Multiple oral and cerebral relapses of a Granular cell tumor (Abrikossoff Tumor) in a young girl affected by congenital dyserythropoietic anemia type II.

CASE REPORT: A 14-year-old girl presented with 1 cm large whitened lesion on the ventral surface of the tongue, appeared from 1 month. Past history showed congenital dyserythropoietic anemia type II. The lesion was excised and microscopic and immunohistochemical analyses were compatible with benign Abrikossoff tumor. Total body MRI was negative. After six months the patient presented a second tongue lesion and four months later another large painful lesion in the soft palate, with the same istological diagnosis. In addition, she had other multiple lesions: two apperead at pharyngeal level (not biopsied) that remain stable over time, and one at the pituitary gland. CONCLUSION: Granular cell tumors, with or without multiple lesions, are rare in children. About 50% of cases involve the head and neck region, with the tongue being the most affected site. Therapy is based on the surgical excision of the lesions; however some tumor forms, although their histological aspect of benignity, often have an important infiltrative power, making the therapeutic approach difficult, as in our case.

Extramedullary hematopoiesis in the facial sinus in a patient homozygous for Hemoglobin Lepore: the first case in literature.

Extramedullary hematopoiesis (EMH) is a proliferation of hematopoietic tissue outside the bone marrow. The most affected areas are paravertebral ones. We report the case of a patient with homozygous Hb Lepore, not regularly transfused since the age of four years until the age of 29 years, when paravertebral heterotopic masses were first observed. After about 10 years she started reporting clinical signs suggestive of sinusitis. Computed tomography (CT) and Magnetic Resonance Imaging (MRI) showed heterotopic masses in the ethmoid and in the frontal sinuses. Involvement of the sinuses of the large facial area represents a rare localization of EMH. Various cases have been reported in patients with thalassemia intermedia, but no case has been reported with HbLepore. The diagnostic gold standard is MRI, which provides highly accurate and clear images. The treatment is based on hydroxyurea and/or an intensive transfusional regime and sometimes on surgery.

The Italian version of the Unité Rhumatologique des Affections de la Main (URAM) for Dupuytren's disease: The URAM-I(10).

Introduction: Several general hand functional assessment tools for Dupuytren's disease have been reported, but none of the patient-reported-outcome measures specific to Dupuytren's disease-associated disabilities are available in the Italian language. The purpose of this study was to culturally adapt the Unité Rhumatologique des Affections de la Main (URAM) into Italian (URAM-I) and determine its measurement properties. Methods: Cross-cultural adaptation was performed according to the current guidelines. Construct validity (convergent and divergent validity) was measured by comparing the URAM-I with the Pain-Rated Wrist/Hand Evaluation (PRWHE-I), Short-Form 36 (SF-36-I) scale and finger range of motion, respectively. Factor analysis was used to investigate the URAM-I's internal structure. Reliability was assessed by internal consistency (Cronbach's alpha) and test-retest reliability by Intra-Class Correlation Coefficient (ICC). Results: This study included 96 patients (males = 85%, age = 66.8 ± 9.3). Due to the cultural adaptation, we divided the original item #1 into two separate items, thus generating the URAM-I(10). Convergent validity analysis showed a strong positive (r = 0.67), significant (p < 0.01) Pearson's correlation with the PRWHE-I. Divergent validity analysis showed a weak, negative (r < 0.3) and not significant correlation with the SF-36-I subscales, except for the physical pain subscale (r = -0.21, p < 0.05). Factor analysis revealed a 2-factor, 4-item solution that explained 76% of the total variance. The URAM-I(10) demonstrated high internal consistency (α = 0.94) and high test-retest reliability (ICC = 0.97). Conclusion: The URAM-I(10) demonstrates moderate construct validity, high internal consistency and test-retest reliability, and showed a 2-factor internal structure. Its evaluative use can be suggested for the Italian Dupuytren's population.

Dynamics of antibiotic resistance genes and presence of putative pathogens during ambient temperature anaerobic digestion.

