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OBJECTIVE: To evaluate clinical efficacy and cost-effectiveness of vTAPP for small/M3W1 hernias compared to IPOM. MATERIAL AND METHODS: We retrospectively analyzed a prospectively recruited group of patients. Study objects were patients undergoing ventral laparoscopic transabdominal preperitoneal hernia repair (vTAPP) for primary Midline/Lateral Small hernias up to 2 cm. The control group comprised patients after IPOM procedure. RESULTS: We analyzed 179 patients: vTAPP (n=132) and IPOM groups (n=47). The vTAPP group was characterized by significantly shorter hospitals-stay (Q1-Q3: 8-70 hours, p<0.001), fewer relapses (n=2, p=0.047) and slightly longer surgery (Q1-Q3: 40-80 min, p=0.037). Cost-effectiveness analysis revealed 3.39 times more profitable vTAPP compared to IPOM. CONCLUSION: Laparoscopic preperitoneal hernia repair is a safe and effective method not requiring special tools and consumables. This approach is applicable as an outpatient (or <24h hospital-stay) method.
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Hérnia Ventral , Humanos , Estudos Retrospectivos , Hérnia Ventral/diagnóstico , Hérnia Ventral/etiologia , Hérnia Ventral/cirurgia , Hospitalização , Tempo de Internação , HospitaisRESUMO
OBJECTIVE: To identify the relationship between serum CRP/albumin and bronchial suture failure after pneumonectomy. MATERIAL AND METHODS: A retrospective analysis included 100 patients who underwent pneumonectomy with extended lymph node dissection for lung cancer. Patients were divided into 2 groups depending on postoperative complications: group 1 - bronchial stump failure, group 2 - no similar complications. In all patients, we analyzed markers of inflammation (C-reactive protein and albumin) in preoperative period and after 24 postoperative hours. Bronchial stump failure was found in 20 patients (10 patients (14.7%) after left-sided pneumonectomy and 10 (31%) patients after right-sided pneumonectomy). We found a significant relationship between serum CRP/albumin and bronchial stump failure after pneumonectomy (p<0.05). A prognostic formula was based on the ratio of serum C-reactive protein and albumin: PC = CRP/Alb, where PC - prognostic coefficient, CRP - serum C-reactive protein (mg/l) 24 hours after surgery, Alb - serum albumin (g/l) 24 hours after surgery. PC >2.6 determines high risk of bronchial stump failure after pneumonectomy, PC <2.6 - low risk. Sensitivity of this method is 90%, specificity - 97.5%.
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Fístula Brônquica , Neoplasias Pulmonares , Humanos , Fístula Brônquica/cirurgia , Pneumonectomia/efeitos adversos , Proteína C-Reativa , Estudos Retrospectivos , Neoplasias Pulmonares/cirurgia , Albuminas , SuturasRESUMO
OBJECTIVE: To identify the relationship between speech impairment as measured by the Russian Aphasia Test (RAT) and functional communication as assessed by the Communicative Effectiveness Index (CETI). MATERIAL AND METHODS: RAT and CETI were administered to 87 patients at two time points, before surgery and in 3 months after brain tumor resection surgery. RESULTS: There were significant correlations between CETI and the total scores on RAT subtests for speech comprehension and production before surgery but not in the follow-up period. CONCLUSION: The present research is the first to present the Russian version of CETI and to confirm the relationship between speech disorders measured by the comprehensive standardized battery for evaluating speech function RAT and functional communication as measured by CETI.
