Upper extremity infection: imaging features with focus on magnetic resonance imaging.

Upper extremity infections are frequently seen, especially in individuals with weakened immune system, posttraumatic events, and after surgery procedures. If not properly treated, such conditions can lead to serious consequences, such as movement impairment, amputation, and even mortality. These infections have the potential to spread extensively from their initial site of entry, traversing interconnected spaces either intra or extra-compartmental. Understanding the relevant anatomy is crucial to assess location and stage of infection, since surgical intervention and intravenous antibiotics are usually required. In this article, the authors provide a comprehensive review of the imaging findings of upper extremity infection, focusing on magnetic resonance imaging (MRI). Furthermore, this article sheds light on the pivotal role of radiology in managing hand, elbow, and shoulder infections offering an overview of available treatment options. KEY FINDINGS: Various types of infections affecting the upper extremity will be discussed, including infectious tenosynovitis, deep space infections, septic arthritis, and osteomyelitis. Authors also highlight anatomical spaces, common pathogens, spread routes, and key radiological features of these conditions.

Service organization protocol for coping with undergraduate students' psychological distress: a collective construction / Protocolo de organización de servicios para el enfrentamiento del malestar psicológico de estudiantes universitarios: una construcción colectiva / Protocolo de organização de serviço para enfrentamento do sofrimento psíquico de universitários: uma construção coletiva

ABSTRACT Objective: to report on the experience of the elaboration process of a service organization protocol for coping with public undergraduate students' psychological distress in the countryside of São Paulo. Method: experience report on protocol production, an action research product, carried out according to the health care and service organization protocol model, made possible by remote meetings with 33 professionals linked to the management and services of the university's health and social assistance departments. Results: collective protocol production provided an opportunity for an institutional agreement on educational, therapeutic and support actions, to be developed in groups or individually with students, with provision for permanent education with civil servants. Final considerations: this experience made it possible to list specific actions to face undergraduate students' psychological distress, bringing health professionals closer to those in management, promoting the exchange of concepts and practices to re-signify and transform the work developed.

RESUMEN Objetivo: relatar la experiencia del proceso de elaboración colectiva de un protocolo de organización de servicios para el enfrentamiento del malestar psicológico de estudiantes de una universidad pública del interior de São Paulo. Método: relato de experiencia sobre la elaboración del protocolo, producto de investigación-acción, realizado según el modelo de protocolo de organización asistencial y de servicios de salud, posibilitado por encuentros a distancia con 33 profesionales vinculados a la gestión y servicios de los departamentos de salud y asistencia sociales universitarios. Resultados: la producción colectiva del protocolo brindó oportunidad para un acuerdo institucional sobre acciones educativas, terapéuticas y de apoyo, a ser desarrolladas en grupo o individualmente con los estudiantes, con previsión de educación permanente con los servidores públicos. Consideraciones finales: esta experiencia permitió enumerar acciones específicas para enfrentar el sufrimiento psíquico de estudiantes universitarios, acercando a los profesionales de la salud a los profesionales de la gestión, promoviendo el intercambio de conceptos y prácticas para resignificar y transformar el trabajo desarrollado.

RESUMO Objetivo: relatar experiência sobre o processo de elaboração coletiva de protocolo de organização de serviço para enfrentamento do sofrimento psíquico de estudantes de universidade pública do interior paulista. Método: relato de experiência da produção do protocolo, produto de pesquisa-ação, realizada conforme modelo de protocolo de cuidado à saúde e de organização de serviço, viabilizada por encontros remotos com 33 profissionais vinculados à gestão e aos serviços dos departamentos de saúde e assistência social da universidade. Resultados: a produção coletiva do protocolo oportunizou a pactuação institucional de ações educativas, terapêuticas e de apoio, para serem desenvolvidas em grupo ou individualmente com os estudantes, sendo previstas as de educação permanente com os servidores. Considerações finais: esta experiência possibilitou elencar ações específicas para o enfrentamento do sofrimento psíquico de estudantes universitários, aproximando profissionais da assistência aos da gestão, promovendo intercâmbio de concepções e práticas para ressignificar e transformar o trabalho desenvolvido.

