Excess weight, central adiposity and pro-inflammatory diet consumption in patients with neuromyelitis optica spectrum disorder.

PURPOSE: To characterize the nutritional status and the consumed Dietary Inflammatory Index (DII) by individuals with Neuromyelitis Optica Spectrum Disorder (NMOSD). METHODS: Anthropometric, clinical data (Expanded Disability Status Scale, EDSS) anthropometric data (Body Mass Index - BMI; Waist Circumference - WC; Waist-to-hip ratio - WHR; and percentage of fat mass -%FM) and data on food consumption (24-hour recall) were collected to determine the Dietary Inflammatory Index (DII), according to Shivappa et al. For the statistical analysis, descriptive measures and statistical tests were used, with the significance level set at p <0.05. RESULTS: There was a higher prevalence of females (86.8%). The abdominal fat accumulation in individuals was demonstrated in 57.9%, 73.0%, 70.3% and 30.0%, according to BMI, WC, WHR and%FM, respectively. There was no correlation between the EDSS score and the nutritional status, but there was a positive correlation between the administered corticosteroid dose and BMI (r = 0.55; p = 0.002), WC (r = 0.55; p = 0.003) and WHR (r = 0.41; p = 0.033). The mean DII was 4.99 (± 1.09), indicating the consumption of a pro-inflammatory diet. There was a difference in the DII according to gender (p <001). In the case-control segment, there was a significant difference in the DII between the groups (ß = 2.51; 95% CI: 1.73; 3.27) and a higher risk of developing the disease when the DII was ≥4.41 (OR = 30.25; 95% CI: 6.70; 136.47). CONCLUSIONS: Diets with high inflammatory potential are associated with increased risk of NMOSD.

Paraprobiotic obtained by ohmic heating added in whey-grape juice drink is effective to control postprandial glycemia in healthy adults.

The effect of paraprobiotic Lacticaseibacillus casei 01 inactivated by ohmic heating (8 V/cm, 95 °C/7 min, 60 Hz) whey-grape juice drink at the postprandial glycemia was evaluated. In vitro hypoglycemic activity was assessed by the α-glucosidase and α-amylase inhibition, while in vivo activity was determined using 15 healthy subjects, which consumed bread + probiotic whey drink, bread + paraprobiotic whey drink, and bread alone as a control. The probiotic and paraprobiotic grape-flavored whey drinks showed similar α-glucosidase and α-amylase inhibition (51.2 vs 51.8% and 43.2 vs 44.2%, respectively). The consumption of both paraprobiotic and probiotic whey drinks increased the incremental glucose rate when compared to the control due to the presence of sugar in its composition, without changes in the other parameters evaluated (maximum glucose value, glucose incremental percentage, and peak blood glucose time), showing a reduced glycemic response. In addition, the consumption of the paraprobiotic drink maintained the maximum glucose increase similar to the control, while an increase in this parameter was observed after the consumption of the probiotic drink. Therefore, the paraprobiotic grape-flavored whey drink may be an effective alternative to replace the probiotic product in reducing the postprandial glycemia in healthy individuals.

Early use of nitazoxanide in mild COVID-19 disease: randomised, placebo-controlled trial.

BACKGROUND: Nitazoxanide is widely available and exerts broad-spectrum antiviral activity in vitro. However, there is no evidence of its impact on severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. METHODS: In a multicentre, randomised, double-blind, placebo-controlled trial, adult patients presenting up to 3 days after onset of coronavirus disease 2019 (COVID-19) symptoms (dry cough, fever and/or fatigue) were enrolled. After confirmation of SARS-CoV-2 infection using reverse transcriptase PCR on a nasopharyngeal swab, patients were randomised 1:1 to receive either nitazoxanide (500 mg) or placebo, three times daily, for 5 days. The primary outcome was complete resolution of symptoms. Secondary outcomes were viral load, laboratory tests, serum biomarkers of inflammation and hospitalisation rate. Adverse events were also assessed. RESULTS: From June 8 to August 20, 2020, 1575 patients were screened. Of these, 392 (198 placebo, 194 nitazoxanide) were analysed. Median (interquartile range) time from symptom onset to first dose of study drug was 5 (4-5) days. At the 5-day study visit, symptom resolution did not differ between the nitazoxanide and placebo arms. Swabs collected were negative for SARS-CoV-2 in 29.9% of patients in the nitazoxanide arm versus 18.2% in the placebo arm (p=0.009). Viral load was reduced after nitazoxanide compared to placebo (p=0.006). The percentage viral load reduction from onset to end of therapy was higher with nitazoxanide (55%) than placebo (45%) (p=0.013). Other secondary outcomes were not significantly different. No serious adverse events were observed. CONCLUSIONS: In patients with mild COVID-19, symptom resolution did not differ between nitazoxanide and placebo groups after 5 days of therapy. However, early nitazoxanide therapy was safe and reduced viral load significantly.

