Use of Honey Bees and Hive Products as Bioindicators to Assess Environmental Contamination in Targeted Areas of the Campania Region (Italy).

In recent years, biomonitoring has gained more attention, particularly when assessing the environmental health of significant areas, such as those near waste-to-energy facilities. These requirements coincide with the chance to detect environmental pollutants using sensitive organisms. Bees were shown to be quite effective in evaluating the presence of certain compounds by analyzing their associated matrices, such as pollen, honey, or wax. In our study, we employed the honey bee (Apis mellifera) as an indicator to initially monitor the vicinity of the waste-to-energy plant in Acerra, which is situated in the Campania region of Italy. The primary aim was to determine whether the facility was accountable for any environmental releases of dioxins or dioxin-like compounds. Then, we assessed the presence of additional pollutants in the same area, including trace elements, polycyclic aromatic hydrocarbons, and pesticides, released by human activities. To obtain further information about environmental quality, a second biomonitoring station was installed near the Caivano S.T.I.R. (Waste Shredding, Sifting, and Packaging Plant). The results showed the dioxin levels did not exceed predetermined limitations at the Acerra site, thus demonstrating the efficacy of the waste-to-energy facility and the bees' ability to detect the presence of other pollutants. Additionally, this biomonitoring system exhibited sensitivity to environmental variations, thereby enabling the evaluation of xenobiotic flux between two proximate zones and across temporal scales. This pioneering study suggests the advantages of utilizing bees to detect a wide range of contaminants, thereby providing valuable insights into environmental quality and potential health risks for both ecosystems and human populations.

The routines of women with fibromyalgia and an interdisciplinary challenge to promote self-care. / O cotidiano de mulheres com fibromialgia e o desafio interdisciplinar de empoderamento para o autocuidado.

OBJECTIVE: To describe the daily lives of women living with fibromyalgia through the implementation of an interdisciplinary group intervention and verify its benefits to the participants' health. METHOD: This descriptive, exploratory, qualitative study was conducted with 12 women who participanted in an interdisciplinary health education group at the State University of Rio de Janeiro. Data were collected in 2016 through semi-structured interviews, which were organized and analyzed according to Bardin's content analysis. This study was approved by the Institutional Review Board (CAAE 16413013013100005259), in accordance with the legal and ethical guidelines estabished by Resolution 466/2012. RESULTS: Two categories emerged from the analytical corpus, namely: Expression of everyday life and Repercussions of the interdisciplinary group. CONCLUSION: The actions implemented by the interdisciplinary group resulted in numerous physical, psychological and social benefits for the women.

Endoscopic and Phoniatric Evaluation in Singing Students.

OBJECTIVES: In To analyze laryngostroboscopic findings and ENT/phoniatric examination results in a group of singing students and in a control group of non-singing subjects to emphasize the importance of ENT/phoniatric examination and of laryngostroboscopy before taking up singing. METHODS: 56 singing students and 60 healthy euphonic non-singer volunteers were recruited. In each subject a perceptual assessment and a self-assessment (VHI) of the voice were performed. The singing students filled out the Singing-VHI. All subjects underwent flexible fiberoptic endoscopy and laryngostroboscopy. All subjects were evaluated through the Reflux Symptom Index (RSI) and the Reflux Finding Score (RFS). RESULTS: At laryngostroboscopy, 60.7% of students presented pathological findings, versus 20% of controls (P < 0.0001). Incomplete glottic closure (35.7% vs. 13.3%), supraglottic hypertonus (16.1% vs. 5%), organic lesions (bilateral nodules, cysts, sulcus vergeture) (17.9% vs. 3.3%), posterior erythema (16.1% vs. 5%) and laryngeal edema (14.3% vs 3.3%) were more frequent in the students. The most common symptoms in singers were phonasthenia (37.5 % vs 6.7%; P = 0.0001) and mucus sensation (17.9% vs. 5%, P = 0.03). S-VHI showed higher values in students with pathological laryngostroboscopy (P < 0.0001). Finally, average RSI and RFS were higher in students. CONCLUSIONS: Due to the high percentage of organic and functional voice disorders in singing students, it would be desirable that every subject who is going to start singing underwent an ENT/phoniatric investigation with videostrobolaryngoscopy to ascertain vocal folds healthy condition.

