Search

Objectives The study aims at evaluating glucose metrics and HbA1C values after pump initiation in outpatient settings. Research design and methods This single center observational study enrolled 121 subjects with type 1 diabetes between September 2020 and May 2021 initiating sensor-augmented pump therapy with stand-alone CGM (n = 26) or pump users who only changed their device (n = 51), with predictive low glucose management (n = 8) or with Hybrid Closed Loop using Medtronic 780G (n = 36) systems. Changes in HbA1C levels and glucose metrics were analyzed after 3 months. All subjects received diabetes and carbohydrate-counting education if needed at time of initiation and were proposed a telehealth monitoring by a diabetic nurse educator. Results There was no episodes of severe hypoglycemia or diabetic ketoacidosis nor serious pump-related adverse events despite outpatient model of care. While only 18/121 (14.8%) participants reached initially the recommended HbA1C levels, 23/85 (27%) in the conventional group and 33/36 (91%) subjects in the Hybrid Closed Loop group reached target levels after 3 months of follow-up. Time in target range 3.9–10 mmol/L (70–180 mg/dl) also improved and was optimal with closed loop with 30/36 (83%) subjects with time in range above 70%. Conclusions Initiation of insulin pump therapy for outpatients is safe with a dedicated facility. Telehealth monitoring after outpatient initiation provides tools for improvement in glucose control with an insulin pump. Outpatient pump initiation is compatible with Hybrid Closed Loop systems which provide the largest improvements in glucose control.

Resume Tout retard de croissance staturo-ponderale conduit generalement le medecin referent a adresser l’enfant a une equipe hospitaliere. Souvent, a l’issue d’un bilan complementaire, un diagnostic est pose et un traitement instaure. Mais certaines situations aboutissent a une errance et a un retard diagnostiques qui pourraient parfois etre evites des le debut de la prise en charge par un examen des urines a la bandelette (BU). Nous presentons un cas clinique illustrant l’importance de cet examen de debrouillage simple. La BU oriente rapidement vers une cause renale (glycosurie, proteinurie), en particulier une tubulopathie proximale dont la cause la plus frequente est la cystinose. Un syndrome polyuro-polydipsique y est le plus souvent associe et doit etre soigneusement recherche a l’interrogatoire. La particularite de la cystinose est d’avoir un traitement dont l’âge d’instauration conditionne le pronostic et le delai de survenue de l’insuffisance renale terminale. La BU devrait faire partie du bilan systematique d’un retard de croissance staturo-ponderale.

Understanding the pathogenesis of type-I diabetes (T1D) is hindered in humans by the long autoimmune process occurring before clinical onset and by the difficulty to study the pancreas directly. Alternatively, exploring body fluids and particularly peripheral blood can provide some insights. Indeed, circulating cells can function as 'sentinels', with subtle changes in gene expression occurring in association with disease. Therefore, we investigated the gene expression profiles of circulating blood cells using Affymetrix microarrays. Whole-blood samples from 20 first-degree relatives of T1D children with autoimmune diabetes-related antibodies, 19 children immediately after the onset of clinical T1D and 20 age- and sex-matched healthy controls were collected in PAXgene tubes. A global gene expression analysis with MDS approach allowed the discrimination of pre-diabetic subjects, diabetic patients and healthy controls. Univariate statistical analysis highlighted 107 distinct genes differently expressed between these three groups. Two major gene expression profiles were characterized, including type-I IFN-regulated genes and genes associated with biosynthesis and oxidative phosphorylation. Our results showed the presence of early functional modifications associated with T1D, which could help to understand the disease and suggest possible avenues for therapeutic interventions.

Summary Aim To evaluate the effectiveness and feasibility of reinforced follow-up via telecare mediated by the local pharmacist in contact with the hospital team to improve glycaemic control in children and adolescents with type 1 diabetes (DT1). Methods One hundred patients, aged 8 to 17 years, with a history of DT1 of more than 1 year, with HbA 1c ≥ 8%, were randomly assigned to either the "reinforced follow-up" group (RFG) or the "usual follow-up" group (UFG). The intervention consisted in downloading and then printing data stored in a glucometer every two weeks, by the local pharmacist. Printouts were faxed to the hospital team which then communicated adapted instructions for better glycemic control directly to the family. Results Fifty patients were assigned to each group. The two groups were comparable at the beginning. 71 children had a doctor's visit at 6 ± 1 months (36 in RFG and 35 in UFG). At this date, there was no significant difference between the average HbA 1c levels of the two groups (9.12 ± 1.46 in RFG versus 9.27 ± 1.20 in UFG). We had various difficulties setting up and gaining compliance with the intervention procedure, which explains why only 33 children in the RFG transmitted at least one fax. Conclusion At this stage, the reinforced follow-up has not proved to be superior to the usual follow-up. However, it would be possible to make numerous improvements in order to make the former more feasible and probably more efficient.

