Revisiting the metallothionein genes polymorphisms and the risk of oral squamous cell carcinoma in a Brazilian population.

BACKGROUND: Metallothioneins (MTs) gene polymorphisms have been associated with the ability of free radical scavenging and detoxification of heavy metals leading to cancer development. Our aim was to revisit, in a Brazilian population, single-nucleotide polymorphisms (SNPs) of the MT gene family previously associated with oral squamous cell carcinoma (OSCC). MATERIAL AND METHODS: A case-control investigation with 28 OSCC patients and 45 controls was conducted, using conventional risk factors (tobacco use and alcohol consumption) as covariates. SNPs genotyping for rs8052334 (MT1B), rs964372 (MT1B), and rs1610216 (MT2A) was performed by PCR-RFLP, and SNPs for rs11076161 (MT1A) were analyzed by TaqMan assay. RESULTS: The only SNP associated with increased risk for OSCC was the MT-1A AA genotype (OR = 4.7; p = 0.01). We have also evidenced for the first time a significant linkage disequilibrium between the SNPs of MT-2A and MT-1A in this population with the highest frequency (30%) of the unfavorable haplotype G/A/C/T (rs1610216 / rs11076161 / rs964372 / rs8052334) of MT gene polymorphisms (OR = 6.2; p = 0.04). Interestingly, after removing the effects of conventional risk factors, we have uncovered the significance of the AA genotype of the rs11076161 with increased odds of 19-fold higher towards OSCC development. CONCLUSIONS: This is the first demonstration that a significant linkage disequilibrium among gene polymorphisms of the MT family may affect susceptibility to oral cancer, which is conditioned by the G/A/C/T haplotype (rs1610216/rs11076161/rs964372/ rs8052334) and the MT-1A gene polymorphism has a potential clinical utility for the OSCC risk assessment.

New records of Batrachochytrium dendrobatidis in the state of Bahia, Brazil: histological analysis in anuran amphibian collections.

Infection caused by the fungus Batrachochytrium dendrobatidis (Bd) produces chytridiomycosis, a disease considered one of the main causes of amphibian population declines in the world. In Brazil, Bd has been recorded in several regions, but mainly in the Atlantic Forest biome. This study aimed to investigate the occurrence of Bd in amphibian species in Bahia State to test the hypothesis that Bd is widespread in other Brazilian biomes. Using histological analysis, we evaluated the skin of 190 anurans of 85 species preserved in herpetological collections. Based on these analyses, the distribution of Bd was extended approximately 400 km to the west, 150 km to the north and 105 km to the east in the state of Bahia. Of the 190 specimens analyzed, Bd infection was diagnosed in 16 individuals, from 14 species, with the earliest record from a specimen collected in 1996 in the Caatinga biome. We identified Bd in 13 adult specimens, including 2 individuals showing suggestive signs of the disease (loss of skin pigmentation). In tadpoles, we recorded fungal structures in the oral region and on the epidermis adjacent to the rows of teeth. The results of this study corroborate the prediction that Bd is widespread in the Atlantic Forest biome, and suggest that it is widespread in the other biomes of the state (Cerrado and Caatinga, at least since 1996). Conservation efforts should involve long-term studies aimed at providing information on the dynamics of the infection, its relationship with its host and its effect on amphibian populations.

Phosphate Transporters Expression in Patients with Primary Familial Brain Calcifications.

Primary familial brain calcification (PFBC), formerly known as Fahr disease, is a rare neurological disorder characterized by extensive calcification deposits in the brain. So far, four genes have been reported with variations associated with PFBC, SLC20A2, PDGFß, PDGFRß, and XPR1. Using real-time qPCR, we analyzed the expression of three inorganic phosphate (Pi) transporters (SLC20A1, SLC20A2, and XPR1) in patients with PFBC. Our results showed a significant reduction (~40%) of SLC20A2 expression in the patients carrying mutation whereas no significant change was observed within the patients without known mutations. No difference was detected in SLC20A1 and XPR1 expression between the groups compared to control. The results suggest that mutations in SLC20A2 gene by itself play an import role by reducing its expression in blood of PFBC patients. At the same time, we could not demonstrate a direct co-regulation between the three Pi transporters at mRNA level, once their expression did not change among the groups.

