 6.6 kg in relation to the first month post-transplantation. Among the variables studied, the recipient's younger age and female gender, the younger donor, and the creatinine level were associated with greater weight gain after 36 months of transplantation. CONCLUSION: The percentage of weight gain was on average 9% after 36 months post-transplantation, although the prevalence of overweight and obesity increased significantly in the same period. The use of steroid therapy had no impact on the percentage of weight gain post-transplantation, and association was observed only between the younger age and the female gender of the recipient, the younger donor age, and the creatinine level with the highest weight gain post-transplantation.

Hepatic photosensitization in buffaloes intoxicated by Brachiaria decumbens in Minas Gerais state, Brazil.

The aim of this paper is to report the study of hepatogenous photosensitization in buffaloes during two outbreaks provoked by ingestion of Brachiaria decumbens in Minas Gerais state, Brazil. Ten young buffaloes in outbreak 1 and seven buffaloes in outbreak 2 were intoxicated by B. decumbens. Nine clinically healthy buffaloes raised under the same conditions as the sick animals served as the control group. All animals were subjected to clinical examination, and serum was collected to measure gamma-glutamyl transferase (GGT), aspartate aminotransferase (AST), direct bilirubin (DB), indirect bilirubin (IB) and total bilirubin (TB) as indicators of liver function and urea and creatinine as indicators of renal function. Histopathology of liver fragments from five different animals was carried out. During the outbreaks and every two months for one year, samples of grass from paddocks where the animals got sick were collected for quantitative evaluation of the saponin protodioscin, combined with observations of pasture characteristics and daily rainfall. Clinical signs included apathy, weight loss, restlessness, scar retraction of the ears and intense itching at the skin lesions, mainly on the rump, the tail head, neck and hindlimbs, similar to the signs observed in other ruminants. Only the GGT enzyme presented significantly different (P < 0.01) serum levels between intoxicated animals (n = 17) and healthy animals (n = 9), indicating liver damage in buffaloes bred in B. decumbens pastures. Microscopy of the liver showed foamy macrophages and lesions of liver disease associated with the presence of crystals in the bile ducts, which have also been found in sheep and cattle poisoned by grasses of the genus Brachiaria. During the outbreaks, protodioscin levels were higher than 3%, and shortly after, these levels were reduced to less than 0.80%, suggesting a hepatic injury etiology. The outbreaks took place at the beginning of the rainy season, and there was a positive correlation between saponin and the amount of rainfall, as well as between saponin and the amount of green leaves in the pasture. These findings indicate that the grass was more toxic in this period. This is the first report of photosensitization by B. decumbens in buffalo.

Fatal bothropic snakebite in a horse: a case report

The present study reports a snakebite in a horse in the state of Pará, Brazil. At initial evaluation the animal was reluctant to walk and had tachycardia, tachypnea, severe lameness, bleeding on the pastern and swelling around the left hind leg. Blood samples from the bleeding sites, took on the first day, showed leukocytosis and neutrophilia, whereas biochemical values of urea and creatinine were significantly increased. The chosen treatment was snake antivenom, fluid therapy, antibiotics, anti-inflammatory agents and diuretic drugs. On the fourth day of therapy, the hematological values were within normal parameters. There was improvement related to the clinical lameness and swelling of the limb. However, a decrease in water intake and oliguria were observed. On the seventh day the animal died. Necropsy revealed areas of hemorrhagic edema in the left hind limb and ventral abdomen; the kidneys presented equimosis in the capsule, and when cut they were wet. Moreover, the cortex was pale, slightly yellow and the medullary striae had the same aspect. Based on these data, we concluded that the snakebite in the present study was caused by Bothrops spp. and that renal failure contributed to death.

Visceral leishmaniasis in renal transplant recipients: clinical aspects, diagnostic problems, and response to treatment.

Visceral leishmaniasis (VL) is a parasitic infection that uncommonly affects renal transplantation recipients, even in endemic areas. It may be associated with other infections, or masked by these, and may present subclinically and/or atypically for extended periods. The evolution may be particularly severe and diagnosis is often delayed. If not adequately diagnosed and treated, VL can be fatal and so should be suspected in renal transplantation recipients presenting unexplained fever, splenomegaly, and pancytopenia. The authors report 8 cases of VL out of a total of 800 renal transplant recipients from two transplant hospitals centers in Brazil. The clinical, diagnostic, and therapeutic features are reviewed.