O cotidiano de mulheres com fibromialgia e o desafio interdisciplinar de empoderamento para o autocuidado / El cotidiano de mujeres con fibromialgia y el desafío interdisciplinar de empoderamiento para el autocuidado / The routines of women with fibromyalgia and an interdisciplinary challenge to promote self-care

Resumo OBJETIVOS Descrever o cotidiano das mulheres que vivem com fibromialgia durante a intervenção do grupo interdisciplinar e analisar seus benefícios à saúde das mulheres após a intervenção. MÉTODO Trata-se de um estudo descritivo exploratório, de abordagem qualitativa, desenvolvido com 12 mulheres participantes do grupo interdisciplinar de educação em saúde, em uma Universidade Estadual do Rio de Janeiro. Os dados foram coletados em 2016 por meio de entrevista semiestruturada e, em seguida, organizados e submetidos à análise de conteúdo segundo Bardin. O presente estudo foi aprovado pelo comitê de ética recebendo o número do CAAE 16413013013100005259, em consonância aos aspectos éticos legais da resolução 466/2012. RESULTADOS Do corpus analítico, emergiram duas categorias intituladas: A expressão do cotidiano e Repercussões do grupo interdisciplinar. CONCLUSÃO As ações do grupo interdisciplinar proporcionaram inúmeros benefícios tanto físicos, quanto psicológicos e sociais para cada mulher.

Resumen OBJETIVOS Describir el cotidiano de las mujeres que viven con fibromialgia durante la intervención del grupo interdisciplinario y analizar sus beneficios a la salud de las mujeres después de la intervención. MÉTODO Se trata de un estudio descriptivo exploratorio, de abordaje cualitativo, desarrollado con 12 mujeres participantes del grupo interdisciplinario de educación en salud, en una Universidad Estadual del Río de Janeiro. Los datos fueron recolectados en 2016 por medio de entrevistas semiestructuradas y luego organizados y sometidos al análisis de contenido según Bardin. El presente estudio fue aprobado en el comité de ética recibiendo la numeración del CAAE 16413013013100005259, en consonancia a los aspectos éticos legales de la resolución 466/2012. RESULTADOS Del corpus analítico, emergieron dos categorías tituladas: La expresión del cotidiano y Repercusiones del grupo interdisciplinario. CONCLUSIÓN Las acciones del grupo interdisciplinario proporcionaron innumerables beneficios tanto físicos, como psicológicos y sociales para cada mujer.

Abstract OBJECTIVE To describe the daily lives of women living with fibromyalgia through the implementation of an interdisciplinary group intervention and verify its benefits to the participants' health. METHOD This descriptive, exploratory, qualitative study was conducted with 12 women who participanted in an interdisciplinary health education group at the State University of Rio de Janeiro. Data were collected in 2016 through semi-structured interviews, which were organized and analyzed according to Bardin's content analysis. This study was approved by the Institutional Review Board (CAAE 16413013013100005259), in accordance with the legal and ethical guidelines estabished by Resolution 466/2012. RESULTS Two categories emerged from the analytical corpus, namely: Expression of everyday life and Repercussions of the interdisciplinary group. CONCLUSION The actions implemented by the interdisciplinary group resulted in numerous physical, psychological and social benefits for the women.

Kinematic analysis of subtalar eversion during gait in women with fibromyalgia.

OBJECTIVE: To analyse the subtalar eversion range of motion during walking in women with fibromyalgia. METHOD: Twenty women diagnosed with fibromyalgia were directed to walk barefoot at comfortable and self-paced speed on a 7m walkway. Subtalar eversion range of motion was measured using the difference between the maximum and minimum values of subtalar eversion in stance phase. A range of motion between 4°-6° was considered as reference values for subtalar eversion during gait. Descriptive statistics were performed. RESULTS: In both right and left lower limb analysis of subtalar eversion range of motion, five women showed joint hypomobility, and twelve showed hypermobility. Only one patient performed unaltered subtalar eversion range of motion in both lower limbs. Both joints expressed high variability, and there were no significant differences between the right and left sides. CONCLUSIONS: The findings suggest that biomechanical function of the subtalar joint eversion during the loading response phase of gait in women with fibromyalgia, by excessive rigidity or complacency joint, tends to be impaired. This finding suggests that the indication of walking as an auxiliary strategy in the treatment of women with fibromyalgia should be preceded by thorough examination of the mechanical conditions of the subtalar joint of the patient.