AIMS: This study was focused on evaluating the persistency of antimicrobial resistance (AR) genes and putative pathogenic bacteria in an anaerobic digesters operating at mesophilic ambient temperature, in two different year seasons: summer and winter. METHODS AND RESULTS: Abundance and dynamic of AR genes encoding resistance to macrolides (ermB), aminoglycosides (aphA2) and beta-lactams (blaTEM -1 ) and persistency of potentially pathogenic bacteria in pilot-scale anaerobic digesters were investigated. AR genes were determined in the influent and effluent in both conditions. Overall, after 60 days, reduction was observed for all evaluated genes. However, during the summer, anaerobic digestion was more related to the gene reduction as compared to winter. Persistency of potentially pathogenic bacteria was also evaluated by metagenomic analyses compared to an in-house created database. Clostridium, Acinetobacter and Stenotrophomonas were the most identified. CONCLUSIONS: Overall, considering the mesophilic ambient temperature during anaerobic digestion (summer and winter), a decrease in pathogenic bacteria detection through metagenomic analysis and AR genes is reported. Although the mesophilic anaerobic digestion has been efficient, the results may suggest medically important bacteria and AR genes persistency during the process. SIGNIFICANCE AND IMPACT OF THE STUDY: This is the first report to show AR gene dynamics and persistency of potentially pathogenic bacteria through metagenomic approach in cattle manure ambient temperature anaerobic digestion.

Digestibilidade da matéria seca de silagens de milho e de suplementos concentrados determinada por procedimentos in vitro / Dry matter digestibility of corn silages and concentrates determined by in vitro procedures

Compararam-se os valores de digestibilidade in vitro da matéria seca (DIVMS) de quatro silagens de milho e de seis concentrados (três proteicos e três energéticos), determinados pelo método de dois estádios realizados em tubos individuais ou em equipamento automatizado de fermentação, e avaliou-se a ocorrência de efeito associativo na digestão de alimentos destas três classes incubadas em um mesmo jarro de fermentação da incubadora in vitro, ou em jarros diferentes contendo a mesma classe de alimentos. Utilizou-se delineamento inteiramente ao acaso, em esquema fatorial 3 x 3 (procedimentos in vitro x classes de alimentos). Os valores de DIVMS determinados pelo método dos tubos foram mais próximos dos relatados na literatura e menores (P<0,02) que os obtidos pelos procedimentos automatizados. Não houve diferença (P>0,05) nos valores de DIVMS dos concentrados e das silagens de milho incubados no mesmo jarro de fermentação da incubadora ou, separadamente por alimento, em jarros diferentes.

The values of in vitro dry matter digestibility (IVDMD) of four corn silages and six concentrates (three proteic and three energetics) were determined by the two-stage technique that utilizes individual digestion tubes and by an automatic equipment of fermentation (filter bag technique). It was also evaluated the associative effect on digestion of these three food classes when incubated in the same fermentation jar of the "in vitro incubator" and when in different vessels containing the same class of foods. The experimental design was completely randomized in a 3 x 3 factorial arrangement (in vitro procedures x food classes). The IVDMD values determined in tubes were closer to those found in the literature and lower (P<0.02) than those obtained by the automatic procedure. No differences were found (P>0.05) in IVDMD of concentrates and silages when incubated together in the same fermentation jar or separated by food classes in separated jars.

Avaliação de ionóforos pela técnica da perda do potássio celular e produção de gases in vitro / Ionophores evaluation by intracellular potassium depletion and in vitro gas production

Dois estudos foram realizados com vacas lactantes utilizadas como unidade experimental e doadoras de líquido ruminal, sendo as populações de bactérias utilizadas para avaliar a ação de níveis crescentes de lasalocida e monensina na resistência à perda de potássio intracelular, e para produção de gases in vitro. A perda de potássio (Kmax) da lasalocida foi menor para a população de bactérias obtidas do líquido de rúmen de vacas submetidas a dietas com monensina, óleo de soja e monensina mais óleo de soja (19,4 a 25,4 por cento) quando comparada com a perda de potássio em vacas submetidas a dietas sem ionóforo e óleo de soja (30,1 por cento). O mesmo ocorreu para a perda de potássio da monensina, em que o menor valor foi de 6,5 por cento para monensina mais óleo e o maior, de 29,5 por cento, para o controle. Necessita-se de alta concentração de monensina (Kd= 2,3µM), porém baixa de lasalocida (Kd= 0,2µM) para causar a metade da perda máxima de potássio intracelular da população de bactérias do rúmen de vacas submetidas a dietas com monensina. As populações de bactérias de vacas submetidas às dietas com monensina foram sensíveis à lasalocida. As amostras incubadas com própolis produziram menor volume de gases (12,9ml/100g de MS)

