Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.

Using a combination of exome sequencing and linkage analysis, we investigated an English family with two affected siblings in their 40s with recessive Charcot-Marie Tooth disease type 2 (CMT2). Compound heterozygous mutations in the immunoglobulin-helicase-μ-binding protein 2 (IGHMBP2) gene were identified. Further sequencing revealed a total of 11 CMT2 families with recessively inherited IGHMBP2 gene mutations. IGHMBP2 mutations usually lead to spinal muscular atrophy with respiratory distress type 1 (SMARD1), where most infants die before 1 year of age. The individuals with CMT2 described here, have slowly progressive weakness, wasting and sensory loss, with an axonal neuropathy typical of CMT2, but no significant respiratory compromise. Segregating IGHMBP2 mutations in CMT2 were mainly loss-of-function nonsense in the 5' region of the gene in combination with a truncating frameshift, missense, or homozygous frameshift mutations in the last exon. Mutations in CMT2 were predicted to be less aggressive as compared to those in SMARD1, and fibroblast and lymphoblast studies indicate that the IGHMBP2 protein levels are significantly higher in CMT2 than SMARD1, but lower than controls, suggesting that the clinical phenotype differences are related to the IGHMBP2 protein levels

The Influence of the Chemical Compounds οn the Zinc Oxide Nanostructures Growth in Chemical Bath Deposition

In this paper, the results of the investigation the growth of the zinc oxide nanocrystals during chemical bath deposition will be presented. The influence of the chemical compounds on the shape and the composition of the nanostructures were researched. Chemical compounds like hexamethylenetetramine, zinc nitrate hexahydrate, urea and ascorbic acid were used in experiments

Influence of volatile organic compounds on the stability of resistive gas sensors

W artykule przedstawiono wyniki badań stabilności długookresowej czujników grubowarstwowych. Stabilność badano w atmosferze lotnych związków organicznych (LZO). Na podstawie uzyskanych wyników można stwierdzić, że stabilność czujników w bardzo dużym stopniu zależy do masy cząsteczkowej LZO. Przeprowadzono próby regeneracji czujników zatrutych LZO. Wyniki badań pokazały, że regeneracja jest możliwa.In this paper there are presented the results of stability tests and the possibility of regeneration (after poisoning by volatile organic compounds – VOC) of thick-film gas sensors. The sensors were exposed to the atmosphere with a high concentration (1000 ppm) of VOC with a chain length of C6 to C12. The temperature stimulated conductance was measured. During the experiments the temperature was changed cyclically with rate 2 deg/sec. During the first increase in temperature the characteristic inflection in the dependence of conductance was observed due to the desorption of various components adsorbed on the surface of a gas sensitive material (Fig. 2). The results of experiments showed the high sensitivity of sensors in the atmosphere with VOC which was strongly dependent on the temperature (Fig. 3). However, the inactivation occurred rapidly in the presence of VOC with high molecular weight (Fig. 5a). The initial conductance gradually increased. Tests were also carried out to evaluate the possibility of temperature regeneration of sensors exposed to the atmosphere with a high concentration (1000 ppm) of VOC. For this reason after the exposition, the sensors were heated in the ambient atmosphere with cyclically changes of the temperature. The studies showed that after the first heating in the range from 150°C to 650°C the sensor parameters were close to the initial values (Fig. 5). Thus, sensors poisoned by VOC can be temperature regenerated in the atmospheric air

Osadzanie tlenku cynku na materiałach stosowanych w medycynie. Badania wstępne

This paper presents preliminary results of the direct deposition of nano- and microstructures of zinc oxide on materials used in medicine. The coatings were deposited on cotton gauze and polyamide fabric. During the research the biological activity of these materials was defined. Performed were also tests of doping the ZnO structures with silver obtained. The research has proved that there is a growth of zinc oxide structures both on the gauze and polyamide fabric. The nanostructures deposited on it did not become detached from the surface, even though the material was subjected to ultrasonic rinsing. In addition, good biocidal properties of both of the textile materials modified were found. Furthermore a complex surface analysis of catheters: vascular and urological was made. ZnO was deposited on catheters, but they were characterised by low adhesion.W artykule przedstawiono wstępne wyniki badań bezpośredniego osadzania nano- i mikrostruktur tlenku cynku na materiałach stosowanych w medycynie. Warstwy osadzono na gazie opatrunkowej, tkaninie poliamidowej oraz cewnikach wykonanych z politetrafluoroetylenu. Podczas badań określono aktywność biologiczną czystej oraz pokrytej ZnO gazy opatrunkowej i tkaniny poliamidowej. Wykonano również próby domieszkowania otrzymywanych struktur ZnO srebrem. Badania wykazały, że na analizowanych materiałach zachodzi wzrost struktur tlenku cynku. Stwierdzono dobre właściwości biobójcze zmodyfikowanych materiałów włókienniczych. Ponadto przeprowadzono kompleksową analizę powierzchni cewników naczyniowych i urologicznych. Na ich powierzchni również tworzyły się warstwy tlenku cynku, lecz charakteryzowały się niską adhezją

Systemic therapies in advanced epithelioid haemangioendothelioma: A retrospective international case series from the World Sarcoma Network and a review of literature.

Background This observational, retrospective effort across Europe, US, Australia, and Asia aimed to assess the activity of systemic therapies in EHE, an ultra-rare sarcoma, marked by WWTR1-CAMTA1 or YAP1-TFE3 fusions.Methods Twenty sarcoma reference centres contributed data. Patients with advanced EHE diagnosed from 2000 onwards and treated with systemic therapies, were selected. Local pathologic review and molecular confirmation were required. Radiological response was retrospectively assessed by local investigators according to RECIST. Progression free survival (PFS) and overall survival (OS) were estimated by Kaplan-Meier method.Results Overall, 73 patients were included; 21 had more than one treatment. Thirty-three patients received anthracyclines regimens, achieving 1 (3%) partial response (PR), 25 (76%) stable disease (SD), 7 (21%) progressive disease (PD). The median (m-) PFS and m-OS were 5.5 and 14.3 months respectively. Eleven patients received paclitaxel, achieving 1 (9%) PR, 6 (55%) SD, 4 (36%) PD. The m-PFS and m-OS were 2.9 and 18.6 months, respectively. Twelve patients received pazopanib, achieving 3 (25%) SD, 9 (75%) PD. The m-PFS and m-OS were.2.9 and 8.5 months, respectively. Fifteen patients received INF-α 2b, achieving 1 (7%) PR, 11 (73%) SD, 3 (20%) PD. The m-PFS and m-OS were 8.9 months and 64.3, respectively. Among 27 patients treated with other regimens, 1 PR (ifosfamide) and 9 SD (5 gemcitabine +docetaxel, 2 oral cyclophosphamide, 2 others) were reported.Conclusion Systemic therapies available for advanced sarcomas have limited activity in EHE. The identification of new active compounds, especially for rapidly progressive cases, is acutely needed