Bilateral upper extremity myositis after COVID-19 vaccination.

Vaccination adverse reactions are common and usually are represented by transitory pain and edema. We present a case of bilateral muscle edema involving shoulders and arms due to myositis following COVID-19 vaccination, and focus on the imaging findings to differentiate with other diagnosis such as infection and tumors.

Postoperative Imaging of the Rotator Cuff: A Systematic Review and Meta-Analysis.

BACKGROUND. It is unclear which, MRI or ultrasound (US), is the most useful imaging tool to diagnose rotator cuff retears. OBJECTIVE. The objective of this study was to evaluate MRI and US in terms of diagnosing retear of a repaired rotator cuff tendon using a systematic review and meta-analysis. EVIDENCE ACQUISITION. A comprehensive literature search was performed on the main concepts of MRI (including noncontrast MRI and MR arthrography), US, and rotator cuff repairs. Inclusion criteria consisted of original research studies that assessed the diagnostic accuracy of MRI and US (index tests) for the diagnosis of rotator cuff tendon retear after prior rotator cuff repair using surgical findings as the reference standard. QUADAS-2 was used to assess methodologic quality. Meta-analyses were performed to compare MRI and US studies in the diagnosis of all retears and of full-thickness retears. Study variation was analyzed using the Cochran Q test and I2 statistic. EVIDENCE SYNTHESIS. Eight studies (MRI, n = 6; US, n = 2) satisfied inclusion and exclusion criteria, consisting of 304 total patients (MRI, n = 221; US, n = 83) and 309 shoulders (MRI, n = 226; US, n = 83). Years of publication ranged from 1993 to 2006 for the MRI studies and from 2003 to 2018 for the US studies. Two studies had high risk of bias in terms of applicability to clinical practice because of patient selection. Five studies had potential risk of bias in two categories, whereas two had potential risk of bias in three categories. For all retears, mean sensitivity and specificity for MRI were 81.4% (95% CI, 73.3-87.5%) and 82.6% (95% CI, 76.3-87.5%) and 83.7% (95% CI, 67.4-92.7%) and 90.7% (95% CI, 73.6-97.1%) for US. For full-thickness retears, mean sensitivity and specificity for MRI were 85.9% (95% CI, 80.2-90.2%) and 89.1% (95% CI, 84.6-92.4%) and 89.7% (95% CI, 75.6-96.1%) and 91.0% (95% CI, 75.5-97.1%) for US. There was no significant difference in terms of sensitivity or specificity for either comparison (p = .28-.76). CONCLUSION. Our analyses revealed no significant difference between US and MRI for the diagnosis of rotator cuff tendon tears after prior cuff repair. CLINICAL IMPACT. Either MRI or US can be considered a first-line imaging option to assess suspected rotator cuff retear after prior repair.

Transgeracionalidade e violência: um estudo com mulheres vítimas de relações conjugais violentas / Transgenerationality and violence: a study with women victims of violent marital relationships / Transgeneracionalidad y violencia: un estudio con mujeres víctimas de relaciones conyugales violentas

O estudo teve como objetivo compreender as experiências familiares e conjugais de mulheres em situação de violência conjugal. Trata-se de um estudo de casos múltiplos, com três mulheres em situação de violência conjugal. Os instrumentos incluíram uma entrevista sobre as relações familiares e o genograma familiar. A investigação das relações transgeracionais apontou que as mulheres haviam vivenciado padrões violentos em suas próprias famílias de origem na infância e/ou adolescência, presenciado violência entre os pais, ou como vítimas de violência parental. Tais vivências podem ter favorecido a manutenção das mulheres nas relações violentas. Os resultados encontrados apontam para a importância da ampliação do olhar sobre a violência conjugal, considerando, também, vivências na família de origem, tanto em relação a intervenções junto às mulheres, quanto em termos preventivos, visando favorecer o desenvolvimento de práticas educativas não coercitivas nas famílias. Abstract

The study aimed to understand the family and conjugal experiences of women in situations of conjugal violence. This is a multiple case study, with three women in situations of conjugal violence. The instruments included an interview on family relationships and the family genogram. The investigation of transgenerational relationships pointed out that the women had experienced violent patterns in their own families of origin during childhood and/or adolescence, witnessed violence between parents, or were victims of parental violence. Such experiences may have favored the maintenance of the women in violent relationships. The results found point to the importance of expanding the view on conjugal violence, considering also experiences in the family of origin, both in relation to interventions with women and in preventive terms, aiming to favor the development of non-coercive educational practices in families.