Genealogical and molecular analysis of a family-based cohort of congenital heart disease patients from the São Miguel Island (Azores, Portugal).

BACKGROUND: Congenital heart disease (CHD) is one common birth malformation, accounting for ∼30% of total congenital abnormalities. AIM: Considering the unknown role of consanguinity in causing CHD, this study hypothesised that consanguineous unions and/or familial aggregation may be frequent in the Azorean Island of São Miguel (Portugal). To that end, a retrospective observational study was performed based on genealogical and molecular analyses. SUBJECTS AND METHODS: The study enrolled 112 CHD patients from São Miguel Island, which allowed the assessment of type of family (simplex or multiplex), parental consanguinity and grandparental endogamy. Based on 15 STR markers, inbreeding coefficients (FIS) in the CHD cohort and healthy control group (n = 114) were estimated. RESULTS: Multiplex families were 37.6% (n = 41/109), a rate considerably higher than previously described in the literature (< 15%). Moreover, 9.2% (n = 10/109) of the CHD families were consanguineous, mostly derived from third cousin unions, and 20.2% (n = 22/109) presented full grandparental endogamy. Higher FIS values were found in patients with parental consanguinity (0.0371) and patent ductus arteriosus (0.0277). CONCLUSION: This study analysed several genealogical and genetic features related with CHD, revealing the presence of parental consanguinity and extensive familial aggregation in the CHD patients from São Miguel Island.

Transient neonatal diabetes due to a missense mutation (E227K) in the gene encoding the ATP-sensitive potassium channel (KCNJ11).

Neonatal diabetes is a monogenic form of diabetes. Herein, we report on a newborn presenting diabetic ketoacidosis at 17 days of life. A KCNJ11 mutation was identified. In such cases, insulin can be replaced by sulfonylurea with a successful metabolic control, as an example of how molecular diagnosis may influence the clinical management of the disorder.

A unique phenotype in a patient with a rare triplication of the 22q11.2 region and new clinical insights of the 22q11.2 microduplication syndrome: a report of two cases.

BACKGROUND: The rearrangements of the 22q11.2 chromosomal region, most frequently deletions and duplications, have been known to be responsible for multiple congenital anomaly disorders. These rearrangements are implicated in syndromes that have some phenotypic resemblances. While the 22q11.2 deletion, also known as DiGeorge/Velocardiofacial syndrome, has common features that include cardiac abnormalities, thymic hypoplasia, characteristic face, hypocalcemia, cognitive delay, palatal defects, velopharyngeal insufficiency, and other malformations, the microduplication syndrome is largely undetected. This is mainly because phenotypic appearance is variable, milder, less characteristic and unpredictable. In this paper, we report the clinical evaluation and follow-up of two patients affected by 22q11.2 rearrangements, emphasizing new phenotypic features associated with duplication and triplication of this genomic region. CASE PRESENTATION: Patient 1 is a 24 year-old female with 22q11.2 duplication who has a heart defect (ostium secundum atrial septal defect) and supernumerary teeth (hyperdontia), a feature previously not reported in patients with 22q11.2 microduplication syndrome. Her monozygotic twin sister, who died at the age of one month, had a different heart defect (truncus arteriousus). Patient 2 is a 20 year-old female with a 22q11.2 triplication who had a father with 22q11.2 duplication. In comparison to the first case reported in the literature, she has an aggravated phenotype characterized by heart defects (restrictive VSD and membranous subaortic stenosis), and presented other facial dysmorphisms and urogenital malformations (ovarian cyst). Additionally, she has a hemangioma planum on the right side of her face, a feature of Sturge-Weber syndrome. CONCLUSIONS: In this report, we described hyperdontia as a new feature of 22q11.2 microdeletion syndrome. Moreover, this syndrome was diagnosed in a patient who had a deceased monozygotic twin affected with a different heart defect, which corresponds to a phenotypic discordance never reported in the literature. Case 2 is the second clinical report of 22q11.2 triplication and presents an aggravated phenotype in contrast to the patient previously reported.

