Détermination de la dose infantile des polluants environnementaux à partir des modèles pharmacocinétiques

Mémoire numérisé par la Direction des bibliothèques de l'Université de Montréal.

Détermination de la dose infantile des polluants environnementaux à partir des modèles pharmacocinétiques

Mémoire numérisé par la Direction des bibliothèques de l'Université de Montréal.

L'intervention de l'État pour protéger les enfants contre l'obésité infantile : quelles mesures possibles?

Le présent essai s’intéresse aux mesures de protection offertes par la législation québécoise en matière de droit de l’enfant, à travers le Code civil du Québec et la Loi sur la protection de la jeunesse. Ces mesures seront analysées pour évaluer leur applicabilité et leur pertinence à l’égard de la problématique de l’obésité infantile, un problème de santé publique de plus en plus préoccupant au Québec comme ailleurs dans le monde. L’étude révèle que le fait de fournir des aliments malsains à son enfant et de lui transmettre de mauvaises habitudes de vie sont des gestes qui pourraient théoriquement être considérés comme des manquements aux devoirs d’entretien et d’éducation, attributs de l’autorité parentale. Ces gestes peuvent également être perçus comme de la négligence sur le plan physique et sur le plan de la santé. Dans ces cas, certaines mesures sont applicables selon la situation.

Osteomyelitis of the maxilla in a patient with Malignant Infantile Osteopetrosis

Osteopetrosis is characterized by a considerable increase in bone density resulting in defective remodeling, caused by failure in the normal function of osteoclasts, and varies in severity. It is usually subdivided into three types: benign autosomal dominant osteopetrosis; intermediate autosomal recessive osteopetrosis; and malignant autosomal recessive infantile osteopetrosis, considered the most serious type. The authors describe a case of chronic osteomyelitis in the maxilla of a 6-year-old patient with Malignant Infantile Osteopetrosis. The treatment plan included pre-maxilla sequestrectomy and extraction of erupted upper teeth. No surgical procedure was shown to be the best to prevent the progression of oral infection. Taking into account the patient's general condition, if the patient develops severe symptomatic and refractory osteomyelitis surgery should be considered. The patient and his family are aware of the risks and benefits of surgery and its possible complications.

The Outcome of Infantile Onset Pompe Disease in South of Iran

Background: Infantile Onset Pompe Disease (IOPD) is a rare autosomal recessive neuromuscular disorder. It is associated with cardiomegaly, hypotonia, paresis, and death in the first year of life. Since 2006, following the use of Alglucosidase alfa as Enzyme Replacement Therapy (ERT), the patients’ survival is improved to a noticeable extent. Objectives: The purpose of this study is to examine the outcome of IOPD patients in South of Iran and the degree of responsiveness to ERT. Patients and Methods: All patients who were diagnosed with IOPD on the bases of clinical symptoms, and enzyme assay on dried blood spot, were included in the study; and were followed up regarding cardiac function, locomotor activity, and cognition. Results: Six patients with IOPD were identified. All these six patients suffered from Hypertrophic Cardiomyopathy (HCM). Four (67%) of them also had generalized hypotonia. Three patients expired during the first weeks due to severe respiratory infection. One of them also got involved with Acute Cardiopulmonary Failure while receiving the fifth dose of ERT; and expired. However, the remaining two patients had a significant improvement after the maximum of 117 weeks of following up both cardiac and locomotor findings. These two patients were the same patients who showed cardiac symptoms from the beginning but did not have generalized hypotonia. Conclusions: Although ERT has a significant effect on enhancing the survival of IOPD patients, it should be associated with meticulous heart-respiratory cares during the first months of treatment and preventing infection especially nosocomial infections.

