Spondylometaphyseal Dysplasia, Sedaghatian Type

Last update 08 May 2025

Basic Info

Synonyms

Lethal Metaphyseal Dysplasia, METAPHYSEAL CHONDRODYSPLASIA, CONGENITAL LETHAL, Metaphyseal Chondrodysplasia, Congenital Lethal

+ [6]

Introduction

A rare neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly.

Clinical Trials associated with Spondylometaphyseal Dysplasia, Sedaghatian Type

EUCTR2006-006865-17-ES

/ Not yet recruitingPhase 2

Estudio multicéntrico, no aleatorizado, abierto, para valorar la eficacia y la seguridad de la combinación de micofenolato mofetilo (MMF), prednisona y eritropoyetina beta en pacientes con síndromes mielodisplásicos (SMDs) de riesgo bajo o intermedio-1

Start Date24 May 2007

Sponsor / Collaborator-

100 Clinical Results associated with Spondylometaphyseal Dysplasia, Sedaghatian Type

100 Translational Medicine associated with Spondylometaphyseal Dysplasia, Sedaghatian Type

0 Patents (Medical) associated with Spondylometaphyseal Dysplasia, Sedaghatian Type

191

Literatures (Medical) associated with Spondylometaphyseal Dysplasia, Sedaghatian Type

01 May 2025·eBioMedicine

A dietary pattern promoting gut sulfur metabolism is associated with increased mortality and altered circulating metabolites in low-income American adults

Article

Author: Deng, Kui ; Wang, Lei ; Shu, Xiao-Ou ; Shrubsole, Martha J ; Gupta, Deepak K ; Lipworth, Loren ; Yu, Danxia ; Zheng, Wei ; Nguyen, Sang Minh ; Cai, Qiuyin

BACKGROUNDExcessive hydrogen sulfide in the gut, generated by sulfur-metabolising bacteria from foods, has been linked to intestinal inflammation and human diseases. We aim to investigate the interplay between diet and sulphur-metabolising bacteria in relation to mortality and circulating metabolites in understudied populations.METHODSIn the Southern Community Cohort Study (SCCS), a prospective cohort of primarily low-income American adults, habitual diets were assessed using a food frequency questionnaire at baseline (2002-2009). A sulfur microbial diet score (SMDS) was developed among 514 Black/African American participants by linking habitual dietary intakes with the abundance of sulfur-metabolising bacteria profiled by faecal shotgun metagenomics. The SMDS was then constructed among all eligible SCCS participants (50,114 Black/African American and 23,923 non-Hispanic White adults), and its associations with mortality outcomes were examined by Cox proportional hazards model and Fine-Grey subdistribution hazard model. The association between SMDS and 1110 circulating metabolites was examined by linear regression among 1688 SCCS participants with untargeted metabolomic profiling of baseline plasma samples.FINDINGSOver an average 13.9-year follow-up, SMDS was associated with increased all-cause mortality (HR [95% CI] for the highest vs. lowest quartiles: 1.21 [1.15-1.27]) and cardiovascular disease (1.18 [1.08-1.29]), cancer (1.13 [1.02-1.25]), and gastrointestinal cancer-specific (1.22 [1.00-1.49]) mortality among Black/African American participants (all P-trend<0.05). The associations were largely consistent across participant subgroups. Similar results were observed among non-Hispanic White participants. The SMDS was associated with 112 circulating metabolites, which mediated 36.15% of the SMDS-mortality association (P = 0.002).INTERPRETATIONA dietary pattern promoting sulfur-metabolising gut bacteria may contribute to increased total and disease mortality in low-income American adults.FUNDINGThis study was funded by the National Institutes of Health, United States, to Vanderbilt University Medical Center, United States, and Anne Potter Wilson Chair endowment to Vanderbilt University, United States.

