Cherubism: Clinical case and genetic standpoints

Cherubism is a rare non-neoplastic hereditary disease, characterized by bilateral bone enlargement of the jaws and is accompanied by inflammation and fibrosis in childhood. An increase in jaw size is noted, with maximum enlargement occurring within 2 years of onset in most cases. By age 7, the lesions become static or progress relatively slowly until puberty. During the late teens, the disease may undergo spontaneous involution. The present case show a patient with history of bilateral enlargement of the jaw with the triad of clinical, histological and radiological findings that helps in the final diagnosis of cherubism.

Experimental infection of commercial layers using a Salmonella enterica sorovar Gallinarum strain: Blood serum components and histopathological changes

The purpose of the study was to evaluate the blood serum components and histopathological findings of commercial layers experimentally infected with Salmonella Gallinarum (SG), the microorganism responsible for the fowl typhoid. 180 commercial layers were distributed into three groups (G): G1 and G2 received 0.2mL of inoculum containing 3.3x10 8 and 3.3x10 5 CFU of resistant SG to the nalidix acid (Nal r)/mL, respectively, directly into their crops; G3 did not receive the inoculum (control group). The birds were inoculated when they were 5 days old and the euthanasia was performed 24 hours before and after infection and 3, 5, 7 and 10 days after the administration of the inoculum. In each day of collection, blood samples were obtained for biochemical tests of the blood serum besides macroscopic and histopathological examination of the birds. Data were submitted to analysis of variance by the SAS statistical program and the means were compared by Tukeýs test (P<0,05). In the serum biochemical profile it was observed that the infection interfered in the values of total protein, albumin, calcium, phosphorus, cholesterol, triglycerides, GGT and ALT in the infected groups. The macroscopic examination showed hepatomegaly, alteration of the hepatic color and hemorrhagic spots in the kidneys of animals from G1. The histopathology showed degeneration of hepatocytes in G1 and G2 although other lesions like multifocal hepatic necrosis and inflammatory infiltrate on the liver and kidneys were restricted to G1. The alterations were more evident on G1 which received a higher concentration of bacteria/mL when compared to G2. The results showed that the correlation between biochemical alterations and macroscopic and histopathological lesions can assist the comprehension of the pathophysiology of fowl typhoid, supplying important information for the diagnosis and prognosis of this disease.

Planejamento, síntese e avaliação farmacológica de compostos híbridos potencialmente ativos para o tratamento da anemia falciforme

Sickle cell disease (SCD) is a hereditary hemolytic anemia caused by the inheritance of one S hemoglobin gene from each ancestor. Patients with SCD present increased circulating levels of cytokines, including TNF-alpha (TNF-α). Hydroxyurea (HU) is the available therapeutically strategy for treatment; it acts as a source of nitric oxide and benefits patients by increasing the levels of fetal hemoglobin (HbF). Thus, within one research line that aims at finding new drugs, a series of compounds with TNF-α inhibition and nitric oxide donation properties have been synthesized in order to explore possible synergism of actions beneficial in the treatment of the disease. Six compounds were synthesized: five derivatives of organic nitrates and one of sulfonamide. The compounds, (1,3-dioxo-1,3-dihydro-2Hisoindol-2-yl) methyl nitrate (compound I); (1,3-dioxo-1,3-dihydro-2H-isoindol-2-yl) ethyl nitrate (compound II); 3-(1,3-dioxo-1,3-dihydro-2H-isoindol-2-yl) benzyl nitrate (compound III);4-(1,3-dioxo-1,3-dihydro-2H-isoindol-2-yl)-N-hydroxybenzenesulfonamide (compound IV); 4-(1,3-dioxo-1,3-dihydro-2H-isoindol-2-yl) benzyl nitrate (compound V) and 2-[4-(1,3-dioxo-1,3-dihydro-2H-isoindol-2-yl) phenyl]ethyl nitrate (compound VI), were synthesized using linear synthetic methodology, with excellent overall yields. All compounds showed anti-inflammatory and analgesic effects with a reduction in 43%-65% of ear edema in mice and a reduction of 25%-42% of writhing induced by acetic acid. All compounds showed comparable reductions in the leukocyte infiltration capacity and ability to generate nitric oxide. The aryl compounds (III, IV and V) presented less mutagenic activity compared to compounds I, II and VI according to the salmonella mutagenicity assay (Ames test). Compounds IV and VI showed activity in K562 culture cells, with increases in gamma globin gene expression to levels higher than with hydroxyurea suggesting a potential to increase fetal hemoglobin. This data set characterizes new potentially useful drug candidates for the treatment of symptoms of sickle cell anemia.