Complications with Fiberoptic Endoscopic Evaluation of Swallowing in 2,820 Examinations.

OBJECTIVE: To perform a retrospective evaluation of the incidence of complications and adverse events during fiberoptic endoscopic evaluation of swallowing (FEES) in 2,820 examinations. PATIENTS AND METHODS: Subjects included in- and outpatients at Pisa University Hospital referred for FEES by other physicians due to dysphagia symptoms. Neurologic diseases were the most commonly diagnosed conditions in the patients tested (48.3%). Informed consent was obtained from all subjects. RESULTS: Our study showed minor side effects (discomfort, occasional gagging and vomiting) and a few complications [three cases of anterior epistaxis (0.1%), one case of posterior epistaxis (0.04%), three cases of vasovagal syncope (0.1%) and two cases of laryngospasm (0.07%)]. These cases of laryngospasm occurred in patients with amyotrophic lateral sclerosis (ALS) and spontaneously resolved after some difficulty. CONCLUSIONS: Our study confirms the published data regarding the safety of FEES and the incidence of complications with this procedure, but also highlights that in neurologic patients with neurodegenerative diseases such as ALS, laryngospasm is more likely to occur as a severe complication. The overall risk of FEES is minimal, but it is recommended that clinicians be well trained in recognising the signs and symptoms of adverse reactions and be ready to take appropriate action if these occur.

Increased multiple sclerosis relapses related to lower prevalence of pain.

OBJECTIVE: The study aims to investigate the presence of pain amongst multiple sclerosis (MS) patients. METHOD: One hundred MS patients responded to questionnaires evaluating neuropathic and nociceptive pain, depression and anxiety. Statistical analysis was performed using the Mann-Whitney U, Chi-Square and two-tailed Fisher's exact tests and multivariate logistic regression. RESULTS: Women had a statistically higher prevalence of pain (p = 0.037), and chances of having pain after the age of 50 reduced. Women with pain had a statistically significant lower number of relapses (p = 0.003), restricting analysis to those patients with more than one relapse. After the second relapse, each relapse reduced the chance of having pain by 46%. Presence of pain was independent of Expanded Disability Status Scale (EDSS) anxiety, and depression. CONCLUSION: Our findings suggest a strong inverse association between relapses and pain indicating a possible protective role of focal inflammation in the control of pain.

NFIX mutations affecting the DNA-binding domain cause a peculiar overgrowth syndrome (Malan syndrome): a new patients series.

The Nuclear Factor I-X (NFIX) is a member of the nuclear factor I (NFI) protein family and is deleted or mutated in a subset of patients with a peculiar overgrowth condition resembling Sotos Syndrome as well as in patients with Marshall-Smith syndrome. We identified three additional patients with this phenotype each carrying a different new mutation affecting the DNA-binding/dimerization domain of the NFIX protein. The present report further adds weight to the hypothesis that mutations in DNA-binding/dimerization domain are likely to cause haploinsufficiency of the NFIX protein and confirms that NFIX is the second gene that should be tested in individuals with overgrowth conditions resembling Sotos syndrome, previously tested negative for NSD1 mutations. We then propose to consider this overgrowth syndrome (namely Malan syndrome) and Marshall-Smith syndrome NFIX-related diseases.

Increased multiple sclerosis relapses related to lower prevalence of pain / Aumento nos surtos de esclerose múltipla relacionado com menor prevalência de dor

Objective The study aims to investigate the presence of pain amongst multiple sclerosis (MS) patients. Method One hundred MS patients responded to questionnaires evaluating neuropathic and nociceptive pain, depression and anxiety. Statistical analysis was performed using the Mann–Whitney U, Chi-Square and two-tailed Fisher’s exact tests and multivariate logistic regression. Results Women had a statistically higher prevalence of pain (p = 0.037), and chances of having pain after the age of 50 reduced. Women with pain had a statistically significant lower number of relapses (p = 0.003), restricting analysis to those patients with more than one relapse. After the second relapse, each relapse reduced the chance of having pain by 46%. Presence of pain was independent of Expanded Disability Status Scale (EDSS) anxiety, and depression. Conclusion Our findings suggest a strong inverse association between relapses and pain indicating a possible protective role of focal inflammation in the control of pain. .

