Aglossia-adactylia sequence and Moebius syndrome involvement.

Adactylia and limb deficiencies are major congenital malformations can be resulted from a long list of etiological factors, in our department the vast majority of these disorders are genetically determined, and only a small fraction of it proved to be sporadic. We report on a-9-months old male child with Aglossia- Adactylia sequence associated with Moebius syndrome involvement, which in our patient is manifesting itself by left facial nerve and bilateral abducens nerve palsies, total absent of the tongue and absent digits of hands and feet respectively.Key words: Aglossia-adactylia sequence, Moebius syndrome, Hanhart syndrome, facial nerve palsy, and abducens nerve pals

Microbiome composition is shaped by geography and population structure in the parasitic wasp Asobara japonica, but not in the presence of the endosymbiont Wolbachia

The microbial community composition is crucial for diverse life-history traits in many organisms. However, we still lack a sufficient understanding of how the host microbiome is acquired and maintained, a pressing issue in times of global environmental change. Here we investigated to what extent host genotype, environmental conditions, and the endosymbiont Wolbachia influence the bacterial communities in the parasitic wasp Asobara japonica. We sampled multiple wasp populations across 10 locations in their natural distribution range in Japan and sequenced the host genome (whole genome sequencing) and microbiome (16S rRNA gene). We compared the host population structure and bacterial community composition of wasps that reproduce sexually and are uninfected with Wolbachia with wasps that reproduce asexually and carry Wolbachia. The bacterial communities in asexual wasps were highly similar due to a strong effect of Wolbachia rather than host genomic structure. In contrast, in sexual wasps, bacterial communities appear primarily shaped by a combination of population structure and environmental conditions. Our research highlights that multiple factors shape the bacterial communities of an organism and that the presence of a single endosymbiont can strongly alter their compositions. This information is crucial to understanding how organisms and their associated microbiome will react in the face of environmental change

Congenital Dysplastic Hips, Spinal Column Abnormalities, Fractures and Progressive Neurological Manifestations in Tunisian Family with Cockayne Syndrome

We report an inbred, Tunisian family in which cousins have the definite diagnosis of Cockayne syndrome. Intervening members in this family, who are intellectually normal, though, most are manifesting complications of hip dysplasia (development of dysplastic arthrosis) and various vertebral abnormalities. We presume that these are carriers who manifest dreadful bone features rather than the clinical phenotype of Cockayne syndrome, the mode of inheritance of the abnormal gene in this family is suggesting autosomal dominant, to our knowledge the family reported with such skeletal abnormalities in association to Cockayne syndrome is the largest in comparison to the international literatures. A correction to this article has been issued in Annals of African Medicine, Vol. 4, No. 3, 2005, pp. 141. Please see the full text HTML document for further details.Nous faisons un rapport sur un cas r\ue9sultant de croisements entre animaux de m\ueame souche, une famille tunisiene chez laquelle les cousins avaient un diagnostic pr\ue9cis du syndrome de cockaye. Les membres de cette famille qui interviennent et qui sont sains intellectuellement bien que la plupart des patients manifestaient des complications de la hanche dysplasie (dev\ue9loppement d'arthrose dysplastique) et des anomalies vert\ue9brales. Nous supposons qu'elles sont des porteuses qui manifestent des traits \ue9pouvantables d'os plut\uf4t que le ph\ue9notype clinique de syndrone de cockaye, la m\ue9thode d'h\ue9ritage de ce g\ueane anomalie chez cette famille pourrait \ueatre autosome dominant. Pour autant que nous sachons, la famille s'est pr\ue9sent\ue9e atteinte d'une telle anomalit\ue9 squelettique en association avec le syndrome de cockaye est le plus grand par rapport \ue0 la litt\ue9rature international

Progressive non-infectious anterior vertebral fusion, split cord malformation and situs inversus visceralis

