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1.
Khirurgiia (Mosk) ; (11): 34-46, 2023.
Article in Russian | MEDLINE | ID: mdl-38010016

ABSTRACT

OBJECTIVE: To analyze primary results of living related liver transplantation in the Republic of Uzbekistan. MATERIAL AND METHODS: There were 44 living related transplantations of the right liver lobe in patients with decompensated liver failure between February 2018 and February 2023. RESULTS: Uneventful postoperative period was observed in 17 (38.6%) recipients. Other 27 patients (61.4%) developed 47 various postoperative complications (1-3 events per a patient). Of these, 8 (18.2%) patients required early postoperative re-laparotomy. Among 44 patients, 9 (20.5%) ones died in early postoperative period, and one patient died in long-term period (3 years after transplantation) from chronic rejection under refusal to take immunosuppressive drugs. Early satisfactory results were obtained in 79.5% of patients, long-term favorable outcomes - in 77.3% of cases. CONCLUSION: Engraftment rates and survival of recipients to a large extent depend on surgical strategy, baseline disease and clinical severity. The so-called "center effect" is essential at initial stages of implementation of the program.


Subject(s)
Liver Failure , Liver Transplantation , Humans , Liver Transplantation/adverse effects , Liver Transplantation/methods , Uzbekistan , Living Donors , Immunosuppressive Agents , Postoperative Complications/epidemiology , Postoperative Complications/etiology , Postoperative Complications/prevention & control , Retrospective Studies , Treatment Outcome
2.
Khirurgiia (Mosk) ; (1): 56-60, 2023.
Article in Russian | MEDLINE | ID: mdl-36583494

ABSTRACT

OBJECTIVE: To evaluate potential predictors of 1-month postoperative complications after primary ventral hernia repair using database of the 1st Clinic of the Samarkand State Medical University. MATERIAL AND METHODS: A cohort study included 348 patients who underwent ventral hernia surgery in the 1st Clinic of the Samarkand State Medical University between January 1, 2014 and January 1, 2021. We performed logistic regression analysis to identify risk factors of postoperative complications. RESULTS: More than one complication within 1-month after surgery developed in 87 (25%) patients. Those factors associated with complications in univariate analysis (p<0.05) and clinically important factors were included in multivariate analysis. In multivariate analysis, age, body mass index, hypertension, hernia size, hospital-stay and surgery time were independent risk factors. CONCLUSION: Age, BMI, hypertension, anamnesis and size of hernia, as well as surgery time correlated with postoperative complications. Therefore, these factors should be used in preoperative risk assessment.


Subject(s)
Hernia, Ventral , Humans , Cohort Studies , Hernia, Ventral/diagnosis , Hernia, Ventral/surgery , Postoperative Complications/diagnosis , Postoperative Complications/epidemiology , Postoperative Complications/etiology , Risk Factors , Herniorrhaphy/adverse effects , Retrospective Studies
3.
Arch Osteoporos ; 15(1): 119, 2020 07 29.
Article in English | MEDLINE | ID: mdl-32728952

ABSTRACT

A prospective population-based survey in a region of the Republic of Uzbekistan determined the incidence of fractures at the hip. The hip fracture rates were used to create a FRAX® model to facilitate fracture risk assessment in Uzbekistan. OBJECTIVE: This paper describes the epidemiology of hip fracture in the Republic of Uzbekistan that was used to develop a country-specific FRAX® tool for fracture prediction. METHODS: During a 1-year (2016/17) prospective population-based survey in the Pap district of the Republic of Uzbekistan, hip fractures were prospectively identified from hospital registers, trauma centres and primary care and community sources. Age- and sex-specific incidence of hip fracture and national mortality rates were incorporated into a FRAX model for Uzbekistan. Fracture probabilities were compared with those from neighbouring Kazakhstan and Kyrgystan. RESULTS: Approximately 41% of hip fracture cases did not come to medical attention, and two thirds of patients overall were not admitted to hospital. The incidence of hip fracture applied nationally suggested that the estimated number of hip fractures nationwide in persons over the age of 50 years for 2015 was 16,764 and is predicted to increase more than three-fold to 60,272 in 2050. FRAX-based probabilities were higher in Uzbekistan than Kazakhstan or Kyrgystan. CONCLUSION: The FRAX model should enhance accuracy of determining fracture probability among the Uzbek population and help guide decisions about treatment.


