Principles of concervative therapy of urolithiasis and prevention of stone formation recurrence

The modern view of treatment for various forms of nephrolithiasis reflects the main features of nephrolithiasis pathogenesis, but changes in metabolic condition, the presence of dysmetabolism, and the course of pathologic process are not taken into account. Considering that the disease is easier to prevent than to treat, it would be more appropriate to base preventive measures not only on the data from general clinical and biochemical examination, but also on the results of aggregatometry and complex chromato-mass-spectrometric examination allowing prediction of the development of the pathologic process.     

Specific immunoglobulins of different classes in brucellosis in human beings

The paper is concerned with the results of studying the level of specific IgG, IgA and IgM in people with different forms of brucellosis. Immunoglobulins belonging to different classes were identified by means of IEA. Examination of 514 patients with different forms of brucellosis and 122 controls demonstrated the high specificity and sensitivity of IEA for detecting antibodies of different physiochemical nature. The use of IEA made it possible to establish definite regularities of the synthesis of specific IgG, IgA, IgM in people with brucellosis, which can be used for assessing the activity of the infectious process.     

Does continuous flow apheresis influence viability in allogeneic hematopoietic stem cell harvest?

One of the important clinical variables determining the success of hematopoietic stem cell transplantation is the number of viable CD34+ stem cells transfused to the patient. G-CSF mobilized peripheral blood stem cells from 17 healthy donors were collected by continuous flow apheresis. The median (range) proportions of early apoptotic (Annexin V-FITC(pos)/7-AAD(neg)) and viable (Annexin V-FITC(neg)/7-AAD(neg)) CD45(dim)CD34+ stem cells were 1.5 (0.9-3.7)% and 97.7 (82.8-100)% in the peripheral blood before apheresis and 2.6 (0.8-7.9)% and 97.3 (91.9-99)% in the apheresis products, respectively. Despite an increase in the number of apoptotic cells among all cell compartments, this was statistically significant only in CD34+ cells and granulocytes. The majority of the cells still retained their viability.     

Primary antibody deficiencies in Turkey: molecular and clinical aspects

Primary antibody deficiencies (PAD) are the most common subtype of primary immunodeficiencies, characterized by increased susceptibility to infections and autoimmunity, allergy, or malignancy predisposition. PAD syndromes comprise of immune system genes highlighted the key role of B cell activation, proliferation, migration, somatic hypermutation, or isotype switching have a wide spectrum from agammaglobulinemia to selective Ig deficiency. In this study, we describe the molecular and the clinical aspects of fifty-two PAD patients. The most common symptoms of our cohort were upper and lower respiratory infections, bronchiectasis, diarrhea, and recurrent fever. Almost all patients (98%) had at least one of the symptoms like autoimmunity, lymphoproliferation, allergy, or gastrointestinal disease. A custom-made next-generation sequencing (NGS) panel, which contains 24 genes, was designed to identify well-known disease-causing variants in our cohort. We identified eight variants (15.4%) among 52 PAD patients. The variants mapped to BTK (n?=?4), CD40L (n?=?1), ICOS (n?=?1), IGHM (n?=?1), and TCF3 (n?=?1) genes. Three novel variants were described in the BTK (p.G414W), ICOS (p.G60*), and IGHM (p.S19*) genes. We performed Sanger sequencing to validate pathogenic variants and check for allelic segregation in the family. Targeted NGS panel sequencing can be beneficial as a suitable diagnostic modality for diagnosing well-known monogenic PAD diseases (only 2–10% of PADs); however, screening only the coding regions of the genome may not be adequately powered to solve the pathogenesis of PAD in all cases. Deciphering the regulatory regions of the genome and better understanding the epigenetic modifications will elucidate the molecular basis of complex PADs.

     

Correction to: Primary antibody deficiencies in Turkey: molecular and clinical aspects

Immunologic Research -     

Bilateral massive pulmonary thromboembolism in a young patient treated with supportive measures and an inferior vena cava filter with excellent outcome