Resume Introduction. – L'adrenoleucodystrophie liee a l'X (ALD) est la plus frequente des leucodystrophies. Le phenotype est tres variable chez les garcons et plus de la moitie des conductrices presentent des signes cliniques apres 40 ans. Observation. – Le diagnostic d'ALD fut porte chez une proposante de 40 ans sans histoire familiale sur une symptomatologie de paraparesie spastique et de troubles sphincteriens. L'etude des acides gras a tres longues chaines (AGTLC) fut realisee chez son fils âge d'un an afin de mettre en place un suivi endocrinien et neurologique adapte. Il etait porteur et une insuffisance surrenalienne fut mise en evidence. Une IRM cerebrale biannuelle sera proposee a partir de quatre ans. La mere de la proposante presentait un dosage anormal d'AGTLC. Le bilan fut etendu aux deux sœurs et a la tante de la patiente, conductrices potentielles, mais egalement a son frere et ses oncles. Une mutation du gene ABCD1 produisant un decalage du cadre de lecture a ete identifiee, et permettra un depistage des conductrices et un diagnostic prenatal fiable. Conclusion. – Le diagnostic d'ALD doit etre evoque chez une patiente presentant une atteinte medullaire, meme en l'absence d'histoire familiale. Les consequences d'un tel diagnostic sont importantes puisque les garcons de la famille peuvent etre porteurs de la mutation et que les conductrices ont un risque de donner naissance a un garcon atteint et d'exprimer elles-memes la maladie.

The main contribution to genetic susceptibility for type 1 diabetes (T1D) is conferred by the HLA class II genes, with a major involvement of the DQB1*02 and 0302 alleles. The aim of our study was to develop a simple and rapid method suitable for identifying individuals with an HLA-associated T1D risk using whole blood as a source of DNA and reverse hybridization on microtiter plates (ELOSA). DNA was extracted from whole blood using various extraction methods. The PCR-amplified second exon of the DQB1 gene was hybridized at 37 degrees C for 1 hr to a set of 11 capture probes immobilized on a microtiter plate (eight-well strip per test) and corresponding to T1D susceptibility (S), protection (P), or neutral (N) alleles. Colorimetric analysis was then performed using specific oligonucleotides coupled to horseradish peroxidase and OrthoPhenyl Peroxidase (OPD) substrate. DNA samples corresponding to French (Rhône-Alpes area) T1D patients (n = 128) have been genotyped with the HLA-T1D prototype. A strong correlation is observed between susceptible genotypes and the disease, because 92.2% of the T1D individuals screened have at least one susceptible allele (DQB1*02 or *0302), thereby strengthening interest in analyzing DQB1 alleles as HLA-linked T1D markers in our Rhône-Alpes area population. Interestingly, clear T1D-associated genotyping results have been observed when using DNA samples extracted from dried blood spots, making it possible to envisage such genotyping in geographically dispersed affected families, for large-scale newborn screening, and for the inclusion of high-risk patients in clinical trials aimed at preventing the disease.

