Our research was motivated by the growing aging population worldwide and the need to concentrate research efforts on a specific target group; it focuses on elderly persons with physical and cognitive ...deficiencies. The primary goal is to enable persons with mild dementia to maximize their physical and mental functions through assistive technologies in order to be able to continue to participate in social networks and lead independent and purposeful lives. Persons with mild dementia usually have problems in performing activities of daily living due to episodic memory decline. These can include simple activities, such as bathing, changing clothes and preparing meals. Through extended field test trials involving end users, we have demonstrated that assistive technology that provides timely prompts, alarms and reminders can enable them to preserve their abilities and improve their quality of life. Understanding the user context, especially when targeting demented individuals, and providing the required personalized assistive services is the objective of our research work. Finding the appropriate user interface to interact with the provided services is often a barrier. Thus, we have adopted the approach of a multimodal interactive system with the living environment including a TV set, iPad-like tablets, sensors/actuators, and wireless speakers connected to a reasoning engine that is able to consider the complexity of the users’ profile defined by his/her cognitive abilities. In this paper we will mainly focus on the interaction level with the system as well as on the validation stages performed to meet the users’ requirements. This is the result of several years’ work since 2006 in the frame of two projects (IST-FP6 COGKNOW European completed project and AMUPADH ongoing project in Singapore).
Chylomicron retention disease: A rare cause of chronic diarrhea Ben Ameur, S.; Aloulou, H.; Jlidi, N. ...
Archives de pédiatrie : organe officiel de la Société française de pédiatrie,
July 2016, 2016-Jul, 2016-07-00, 20160701, Volume:
23, Issue:
7
Journal Article
Peer reviewed
Chylomicron retention disease (CRD) is a rare autosomal recessive hereditary hypocholesterolemic disorder. The disease most frequently presents in infants and is characterized by a lipid ...malabsorption syndrome with steatorrhea, chronic diarrhea, and growth retardation. The disease is characterized by normal fasting serum triglyceride levels combined with the absence of apolipoprotein (apo) B48 and chylomicrons after a fat load. In this report, we describe the clinical, laboratory, and histological data as well as the molecular DNA analysis of a 12-month-old girl from Tunisia with CRD. The patient was treated with a low-fat diet and fat-soluble vitamin supplementation resulting in significant improvement.
La maladie de rétention des chylomicrons (MRC) est une malabsorption lipidique de transmission autosomique récessive. Elle est due à une incapacité de sécrétion des chylomicrons et de l’apolipoprotéine B48 en période post-prandiale. Elle résulte d’une anomalie du gène codant pour la protéine SAR1B. Elle est méconnue et pose le problème de diagnostic différentiel surtout avec la maladie cœliaque. Le diagnostic précoce permet d’instaurer un traitement le plus tôt possible, évitant la dénutrition sévère et les complications neurologiques. Nous rapportons l’observation d’une enfant de 12 mois d’origine tunisienne hospitalisée pour diarrhée chronique. Le diagnostic de MRC a été évoqué devant une hypocholestérolémie, un taux normal des triglycérides et un aspect lactescent de la muqueuse duodénale à la fibroscopie digestive. L’étude génétique a confirmé le diagnostic. Le régime pauvre en graisses avec supplémentation en vitamines liposolubles a permis une évolution favorable.
Full text
Available for:
GEOZS, IJS, IMTLJ, KILJ, KISLJ, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UL, UM, UPCLJ, UPUK, ZRSKP
3.
Atypical cellulitis of the face in an infant Sellami, K; Maaloul, I; Omri, N ...
Archives de pédiatrie : organe officiel de la Société française de pédiatrie
23, Issue:
10
Journal Article
Peer reviewed
Full text
Available for:
GEOZS, IJS, IMTLJ, KILJ, KISLJ, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UL, UM, UPCLJ, UPUK, ZRSKP
Transient neonatal diabetes mellitus is a rare disease usually associated with chromosome 6 abnormalities. Mutations of the genes encoding the potassium channel are rarely associated with these ...transitional forms. Herein, we report the clinical features of two siblings with a heterozygous mutation C679 G>A in the KCNJ11 gene.
Le diabète néonatal est une maladie génétique rare. Il se définit par l’existence d’hyperglycémies graves liées à l’insuffisance ou à l’absence d’insuline circulante, survenant avant l’âge de 1 an. Les causes génétiques les plus fréquentes de diabète néonatal lié à une anomalie de fonction de la cellule β sont les anomalies du locus 6q24 et les mutations des gènes ABCC8 et KCNJ11. Les anomalies du locus 6q24 sont associées exclusivement à un diabète néonatal transitoire. En revanche, les mutations des gènes ABCC8, KCNJ11 et INS sont associées à la fois à des formes permanentes et des formes transitoires. Nous rapportons deux observations de diabète néonatal transitoire chez deux frères issus de parents non consanguins, nés à terme, avec un retard de croissance intra-utérin. Le diagnostic a été porté vers l’âge de 1 mois. L’étude génétique a mis en évidence une mutation hétérozygote C679G>A du gène KCNJ11 chez les deux frères et leur mère asymptomatique. Les besoins en insuline ont progressivement diminué et ont disparu aux âges de 4 et 5 mois.