Prenatal Diagnosis of Infantile Neuroaxonal Dystrophy

Infantile Neuroaxonal Dystrophy (INAD1, MIM # 256600), is a rare autossomal recessive neurodegenerative disorder. The clinical picture is characterized by psychomotor regression and hypotonia, which progresses to spastic tetraplegia, visual impairment and dementia. Onset is within the first 2 years of life and death usually happens before the age of 10. In 2006, Morgan et al described that mutations in PLA2G6 gene localized in chromosome 22 (22q13), caused INAD1. Evidence showed that a large proportion of patients with infantile neuroaxonal dystrophy have a mutation in the PLA2G6 gene. A 36-years-old pregnant woman presented for obstetric follow up. It was the second pregnancy of this healthy, nonconsanguineous couple. Their 7 year-old daughter was affected with Infantile Neuroaxonal Dystrophy. Molecular testing was done in the child and, as a causal mutation was detected, it was possible to offer a specific prenatal diagnosis. The molecular study of PLA2G6 gene by amniocentesis showed the presence of a mutation in heterozygoty and the karyotype was normal for a female foetus. To our knowledge, this is the first molecular prenatal diagnosis of INAD1 in Portugal.

Obesità infantile: abitudini alimentari e stili di vita delle famiglie. Un'analisi sociologica sul territorio riminese

L'obesità infantile può essere considerata una delle maggiori sfide sanitarie del XXI secolo. In Italia, la fascia d'età più colpita è quella tra i 6 e gli 11 anni. L'infanzia e l'adolescenza non solo influenzano lo sviluppo fisico, cognitivo e sociale dell'adulto, ma anche l'aspettativa di vita. Inoltre, l'interruzione dell'insegnamento in classe e le misure di contenimento di Covid-19 hanno aumentato il comfort food, la sedentarietà e la vulnerabilità socio-economica delle famiglie. Lo scopo del lavoro di ricerca è stato quello di studiare i fattori sociali che hanno influenzato le abitudini alimentari e gli stili di vita delle famiglie con bambini di età compresa tra i 6 e gli 11 anni, all'interno dell'ambiente di socializzazione primario (famiglia) e secondario (scuola e altre istituzioni) anche durante la pandemia di COVID-19. La ricerca è stata condotta in Emilia-Romagna nella città di Rimini e poi estesa al contesto europeo contemporaneo. Per indagare questo punto, è stata utilizzata una metodologia in parte qualitativa e in parte quantitativa. L'approccio mosaico composto da 15 interviste semi-strutturate; 8 focus group e 5 etnografie ha permesso di costruire un questionario, online e cartaceo, somministrato a 361 genitori. I principali risultati rivelano che (1) i bambini sono ingrassati durante il periodo di Covid; (2) esiste una correlazione tra il peso della madre e il peso del bambino; (3) le madri sottovalutano l'obesità dei figli.

Ruolo dell'attività di arrampicata nel percorso abilitativo del bambino affetto da Paralisi Cerebrale Infantile: Scoping Review

Background: La paralisi cerebrale infantile (PCI) è una frequente causa di disabilità nei bambini e nei giovani adulti. Consiste in un gruppo di disturbi neurologici permanenti che causano primariamente limitazioni e disfunzioni nello sviluppo motorio; a tali disturbi possono associarsi problematiche sensoriali e cognitive. Una specifica Arrampicata sportiva, mediante una parete adattiva, può essere un’interessante attività terapeutica da associare al tradizionale programma abilitativo per i bambini con PCI. Obiettivo: L’obiettivo di questa Scoping Review è quello di andare a studiare, approfondire e sintetizzare le evidenze della ricerca rispetto al ruolo della parete di arrampicata come attività aggiuntiva e di sostegno all’interno del progetto abilitativo dei bambini affetti da paralisi cerebrale infantile. Metodi: La ricerca sistematica e bibliografica è stata realizzata mediante la consultazione di banche dati, riviste di giornali e grey literature. È stata effettuata un’analisi degli articoli pertinenti rispetto al quesito clinico di partenza: “Cosa ci dice la Letteratura esistente in merito al ruolo dell’attività di Arrampicata nel percorso abilitativo del bambino affetto da Paralisi Cerebrale Infantile?”. Risultati: Dalla selezione sono stati inclusi 8 articoli, eterogenei tra loro rispetto alla tipologia di studio. Il processo di selezioni delle fonti di evidenza è stato riepilogato tramite un diagramma di flusso. I contenuti di ogni articolo sono stati schematizzati in una tabella sinottica e in seguito sintetizzati per ciascuno obiettivo dello studio, partecipanti, intervento e risultati. Conclusioni: I risultati mostrano come nei bambini con PCI un’adattata attività di arrampicata, inserita in un programma fisioterapico, sia uno strumento terapeutico aggiuntivo nel determinare un miglioramento della mobilità e del controllo motorio, principalmente di arti superiori, in funzione di un maggior sviluppo delle abilità nelle ADL.

