A Nine-Year-Old Girl With Left Ventricle Non-Compaction and Skin Lesions (Carvajal Syndrome)

Introduction: Arrhythmogenic right ventricular dysplasia (ARVD), a cardiomyopathy characterized by fibrofatty degeneration of the myocardium with progressive dysfunction, electrical instability, and sudden death, occurs in approximately 1 in 5000 people in the United States. Case Presentation: We present a nine-year-old girl complaining of dyspnea, easy fatigability and skin lesions. She had a history of an occasional epistaxis and weakness since 20 days before her admission, accompanied by the symptoms and signs of common cold, specially cough, during the last two days. Conclusions: This case does confirm that dilated cardiomyopathy’s spectrum is wider than ever known and that like what happened at the congress of Boston in 2006, a more comprehensive approach to its genetic types needs to be done.

Analysis of only 0-1 min clip or 1-4 min Clip for focal liver lesions during contrast-enhanced ultrasonography

Purpose: To evaluate the reliability of analysis of only 0-1min clips and 1-4min clips versus the entire clips in performing contrast-enhanced ultrasonography (CEUS) of focal liver lesions (FLLs). Methods: Contrast-enhanced ultrasonography (CEUS) examinations of 43 single FLLs were performed. All clips were analyzed in three ways, the entire clips, 0-1 min clips and 1-4 min clips, benign or malignant diagnosis and pathological diagnosis of each FLL were concluded by the three ways subsequently. Results: The results of correct diagnosis were assessed using Chi-square test. There was no difference with regard to benign or malignant diagnosis, between 0-1min clips and the entire clips, or between 1-4 min clips and the entire clips (p = 0.243 and p = 0.747, respectively). Moreover, no significant differences in pathological diagnosis existed between 0-1min clips and the entire clips, and 1- 4min clips versus entire clips (p=0.808 and p = 0.808, respectively). No significant differences existed among CEUS entire clip, 0-1min clip and 1-4min clip in identifying FLLs, and based on which the diagnosis of two different FLLs during CEUS with only one injection of contrast agent can be available. Conclusion: Only 0-1min clips or 1-4 min clips can be used to instead of the entre clip in performing CEUS of FLLs.

Clinical diagnosis and management of suspicious pigmented skin lesions: A survey of GPs

BACKGROUND The ability of general practitioners to make important clinical decisions about the diagnosis and management of skin lesions is poorly understood.METHODS A questionnaire on the diagnosis and management of eight photographed skin lesions was sent to 150 GPs in southeast Queensland.RESULTS The questionnaire was completed by 114 GPs (response rate 77%). General practitioners’ provisional diagnoses and management of photographed skin lesions were mostly or always correct, and there was general high consistency between diagnosis and intended management. Pigmented seborrhoeic keratoses were the most difficult lesions for GPs to diagnose correctly. Whether a lesion was different to usual moles appears to have the strongest association with clinical diagnosis.DISCUSSION The high ability of GPs as measured in this artificial study is encouraging. The strong association between identifying moles that appear different to usual and correct clinical diagnoses suggest that unless GPs can increase the number of skin lesions they see as part of their typical workload, their clinical ability may not increase further. Article in Australian family physician 34(1) · January 2005

Multi-Etiological Nature of Tuberculosis-Like Lesions in Condemned Pigs at the Slaughterhouse.

Tuberculosis-like lesions (TBL) in pigs have been associated with microorganisms other than mycobacteria. In this work a histopathological and microbiological evaluation of TBL in pigs is shown. A total of 352 samples belonging to 171 pigs totally condemned at slaughterhouse due to generalized TBL were sampled and selected for analysis. Pyogranulomatous (56.2%) and granulomatous lesions (20.2%) were observed in all analysed organs. Most of the granulomas observed in both lymph nodes and lungs belonged to more advanced stages of development (stages III and IV) whereas in the liver and the spleen most of lesions belonged to intermediate stages (stages II and III). Different microorganisms were simultaneously detected from TBL in the 42.7% of the animals. Mycobacterium tuberculosis complex (MTC) (38%), coryneform bacteria (40.3%) and streptococci (28.1%) were the main groups of microorganisms detected after bacteriological analysis, with Trueperella pyogenes and Streptococcus suis as the most frequently isolated species. Mycobacteria belonging to MTC were the most frequently detected pathogens in granulomatous and pyogranulomatous lesions in submandibular lymph nodes (32.7%) and coryneform bacteria were the microorganisms more frequently isolated from lungs (25.9%) and spleen samples (37.2%). These results may provide new insights into the pathogenesis and diagnosis of this pathology. The importance of coryneform bacteria and streptococci in such processes must be evaluated in future studies.