Two studies were carried out with lactating cows as experimental units and ruminal fluid donors. The ruminal bacteria population was used to evaluate the action of increasing levels of lasalocid and monensin on resistance of intracellular potassium depletion and in vitro gas production intracellular depletion potassium (Kmax) of lasalocid was lower to ruminal bacteria population obtained from rumen of cows fed diets with monensin, soybean oil and monensin plus soybean oil (19.4 to 25.4 percent) when compared to cows fed with control diet (30.1 percent). The same occurred for intracellular depletion potassium (Kmax) of monensin, in which the lowest value was 6.5 percent to monensin plus soybean oil and the greatest was 29.5 percent to control. High monensin concentration (Kd= 2.3µM) and low lasalocid concentration (Kd= 0.2µM) were necessary to cause half of maximum potassium depletion in ruminal bacteria population from cows fed diet with monensin. The ruminal bacteria population from cows feed diet with monensin were sensible to lasalocid. In vitro gas production showed the lowest volume when diets were incubated with propolis (12,9ml/100g of DM)

Magnetic resonance imaging in the diagnosis of melanoma: in vivo preliminary studies with dynamic contrast-enhanced subtraction.

The aim of this study was to analyse the potential of fast dynamic subtraction magnetic resonance (MR) imaging in differentiating in vivo melanomas from benign melanocytic lesions. Dynamic MR imaging was performed after intravenous administration of gadopentetate dimeglumine (Gd-DTPA) in 18 patients with melanocytic skin lesions. Using a post-processing algorithm, time-signal intensity curves were obtained for the lesions and classified according to their shapes as type I (steady enhancement increase), type II (plateau of signal intensity) or type III (wash-out of signal intensity). Other parameters evaluated for their potential to differentiate melanomas from benign lesions were the enhancement rate (percentage of signal intensity increase) in the first minute after Gd-DTPA administration, the peak value of the enhancement rate, and the wash-out slope. The pigmented lesions were then surgically excised and the MR results compared with the histological assessment. In melanomas, the mean value of the enhancement rate in the first minute was 611%, whereas in benign lesions it was 131% (P = 0.001). The distribution of curve types was also different: seven of the nine naevi showed type I curves, while eight of the nine melanomas displayed a type III curve. In addition, distinctive wash-out dynamics were observed: the enhancement rate began to decrease between the first and third minutes for melanomas, but continued to increase until the sixth minute for naevi (P = 0.000). These findings, which are most likely related to the neoangiogenesis present in melanomas, indicate that dynamic MR imaging can be helpful in the differential diagnosis of pigmented skin lesions.

Efeitos da defaunaçäo em ovinos alimentados com cana-de-açúcar (Saccharum officinarum, L. ) adicionada de uréia / Effects of defaunation in sheep fed sugar cane (Saccharum officinarum, L. ) plus urea

Em delineamento inteiramente ao acaso, estudou-se o efeito da defaunaçäo em ovinos que receberam cana-de-açúcar e uréia sobre o consumo e digestibilidade aparente de nutrientes, dinâmica da fase sólida, parâmetros de fermentaçäo ruminal e de degradaçäo in situ. As taxas de passagem no rúmen foram, respectivamente, de 3,05 e 1,97 por cento/h, para ovinos faunados e defaunados. Valores mais elevados para taxa (5,4 por cento/h) e extensäo (46,7 por cento) da digestäo ruminal e de degradabilidade efetiva da FDN da cana (31,5 por cento) foram obtidos nos ovinos faunados. Seus consumos diários (57,7 e 32,3 g/kg0,75, respectivamente para MS e FDN) foram superiores (P<0,06) aos dos ovinos defaunados. Em funçäo do tempo de amostragem observaram-se maiores (P<0,05) concentrações de AGV total, acetato e propionato para os cordeiros faunados. Nos defaunados ocorreu queda pós-prandial mais acentuada (P<0,04) no pH. Para digestibilidade aparente diferença (P<0,05) entre tratamentos foi verificada apenas para matéria seca

Mutational analysis of OB gene in obese and type 2 diabetes affected subjects.

Peripheral blood DNA from 12 subjects affected by familial obesity and from 35 subjects affected by type 2 diabetes were analysed for mutations in the coding sequence of the OB gene. Mutational analysis, conducted using the single strand conformation polymorphism (SSCP) technique, followed by direct sequencing did not reveal the presence of nucleotide variants in the coding region of the OB gene. The lack of mutations in the coding sequence is consistent with previous data suggesting that mutations in the coding sequence of the OB gene are not common in human familial obesity. In 2 samples displaying a non-informative pattern of SSCP and in 8 additional samples the nucleotide sequence of portion of the intron 2 bordering the coding sequence of exon 2 identified a G in the positions +14IVS and +18IVS, according to a sequence reported previously, but in contrast with some others. All samples were homozygous for these intron variants.