Marginal resection for treatment of mandibular osteomyelitis associated with osteopetrosis: Case report

Osteopetrosis (OP) is a rare hereditary disorder characterized by a dysfunction of the osteoclasts that impairs bone resorption, which together with the normal osteoblastic activity forms intense bone sclerosis with reduction of marrow. A common complication that arises, most frequently, as a result of tooth extraction is mandibular osteomyelitis. There is no consensus on the literature about the treatment of this infection in an osteopetrotic patient, therefore, the purpose of this paper is to report a case of marginal resection for treatment of mandibular osteomyelitis in an osteopetrotic patient and discuss relevant features of this procedure. © 2010 European Association for Cranio-Maxillo-Facial Surgery.

Ligature of external carotid artery as an optional technique in a patient with von Willebrand disease

The von Willebrand disease (vWD) is a hereditary coagulopathy. There is no gender predilection. Clinically characterized by mucocutaneous bleeding, especially nose bleeding, menorrhagia and bleeding after trauma. This article reports a case of a 52-year-old Caucasian male patient with vWD, who presented with extensive bleeding in the tongue after a lacerating injury caused by accidental biting, and describes some clinical, pathological and treatment aspects of vWD. After repeated attempts to suture the wound and replace clotting factors, a decision was made to perform the ligature of the external carotid artery ipsilateral to the injury. There was favorable resolution of the case, with a good aspect of the scar 2 months after ligation. This case reinforces that it is extremely important to make a thorough review of medical history of all patients, searching for possible bleeding disorders or previous family history.

Influence of δβ-thalassemia or regulatory elements in individuals with increased fetal Hb levels in the São Paulo northwest population

Fetal hemoglobin (Hb F), formed by two alpha globin chains (α) and two gamma chains (γ) (α2 γ2), has reduced expression in adults, ranging from 0 to 1% of total hemoglobin. Increased levels of Hb F are due to mutations in the β-globin family, which cause hereditary persistence of fetal hemoglobin (HPFH) and delta-beta thalassemia (δβ-thalassemia).The control of the production takes place by the regulatory region and regions outside the β-globin family, among them 2q16, 6q23, 8q, and Xp22.2.The aims of this study were to determine the presence and frequency of two mutations for δβ-thalassemia, the XmnI polymorphism and β-globin haplotypes in healthy individuals with increased Hb F in the State of São Paulo. We analyzed 60 samples of peripheral blood of healthy adults, without complaints of anemia. The samples were separated into two groups according to Hb F level: group I - 34 samples with Hb F ranging from 2 to 15% and group II - 26 samples with Hb F over 15%. In relation to the polymorphisms examined, we found three heterozygous individuals (5%) for Spanish δβ-thalassemia, belonging to group I, whose Hb F levels were within the normal range.The Sicilian δβ-thalassemia mutation was not found, indicating the need to study other polymorphisms related to the increase of Hb F in adult life.The frequency of XmnI polymorphism was 33.3% and the mean Hb F levels were 15.48 ± 11.69%.The frequency observed in our study for this polymorphic site is higher than that found in the literature for healthy subjects.This polymorphism was more prevalent in individuals with Hb F levels below 15%. For four samples positive for this polymorphism, the Hb F levels were explained by the presence of HPFH and Spanish δβ-thalassemia mutations, so that the presence of the XmnI polymorphic site was not a determinant in the overexpression of γ-globin genes. Regarding β-globin haplotypes, 18 alleles and 27 distinct genotypic patterns were found.The pattern Atp1/Atp2 was the mostfrequent genotype (13.72%).Of the 18 alleles, 13 showed atypical patterns.The results show that the haplotype V was the most frequent (27.45%), followed by atypical Atp2 (13.72%) and Atp1 (11.76%), and that there was a higher correlation with the presence of HPFH and XmnI polymorphism.The high frequency of haplotype V in our samples and high frequency of atypical haplotypes may reflect a high rate of miscegenation in this population, suggesting an ethnic characteristic for the Brazilian population, requiring the evaluation of population genetic markers to corroborate this hypothesis. © FUNPEC-RP.