Screening of copy number variants in the 22q11.2 region of congenital heart disease patients from the São Miguel Island, Azores, revealed the second patient with a triplication.

BACKGROUND: The rearrangements in the 22q11.2 chromosomal region, responsible for the 22q11.2 deletion and microduplication syndromes, are frequently associated with congenital heart disease (CHD). The present work aimed to identify the genetic basis of CHD in 87 patients from the São Miguel Island, Azores, through the detection of copy number variants (CNVs) in the 22q11.2 region. These structural variants were searched using multiplex ligation-dependent probe amplification (MLPA). In patients with CNVs, we additionally performed fluorescent in situ hybridization (FISH) for the assessment of the exact number of 22q11.2 copies among each chromosome, and array comparative genomic hybridization (array-CGH) for the determination of the exact length of CNVs. RESULTS: We found that four patients (4.6%; A to D) carried CNVs. Patients A and D, both affected with a ventricular septal defect, carried a de novo 2.5 Mb deletion of the 22q11.2 region, which was probably originated by inter-chromosomal (inter-chromatid) non-allelic homologous recombination (NAHR) events in the regions containing low-copy repeats (LCRs). Patient C, with an atrial septal defect, carried a de novo 2.5 Mb duplication of 22q11.2 region, which could have been probably generated during gametogenesis by NAHR or by unequal crossing-over; additionally, this patient presented a benign 288 Kb duplication, which included the TOP3B gene inherited from her healthy mother. Finally, patient B showed a 3 Mb triplication associated with dysmorphic facial features, cognitive deficit and heart defects, a clinical feature not reported in the only case described so far in the literature. The evaluation of patient B's parents revealed a 2.5 Mb duplication in her father, suggesting a paternal inheritance with an extra copy. CONCLUSIONS: This report allowed the identification of rare deletion and microduplication syndromes in Azorean CHD patients. Moreover, we report the second patient with a 22q11.2 triplication, and we suggest that patients with triplications of chromosome 22q11.2, although they share some characteristic features with the deletion and microduplication syndromes, present a more severe phenotype probably due to the major dosage of implicated genes.

Padrão alimentar de mulheres com câncer de mama: um estudo a posteriori / Dietary pattern of women with breast cancer: a posteriori study / Patrón alimentario de mujeres con cáncer de mama: estúdio a Posteriori

Objetivo: Identificar o padrão alimentar a posteriori de mulheres com câncer de mama. Métodos: Estudo observacional, transversal e analítico. Foram avaliadas 100 mulheres com câncer de mama, submetidas à quimioterapia/radioterapia, atendidas em um centro de câncer, na cidade de Fortaleza-CE, de julho a dezembro de 2012. Coletaram-se dados clínicos (subtipo, estadiamento clínico ? EC, tratamento), socioeconômicos (escolaridade e renda mensal), antropométricos (peso, estatura, índice de massa corporal ? IMC) e de consumo alimentar. Para avaliação do consumo, foi utilizado um questionário quantitativo de frequência alimentar (QQFA) validado para mulheres do Nordeste, e o consumo diário de cada alimento foi definido em gramas/ml, sendo agrupados, de acordo com sua composição nutricional, em 10 grupos, seguindo a pirâmide alimentar adaptada à população brasileira. Definiu-se o padrão alimentar por componentes alimentares a partir da análise fatorial explanatória dos dez grupos de alimentos, utilizando-se o SPSS, versão 20.0. Resultados: Idade média de 50,9±10,2 anos, com prevalência de carcinoma ductal (n=83; 83%) em EC III (n=60; 60%). A média do IMC indicou excesso de peso (28,3±4,4 kg/m2) e a circunferência da cintura estava acima do recomendado (98,6±10,9 cm). Identificaram-se quatro componentes alimentares e 21% da variância da dieta foi explicada pelo componente alimentar 1 (Risk), com a matriz composta por carne vermelha e processada, óleos, gorduras e cereais. Conclusão: O padrão alimentar das pacientes foi caracterizado por uma dieta de risco, que pode contribuir positivamente para a recidiva da doença.