Evaluation of five commercial methods for the extraction and purification of DNA from human faecal samples for downstream molecular detection of the enteric protozoan parasites Cryptosporidium spp., Giardia duodenalis, and Entamoeba spp

High quality, pure DNA is required for ensuring reliable and reproducible results in molecular diagnosis applications. A number of in-house and commercial methods are available for the extraction and purification of genomic DNA from faecal material, each one offering a specific combination of performance, cost-effectiveness, and easiness of use that should be conveniently evaluated in function of the pathogen of interest. In this comparative study the marketed kits QIAamp DNA stool mini (Qiagen), SpeedTools DNA extraction (Biotools), DNAExtract-VK (Vacunek), PowerFecal DNA isolation (MoBio), and Wizard magnetic DNA purification system (Promega Corporation) were assessed for their efficacy in obtaining DNA of the most relevant enteric protozoan parasites associated to gastrointestinal disease globally. A panel of 113 stool specimens of clinically confirmed patients with cryptosporidiosis (n = 29), giardiasis (n = 47) and amoebiasis by Entamoeba histolytica (n = 3) or E. dispar (n = 10) and apparently healthy subjects (n = 24) were used for this purpose. Stool samples were aliquoted in five sub-samples and individually processed by each extraction method evaluated. Purified DNA samples were subsequently tested in PCR-based assays routinely used in our laboratory. The five compared methods yielded amplifiable amounts of DNA of the pathogens tested, although performance differences were observed among them depending on the parasite and the infection burden. Methods combining chemical, enzymatic and/or mechanical lysis procedures at temperatures of at least 56 °C were proven more efficient for the release of DNA from Cryptosporidium oocysts.

Effect of seasons on enteric methane emissions from cattle grazing Urochloa brizantha.

Abstract: The objective of this study was to evaluate the effect of seasons under a tropical climate on forage quality, aswell the effect of an Urochloa brizantha cv. Marandu grazing system on enteric methane (CH4) emissions fromNellore cattle in the Southeast region of Brazil. Sixteen Nellore steers (18 months old and initial weight 318.0 ± 116.59 kg of LW; final weight 469 ± 98.50 kg of LW) were used for a trial period of 10 months, with four collection periods in winter (August), spring (December), summer (February) and autumn (May). Each collection period consisted of 28 days, corresponding to the representative month of each season where the last six days were designed for methane data collection. Animals were randomly distributed within 16 experimental plots, distributed in four random blocks over four trial periods. CH4 emissions were determined using the sulphur hexafluoride (SF6) tracer gas technique measured by gas chromatography and fluxes of CH4 calculated. The forage quality was characterized by higher CP and IVDMD and lower lignin contents in spring, differing specially from winter forage. Average CH4 emissions were between 102.49 and 220.91 g d-1 (37.4 to 80.6 kg ani-1 yr-1); 16.89 and 30.20 g kg-1 DMI; 1.35 and 2.90 Mcal ani-1 d-1; 0.18 and 0.57 g kg-1 ADG-1 and 5.05 and 8.76% of GE. Emissions in terms of CO2 equivalents were between 4.68 and 14.22 g CO2-eq-1 g-1 ADG. Variations in CH4 emissions were related to seasonal effect on the forage quality and variations in dry matter intake.

Interspecies study of the enteric nervous system and related pathologies

The enteric nervous system (ENS) modulates a number of digestive functions including well known ones, i.e. motility, secretion, absorption and blood flow, along with other critically relevant processes, i.e. immune responses of the gastrointestinal (GI) tract, gut microbiota and epithelial barrier . The characterization of the anatomical aspects of the ENS in large mammals and the identification of differences and similarities existing between species may represent a fundamental basis to decipher several digestive GI diseases in humans and animals. In this perspective, the aim of the present thesis is to highlight the ENS anatomical basis and pathological aspects in different mammalian species, such as horses, dogs and humans. Firstly, I designed two anatomical studies in horses:  “Excitatory and inhibitory enteric innervation of horse lower esophageal sphincter”.  “Localization of 5-hydroxytryptamine 4 receptor (5-HT4R) in the equine enteric nervous system”. Then I focused on the enteric dysfunctions, including:  A primary enteric aganglionosis in horses: “Extrinsic innervation of the ileum and pelvic flexure of foals with ileocolonic aganglionosis”.  A diabetic enteric neuropathy in dogs: “Quantification of nitrergic neurons in the myenteric plexus of gastric antrum and ileum of healthy and diabetic dogs”.  An enteric neuropathy in human neurological patients: “Functional and neurochemical abnormalities in patients with Parkinson's disease and chronic constipation”. The physiology of the GI tract is characterized by a high complexity and it is mainly dependent on the control of the intrinsic nervous system. ENS is critical to preserve body homeostasis as reflect by its derangement occurring in pathological conditions that can be lethal or seriously disabling to humans and animals. The knowledge of the anatomy and the pathology of the ENS represents a new important and fascinating topic, which deserves more attention in the veterinary medicine field.

