Congenital myasthenic syndrome due to DOK7 mutation in a cohort of patients with 'unexplained' limb-girdle muscular weakness.

Congenital myasthenic syndromes (CMS) associated with pathogenic variants in the DOK7 gene (DOK7-CMS) have phenotypic overlap with other neuromuscular disorders associated with limb-girdle muscular weakness (LGMW). Genetic analysis of the most common mutation (c.1124_1127dupTGCC) in DOK7 was performed in 34 patients with "unexplained" LGMW associated with non-specific changes in muscle biopsy. Of the 34 patients, one patient showed the DOK7 c.1124_1127dupTGCC variant in homozygousity. Our study estimates the minimum prevalence of undiagnosed DOK7-CMS to be 2.9% in southern Brazilian patients from our centre. Our data confirm that clinicians should look for DOK7-CMS patients when the clinical manifestation is an 'unexplained' LGMW, mainly if associated with non-specific changes in muscle biopsy.

Clinical Pregnancy After Elimination of Embryo Fragments Before Fresh Cleavage-stage Embryo Transfer.

Objective: To determine if the elimination of fragments in cleavage-stage embryos, before fresh transfer, improves pregnancy rates in in vitro fertilization cycles. Materials and methods: This is a Prospective observational case-control study carried out at a University Reproductive Center. We included Twenty-six infertile patients divided into two groups. Group one: 13 patients with embryos classified as grade B and C (embryos with fragments) according to the Hill classification, and Group two: 13 patients with grade A embryos (embryos with no fragments). Embryo Defragmentation was performed in embryos of group one 65 to 68 hours after conventional fertilization. Fresh embryo transfer was made after two hours post fragments removal. Reproductive results were evaluated and compared between both groups. Results: The total number of clinical pregnancies was nine. In group one there were 5 (38.5 %); in group two, there were 4 (30.8%). The difference was not statistically significant (p = 0.68). Two abortions were reported in the study, both in group one; were fragment elimination was performed. This represents an abortion rate of 40% in patients who got pregnant in this group. These patients had twice the probability of suffering an abortion (OR 2.1; 95% CI 1.4-3.37). Ongoing pregnancies were similar in both groups. Conclusion: Removal of fragments in freshly transferred day three embryos could be an alternative to increase clinical pregnancy and ongoing pregnancy rates in patients who have only poor-quality embryos. Despite the relationship with a higher abortion rate, this strategy could represent a real alternative for this type of patient.

The elimination of apoptotic sperm in IVF procedures and its effect on pregnancy rate.

OBJECTIVE: To identify the effect of apoptotic sperm elimination with MACS in patients that require IVF. METHODS: An experimental, cross-sectional, descriptive, prospective and non-blinded study of diagnostic tests performed in patients who required IVF and ICSI from July 2011 to July 2012. Ninety-two couples participated according to the treatment administered to the semen sample; in the control group: the samples were subjected only to density gradients before ICSI, in the study group: the same procedure was performed plus the addition of the MACS technique. Comparing the groups, we assessed the fertilization, division, viable embryos and clinical pregnancy rates in all cases. RESULTS: We found significant differences when using MACS technique in sperm parameters. We found no differences between the total samples of the control and study groups. When separating the own and donated eggs in each group, we found an improvement in the fertilization rates (p<0.001) of the own eggs. In both groups, the handling of donated eggs lead to a significant improvement in the immunological pregnancy test (IPT) and fetal heart rate (FHR) results. Only in the donated eggs group, where MACS was applied, could we see that all cases with positive IPT had a fetal heart rate, which shows a significant difference (p<0.002) when compared with the control group, where the percentage decreased abruptly. CONCLUSIONS: This study demonstrates the effectiveness of the use of annexins (MACS) in eliminating apoptotic sperm, and when the obtained sperm is applied to good-quality eggs.