Transcripts with splicings of exons 15 and 16 of the hMLH1 gene in normal lymphocytes: implications in RNA-based mutation screening of hereditary non-polyposis colorectal cancer.

Germline mutations of the hMLH1 gene are estimated to account for a large fraction of kindreds affected by hereditary non-polyposis colorectal cancer (HNPCC). In a significant number of cases, hMLH1 mutations result in the expression of truncated proteins. We report here two novel alternatively spliced forms of hMLH1 mRNA in normal lymphocytes. One of these novel isoforms lacks the coding region of the gene between codons 557 and 578, corresponding to the entire exon 15. The deletion introduces a frameshift that results in a premature stop signal. The other isoform is characterised by an in-frame deletion spanning codons 578-632, corresponding to loss of the entire exon 16. Further studies are necessary to establish the biological significance of these alternative splicings. The presence of alternatively spliced hMLH1 transcripts that mimic pathogenic mutations should be taken into account in the mutational screening of the hMLH1 gene by reverse transcription-polymerase chain reaction methodologies.

[Villous-lipomatous proliferation of synovial membrane of the knee (lipoma arborescens). Magnetic resonance findings]. / Proliferazione villo-lipomatosa della membrana sinoviale del ginocchio (lipoma arborescente). Aspetti con Risonanza Magnetica.

PURPOSE: We reviewed the imaging patterns of the villous-lipomatous proliferation of the knee synovial membrane (lipoma arborescens), with special reference to the role of MRI in the diagnosis of this rare condition. MATERIAL AND METHODS: 1994 to 1996, we examined four patients, none of them with a history of knee trauma. The clinical picture was characterized by moderate and painful suprapatellar swelling in three cases and by moderate suprapatellar swelling alone in one case. All patients were examined with conventional radiography and MRI; two were submitted to US and two to CT. The diagnosis of lipoma arborescens was suggested on the basis of imaging patterns and then confirmed by histologic findings. RESULTS: Conventional radiography showed a roughly oblong slim opacity in the suprapatellar recess in all cases; the joint space was always preserved. US showed a villous lesion surrounded by fluid, but provided no specific data on its nature. CT and MRI not only provided better location and morphologic detailing and showed the relationships with articular structures better, but also permitted the direct identification of the fat nodules within the abnormal synovial reaction. CONCLUSION: We stress the role of MRI in suggesting the correct diagnosis of lipoma arborescens, as it was subsequently confirmed in our series by histologic findings. In fact, fat-suppression sequences, after T1-weighted SE, can typify fat tissue.

Novel allele of the insulin receptor substrate-1 bearing two non-conservative amino acid substitutions in a patient with noninsulin-dependent diabetes mellitus. Mutations in brief no. 130. Online.

We analyzed by SSCP the complete IRS-1 coding sequence in NIDDM patient #25 D. Unique conformers corresponding to a Ser to Tyr substitution at codon 1043 (S1043Y), and to a Cys to Tyr substitution at codon 1095 (C1095Y) were detected in this patient. The results of sequential digestion with restriction enzymes indicated that the novel sequence variants segregate on the same allele. Relatives of patient #25 D were not available for study, to confirm segregation of the novel allele with NIDDM in the family. Several lines of evidence suggest that the non-conservative amino acid substitutions detected in NIDDM patient #25 D have the potential to affect IRS-1 functions and could play a pathogenic role in this patient. Both S1043Y and C1095Y occur in a highly conserved sequence from human skeletal muscle, human hepatoma, mouse, and rat IRS-1. Protein subsequence analysis revealed that the S1043Y substitution abolishes a consensus sequence for glycogen synthase kinase 3 phosphorylation. Furthermore, S1043Y and C1095Y are not common IRS-1 polymorphisms as they were detected only in 1/136 choromosomes from NIDDM patients (allele frequency in NIDDM patients = 0.0007) and in 0/120 chromosomes from control subjects.

["Occult" posttraumatic lesions of the knee: can magnetic resonance substitute for diagnostic arthroscopy?]. / Lesioni "occulte" post-traumatiche del ginocchio: può la Risonanza Magnetica sostituire l'artroscopia diagnostica?