Advanced studies on two animal models, murine and fish. RadKI21A626T mouse model: new insights into molecular mechanisms of enteric neuro-epithelial pathology. European sea bass: study of the effects of essential oils in different diets on the gastric system.

My PhD research period was focused on the anatomical, physiological and functional study of the gastrointestinal system on two different animal models. In two different contexts, the purpose of these two lines of research was contribute to understand how a specific genetic mutation or the adoption of a particular dietary supplement can affect gastrointestinal function. Functional gastrointestinal disorders are chronic conditions characterized by symptoms for which no organic cause can be found. Although symptoms are generally mild, a small subset of cases shows severe manifestations. This subset of patients may also have recurrent intestinal sub-occlusive episodes, but in absence of mechanical causes. This condition is referred to as chronic intestinal pseudo-obstruction, a rare, intractable chronic disease. Some mutations have been associated with CIPO. A novel causative RAD21 missense mutation was identified in a large consanguineous family, segregating a recessive form of CIPO. The present thesis was aimed to elucidate the mechanisms leading to neuropathy underlying CIPO via a recently developed conditional KI mouse carrying the RAD21 mutation. The experimental studies are based on the characterization and functional analysis of the conditional KI Rad21A626T mouse model. On the other hand aquaculture is increasing the global supply of foods. The species selected and feeds used affects the nutrients available from aquaculture, with a need to improve feed efficiency, both for economic and environmental reasons, but this will require novel innovative approaches. Nutritional strategies focused on the use of botanicals have attracted interest in animal production. Previous research indicates the positive results of using essential oils (EOs) as natural feed additives for several farmed animals. Therefore, the present study was designed to compare the effects of feed EO supplementation in two different forms (natural and composed of active ingredients obtained by synthesis) on the gastric mucosa in European sea bass.

Diagnostica anatomopatologica nelle malattie infettive del suino: co-localizzazione agenti patogeni e lesioni, limiti ed utilità

Il processo di intensificazione dell’allevamento suinicolo ha comportato conseguenze importanti dal punto di vista sanitario. Nei moderni sistemi di produzione la salute è compromessa a causa di malattie multifattoriali e l'identificazione degli agenti casuali di malattia non può basarsi esclusivamente sul risultato di un unico test diagnostico. La maggior parte dei patogeni è ubiquitaria, quindi l'identificazione di un agente infettivo suggerisce solo una possibile diagnosi. La patologia gioca un ruolo chiave nel determinare la causalità nella diagnosi delle malattie infettive. L'istopatologia consente di correlare la presenza dell'agente infettivo con le lesioni microscopiche caratteristiche: in base alla disponibilità di anticorpi o sonde per rilevare rispettivamente la presenza di antigeni o del genoma di virus o batteri nelle sezioni istologiche, l'istopatologia è utile per determinare il nesso causale con la malattia. L'introduzione di questa tesi è incentrata sulla discussione del ruolo della patologia nelle malattie infettive del suino, seguita dalla descrizione del corretto campionamento per l'esame istopatologico nella diagnosi delle malattie respiratorie, enteriche e riproduttive. La sezione sperimentale riporta i risultati delle indagini diagnostiche in patologia suina condotte per definire il ruolo di PCV2 e PRRSV nel complesso delle malattie respiratorie del suino (PRDC)(capitolo 2) e per definire un percorso diagnostico per l'enteropatia proliferativa suina causata da Lawsonia intracellularis ai fini dell'implementazione dell'accuratezza diagnostica (capitolo 3). Il capitolo 4 descrive l'uso dell'istopatologia come componente metodologica essenziale per valutare l'efficacia protettiva dei vaccini negli studi di challenge vaccinazione-infezione. Il capitolo descrive i risultati ottenuti in due successive sperimentazioni per valutare l'efficacia di due vaccini sperimentali per PCV2, il primo formulato con ceppo PCV2b inattivato somministrato a differenti dosi di antigene; il secondo formulato con antigene "Cap" ricombinante non assemblato in particelle simil-virali (VLP).