Evaluation of HPFH and δβ-thalassemia mutations in a Brazilian group with high Hb F levels.

Fetal hemoglobin (Hb F) is characteristic of the fetal development period. However, in some genetic conditions, such as hereditary persistence of fetal hemoglobin (HPFH) and delta-beta thalassemia (δβ-thalassemia), Hb F continues to be produced in adulthood. We evaluated the frequency of two mutations of HPFH, HPFH-1 and HPFH-2 African, and two mutations in δβ-thalassemia, Sicilian and Spanish, in a Brazilian population. Peripheral blood samples were collected from adults from hospitals and blood centers in southeast and northeast Brazil. These individuals were healthy and without complaints of anemia, but had increased Hb F. Samples were submitted to electrophoretic and chromatographic analyses to quantify Hb F values and, subsequently, to molecular analyses to verify the mutations. In the molecular analysis, 16 of the 60 samples showed a heterozygous profile for the HPFH mutations, two for HPFH-1 and 14 for HPFH-2. In the same sample set, three were heterozygous for Spanish δβ-thalassemia and none were heterozygous for Sicilian δβ- thalassemia. The Hb F values in the HPFH-2 heterozygotes differed from those previously reported for this mutation. In this group, the HPFH mutations were more frequent than the δβ-thalassemia mutations. The finding of these mutations in this Brazilian population reflects the mixing process that occurred during its formation.

Mare's folliculogenesis: Assessment of ovarian and perifollicular vascular perfusion by doppler ultrasound

Background: Ultrasound Doppler is a new technology that has recently been used in large animal reproduction. As the conventional ultrasound (B-mode) it is a noninvasive technique, but with the advantage of allows the assessment of the hemodynamic of reproductive tract in real time. The observation of important features of the vascularization and changes that occur during physiological processes that were not previously seen on B-mode encourage a reassessment of the concepts already established on the events of the reproductive physiology of animals and their applications. Review: In attempt to re-understand the equine reproductive physiology and finding practical uses to this new technique, authors showed that, during the follicular deviation, features are observed by Doppler before being observed under B-mode ultrasound like changes in the speed of the blood flow two days before deviation of the follicle size and one day before the increase in blood flow area of the follicular wall. According to another study ovulation is characterized by a decreased blood flow of the follicular wall in the last four hours preceding it, as well as the serration of the granulosa layer and formation of a non vascularized apex, but in our ongoing study, the ability to decrease the vascularity was not found. Very vascularized follicles are associated with higher rates of oocyte maturation and pregnant that does less vascularized follicles in the preovulatory phase. Those follicles that have septated evacuation (or prolonged) showed more vascularization and serration of the granulosa one hour before ovulation than follicles that ovulate normally, and this vascularization includes the apex of the follicle, the follicular wall portion that is not vascularized in normal ovulation. Another study reported that hemorrhagic follicles have better vascularization of the follicular wall on the days preceding ovulation than follicles destined to ovulate. Some authors also showed that anovulatory follicles grow in size at the same rate as ovulatory follicles, but the percentage of vascularization of its wall is much smaller at 35 mm. Another study characterized that the vascular wall of the follicle that results in the first ovulation of the year is much smaller on the day before ovulation than the number of vessels present in a follicle that will ovulate in the middle of the breeding season. In these cases, the use of Doppler ultrasound can help to prevent economic losses as insemination of mares in cycles that are not able of resulting in pregnancy. This review aims to gather the information found in the literature about the characteristics of follicular hemodynamic of mares taking into account moments of deviation in follicle size, ovulation, ovulation failure and follicular viability. Conclusion: The Doppler technology has the potential to provide important information about the follicular environment and thus be used in practice in search of the perfect equine reproductive management, achieving better utilization of genetic material and increasing the financial return. The use of this new tool opens a large area for several interesting studies that will contribute to the knowledge of the physiological events of the mare for that this technique can soon be effectively applied.

