Genetic Analysis of PARK2 and PINK1 Genes in Brazilian Patients with Early-Onset Parkinson's Disease

Parkinson''s disease is the second most frequent neurodegenerative disorder in the world, affecting 1-2% of individuals over the age of 65. The etiology of Parkinson''s disease is complex, with the involvement of gene-environment interactions. Although it is considered a disease of late manifestation, early-onset forms of parkinsonism contribute to 5–10% of all cases. In the present study, we screened mutations in coding regions of PARK2 and PINK1 genes in 136 unrelated Brazilian patients with early-onset Parkinson''s disease through automatic sequencing. We identified six missense variants in PARK2 gene: one known pathogenic mutation, two variants of uncertain role, and three nonpathogenic changes. No pathogenic mutation was identified in PINK1 gene, only benign polymorphisms. All putative pathogenic variants found in this study were in heterozygous state. Our data show that PARK2 point mutations are more common in Brazilian early-onset Parkinson''s disease patients (2.9%) than PINK1 missense variants (0%), corroborating other studies worldwide.     

Diabetes lipoatrófica. Un reto terapéutico

Congenital generalised lipodystrophy is a rare autosomal recessive disorder characterised by a marked deficiency of adipose tissue and usually recognised at birth. This disorder is associated with early development of metabolic complications such as hypertriglyceridemia, hepatic steatosis, and insulin resistance. These complications ultimately lead to fatal events as a consequence of early atherosclerosis, lipoatrophic diabetes and hepatic cirrhosis. The authors report the case of a patient diagnosed, based on clinical and laboratory findings, in the first year of life. The established diagnosis was then confirmed by identifying a mutation in the BSCL2 gene. Because the hypertriglyceridemia and diabetes were refractory to treatment, the authors present this case in order to reflect on the best therapeutic management of this pathology.     

Acquired Left Ventricular Submitral Aneurysms in the Course of Takayasu Arteritis in a Child

A 9‐year‐old black African boy was hospitalized for heart failure revealing a severe left ventricular dysfunction associated with dilated cardiomyopathy, two submitral aneurysms, occlusion of the circumflex artery and a giant coronary artery aneurysm on the proximal left anterior descending artery. The boy was coinfected with human immunodeficiency virus and Mycobacterium tuberculosis. Though rare, association of Takayasu arteritis and submitral aneurysm leads to rethinking the pathogenesis of submitral aneurysm and suggests that some of them may be acquired. In our case, a common inflammatory process, possibly triggered by tuberculosis or HIV, may underlie Takayasu and submitral aneurysms.     

Pesticides as risk factors for head and neck cancer: A review

Humans may be exposed to pesticides such as fungicides, herbicides, and insecticides, during occupational and non‐occupational activities. Pesticides could be related to cancer development mainly because of their effects on the endocrine and immune systems and their cumulative effect. The present review evaluated in current literature evidence of an association between exposure to pesticides and the occurrence of head and neck cancer (HNC). A literature search for cohort studies was conducted in the PubMed, Web of science, and Cochrane databases. Methodological quality of each study was rated with the Scottish Intercollegiate Guidelines Network (SIGN) checklist. One thousand one hundred and thirty‐two studies were identified. Thirty‐two were included. Most of the studies found addressed occupational exposure to pesticides and were conducted in Europe and North America. Eleven high‐quality studies were found. Most of them found no association between exposure to pesticides and increased risk of HNC. Two studies found some evidence of a positive association between pesticide (malathion and atrazine) exposure and thyroid cancer. The literature review does not support a clear evidence for association between pesticides exposure and HNC. Only limited evidence points to a positive association between exposure to some pesticides and thyroid cancer. Further standardized studies based on appropriate designs are required to clarify the effect of pesticides on the genesis of HNC, considering dose, length of exposure, and type of pesticide.     

Role of Intracystic Cytokines and Nitric Oxide in Ovarian Neoplasms

The development of new biomarkers for the diagnosis and prognosis of ovarian cancer may provide an opportunity for new therapies. In this study, we aimed to compare cytokines (interleukin [IL]‐2, IL‐5, IL‐6, IL‐8, IL‐10 and tumour necrosis factor [TNF]‐α) and nitric oxide (NO) metabolite levels in non‐neoplastic tumours, benign primary ovarian tumours and malignant primary ovarian neoplasms. The secondary aim was to relate cytokine and intracystic NO metabolite levels to clinical, laboratory and pathologic characteristics for patients with primary ovarian malignancies. We evaluated 110 patients with adnexal masses. Cytokine concentrations were quantified by enzyme‐linked immunosorbent assay and nitrate concentrations by enzymatic reduction of nitrite by nitrate reductase. Patients with malignant neoplasms had higher IL‐6, IL‐8 and NO levels compared to patients with benign neoplasms. Histologic grade 1 tumours were associated with elevated IL‐2 levels, whereas anaemia was associated with elevated IL‐6 levels. On average, those patients with elevated IL‐8 levels also had a neutrophil/lymphocyte ratio (NLR) greater than 2.6 and less than 36 months of disease‐free survival (DFS). Patients with normal CA 19‐9 levels had elevated IL‐10 levels. TNF‐α was elevated in patients with two carcinogenesis and those with a platelet/lymphocyte ratio (PLR) less than 300. NO levels were higher in patients with an NLR less than 2.6 and CA 19‐9 greater than 35 U/ml. Elevated intracystic cytokine levels, especially IL‐6 and IL‐8, are associated with worse prognosis in ovarian cancer.     

Anti-inflammatory effect of low-intensity laser on the healing of third-degree burn wounds in rats

Third-degree burn wounds are considered severe injuries because they destroy all the skin layers and may affect subcutaneous tissues, fasciae, muscles, and bones. To favor the healing process of the injured tissues, it is very useful to diminish the occurrence of the inflammatory process. The present study was aimed at comparing the effect of different energetic densities of AlGaInP laser on the inflammatory process and in the healing of third-degree burn wounds in Wistar rats. This study was approved by the Ethics Committee, in which 36 adult male rats were selected and suffered the induction of third-degree burn injury. These rats were divided as follows: group 1—control (treated with silver sulfadiazine), group 2—received energy density of 3 J/cm², and group 3—received energy density of 6 J/cm². All animals daily received an occlusive bandage with silver sulfadiazine and 8 % papain. The laser therapy was performed alternatively three times a week. The animals were evaluated on the 3rd, 7th, 14th, and 21st days after the initial lesion and euthanized for the macroscopic, histologic, and morphometric analysis. A higher production of collagen was observed at 7 days and a greater re-epithelialization at 21 days in group 3 (6 J/cm²). Furthermore, the latter when compared to the other groups presented macroscopically a better aspect of the scar at 21 days with more granulation tissue and fibrosis. We conclude that the AlGaInP laser used in dosages of 3 and 6 J/cm² favors the healing of third-degree burn wounds induced in rats.     

Seasonal analysis and acaricidal activity of the thymol-type essential oil of Ocimum gratissimum and its major constituents against Rhipicephalus microplus (Acari: Ixodidae)

Parasitology Research - The tick Rhipicephalus microplus affects cattle health, with production loss in tropical and subtropical regions. Moreover, the use of commercial acaricides has been reduced...     

A survey of hemoparasites and ectoparasites in Nasua nasua Linnaeus, 1766 with a redescription of Hepatozoon procyonis Richards, 1961 based on morphological and molecular data

Parasitology Research - Hemoparasites are vector-borne parasites that infect wild carnivores worldwide. Since data on hemoparasite infections in Nasua nasua from Brazil are lacking, the aim of this...