FundaÃÃo Cearense de Apoio ao Desenvolvimento Cientifico e TecnolÃgico / Os recÃm-nascidos (RN) com malformaÃÃo congÃnita (MC) requerem dos profissionais de enfermagem atenÃÃo e cuidados especÃficos e individualizados. O estudo objetivou avaliar a prevalÃncia dos recÃm-nascidos com malformaÃÃes congÃnitas em instituiÃÃes pÃblicas e a assistÃncia de enfermagem prestada a essas crianÃas internadas na Unidade Neonatal (UN) nas primeiras 24 horas de vida. Estudo descritivo, transversal, quantitativo, realizado em trÃs Unidades Neonatais de instituiÃÃes hospitalares (A, B e C) de Fortaleza, Brasil. A amostra foi composta de 159 recÃm-nascidos, sendo 75 na instituiÃÃo A; 44 na B; e 40 na C. Os dados foram coletados em 2012, de janeiro a junho em A e B, e de marÃo a agosto em C. Investigou-se prontuÃrios e documentos nas unidades referidas e, posteriormente, eles foram registrados em formulÃrios prÃprios contendo variÃveis maternas e neonatais, apÃs a aprovaÃÃo pelos ComitÃs de Ãtica. Os resultados revelaram prevalÃncia de 3,3%, 2,1% e 3,6% de RN malformados nas instituiÃÃes, respectivamente. Da amostra, 53% eram masculinos, 57% com 37 a 41,6 semanas gestacionais, 52% pesando entre 2.500g e 3999g, 66% com estatura de 39 a 49 cm, Apgar no 1Â(60%) e 5Â(79%) minutos de sete a dez. Dentre as terapias implementadas ao RN, sobressaÃram-se oxigenoterapia sob Oxi-hood (42%); Dieta zero (37%); hidrataÃÃo venosa (36%); punÃÃo de acesso venoso central para infusÃes (44%); manuseio de trÃs em trÃs horas (89%) e nÃo realizaram cirurgias no perÃodo (75%). Dentre os curativos, o local destacado foi a regiÃo sacral (54%) e a cobertura com compressa estÃril (21%). As malformaÃÃes congÃnitas diagnosticadas foram categorizadas conforme classificaÃÃo do CID â 10, prevalecendo aquelas pertencentes ao Sistema Osteomuscular (30%) e Sistema Nervoso Central (SNC) (21,1%), ressaltando o PÃ torto congÃnito, Polidactilia, Hidrocefalia e Mielomeningocele. Destacaram-se as malformaÃÃes isoladas (61%) e os registros de cuidados de enfermagem envolvendo exames (24,4%) e oxigenoterapia (16,9%). Ocorreram associaÃÃes estatisticamente significantes entre as categorias de malformaÃÃes e algumas variÃveis especÃficas: (MC do SNC) x (IG, Terapia Medicamentosa); (MC do olho, ouvido, face, pescoÃo) x (IG, Uso de drogas e Escolaridade); (MC Aparelho CirculatÃrio) x (Uso de drogas e Terapia Medicamentosa); (MC Aparelho RespiratÃrio) x (Idade materna e Uso de drogas); (Fenda labial ou palatina) x (Idade materna e Uso de drogas); (Outras MC do Aparelho Digestivo) x (Modalidade VentilatÃria, Forma de NutriÃÃo e Cirurgia); (MC dos ÃrgÃos Genitais) x (Sexo, Renda familiar e Forma de NutriÃÃo); (MC Osteomuscular) x (NÃmero de GestaÃÃes e Modalidade VentilatÃria); (Outras MC) x (IG e Peso); e (Anomalias CromossÃmicas) x (Idade materna), todos com p<0,05. Concluiu-se que ainda se faz prevalente o nÃmero de MC em RN e que a equipe de enfermagem implementa cuidados de acordo com as condiÃÃes clÃnicas, da patologia e equilÃbrio hemodinÃmico de cada RN e nÃo especificamente para cada tipo de malformaÃÃo. / The newborns (NB) with congenital malformation (CM) requires from nursing professionals the performance of specific and individualized care. This study aimed at evaluating the prevalence of newborns with congenital malformation in public institutions and the nursing care provided to these children admitted to the Neonatal Unit (NU) in the first 24 hours of life. This is a descriptive, cross-sectional and quantitative study, which was conducted in three Neonatal Units of hospitals (A, B, C) from the city of Fortaleza-CE/Brazil. The sample was composed of 159 newborns; from which 75 belong to institution A; 44 to B; and 40 to C. The data were collected in 2012, from January to June in A and B, and from March to August in C. Records and documents were investigated in the aformentioned units and, subsequently, they were recorded in the proper forms containing maternal and neonatal variables, after approval by the Ethical Committee. Results showed prevalence of 3.3%, 2.1% and 3.6% of malformed newborns in the institutions, respectively. Of the sample, 53% were male, 57% with 37 to 41,6 gestation weeks, 52% weighing between 2,500 g and 3999g, 66% with height 39-49 cm, Apgar score at 1st (60%) and 5th (79%) minutes from seven to ten. Among the implemented therapies to the NB, it should be highlighted oxygenotherapy in Oxy-hood (42%); Zero diet (37%); intravenous hydration (36%); central venous access puncture for infusions (44%); handling for every three hours (89%) and did not undergo surgery throughout the period (75%). Among the dressings, the highlighted location was the sacral region (54%) and the coverage with sterile compress (21%). The diagnosed congenital malformations were categorized according to the classification of the ICD â 10, prevailing those ones belonging to the Musculoskeletal System (30%) and to the Central Nervous System (CNS) (21.1%) highlighting the Congenital clubfoot, Polydactyly, Hydrocephalus and Myelomeningocele. It should also be highlighted the isolated malformations (61%) and the nursing care records involving examinations (24.4%) and oxygenotherapy (16.9%). There were statistically significant associations between the malformations categories and some specific variables: (CM of the CNS) x (GI, Drug Therapy) (CM of the eye, ear, face, neck) x (GI, Drug use and Schooling); (CM of the Circulatory System) x (Maternal age and Drug use) (CM of the Respiratory System) x (Drug use and Drug therapy); (Cleft-lip and palate) x (Maternal age and Drug use); (Others CM of the Digestive System) x (Ventilation modality and Nutrition and Surgery forms); (CM of the Genitalia) x (Gender, Family Income and Nutrition form); (Musculoskeletal CM) x (Number of pregnancies and Ventilation modality); (Others CM) x (GI and weight), and (Chromosomal Abnormalities) x (Maternal age), all with p <0.05. We have concluded that the number of NB with CM it is still prevalent and the nursing staff implements the healthcare according to the clinical conditions, pathology and hemodynamic balance of each NB and not specifically for each type of malformation.

