Search results for "and Child Health"

205th ENMC International Workshop: Pathology diagnosis of idiopathic inflammatory myopathies Part II 28-30 March 2014, Naarden, The Netherlands.

2015

The idiopathic inflammatory myopathies (IM) are a heterogeneous group of diseases and diagnosis often necessitates a muscle biopsy. Five main entities are recognized: (1) dermatomyositis (DM); (2) polymyositis (PM); (3) necrotizing autoimmune myopathy (NAM); (4) sporadic inclusion body myositis (IBM); and (5) non-specific myositis. Other entities include granulomatous myopathy, macrophagic myofasciitis, and eosinophilic fasciitis (Shulman's syndrome). The pathological classification and subsequent identification of disease subgroups are extremely important for assessing treatment options and prognosis in the individual patient, yet classification criteria have not been standardized and vali…

Quando l’amnios si rompe troppo presto e… da solo

2022

Rupture of the amniochorionic membranes is a recognized risk factor in the second and third trimester for chorioamnionitis, sepsis and preterm delivery. The isolated rupture of amnion is conversely responsible for a malformation spectrum known as early amnion rupture sequence or ADAM (Amniotic Deformity, Adhesions, Mutilations) complex, characterized by asymmetrical congenital anomalies, including limb reduction and craniofacial defects, usually arising during the 2nd or 3rd trimester of gestation. The paper reports the case of a 4-month-old infant who was referred for genetic counselling in the suspicion of malformation syndrome with asymmetrical limb reduction defects. The present case un…

Epidemiology of congenital diaphragmatic hernia in Europe: a register-based study.

2015

INTRODUCTION: Published prevalence rates of congenital diaphragmatic hernia (CDH) vary. This study aims to describe the epidemiology of CDH using data from high-quality, population-based registers belonging to the European Surveillance of Congenital Anomalies (EUROCAT).METHODS: Cases of CDH delivered between 1980 and 2009 notified to 31 EUROCAT registers formed the population-based case series. Prevalence over time was estimated using multilevel Poisson regression, and heterogeneity between registers was evaluated from the random component of the intercept.RESULTS: There were 3373 CDH cases reported among 12 155 491 registered births. Of 3131 singleton cases, 353 (10.4%) were associated wit…

Les compléments neurophysiologiques du diagnostic

2009

Les recherches presentees mettent en evidence des relations entre anomalies comportementales et cognitives et dysfonctionnements cerebraux sous-jacents a partir de methodes d'exploration electrophysiologique non invasives (electroencephalogramme, potentiels evoques auditifs). Trois types de troubles sont etudies : les troubles du sommeil, l'intolerance au changement et l'exploration visuelle atypique des visages humains. La complementarite des approches cliniques et neurophysiologiques est cruciale aux etapes du diagnostic fonctionnel, de l'intervention therapeutique et educative.

207 Diagnosis of Anderson-Fabry Disease in Childhood. What Should We Focus on?

2004

Background: Anderson-Fabry disease (FD) is an X-linked lysosomal storage disorder which also affects female carriers and has an early onset of symptoms in childhood in both genders. Signs and symptoms are frequently misunderstood and often diagnosis is made approximately 10–20 years after their onset. This has been clearly demonstrated by Fabry outcome survey (FOS) a European database on the natural history of FD and the effects of enzyme replacement therapy with agalsidase alfa (Replagal). Methods: Demographic data on 82 children (40 boys and 42 girls) below 18 years of age, with a median age at FOS entry of 12.9 (0.7–17.9) were analysed Results: Most frequently reported symptoms (60–80%) …

Case Report: Primary Peritonitis as the Onset of Pediatric Ménétriers Disease

2021

Introduction: Primary peritonitis (PP) and Ménétrier's Disease (MD) are both rare conditions among pediatric population. Although about 150 MD cases have been described in the scientific literature to date, its onset with a PP is an unusual condition.Case Presentation: We present a case of an 11-year-old boy who was admitted to our unit because of abdominal pain and distension. Complementary tests showed ascites, bilateral pleural effusion, leukocytosis, increased acute phase reactants and hypoproteinemia with hypoalbuminemia. Laparoscopy ruled out appendicitis or visceral perforations and exposed purulent peritoneal fluid, compatible with PP. Biochemical stool analysis showed increased cle…

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1989

Acute leukemia following anticancer treatment

1975

First experience of the AML-Berlin-Frankfurt-Münster group in pediatric patients with standard-risk acute promyelocytic leukemia treated with arsenic…

2017

Recently, studies in adults with acute promyelocytic leukemia (APL) showed high cure rates in low-risk patients treated with all-trans retinoid acid (ATRA) and arsenic trioxide (ATO), while toxicities were significantly reduced compared to the standard treatment with ATRA and chemotherapy. Here we report about first experience with 11 pediatric patients with low-risk APL treated with ATRA and ATO. All patients stayed in molecular remission. All suffered from hyperleukocytosis. Two patients experienced reversible severe side effects. One suffered from osteonecroses at both femurs, seizures, as well as posterior reversible encephalopathy syndrome, the other patient had an abducens paresis.

Worldwide trends in population-based survival for children, adolescents, and young adults diagnosed with leukaemia, by subtype, during 2000–14 (CONCO…

2022

BACKGROUND Leukaemias comprise a heterogenous group of haematological malignancies. In CONCORD-3, we analysed data for children (aged 0-14 years) and adults (aged 15-99 years) diagnosed with a haematological malignancy during 2000-14 in 61 countries. Here, we aimed to examine worldwide trends in survival from leukaemia, by age and morphology, in young patients (aged 0-24 years). METHODS We analysed data from 258 population-based cancer registries in 61 countries participating in CONCORD-3 that submitted data on patients diagnosed with leukaemia. We grouped patients by age as children (0-14 years), adolescents (15-19 years), and young adults (20-24 years). We categorised leukaemia subtypes a…