Objective: To identify a posteriori dietary pattern of women with breast cancer. Methods: Observational, cross-sectional and analytical study. It evaluated 100 women with breast cancer, undergoing chemotherapy/radiotherapy, treated at a cancer center in the city of Fortaleza, from July to December 2012. The study collected clinical data (subtype, clinical stage - CS, treatment), socioeconomic (educational level and monthly income) and anthropometric data (weight, height, body mass index - BMI), and food consumption. To evaluate the consumption, a quantitative food frequency questionnaire (FFQ), validated for women of the Brazilian Northeast, was applied, and the daily consumption of each food was set in grams/ml, being grouped according to their nutritional composition, into 10 groups, following the food pyramid adapted to the Brazilian population. The dietary pattern was defined by food components from the exploratory factor analysis of those ten food groups, using the SPSS, version 20.0. Results: Mean age of 50.9±10.2 years, with prevalence of ductal carcinoma (n=83; 83%) in CS III (n=60; 60%). The mean BMI indicated overweight (28.3±4.4 kg/m2) and waist circumference was above the recommended (98.6±10.9 cm). Four food components were identified, and 21% of the diet variance was explained by food component 1 (Risk), with the matrix composed of red and processed meat, oils, fats and cereals. Conclusion: The patients? dietary pattern was characterized by a risk diet, which can positively contribute to the disease recurrence.

Objetivo: Identificar el patrón alimentario a posteriori de mujeres con cáncer de mama. Métodos: Estudio observacional, transversal y analítico. Fueron evaluadas 100 mujeres con câncer de mama sometidas a quimioterapia/radioterapia asistidas en um centro de cáncer de Fortaleza-CE, de julio a diciembre de 2012. Se recogieron datos clínicos (subtipo, clasificación clínica ? CC, tratamiento), socioeconómicos (escolaridad y renta mensual), antropométricos (peso, estatura, índice de masa corporal ? IMC) y de consumo alimentario. Para la evaluación del consumo, fue utilizado un cuestionario cuantitativo de frecuencia alimentaria (QQFA) validado para mujeres del Nordeste, y el consumo a diário de cada alimento fue definido en gramos/ml, siendo agrupados, según su composición nutricional, en 10 grupos, siguiendo La pirámide alimentaria adaptada a la población brasileña. Se definió el patrón alimentario por componentes alimentarios a partir del análisis factorial exploratorio de los diez grupos de alimentos, con la utilización del SPSS, versión 20.0. Resultados: Edad media de 50,9±10,2 años, con prevalencia de carcinoma ductal (n=83; 83%) en CC III (n=60; 60%). La media del IMC indico exceso de peso (28,3±4,4 kg/m2) y la circunferencia de La cintura estaba por encima del recomendado (98,6±10,9 cm). Se identificaron cuatro componentes alimentarios y el 21% de La variancia de la dieta fue explicada por el componente alimentario 1 (Risk), con la matriz formada por carne roja y procesada, aceites, grasas y cereales. Conclusión: El patrón alimentario de las pacientes fue caracterizado por una dieta de riesgo que puede contribuir positivamente para la recidiva de la enfermedad.

Quality of life and self-esteem in patients submitted to surgical treatment of skin carcinomas: long-term results.

