Warburg micro syndrome type 1 associated with peripheral neuropathy and cardiomyopathy

The Warburg micro syndrome (WARBM) is a genetically heterogeneous syndrome linked to at least 4 loci. At the clinical level, WARBM is characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, corpus callosum hypoplasia, severe mental retardation, and hypogonadism. In some families additional clinical features have been reported. The presence of uncommon clinical features (peripheral neuropathy, cardiomyopathy) may result in misdirected molecular diagnostics. Using the next generation sequencing approach (NGS), we were able to diagnose WARBM1 syndrome by detection of a new mutation within the RAB3GAP1 gene. We have detected some DNA variants which may be responsible for cardiomyopathy. We did not find any obvious pathogenic mutation within a set of genes known to be responsible for hereditary motor and sensory neuropathy (HMSN). We conclude that: (i) in clinically delineated syndromes, a classical single-gene oriented approach may be not conclusive especially in the presence of rare clinical features, (ii) peripheral neuropathy and cardiomyopathy are rare additional symptoms coexisting with WARBM1, (iii) a pleiotropic effect of a single point mutation is sufficient to be causative for WARBM1 and (iv) more WARBM-affected patients should be reported to delineate a complete phenotype

3D-визуализация в ультразвуковой дефектоскопии

На сегодняшний день существует множество средств визуализации ультразвуковых данных, но все они, как правило, интегрированы в дефектоскопы. Когда у нас возникает потребность извлечь данные сканирования, произвести собственную обработку, и представить в трехмерном изображении, то мы оказываемся лишенными возможности визуализации. Предложенное программное обеспечение на основе алгоритма SAFT позволяет произвести постобработку данных сканирования (А-сканов) и двумерную и трехмерную визуализацию

Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study

Distal hereditary motor neuropathy (HMN) is a clinically and genetically heterogeneous group of disorders affecting spinal α-motor neurons. Since 2001, mutations in six different genes have been identified for autosomal dominant distal HMN; glycyl-tRNA synthetase (GARS), dynactin 1 (DCTN1), small heat shock 27 kDa protein 1 (HSPB1), small heat shock 22 kDa protein 8 (HSPB8), Berardinelli-Seip congenital lipodystrophy (BSCL2) and senataxin (SETX). In addition a mutation in the (VAMP)-associated protein B and C (VAPB) was found in several Brazilian families with complex and atypical forms of autosomal dominantly inherited motor neuron disease. We have investigated the distribution of mutations in these seven genes in a cohort of 112 familial and isolated patients with a diagnosis of distal motor neuropathy and found nine different disease-causing mutations in HSPB8, HSPB1, BSCL2 and SETX in 17 patients of whom 10 have been previously reported. No mutations were found in GARS, DCTN1 and VAPB. The phenotypic features of patients with mutations in HSPB8, HSPB1, BSCL2 and SETX fit within the distal HMN classification, with only one exception; a C-terminal HSPB1-mutation was associated with upper motor neuron signs. Furthermore, we provide evidence for a genetic mosaicism in transmitting an HSPB1 mutation. This study, performed in a large cohort of familial and isolated distal HMN patients, clearly confirms the genetic and phenotypic heterogeneity of distal HMN and provides a basis for the development of algorithms for diagnostic mutation screening in this group of disorder

Bridgman-grown (Cd,Mn)Te and (Cd,Mn)(Te,Se): A comparison of suitability for X and gamma detectors

This study explores the suitability of semi-insulating compounds, specifically (Cd,Mn)Te and (Cd,Mn)(Te,Se), as materials for room temperature X-ray and gamma-ray detectors. These compounds were grown using the Bridgman method, known for its efficient growth rate. The investigation aims to compare their crystal structure, mechanical properties, optical characteristics, and radiation detection capabilities. The addition of selenium to (Cd,Mn)Te increased the compound's hardness. However, (Cd,Mn)(Te,Se) exhibited one order of magnitude higher etch pit density compared to (Cd,Mn)Te. Photoluminescence analysis at low temperatures revealed the presence of defect states in both materials, characterized by shallow and deep donor-acceptor pair transitions (DAP). Annealing in cadmium vapors effectively eliminated DAP luminescence in (Cd,Mn)Te but not in (Cd,Mn)(Te,Se). Spectroscopic performance assessments indicated that the (Cd,Mn)Te detector outperformed the (Cd,Mn)(Te,Se) detector in responding to a Co-57 source. The reduced performance in the latter case may be attributed to either the presence of a deep trap related to deep DAP luminescence, minimally affected by annealing, or the dominant presence of block-like structures in the samples, as indicated by X-ray diffraction measurements. The block-like structures in (Cd,Mn)(Te,Se) showed ten times larger misorientation angles compared to the (Cd,Mn)Te crystals. (Cd,Mn)Te crystal revealed excellent single crystal properties, demonstrated by narrower omega scan widths. The study also highlights the influence of grain boundaries and twins on crystal structure quality. In our opinion, Bridgman-grown (Cd,Mn)Te shows greater promise as a material for X-ray and gamma-ray detectors compared to (Cd,Mn)(Te,Se).Comment: 33 pages, 11 figure