334 research outputs found
Síndrome de Labrune – gene SNORD118 : relato de caso
No full textA Síndrome de Labrune é uma desordem rara, que tem como característica o desenvolvimento de uma microangiopatia nos vasos cerebrais que leva à seguinte tríade de alterações radiológicas no parênquima cerebral: leucoencefalopatia com presença de calcificações cerebrais e cistos (LABRUNE P, et al. 1996). Recentemente, foi descoberto o gene responsável pela microangiopatia, gene SNORD118 (JENKINSON EM, et al. 2016) porém o mecanismo envolvido na fisiopatologia ainda é incerto. Clinicamente a síndrome pode apresentar convulsões, sintomas piramidais, extrapiramidais e cerebelares, que variam de acordo com a localização das lesões (LABRUNE P, et al. 1996). O presente estudo pretende realizar um relato sobre um caso diagnosticado ainda na infância e discorrer sobre as manifestações observadas durante o acompanhamento do paciente.Labrune Syndrome is a rare disorder, characterized by the development of a microangiopathy in the cerebral vessels that leads to the following triad of radiological changes in the brain parenchyma: leukoencephalopathy with the presence of cysts and calcifications (LABRUNE P, et al. 1996). Recently, the gene responsible for the microangiopatic alterations was discovered, the SNORD118 gene (JENKINSON EM, et al. 2016), but the mechanism involved in the pathophysiology is still uncertain. Clinically, the syndrome may present seizures, pyramidal, extrapyramidal and cerebellar symptoms, which may vary according to the location of the lesions (LABRUNE P, et al. 1996). The present study intends to report on a case diagnosed in the childhood period and expatiate on the manifestations observed during the patient's follow-up
Céline Labrune-Badiane (2022) - Le pari de l’école : une histoire de l’institution scolaire en Casamance 1860-1960
No full textCritical review: Céline Labrune-Badiane, Le pari de l’école : une histoire de l’institution scolaire en Casamance 1860-1960, Paris, Hémisphères Éditions, 2022, 374 p.Recensé : Céline Labrune-Badiane, Le pari de l’école : une histoire de l’institution scolaire en Casamance 1860-1960, Paris, Hémisphères Éditions, 2022, 374 p
Correction to Short and long-term acceptability and efficacy of extended-release cornstarch in the hepatic glycogen storage diseases: results from the Glyde study
No full textFollowing publication of the original article [1], we have been notified that there was a mistake in the published articles and authors’ first and last names were published incorrectly. They are now as follows: Weinstein DA1,2*, Jackson RJ3, Brennan EA4, Williams M1, Davison JE5, de Boer F6, Derks TGJ6, Ellerton C7,Faragher B8, Gribben J9, Labrune P10, McKittrick KM4, Murphy E7, Ross KM1, Steuerwald U11, Voillot C10,Woodward AJM9 and Mundy HR9 They should be as follows: DA Weinstein 1,2*, RJ Jackson 3, EA Brennan 4, M Williams1, JE Davison5, F de Boer 6, TGJ Derks 6, C Ellerton7,B Faragher 8, J Gribben 9, P Labrune 10, KM McKittrick 4, E Murphy 7, KM Ross 1, U Steuerwald 11, C Voillot 10,AJM Woodward 9 and HR Mundy 9 The original article was updated.</p
Whole-Body Muscle Magnetic Resonance Imaging in Glycogen-Storage Disease Type III
No full textIntroduction: The main objective of this study was to describe muscle involvement on whole-body magnetic resonance imaging scans in adults at different stages of glycogen-storage disease type III (GSDIII). Methods: Fifteen patients, 16–59 years of age, were examined on a 3-T system. The examinations consisted of coronal and axial T1-weighted images or fat images with a Dixon technique, and were scored for 47 muscles using Mercuri's classification. Muscle changes consisted of internal bright signals of fatty replacement. Results: Distribution across muscles showed predominant signal alteration in the lower limbs and postural muscles. This finding is consistent with the overall clinical presentation of GSDIII and the results of heatmap scores. Review of the MRI scans provided new information regarding recurrent muscle changes, particularly in the soleus, gastrocnemius medial head, and thoracic extensor muscles. Discussion: Whole-body muscle imaging provides clinically relevant information regarding muscle involvement in GSDIII. A severity score may contribute to improved patient management. Muscle Nerve, 2019
Granulocyte colony-stimulating factor in glycogen storage disease type 1b. Results of the European Study on Glycogen Storage Disease Type 1
No full textAbstract Patients with glycogen storage disease type 1b
(GSD-1b) have neutropenia and neutrophil dysfunction
that predispose to frequent infections and inflammatory
bowel disease (IBD), for which granulocyte colonystimulating
factor (GCSF) is given. To investigate the
use and the value of GCSF treatment in GSD-1b, a
retrospective registry of GSD-1 patients born between
1960 and 1995 in 12 European countries was established.