Full text
Available for:
GEOZS, IJS, IMTLJ, KILJ, KISLJ, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UL, UM, UPCLJ, UPUK, ZRSKP
Alagille syndrome causes intractable pruritus and disfiguring xanthomas because of retained bile acids and cholesterol. Drug therapy in addition to surgical intervention may be effective in many ...patients in reducing serum bile acids, cholesterol levels, pruritus, and skin xanthomas. In this report, we describe a child with Alagille syndrome who presented with severe pruritus and xanthomas as a consequence of severe hypercholesterolemia and discuss the treatment modalities.
Le syndrome d’Alagille, ou paucité ductulaire syndromique, est une affection multisystémique héréditaire, de transmission autosomique dominante. Il est caractérisé par l’association d’une cholestase chronique à une atteinte cardiaque, oculaire, squelettique et un faciès caractéristique. Il est souvent associé à prurit et à la formation de xanthomes secondaires à l’hypercholestérolémie. Nous discutons à travers une observation les modalités thérapeutiques chez ces patients souffrant souvent de prurit invalidant.
Full text
Available for:
GEOZS, IJS, IMTLJ, KILJ, KISLJ, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UL, UM, UPCLJ, UPUK, ZRSKP
Introduction During the last few decades, an increase in the incidence of type 1 diabetes (DT1) in children was reported in most parts of the word. Aims Study the epidemiologic and clinical ...particularity of (DT1) in our patients. Patients and methods From 2000 to 2011, children under 15 years with newly diagnosed type 1 diabetes mellitus and drown from department of pediatrics in Sfax were ascertained retrospectively. Cases of neonatal diabetes were excluded. Patients were devised on 3 groups: group 1: less than 5 years (107 cases), group 2: 5–10 years (120 cases), group 3: 10–16 years (98 cases). Results The incidence was 27 new cases/year (17–34 cases). There were 166 boys - 159 girls. Median age at diabetes onset was 7 years and 7months. Twenty three percent of the children had a familial history of diabetes type 1 significantly more frequent in group 1. Fifty two percent of all cases were diagnosed in the cold season. The age at introduction of cow milk in alimentation was less than 6 months in 54.4%. Cereals were introduced in alimentation at an age less than 3months in 12.3% of cases. Ketoacidosis revealed diabetes in 55.7% of cases, significantly more frequent in group 1 (66.3%), polyuria and polydipsia were more frequent in group 3 (98%). Hypoglycemia was more frequent in group 1. Conclusion Significant advances have been made in the clinical care, epidemiologic studies have an important on-going role to investigate the complex causes.
Background Mycoplasma pneumonia (MP) infections are often asymptomatic but can involve multiple organ systems. Secondary skin reactions are common, although few patients infected develop Stevens ...Johnson syndrome (SJS). Results We describe 2 cases of Mycoplasma pneumoniae chest infection associated with Stevens Johnson syndrome. The two patients had prodromal symptoms of an upper respiratory tract infection before the onset of the eruption. The patients had extensive epidermal bullous vesicles, oropharyngeal and genital ulceration, injected conjunctivae and sclera and swollen lips with flaccid bullae. The mycoplasma IgG and IgM titers returned positive, and blood cultures and other titers were negative. They were successfully treated with macrolides and glucocorticoids. Conclusion Although the clinical course may be severe and prolonged, the prognosis is uniformly good with complete recovery.
Background In children, idiopathic nephrotic syndrome is primarily treated using corticosteroids. When remission is not achieved, the administration of potent immunosuppressant therapy becomes ...imperative. Cyclosporine A (CsA) is reportedly associated with a higher incidence of remission in comparison with other immunosuppressive agents. The aim of our study is to evaluate the efficiency of cyclosporin A (CyA) therapy in 11 children treated with resistant nephrotic syndrome. Methods Eleven children enrolled in this study were all hospitalized with resistant nephrotic syndrome, aged 1 to 11 years (average 5.8 yrs) and included 7 males and 4 females. CyA was given to each patient with dosage of 5 mg/kg/day during the corticosteroid was diminished. The renwal biopsy was performed in all patients before the administration of CyA. Results Eleven children with resistant nephrotic syndrome of different pathological types were treated with CyA, including 3 cases of minimal change nephrotic syndrome (MCNS), 2 cases of mesangioproliferative glomerulonephritis (MsPGN), 1 case of extra membranous glomerulonephritis (EMGN) and 5 cases of focal segmental glomerular sclerosis (FSGS). Three patients got complete remission, seven patients developed chronic renal insufficiency and one had no change after four month treatment with CyA. The overall response rate was 27%. Patients with different renal pathological types showed different responses. The FSGS cases showed the lowest rate. Conclusion CyA has limited efficiency in patients with steroid-resistant nephrotic syndrome. CyA should be used cautiously because of the potential for CyA nephrotoxicity.
PDF