Objetivo O estudo tem como objetivo investigar a presença de dor entre pacientes com esclerose múltipla (EM). Método Cem pacientes com EM responderam a questionários avaliando dor neuropática e nociceptiva, depressão e ansiedade. A análise estatística foi realizada através dos testes de Mann-Whitney U, Qui-Quadrado, two tailed Fisher exact test e regressão logística multivariada. Resultados As mulheres apresentaram estatisticamente uma maior prevalência de dor (p = 0,037), e as chances de ter dor após a idade de 50 reduziram. As mulheres com dor tinham um número com significância estatística reduzido de surtos (p = 0,003), restringindo a análise aos pacientes com mais de um surto. Após o segundo surto, cada surto reduziu a chance de ter dor em 46%. A presença de dor foi independente da Expanded Disability Status Scale (EDSS) ansiedade e depressão. Conclusão Nossos resultados sugerem uma forte associação inversa entre o surto e a dor, indicando um possível papel protetor da inflamação focal no controle da dor. .

Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire.

Rubinstein-Taybi syndrome (RSTS) is a rare, clinically heterogeneous disorder characterized by cognitive impairment and several multiple congenital anomalies. The syndrome is caused by almost private point mutations in the CREBBP (~55% of cases) and EP300 (~8%) genes. The CREBBP mutational spectrum is variegated and characterized by point mutations (30-50 %) and deletions (~10%). The latter are diverse in size and genomic position and remove either the whole CREBBP gene and its flanking regions or only an intragenic portion. Here, we report 14 novel CREBBP deletions ranging from single exons to the whole gene and flanking regions which were identified by applying complementary cytomolecular techniques: fluorescence in situ hybridization, multiplex ligation-dependent probe amplification and array comparative genome hybridization, to a large cohort of RSTS patients. Deletions involving CREBBP account for 23% of our detected CREBBP mutations, making an important contribution to the mutational spectrum. Genotype-phenotype correlations revealed that patients with CREBBP deletions extending beyond this gene did not always have a more severe phenotype than patients harboring CREBBP point mutations, suggesting that neighboring genes play only a limited role in the etiopathogenesis of CREBBP-centerd contiguous gene syndrome. Accordingly, the extent of the deletion is not predictive of the severity of the clinical phenotype.

A splicing mutation of the HMGA2 gene is associated with Silver-Russell syndrome phenotype.

Silver-Russell syndrome (SRS) is a heterogeneous disorder characterized by intrauterine and post-natal growth retardation, dysmorphic facial features and body asymmetry. About 50% of the patients carry (epi)genetic alterations involving chromosomes 7 or 11.The high proportion of patients with unidentified molecular etiology suggests the involvement of other genes. Interestingly, SRS patients share clinical features with the 12q14 microdeletion syndrome, characterized by several deletions with a 2.6 Mb region of overlap. Among the genes present in this interval, high mobility AT-hook 2 (HMGA2) appears to be the most likely cause of the growth deficiency, due to its described growth control function. To define the role of HMGA2 in SRS, we looked for 12q14 chromosome imbalances and HMGA2 mutations in a cohort of 45 patients with growth retardation and SRS-like phenotype but no 11p15 (epi)mutations or maternal uniparental disomy of chromosome 7 (matUPD7). We identified a novel 7 bp intronic deletion in HMGA2 present in heterozygosity in the proband and her mother both displaying the typical features of SRS. We demonstrated that the deletion affected normal splicing, indicating that it is a likely cause of HMGA2 deficiency. This study provides the first evidence that a loss-of-function mutation of HMGA2 can be associated with a familial form of SRS. We suggest that HMGA2 mutations leading to haploinsufficiency should be investigated in the SRS patients negative for the typical 11p15 (epi)mutations and matUPD7.

Familial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects.