BACKGROUND: Progressive non-infectious anterior vertebral fusion is a unique spinal disorder with distinctive radiological features. Early radiographic findings consist of narrowing of the anterior aspect of the intervertebral disk with adjacent end plate erosions. There is a specific pattern of progression. The management needs a multi-disciplinary approach with major input from the orthopaedic surgeon. CASE REPORT: We report a 12-year-old-female with progressive anterior vertebral fusion. This occurred at three vertebral levels. In the cervical spine there was progressive fusion of the lateral masses of the Axis with C3. Secondly, at the cervico-thoracic level, a severe, progressive, anterior thoracic vertebral fusion (C7-T5) and (T6-T7) resulted in the development of a thick anterior bony ridge and massive sclerosis and thirdly; progressive anterior fusion at L5-S1. Whereas at the level of the upper lumbar spines (L1) a split cord malformation was encountered. Situs inversus visceralis was an additional malformation. The role of the CT scan in detecting the details of the vertebral malformations was important. To our knowledge, neither this malformation complex and nor the role of the CT scan in evaluating these patients, have previously been described. CONCLUSION: The constellations of the skeletal abnormalities in our patient do not resemble any previously reported conditions with progressive anterior vertebral fusion. We also emphasise the important role of computerized tomography in the investigation of these patients in order to improve our understanding of the underlying pathology, and to comprehend the various stages of the progressive fusion process. 3D-CT scan was performed to improve assessment of the spinal changes and to further evaluate the catastrophic complications if fracture of the ankylosed vertebrae does occur. We believe that prompt management cannot be accomplished, unless the nature of these bony malformations is clarified

Towards an Automatic Co-generator for Manycores' Architecture and Runtime: STHORM case-study

Conference of 15th Annual International Conference on Computational Science, ICCS 2015 ; Conference Date: 1 June 2015 Through 3 June 2015; Conference Code:112773International audienc

L'os sous-fibulaire symptomatique chez l'enfant

4 observations d'os fibulaire symptomatique chez des enfants sportifs, victimes d'entorses à répétition ou de douleurs de la pointe de la malléole externe. Exploration par IRM, immobilisation plâtrée suivie d'une rééducation proprioceptive

Congenital dysplastic hips, spinal column abnormalities, fractures and progressive neurological manifestations in Tunisian family with Cockayne syndrome

We report an inbred, Tunisian family in which cousins have the definite diagnosis of Cockayne syndrome. Intervening members in this family, who are intellectually normal, though, most are manifesting complications of hip dysplasia (development of dysplastic arthrosis) and various vertebral abnormalities. We presume that these are carriers who manifest dreadful bone features rather than the clinical phenotype of Cockayne syndrome, the mode of inheritance of the abnormal gene in this family is suggesting autosomal dominant, to our knowledge the family reported with such skeletal abnormalities in association to Cockayne syndrome is the largest in comparison to the international literatures. A correction to this article has been issued in Annals of African Medicine, Vol. 4, No. 3, 2005, pp. 141. Please see the full text HTML document for further details

L'os sous-fibulaire symptomatique chez l'enfant

4 observations d'os fibulaire symptomatique chez des enfants sportifs, victimes d'entorses à répétition ou de douleurs de la pointe de la malléole externe. Exploration par IRM, immobilisation plâtrée suivie d'une rééducation proprioceptive

Subtotal amelia in a child with autosomal recessive hypohidrotic ectodermal dysplasia

We report an inbred Tunisian family, in which the proband manifested signs of hypohidrotic ectodermal dysplasia, subtotal amelia, scoliosis and left renal agenesis. Two other family members had the full clinical criteria of hypohidrotic ectodermal dysplasia, characterized by deficient sweat glands, hypodontia, hypoplasia of the mucous glands, and fine hair. Nine family subjects had variable clinical expression of the disorder. Keywords: Hypohidrotic ectodermal dysplasia (H E D), subtotal amelia, dysplastic ears African Health Sciences Vol. 5 (3) 2005: pp. 270-27

Glycogen storage disease type I in Tunisia: An epidemiological analysis

International audienceObjective: Analysis of epidemiological data concerning GSD I in Tunisia. Subjects and methods: All the cases diagnosed as GSD I between 1992 and 2005 in a paediatric department recruiting all the metabolic diseases referred from the North of Tunisia were reviewed. Individual data (sex, socioeconomic and educational background, geographic origins, insurance coverage) were collected and pedigrees were reconstituted. Results: Twenty-two cases (9 boys and 13 girls from 20 homes) were identified. Fourteen belonged to 11 families originating from the North of Tunisia; ten of them are still alive. Both parents in 4 homes (21%) and one parent in 9 homes (47%) were illiterate. Most of the homes (60%) had a low income and 45% comprised at least 3 children. Only 7 homes (35%) had health insurance. Pedigrees indicated 44 infant deaths and at least 10 other cases fulfilling the clinical features of GSD I but not diagnosed. Conclusion: The paediatric prevalence of GSD I in the North of Tunisia can be estimated to 7.93 cases per one million inhabitants and its incidence to 1/100 000 births. However, it is likely to be more frequent because of underreporting or underdiagnosis leading to precocious deaths