El estudio tuvo como objetivo comprender las vivencias familiares y conyugales de las mujeres en situación de violencia conyugal. Es un estudio de casos múltiples, con tres mujeres en situación de violencia conyugal. Los instrumentos incluyeron una entrevista sobre relaciones familiares y el genograma familiar. La investigación de las relaciones transgeneracionales mostró que las mujeres habían experimentado patrones violentos en sus familias de origen en la infancia y/o adolescencia, siendo testigos de violencia entre los padres, o como víctimas de violencia parental. Tales experiencias pueden haber favorecido el mantenimiento de las mujeres en las relaciones violentas. Los resultados encontrados señalan la importancia de ampliar la mirada sobre la violencia conyugal, considerando también las experiencias en la familia de origen, tanto en relación a intervenciones con mujeres, como en términos preventivos, con el objetivo de favorecer el desarrollo de prácticas educativas no coercitivas en las familias.

Anatomical and ultrastructural studies reveal temporal and spatial variation in the oil production in leaves of the diesel tree (Copaifera langsdorffii, Leguminosae).

The oily resin produced by Copaifera langsdorffii, commonly called oil of copaiba, is widely exploited by the drug, cosmetic, and biodiesel industries. The distribution of oily secretory cavities and canals (secretory spaces) over the vegetative body characterizes this species. Oil is stored inside the lumen of the secretory spaces and only reaches the organ surface after injuries. Nonetheless, translucent oily deposits occur on the adaxial surface of intact young leaves. In this study, we searched for further sources of oil production in C. langsdorffii leaves in addition to the well-known secretory cavities and investigated the mechanisms of secretion. Leaves in different developmental stages were collected from adult plants and processed for studies on light and transmission electron microscopies. The primary finding of this study was the involvement of the chlorenchyma cells in lipid biosynthesis, in addition to the secretory cavities. The secretory activity of cavities and chlorenchyma cells overlapped in young leaves. Ultrastructurally, secretory cavity cells exhibited abundant smooth endoplasmic reticulum profiles and oleoplasts, whereas the chlorenchyma cells had large chloroplasts with oil inclusions. Our data suggest that the oily material on the leaf surface arose from the chlorenchyma and was transported via the apoplast. These findings open new avenues for understanding oil biosynthesis regulation in mesophyll cells and planning of future strategies for the biotechnological application of C. langsdorffii leaves.

Insights Into the Somatic Mutation Burden of Hepatoblastomas From Brazilian Patients.

Hepatoblastoma is a very rare embryonal liver cancer supposed to arise from the impairment of hepatocyte differentiation during embryogenesis. In this study, we investigated by exome sequencing the burden of somatic mutations in a cohort of 10 hepatoblastomas, including a congenital case. Our data disclosed a low mutational background and pointed out to a novel set of candidate genes for hepatoblastoma biology, which were shown to impact gene expression levels. Only three recurrently mutated genes were detected: CTNNB1 and two novel candidates, CX3CL1 and CEP164. A relevant finding was the identification of a recurrent mutation (A235G) in two hepatoblastomas at the CX3CL1 gene; evaluation of RNA and protein expression revealed upregulation of CX3CL1 in tumors. The analysis was replicated in two independents cohorts, substantiating that an activation of the CX3CL1/CX3CR1 pathway occurs in hepatoblastomas. In inflammatory regions of hepatoblastomas, CX3CL1/CX3CR1 were not detected in the infiltrated lymphocytes, in which they should be expressed in normal conditions, whereas necrotic regions exhibited negative labeling in tumor cells, but strongly positive infiltrated lymphocytes. Altogether, these data suggested that CX3CL1/CX3CR1 upregulation may be a common feature of hepatoblastomas, potentially related to chemotherapy response and progression. In addition, three mutational signatures were identified in hepatoblastomas, two of them with predominance of either the COSMIC signatures 1 and 6, found in all cancer types, or the COSMIC signature 29, mostly related to tobacco chewing habit; a third novel mutational signature presented an unspecific pattern with an increase of C>A mutations. Overall, we present here novel candidate genes for hepatoblastoma, with evidence that CX3CL1/CX3CR1 chemokine signaling pathway is likely involved with progression, besides reporting specific mutational signatures.