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Afasia , Neoplasias Encefálicas , Humanos , Testes de Linguagem , Comunicação , Fala , Distúrbios da Fala , Neoplasias Encefálicas/complicações , Neoplasias Encefálicas/diagnósticoRESUMO
OBJECTIVE: To investigate enteral nutrition as a component of postoperative rehabilitation after reconstructive esophageal and gastric surgeries. MATERIAL AND METHODS: The study included 217 patients who underwent reconstructive esophageal and gastric surgeries between 2010 and 2020. In the main group (n=121), patients underwent postoperative enhanced recovery program (ERAS). Early enteral feeding including micro-jejunostomy and early oral feeding was essential for postoperative management. The control group included 96 patients who were treated in traditional fashion. The primary endpoint was length of hospital-stay (LOS) and ICU-stay. Restoration of gastrointestinal function (peristalsis, stool, oral nutrition), anastomotic leakage rate and other complications comprised secondary endpoints. RESULTS: Both groups did not differ by sex, age, body mass index, diagnosis and comorbidities. There was significant reduction in postoperative LOS in the ERAS group (14 (12; 15.8) and 9 (6.3; 12) days, p<0.0001). In the same group, we observed less in ICU-stay (4.7 (3.6; 5.6) and to 3.5 (2; 4) days, p<0.001), earlier recovery of peristalsis and X-ray control of anastomosis in patients with and without anastomotic leakage. Incidence of respiratory complications was lower in the ERAS group (p=0.034). Overall postoperative morbidity and mortality were similar. CONCLUSION: Early enteral and oral feeding after esophageal and gastric reconstructive surgery reduces hospital-stay and accelerates postoperative rehabilitation.
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Procedimentos Cirúrgicos do Sistema Digestório , Neoplasias Esofágicas , Procedimentos de Cirurgia Plástica , Humanos , Nutrição Enteral/efeitos adversos , Fístula Anastomótica/epidemiologia , Fístula Anastomótica/etiologia , Fístula Anastomótica/prevenção & controle , Procedimentos de Cirurgia Plástica/efeitos adversos , Anastomose Cirúrgica , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/etiologia , Complicações Pós-Operatórias/prevenção & controle , Tempo de Internação , Esofagectomia , Neoplasias Esofágicas/cirurgiaRESUMO
Small vessel disease is a prevalent age-related condition linked to increased risk of dementia and stroke. We investigate the most commonly inherited form, CADASIL, caused by cysteine-involving mutations in NOTCH3. Recent studies highlight accumulation of NOTCH3 N-terminal fragmentation product (NTF) in disease. In vitro, NTF is capable of both spontaneous and catecholamine-enhanced cysteine-mediated oligomerization. Despite well-characterized genetic influence on CADASIL, environmental effects, including medication usage, on disease remain unclear. We studied effects of assorted electrophilic compounds and drugs on NTF oligomerization by SDS-PAGE and dynamic light scattering. We then examined direct proton pump inhibitor-NTF binding with antibodies designed against proton pump inhibitor-labeled proteins and mass spectrometry. Finally, we used monoclonal NTF antibodies with Proximity Ligation Assay to identify NTF oligomers in 3 CADASIL and 2 age-matched control brains. We identified enhancement of NTF oligomerization by two electrophilic cysteine-modifying compounds, N-ethylmaleimide and iodoacetamide, and an electrophilic compound capable of oxidizing cysteines, ferric chloride. Electrophilic clinical drugs (fenoldopam, omeprazole, tenatoprazole, lansoprazole, and rabeprazole) also promoted oligomerization, and we identified direct omeprazole-NTF and tenatoprazole-NTF complexes. Additionally, we provide novel evidence of NTF multimers in human CADASIL brains. A broad array of electrophilic chemicals, including clinically relevant drugs, influences oligomerization of a pathological CADASIL protein, providing mechanistic insight into disease protein oligomerization. We posit that environmental influences, which may include usage of electrophilic drugs, may affect CADASIL presentations.
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CADASIL , Preparações Farmacêuticas , Encéfalo/metabolismo , Cisteína , Humanos , Mutação , Receptor Notch3/genética , Receptores Notch/genéticaRESUMO
In real clinical practice, back pain in young patients is associated with neurological manifestations of degenerative changes in the lumbosacral spine. However, such complaints may be a manifestation of a lesion of the sacroiliac joint-sacroiliitis, and degenerative changes in the spine may accompany it, but not cause pain. Sacroiliitis is an inflammatory lesion of the sacroiliac joint, which can develop as an independent disease or as a symptom of another nosology. The causes of this pathology are diverse: injuries, long-term overloading of the joint, congenital abnormalities of the joints, infectious or systemic diseases, and tumors. In neurological practice, sacroiliitis is similar to myofascial syndromes and can disguise as degenerative diseases of the spine, so early diagnosis and proper therapy are of particular importance. Awareness of doctors about the features of examination of young patients, the use of neuroimaging techniques (CT, MRI), laboratory diagnostics, will help to improve the results of therapy. Prescription of NSAIDs with a pronounced anti-inflammatory potential will slow down the progression of the inflammatory process.
