Genotype-phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type II.

Mucopolysaccharidosis type II (Hunter syndrome, MPS II, OMIM 309900) is an X-linked lysosomal storage disorder caused by deficiency of iduronate-2-sulfatase (IDS). We analyzed clinical and laboratory data from 44 Slavic patients with this disease. In total, 21 Czech, 7 Slovak, 9 Croatian and 7 Serbian patients (43 M/1 F) were included in the study (median age 11.0 years, range 1.2-43 years). Birth prevalence ranged from 1:69,223 (Serbia) to 1:192,626 (Czech Rep.). In the majority of patients (71%), the disease manifested in infancy. Cognitive functions were normal in 10 patients. Four, six and 24 patients had mild, moderate, and severe developmental delay, respectively, typically subsequent to developmental regression (59%). Residual enzyme activity showed no predictive value, and estimation of glycosaminoglycans (GAGs) had only limited importance for prognosis. Mutation analysis performed in 36 families led to the identification of 12 novel mutations, eight of which were small deletions/insertions. Large deletions/rearrangements and all but one small deletion/insertion led to a severe phenotype. This genotype-phenotype correlation was also identified in six cases with recurrent missense mutations. Based on patient genotype, the severity of the disease may be predicted with high probability in approximately half of MPS II patients.

Dicyanobenzene and dicyanopyrazine derived X-shaped charge-transfer chromophores: comparative and structure-property relationship study.

A series of novel X-shaped push-pull compounds based on benzene-1,2-dicarbonitrile has been designed, synthesized and further investigated by X-ray analysis, electrochemistry, absorption and emission spectra, SHG experiment and quantum-chemical calculations. The obtained data were compared with those for isolobal 5,6-disubstituted pyrazine-2,3-dicarbonitriles. Structure-property relationships were elucidated. The extension, composition and planarization of the π-linker used as well as the electron-withdrawing ability of both dicyano-substituted acceptor units affect the linear and nonlinear properties of the target charge-transfer chromophores most significantly.

[Reconstruction of complex abdominal wall defects using the component separation technique]. / Rekonstrukce rozsáhlých defektu steny brisní metodou separace komponentu

INTRODUCTION: Reconstruction of complex abdominal wall defects is among the most demanding procedures in reconstructive surgery. Introduction of the method of component separation represents the most significant advance in the care of these patients. We present our experience with the component separation technique on a series of 44 patients. MATERIALS AND METHODS: We retrospectively reviewed patients operated on between 2009 and 2012. The inclusion criterion was the use of the component separation technique in the treatment of abdominal wall defect. The scoring criteria were recurrent hernia, wound hematoma, wound infection, skin necrosis and secondary healing. RESULTS: We operated on 44 patients in the above period. The etiology of the defects was most frequently hernia in the scar after midline laparotomy (n = 29; 66%) and after incision across the epigastrium for total gastrectomy (n = 3; 7%). The other defects (n = 12; 27%) were caused by a wide diastasis of the abdominal rectus muscles (width 8-10 cm). The most common complication was a hematoma in the lateral part of the wound which occurred in 7 patients (16%). We did not detect any hernia recurrence in the original abdominal wall defects. CONCLUSION: The method of components separation allows us to stitch the edges of the full-thickness abdominal wall to each other, even in cases of large hernias. The introduction of this technique into practice has reduced the risk of recurrence of large hernias without a significant increase in postoperative complications.

Treatment of umbilical hernia and recti muscles diastasis without a periumbilical incision.

PURPOSE: Postpartum rectus diastasis eventually combined with umbilical hernia is a condition that is frequently treated by plastic surgeons and general surgeons. Standard treatment of this condition is abdominoplasty with a periumbilical incision, which often results in an umbilical incision or an inverted-T scar. Limited incision abdominoplasty differs from traditional abdominoplasty by disconnecting the umbilical stalk from the abdominal wall during flap dissection, thus allowing the resection of excess skin above and under the umbilicus without causing periumbilical scarring. METHODS: We conducted a retrospective cohort study of women undergoing a limited scar abdominoplasty without a periumbilical incision for the treatment of a separation of the recti muscles and/or an umbilical hernia. We recorded the postoperative complications and patient satisfaction with the results of the treatment. RESULTS: We operated on 50 patients from 2002 to 2010. We followed the patients for 2-8 years. The most common complication, as with other abdominoplasty procedures, was minor dehiscention in the middle part of the wound, which occurred in 16 % (n = 8) of the patients. All of these complications were treated conservatively. No recurrence of diastasis or umbilical hernia was observed. CONCLUSIONS: Extended miniabdominoplasty with a low suprapubic incision and umbilical caudalization for treating the diastasis of the abdominal rectus muscles and/or an umbilical hernia is an excellent method that results in a small, hidden scar. This method is especially beneficial for young, slim women with an abdominal wall deformity after pregnancy.