Intra and extramedullary fat globules as an MRI marker for osteomyelitis.

Magnetic resonance imaging (MRI) findings of acute osteomyelitis vary from non-specific bone marrow edema to more reliable signs such as bone destruction, periosteal reaction, and sequestrum. In some cases, imaging features could overlap with other conditions such as trauma and bone tumors. Intra and extramedullary fat globules are a helpful MRI marker for osteomyelitis, as shown in the following case report. We report the MRI findings of a 15-year-old young man with distal femur osteomyelitis, associated with intra and extramedullary fat globules.We present the MRI features of the case and emphasize the importance of noting additional signs of osteomyelitis to make a precise diagnosis.

Resin secretory canals in Protium heptaphyllum (Aubl.) Marchand. (Burseraceae): a tridimensional branched and anastomosed system.

Protium heptaphyllum is a Burseraceae species known by the production of aromatic resin with medicinal, economic, and ecological values. Information on the development, architecture, and lifetime of the secretory system are crucial to understand the resin production and contribute to a more sustainable tapping regime. We investigated the histology and ultrastructure of the secretory canals under a developmental point of view. Stem samples were analyzed under light and transmission electron microscopy by conventional and cytochemical methods. Secretory canals, originated from procambium and cambium, occurred immersed in the primary and secondary phloem. Mature canals have a secretory epithelium and a wide lumen where the exudate is accumulated. A sheath of parenchyma cells with meristematic features surrounds the epithelium. The canals originate by schizogenesis and develop by schyzolysigenesis. Canals active in secretion occurred since the shoot apex and near the cambium. In the dilation zone of the secondary phloem, secretory canals exhibit sclerified epithelial and sheath cells and are inactive in secretion. Secreting epithelial cells have subcellular apparatus consistent with oleoresin, polysaccharides, and enzymes secretion. Pectinase and cellulase were cytochemically detected in developing canals and are involved in cell wall changes associated to canal growth and release of exudate. In P. heptaphyllum, the secretory system has a complex structure resultant from longitudinal growth, lateral ramification, and fusion of the adjacent canals, in addition to intrusive growth of both epithelial and sheath cells. Although some anatomical results are already known, ultrastructural data represent the novelty of this work. Our findings can contribute to the establishment of more efficient and sustainable techniques for resin extraction in this species.

DNA methylation landscape of hepatoblastomas reveals arrest at early stages of liver differentiation and cancer-related alterations.

Hepatoblastomas are uncommon embryonal liver tumors accounting for approximately 80% of childhood hepatic cancer. We hypothesized that epigenetic changes, including DNA methylation, could be relevant to hepatoblastoma onset. The methylomes of eight matched hepatoblastomas and non-tumoral liver tissues were characterized, and data were validated in an independent group (11 hepatoblastomas). In comparison to differentiated livers, hepatoblastomas exhibited a widespread and non-stochastic pattern of global low-level hypomethylation. The analysis revealed 1,359 differentially methylated CpG sites (DMSs) between hepatoblastomas and control livers, which are associated with 765 genes. Hypomethylation was detected in hepatoblastomas for ~58% of the DMSs with enrichment at intergenic sites, and most of the hypermethylated CpGs were located in CpG islands. Functional analyses revealed enrichment in signaling pathways involved in metabolism, negative regulation of cell differentiation, liver development, cancer, and Wnt signaling pathway. Strikingly, an important overlap was observed between the 1,359 DMSs and the CpG sites reported to exhibit methylation changes through liver development (p<0.0001), with similar patterns of methylation in both hepatoblastomas and fetal livers compared to adult livers. Overall, our results suggest an arrest at early stages of liver cell differentiation, in line with the hypothesis that hepatoblastoma ontogeny involves the disruption of liver development. This genome-wide methylation dysfunction, taken together with a relatively small number of driver genetic mutations reported for both adult and pediatric liver cancers, shed light on the relevance of epigenetic mechanisms for hepatic tumorigenesis.