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Sacroileíte , Dor nas Costas , Humanos , Imageamento por Ressonância Magnética , Articulação Sacroilíaca , Coluna VertebralRESUMO
This paper presents a case report of subtentorial progressive multifocal leukoencephalopathy (PML) in a 26-year-old female patient treated with natalizumab. The evolution of clinical features, neuroimaging data and treatment as well as the development of immune reconstitution inflammatory syndrome (IRIS) are described. This case emphasizes the importance to keep accurately the risk management plan during natalizumab treatment. This includes performing MRI scans in order to detect changes typical for PML at the earliest (preclinical) stage in time.
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Síndrome Inflamatória da Reconstituição Imune , Fatores Imunológicos , Leucoencefalopatia Multifocal Progressiva , Esclerose Múltipla , Natalizumab , Adulto , Anticorpos Monoclonais Humanizados , Feminino , Humanos , Fatores Imunológicos/efeitos adversos , Leucoencefalopatia Multifocal Progressiva/induzido quimicamente , Esclerose Múltipla/tratamento farmacológico , Natalizumab/efeitos adversos , NeuroimagemRESUMO
Analysed herein are the results of endovascular revascularization of the superior mesenteric artery (SMA). The study included a total of 18 patients with acute impairment of mesenteric circulation in the stage of intestinal ischaemia. The patients underwent multispiral computed tomography (MSCT) and once impairments of blood flow in the SMA were revealed, we performed endovascular revascularization of the artery. Patency of the SMA was assessed by repeat contrast-enhanced MSCT. Thirteen (72.2%) patients were found to have occlusion in the system of the SMA and five (27.8%) were diagnosed as having significant stenoses of the SMA. All 13 patients with occlusion of the SMA underwent vacuum thrombextraction followed by transluminal balloon angioplasty (TBA). Of these, thrombotic masses were obtained in 11 (84.6%) patients. Stents were implanted in 3 cases wherein TBA turned out inefficient. The patients with haemodynamically significant stenoses of the SMA were subjected to TBA followed by stent implantation. Good roentgenoendovascular results of restoration of blood flow through the SMA and its branches were obtained in 83.4% of cases. Assessing blood parameters and patients' condition severity revealed positive dynamics or a tendency towards improvement. The mortality rate amounted to 16.6%. A conclusion drawn is that this technique is efficient and appropriate for SMA lesions of any localization.
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Procedimentos Endovasculares , Isquemia Mesentérica , Oclusão Vascular Mesentérica , Humanos , Artéria Mesentérica Superior , Oclusão Vascular Mesentérica/terapia , Circulação Esplâncnica , Stents , Resultado do TratamentoRESUMO
Lanthanum tungstate (LWO) and LWO with 20 at.% and 35 at.% molybdenum substituting tungsten were prepared by the Pechini method. Phase purity and successful Mo substitution inside these dense LWO membrane materials were confirmed by conventional and high resolution transmission electron microscopy techniques. The split of La2/W2 site by around 0.3 Å was proven. Extra reflections show up in the diffraction patterns from Mo-substituted LWO, and together with simulations, these reflections were recognized as forbidden reflections in a non-substituted LWO system, while the extinction rules are broken by Mo substitution due to the different scattering factors of W and Mo. Energy-dispersive X-ray chemical mapping allowed direct visualization of individual atomic columns, and revealed that all Mo is located at the W1 sites in the Mo-substituted LWO. Moreover, the diffuse scattering in diffraction patterns provides direct evidence of short range clustering of oxygen vacancies and could be further related to the oxygen conduction of the LWO membranes.