Alcoolemia em vítimas fatais de acidente de trânsito no Alto Vale do Itajaí, Santa Catarina, Brasil / Alcoolemy in people fatally injured in traffic crashes on Alto Vale do Itajaí, Santa Catarina, Brasil

O objetivo do estudo foi analisar dados referentes à alcoolemia encontrada em pacientes vítimas fatais de acidente de trânsito encaminhados ao IML de Rio do Sul entre 2004 e 2006. Foram analisados 248 prontuários de pacientes submetidos ao teste de alcoolemia onde 94 pacientes (38%) apresentavam alcoolemia positiva no sangue. Destes 93,6% eram do sexo masculino. Analisando a faixa etária viu-se que 82% estavam entre 17-49 anos. Os dias da semana com maior ocorrência foram sábado e domingo (59%). Ocorreram 65% dos casos entre 18 horas e 2 horas da manhã. Em relação ao mês do ano houve uma distribuição homogênea com discreta predominância nos meses de abril com 12 e dezembro com 13 casos. A BR 470 foi o local em que mais casos ocorreram com 31 óbitos. Os dados encontrados foram condizentes com a literatura.

The objective of the study was analyze data on alcohol found in patients suffering from fatal traffic accident referred to the legal center of necropsy of the ?Rio do Sul/SC? between the years 2004 to 2006. We analyzed records of 248 patients who underwent blood alcohol test, where 94 patients (38%) had positive blood alcohol. Of these 93.6% were male. Looking at the age has been that 82% were between 17-49 years. The days of the week with a higher occurrence was Saturday and Sunday (59%). 65% of cases occurred between 18 pm and 2 o?clock. Along the months of the year there was a homogenous distribution with slight predominance in April with 12 and December with 13 cases. The ?BR 470? was the place where most cases occurred with 31 deaths. Data were consistent with the literature.

[Laparoscopic treatment of ureterolithiasis: our experience]. / Tratamiento laparoscópico de la ureterolitiasis: nuestra experiencia.

OBJECTIVE: Analyze technical details and results of laparoscopic treatment of ureterolithiasis. MATERIALS AND METHODS: Between January 2005 and August 2008 it was performed laparoscopic ureterolithotomy in 22 patients in our service. Two (9%) by retroperitoneal access and 20 (91%) by transperitoneal access. Mean size of the calculi was 15 mm. with a variation from 8 mm to 23 mm. The calculus were in the upper tract in 18 patients (81.8%) and in mid ureter in 4 patients (18.2), any of the calculus were in lower ureter. Most of calculi were obstructive stones for more than 2 months. Eight patients were submited a previous section of extracorporeal shockwave lithotripsy and 2 by extracorporeal shockwave lithotripsy plus ureterolithotripsy as a calculi treatment attempt. Twelve patients had a laparoscopic ureterolithotomy as a primary indication for treatment. RESULTS: Laparoscopic ureterolithotomy was successful for 20 patients (90.9%), and the fails occurred in the beginning of our experiment. Mean operative time was 145 minutes with range from 70 to 240 minutes. The indwelling ureteral stent was used in 03 cases; 02 preoperative, and 01 postoperative. The ureteral suture was performed with absorbable 4.0 separated stitches in all patients. The global average of permanence in hospital was 3.3 days and the drain permanence was 7.2 days. The global complication rate was 13,6%. The global rate of stone free was 91%, and there were residual stone in 2 patients. CONCLUSIONS: The laparoscopic treatment of ureterolithiasis besides minimally invasive, it is viable, secure and very effective. It should have taken into consideration as a procedure to extracorporeal shockwave lithotripsy and ureteroscopy. But, in cases where there are obstructive stones for a long time, in selected patients and, in special, in patients with just one kidney, it can be considered as a first line treatment. About the access, if retroperitoneal or transperitoneal; it is not still possible to affirm which would be the best one, the option must take into account the surgeon preference and experience.

Metal mesh resonant filters for terahertz frequencies.

The interest in terahertz photometric and imaging measurements has motivated the development of bandpass resonant filters to be coupled to multiple-pixel devices such as bolometer arrays. Resonant grids are relatively simple to fabricate, exhibiting high transmission at the central frequency, a narrow bandpass, and good rejection of the side frequencies of the spectrum. We have fabricated filters centered at different frequencies between 0.4 and 10 THz, using photolithography and electroforming techniques. Transmission measurements have shown center frequencies and bandwidths close to the design predictions. The performance of the filters was found not to be critically dependent on small physical deformations in the mesh, becoming more noticeable at higher frequencies (i.e., for smaller physical sizes). Wider bandwidths, needed to attain higher sensitivities in the continuum, were obtained by changing the design parameters for filters at 2 and 3 THz.