Infective endocarditis in the 1980s: Experience at a heart hospital

Three hundred episodes of infective endocarditis (IE) in 287 patients were studied from October 1978 to August 1986. The patients were in the age range of 0.2–78 (mean 30.76±16.06) years; 185 (68%) occurred in male patients. The etiologic agents were: Streptococci viridans group (93), enterococci (21), streptococci D group, nonenterococci (19), other streptococci (14), Staphylococcus aureus (59), Staphylococcus epidermidis (14), gram-negative bacteria (16), other gram-positive bacteria (16), fungi (4). Etiologic agents were not isolated in 52 (negative cultures). Valvular heart diseases occurred in 231 episodes, congenital heart diseases in 37, other heart diseases in 6. Sixty-nine occurred in patients with prosthetic heart valves. In 69 there was no previous heart disease. Surgical treatment was performed in 102 episodes (37 with prosthetic valve IE and 65 with native valve IE); 22 patients (21%) died, 12 with prosthetic valve and 10 with native valve IE. The in-hospital mortality (medical and surgical patients) was 26% (78 patients). Long-term follow-up of 206 patients up to 7.1 (mean 2.13±1.68) years revealed that 26 patients died. Thus, IE remains a disease with high mortality and is fatal to a third of the patients, in spite of the progress in therapeutic methods. Its morbidity and mortality continues beyond the microbiological cure.     

A new gene-pseudogene fusion allele due to a recombination in intron 2 of the glucocerebrosidase gene causes Gaucher disease

Gaucher disease is the most prevalent sphingolipid storage disorder in humans caused by a recessively inherited deficiency of the enzyme glucocerebrosidase. More than 100 mutations have been described in the glucocerebrosidase gene causing Gaucher disease. Some of them are complex alleles with several mutations due to recombination events between the gene and its highly homologous pseudogene. The generation of these recombinant alleles involves, in most cases, a crossover in the 3' end of the gene, beyond exon 8. However, in a few cases recombination took place in a more upstream location. Here we describe the analysis of a patient with type I Gaucher disease who bears a new complex allele. This allele was originated by a crossover between the gene and the pseudogene at intron 2, the most upstream recombination site described so far, which gave rise to a fusion gene. The patient was first diagnosed as homozygous for the c.1226 A --> G (N370S) mutation but the early onset of the disease prompted us to perform parental DNA analysis which showed that the mother was not a N370S carrier, suggesting deletion of at least part of the gene. Molecular analysis of the complex allele was carried out by Southern blot, PCR, and sequencing. We were able to close down the region of the recombination event to an interval of 18 nucleotides, corresponding to the last 15 nucleotides of intron 2 and the first 3 nucleotides of exon 3 of the gene. These 18 nucleotides are identical between the gene and pseudogene making any further refinement impossible. An exhaustive list of published glucocerebrosidase complex alleles, describing their recombination points, is included for comparison.     

Mitral valve repair. Quadrangular resection of the posterior leaflet in patients with myxomatous degeneration

OBJECTIVE - To analyze the immediate and late results of mitral valve repair with quadrangular resection of the posterior leaflet without the use of a prosthetic ring annuloplasty. METHODS - Using this technique, 118 patients with mitral valve prolapse who underwent mitral repair from January '84 through December '96 were studied. Age ranged from 30 to 86 (mean = 59.1+/-11.8) years and 62.7% were males. An associated surgery was performed in 22% of the patients, and coronary artery bypass graft was the most frequently performed surgery (15 patients - 12.7%). In 20 (16.9%) patients other associated techniques of mitral valve repair were used and shortening of elongated chordae tendineae was the most frequent one (6 patients). RESULTS - Immediate mortality was 0.9% (one patient). Long-term rates for thromboembolism, endocarditis, re-operation and death in the late postoperative period were 0.4%, 0.4%, 1.7% and 2.2% patients/year, respectively. The actuarial curve of survival was 83.8+/-8.6% over 12 years; survival free from re-operation was 91.8+/-4.3%, free from endocarditis was 99.2+/-0.8% and free from thromboembolism was 99.2+/-0.8%. In the late postoperative period, 93.8% of the patients were in functional class 1 (NYHA), with a complete follow-up in 89.7% of the patients. CONCLUSION - Patients with mitral valve prolapse who undergo mitral valve repair using this technique have a satisfactory prognosis over 12 years.     

Retention of semifloating electrode catheter

A semifloating electrode was prophylactically inserted in an 84-year-old man because of the presence of bifascicular block and the suspicion of acute myocardial infarction. After 6 days it was decided to remove the electrode, but its extraction was not possible. This case demonstrates that retention of semifloating electrode, although a rare complication of temporary right ventricular pacing, is more than a theoretical hazard.     

L1 expression as a predictor of progression and survival in patients with uterine and ovarian carcinomas

Ovarian and uterine carcinomas are the most common cause of cancer-related deaths in gynecological malignant diseases. We aimed to assess whether the L1 adhesion molecule, an important mediator for cell migration for neural and tumour cells, is expressed in these carcinomas.     

Urticaria in children and adolescents: An updated review of the pathogenesis and management

The present survey represents the latest data on diagnosis and management of childhood urticaria. It has been observed that urticaria occurs less often in children than adults, with symptoms rarely lasting for over 6 weeks. Triggers or aggravating factors can be found only in 21%‐55% of cases. Finding autoantibodies in children does not impact a disease prognosis, unlike in adult patients, where the presence of autoantibodies is associated with a more prolonged run of the disease, a more severe prognosis and more intensive treatment methods. The incidence of food allergy equals to 8%‐10% of cases. The incidence of Helicobacter Pylori infection in children is lower than that in adults and comes to 10%‐18%. Medical experts recommend using the same treatment schemes for adults and children. This survey describes different urticaria management patterns suggested by experts from Europe, America, and Russia in their recent guidelines. It has been noted that unlike the guidelines from 2014, the 2018 clinical practice guidelines for the diagnosis and management of urticarial once again suggest a four‐step treatment scheme with assigning omalizumab for Step 3 and cyclosporine A for Step 4 in the event of low therapeutic efficacy of the previous step or its impossibility. Leukotriene antagonists (LTRAs) are currently removed from basic management to alternative programs.     

麻力胡利亚（抑郁症）维吾尔医诊疗指南

麻力胡利亚（抑郁症）是一种常见的情绪障碍性疾病,是以心情显著而持久的低落为主要症状,并且伴有相应的思维、行为改变的疾病,引起抑郁症的病因复杂,如：外界压力、疾病,长期用药、内分泌失调、基因遗传等。     

Differentiation of the observed low frequency (1200MHz) EPR signals in whole human teeth.

We have determined the properties of the various signals that are observed in vivo so this information can be used to develop procedures for data acquisition and data analysis that will enable the accurate determination of radiation-induced dose with a resolution of 50cGy. Using the 1200MHz in vivo EPR spectrometer and isolated human teeth, we found four types of signals whose properties overlap, but also have some distinct properties that can be exploited to resolve them. The intrinsic background signal in human teeth differs modestly from the radiation-induced signal in g-factor, shape, and power saturation. Random noise from instrumental conditions can be reduced with signal averaging. The microphonic signal varies with the particular experimental setup and has some properties similar to real EPR signals, but is constant if the conditions are not changed. It can be suppressed by improvements in hardware and software, or subtracted.