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The importance of control for nosocomial and community-acquired infections is one of the priorities of practical surgery, and maxillofacial surgery is no exception in this matter. Aim of study - to determine the spectrum of antimicrobial activity of widespread antiseptics and antibacterial agents used for topical treatment of odontogenic phlegmons of the maxillofacial region. A bacteriological study of purulent wound exudate was carried out for 109 patients of the maxillofacial hospital department with a diagnosis of odontogenic phlegmons. Using the method of "draw-wells" the sensitivity of the isolated bacterial cultures to solutions of decamethoxin, dioxidine, formaldehyde, and sanguiritrin was determined. Using the dilution method microbicide concentrations of decamethoxin and miramistin were determined by influencing the clinical and museum strains of pathogenic bacteria. In purulent exudate the monocultures of staphylococci were determined - 79 (40.1%), and streptococci - 86 (43.65%), aerobic non-fermenting bacteria - 11 (5.60%) and enterobacteria - 21 (10,65%) were found much less often. Isolated from S. aureus and E. coli proved to be sensitive to solutions of decamethoxin, formaldehyde and sanguiritrin; isolated strains of P. aeruginosa - only to decamethoxin and formaldehyde. Microbicide concentrations of decamethoxin were 4-35 times lower than miramistin due to effect on clinical and museum strains of bacteria. Efficiency of decamethoxin was higher.
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Anti-Infecciosos , Infecções por Escherichia coli , Infecções Estafilocócicas , Antibacterianos , Anti-Infecciosos/uso terapêutico , Infecção Hospitalar/prevenção & controle , Escherichia coli/efeitos dos fármacos , Infecções por Escherichia coli/prevenção & controle , Departamentos Hospitalares , Humanos , Testes de Sensibilidade Microbiana , Infecções Estafilocócicas/prevenção & controle , Staphylococcus aureus/efeitos dos fármacos , SupuraçãoRESUMO
A review of scientific literature data on clinical and epidemiological characterization of viral hepatitis B, C and Epstein-Barr viral infection is presented. Scopus, Web of Science, MedLine, The Cochrane Library, PubMed, CyberLeninka, RSCI databases were used to find the necessary literature. It was shown that Epstein-Barr virus along with hepatitis B and C viruses plays a significant role in the development of virus-mediated autoimmune liver diseases, as well as other organs (intestine, heart, kidneys, thyroid gland, etc.). The similarity of these nosologies is also evident in the nature of the course of the disease: the presence of a primary infection in a manifest or latent form, with possible subsequent chronization of the process and its periodic reactivation. Wide distribution of pathogens in the human population determines the possibility of mixed infections with Epstein-Barr virus and hepatitis B and C viruses, however, this problem has not been adequately described in the scientific literature. The review suggests that the role of Epstein-Barr virus in the development of liver diseases and extrahepatic pathology should not be ignored, and the combination of this pathogen with hepatitis B and C viruses required further in-depth studies.
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Infecções por Vírus Epstein-Barr/patologia , Hepacivirus/patogenicidade , Vírus da Hepatite B/patogenicidade , Hepatite B/patologia , Hepatite C/patologia , Herpesvirus Humano 4/patogenicidade , Fígado/patologia , Coinfecção , Infecções por Vírus Epstein-Barr/imunologia , Infecções por Vírus Epstein-Barr/virologia , Hepacivirus/crescimento & desenvolvimento , Hepacivirus/imunologia , Hepatite B/imunologia , Hepatite B/virologia , Vírus da Hepatite B/crescimento & desenvolvimento , Vírus da Hepatite B/imunologia , Hepatite C/imunologia , Hepatite C/virologia , Herpesvirus Humano 4/crescimento & desenvolvimento , Herpesvirus Humano 4/imunologia , Humanos , Fígado/imunologia , Fígado/virologia , Carga Viral , Ativação Viral/imunologia , Replicação Viral/imunologiaRESUMO
In addition to accumulation and metabolism of triglycerides, white adipose tissue is recognized as the active endocrine organ, whose dysfunction is associated with the development of a wide range of diseases. The secretome of adipocytes is represented by a wide range of adipokines, which vary in depot and sex-specific manner. In addition, adipokines have diverse biological effects, correlations with different metabolic features and functions. In this review, the data on biological effects, origin and the clinical significance of adipokines are discussed. The influence of adipokines on metabolism, sensitivity to insulin, vascular homeostasis, angiogenesis, repair, inflammation and immune cells are shown. Visceral adipose tissue accumulation is accompanied with adipocytes hypertrophy and overproduction of such proinflammatory and proaterogenic molecules like resistin, visfatin, vaspin, tumor necrosis factor, interleukin 6, lipocalin, glypican 4, RBP4 etc. There is a tight correlation between these adipokines level and development of insulin resistance, type 2 diabetes, cardiometabolic complications and cancer. Thus, adipokines represent a group of informative biomarkers for the diagnostics of metabolic disorders and the prediction of the outcome of the wide range of diseases. The study of the effects and mechanisms of the action of adipokines is the basis for determining new targets for therapy.
