Impact of continuous glucose monitoring on everyday life of young children with type 1 diabetes and their parents: An evaluation of 114 families.

INTRODUCTION: The prevalence of type 1 diabetes is increasing worldwide. The advent of new monitoring devices has enabled tighter glycemic control. AIM: To study the impact of glucose monitoring devices on the everyday life of young children with type 1 diabetes (T1D) and their parents. METHODS: A questionnaire was addressed to parents of children with T1D under the age of 6 years with an insulin pump treated in one of the hospitals of the ADIM network in France between January and July 2020. RESULTS: Among the 114 families included in the study, 53% of parents (26/49) woke up every night to monitor blood glucose levels when their child had flash glucose monitoring (FGM), compared with 23% (13/56) of those whose child had continuous glucose monitoring (CGM). Overall, 81% of parents (86/108) found that glucose monitoring improved their own sleep and parents whose child had CGM were significantly more likely to report improved sleep (86% vs 73%, p = 0.006). Forty-nine percent of parents (55/113) declared that they (in 87% of cases, the mother only) had reduced their working hours or stopped working following their child's T1D diagnosis. Maternal unemployment was significantly associated with the presence of siblings (p = 0.001) but not with glycemic control (p = 0,87). Ninety-eight percent of parents (105/107) think that glucose monitoring improves school integration. CONCLUSION: In these families of children with T1D, new diabetes technologies reduced the burden of care but sleep disruption remained common. Social needs evaluation, particularly of mothers, is important at initial diagnosis of T1D in children.

Clinical, radiological, and molecular diagnosis of congenital pituitary diseases causing short stature.

Short stature in children can be caused by congenital pituitary disorders involving at least one form of growth hormone deficiency. Clinical and radiological evaluations of the index case and family history assessments are essential to guide genetic diagnostic testing and interpret results. The first-line approach is panel testing of genes involved in pituitary development with variants known to be pathogenic in this context. It identifies a genetic cause in less than 10% of cases, however. Whole-exome and whole-genome sequencing techniques may provide original information but also raise new questions regarding the pathophysiological role of identified variants. These new tools can make genetic counselling more complex. The role of clinicians in these interpretations is therefore important. © 2022 French Society of Pediatrics. Published by Elsevier Masson SAS. All rights reserved.

[Investigation of tall stature in children: Diagnostic work-up, review of the main causes]. / Exploration d'une avance staturale chez l'enfant : conduite à tenir pratique, principales étiologies à évoquer.

Tall stature is not a common motive for medical consultation, even though by definition 2.5 % of children in the general population are concerned. It is usually defined as height greater than+2 standard deviations (SD) using the appropriate growth chart for age and gender, or a difference greater than +2 SD between actual height and target height. With a patient presenting tall stature, the physician has to determine whether it is a benign feature or a disease. Indeed, making the diagnosis is essential for hormonal disease or genetic overgrowth syndromes. The past medical history including parents' height, prenatal and birth data, physical examination along with anthropometry (height, weight, head circumference, body mass index), and growth chart evaluation with the detailed growth pattern are generally sufficient to make the diagnosis such as familial tall stature, obesity, or early puberty. Bone age estimation may be helpful for some specific etiologies and is also necessary to help predict final adult height. After exclusion of common causes, further investigation is required. Sudden growth acceleration often reveals endocrine pathology such as early puberty, hyperthyroidism, or acrogigantism. Tall stature accompanied by dysmorphic features, congenital malformations, developmental delay, or a family medical history may be related to genetic disorders such as Marfan, Sotos, or Wiedemann-Beckwith syndromes. We relate here the most frequent etiologies of overgrowth syndromes.

Rapid differential diagnosis of diabetes insipidus in a 7-month-old infant: The copeptin approach.