BACKGROUND: Loss-of-function mutations of the FLNA gene cause a neuronal migration disorder defined as X-linked periventricular nodular heterotopia (PNH); gain-of-function mutations are associated with a group of X-linked skeletal dysplasias designed as otopalatodigital (OPD) spectrum. We describe a family in which a woman and her three daughters exhibited a complex phenotype combining PNH, epilepsy and Melnick-Needles syndrome (MNS), a skeletal disorder assigned to the OPD spectrum. All four individuals harboured a novel non-conservative missense mutation in FLNA exon 3. METHODS: In all affected family members, we performed mutation analysis of the FLNA gene, RT-PCR, ultradeep sequencing analysis in FLNA cDNAs and western blot in lymphocyte cells to further characterise the mutation. We also assessed the effects on RT-PCR products of treatment of patients' lymphocytes with cycloheximide, a nonsense mediated mRNA decay (NMD) inhibitor. RESULTS: We identified a novel c.622G>C change in FLNA exon 3, leading to the substitution of a highly conserved aminoacid (p.Gly208Arg). Gel electrophoresis and ultradeep sequencing revealed the missense mutation as well as retention of intron 3. Cycloheximide treatment demonstrated that the aberrant mRNA transcript-retaining intron 3 is subjected to NMD. Western blot analysis confirmed reduced FLNA levels in lymphocyte cells. CONCLUSIONS: The novel c.622G>C substitution leads to two aberrant FLNA transcripts, one of which carries the missense mutation, plus a longer transcript resulting from intron 3 retention. We propose that the exceptional co-occurrence of PNH and MNS, two otherwise mutually exclusive allelic phenotypes, is the consequence of a single mutational event resulting in co-occurring gain-of-function and loss-of-function effects.

Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.

Kabuki syndrome (KS) is a multiple congenital anomalies syndrome characterized by characteristic facial features and varying degrees of mental retardation, caused by mutations in KMT2D/MLL2 and KDM6A/UTX genes. In this study, we performed a mutational screening on 303 Kabuki patients by direct sequencing, MLPA, and quantitative PCR identifying 133 KMT2D, 62 never described before, and four KDM6A mutations, three of them are novel. We found that a number of KMT2D truncating mutations result in mRNA degradation through the nonsense-mediated mRNA decay, contributing to protein haploinsufficiency. Furthermore, we demonstrated that the reduction of KMT2D protein level in patients' lymphoblastoid and skin fibroblast cell lines carrying KMT2D-truncating mutations affects the expression levels of known KMT2D target genes. Finally, we hypothesized that the KS patients may benefit from a readthrough therapy to restore physiological levels of KMT2D and KDM6A proteins. To assess this, we performed a proof-of-principle study on 14 KMT2D and two KDM6A nonsense mutations using specific compounds that mediate translational readthrough and thereby stimulate the re-expression of full-length functional proteins. Our experimental data showed that both KMT2D and KDM6A nonsense mutations displayed high levels of readthrough in response to gentamicin treatment, paving the way to further studies aimed at eventually treating some Kabuki patients with readthrough inducers.

Microduplications in 22q11.2 and 8q22.1 associated with mild mental retardation and generalized overgrowth.

The 22q11.2 microduplication is a genomic disorder, characterized from a variable phenotype ranging from different defects to normality. The most common microduplication of 22q11.2 is 3 Mb in size, but there are also cases reported with atypical duplications between 0.8 Mb and 6Mb. Here, we describe a case of a child with macrocephaly, overgrowth with advanced bone age, attention deficits, evidence of mild mental retardation and dysmorphic features. An array-CGH analysis detected a 252 Kb duplication at the 22q11.2 region inherited from mother and 142 Kb duplication at 8q22.1 region inherited from father. Both parents show mild dysmorphic features. The duplicated genes in chromosomes 22q and 8q are TOP3B and PGCP, respectively. We describe for the first time a patient carrying the smaller atypical 22q11.2 duplication who also presents with mild mental retardation and generalized overgrowth. This patient has an additional duplication in 8q22.1 which may act as a genomic modifier of its clinical phenotype.

3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder.