PURPOSE: We investigated the actual role of MRI versus arthroscopy in the detection and characterization of occult bone and/or cartilage injuries in patients with previous musculoskeletal trauma of the knee, pain and severe functional impairment. Occult post-traumatic osteochondral injuries of the knee are trauma-related bone and/or cartilage damage missed at plain radiography. MATERIAL AND METHODS: We retrospectively selected 70 patients (men:women = 7:3; age range: 35 +/- 7 years) with a history of acute musculoskeletal trauma, negative conventional radiographs, pain and limited joint movements. All patients were submitted to conventional radiography, arthroscopy and MRI, the latter with 0.5 T units and T1-weighted SE. T2-weighted GE and FIR sequences with fat suppression. RESULTS AND DISCUSSION: We identified three types of occult post-traumatic injuries by morpho-topographic and signal intensity patterns: bone bruises (no. 25), subchondral (no. 33) and osteochondral (no. 35) injuries. Arthroscopy depicted 45 osteochondral and 19 chondral injuries. A bone bruise was defined as a typical subcortical area of signal loss, with various shapes, on T1-weighted images and of increased signal intensity on T2-weighted and FIR images. The cortical bone and articular cartilage were normal in all cases, while osteochondral injuries exhibited associated bone and cartilage damage with the same abnormal MR signal intensity. Sprain was the mechanism of injury in 52 cases, bruise in 12 and stress in 6. In 52 sprains (30 in valgus), the injury site was the lateral compartment in 92.3% of cases (100% in valgus), associated with meniscal damage in 73% of cases (90% in valgus) and with ligament injury in 90.4% (100% in valgus). In 12 bruises, the injury site was the lateral compartment in 58.3% of cases, the knee cap in 25% and the medial compartment in 16.7%; meniscal damage was associated in 25% of cases and ligament damage in 8.3%. In 6 stress injuries, the injury site was localized in the medial tibial condyle in 80% of cases, while meniscal and ligament tears were absent. CONCLUSIONS: After comparing MR with arthroscopic findings and reviewing the available literature, we conclude that arthroscopy permits the direct visualization of even fine articular surface changes but does not depict the subchondral bone, the most frequent site of injury detected with MRI. MRI was a very useful tool in the detection and characterization of the different types of occult bone and/or cartilage injuries and showed a statistically significant correlation between site and distribution of bone and cartilage injuries and between internal damage and trauma mechanisms. Therefore, we believe that MRI can help avoid diagnostic arthroscopy in the patients with a history of post-traumatic pain, acute articular blocks and negative radiographic findings.

Avaliaçäo dos ciliados do rúmen de bovinos mantidos com duas dietas / Evaluation of rumen ciliate in the rumen of cattle kept with two diets

Foram obtidas 26 amostras de conteúdo ruminal de dois novilhos fistulados para avaliaçäo dos protozoários do rúmen. Um animal foi mantido com dieta à base de cana-de-açúcar + 1 por cento de uréia (D1) e o outro com capim elefante (D2). Registraram-se ciliados dos gêneros Entodinium Stein, 1859, Isotricha Stein, 1859, Dasytricha Schuberg, 1888, Epidinium Crawley, 1923 e outros da subfamília Diplodiinae, näo se constantando Epidinium em D1. O total de ciliados em D1 foi de 18,12 x 10 elevado à quarta potência/ml e em D2 de 7,35 x 10 elevado à quarta potência/ml. A concentraçäo média de ciliados nos tempos T0, T2 e T5, respectivamente, antes da alimentaçäo, duas e cinco horas após, foi respectivamente de 18,90 x 10 elevado à quarta potência/ml, 17,96 x 10 elevado à quarta potência/ml e 16,24 x 10 elevado à quarta potência/ml para D1 e de 8,04 x 10 elevado à quarta potência/ml e 8,04 x 10 elevado à quarta potência/ml, 7,56 x 10 elevado à quarta potência/ml e 6,43 x 10 elevado à quarta potência/ml de conteúdo ruminal para D2. Os testes do qui-quadrado e T de Student a um nível de significância de 5 por cento, demonstraram diferença significativa do total de ciliados entre as dietas testadas em todos os tempos analisados

Toxidez de cobre em carneiros sem protozoários no rúmen / Copper toxicity in defaunated sheep

Quatro carneiros, sem protozoários no rúmen, receberam dieta com 17 ppm de cobre. Após quatro meses nesta alimentaçäo, um animal morreu e outro foi sacrificado. Aos cinco meses, os outros dois animais morreram. Foram feitas necropsias em dois animais e amostras de fígado foram obtidas para análise de cobre. Os achados mais importantes à necropsia foram: mucosa e pele ictérica; rim com coloraçäo metálica e aumentado de volume, e vesícula com suco biliar de coloraçäo verde. O nível médio de cobre encontrado no fígado foi de 3451 ppm. Tanto os achados de necropsia quanto o nível médio de cobre no fígado säo indicativos de animais apresentando intoxicaçäo por cobre