Gastrointestinal changes associated to heart failure

Over the last decade, several studies were conducted on the gastrointestinal changes associated to chronic heart failure. This article presents a literature review on the physiopathology and clinical consequences of pathological digestive changes of heart failure patients. Structural and functional abnormalities of the gastrointestinal tract, such as edema of absorptive mucosa and intestinal bacterial overgrowth, have been leading to serious clinical consequences. Some of these consequences are cardiac cachexia, systemic inflammatory activation and anemia. These conditions, alone or in combination, may lead to worsening of the pre-existing ventricular dysfunction. Although currently there is no therapy specifically earmarked for gastrointestinal changes associated to heart failure, the understanding of digestive abnormalities is germane for the prevention and management of systemic consequences.

Qualidade microbiológica da água e histopatologia de brânquias de peixes provenientes de pisciculturas do município de itapecuru-mirim, Estado do Maranhão

The present study evaluated the microbiological water quality and tissue lesions in gills from Nile tilapia (Oreochromis niloticus) and hybrid tambacu (Colossoma macropomum female x Piaractus mesopotamicus male). For this, water and gills were collected from fish farming at six locations in Itapecuru- Mirim County, Maranhão State. Microbiological water analyses revealed contamination by total coliforms, Escherichia coli and heterotrophic bacteria. In the gills, we observed a diversity of Gram-positive and Gramnegative bacteria. The tissue lesions were: lamellar fusion, interlamellar hyperplasia, sub-epithelial edema and telangiectasia. Inflammatory lesions were not observed. Significant statistical difference (p > 0.05) was not detected when comparing different gills lesions during rainy and dry season. The correlation between lesion and pond type was statistically different (p < 0.05) for lamellar fusion and interlamellar hyperplasia which occurred more frequently at ground ponds. Regarding the frequency of lesions in the different fish species, there was statistical difference (p < 0.05), and the tambacu was more sensitive to lamellar fusion while tilapia was more sensitive for the other lesions. In relation to the sampling stations, there was statistical difference for all the gill lesions. In conclusion, tissue lesions are nonspecific and function as a defense mechanism against polluted aquatic environments, without infectious character.

Fondaparinux em intervenção coronária percutânea no tratamento da síndrome coronária aguda

Background: Fondaparinux is considered an agent with a well-established safety and efficacy profile in the treatment of non-ST segment elevation acute coronary syndromes, but when used alone, is associated to a higher incidence of thrombotic complications during invasive coronary procedures, requiring the supplementation of an anti-IIa agent. This study aimed to evaluate the efficacy and safety of percutaneous coronary intervention (PCI) in patients with non-ST segment elevation acute coronary syndromes previously treated with fondaparinux. Methods: Prospective, controlled registry enrolling 127 consecutive patients submitted to an early invasive stratification during treatment with fondaparinux, with supplementation of intravenous unfractionated heparin at a dose of 85 U/kg at the time of PCI. Results: The rate of the composite primary endpoint including death, acute myocardial infarction, stroke, stent thrombosis or emergency myocardial revascularization was 3.2%. The cumulative incidence of major bleeding and vascular complications was 3.2%. There were no cases of guidecatheter thrombosis or abrupt vessel closure. Conclusions: PCI in patients with acute coronary syndromes receiving fondaparinux is associated with a low rate of major adverse cardiovascular ischemic events and severe hemorrhagic complications. Supplementation of unfractionated heparin during the invasive procedures eliminates the risk of catheter-related thrombosis.

Dermatóglífos de mulheres obesas brasileiras

Study design: descriptive, observational, cross-sectional. Purpose: Obesity is a complex, multifactorial disease, including genetic and endocrine factors, demographic, socioeconomic, and epidemiological changes. It affects children, adults, and elderly persons. Searching respective hereditary risk indicators is increasing, mainly by applying simple and low-cost methodology. We included thus dermatoglyphics. Objective: To investigated 30 Brazilian women dermatoglyphic profiles, 46.1 ± 07.87 years old, and body fat % equal or higher than 30%. Results: Arch predominance, low loop frequency, and high amount of IV-finger whorls were observed, as well as frequency of rare palmar pattern in 2-interdigital area. Conclusions: Data confirm the variability of dermatoglyphics frequency in different population groups, revealing that the findings meant obesity, regardless of women's different personal characteristics. Thus, additional evidences on constitutional component of obesity have been accumulated.