INTRODUCTION: Diabetes insipidus is characterized by hypoosmotic polyuria related to deficiency of arginine-vasopressin (AVP) secretion (central diabetes insipidus, CDI) or renal insensitivity to AVP (nephrogenic diabetes insipidus, NDI). The water deprivation test with assessment of AVP activity is currently the gold standard for differential diagnosis in patients presenting polyuria-polydipsia syndrome. Nevertheless, it can be dangerous without proper surveillance and its interpretation may be challenging. Other markers have been suggested. Direct quantification of circulating AVP is not sufficient for diagnosis: vasopressin is unstable, analysis is complex. AVP comes from prohormone preprovasopressin with concomitant release of copeptin (C-terminal moiety) in the equimolar ratio. Copeptin is stable in vitro, with easy and rapid measurement (<4h). Past studies have shown greater sensitivity and specificity of copeptin versus AVP to discriminate etiologies of polyuria in adults, but its value has not been demonstrated in infants yet. OBSERVATION: A 7-month-old infant presented polyuria-polydipsia syndrome with poor weight gain. Laboratory tests pointed out hypernatremia (170mmol/L) and blood hyperosmolarity (330mOsm/L) with inappropriate urinary hypoosmolarity (168mOsm/L). Plasmatic copeptin measurement was found at a very high level, 303pmol/L (1-14pmol/L). DdAVP administration did not improve the polyuria, confirming the final diagnosis of NDI. Hyperhydration with a hypoosmolar diet normalized the hydration status and circulating levels of copeptin within 1 week. CONCLUSION: Copeptin, a stable peptide reflecting AVP secretion, could be a safer and faster biomarker for etiological diagnosis of polyuria-polydipsia syndrome in children. Before regularization of hydration status, a single baseline measurement may be enough to discriminate NDI from other etiologies without the water deprivation test.

[Quality assessment of colonscopies in current practice in the Aquitaine area]. / Qualité des coloscopies réalisées en pratique courante dans la région Aquitaine.

UNLABELLED: Sensitivity of colonoscopy depends on the technical quality of the procedure. The aims of this study were to evaluate the usual of colonoscopy in the French area of Aquitaine and to determinate the factors associated with a procedure of good quality. Thirty four gastroenterologists prospectively recorded indications, conditions of practice and results of the colonoscopies that were performed during 4 consecutive weeks. Six hundred and eighty six colonoscopies were analysed, performed in 387 women and 299 men, mean age: 59.9 years. INDICATIONS: irritable bowel syndrome: 34%, patients belonging to high risk groups: 30%, recent transit disturbance: 27%, rectal bleeding: 23%, positive fecal occult blood test: 4.3%. Preparations: polyethylene glycol (PEG) 78%, in 2 doses: 20%; PEG alone: 43%, associated with enemas and laxatives: 19%, with enemas: 14%, with laxatives: 2%; minimum-residue diet before colonoscopy: 58%. The caecum was reached in 86% of colonoscopies. Ninety-nine colonoscopies were incomplete. Fifty one per cent of colonoscopies reached the caecum with visualization of total colic mucosa, 35% reached the caecum with one at least imperfectly seen colic area.(ABSTRACT TRUNCATED AT 250 WORDS)

[Possible sexual transmission of hepatitis C virus]. / Possibilité de transmission du virus de l'hépatite C par voie sexuelle.

The development of hepatitis C virus (HCV) serology has made it possible to identify high-risk populations. The predominant mode of contamination is parenteral, but the relative frequency of the so-called sporadic hepatitis C cannot be explained in this way, and this raises the question of possible sexual contamination. The risk of HCV being transmitted by sexual intercourse has been studied in 30 couples, each with one infected partner. Among the 30 HCV seropositive subjects, 18 were followed up for chronic hepatitis and 2 for haemophilia; 10 were recruited in sessions of blood donation. The other 30 partners were tested for HCV seropositivity and investigated for other possible risk factors by means of a questionnaire. Three of them had antibodies to HCV, but only one, whose partner had chronic hepatitis, showed no other source of contamination. The prevalence of HCV positivity was 3.3 percent overall and 5.5 percent in the chronic hepatitis group. Thus, the risk of HCV heterosexual contamination is low when compared with that of the other sexually transmitted diseases. However, the prevalence of HCV in this population seems to be 5 to 10 times higher on average than in the general population.