Relevant aspects of imaging in the diagnosis and management of gout / Aspectos relevantes do diagnóstico e seguimento por imagem na gota

ABSTRACT Gout is an inflammatory arthritis characterized by the deposition of monosodium urate crystals in the synovial membrane, articular cartilage and periarticular tissues leading to inflammation. Men are more commonly affected, mainly after the 5th decade of life. Its incidence has been growing with the population aging.In the majority of the cases, the diagnosis is made by clinical criteria and synovial fluid analysis, in search for monosodium urate crystals. Nonetheless, gout may sometimes have atypical presentations, complicating the diagnosis. In these situations, imaging methods have a fundamental role, aiding in the diagnostic confirmation or excluding other possible differential diagnosis. Conventional radiographs are still the most commonly used method in gout patients’ evaluation; nevertheless, this is not a sensitive method, since it detect only late alterations. In the last years, there have been several advances in imaging methods for gout patients. Ultrasound has shown a great accuracy in the diagnosis of gout, identifying monosodium urate deposits in the synovial membrane and articular cartilage, in detecting and characterizing tophi and in identifying tophaceous tendinopathy and enthesopathy. Ultrasound has also been able to show crystal deposition in patients with articular pain in the absence of a classical gout crisis. Computed tomography is an excellent method for detecting bone erosions, being useful in spine involvement. Dual-energy CT is a new method able to provide information about the chemical composition of tissues, with high accuracy in the identification of monosodium urate deposits, even in the early stages of the disease and in cases of difficult characterization. Magnetic resonance imaging is useful in the evaluation of deep tissues not accessible by ultrasound. Besides the diagnosis, with the emergence of new drugs that aim to reduce tophaceous burden, imaging methods have become useful tools in monitoring the treatment of patients with gout.

RESUMO A gota é uma artrite caracterizada pela deposição de cristais de monourato sódico na membrana sinovial, na cartilagem articular e nos tecidos periarticulares que leva a um processo inflamatório. Na maioria dos casos o diagnóstico é estabelecido por critérios clínicos e pela análise do líquido sinovial, em busca dos cristais de MSU. Porém, a gota pode se manifestar de maneiras atípicas e dificultar o diagnóstico. Nessas situações, os exames de imagem têm papel fundamental, auxiliam na confirmação diagnóstica ou ainda excluem outros diagnósticos diferenciais. A radiografia convencional ainda é o método mais usado no acompanhamento desses pacientes, porém é um exame pouco sensível, por detectar somente alterações tardias. Nos últimos anos, surgiram avanços nos métodos de imagem em relação à gota. O ultrassom se mostra um exame de grande acurácia no diagnóstico de gota, identifica depósitos de MSU na cartilagem articular e nos tecidos periarticulares e detecta e caracteriza tofos, tendinopatias e entesopatias por tofos. A tomografia computadorizada é um ótimo exame para a detecção de erosões ósseas e avaliação do acometimento na coluna. A tomografia computadorizada de dupla-energia, um método novo, fornece informações sobre a composição química dos tecidos, permite a identificação dos depósitos de MSU com elevada acurácia. A ressonância magnética pode ser útil na avalição dos tecidos profundos, não acessíveis ao ultrassom. Além do diagnóstico, com o surgimento de drogas que visam reduzir a carga tofácea, os exames de imagem se tornam uma ferramenta útil no acompanhamento do tratamento dos pacientes com gota.

Structure and functioning of oil cavities in the shoot apex of Metrodorea nigra A. St.-Hil. (Rutaceae).