The Clinical Impact Of Cerebellar Grey Matter Pathology In Multiple Sclerosis.

The cerebellum is an important site for cortical demyelination in multiple sclerosis, but the functional significance of this finding is not fully understood. To evaluate the clinical and cognitive impact of cerebellar grey-matter pathology in multiple sclerosis patients. Forty-two relapsing-remitting multiple sclerosis patients and 30 controls underwent clinical assessment including the Multiple Sclerosis Functional Composite, Expanded Disability Status Scale (EDSS) and cerebellar functional system (FS) score, and cognitive evaluation, including the Paced Auditory Serial Addition Test (PASAT) and the Symbol-Digit Modalities Test (SDMT). Magnetic resonance imaging was performed with a 3T scanner and variables of interest were: brain white-matter and cortical lesion load, cerebellar intracortical and leukocortical lesion volumes, and brain cortical and cerebellar white-matter and grey-matter volumes. After multivariate analysis high burden of cerebellar intracortical lesions was the only predictor for the EDSS (p<0.001), cerebellar FS (p = 0.002), arm function (p = 0.049), and for leg function (p<0.001). Patients with high burden of cerebellar leukocortical lesions had lower PASAT scores (p = 0.013), while patients with greater volumes of cerebellar intracortical lesions had worse SDMT scores (p = 0.015). Cerebellar grey-matter pathology is widely present and contributes to clinical dysfunction in relapsing-remitting multiple sclerosis patients, independently of brain grey-matter damage.

Antiangiogenic And Finasteride Therapies: Responses Of The Prostate Microenvironment In Elderly Mice.

The aim of this study was to evaluate the structural and molecular effects of antiangiogenic therapies and finasteride on the ventral prostate of senile mice. 90 male FVB mice were divided into: Young (18 weeks old) and senile (52 weeks old) groups; finasteride group: finasteride (20mg/kg); SU5416 group: SU5416 (6 mg/kg); TNP-470 group: TNP-470 (15 mg/kg,) and SU5416+TNP-470 group: similar to the SU5416 and TNP-470 groups. After 21 days, prostate ventral lobes were collected for morphological, immunohistochemical and Western blotting analyses. The results demonstrated atrophy, occasional proliferative lesions and inflammatory cells in the prostate during senescence, which were interrupted and/or blocked by treatment with antiangiogenic drugs and finasteride. Decreased AR and endostatin reactivities, and an increase for ER-α, ER-β and VEGF, were seen in the senile group. Decreased VEGF and ER-α reactivities and increased ER-β reactivity were verified in the finasteride, SU5416 groups and especially in SU5416+TNP-470 group. The TNP-470 group showed reduced AR and ER-β protein levels. The senescence favored the occurrence of structural and/or molecular alterations suggesting the onset of malignant lesions, due to the imbalance in the signaling between the epithelium and stroma. The SU5416+TNP-470 treatment was more effective in maintaining the structural, hormonal and angiogenic factor balance in the prostate during senescence, highlighting the signaling of antiproliferation via ER-β.

Endoscopic Endonasal Transsphenoidal Resection Of Pituitary Adenomas: Preliminary Evaluation Of Consecutive Cases.

Endoscopic endonasal transsphenoidal surgery has gained increasing acceptance by otolaryngologists and neurosurgeons. In many centers throughout the world, this technique is now routinely used for the same indications as conventional microsurgical technique for pituitary tumors. To present a surgical experience of consecutive endoscopic endonasal trans-sphenoidal resections of pituitary adenomas. In this study, consecutive patients with pituitary adenomas submitted to endoscopic endonasal pituitary surgery were evaluated regarding the rate of residual tumor, functional remission, symptoms relief, complications, and tumor size. Forty-seven consecutive patients were evaluated; 17 had functioning adenomas, seven had GH producing tumors, five had Cushing's disease, and five had prolactinomas. Of the functioning adenomas, 12 were macroadenomas and five were microadenomas; 30 cases were non-functioning macroadenomas. Of the patients with functioning adenomas, 87% improved. 85% of the patients with visual deficits related to optic nerve compression progressed over time. Most of the patients with complaints of headaches improved (76%). Surgical complications occurred in 10% of patients, which included with two carotid lesions, two cerebrospinal fluid leaks, and one death of a patient with a previous history of complications. Endoscopic endonasal pituitary surgery is a feasible technique, yielding good surgical and functional outcomes, and low morbidity.