La malformation de Chiari type 1 (MCI) est une anomalie congénitale de la jonction cranio-cérébrale fréquente avec une incidence de 1:1280. MCI est caractérisée par la descente des amygdales cérébelleuses à travers le foramen magnum et est souvent associée à la syringomyélie. Les causes de cette maladie semblent être multifactorielles incluant des facteurs génétiques. La MCI est similaire à une malformation fréquente chez la race des Griffon Bruxellois (GB) connue sous le nom de Malformation Chiari-like (MCL). Le modèle canin offre l’avantage d’une forte homogénéité génétique réduisant ainsi la complexité de la maladie et facilitant l’identification d’un locus causatif. Une étude d’association du génome entier sur une cohorte de 56 GB suivie d’une cartographie fine sur une cohorte de 217 GB a identifié un locus fortement associé à la MCL sur le chromosome 2 (22 SNPs, valeur P= 7 x 10-8) avec un haplotype de 1.9 Mb plus fréquent chez les non affectés. Une seconde étude d’association du génome entier sur une cohorte de 113 GB a permis d’identifier un 2 ème locus fortement associé à la MCL sur le chromosome 13 (25 SNPs , valeur P= 3 x 10 -7) avec un haplotype de 4 Mb surreprésenté chez les non affectés. Ces régions candidates constituent la première étape vers l’identification de gènes causatifs pour la MCL. Notre étude offre un point d’entrée vers une meilleure compréhension des mécanismes moléculaires sous-tendant la pathogénèse de la MCI humaine. / Chiari I malformation (CMI) represents a common congenital abnormality of the craniocerebral junction with an estimated incidence of 1 in 1280. CMI is characterized by a descent of the cerebellar tonsils into the foramen magnum, often in association with syringomyelia. The developmental defect in CMI is thought to be the result of an underdeveloped occipital bone and small posterior fossa. The etiology of CMI is thought to be multifactorial involving genetic factors. CMI in humans is similar to a condition in the dog called Chiari-like malformation (CM) that is particularly common in the Griffon Bruxellois (GB) breeds. A genome wide association study on a 56 GB cohort followed by a fine mapping in a 217 GB cohort have identified a locus on chromosome 2 that was strongly associated with CM (22 SNPs, P value= 7 x 10-8). Haploview analysis of this locus identified a haplotype of 1.9 Mb that was more frequent in non-affected dogs. A second genome wide association study in a 113 GB cohort lead to the identification of another locus on chromosome 13 that was strongly associated with CM (25 SNPs , P value= 3 x 10-7). Analysis of this region identified a 4Mb haplotype that was more frequent in non-affected dogs. Our study constitutes the first essential step towards identification of the causative genes in CM. Our study provides an entry point for better understanding of the molecular genetic mechanisms underlying the pathogenesis of human CMI.

