567 research outputs found
New dysplasia or achondrogenesis type 1 B? The importance of histology and molecular biology in delineating skeletal dysplasias.
No full textThree novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss
No full textCraniometaphyseal dysplasia (CMD) is a rare, sclerosing skeletal disorder caused by mutations in ANKH, which encodes a putative pyrophosphate transporting membrane protein. Six distinct ANKH mutations have been described to date. We report here on three novel mutations in simplex patients with CMD. The c.1015T>C (p.Cys339Arg) mutation found in Patient A was associated with congenital facial palsy, early-onset conductive hearing loss, and a generalized undermodeling of the long bones. The c.1172T>C (p.Leu391Pro) mutation in Patient B was associated with facial palsy, progressive conductive hearing loss, and generalized undermodeling of tubular bones. A milder phenotype without cranial nerve affection was observed in Patient C, associated with a c.1001T>G (p.Leu334Arg) mutation. All affected residues lie in evolutionarily conserved sequence blocks. These additional cases and the associated mutations contribute to an improved appreciation of the variability of this rare skeletal dysplasia. (c) 2010 Wiley-Liss, Inc
A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases.
No full textOwing to the remarkable clinical variability of CDG, this novel disease probably remains largely underdiagnosed. The successful treatment of CDG Ib patients with oral mannose emphasises the paramount importance of early diagnosis of PMI deficiency
Comment on “Repulsion between calcite crystals and grain detachment during water-rock interaction” by Levenson and Emmanuel, 2017
No full textInternational audienceforces between calcite surfaces and their effect on the brittle strength of calcite-bearing rocks. Geophysical Research Letters 42, 4786-479
Bubbles slipping along a crenelated wall
No full textWe describe the ascent dynamics of air bubbles squeezed against a rigid crenelated plate immersed in a liquid bath. Depending on its shape and the inclination angle, the bubbles can remain trapped in the crenelations, or slip against the wall. In particular, the yield force separating the two regimes increases with the height of the crenels. In the second regime, the slipping motion is characterized by a capillary number which barely depends on the crenel geometry (wavelength and amplitude), at large enough angles. We finally discuss the regime of intermediate angles, and interpret the measured oscillations in bubble velocities through the existence of a (spatially) periodic force. These results provide information at the bubble scale for processes at play in the slip of foams and emulsions against rough walls
Embryonic expression of the human MID1 gene and its mutations in Opitz syndrome
No full textOpitz syndrome (G/BBB syndrome, MIM145410, and MIM300000) is a midline congenital malformation characterised by hypertelorism, hypospadias and oesophagolaryngotracheal defects leading to swallowing difficulties and hoarse voice. This condition is genetically heterogeneous with an X-linked recessive form mapped to Xp22.3 and at least one autosomal dominant form mapped to chromosome 22q11.2. Recently, mutations in MID1 have been identified in the X-linked form of the disease but the gene for the autosomal dominant form on 22q11 remains unknown.
Here we report on MID1 mutations screening in a series of 14 patients with Opitz syndrome and the MID1 expression pattern in human embryos using hybridisation in situ. Finally, we investigated the contribution of chromosome X-inactivation studies to identify the X-linked form of the disease.
Six MID1 mutations were identified in our series. All mutations were novel except the R495X mutation previously reported in three unrelated patients. We report heart and hindbrain expression of MID1 during early human development. Obligate carrier mothers showed a random pattern of X-inactivation.
Vermis hypoplasia or agenesis was frequently present (4/9) in patients with MID1 mutation. The heart and hindbrain expression of MID1 during early human development further supports the view that heart defects and vermis hypoplasia or agenesis are features to be included in the malformative spectrum of the syndrome. Finally, the study of X-inactivation pattern in women does not help discrimination between X-linked and autosomal forms of the disease
Scalp defect, absence of nipples, ear anomalies, renal hypoplasia: another case of Finlay-Marks syndrome
No full textPachydysostosis of the fibula
No full text We report four patients with unilateral bowing of the lower leg, affecting only the fibula. The bone is too long with anterolateral curvature of the distal third. Because of its regressive course and the absence of cutaneous involvement, this newly described entity can be distinguished from other forms of bowing of the leg. </jats:p
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