Publications by authors named "Tauber M"

Background: Patients with pituitary stalk interruption syndrome (PSIS) are initially referred for hypoglycemia during the neonatal period or growth retardation during childhood. PSIS is either isolated (nonsyndromic) or associated with extra-pituitary malformations (syndromic).

Objective: To compare baseline characteristics and long-term evolution in patients with PSIS according to the initial presentation.

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Objective: To evaluate the impact of interactive Nutri-Advice kiosks on children's nutritional skills and their ability to apply it to food choices in a middle school cafeteria menu (food choice competencies).

Design: Quasi-experimental design; pre/post-test.

Setting: Freestanding interactive computer terminals (kiosks) were installed in three middle schools in Toulouse, France.

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Prader-Willi syndrome is a neurodevelopmental disorder caused by the lack of expression of imprinted genes of the chromosomal region 15q11-q12. Diagnosis can now be made in the first months of life, allowing a precise description of the natural history of the disease. Of interest, nutritional phases appear to be more complex than those initially reported, starting with a severe hypotonia with deficit of suckling and failure to thrive in neonates, and subsequently switching to excessive weight gain with morbid obesity due to hyperphagia and deficit of satiety.

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Background: The purpose of this study was to analyze the pathomorphology of proximal humeral fractures to determine relevant and reliable parameters for fracture classification.

Methods: A total of 100 consecutive acute proximal humeral fractures in adult patients were analyzed by 2 non-independent observers from a single shoulder department using a standardized protocol based on biplane radiographs and 3-dimensional computed tomography scans. A fracture classification system based on the most reliable key features of the pathomorphologic analysis was created, and its reliability was tested by 6 independent shoulder experts analyzing another 100 consecutive proximal humeral fractures.

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Article Synopsis
  • The study investigates how well high-Tg polynorbornene micelles can encapsulate a hydrophobic dye, BODIPY, by analyzing changes in absorption spectra.
  • It was found that these micelles can load one BODIPY dye per ten polymers, and increasing the size of the hydrophilic block in the polymers allows for more dye to be incorporated.
  • The research also highlights a notable 740 μs triplet lifetime for the encapsulated BODIPY, which is the longest measured at room temperature and is linked to reduced triplet-triplet interactions in the micelle's dense environment.
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The characterization of triplet excited states is essential for research on organic photovoltaics and singlet fission. We report resonance Raman spectra of two triplet oligothiophenes with n-alkyl substituents, a tetramer and hexamer. The spectra of the triplets are more complex than the ground state, and we find that density functional theory calculations are a useful starting point for characterizing the bands.

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Introduction: The Humerusblock (HB) represents a minimally invasive implant allowing for the stabilisation of proximal humeral fractures after closed or percutaneous reduction. The aim of the study was to perform a general clinical and radiological midterm follow-up focusing on the quality and complications in a large series of patients of younger age (<70 years).

Patients And Methods: A total of 126 patients with an average age of 53.

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Prader-Willi syndrome (PWS) is characterized by a switch from failure to thrive to excessive weight gain and hyperphagia in early childhood. Hyperghrelinemia may be involved in the underlying mechanisms of the switch. The purpose of this study is to evaluate acylated ghrelin (AG) and unacylated ghrelin (UAG) levels in PWS and investigate their associations with hyperphagia.

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Introduction: Magnetic resonance (MR) imaging is a sensitive modality for demonstrating in vivo alterations in brain structure and function after acute organophosphate (OP) poisoning. The goals of this study were to explore early imaging findings in organophosphate-poisoned animals, to assess the efficacy of centrally acting antidotes and to find whether early MR findings can predict post-poisoning cognitive dysfunction.

Methods: Sprague-Dawley rats were poisoned with the agricultural OP paraoxon and were treated with immediate atropine and obidoxime (ATOX) to reduce acute mortality caused by peripheral inhibition of acetylcholinesterase.

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Ubiquitin-like with PHD and RING Finger domains 1 (UHRF1) is an important nuclear protein that is mutated and aberrantly expressed in many tumors. The protein integrates different chromatin modifications and is essential for their maintenance throughout the cell cycle. Separate chromatin-binding modules of UHRF1 have been studied on a functional and structural level.

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Background: This study evaluated the functional and radiologic results of shoulder arthroplasty using a single type of stemless humeral head implant with a minimum follow-up of 5 years.

Methods: Stemless shoulder arthroplasties in 78 patients at a mean age of 58 years were prospectively evaluated at a mean clinical and radiologic follow-up of 72 months. Functional results were documented using the age- and sex-adjusted Constant score with standardized radiographic examination.

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Phosphoinositides (PI) are important signaling molecules in the nucleus that influence gene expression. However, if and how nuclear PI directly affects the transcriptional machinery is not known. We report that the lipid kinase PIP4K2B regulates nuclear PI5P and the expression of myogenic genes during myoblast differentiation.