Subject(s)
Hip Fractures , Adult , Aged , Aged, 80 and over , Bone Density , Female , Hip Fractures/epidemiology , Humans , Kazakhstan , Male , Middle Aged , Osteoporotic Fractures/epidemiology , Prospective Studies , Risk Assessment , Risk Factors , Uzbekistan/epidemiology
4.
Int J Tuberc Lung Dis ; 21(10): 1161-1168, 2017 10 01.
Article in English | MEDLINE | ID: mdl-28911362

ABSTRACT

SETTING: In 2009, the World Health Organization (WHO) conducted a survey of the quality of four anti-tuberculosis drugs in the former Soviet Union countries. Kazakhstan had the highest proportion of substandard drugs. OBJECTIVE: To assess the quality of anti-tuberculosis drugs used in Kazakhstan in 2014. DESIGN: Fourteen anti-tuberculosis drugs from the Almaty Interdistrict TB Dispensary were randomly selected and screened for quality using Global Pharma Health Fund Minilab™ testing. First, the product and packaging were physically inspected to determine whether tablets/capsules were intact (i.e., whether they contained the full amount of the drug, and whether the packaging was genuine). Second, the tablets/capsules were dissolved in water to test whether they could be adequately absorbed by the body. Finally, semi-quantitive analyses were undertaken using thin-layer chromatography to verify the presence and concentration of the active pharmaceutical ingredient and to detect impurities. RESULTS: We discovered no counterfeit medicines. However, 163 (19%) of the 854 anti-tuberculosis drugs sampled failed at least one of the three tests. These samples were found among 24/50 (48%) batches of 14 anti-tuberculosis drugs. CONCLUSION: Our study identified a high proportion of poor-quality first- and second-line anti-tuberculosis drugs. Use of these medicines may lead to treatment failure and the development of drug resistance. Confirmatory testing should be performed to determine if they should be removed from the market.


Subject(s)
Antitubercular Agents , Chromatography, Thin Layer , Quality Control , Antitubercular Agents/administration & dosage , Antitubercular Agents/analysis , Antitubercular Agents/standards , Capsules , Chromatography, Thin Layer/methods , Drug Liberation , Kazakhstan , Tablets
5.
Tissue Antigens ; 83(2): 106-12, 2014 Feb.
Article in English | MEDLINE | ID: mdl-24397488

ABSTRACT

The human leukocyte antigen (HLA) system has a major role in the regulation of the immune response as it is involved in the defense against pathogens. Some studies have reported that HLA class II genes play a strong role in severe cases of pulmonary tuberculosis (PTB) in several populations. Thus the aim of the study was to compare the HLA-class II alleles of patients with drug resistant tuberculosis with those of healthy controls from the same ethnic group in Kazakhstan. The aim of the present study was to evaluate the correlation of HLA-class II alleles by patients with drug resistant tuberculosis and the healthy controls of the same ethnic group in Kazakhstan. The HLA-class II alleles of 76 patients with tuberculosis (TB) and 157 healthy volunteers were investigated using sequence-based typing (SBT)-method. HLA-DQA1*03:02 HLA-DRB1*08:01 and DRB1*08:03 occurred more frequently (P = 0.05) in patients with drug resistant tuberculosis than in controls. We observed a possible association between certain HLA alleles and TB that are specific for the Kazakh population. Further studies are needed to confirm our findings using a larger number of patients with drug resistant tuberculosis.


