REDI: budgets de référence pour une vie digne, une application web

En résumé, l’application web REDI permet d’utiliser un cadre de référence uniforme tout en calculant un budget adapté au bénéficiaire. En outre, cet outil peut être un guide pour obtenir un aperçu des dépenses et revenus de la personne et a prouvé sa valeur éducative dans le cadre d’accompagnements individuels des clients. REDI peut contribuer à une plus grande prise de conscience sur le besoin d’uniformité existant au sein des CPAS auprès des assistants sociaux et des conseillers pour l’octroi de soutien financier supplémentaire. En outre, l’utilisation des budgets de référence contribue à ce que les assistants sociaux et conseillers comprennent mieux ce qui est nécessaire pour vivre dans la dignité, et participer pleinement à la vie en société. Espérons que sur le long terme, cela puisse modifier les politiques d’aide sociale et permettre une société plus inclusive.REDI: budget de référence pour une vie digne, une application we

Congenital nystagmus and central hypothyroidism

We observed a male newborn with bilateral nystagmus and central hypothyroidism without hypoprolactinemia due to a deletion of chromosome band Xq26.1q26.2, containing FRMD7 and IGSF1. These two loss-of function mutations are known to cause, respectively, congenital nystagmus and the ensemble of central hypothyroidism, hypoprolactinemia and testicular enlargement. These latter two features may not yet be present in early life.status: publishe

Growth Failure in Children with Systemic Juvenile Idiopathic Arthritis and Prolonged Inflammation despite Treatment with Biologicals: Late Normalization of Height by Combined Hormonal Therapies

BACKGROUND: Biologicals targeting the interleukin (IL)-1β or IL-6 pathway are becoming prime choices for the treatment of children with systemic juvenile idiopathic arthritis (sJIA). Up to 1 in 3 sJIA children receiving such treatment continues to have inflammatory activity and to require supra-physiological glucocorticoid doses which may reduce growth velocity for years and may lead to an extremely short stature for age, if not for life. Currently, there is no long-term proposal to normalize the adult height of these children with sJIA. METHODS AND RESULTS: We present long-term (up to 10 years), proof-of-concept evidence that the adult stature and adipose body composition of short sJIA children can be normalized with a hormonal combination strategy: (i) pubertal onset is postponed with a gonadotropin-releasing hormone analog (triptorelin) until a minimum height is reached, or until prepubertal growth is exhausted, and (ii) height gain is promoted with growth hormone (≈50 μg/kg/day), once inflammation is under control and high glucocorticoid doses are no longer needed. The latter treatment takes advantage of the window of relative glucocorticoid deficiency, which is known to open after prolonged glucocorticoid administration, and to be uniquely favorable to height gain. CONCLUSION: A long-term combination of biological and hormonal treatments for short sJIA children can be guided by a simple concept that involves (i) postponement of pubertal development and (ii) growth-promoting therapy after the episodes of major inflammation and high-dose glucocorticoid treatment. Limited long-term experience in short sJIA children suggests that this strategy leads consistently - albeit late - to a normal adult stature.status: publishe

Les budgets de référence en tant que mesure de l’efficacité de la protection sociale. Également testés sur la population

peer reviewe

Expanding the CHARGE Geno-Phenotype: A Girl with Novel CHD7 Deletion, Hypogonadotropic Hypogonadism, and Agenesis of Uterus and Ovaries.

BACKGROUND: CHARGE syndrome is a variable entity. Clinical diagnosis is based on the Blake-Verloes criteria and can be confirmed by identifying a mutation or deletion in the CHD7 gene. Hypoplasia of the male genitalia and lack or incomplete secondary sexual development in both sexes is a common feature, and is most often attributable to hypogonadotropic hypogonadism which is described in >80% of the CHARGE patients. Other genital anomalies in CHARGE patients are rare. METHODS AND RESULTS: We describe the case of a girl with a novel heterozygous deletion in exon 15 of the CHD7 gene and combined agenesis of uterus and ovaries, besides gonadotropin deficiency, thus expanding the geno-phenotype of CHARGE syndrome. CONCLUSION: In case of persistent primary amenorrhea, despite estrogen replacement, this unusual combination should be considered in girls with CHARGE syndrome

REDI: Budgets de référence pour une vie digne, une application web

status: publishe

Expanding the CHARGE Geno-Phenotype: A Girl with Novel CHD7 Deletion, Hypogonadotropic Hypogonadism, and Agenesis of Uterus and Ovaries

CHARGE syndrome is a variable entity. Clinical diagnosis is based on the Blake-Verloes criteria and can be confirmed by identifying a mutation or deletion in the CHD7 gene. Hypoplasia of the male genitalia and lack or incomplete secondary sexual development in both sexes is a common feature, and is most often attributable to hypogonadotropic hypogonadism which is described in >80% of the CHARGE patients. Other genital anomalies in CHARGE patients are rare.status: publishe

REMI: referentiebudgetten voor een menswaardig inkomen. Een webapplicatie

status: publishe