BACKGROUND: Since the advent of array-CGH, numerous new microdeletional syndromes have been delineated while others remain to be described. Although 3q29 subtelomeric deletion is a well-described syndrome, there is no report on 3q interstitial deletions. METHODS: We report for the first time seven patients with interstitial deletions at the 3q27.3q28 locus gathered through the Decipher database, and suggest this locus as a new microdeletional syndrome. RESULTS: The patients shared a recognisable facial dysmorphism and marfanoid habitus, associated with psychosis and mild to severe intellectual disability (ID). Most of the patients had no delay in gross psychomotor acquisition, but had severe impaired communicative and adaptive skills. Two small regions of overlap were defined. The first one, located on the 3q27.3 locus and common to all patients, was associated with psychotic troubles and mood disorders as well as recognisable facial dysmorphism. This region comprised several candidate genes including SST, considered a candidate for the neuropsychiatric findings because of its implication in interneuronal migration and differentiation processes. A familial case with a smaller deletion allowed us to define a second region of overlap at the 3q27.3q28 locus for marfanoid habitus and severe ID. Indeed, the common morphological findings in the first four patients included skeletal features from the marfanoid spectrum: scoliosis (4/4), long and thin habitus with leanness (average Body Mass Index of 15 (18.5

Pure 16q21q22.1 deletion in a complex rearrangement possibly caused by a chromothripsis event.

BACKGROUND: Partial monosomies of chromosome 16q are rare and overlapping effects from complex chromosomal rearrangements often hamper genotype-phenotype correlations for such imbalances. Here, we report the clinical features of an isolated partial monosomy 16q21q22.1 in a boy with a complex de novo rearrangement possibly resulting from a chromothripsis event. RESULTS: The patient presented with low birth weight, microcephaly, developmental delay, facial dysmorphisms, short stature, dysmorphic ears and cardiopathy. Standard and molecular cytogenetics showed a complex rearrangement characterised by a pericentromeric inversion in one of chromosomes 12 and an inverted insertional translocation of the 12q14q21.1 region, from the rearranged chromosome 12, into the q21q22.1 tract of a chromosome 16. Array-CGH analysis unravelled a partial 16q21q22.1 monosomy, localised in the rearranged chromosome 16. CONCLUSIONS: The comparison of the present case to other 16q21q22 monosomies contributed to narrow down the critical region for cardiac anomalies in the 16q22 deletion syndrome. However, more cases, well characterised both for phenotypic signs and genomic details, are needed to further restrict candidate regions for phenotypic signs in 16q deletions. The present case also provided evidence that a very complex rearrangement, possibly caused by a chromothripsis event, might be hidden behind a classical phenotype that is specific for a syndrome.

20 novel point mutations and one large deletion in EXT1 and EXT2 genes: report of diagnostic screening in a large Italian cohort of patients affected by hereditary multiple exostosis.

BACKGROUND: Hereditary multiple exostosis represents the most frequent bone tumor disease in humans. It consists of cartilage deformities affecting the juxta-ephyseal region of long bones. Usually benign, exostosis could degenerate in malignant chondrosarcoma form in less than 5% of the cases. Being caused by mutations in the predicted tumor suppressor genes, EXT1 (chr 8q23-q24) and EXT2 (chr 11p11-p12) genes, HMEs are usually inherited with an autosomal dominant pattern, although "de novo" cases are not infrequent. AIM: Here we present our genetic diagnostic report on the largest Southern Italy cohort of HME patients consisting of 90 subjects recruited over the last 5years. RESULTS: Molecular screening performed by direct sequencing of both EXT1 and EXT2 genes, by MLPA and Array CGH analyses led to the identification of 66 mutations (56 different occurrences) and one large EXT2 deletion out of 90 patients (74.4%). The total of 21 mutations (20 different occurrences, 33.3%) and the EXT2 gene deletion were novel. In agreement with literature data, EXT1 gene mutations were scattered along all the protein sequence, while EXT2 lesions fell in the first part of the protein. Conservation, damaging prediction and 3-D modeling, in-silico, analyses, performed on three novel missense variants, confirmed that at least in two cases the novel aminoacidic changes could alter the structure stability causing a strong protein misfolding. CONCLUSIONS: Here we present 20 novel EXT1/EXT2 mutations and one large EXT2 deletion identified in the largest Southern Italy cohort of patients affected by hereditary multiple exostosis.

Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization.