This study investigates the histology and subcellular features of secretory cavities during the development of the shoot apex of Metrodorea nigra A. St.-Hil. in order to better understand the functioning of these glands. This Rutaceae species is a very suitable model for studying secretory cavity life span, since the shoot apex exhibits both dormant and growth stages during its annual cycle. Shoot apices were collected during the dormant and growth stages from populations of M. nigra growing under natural conditions. Materials were processed using standard techniques for light and electron microscopy. The secretory cavities originate under the protodermis, and their initiation is restricted to the early developmental stage of shoot organs, which are protected by a hood-shaped structure. Secretory cavities have a multi-seriate epithelium surrounding a lumen that expands schizolysigenously. Oil production begins before lumen formation. When the shoot apex resumes development after the dormant stage, the glands remain active in oil secretion in the developing shoot apex and fully expanded leaves. The mature epithelial cells are flattened and exhibit very thin walls, large oil bodies, leucoplasts surrounded by endoplasmic reticulum, and mitochondria with unusual morphology. The tangential walls of the epithelial cells facing the lumen undergo continuous peeling. The vacuole extrusion appears to be the primary mode of release oil into the lumen, in an exocytotic way. The continuity of oil secretion is ensured by the replacement of the damaged inner epithelial cells by divisions in the parenchyma layer that surround the oil gland, likely a meristematic sheath.

Role of rare germline copy number variation in melanoma-prone patients.

AIM: This work evaluates a possible causative role for germline copy number variants (CNVs) in melanoma predisposition. PATIENTS & METHODS: A total of 41 melanoma-prone Brazilian patients were investigated for CNVs using 850K single nucleotide polymorphism arrays. RESULTS: Ten rare CNVs were identified in nine patients, comprising 54 known genes, mostly related to cancer. In silico analyses revealed gene enrichment for cellular development and growth, and proliferation, highlighting five genes directly associated with the melanoma phenotype (ANGPT1, IDH1, PDE5A, HIST1H1B and GCNT2). CONCLUSION: Patients harboring rare CNVs exhibited a decreased age of disease onset, in addition to an overall higher skin cancer predisposition. Our findings suggest that rare CNVs contribute to melanoma susceptibility, and should be taken into account when investigating cancer risk factors.

Surgical Site Infection Rates in Four Cities in Brazil: Findings of the International Nosocomial Infection Control Consortium.

BACKGROUND: There are no data on surgical site infection (SSI) rates stratified by surgical procedures (SPs) in Brazil, and our objective was to report such rates. METHODS: From January 2005 to December 2010 we conducted a surveillance study on SSIs in four hospital members of the International Nosocomial Infection Control Consortium (INICC) in four Brazilian cities. We applied the U.S. Centers for Disease Control and Prevention's National Healthcare Safety Network's (CDC-NHSN's) surveillance methods. Surgical procedures were classified into following types following International Classification of Diseases (ICD-9) criteria. RESULTS: We recorded 349 SSIs, associated to 61,863 SPs (0.6%; [CI], 0.5-0.6). SSI rates per type of SP were compared with INICC and CDC-NHSN reports, respectively: 2.9% for cardiac surgery (vs. 5.6%, p = 0.001 vs. 1.3%, p = 0.001); 0.4% for cesarean section (vs. 0.7%, p = 0.001 vs. 1.8%, p = 0.001); 5.4% for craniotomy (vs. 4.4% p = 0.447 vs. 2.6% p = 0.005) and 1.1% for vaginal hysterectomy (vs. 2.0% p = 0.102 vs. 0.9% p = 0.499.) CONCLUSIONS: Our SSI rates were greater in two of the four analyzed types of SPs compared with CDC-NHSN, but similar to most INICC rates. These findings on the epidemiology of SSI in Brazil will enable us to introduce targeted interventions for infection control.

Glandular trichome density and essential oil composition in leaves and inflorescences of Lippia origanoides Kunth (Verbenaceae) in the Brazilian Cerrado.