01 Apr 2025·Endoscopy

Stent misdeployment and factors associated with failure in endoscopic ultrasound-guided choledochoduodenostomy: analysis of the combined datasets from two randomized trials

Article

Author: Forbes, Nauzer ; Miller, Corey ; Martel, Myriam ; Gan, Seng Ian ; Ratanachu-Ek, Thawee ; Desilets, Etienne ; Teoh, Anthony Y. B. ; Kongkam, Pradermchai ; Larghi, Alberto ; Chan, Shannon M. ; Alrifae, Yousef ; Chen, Yen-I ; Kunda, Rastislav ; Arcidiacono, Paolo G. ; Donatelli, Gianfranco ; Van der Merwe, Schalk ; Saxena, Payal ; Sahai, Anand V. ; Kenshil, Sana ; Napoleon, Bertrand ; Sandha, Gurpal ; Mosko, Jeffrey D. ; Jacques, Jeremie ; Long, Clara ; Lam, Eric

Abstract Background Stent misdeployment (SMD) is a feared and poorly characterized technical challenge of endoscopic ultrasound (EUS)-guided choledochoduodenostomy (CDS) using lumen-apposing stents. We aimed to ascertain the rate of stent misdeployment in EUS-CDS for malignant distal biliary obstruction (MDBO) and describe its outcomes while identifying variables associated with its occurrence. Method This was a post hoc analysis of two randomized controlled trials comparing EUS-CDS vs. endoscopic retrograde cholangiopancreatography in MDBO. The primary end point was rate of SMD, classified as misdeployment of the distal flange (type I), proximal flange (type II), contralateral bile duct wall injury (type III), or double mucosal puncture (type IV). Multivariable analysis was performed to identify variables associated with SMD and/or technical failure, and with clinical failure or stent dysfunction. Results 152 patients were included. Technical success was 93.4 %. SMD occurred in 11 patients (7.2 %; 95 %CI 3.1 %–11.4 %): 8 type I, 1 type II, and 2 type III. Endoscopic salvage of SMD was successful in 81.8 %. Misdeployment led to adverse events in four patients (two mild, two moderate), giving an overall SMD-related adverse event rate of 2.6 % (95 %CI 0.7 %–6.6 %). On multivariable analysis, extrahepatic bile duct diameter of ≤ 15 mm was associated with increased odds of SMD and/or technical failure. Conclusion SMD was relatively common in EUS-CDS and was associated with an extrahepatic bile duct diameter of ≤ 15 mm. The majority of misdeployments could be rescued endoscopically with low risk for adverse events.

01 Mar 2025·L'Encéphale

Clinical profiles, treatment adherence, and quality of life in patients with severe mental disorders treated with cyamemazine: A real-world observational study

Article

Author: Faugère, Mélanie ; Korchia, Théo ; Cermolacce, Michel ; Lefrere, Antoine ; Maakaron, Eloïse ; Lançon, Christophe ; Andrieu-Haller, Christelle ; Achour, Vincent ; Obadia, Jade ; Fond, Guillaume ; Verney, Pierre

BACKGROUNDCyamemazine, a phenothiazine antipsychotic with anxiolytic and sedative properties, is commonly used in the management of severe mental disorders (SMDs) such as schizophrenia, bipolar disorder, and major depressive disorder. Despite its unique pharmacological profile, the impact of cyamemazine on clinical outcomes, treatment adherence, and quality of life (QoL) remains inadequately studied. This study addresses the significant gap in understanding the clinical impact of cyamemazine, a widely used yet under-researched antipsychotic.METHODSThis observational study was conducted at a university psychiatry unit in Marseille, France, involving patients with SMDs. Sociodemographic, clinical, and comorbid characteristics were assessed, along with treatment adherence, QoL, and side effects using validated instruments including the Medication Adherence Rating Scale (MARS) and the Schizophrenia Quality of Life Scale (SQoL-18). Multivariate analyses were performed to explore the associations between cyamemazine use and clinical outcomes.RESULTSA total of 1,248 patients were included with 55 (4.4%) using cyamemazine. Cyamemazine users presented more severe clinical profiles, with higher anxiety, more hospitalizations, and poorer functioning. Although cyamemazine's anxiolytic effects may improve adherence, its sedative and metabolic side effects were associated with reduced QoL and functional impairment.CONCLUSIONSThe study highlights the need for personalized treatment strategies that weigh the benefits of cyamemazine against its potential risks. Integrating pharmacological and non-pharmacological interventions could enhance patient outcomes.

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Spondylometaphyseal Dysplasia, Sedaghatian Type

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