Contribution of morphoagronomic traits to grain yield and earliness in grain sorghum.

Given the importance of selecting lines to obtain hybrids, we aimed to verify the relationship between morphological traits that can be used as the criteria for the selection of sorghum lines with high grain yield and earliness. A total of 18 traits were evaluated in 160 sorghum elite lines, in an incomplete block design with two replicates. A correlation network was used to graphically express the estimates of phenotypic and genotypic correlations between the traits. Two path analyses were processed, the first considering grain yield and the second considering flowering as the principle dependent variable. In general, most of the variation in the grain yield and flowering of sorghum lines was explained by the traits evaluated. Selecting sorghum lines with greater width of the third leaf blade from flag leaf, panicle weight, and panicle harvest index might lead to increased grain yield, and selecting sorghum genotypes with higher plant height might lead to reduced earliness and increased grain yield. Thus, the results suggest the establishment of selection indices aiming at simultaneously increasing the grain yield and earliness in sorghum genotypes.

De Mello's Single Incision for Combined Liver-kidney Transplantation, Keeping the Kidney Retroperitoneal: A Case Report.

The combined liver-kidney transplantation (cLKT) is the procedure of choice for patients with end-stage liver and kidney disease. In cLKT we can usually accommodate the grafts in two different ways, varying the kidney placement. The retroperitoneal kidney implant has some advantages, such as the easy access or avoiding vascular complications. We propose a new single incision, not yet reported, maintaining an extraperitoneal kidney, with excellent surgical field for cLKT and possible reduction of the impact of wound complications.

Transplacental Transmission of Ovine Herpesvirus 2 in Cattle with Sheep-associated Malignant Catarrhal Fever.

Sheep-associated malignant catarrhal fever (SA-MCF) is an important infectious disease of ruminants worldwide that is caused by ovine herpesvirus 2 (OvHV-2). OvHV-2 is transmitted predominantly by contact between infected and susceptible hosts, while the documentation of vertical transmission is rare. This report presents the pathological and molecular findings associated with transplacental transmission of OvHV-2 in cattle. Two Girolanda cows with corneal oedema, lethargy, mucopurulent nasal discharge and ulcerative stomatitis died spontaneously; one of these was pregnant with a 4-month-old fetus. Significant pathological findings included widespread lymphoplasmacytic necrotizing vasculitis and lymphoplasmacytic accumulations in several organs of both cows and the fetus. A polymerase chain reaction that targeted the tegument protein gene of OvHV-2 amplified viral DNA from the brain of the pregnant cow and her fetus, as well as from the kidney of the pregnant cow. The pathological findings observed in the cow and her fetus, together with the presence of OvHV-2 DNA in tissues of these animals, are suggestive of transplacental transmission of OvHV-2 in SA-MCF in cattle.

First report of a de novo mutation at SLC20A2 in a patient with brain calcification.

Primary familial brain calcification (PFBC) is identified by mineralization of the basal ganglia and other brain regions in the absence of known causes. The condition is often inherited in an autosomal dominant pattern and can manifest itself clinically with neuropsychiatric symptoms such as Parkinsonism, headaches, psychosis, and mood swings. Mutations in the SLC20A2 gene account for ~40% of inherited cases, and this gene encodes an inorganic phosphate transporter (PiT-2), a transmembrane protein associated with Pi homeostasis. The p.Y386X mutation in SLC20A2 was identified in a patient who presented migraines, brain calcification, and mild but chronic hypovitaminosis D. SLC20A2 c.1158C > G single-nucleotide heterozygous mutation results in a premature stop codon and a putative truncated protein of 385 amino acids. Proband parents do not present the mutation, which is also not present in major public SNP databases, suggesting a de novo sporadic trait. This study describes for the first time a de novo SLC20A2 mutation in a PFBC patient with migraine and mild hypovitaminosis D. This data further reinforces the pathogenic role of SLC20A2 mutations as causal factors in PFBC physiopathology.