The essential oils from leaves and inflorescences of Lippia origanoides Kunth present aromatic and medicinal potential and have been used to treat several diseases, including melanoma. In Brazil, L. origanoides is commonly found in campo cerrado and cerrado stricto sensu, physiognomies featured mainly by the differential light conditions to which short and medium-sized plants are subjected. Our aim was to investigate the glandular trichome density and the yield and chemical composition of the essential oils in leaves and inflorescences of L. origanoides from campo cerrado and cerrado stricto sensu. For glandular density analysis, leaves and inflorescences were processed according to conventional techniques for scanning electron microscopy. The essential oils of leaves and inflorescences were obtained by hydrodistillation and identified with gas chromatography. Bracts and sepals showed the highest glandular density, followed by petals and leaves. The glandular density in the abaxial leaf surface was higher in individuals from the campo cerrado. In both populations the essential oil yield was higher in inflorescences than in leaves. The chemical composition of the essential oils varied among individuals from different areas and inside a same population. Our results demonstrated the chemical plasticity of L. origanoides suggesting the importance of monitoring its popular use.

Lymphovascular invasion and histologic grade are associated with specific genomic profiles in invasive carcinomas of the breast.

Lymphovascular invasion (LVI) and histologic grade are clinical parameters of high prognostic value in breast cancer and indicate the level of tumor aggressiveness. Many studies have focused on the association of breast cancer subtypes with gene expression and chromosomal profiles, but considerably less genomic information is available regarding traditional prognostic factors such as histologic grade and LVI. We studied by array-CGH a group of 57 invasive ductal carcinomas of the breast to outline the DNA copy number aberration (CNA) profile linked to high histologic grades and LVI. Selected CNAs were validated using real-time quantitative PCR (qPCR). Furthermore, gene expression analysis was performed in a subset of 32 of these tumors, and findings were integrated with array-CGH data. Our findings indicated an accumulation of genomic alterations in high-grade breast tumors compared to low-grade samples. Grade III tumors showed higher number of CNAs and larger aberrations than low-grade tumors and displayed a wide range of chromosomal aberrations, which were mainly 5p, 8q, 10p, 17q12, and 19 gains, and 3p, 4, 5q proximal, 9p, 11p, 18q, and 21 losses. The presence of LVI, a well-established prognostic marker, was not significantly associated with increased genomic instability in comparison to breast tumors negative for LVI, considering the total number of chromosomal alterations. However, a slightly increase in the frequency of specific alterations could be detected in LVI-positive group, such as gains at 5p, 16p, 17q12, and 19, and losses at 8p, 11q, 18q, and 21. Three newly reported small-scale rearrangements were detected in high-risk tumors (LVI-positive grade III) harboring putative breast cancer genes (amplicons at 4q13.3 and 11p11.2, and a deletion at 12p12.3). Furthermore, gene expression analysis uncovered networks highlighting S100A8, MMP1, and MED1 as promising candidate genes involved in high-grade and LVI-positive tumors. In summary, a group of genomic regions could be associated with high-risk tumors, and expression analysis pinpointed candidate genes deserving further investigation. The data has shed some light on the molecular players involved in two highly relevant prognostic factors and may further add to the understanding of the mechanisms of breast cancer aggressiveness.

Upregulated genes at 2q24 gains as candidate oncogenes in hepatoblastomas.

AIM: Cytogenetic data of hepatoblastomas, a rare embryonal tumor of the liver, mostly consist of descriptions of whole-chromosome aneuploidies and large chromosome alterations. High-resolution cytogenetics may provide clues to hepatoblastoma tumorigenesis and indicate markers with clinical significance. PATIENTS & METHODS: We used array-CGH (180K) to screen for genomic imbalances in nine hepatoblastomas. Additionally, we investigated the expression pattern of selected genes exhibiting copy number changes. RESULTS: Analysis showed mainly whole-chromosome or chromosome-arm aneuploidies, but some focal aberrations were also mapped. Expression analysis of 48 genes mapped at one 10 Mb amplification at 2q24 revealed upregulation of DAPL1, ERMN, GALNT5, SCN1A and SCN3A in the set of tumors compared with differentiated livers. CONCLUSION: These genes appear as candidates for hepatoblastoma tumorigenesis.

Genome-wide DNA methylation profile of leukocytes from melanoma patients with and without CDKN2A mutations.