OBJECTIVE: To perform an extensive search for genomic rearrangements by microarray-based comparative genomic hybridization in patients with epilepsy. DESIGN: Prospective cohort study. SETTING: Epilepsy centers in Italy. PATIENTS: Two hundred seventy-nine patients with unexplained epilepsy, 265 individuals with nonsyndromic mental retardation but no epilepsy, and 246 healthy control subjects were screened by microarray-based comparative genomic hybridization. MAIN OUTCOME MEASURES: Identification of copy number variations (CNVs) and gene enrichment. RESULTS: Rare CNVs occurred in 26 patients (9.3%) and 16 healthy control subjects (6.5%) (P = .26). The CNVs identified in patients were larger (P = .03) and showed higher gene content (P = .02) than those in control subjects. The CNVs larger than 1 megabase (P = .002) and including more than 10 genes (P = .005) occurred more frequently in patients than in control subjects. Nine patients (34.6%) among those harboring rare CNVs showed rearrangements associated with emerging microdeletion or microduplication syndromes. Mental retardation and neuropsychiatric features were associated with rare CNVs (P = .004), whereas epilepsy type was not. The CNV rate in patients with epilepsy and mental retardation or neuropsychiatric features is not different from that observed in patients with mental retardation only. Moreover, significant enrichment of genes involved in ion transport was observed within CNVs identified in patients with epilepsy. CONCLUSIONS: Patients with epilepsy show a significantly increased burden of large, rare, gene-rich CNVs, particularly when associated with mental retardation and neuropsychiatric features. The limited overlap between CNVs observed in the epilepsy group and those observed in the group with mental retardation only as well as the involvement of specific (ion channel) genes indicate a specific association between the identified CNVs and epilepsy. Screening for CNVs should be performed for diagnostic purposes preferentially in patients with epilepsy and mental retardation or neuropsychiatric features.

Representações da relação entre exercício físico e saúde por pacientes fibromiálgicos / Representations of the relationship between physical exercise and health for patients with fibromyalgia

Fibromialgia (FM) é uma síndrome caracterizada por dor músculo esquelética crônica generalizada, fadiga, distúrbio do sono e sintomas associados. Preocupação com o controle da síndrome justifica-se por sua crescente prevalência e pelo impacto negativo na qualidade de vida dos afetados. Das opções de tratamento não-medicamentoso, o exercício físico (EF) é elemento terapêutico relevante. Há preocupação como o impacto da síndrome e sua terapêutica sobre a saúde, aqui entendida como um conjunto de dimensões - física, emocional, social, espiritual, intelectual e profissional - de uma pessoa. O objetivo do estudo foi identificar a percepção de pacientes com FM sobre a relação entre EF e saúde. Utilizou-se o referencial teórico-metodológico das Representações Sociais numa amostra de 22 mulheres de um projeto multidisciplinar: Educação Física, Nutrição, Medicina e Psicologia. A análise dos dados foi realizada a partir do conteúdo transcrito das gravações de entrevista semiestruturada e interpretação de ilustrações feitas pelas pacientes. Houve melhora na dimensão física, demonstrada pelo alívio da dor nas falas; houve também melhora na dimensão emocional, evidenciada pela melhora da autoestima indicada nas ilustrações. Com base na teoria utilizada, as pacientes reconhecem a relação positiva entre EF e saúde.

The fibromyalgia syndrome (FMS) is characterized by widespread chronic musculoskeletal pain, fatigue, disturbed sleep and associated symptoms. Its increasing prevalence and life quality impairment of patients justify researches for its control. Physical exercise (PE) is a relevant therapeutic tool among nonpharmachologic treatments options. It is important to mind the impact of FMS and different therapeutics on health, here understood as a set of dimensions: physical, emotional, social, spiritual, intellectual and professional. This study aimed to identify FMS patients' perception of relationship between PE and health. It used the theoretical methodological reference of Social Representation to study 22 women of a multidisciplinary project: Physical Education, Nutrition, Medicine and Psychology. Data analysis considered transcription of recorded semi-structured interview, and interpretation of patients' illustrations. There were improvements in physical dimension evidenced by pain relief. Positive effects were also observed in emotional dimension, evidenced by self-esteem improvement, which appeared in the pictures. Based on the theory adopted, it was possible to identify that patients recognize a positive relationship between PE and health.