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Adipócitos Brancos/metabolismo , Adipocinas/genética , Tecido Adiposo Branco/metabolismo , Doenças Cardiovasculares/metabolismo , Diabetes Mellitus Tipo 2/metabolismo , Neoplasias/metabolismo , Adipócitos Brancos/citologia , Adipócitos Brancos/imunologia , Adipocinas/imunologia , Tecido Adiposo Branco/citologia , Tecido Adiposo Branco/imunologia , Biomarcadores/metabolismo , Doenças Cardiovasculares/genética , Doenças Cardiovasculares/imunologia , Doenças Cardiovasculares/patologia , Diabetes Mellitus Tipo 2/genética , Diabetes Mellitus Tipo 2/imunologia , Diabetes Mellitus Tipo 2/patologia , Regulação da Expressão Gênica , Humanos , Resistência à Insulina , Metaboloma/imunologia , Neoplasias/genética , Neoplasias/imunologia , Neoplasias/patologia , Neovascularização Fisiológica/imunologia , Fatores Sexuais , Transdução de Sinais , Triglicerídeos/imunologia , Triglicerídeos/metabolismoRESUMO
The EPR spin-trapping technique and EPR-oximetry were used to study generation of superoxide radicals in heart mitochondria isolated from Wistar rats under conditions of variable oxygen concentration. Lithium phthalocyanine and TEMPONE-15N-D16 were chosen to determine oxygen content in a gas-permeable capillary tube containing mitochondria. TIRON was used as a spin trap. We investigated the influence of different oxygen concentrations in incubation mixture and demonstrated that heart mitochondria can generate superoxide in complex III at different partial pressure of oxygen as well as under the conditions of deep hypoxia (< 5% O2). Dinitrosyl iron complexes with glutathione (the pharmaceutical drug "Oxacom") exerted an antioxidant effect, regardless of the value of the partial pressure of oxygen, but the magnitude and kinetic characteristics of the effect depended on the concentration of the drug.
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Ferro/química , Mitocôndrias Cardíacas/química , Óxidos de Nitrogênio/química , Oxigênio/química , Superóxidos/química , Animais , Antioxidantes/química , Antioxidantes/metabolismo , Hipóxia Celular , Glutationa/química , Ferro/metabolismo , Mitocôndrias Cardíacas/metabolismo , Óxidos de Nitrogênio/metabolismo , Oxigênio/metabolismo , Pressão Parcial , RatosRESUMO
The article presents the distribution of patients older than working age, retired from the hospital, analyzed the hospitalized morbidity by classes of diseases and separate nosology in the Russian Federation for the period 2010-2014 years (according to the form of Federal statistical observation â 14). During the study period, the number of persons of retirement age, people released from hospital care, increased by 13,45 % reported a slight increase in the rate of hospital morbidity by 0,14 %. The main reasons for treatment in hospital organizations are diseases of the circulatory system, neoplasms, diseases of the digestive system, respiratory system, eye and adnexa, etc. The average duration of stay on the bed of patients older than working age in hospitals were analysed accordingly classes of diseases. Over 5 years the indicator decreased by 1,3 days (from 14,2 to 12,9 days).