Subject(s)
Genetic Predisposition to Disease , HLA-DQ alpha-Chains/genetics , HLA-DRB1 Chains/genetics , Haplotypes , Tuberculosis, Multidrug-Resistant/genetics , Tuberculosis, Pulmonary/genetics , Adult , Antitubercular Agents/therapeutic use , Case-Control Studies , Female , Gene Frequency , HLA-DQ alpha-Chains/classification , HLA-DQ alpha-Chains/immunology , HLA-DRB1 Chains/classification , HLA-DRB1 Chains/immunology , Histocompatibility Testing , Humans , Kazakhstan , Male , Middle Aged , Mycobacterium tuberculosis/drug effects , Mycobacterium tuberculosis/immunology , Tuberculosis, Multidrug-Resistant/drug therapy , Tuberculosis, Multidrug-Resistant/immunology , Tuberculosis, Multidrug-Resistant/microbiology , Tuberculosis, Pulmonary/drug therapy , Tuberculosis, Pulmonary/immunology , Tuberculosis, Pulmonary/microbiology
6.
Int J Tuberc Lung Dis ; 17(4): 526-31, 2013 Apr.
Article in English | MEDLINE | ID: mdl-23485387

ABSTRACT

SETTING: Kazakhstan is a country with a low HIV/AIDS (human immunodeficiency virus/acquired immune-deficiency syndrome) burden, but a high prevalence of multidrug-resistant tuberculosis (MDR-TB). METHODS: We describe the epidemiology of multidrug resistance and HIV among TB patients, using the 2007-2011 national electronic TB register. RESULTS: HIV test results were available for 97.2% of TB patients. HIV prevalence among TB patients increased from 0.6% in 2007 to 1.5% in 2011. Overall, 41.6% of patients had a positive smear at diagnosis, 38.6% a positive culture and 51.7% either a positive smear or culture. Drug susceptibility testing (DST) results were available for 92.7% of culture-positive cases. Socio-economic factors independently associated with both HIV and MDR-TB were urban residency, drug use, homelessness and a history of incarceration. In adjusted analysis, HIV positivity was not associated with MDR-TB (OR 1.0, 95%CI 0.86-1.2). Overall, among TB patients with DST and HIV test results available, 65.0% were positive for neither HIV nor MDR-TB, 33.5% only for MDR-TB, 0.9% only for HIV and 0.6% for both HIV and MDR-TB. Among injection drug users, 12.5% were positive for HIV and MDR-TB. CONCLUSION: We showed increasing HIV prevalence among TB patients in Kazakhstan. HIV was not an independent risk factor for MDR-TB, but risk factors were largely overlapping and we did identify subgroups at particular risk of HIV-MDR-TB co-infection, notably drug users. Enhanced efforts are necessary to provide care to these socially vulnerable populations.


Subject(s)
Coinfection , HIV Infections/epidemiology , Tuberculosis, Multidrug-Resistant/epidemiology , Tuberculosis, Pulmonary/epidemiology , Adolescent , Adult , Anti-HIV Agents/therapeutic use , Antitubercular Agents/therapeutic use , Child , Child, Preschool , Drug Users/statistics & numerical data , Female , HIV Infections/diagnosis , HIV Infections/drug therapy , Humans , Infant , Infant, Newborn , Kazakhstan/epidemiology , Logistic Models , Male , Microbial Sensitivity Tests , Middle Aged , Multivariate Analysis , Mycobacterium tuberculosis/isolation & purification , Odds Ratio , Predictive Value of Tests , Prevalence , Registries , Risk Assessment , Risk Factors , Sputum/microbiology , Substance-Related Disorders/epidemiology , Time Factors , Tuberculosis, Multidrug-Resistant/diagnosis , Tuberculosis, Multidrug-Resistant/drug therapy , Tuberculosis, Multidrug-Resistant/microbiology , Tuberculosis, Pulmonary/diagnosis , Tuberculosis, Pulmonary/drug therapy , Tuberculosis, Pulmonary/microbiology , Vulnerable Populations/statistics & numerical data , Young Adult
7.
Int J Tuberc Lung Dis ; 14(12): 1582-8, 2010 Dec.
Article in English | MEDLINE | ID: mdl-21144244