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Purpose: To determine whether anterior shoulder instability is associated with an inherent deficiency of the bony glenoid concavity, which results in a reduced bony shoulder stability ratio (BSSR).

Methods: In this case-control study, we searched the institutional database for patients treated for unilateral recurrent anterior shoulder instability. We included 30 consecutive patients with atraumatic instability, 30 consecutive patients with traumatic instability, and 36 matched healthy controls, for a total of 96 shoulders.

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MicroRNA haploinsufficiency has been associated with developmental defects in only a limited number of cases. Here we report a de novo genomic microdeletion that includes the LINGO2 gene as well as two microRNA genes, MIR873 and MIR876, in a patient with craniofacial abnormalities - in particular macrocephaly and hypertelorism - and learning difficulties. Subsequent analysis revealed that the microRNAs affected by this de novo microdeletion form a mammalian-lineage, neuronal tissue-enriched cluster.

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Marfan syndrome (MFS) is a rare connective tissue disorder caused by mutation in the gene encoding the extracellular matrix protein fibrillin-1 (FBN1), leading to transforming growth factor-beta (TGF-β) signaling dysregulation. Although decreased axial and peripheral bone mineral density (BMD) has been reported in adults with MFS, data about the evolution of bone mass during childhood and adolescence are limited. The aim of the present study was to evaluate bone and muscle characteristics in children, adolescents, and young adults with MFS.

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Background: Reverse Hill-Sachs (RHS) lesions can cause recurrent posterior shoulder instability because of engagement with the posterior glenoid rim; however, the effect of defect size and localization have yet to be determined.

Hypothesis: Both size and localization are critical for the engagement of an RHS defect with the posterior glenoid rim.

Study Design: Controlled laboratory study.

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Tryptophan and tyrosine can form radical intermediates that enable long-range, multistep electron transfer (ET) reactions in proteins. This report describes the mechanisms of formation and quenching of a neutral tryptophan radical in azurin, a blue-copper protein that contains native tyrosine (Y108 and Y72) and tryptophan (W48) residues. A long-lived neutral tryptophan radical W48• is formed upon UV-photoexcitation of a zinc(II)-substituted azurin mutant in the presence of an external electron acceptor.

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Background: Concurrent ipsilateral fractures of the proximal and shaft of the femur are rare complex fracture combinations. In this prospective cohort study, we evaluated clinical and radiological long-term results after operative treatment using several surgical strategies: the so-called "rendezvous" surgical technique, e.g.

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Background: Mutations of MAGEL2 have been reported in patients presenting with autism, and loss of MAGEL2 is also associated with Prader-Willi syndrome, a neurodevelopmental genetic disorder. This study aimed to determine the behavioral phenotype of Magel2-deficient adult mice, to characterize the central oxytocin (OT) system of these mutant mice, and to test the curative effect of a peripheral OT treatment just after birth.

Methods: We assessed the social and cognitive behavior of Magel2-deficient mice, analyzed the OT system of mutant mice treated or not by a postnatal administration of OT, and determined the effect of this treatment on the brain.

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Objectives: There is a paucity of data available on small intestinal bacterial overgrowth (SIBO) in systemic sclerosis (SSc). The objectives of the study were to estimate the prevalence of SIBO in SSc patients exhibiting intestinal symptoms and identify patients at risk of SIBO regarding clinical and biological presentations and gastrointestinal symptoms captured by standardized questionnaires.

Methods: Between 2011 and 2012, patients exhibiting intestinal complaints underwent glucose H2/CH4 breath tests (BT) and blood assays.

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Article Synopsis
  • - LEOPARD syndrome, also known as Noonan syndrome with multiple lentigines, is a rare genetic disorder characterized by various developmental issues including heart defects, distinct physical features, short stature, and growth retardation, primarily due to PTPN11 gene mutations.
  • - In a study using a mouse model with a common LS mutation, researchers found that these mice had significantly less body fat and were resistant to obesity, suggesting that the mutation impacts fat storage and energy expenditure.
  • - Preliminary findings from human patients indicate that many affected individuals also have lower body mass index (BMI) and reduced fat, revealing potential metabolic benefits from the disorder while possibly complicating certain aspects of health related to LS.
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Clonidine poisoning's clinical feature is well documented in the medical literature, but the minimal toxic dose has not yet been established. The effectiveness of naloxone is also controversial. The authors describe a clonidine overdose in a 9-year-old boy (25 kg) during a growth hormone test: he received tenfold the prescribed clonidine dose (0.

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Tears of the anterior cruciate ligament (ACL) are very frequent injuries, particularly in young and active people. Arthroscopic reconstruction using tendon auto- or allograft represents the gold-standard for the management of ACL tears. Interestingly, the ACL has the potential to heal upon intensive non-surgical rehabilitation procedures.

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