Peculiarities of the environmental influence on the optical properties of push-pull nonlinear optical molecules: a theoretical study.

Gas-phase geometry optimization of NLO-active molecules is one of the standard approaches in the first principle computational methodology, whereas the important role of the environment is usually not considered during the evaluation of structural parameters. With a wide variety of environmentally influenced models in most cases only the high quality single point calculations are prepared. Among different approaches, the most used polarizable continuum model (PCM) seems to be promising. In this study, we have compared the electronic properties of gas-phase optimized geometries of imidazole-derived push-pull compounds with those optimized using PCM solvation approach including CH(2)Cl(2) and PMMA as media. We have focused particularly on the linear optical properties of investigated molecules, namely on the UV-vis absorption spectra. The analysis of presented results shows the applicability of the different quantum chemical (QC) methods for the UV-vis spectra calculations of linear NLO molecules. Herein we also present the need of molecule geometry optimization affected by the environment. Following the performed calculations, the electronic properties of gas-phase optimized molecules give conformable results with respect to those obtained by more time-consuming continuum optimizations. All computational data are supported by experimental investigations.

Optical operation by chromophores featuring 4,5-dicyanoimidazole embedded within poly(methyl methacrylate) matrices.

We have studied photoinduced absorption, birefringence, and optical second-harmonic generation in poly(methyl methacrylate) (PMMA) films doped by organic chromophores featuring 4,5-dicyanoimidazole in the weight content equal to 5%. The chromophores indicated as IM1-IM6 were synthesized from 2-bromo-1-methylimidazole-4,5-dicarbonitrile by either nucleophilic substitution or Suzuki-Miyaura cross-coupling reaction. The samples were obtained as films of several micrometers thickness by the spin-coating method on a quartz substrate. Measurements of the optically induced birefringence were done by the Senarmont method at wavelength 1150 nm, and photoinduced absorption was studied in the spectral range 250-700 nm under optical treatment by 300 mW cw 532 nm laser. Photoinduced optical effects were studied by bicolor 1064 and 532 nm coherent laser pulses. The maximal changes were observed for the ratio between fundamental and writing beam intensities equal to about 7:1. To interpret the observed experimental measurements, theoretical simulations of photoinduced optical properties were performed by quantum chemical computational methods.

Design, synthesis, and structure-activity relationship studies of ATP analogues as DNA gyrase inhibitors.

We report herein the design and synthesis of ATP-analogues, namely 4-amino-pyrazolo[3,4-d]pyrimidines and 4-amino-pyrazolo[1,5-a][1,3,5]triazines, with DNA gyrase inhibitory activity. Among these series, some compounds exhibited promising antibacterial activity.

[Incisional, stab and gunshot wounds of the abdomen and thorax]. / Rezná, bodná a strelná poranení bricha a hrudníku.

The authors give an account of the incidence and prognosis of the mentioned injuries treated during the past five years (1987-1991) at the surgical department of a district hospital in the centre of Prague. During the past two years a marked increase of these injuries was recorder. A total of 10 persons with abdominal injuries had ambulatory treatment and nine patients with injuries of the chest. During the same period 24 patients with abdominal injuries and 6 patients with chest injuries were hospitalized as well as four patients with combined abdominal and chest injuries. Nineteen ambulatory patients and 34 hospitalized patients during the five-year period are an ever increasing group of casualties who suffered injuries usually when drunk or due to violence.

[Utilization of psychiatric care]. / Spotreba psychiatrické péce.

The paper is an introduction to a series of articles summarizing hitherto assembled results in the research task P 12-335-806 DU 05 "Reflection of the biopsychosocial background of mental disorders on the consumption of health care" and deals with the first stage 01 "Improvement of the psychiatric information system". It gives an outline of the development of the psychiatric information system in Czechoslovakia, an account of the shortcomings of its present state and proposals for its improvement based on an automated psychiatric case register.

[Pathways to care]. / Cesty k péci.

The main objective of the study designed by the World Health Organization is to obtain information on provision of care for mental disturbances in various countries. The main pathways to mental health care based on the first results of an analysis obtained from two out-patient psychiatric departments of District Institutes of National Health in Benesov and Kromeríz in Czechoslovakia are described. The delays at different points, the problem and care provided are reviewed both as regards mental health care and previous other than mental health care.