ROHHAD syndrome without rapid-onset obesity: A diagnosis challenge

peer reviewedBackgroundROHHAD syndrome (Rapid-onset Obesity with Hypothalamic dysfunction, Hypoventilation and Autonomic Dysregulation) is rare. Rapid-onset morbid obesity is usually the first recognizable sign of this syndrome, however a subset of patients develop ROHHAD syndrome without obesity. The prevalence of this entity is currently unknown. Alteration of respiratory control as well as dysautonomic disorders often have a fatal outcome, thus early recognition of this syndrome is essential.Material and methodsA retrospective, observational, multicenter study including all cases of ROHHAD without rapid-onset obesity diagnosed in France from 2000 to 2020.ResultsFour patients were identified. Median age at diagnosis was 8 years 10 months. Median body mass index was 17.4 kg/m2. Signs of autonomic dysfunction presented first, followed by hypothalamic disorders. All four patients had sleep apnea syndrome. Hypoventilation led to the diagnosis. Three of the four children received ventilatory support, all four received hormone replacement therapy, and two received psychotropic treatment. One child in our cohort died at 2 years 10 months old. For the three surviving patients, median duration of follow-up was 7.4 years.ConclusionROHHAD syndrome without rapid-onset obesity is a particular entity, appearing later than ROHHAD with obesity. This entity should be considered in the presence of dysautonomia disorders without brain damage. Likewise, the occurrence of a hypothalamic syndrome with no identified etiology requires a sleep study to search for apnea and hypoventilation. The identification of ROHHAD syndrome without rapid-onset obesity is a clinical challenge, with major implications for patient prognosis

Usage des indicateurs de qualité en établissement de santé

International audienceThe French Health Ministry is testing a set of quality measures in a group of hospitals, in order to expand it to the whole system. These measures are supposed to produce different effects according to the stakeholder’s interest. On one hand, for hospital managers, quality indicators are supposed to assist the decision making process. On the other hand, for health authorities, quality indicators are supposed to produce a global view of the entire system.This framework raises the question of how top hospital managers are using quality measures. We explore the uses of quality measures in two large French hospitals. Based on our observations and on twenty interviews, our results suggest, firstly, that there are two main uses of quality measures, which we characterize as bureaucratic and managerial. Secondly, the bureaucratic and managerial uses coexist in each organization. However, the attitude of top managers towards quality measures does not influence its use in hospitals.Actuellement les indicateurs de qualité se multiplient au sein des établissements de santé. Au niveau national, les régulateurs de soins souhaitent en généraliser l'usage, dans le cadre de procédures de traitement annuelles avec publication de résultats comparatifs. Ainsi que nous l'expliquons, les indicateurs sont associés à une « doctrine d'usage » : ils sont censés produire certains effets. Pour les régulateurs de soins, les indicateurs qualité ont vocation à être utilisés comme outils de reporting, permettant d'avoir une vue d'ensemble de la situation des établissements de santé. Pour les établissements, les indicateurs ont vocation à être utilisés comme des supports pour le diagnostic et pour l'action, dans un objectif d'amélioration de la qualité. La question à laquelle nous nous intéressons est de savoir quelles sont les pratiques d'usage de ces indicateurs, au sein des établissements de santé. Nous cherchons à établir si les outils font l'objet d'une pratique bureaucratique, ou bien d'un usage à des fins de pilotage pour l'action. Les résultats de l'étude de cas font apparaître que les mêmes indicateurs peuvent faire à la fois l'objet d'un usage bureaucratique, et être effectivement utilisés de manière opérationnelle par l'établissement. Par ailleurs, il est difficile de déterminer quel rôle joue l'utilisation des indicateurs par les pouvoirs publics. Enfin, la légitimité de l'indicateur comme artefact ne détermine pas l'usage qui sera fait de cet outil de gestion. En revanche, il semble que la nature des résultats obtenus constitue une incitation directe à l'action de la part des établissements

Constituer un corpus d'études à partir de différentes sources de données orales : quelle méthodologie et quelle solution proposer ?

International audienc

Perineal Wound Closure Following Abdominoperineal Resection and Pelvic Exenteration for Cancer: A Systematic Review and Meta-Analysis