ABSTRACT

SETTING: Kazakhstan began implementing the DOTS strategy for tuberculosis (TB) in 1998. OBJECTIVE: Data were analyzed 1) to determine if changes in TB mortality rate (MR) and case fatality rate (CFR) in Kazakhstan for 1998-2003 differed from those of Uzbekistan and four adjacent Russian Federation (RF) oblasts that had not yet implemented DOTS, and 2) to estimate the number of deaths averted in Kazakhstan as a result of DOTS. DESIGN: Observed MRs were calculated, and predicted MRs for Kazakhstan were approximated by linear regression based on average slope of MRs from 1998 through 2003 in adjacent non-DOTS-implementing territories. Deaths averted were calculated by comparing predicted MRs to actual MRs by converting rate differences to numbers of deaths. RESULTS: TB MRs in Kazakhstan decreased markedly, but remained stable or increased in the neighboring territories. CFRs decreased markedly in Kazakhstan and marginally in Uzbekistan, and increased in the neighboring RF oblasts. From 1998 to 2004, DOTS appears to have helped avert approximately 17,800 deaths in Kazakhstan. CONCLUSION: DOTS has contributed markedly to a decrease in TB mortality in Kazakhstan. In settings where mortality data are relatively complete, deaths averted can be another indicator of DOTS effectiveness.


Subject(s)
Antitubercular Agents/therapeutic use , Directly Observed Therapy/methods , Tuberculosis/drug therapy , Antitubercular Agents/administration & dosage , Humans , Kazakhstan/epidemiology , Linear Models , Tuberculosis/mortality
8.
Biomed Khim ; 54(1): 58-77, 2008.
Article in Russian | MEDLINE | ID: mdl-18421912

ABSTRACT

The cytoskeleton elements, especially the system of the microtubules, are responsible for production of cell backbone system, creation the global spatial ordered organization for efficient transport processes. Microtubules are involved into transportation of mitochondria, peroxisomes, microsomes, lyzosomes, Golgi apparatus, vesicular structures, some enzymes, adhesion molecules and, possibly, O2-depoting compounds. During disorganization of microtubules, mitochondria (principal consumers of intracellular O2), lose uninterrupted "address" delivery oxidizing substrates and O2. This may be one of important factors underlying mitochondrial dysfunctions accompanied by a rise and/or intensification of cells hyperoxia and oxidative stress. These impairments are obviously responsible for oxygen-peroxide effects in aging, age-related pathologies, carcinogenesis and apoptosis. The agents, both stabilizing and disorganizating microtubules appear to be apoptogenic for the tumors cells.


Subject(s)
Aging/metabolism , Apoptosis , Cytoskeleton/metabolism , Organelles/metabolism , Oxygen/metabolism , Peroxides/metabolism , Aging/pathology , Animals , Biological Transport , Cytoskeleton/pathology , Humans , Neoplasms/metabolism , Neoplasms/pathology , Organelles/pathology , Oxidation-Reduction , Oxidative Stress
9.
Med Hypotheses ; 69(1): 186-94, 2007.
Article in English | MEDLINE | ID: mdl-17207937