Included were 57 GSD-1b patients. Unglycosylated
GCSF was given to 18 patients, median age of starting
therapy was 8 years, longest duration of therapy 7 years.
Dose varied between 2–10 lg/kg, with a frequency from
daily to twice per week. Neutropenia (defined as an
absolute neutrophil count <0.5·109/l) was found in 49
patients. In untreated patients, a significant decrease
of haemoglobin, platelet counts and leucocyte counts
with increasing age (P<0.032, P<0.04 and P<0.001
respectively) was noted, whereas neutrophil counts
remained low but stable with increasing age. In nine
patients who were treated longer than 1 year, median
neutrophil counts increased significantly and simultaneously
median leucocyte counts and platelet counts
decreased significantly. In all patients treated, the
number and severity of infections decreased and the
severity of IBD improved subjectively. The most serious
complication of GCSF treatment was marked splenomegaly
(four patients). Conclusion: in this retrospective
study a significant haematological effect was documented
and a subjective improvement of infections and
inflammatory bowel disease. In view of the uncertainty,
prospective controlled trials seem warranted to clarify
the indication for the use of granulocyte colony-stimulating
factor in this diseas
Figure 2 from: Labrune C, Lavesque N, Bonifácio P, Hutchings P (2019) A new species of Pista Malmgren, 1866 (Polychaeta, Terebellidae) from the north-western Mediterranean Sea. ZooKeys 838: 71-83. https://doi.org/10.3897/zookeys.838.28634
No full textFigure 2 Pistacolini sp. n.: A Live specimen, dorsal view B Entire specimen, ventral view, methyl green staining C Anterior part, ventral view D Anterior part, dorsal view. B–D from holotype MNHN-IA-TYPE 1850. Key: LL: lateral lobes, bs: branchial stalks
Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on glycogen storage disease type I (ESGSDI)
No full textAbstract Glycogen storage disease type I (GSD I) is a
relatively rare metabolicdis ease and therefore, no metabolic
centre has experience of large numbers of patients.
To document outcome, to develop guidelines about (longterm)
management and follow-up, and to develop therapeuticstrategies,
the collaborative European Study on
GSD I (ESGSD I) was initiated. This paper is an descriptive
analysis of data obtained from the retrospective
part of the ESGSD I. Included were 231 GSD Ia and 57
GSD Ib patients. Median age of data collection was 10.4
years (range 0.4–45.4 years) for Ia and 7.1 years (0.4–30.6
years) for Ib patients. Data on dietary treatment, pharmacological
treatment, and outcome including mental
development, hyperlipidaemia and its complications,
hyperuricaemia and its complications, bleeding tendency,
anaemia, osteopenia, hepatomegaly, liver adenomas and
carcinomas, progressive renal disease, height and adult
height, pubertal development and bone maturation,
school type, employment, and pregnancies are presented.
Data on neutropenia, neutrophil dysfunction, infections,
inflammatory bowel disease, and the use of granulocyte
colony-stimulating factor are presented elsewhere (Visser
et al. 2000, J Pediatr 137:187–191; Visser et al. 2002, Eur J
Pediatr DOI 10.1007/s00431-002-1010-0). Conclusion:
there is still wide variation in methods of dietary and
pharmacological treatment of glycogen storage disease
type I. Intensive dietary treatment will improve, but not
correct completely, clinical and biochemical status and
fewer patients will die as a direct consequence of acute
metabolicderang ement. With ageing, more and more
complications will develop of which progressive renal
disease and the complications related to liver adenomas
are likely to be two major causes of morbidity and mortality
Correction of hyperbilirubinemia in Gunn rats by surgical delivery of low doses of HDAd vectors.
No full textHelper-dependent adenoviral (HDAd) vectors are attractive for liver-directed gene therapy because they can drive sustained high levels of transgene expression without chronic toxicity. However, high vector doses are required to achieve efficient hepatic transduction by systemic delivery because of a nonlinear dose response. Unfortunately, such high doses result in systemic vector dissemination and dose-dependent acute toxicity with potential lethal consequences. We have previously shown in nonhuman primates that delivery of HDAd in surgically isolated livers resulted in a significantly higher hepatic transduction with reduced systemic vector dissemination compared with intravenous delivery and multiyear transgene expression. Encouraged by these data, we have now employed a surgical vector delivery method in the Gunn rat, an animal model for Crigler-Najjar syndrome. After vector delivery into the surgically isolated liver, we show phenotypic correction at the low and clinically relevant vector dose of 1×1011 vp/kg. Correction of hyperbilirubinemia and increased glucuronidation of bilirubin in bile was achieved for up to 1 year after vector administration. Surgical delivery of the vector was well tolerated without signs of acute or chronic toxicity. This method of delivery could thereby be a safer alternative to liver transplantation for long-term treatment of Crigler-Najjar syndrome type I
MIDI, un gène important dans le développement de la ligne médiane : l'exemple du syndrome G d'Opitz
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