BACKGROUND: Cancer is a multifactorial disease and skin carcinomas are the most common type of cancer. Assessing quality of life and self-esteem outcomes in skin cancer patients is important because these are indicators of the results of the treatment, translating how patients face their lives and their personal relationships. OBJECTIVE: To assess the late impact of the surgical treatment of head and/or neck skin carcinomas on quality of life and self-esteem of the patients. METHODS: Fifty patients with head or neck skin carcinomas were enrolled. Their age ranged between 30 and 75 years, 27 were men and 23 were women. Patients were assessed with regard to quality of life and self-esteem, preoperatively and five years postoperatively. Validated instruments were used: the MOS 36-item Short-form Health Survey (SF-36) and the Rosenberg Self-esteem/EPM-UNIFESP Scale. The Wilcoxon signed-rank test was used for the statistical analysis. RESULTS: Twenty-two patients completed the five-year follow-up, 54.5% women and 45.5% men. Compared to the preoperative assessment, patients had an improvement in mental health (p=0.011) and in self-esteem (p=0.002). There was no statistical difference with regard to the other domains of the SF-36. CONCLUSION: Patients submitted to surgical treatment of skin carcinoma improved mental health and self-esteem in the late postsurgical testing.

Quality of life and self-esteem in patients submitted to surgical treatment of skin carcinomas: long-term results

BACKGROUND: Cancer is a multifactorial disease and skin carcinomas are the most common type of cancer. Assessing quality of life and self-esteem outcomes in skin cancer patients is important because these are indicators of the results of the treatment, translating how patients face their lives and their personal relationships. OBJECTIVE: To assess the late impact of the surgical treatment of head and/or neck skin carcinomas on quality of life and self-esteem of the patients. METHODS: Fifty patients with head or neck skin carcinomas were enrolled. Their age ranged between 30 and 75 years, 27 were men and 23 were women. Patients were assessed with regard to quality of life and self-esteem, preoperatively and five years postoperatively. Validated instruments were used: the MOS 36-item Short-form Health Survey (SF-36) and the Rosenberg Self-esteem/EPM-UNIFESP Scale. The Wilcoxon signed-rank test was used for the statistical analysis. RESULTS: Twenty-two patients completed the five-year follow-up, 54.5% women and 45.5% men. Compared to the preoperative assessment, patients had an improvement in mental health (p=0.011) and in self-esteem (p=0.002). There was no statistical difference with regard to the other domains of the SF-36. CONCLUSION: Patients submitted to surgical treatment of skin carcinoma improved mental health and self-esteem in the late postsurgical testing. .

Pediatric cardiology and telemedicine: seven years' experience of cooperation with remote hospitals.

BACKGROUND: A telemedicine program was initiated in November 2000 between the Pediatric Cardiology Department of a tertiary care hospital in Lisbon and pediatricians and obstetricians from three remote Portuguese hospitals: two in mainland Portugal and one in the Azores. Images were transmitted by a telemedicine link over three integrated service digital network (ISDN) lines to a regional pediatric cardiology unit for interpretation by a consultant pediatric cardiologist. METHODS: We performed a retrospective review of all teleconsultations at our Department between November 2000 and December 2007. We analyzed the population (fetal, neonatal and pediatric), indications for teleconsultation, diagnoses, impact of the teleconsultation and medical management. RESULTS: Over seven years, a total of 577 real-time teleconsultations were carried out in 500 patients, corresponding to 201 fetal exams (35%), 249 evaluations of newborns (43%) and 127 of children (22%). A total of 103 transmissions were urgent (18%). There were 364 positive diagnoses (63%) in 209 newborns (56%), 85 children (23%) and 71 fetuses (21%). Structural congenital heart disease was the most frequent diagnosis, complex in 95 patients. In all of the complex anomalies, the segmental arrangement and the main diagnosis were correctly assessed by telemedicine, with the exception of one case of a telemedicine diagnosis of atrial septal defect which was not subsequently confirmed. Nineteen patients required urgent transfer to Lisbon, while a medical team from our department traveled to the local hospitals and performed surgical ligation of a large patent ductus arteriosus in three premature newborns and a percutaneous atrioseptostomy in one newborn with transposition of the great arteries and severe desaturation unresponsive to prostaglandins, thus avoiding the transfer of unstable patients. The other patients were referred for follow-up in local clinics or for specialist consultation, either locally or at our hospital. CONCLUSIONS: In our experience, real-time telemedicine with on-line echocardiography, conducted by a pediatric cardiologist, is an important tool in the diagnosis or exclusion of pediatric cardiovascular diseases in patients admitted to remote hospitals. It plays an important role in continuous medical training for the staff of those hospitals, especially in the field of pre-and post-natal echocardiography. Telemedicine has significant medical, economic and social benefits for patients, families and institutions in remote areas, particularly in the field of pediatric cardiology.