Faecal incontinence (FI) is defined as the inability to control bowel movements. The causes of FI are many and diverse. One of the more uncommon reasons for FI is Anorectal Malformations (ARMs). An ARM is a congenital anomaly that affects somewhere between 1/2500 and 1/5000 live born babies. Many ARM patients have persistent FI. Several different procedures have been utilised to address this issue. This thesis aims to evaluate (1) the long-term outcome in adulthood of ARMs in relation to the modern Krickenbeck classification, and (2) scope for treating FI with transanal injection with dextranomer in non-animal stabilised hyaluronic acid (NASHA/Dx), in patients both with and without ARMs. All patients treated for ARMs in Uppsala up to 1993 were invited to participate in a questionnaire study of quality of life and function. The study included 136 patients and compared them with 136 age- and sex-matched controls. The Krickenbeck classification was found to predict functional outcome, and ARM patients had more problems with incontinence and obstipation, as well as inferior Quality of Life (QoL), compared with controls.  Thirty-six patients with FI, owing to causes other than ARMs, were treated with transanal submucous injection of NASHA/Dx. The patients were monitored for two years after treatment. Significant reductions in both their incontinence score and the number of their incontinence episodes were achieved.  A significant improvement in QoL was observed in patients who had at least a 75% reduction in incontinence episodes. No serious complications occurred. A prospective study of transanal injection of NASHA/Dx was conducted on seven patients with persistent FI after ARMs. After six months a significant reduction in the number of incontinence episodes was obtained. A significant improvement in QoL was also found. No serious complications occurred. In conclusion, adult patients with ARMs have inferior outcome of anorectal function and QoL compared with controls. NASHA/Dx is effective and appears to be safe in treating FI in general. This effect seems to be the same in selected patients with persistent FI after ARMs.

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Although headaches are a very common complaint, those accompanied by paresthesia and muscle wasting indicate an underlying neurological disorder. In this review, we present the case of a 58-year-old man with chronic headaches who developed tingling and numbness in his right limbs along with right-hand muscle atrophy.

A poetic examination of the self as well as cycles of trauma and recovery. This manuscript explores poetry's ability to transform one's experiences by re-engaging with them in the realm of the imagination.

No description available.

Les Malformations Artérioveineuses sont des lésions vasculaires évolutives. Elles peuvent avoir des conséquences neurologiques lourdes liées au risque hémorragique élevé qui est leur mode de révélation le plus fréquent. Le développement de meilleurs outils d’imagerie a beaucoup amélioré le diagnostic de ces lésions et a permis une meilleure compréhension de leur interaction avec le tissu cérébral. Néanmoins, Leur 4eme dimension et leur évolution restent encore obscures.Par ailleurs, les traitements actuels (embolisation, microchirurgie, chirurgie stéréotaxique) sont associés à des risques de morbidité et mortalité importants.Pour ces raisons, nous avons travaillé sur un traitement potentiel peu invasif: des agents antiangiogéniques. Un modèle porcin simplifié a été élaboré consistant en l’occlusion unilatérale de l’artère carotide primitive et externe par voie endovasculaire. Ce modèle a présenté des preuves d’angiogénèse et des modifications anatomopathologiques proches de celles des MAVc humaines. Le Bevacizumab, un anticorps monoclonal pour le VEGF, a été administré in situ sur ce modèle. Les résultats ont montré que l’agent antiangiogénique altère l’angiogénèse sur les specimens histologiques. L’épaisseur de la paroi des vaissaux a été stabilisée après l’injection de Bevacizumab mais le volume des retia est demeuré identique montrant que le volume dépend de l’angiogénèse mais probablement également du flux / Brain arteriovenous malformations are dynamic, evolving vascular lesions. They present high morbidity rates due to hemorrhagic presentation that is the most frequent symptom at onset and potentially high mortality rates .Up to date imaging techniques has greatly facilitated the diagnosis of these lesions and the better understanding of their relation to adjacent brain tissue. However, it remains still a challenge to define their four dimensional nature and its consequences, a fact that can actually optimize their treatment. Embolization, surgery and stereotactic radiosurgery that are currently used in the treatment of AVMs carry also significant morbi-mortality risks. For this reason, a potential minimally invasive treatment with antiangiogenic agents was tested. A swine model was firstly created using the animal’s rete mirabile and performing an endovascular occlusion of one common and external carotid artery. This simplified model presented evidence of angiogenesis and histologic findings that are also observed in human AVMs compared to a control group. Secondly, Bevacizumab that is a monoclonal antibody to vascular endothelial growth factor, was in situ administered on this model. The results showed that the antiangiogenic agent tampered angiogenesis on histologic samples by stabilizing the wall thickness of the arteries but it did not have any effect on volume that is probably depending on flow and not only on angiogenesis.

Hokkaido University (北海道大学) / 博士 / 医学