Protocolos de investigação de variáveis psicológicas na epilepsia infantil

Epilepsy is a common chronic condition in the childhood and its diagnosis reveals psychological, social and family difficulties, that seem to be related with beliefs and quality of parents-children interaction. The purpose of this paper is to schematize investigation strategies for the psychological variables: beliefs, impact of the disease, family relationship, identification of changes. Based upon collected reports of epileptic children's parents and upon surveyed aspects of the literature, psychological questionnaires were elaborated to identify important variables that affect the child's epilepsy life and his family. The use of more appropriate investigation procedures facilitates the psychological evaluation and ensures the collection of data.

Neuronal ceroid-lipofuscinosis, a type of amaurotic family idiocy: clinical and pathological study of four cases

Neuronal ceroid-lipofuscinosis (NCL) is a recent term, proposed for acurate designation of the late-onset types of Amaurotic Family Idiocy (AFI). Histopathology shows ubiquitous intraneuronal accumulation of lipopigments, being the most important factor for characterization of the entity at present time. Biochemical changes and pathogenesis are obscure. NCL is in contrast to the infantile type of AFI (Tay-Sachs disease), in which intraneuronal accumulation of gangliosides (sphingolipids) is due to the well known deficiency of a lysosomal enzyme. The authors report on four cases of NCL, two brothers of the late infantile (Jansky-Bielschowsky) type and a brother and a sister of the juvenile (Spielmeyer-Sjögren) type. One autopsy and three cortical biopsies revealed moderate to severe distention of the neurons by lipopigment, with nerve cell loss, gliosis and cerebral atrophy. Lipopigment was also increased in liver, heart and spleen. The patients were the first in Brazilian literature in whom the storage material was identified as lipopigment by histochemical methods. A brief summary of the clinical features of NCL is presented, and relevant problems are discussed, concerning interpretation of the nature of the storage material, and significance of the disease for gerontological research.

Tratamento clínico da epilepsia resistente

The authors analysed 34 cases of resistant epilepsy (20 males and 14 females, mean age 23 years), treated clinically between February/1984 and May/1986. The patients underwent neurological, neuropsychological, psychological, psychiatric, cerebrospinal fluid, electroencephalographic, tomographic and/or angiographic examination. Most of the patients had complex partial seizures. The etiology was unknown in 19 patients (55.8%), probable neurocysticercosis in 6, perinatal hypoxia in 5, delivery trauma in 3 and probable sequelae of encephalitis in 2 patients. There was a clear past history of infantile febrile convulsion in 2 patients. Most patients received carbamazepine (mean dose 24.5 mg/kg/day), phenytoin (5 mg/kg and valproic acid (28 mg/kg) as monotherapy or in association. Twenty-two patients (64.7%) had more than 80% decrease of the seizure frequency. Nine resistant epilepsy-cases (24.5%) were evaluated as candidates for surgical therapy. The authors concluded that the resistant epilepsy is best managed by a specialised, multidisciplinary team, and pointed out the need of a correct diagnosis of the seizure type, an adequate drug therapy and a good engagement of the patient and his family in the treatment.

A educação física na educação infantil e as relações de gênero : educando crianças ou meninos e meninas?

Universidade Estadual de Campinas . Faculdade de Educação Física

Estudo das lesões agudas da ginastica artistica feminina na infancia, a partir da população em treinamento em Campinas, S.P

Universidade Estadual de Campinas. Faculdade de Educação Física