Melanoma is a highly aggressive cancer, accounting for up to 75% of skin cancer deaths. A small proportion of melanoma cases can be ascribed to the presence of highly penetrant germline mutations, and approximately 40% of hereditary melanoma cases are caused by CDKN2A mutations. The current study sought to investigate whether the presence of germline CDKN2A mutations or the occurrence of cutaneous melanoma would result in constitutive genome-wide DNA methylation changes. The leukocyte methylomes of two groups of melanoma patients (those with germline CDKN2A mutations and those without CDKN2A mutations) were analyzed together with the profile of a control group of individuals. A pattern of DNA hypomethylation was detected in the CDKN2A-negative patients relative to both CDKN2A-mutated patients and controls. Additionally, we delineated a panel of 90 CpG sites that were differentially methylated in CDKN2A-mutated patients relative to controls. Although we identified a possible constitutive epigenetic signature in CDKN2A-mutated patients, the occurrence of reported SNPs at the detected CpG sites complicated the data interpretation. Thus, further studies are required to elucidate the impact of these findings on melanoma predisposition and their possible effect on the penetrance of CDKN2A mutations.

Conhecimento sobre saúde periodontal dos pacientes submetidos à triagem nos postos de saúde de Barretos / Patient’s knowledge about periodontal health in the screening service of health units from Barreto

O objetivo deste estudo é avaliar o nível de conhecimento sobre saúde periodontal de indivíduos submetidos à triagem nos postos de saúde da cidade de Barretos, interior de São Paulo. Na primeira fase do estudo, todos os pacientes que compareceram à triagem foram convidados e aceitaram responder a um questionário enquanto aguardavam a consulta. O questionário, com oito perguntas abordava conhecimento sobre placa bacteriana e doença periodontal com respostas em aberto. Na segunda fase, as respostas obtidas foram transcritas, e aquelas mais frequentes foram agrupadas para construir as opções de múltiplas-escolhas do novo questionário. Na terceira fase, este novo instrumento foi aplicado aos indivíduos que comparecerem à triagem de março a agosto de 2013. Sessenta e seis pacientes participaram desta fase. Destes, 36,4% caracterizaram a placa bacteriana como um “acúmulo de resíduos que pode provocar doenças na gengiva e cárie”. Para a maioria dos pacientes (72,7%) a placa bacteriana deve ser removida pelo dentista. Adicionalmente, 62,1% dos pacientes assinalou que a placa bacteriana causa cárie; e 72,7%, que causa gengivite. Responderam ainda que a correta higienização é importante para evitar o mau-hálito (48,5%) e para ter uma boca saudável (65,2%). Com base nos resultados obtidos pode-se concluir que os pacientes têm conhecimento do que seja a placa bacteriana e que esta pode causar gengivite. Além disto, acreditam que a higienização é importante para manter a saúde, porém consideram que a responsabilidade de remover a placa bacteriana é do cirurgião-dentista.

The aim of this study is to assess the level of knowledge about periodontal health of subjects submitted to screening at public health clinics of Barretos. In the first phase of the study, all patients who attended the screening were invited and agreed to answer a questionnaire while waiting for appointments. The questionnaire with eight questions addressed knowledge about plaque and periodontal disease with open answers. In the second phase, the responses were transcribed, and those most frequently were grouped to construct the multiple choice options for the new questionnaire. In the third phase, this new tool has been applied to individuals who attend the screening from March to August 2013. Sixty-six patients participated in this phase. Of these, 36.4 % characterized the plaque as a “waste buildup that can cause gum disease and tooth decay”. For the majority of patients (72.7%) plaque must be removed by the dentist. Additionally, 62.1% of patients indicated that the plaque causes tooth decay, and 72.7%, causing gingivitis. Yet responded to the correct hygiene is important to prevent bad breath (48.5%) and to have a healthy mouth (65.2 %). Based on the results obtained it can be concluded that the patients to be aware of and plaque that can cause gingivitis. Moreover, they believe that hygiene is important for maintaining health, but consider that the responsibility to remove plaque is the dentist.