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Hospitalização/estatística & dados numéricos , Fatores Etários , Idoso , Feminino , Mortalidade Hospitalar , Humanos , Masculino , Pessoa de Meia-Idade , Federação Russa/epidemiologiaRESUMO
STUDY DESIGN: We performed transcranial magnetic stimulation (TMS) in children with sequelae of acute transverse myelitis. Single-pulse TMS protocol was implemented. Twenty controls and 24 patients with myelitis were enrolled. TMS was performed on 12-24 day after the onset of the first symptoms, average on 16th day. OBJECTIVES: The objective of our study was to evaluate motor pathways in children with viral myelitis using the TMS technique. SETTING: All investigations were performed in Scientific Research Institute for Children's Infections, Russia. RESULTS: There were statistically significant differences between the groups on central motor conduction time and motor evoked potential (MEPs) amplitudes. MEP thresholds were elevated, and MEP shape was abnormal in 96% of patients with myelitis (n=23). Three neurophysiologic patterns were observed: the presence of both cortical and spinal MEP, the absence of cortical MEP with the spinal MEP present and the total absence of both cortical and spinal MEP. Last finding was associated with paraplegia, resistant to any sort of treatment. CONCLUSION: Thus, myelitis in 96% of the cases causes neurophysiologic changes, which may be detected by TMS; the method may be used as a predicting tool.
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Potencial Evocado Motor/fisiologia , Mielite Transversa/diagnóstico , Mielite Transversa/fisiopatologia , Recuperação de Função Fisiológica/fisiologia , Estimulação Magnética Transcraniana/métodos , Adolescente , Área Sob a Curva , Criança , Feminino , Humanos , Masculino , Prognóstico , Curva ROCRESUMO
The requirements for quality control (QC) in diagnostic radiology were introduced in Bulgarian legislation in 2005. Hospital medical physicists and several private medical physics groups provide QC services to radiology departments. The aim of this study was to analyse data from QC tests in mammography and to investigate the impact of QC introduction on mammography practice in the country. The study was coordinated by the National Centre of Radiobiology and Radiation Protection. All medical physics services were requested to fill in standardised forms with information about most important parameters routinely measured during QC. All QC service providers responded. Results demonstrated significant improvement of practice since the introduction of QC, with reduction of established deviations from 65 % during the first year to 7 % in the last year. The systems that do not meet the acceptability criteria were suspended from use. Performance of automatic exposure control and digital detectors are not regularly tested because of the absence of requirements in the legislation. The need of updated guidance and training of medical physicists to reflect the change in technology was demonstrated.
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Mama/patologia , Mamografia/métodos , Mamografia/normas , Bulgária , Feminino , Humanos , Controle de Qualidade , Doses de Radiação , Proteção Radiológica/métodos , Radiologia/métodos , Estudos Retrospectivos , Raios XRESUMO
Treatment of multifocal and extended tracheal stenosis is associated with considerable difficulties in comparison with local lesions. Resection with restoration of respiratory lumen by using of direct intertracheal anastomosis substantially entered into common clinical practice. But these interventions in patients with two-level lesion are performed rarely. Among 900 operated patients with cicatrical tracheal stenosis resection of two tracheal segments with forming of anastomoses was performed only in 5 patients. We presented an experience of single-stage resections of different segments of respiratory tract for nonneoplastic cicatrical stenosis. Indications and contraindications are defined. Technical features of resection are discussed. Our data show that such operations are possible and safe. All patients recovered. Their breath was completely restored. Risk of postoperative complications after similar operations is not higher than after one-level resection. But at present time these techniques may be used by specialists and institutions with serious experience in tracheal surgery.
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Anastomose Cirúrgica , Complicações Pós-Operatórias/prevenção & controle , Estenose Traqueal , Traqueotomia , Adulto , Anastomose Cirúrgica/efeitos adversos , Anastomose Cirúrgica/métodos , Cicatriz/complicações , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Respiração Artificial/efeitos adversos , Índice de Gravidade de Doença , Estenose Traqueal/etiologia , Estenose Traqueal/fisiopatologia , Estenose Traqueal/cirurgia , Traqueotomia/efeitos adversos , Traqueotomia/métodos , Resultado do TratamentoRESUMO
We present a medical history of a 30-year old male patient with fatal ischemic stroke, resulting from the right internal carotid artery (ICA) dissection provoked by repeated head tilts and verified by magnetic resonance imaging and pathomorphological examination. At admission, the high level of creatine phosphokinase (5284 un/ml, normal level<171) in the blood was found, the coagulation parameters were normal. Autopsy revealed intramural hematoma (IMH), which was located between the media and adventitia of the arterial wall, began at 3 cm above the common carotid artery bifurcation and extended to the base of the skull. The lumen of the ICA at the level of the IMG and intracranial parts as well as of the middle cerebral artery was occluded by the thrombus. The histological examination of the right ICA wall found splitting, thinning, fragmentation, disrupters of internal elastic membrane, severe media fibrosis, myocyte necrosis at the site of the dissection with the surrounding leukocyte infiltration, as well as lymphocytic infiltrates, clusters of eosinophils in adventitia. Similar changes, except myocyte necrosis, were also found in intact (non-dissected) brain supplying arteries. In general, they were similar to those in fibromuscular dysplasia (FMD). Histochemical and electron microscopic studies of skeletal muscles showed signs of mitochondrial cytopathy. The authors discuss the relationship between the dissection, FMD and mitochondrial pathology.
