Polymorphisms of the SCN1A gene in children and adolescents with primary headache and idiopathic or cryptogenic epilepsy: is there a linkage?

The purpose of this study was to evaluate the distribution of the polymorphisms of the SCN1A gene in a series of children and adolescents with primary headache and idiopathic or cryptogenic epilepsy compared to controls. Five non-synonymous exonic polymorphisms (1748A > T, 2656T > C, 3199A > G, 5771G > A, 5864T > C) of the SCN1A gene were selected and their genotyping was performed, by high resolution melting (HRM), in 49 cases and 100 controls. We found that among the five polymorphisms, only 3199A > G was a true polymorphism. We did not find a statistically significant difference between distribution of 3199A > G genotypes between cases and controls. We excluded the role of the SCN1A gene in the pathogenesis of comorbidity between headache (especially migraine) and epilepsy. The SCN1A gene is a major gene in different epilepsies and epilepsy syndromes; the HRM could be the new methodology, more rapid and efficacious, for molecular analysis of the SCN1A gene

Metabolic Syndrome and All-Cause and Cardiovascular Mortality in an Italian Elderly Population: The Progetto Veneto Anziani (Pro.V.A.) Study

OBJECTIVE—The purpose of this study was to explore the association of metabolic syndrome and each of its components with all-cause and cardiovascular mortality in a general Italian elderly population

Sleep-disordered breathing and pregnancy outcomes: The impact of maternal oxygen saturation

ObjectiveTo investigate pathological associations between sleep-disordered breathing (SDB) and pregnancy outcomes. MethodsFrom May 2016 to September 2019, obese women during their uncomplicated singleton pregnancies underwent screening sleep questionnaires, oxygen saturation monitoring, and, in proper cases, complete overnight polysomnography. Their medical records were also recorded. ResultsIn all, 112 pregnant women were included in the study cohort; 44 showed an oxygen desaturation index & GE;10, and their newborns had a significantly higher rate of congenital abnormalities and respiratory distress syndrome compared with the women with normal pulse oximetry. Stepwise multivariate regression analysis showed that basal oxygen saturation was independently associated with the occurrence of fetal growth restriction. ConclusionAmong obese pregnant women, the rate of congenital abnormalities is higher in the ones with altered pulse oximetry. Maternal basal oxygen saturation in the first trimester of pregnancy predicts fetal growth restriction independently of maternal age, ethnicity, body mass index, gravidity, and hypertensive disorders of pregnancy

scaffold characterization using nlo multimodal microscopy in metrology for regenerative medicine

Metrology in regenerative medicine aims to develop traceable measurement technologies for characterizing cellular and macromolecule behaviour in regenerative medicine products and processes. One key component in regenerative medicine is using three-dimensional porous scaffolds to guide cells during the regeneration process. The regeneration of specific tissues guided by tissue analogous substrates is dependent on diverse scaffold architectural properties that can be derived quantitatively from scaffolds images. This paper discuss the results obtained with the multimodal NLO microscope recently realized in our laboratory in characterizing 3D tissue engineered (TE) scaffolds colonized from human Mesenchimal stem cells (hMSC), focusing on the study of the three-dimensional metrological parameters

Comparison between Baden and Walker classification systems and ICS standardization of terminology of female pelvic organ prolapse

OBJECTIVE: to compare Baden and Walker's (BW) classification system to the International Continence Society (ICS) standardization of terminology of female pelvic organ prolapse. METHODS: information about urogynecological investigation on 101 women, performed by the Urogynecology and Vaginal Surgery Sector of UNIFESP/EPM, was retrospectively analyzed. Only patients who had undergone the standard ICS exam which quantifies the pelvic prolapse were selected. According to ICS, the prolapse is analyzed through a standard reference system relating the hymen to the anatomic position of six vaginal points: two in the anterior vaginal wall, two in the vaginal apex and other two in the posterior vaginal wall. The maximum amount of pelvic organ prolapse was viewed and recorded during a Valsalva's maneuver. The measurement of the most distal point of the prolapse was performed and it was compared to the BW classification system. The data were analyzed by kappa statistics, to assess the concordance between the two terminologies. RESULTS: There was total correspondence only for the posterior vaginal prolapse stage IV (one patient) and for the uterus prolapse stage 0 (29 patients) with severe rectocele and absence of prolapse, respectively, according to BW. In the three types of prolapses evaluated, the values of kappa statistics were below 0.4, indicating a weak concordance between the two terminologies. There is an extensive variation in the measurement of the most distal point of prolapse when the BW classification is perfomed. CONCLUSIONS: there is a weak concordance between the BW classification system and the ICS standardization of terminology of female pelvic organ prolapse.OBJETIVO: comparar a classificação de Baden e Walker (BW) para o prolapso pélvico feminino e a preconizada pela Sociedade Internacional de Continência (ICS). MÉTODOS: em trabalho retrospectivo foram analisadas as informações sobre 101 pacientes atendidas no setor de Uroginecologia e Cirurgia Vaginal do Departamento de Ginecologia da UNIFESP/EPM durante investigação uroginecológica. As pacientes foram selecionadas a partir da revisão do prontuário médico, onde foram identificadas aquelas que submeteram-se a exame padronizado pela ICS a fim de quantificar o prolapso pélvico feminino. Conforme preconiza a ICS, o prolapso foi analisado por um sistema padrão de referência que relaciona a carúncula himenal (ponto fixo) à posição anatômica de seis pontos definidos: 2 na parede vaginal anterior, 2 no ápice vaginal e 2 na parede vaginal posterior. A máxima protrusão do prolapso foi visualizada e registrada durante a manobra de Valsalva solicitada à paciente. Realizou-se a medida do ponto mais externo do prolapso (pontos Ba, Bp e C) comparando-o com a classificação de BW. A medida adotada para avaliar a concordância entre as duas terminologias foi a estatística kappa. RESULTADOS: observou-se correspondência de 100% somente para o prolapso de parede vaginal posterior estádio IV (1 paciente) e para o prolapso uterino estádio zero (29 pacientes), segundo Baden e Walker, com retocele severa e ausência de prolapso, respectivamente. Para os três tipos de prolapsos examinados, os valores da estatística kappa estavam abaixo de 0,4, indicando fraca concordância entre as duas terminologias. Concluímos que existe uma ampla variação nas medidas do ponto mais externo do prolapso ao se realizar a classificação de BW. Para um determinado grau de prolapso na classificação de BW encontramos mais de um estádio na classificação da ICS. CONCLUSÕES: existe fraca concordância entre as classificações de Baden e Walker e a da Sociedade Internacional de Continência para as distopias genitais.Universidade Federal de São Paulo (UNIFESP) Escola Paulista de Medicina Departamento de GinecologiaUNIFESP, EPM, Depto. de GinecologiaSciEL

Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency

PMCID: PMC3983946.-- et al.[Background]: COQ4 encodes a protein that organises the multienzyme complex for the synthesis of coenzyme Q10 (CoQ10). A 3.9 Mb deletion of chromosome 9q34.13 was identified in a 3-year-old boy with mental retardation, encephalomyopathy and dysmorphic features. Because the deletion encompassed COQ4, the patient was screened for CoQ10 deficiency. [Methods]: A complete molecular and biochemical characterisation of the patient's fibroblasts and of a yeast model were performed. [Results]: The study found reduced COQ4 expression (48% of controls), CoQ10 content and biosynthetic rate (44% and 43% of controls), and activities of respiratory chain complex II+III. Cells displayed a growth defect that was corrected by the addition of CoQ10 to the culture medium. Knockdown of COQ4 in HeLa cells also resulted in a reduction of CoQ10. Diploid yeast haploinsufficient for COQ4 displayed similar CoQ deficiency. Haploinsufficency of other genes involved in CoQ10 biosynthesis does not cause CoQ deficiency, underscoring the critical role of COQ4. Oral CoQ10 supplementation resulted in a significant improvement of neuromuscular symptoms, which reappeared after supplementation was temporarily discontinued. [Conclusion]: Mutations of COQ4 should be searched for in patients with CoQ10 deficiency and encephalomyopathy; patients with genomic rearrangements involving COQ4 should be screened for CoQ10 deficiency, as they could benefit from supplementation.This work was supported by Telethon Italy grant no GGP09207, CARIPARO foundation, the Spanish Ministerio de Sanidad (FIS) grant no PI 08/0500, University of Padova grant no 2010-CPDA102953, Italian Ministry of Health grant no GR-2009-1578914, National Institute of Health grant nos 1R01HD057543-01 and HD 32062, and Cariplo Foundation grant no 2007.5197.Peer reviewe

Non-neural phenotype of spinal and bulbar muscular atrophy: Results from a large cohort of Italian patients

Objective: To carry out a deep characterisation of the main androgen-responsive tissues involved in spinal and bulbar muscular atrophy (SBMA). Methods: 73 consecutive Italian patients underwent a full clinical protocol including biochemical and hormonal analyses, genitourinary examination, bone metabolism and densitometry, cardiological evaluation and muscle pathology. Results: Creatine kinase levels were slightly to markedly elevated in almost all cases (68 of the 73; 94%). 30 (41%) patients had fasting glucose above the reference limit, and many patients had total cholesterol (40; 54.7%), low-density lipoproteins cholesterol (29; 39.7%) and triglyceride (35; 48%) levels above the recommended values. Although testosterone, luteinising hormone and follicle-stimulating hormone values were generally normal, in one-third of cases we calculated an increased Androgen Sensitivity Index reflecting the presence of androgen resistance in these patients. According to the International Prostate Symptom Score (IPSS), 7/70 (10%) patients reported severe lower urinal tract symptoms (IPSS score >19), and 21/73 (30%) patients were moderately symptomatic (IPSS score from 8 to 19). In addition, 3 patients were carriers of an indwelling bladder catheter. Videourodynamic evaluation indicated that 4 of the 7 patients reporting severe urinary symptoms had an overt prostate-unrelated bladder outlet obstruction. Dual-energy X-ray absorptiometry scan data were consistent with low bone mass in 25/61 (41%) patients. Low bone mass was more frequent at the femoral than at the lumbar level. Skeletal muscle biopsy was carried out in 20 patients and myogenic changes in addition to the neurogenic atrophy were mostly observed. Conclusions: Our study provides evidence of a wide non-neural clinical phenotype in SBMA, suggesting the need for comprehensive multidisciplinary protocols for these patients. \ua9 2016 Published by the BMJ Publishing Group Limited