Platynosomum fastosum-induced cholangiocarcinomas in cats.

Platynosomum fastosum is a feline biliary tract trematode that generally causes asymptomatic infections. In the early 1980s in Brazil, P. fastosum was associated with cholangiocarcinomas, but this finding was not confirmed in the various publications on the parasite during the last 30 years. This study aims to report three cases of cholangiocarcinomas in cats associated with the presence of P. fastosum. From 2000 to 2011, in the Veterinary Hospital of the Federal University of Campina Grande in northeast Brazil, 348 cats were necropsied, 11 of which (3.16%) were parasitized by P. fastosum. Three cases that resulted in death were associated with cholangiocarcinomas that were found to be associated with P. fastosum. Histologically, the tumors consisted of acini composed of cells with pleomorphic nuclei, loose chromatin, evident nucleoli and lightly eosinophilic cytoplasm. Metastases were observed in two cases. The first case involved metastases to the lungs, kidneys, ovary and peritoneum, and in the second case, the lymph nodes, kidneys, heart and encephalon were involved. The other 8 cats died from other causes, and the parasite was an incidental finding. In those cases, the histologic lesions were nonsuppurative cholangiohepatitis and periductal fibrosis with P. fastosum present. Six animals also showed pre-neoplastic changes (hyperplasia and dysplasia) of the biliary duct epithelium. The study concluded that, as observed in other human biliary tract trematodes, P. fastosum causes cholangiocarcinomas in the liver of cats.

High mortality and lesions of the central nervous system in trypanosomosis by Trypanosoma vivax in Brazilian hair sheep.

Here, we report an outbreak of Trypanosoma vivax-induced trypanosomosis in Brazilian hair sheep on a farm in Paraíba state, a non-endemic region in northeastern Brazilian. Of 306 total sheep, 240 showed clinical signs and 216 died. Clinical signs included anorexia, lethargy, anemia, rough hair coat, weight loss, submandibular edema, abortion, and in some cases, neurological signs such as head pressing, lateral recumbence, paddling movements and muscle tremors. T. vivax was identified by blood smear analysis and polymerase chain reaction (PCR). At necropsy, animals exhibited watery blood, pale tissue coloring, and the presence of liquid in the peritoneal cavity and pericardial sac. Histologically, nonsuppurative myocarditis and meningoencephalitis with areas of malacia were observed. After treatment, no parasites were detected by blood smear analysis or PCR. Cattle and buffalo that remained in the same pasture were also infected but presented with asymptomatic infections. Epidemiological data suggest that T. vivax was introduced to the farm and the susceptible flock by buffalos that were asymptomatic carriers of the infection; T. vivax was most likely transmitted by Tabanus spp. bites and also iatrogenically.

Removal of retained subretinal perfluorocarbon liquid.

AIM: To report a case series in which a modified technique was used to remove retained subretinal perfluorocarbon liquid. METHOD: In three patients with retained subretinal perfluorocarbon liquid, a three-port pars plana vitrectomy approach was used to perform a small self-sealing retinotomy adjacent to the perfluorocarbon liquid bubble. The tip of a 50-G glass micropipette connected to an active suction system was inserted in the bubble, and the liquid was aspirated. RESULTS: Successful removal of subretinal perfluorocarbon liquid was achieved in all cases with no complications. Visual acuity improved in all patients. CONCLUSION: With the technique presented, retained subretinal perfluorocarbon liquid can be successfully removed with minimal trauma to adjacent tissues.

Mimosa tenuiflora as a cause of malformations in ruminants in the northeastern Brazilian semiarid rangelands.