[Pleuroamniotic shunting--case report]. / Drenagem pleuro-amniótica.

Fetal hydrothorax refers to a collection of fluid within the fetal thorax that may be the result of chylous leak from the thoracic duct (primary hydrothorax) or generalized fluid retention associated with immune or no immune fetal hydrops (secondary hydrothorax). The authors' presents a case report occurred in 2002, of a pregnant woman that at 25 weeks' gestation that was referred to Maternidade Bissaya-Barreto-Coimbra because of a fetal hydrothorax at left, under tension and with cardiac decompensation signs. A fetal thoracocentesis was performed and the diagnosis was chylothorax. Because of a rapid reaccumulation of fluid a pleuroamniotic shunt was placed. The effusion and the cardiac decompensation signs regressed. The delivery was at 38 weeks' gestation. The newborn had been stable. Actually he has 10 months, is healthy and has a normal grow and development.

Considerations about the initial manifestations of the migraine crises with aura

Os autores estudam os sintomas iniciais da crise de enxaqueca com aura em 244 pacientes. Em 206 deles havia uma única manifestaçäo clínica representada por perturbaçöes visuais em 197, sensitivas em três, vestibulares em três e de linguagem três outros. Nos 38 restantes, duas (25 casos) ou três (13 casos) queixas eram referidas. Em apenas dois pacientes polissintomáticos encontrou-se uma progressäo nos sintomas no sentido distúrbio visual sensitivo da linguagem motores

Considerations about the initial manifestations of the migraine crises with aura / Considerations about the initial manifestations of the migraine crises with aura

Os autores estudam os sintomas iniciais das crises de enxaqueca com aura em 244 pacientes. Em 206 deles havia uma unica manifestacao clinica representada por pertubacoes visuais em 197, sensitivas em tres, vestibulares em tres e de linguagem em tres outros. Nos 38 restantes, duas (25 casos) ou tres (13 casos) queixas eram referidas. Em apenas dois pacientes polissintomaticos encontrou-se uma progressao dos sintomas no sentido disturbio visual -> sensitivo ->da linguagem -> motores.

Sindrome de Raeder e tumor hipotalamico / Raeder Syndrome and hypothalamic tumor

Os autores apresentam um caso de sindrome paratrigeminal de Raeder associada com um tumor (oligodendroglioma) hipotalamico com expansao para-selar. A literatura relevante abordando a incidencia, etiopatogenia e sintomatologia e revisada.

Cefaleia em salvas: alguns aspectos clinicos pouco frequentes / Cluster headache: some unusual clinical aspects

Os AA discutem aspectos clinicos pouco frequentes encon trados em pacientes com cefaleia em salvas, tais como: periodo digico prolongado;forma cronica evoluindo para episodica; forma cronica cedendo espontaneamente; dor altenando de lado e dor bilateral; dor unilateral com disturbios autonomicosbilaterais; localizaçao atipica da dor

Cefaleia tensional: consideraçoes clinicas, fisiopatogenicas e terapeuticas / Tension headache: clinical features, pathogenesis and treatment

Os autores tecem comentarios sobre aspectos clinicos,a fisiopatogenia e a terapeutica da Cefaleia Tensional

Consideraçöes sobre a possível relaçäo entre enxaqueca e depressäo cortical alastrante / Possible relationship between migraine and spreading cortical depression

"Os autores respaldados na análise da sintomatologia clínica de 209 casos de enxqueca clássica, tecem consideraçöes sobre a discutível participaçäo do fenômeno da depressäo cortical alastrante na gênese das crises de enxaqueca"