Acute pulmonary embolism (PE) is a common and often fatal disease with a mortality rate of more than 30% in untreated patients. There is a twofold increase in mortality in patients with massive PEs who do not receive treatment. Recurrent embolism is the most common cause of death. A 48-year-old woman presented to Tan Tock Seng Hospital, Singapore, on December 16, 2009, with a massive pulmonary thromboembolism. She was admitted to the intensive care unit and treated with supportive measures, ventilatory support, antibiotics and ionotropes. The patient was diagnosed with urosepsis with septicemic shock, disseminated intravascular coagulation, acute renal failure, high anion gap metabolic acidosis, iron-deficiency anemia secondary to menorrhagia, and a uterine mass with high cancer antigen 125, although malignancy was ruled out. Anticoagulation or thrombolysis could not be provided in view of coagulopathy. The patient subsequently underwent inferior vena cava filter insertion on December 31, 2009. The patient showed clinical improvement over the next two weeks with antibiotics and supportive measures. If there is a contraindication to anticoagulation or thrombolysis, massive pulmonary thromboembolism should be treated aggressively with supportive measures. Inferior vena cava filter insertion should be instituted early to prevent recurrent PE, which can be fatal. It may take weeks before the patient displays clinical improvement.     

The relation of serum vascular endothelial growth factor level with disease duration and activity in patients with rheumatoid arthritis

Vascular endothelial growth factor (VEGF) is known to be involved in the pathogenesis of rheumatoid arthritis (RA). In order to elucidate the association between VEGF levels and RA disease activity, VEGF concentrations were measured in RA patients at different phases and severity levels. Thirty-eight healthy subjects and 40 patients with RA were prospectively included in the study. Subjects were further categorized into four subgroups (high, moderate, low, or remission) using the disease activity score-28 (DAS28) scoring system. VEGF levels were significantly higher in patients than controls (p < 0.001). VEGF levels differed significantly in controls, early and late-phase RA patients (p = 0.002). A significant difference was found between controls and patients with high RA disease activity scores (p < 0.0001). VEGF levels were not correlated with age (r = −0.016; p = 0.921) or sex (r = 0.209; p = 0.921). VEGF values were correlated with erythrocyte sedimentation rate (r = 0.445; p = 0.004), but was not correlated with serum rheumatoid factor levels (r = −0.130; p = 0.424) in the patient group. In conclusion, higher VEGF levels are associated with late phase and high disease activity in RA, independent of age and sex.     

Plasma levels of tumor necrosis factor-α and its receptors in patients with mitral stenosis and sinus rhythm undergoing percutaneous balloon valvuloplasty

This study aimed to determine whether plasma levels of tumor necrosis factor-α (TNF-α) and soluble TNF receptor (sTNF-R) increases in rheumatic mitral stenosis (MS) patients with sinus rhythm and to examine the effect of percutaneous mitral balloon valvuloplasty (PMBV) on these parameters. Twenty-six patients with MS and sinus rhythm (study group, 20 female, mean age 33 ± 8 years), who were scheduled for PMBV, and a well-matched control group consisting of 21 healthy volunteers (15 female, mean age 35 ± 6 years) were enrolled in the study. Tumor necrosis factor-α and sTNF-R levels were compared between study patients and controls, and between peripheral and left atrium (LA) blood. Changes in TNF α and sTNF-R levels 24 h and 4 weeks after PMBV were analyzed. Significantly higher baseline TNF-α and sTNF-R levels were noted in the study group. In the study group, TNF-α and its receptors were also found to be higher in LA blood than in baseline peripheral blood. After PMBV, mitral valve area (MVA) increased and transmitral pressure gradient decreased significantly. At the 24th hour after PMBV, the TNF-α level decreased from 29.61 ± 12.22 pg/ml to 22.42 ± 8.81 pg/ml (P < 0.0001) and at the 4th week, from 22.42 ± 8.81 pg/ml to 18.92 ± 7.37 pg/ml (P < 0.0001). Similar reductions were observed in the sTNF-R level. Regression analysis between the difference in sTNF-R level measured 24 h after and before PMBV and the difference in MVA measured 24 h after and before PMBV showed a significant direct relationship between these variables. This study suggests that isolated rheumatic MS without atrial fibrillation is accompanied by increased TNF-α and sTNF-R level. The successful PMBV establishes a significant reduction in TNF-α and its receptors, probably due to improved postprocedural hemodynamic parameters.     

Posaconazole for the treatment of mucormycosis

Posaconazole (PCZ) is an orally administered, extended-spectrum triazole antifungal agent with activity against the Mucorales. This article describes the clinical and laboratory data supporting its use against this rare group of pathogens. To date, PCZ has been mostly used for salvage therapy and at present there is no strong published clinical evidence to support its role as a single agent in the treatment of mucormycosis. Further studies are required to explore its role as a single agent and in combination therapy for the management of these infections.