Triacontyl p-coumarate: An inhibitor of snake venom metalloproteinases

Snake venom metalloproteinases (SVMPs) participate in a number of important biological, physiological and pathophysiological processes and are primarily responsible for the local tissue damage characteristic of viperid snake envenomations. The use of medicinal plant extracts as antidotes against animal venoms is an old practice, especially against snake envenomations. Such plants are sources of many pharmacologically active compounds and have been shown to antagonize the effects of some venoms and toxins. The present study explores the activity of triacontyl p-coumarate (PCT), an active compound isolated from root bark of Bombacopsis glabra vegetal extract (Bg), against harmful effects of Bothropoides pauloensis snake venom and isolated toxins (SVMPs or phospholipase A2). Before inhibition assays, Bg or PCT was incubated with venom or toxins at ratios of 1:1 and 1:5 (w/w; venom or isolated toxins/PCT) for 30 min at 37 °C. Treatment conditions were also assayed to simulate snakebite with PCT inoculated at either the same venom or toxin site. PCT neutralized fibrinogenolytic activity and plasmatic fibrinogen depletion induced by B. pauloensis venom or isolated toxin. PCT also efficiently inhibited the hemorrhagic (3MDH-minimum hemorrhagic dose injected i.d into mice) and myotoxic activities induced by Jararhagin, a metalloproteinase from B. jararaca at 1:5 ratio (toxin: inhibitor, w/w) when it was previously incubated with PCT and injected into mice or when PCT was administered after toxin injection. Docking simulations using data on a metalloproteinase (Neuwiedase) structure suggest that the binding between the protein and the inhibitor occurs mainly in the active site region causing blockade of the enzymatic reaction by displacement of catalytic water. Steric hindrance may also play a role in the mechanism since the PCT hydrophobic tail was found to interact with the loop associated with substrate anchorage. Thus, PCT may provide a alternative to complement ophidian envenomation treatments. © 2012 Elsevier Ltd. All rights reserved.

Integration of Genomics in Cancer Care

Purpose: The article aims to introduce nurses to how genetics-genomics is currently integrated into cancer care from prevention to treatment and influencing oncology nursing practice. Organizing Construct: An overview of genetics-genomics is described as it relates to cancer etiology, hereditary cancer syndromes, epigenetics factors, and management of care considerations. Methods: Peer-reviewed literature and expert professional guidelines were reviewed to address concepts of genetics-genomics in cancer care. Findings: Cancer is now known to be heterogeneous at the molecular level, with genetic and genomic factors underlying the etiology of all cancers. Understanding how these factors contribute to the development and treatment of both sporadic and hereditary cancers is important in cancer risk assessment, prevention, diagnosis, treatment, and long-term management and surveillance. Conclusions: Rapidly developing advances in genetics-genomics are changing all aspects of cancer care, with implications for nursing practice. Clinical Relevance: Nurses can educate cancer patients and their families about genetic-genomic advances and advocate for use of evidence-based genetic-genomic practice guidelines to reduce cancer risk and improve outcomes in cancer management. © 2013 Sigma Theta Tau International.

Report of cerebellar hypoplasia in three calves

Hereditary or acquired cerebellar hypoplasia (CH) is commonly diagnosed in Holstein, Guernsey, Shorthorn and Jersey cattle. Bovine viral diarrhea (BVD) has been associated to acquired CH due to viral infection during the second trimester of pregnancy. Stricken calf usually shows ataxia, hypermetria, opisthotonus, intentional tremor and wide-based stance when in standing position. Three newborn calves were referred to the FCAV/Unesp Veterinary Teaching Hospital because of neurological distress. The clinical presentation, similar in all cases, indicated CH. Two weeks later, clinical signs did not improve and euthanasia was performed. Macroscopic examination revealed a gelatinous serosanguineous fluid over the brain surface and within the cervical spinal canal. Histologically the cerebellum had disorganization of the internal granular layer and moderate disappearance of Purkinje cells. The observed clinical signs and nervous tissue lesions were consistent with congenital cerebellar syndrome, possibly associated to viral infection during fetal development. Despite CH has been assumed to be related to BVD, blue tongue and Akabane viruses, only the BVD etiology has been already identified in Brazil.