Craniofacial anomalies, eye malformations, and permanent flexures of the forelimbs are common malformations seen in ruminants grazing semiarid rangelands of Northeastern Brazil. To investigate the cause of these malformations, we fed 2 suspected plants, Mimosa tenuiflora or Prosopis juliflora, to groups of 4 pregnant goats each. Fresh green M. tenuiflora was collected daily and fed ad libitum to 4 goats in group 1 throughout pregnancy. This treatment group also received a supplemental feed concentrate equivalent to 1% body weight. Four goats in group 2 received a ration with 70% of P. juliflora pods and 30% hay throughout pregnancy. Four control goats were fed supplemental feed concentrate (1% body weight) and hay ad libitum throughout pregnancy. Goats treated with P. juliflora pods and the control goats delivered 9 normal kids. The four goats that were fed M. tenuiflora during pregnancy delivered 4 kids, 3 of which had abnormalities similar to those observed in field cases, including cleft lip, unilateral corneal opacity, ocular bilateral dermoids, buphthalmos with a cloudy brownish appearance of the anterior chamber due to an iridal cyst, and segmental stenosis of the colon. Malformations induced experimentally by M. tenuiflora were similar to those observed in field cases, suggesting that M. tenuiflora is a cause of the field cases observed in the Brazilian semiarid rangelands.

Therapy of paraneoplastic pemphigus with Rituximab: a case report and review of literature.

Paraneoplastic pemphigus (PNP) is an autoimmune blistering disease with poor prognosis when associated with malignant neoplasm. We report the case of a patient with PNP associated with a CD20+ non-Hodgkin follicular lymphoma who was treated with Rituximab plus corticosteroids and short courses of cyclosporin. One and a half years after Rituximab therapy, oral ulcerations had cleared and oral methylprednisolone was slowly tapered down without further recurrences. In the course of the disease, the patient developed sepsis due to Listeria monocytogenes and viral infections by human herpes virus 1 and 3. At the end-stage of the disease she developed a cutaneous infection from Mycobacterium chelonae. The patient died 2 years and 7 months after the onset of PNP. Rituximab may be useful for PNP therapy, but further studies are necessary to confirm this hypothesis.

Non-steroidal anti-inflammatory drugs inhibit epinephrine- and cAMP-mediated lipolysis in isolated rat adipocytes.

Acute ethanol intoxication increased triacylglycerides (TAG) and thiobarbituric acid reactive substances (TBARS) in liver and promoted the liberation of epinephrine. Four non-steroidal anti-inflammatory drugs (NSAIDs)--aspirin, naproxen, nimesulide and piroxicam--prevented this increase in TAG and TBARS. Because fatty acids provided by adipose tissue contribute substantially to elevated hepatic TAG in ethanol-intoxicated rats, it was thought that the NSAIDs might reduce epinephrine-stimulated lipolysis in these rats. Isolated rat adipocytes were activated with epinephrine in the presence or absence of the NSAIDs. The NSAIDs inhibited epinephrine-stimulated lipolysis. These drugs did not modify the binding of dihydroalprenolol (beta-adrenergic agonist) to their receptors in isolated guinea-pig liver membranes. The NSAIDs, at concentrations 3,000-fold lower than that of cAMP, inhibited stimulated lipolysis by this messenger. In conclusion, aspirin, naproxen, nimesulide and piroxicam reduce the release of fatty acids from adipose tissue to the liver by inhibiting the epinephrine-stimulated lipolysis, and this, in part, explains the protective action of these NSAIDs against hepatic signs of acute ethanol intoxication.

[Lithiasis in megacalyosis]. / La litiasis en la megacaliosis.