Observation of stunted growth in children usually leads the general practitioner to refer the patient to endocrinologists or gastroenterologists. In most cases, after a complementary check-up, the diagnosis is made and treatment is initiated. However, certain cases remain undiagnosed, particularly renal etiologies, such as proximal tubulopathy. The urine strip test at the initial check-up would be an easy and inexpensive test to avoid delayed diagnosis. The aim of the present paper is to increase general physicians' and pediatricians' awareness of the significance of questioning the parents and using the urine strip test for any child presenting stunted growth. We report a patient case of a 20-month-old child admitted to the emergency department for severe dehydration. He had displayed stunted growth since the age of 5 months and showed a negative etiologic check-up at 9 months of age. Clinical examination at admission confirmed stunted growth with loss of 2 standard deviations and signs of dehydration with persistent diuresis. Skin paleness, ash-blond hair, and signs of rickets were also observed and the urine strip test showed positive pads for glycosuria and proteinuria. Polyuria and polydipsia were also revealed following parents' questioning, suggesting proximal tubulopathy (Fanconi syndrome). Association of stunted growth, rickets, polyuria and polydipsia, glycosuria (without ketonuria and normal glycemia), and proteinuria suggest nephropathic cystinosis. Ophthalmic examination showed cystine deposits in the cornea. The semiotic diagnosis of nephropathic cystinosis was confirmed by leukocyte cystine concentrations and genetic investigations. This case report clearly illustrates the significance of the urine strip test to easily and quickly concentrate the diagnosis of stunted growth on a renal etiology (glycosuria, proteinuria), especially on proximal tubulopathy for which the most frequent cause is nephropathic cystinosis. Specificity of nephropathic cystinosis treatment is that the age of treatment initiation is crucial and determinant for the prognosis of the disease and the onset of final stage renal failure. Therefore, the urine strip test should be included in the systematic check-up of stunted growth to identify any renal etiology.

Objectif Le transporteur de zinc ZnT8 est un antigene majeur des cellules beta. Des etudes ont montre que les anticorps (Ac) anti-ZnT8 ameliorent la sensibilite de detection des sujets diabetiques de type 1 (DT1) et des sujets avec un DT1 lent (LADA) en addition aux autres anticorps specifiques des ilots de Langerhans. L’objectif etait d’etudier l’apport diagnostique des Ac anti-ZNT8 dans une cohorte de « vraie vie » pediatrique et adulte. Materiel et methodes Cette etude retrospective a inclus 516 patients (215 enfants et 301 adultes) pour lesquels un dosage des Ac anti-GAD, anti-IA2 et anti-ZnT8 a ete realise. Les Ac anti-GAD et anti-ZnT8 ont ete testes par Elisa (Medizym®, Medipan), les anti-IA2 ont ete testes par Elisa (Medizym®, Medipan) ou par dosage radio-immunologique (Cisbiointernational). Resultats Parmi les 228 patients presentant un diabete auto-immun, les prevalences des Ac anti-GAD, anti-IA2 et anti-ZnT8 etaient respectivement de 64 %, 33 % et 48 %. 73 % des patients presentaient des Ac anti-GAD et/ou anti-IA2 positifs. En ajoutant les Ac anti-ZnT8, 81 % avaient au moins un Ac positif (augmentation de la sensibilite de detection de 8 %). Chez les patients testes a la decouverte du diabete auto-immun (n = 120, âge moyen : 11,36 ans), les Ac anti-ZnT8 etaient positifs chez 68 % des sujets et positifs de maniere isolee chez 7 % des sujets. Conclusion Les Ac anti-ZnT8 augmentent la sensibilite de detection des sujets DT1 ou LADA en addition aux Ac anti-GAD et anti-IA2, et le couple Ac anti-GAD/anti-ZnT8 semble plus performant que le couple Ac anti-GAD/anti-IA2 pour detecter les diabetes auto-immuns.

X-linked adrenoleukodystrophy (ALD) is the most frequent type of leukodystrophy (1/17 000 males). The phenotypic range in male patients varies from the severe cerebral presentations in children to the milder myeloneuropathy and to isolate adrenal insufficiency. More than a half of the carrier females display clinical symptoms over the age of 40 years.Diagnosis of ALD was raised in a 40 year-old female who presented with spastic paraparesis and sphincterian dysfunction, occurring after the delivery of her first child. There was no family history of ALD. Very long-chain fatty acids (VLFCA) were assayed in her one-year-old son in order to propose appropriate hormonal and neurological survey. His dosage was abnormal and an adrenal insufficiency was subsequently found. A brain MRI will be proposed biannually when he reaches to age of for years. The proband's mother had an increased level of VLCFA, showing that she was a carrier. Family screening was extended to the proband's sisters and maternal aunt who already had children, but also to her brother, who may express a mild form of the disease later on, and to her maternal uncles who might be asymptomatic carriers. A frameshift mutation was found in the ABCD1 gene and will allow accurate carrier identification and prenatal diagnosis in the family.ALD diagnosis should be evoked in a woman affected by myelopathy despite the lack of family history. Such a diagnosis has severe consequences since some of the related males may carry the mutation although they do not display any symptom at time of diagnosis, and because carrier females have a risk to both have a clinical expression of the disease and give birth to an affected boy.