International audienceBackground. Abdominoperineal resection (APR) and pelvic exenteration (PE) for thetreatment of cancer require extensive pelvic resection with a high rate of postoperative complications.The objective of this work was to systematically review and meta-analyze the effects of vertical rectusabdominis myocutaneous flap (VRAMf) and mesh closure on perineal morbidity following APR andPE (mainly for anal and rectal cancers). Methods. We searched PubMed, Cochrane, and EMBASE foreligible studies as of the year 2000. After data extraction, a meta-analysis was performed to compareperineal wound morbidity. The studies were distributed as follows: Group A comparing primaryclosure (PC) and VRAMf, Group B comparing PC and mesh closure, and Group C comparing PCand VRAMf in PE. Results. Our systematic review yielded 18 eligible studies involving 2180 patients(1206 primary closures, 647 flap closures, 327 mesh closures). The meta-analysis of Groups A and Bshowed PC to be associated with an increase in the rate of total (Group A: OR 0.55, 95% CI 0.43–0.71;p < 0.01/Group B: OR 0.54, CI 0.17–1.68; p = 0.18) and major perineal wound complications (Group A:OR 0.49, 95% CI 0.35–0.68; p < 0.001/Group B: OR 0.38, 95% CI 0.12–1.17; p < 0.01). PC was associatedwith a decrease in total (OR 2.46, 95% CI 1.39–4.35; p < 0.01) and major (OR 1.67, 95% CI 0.90–3.08;p = 0.1) perineal complications in Group C. Conclusions. Our results confirm the contribution of theVRAMf in reducing major complications in APR. Similarly, biological prostheses offer an interestingalternative in pelvic reconstruction. For PE, an adapted reconstruction must be proposed withspecialized expertise

Killer immunoglobulin‐like receptor genotypes and chronic myeloid leukemia outcomes after imatinib cessation for treatment‐free remission

International audienceNatural Killer (NK) cells are innate lymphoid cells that can be cytotoxic toward a large panel of solid tumors and hematological malignancies including chronic myeloid leukemia (CML). Such a cytotoxicity depends on various receptors. Killer immunoglobulin‐like receptors (KIR) belong to these receptors and are involved in maturation process, then in the activation abilities of NK cells. Methods: We investigated the prognostic impact of the KIR2DL5B genotype in 240 CML patients included in two clinical trials investigating tyrosine kinase inhibitors (TKI) discontinuation: STIM and STIM2. Results: After adjustment for standard risk factors in CML, we found that the inhibitory receptor KIR2DL5B‐positive genotype was independently related to a delayed second deep molecular remission (HR 0.54, 95% CI [0.32‐0.91], P = 0.02) after TKI rechallenge but not to time to first deep molecular remission or treatment‐free remission rates. Conclusion: These results suggest that KIR2DL5B could carry a role in lymphocyte‐mediated control of leukemic residual disease control in patient with CML relapse

Table_1_ROHHAD syndrome without rapid-onset obesity: A diagnosis challenge.docx

BackgroundROHHAD syndrome (Rapid-onset Obesity with Hypothalamic dysfunction, Hypoventilation and Autonomic Dysregulation) is rare. Rapid-onset morbid obesity is usually the first recognizable sign of this syndrome, however a subset of patients develop ROHHAD syndrome without obesity. The prevalence of this entity is currently unknown. Alteration of respiratory control as well as dysautonomic disorders often have a fatal outcome, thus early recognition of this syndrome is essential.Material and methodsA retrospective, observational, multicenter study including all cases of ROHHAD without rapid-onset obesity diagnosed in France from 2000 to 2020.ResultsFour patients were identified. Median age at diagnosis was 8 years 10 months. Median body mass index was 17.4 kg/m2. Signs of autonomic dysfunction presented first, followed by hypothalamic disorders. All four patients had sleep apnea syndrome. Hypoventilation led to the diagnosis. Three of the four children received ventilatory support, all four received hormone replacement therapy, and two received psychotropic treatment. One child in our cohort died at 2 years 10 months old. For the three surviving patients, median duration of follow-up was 7.4 years.ConclusionROHHAD syndrome without rapid-onset obesity is a particular entity, appearing later than ROHHAD with obesity. This entity should be considered in the presence of dysautonomia disorders without brain damage. Likewise, the occurrence of a hypothalamic syndrome with no identified etiology requires a sleep study to search for apnea and hypoventilation. The identification of ROHHAD syndrome without rapid-onset obesity is a clinical challenge, with major implications for patient prognosis.</p

Observations of a large Dent disease cohort.

Dent disease classically combines low-molecular-weight proteinuria, hypercalciuria with nephrocalcinosis, and renal failure. Nephrotic range proteinuria, normal calciuria, and hypokalemia have been rarely reported. It is unknown whether the changes in phenotype observed over time are explained by a decrease in glomerular filtration rate (GFR) or whether there is any phenotype-genotype relationship. To answer this we retrospectively analyzed data from 109 male patients with CLCN5 mutations (Dent-1) and 9 patients with mutation of the OCRL gene (Dent-2). In Dent-1 disease, the estimated GFR decreased with age, by 1.0 to 1.6 ml/min per 1.73 m(2)/yr in the absence and presence of nephrocalcinosis, respectively, with no significant difference. Median values of low-molecular-weight proteinuria were in the nephrotic range and remained at the same level even in late renal disease. End-stage renal disease occurred in 12 patients, at a median age of 40 years. Hypercalciuria decreased with glomerular filtration and was absent in 40% of the patients under 30 and 85% of those over the age of 30. Hypophosphatemia did not resolve with age and calcitriol concentrations were in the upper normal range. Kalemia decreased with age, with half of the patients over the age of 18 presenting with hypokalemia. Thus, no phenotype/genotype correlation was observed in this cohort of patients with Dent disease