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Citrin deficiency is an autosomal recessive disorder caused by mutations in the SLC25A13 gene and has three phenotypes: neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in newborns, failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD) in older children, and recurrent hyperammonemia with neuropsychiatric symptoms in citrullinemia type II (CTLN2) in adults. NICCD presents in the first few weeks of life with cholestatic hepatitis syndrome, multiple aminoacidemia and hypergalactosemia. To date almost all reported patients were from East Asia and only few cases from Caucasian origin have been described. We report the first Bulgarian case of NICCD. Mutation screening of the SLC25A13 gene revealed the compound heterozygous mutations c.1081C>T (p.R361*) and c.74C>A (p. A25E) which confirmed the diagnosis of NICCD. The nonsense mutation c.1081C>T (p.R361*) is novel.
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Proteínas de Ligação ao Cálcio/deficiência , Citrulinemia/genética , Análise Mutacional de DNA , Proteínas de Transporte da Membrana Mitocondrial/genética , Transportadores de Ânions Orgânicos/deficiência , Arginina/sangue , Bulgária , Citrulina/sangue , Citrulinemia/sangue , Citrulinemia/diagnóstico , Citrulinemia/dietoterapia , Feminino , Seguimentos , Galactose/administração & dosagem , Triagem de Portadores Genéticos , Humanos , Recém-Nascido , Masculino , Metionina/sangue , Mutação de Sentido Incorreto/genética , Fenótipo , Gravidez , População Branca/genéticaRESUMO
AIM: To characterize the clinical and hematological variability of acute myeloid leukemia (AML) with t(8;21) and to identify the signs associated with the likelihood of its relapse. SUBJECTS AND METHODS: The results of examining 44 patients aged 11 to 70 years were analyzed; the efficiency of treatment was evaluated in 36. Their karyotypes were studied using the standard GTG method. Polymerase chain reaction (PCR) was employed to assess the mutational status of the FLT3, NPM1, NRAS and c-Kit genes. Qualitative PCR was used to reveal the chimeric transcript RUNX1/RUNX1T1. RESULTS: The M2 variant was verified using the French-American-British classification in 82% of cases. One patient was diagnosed with secondary AML. Additional chromosomal aberrations were found in 50% of the patients. The most common breakages were loss of one of the sex chromosomes (34.1%) and damage of chromosome 9 (16.6%). Gene mutations were detected in single cases. Following 2 7+3 induction chemotherapy (CT) cycles, complete remission (CR) was achieved in 97% of cases (3 patients with cytopenia died). Eight (25%) patients developed a relapse mainly within the first 7 months after achieving CR. The characteristic signs of relapse cases were the inefficiency of the first cycle of remission induction (RI), the absence of high-dose consolidation, damage of chromosome 9, D816V mutation in exone 17 of the c-Kit gene. Antirecurrent CT was ineffective in 5 patients. The median overall survival (OS) in patients with early recurrence was 10 months. That in the patients who were recorded to have CR was not achieved; 5-year OS was 57.8%. Chromosome 9 aberration was ascertained to have a negative impact on OS parameters (p=0.003). CONCLUSION: Patients with AML with t(8;21) is a group heterogeneous with respect to age, the morphological nature of blast cells, the pattern of the disease, the presence and type of additional chromosomal aberrations, mutations in individual genes, and clinical course. Those who are unresponsive to the first RI cycle and have additional chromosome 9 damages should be regarded as potential candidates for allogeneic hematopoietic stem cell transplantation.