OBJECTIVE: To review our series of lithiasis associated with megacalyosis, a rare disease entity. METHODS/RESULTS: The clinical records of patients treated from 1976 to 1994 were reviewed. Of 39 cases of megacalyosis, 27 were associated with lithiasis and was slightly more prevalent in males (59.3%). Struvite and whewelite calculi were more prevalent and 40.7% also had urinary tract infection, E. coli, Pseudomonas and Proteus being the most frequent pathogens. ESWL with hyperhydration was the most frequently utilized treatment. CONCLUSIONS: Megacalyosis is an embryogenic anomaly of Malpighi's pyramids that is associated with lithiasis in 69.2% of our series, frequently localized to the left side. We have found no significant difference according to sex or a hereditary component. IVP is the principal diagnostic method for megacalyosis. The frequent association of urinary tract infection should be taken into account when instituting treatment.

Secondary acute angle closure glaucoma: a complication of AIDS.

A 58-year-old man with advanced AIDS presented to the emergency department complaining of headache and decreased vision bilaterally. On evaluation, he was found to have intraocular pressures of 69 and 65 mm Hg. After topical treatment with miotics and apraclonidine, he was given intravenous acetazolamide (Diamox) and peripheral iridotomy was performed. The pressures did not improve significantly. Secondary acute angle closure glaucoma was diagnosed. Emergency physicians should consider this diagnosis when evaluating AIDS patients with visual complaints.

Incidentally detected renal angiomyolipoma with tumour thrombus into the inferior vena cava.

A right-renal angiomyolipoma with tumour thrombus into the inferior vena cava was incidentally detected. This is the ninth published case of its type and the second incidental case. Presence of a thrombus does not imply invasive disease, but the tumour then is often bigger than 6 cm and radical surgery is mandatory.

[Lithiasis in renal transplantation]. / Litiasis en trasplante renal.

Lithiasis as a post-renal transplantation complication is rare and of delayed appearance. After having revised 320 transplantations performed at the Fundación Puigvert 8 cases were found, which implies a two-fold increased incidence over other series studied and greater than the prevalence in the normal population. We confirmed the existence of lithogenous factors in 7 of the 8 cases, and found that in 50% of them the calculus composition was urate, what explained the differences versus normal population in terms of treatment with cyclosporin and the personal background. Two therapeutic schemes may be outlined based on the chemical composition of the calculus, and thus ultrasound-guided ESWL is chosen as chronic therapy when calculi have a calcic origin whereas medical management is used when their nature is uric, even though we understand that treatment must be individualized in each case. We have obtained good results in all 8 cases without compromising neither the renal function nor the graft viability.

Cyclic antidepressant overdoses. A review.

Cyclic antidepressant drug toxicity is a common cause of death from prescription drug overdose in the United States. The pathophysiologic features include cardiac, neurologic, and gastrointestinal effects. Major signs of toxicity are identifiable in the emergency department. Treatment includes aggressive supportive care, activated charcoal, alkalinization therapy, and management of arrhythmias, hypotension, and seizures. Outcomes are generally good when early appropriate treatment is initiated.

Prognostic value of the emergency department cardiogram for in-hospital complications of acute myocardial infarction [corrected].

STUDY OBJECTIVE: To identify patients who are admitted from the emergency department with chest discomfort who are at low risk for life-threatening complications. DESIGN: Retrospective chart review. SETTING: A 450-bed military medical center providing active duty and military beneficiaries. TYPE OF PARTICIPANTS: Six hundred twenty-one patients admitted to an ICU from the ED with the chief compliant of chest discomfort. MEASUREMENTS AND MAIN RESULTS: Study participants were placed into low- and high-risk groups based on clinical criteria and ECGs. The groups were compared with respect to occurrence of life-threatening complications during the hospital course. Three of the 262 patients in the low-risk group experienced life-threatening events; two died. Twenty-nine of the 224 high-risk patients experienced life-threatening events; 17 died . Results were statistically evaluated using Fisher's exact test. Significance was achieved at a value of P < .01. CONCLUSION: Patients who meet low-risk group criteria have a low likelihood of immediate life-threatening events and could be admitted to an intermediate care unit.