ABSTRACT

The biological evolution has resulted in adaptation of both unicellular and multicellular organisms to negative effect of excessive O2 in reply to gradual increase of free oxygen (O2) contents in the earth atmosphere. This adaptation has led to formation of various antioxidant systems in the organism. Such system within the cell has hierarchic structure and is represented by at least than three levels of protection: antioxygene, antiradical and antiperoxide. The first and most effective antioxidant level is represented as mitochondrial respiration able to perform several functions. One of these functions is antioxygene since the very the mitochondria's capability to be a main O2 consumer in the cell provides for low but sufficient for respiration and energy supply levels of O2 partial pressure and dependent concentrations of active O2 forms. The latters, being signal molecules at certain values, modify regular and synthetic processes in the cells either directly or indirectly. This is the possibility for mitochondria to more extensively affect the intracellular processes than simply produce ATP. In case of defective of the cell first protection line the hyperoxia starts due to poor utilization of the incoming O2. Change in mitochondria's "capacity" (quantity, size and maturity level of mitochondria) anyway occurring in the cells are an efficient way of regulation of the oxy-peroxide condition (oxidative stress) and related signal channels. The relationship between changes in the condition of cells, i.e. from their normal state to different pathologic forms, and growing disbalance Delta(PO-AO) between its pro-oxygen (PO) and anti-oxygen (AO) components has been assumed. It is expected that during the evolution the cell could have supposedly acquired a sequence of "specialized" Delta(PO-AO) disbalances. Each sequence needs to implement a certain set of biochemical processes. The probability of Delta(PO-AO) disbalance gradation with specification of their value ranges has been determined. These ranges identify or impact certain cell state, namely proliferation of normal cell (oxidative mitogenesis), ageing, A1 apoptosis, carcinogenesis, A2 apoptosis, and oxidative cytolysis. The cited assumption allows us to: (1) explain reverse dependence of cell proliferation due to the level of their differentiation, increase in the amount and activity of mitochondria as an indispensable condition for the disbalance shift towards differentiation, (2) bring up the idea that regress of the cells, and in particular tumour cells, directly results from the Delta(PO-AO) disbalance decrease to certain levels under the influence of reverse inductors, (3) explain relatively easy and frequent embryonic and stem cells malignancy, and also their reversal normalization. These phenomena occur due to small number and/or size of mitochondria in the designated cells. To verify the above mentioned hypotheses it is primarily necessary to be able to stimulate and slow down the mitochondria biogenesis in the embryonic, stem, ageing, cancer and other cells.


Subject(s)
Mitochondria/metabolism , Models, Biological , Neoplasms/metabolism , Oxidative Stress , Oxygen Consumption , Oxygen/metabolism , Animals , Humans
10.
Article in Russian | MEDLINE | ID: mdl-17004379

ABSTRACT

New system of registration of primary morbidity was developed for the purpose of elimination of systemic error factors and decrease of human element input. The following principles are included: simplification of registration rules; more exact registration of acute conditions; unified rules of registration for out-patient and in-patient medical institutions; unified form of information fields in medical documentation for morbidity registration in out-patient and in-patient medical institutions; succession in basic parameters, indicators and terms of medical statistics in currently in force and modernized systems. New system includes following information fields: "stage of diagnostics", "urgency of condition"; "ICD-10 code", "diagnosis", "life identification", "calendar year identification". All fields, except field "diagnosis", are formalized and for them (except field "ICD-10 code") corresponding codings are developed. Rules for filling information fields, algorithms of validity control of primary information and receiving such indicators as first time identified morbidity", "chronic morbidity", "emergency (acute) morbidity", "chronic sickliness/morbidity identified for the first time in previous years", "chronic sickliness" are developed. This system is implemented experimentally in medical institutions of primary and secondary levels of health care system in Yakka-Saraysk district of City of Tashkent.


Subject(s)
Medical Informatics/organization & administration , Morbidity/trends , Registries , Humans , Urban Population , Uzbekistan
11.
Endocr Relat Cancer ; 11(2): 357-63, 2004 Jun.
Article in English | MEDLINE | ID: mdl-15163310

ABSTRACT

Calcitonin (CT) is a sensitive marker for medullary thyroid carcinoma. Normalization of early postoperative CT level is a favorable prognostic factor. The aim of this study was to establish the prognostic value of CT-level kinetics by preoperative tumor stage and postoperative elimination rate. Blood serum from 22 medullary thyroid carcinoma (MTC) patients without remote metastases was assayed. A commercial RIA DSL-1200 test was used to assay CT levels. Basal CT< or =42 pg/ml and stimulated CT< or =120 pg/ml were considered normal. The patients were divided into three groups according to the intensity of the postoperative CT level reduction in blood serum. Group 1 comprised patients who showed basal CT normalization within the first 2-3 days after surgery. Group 2 included those patients with slow (from 2 to 4 weeks) CT-level normalization. Group 3 included patients with CT levels that reduced within 14 days, but subsequently increased. Preoperative basal CT varies from 216 to 1654 pg/ml and depends on tumor-node-metastasis (TNM) stage. In seven patients, no basal CT decrease to normal values was observed; in five of these patients, disease recurrence was detected 2-6 months after surgery. In the group with slowly decreasing CT levels, no strong correlation between preoperative CT level and the postoperative time to normalization of basal and peak CT could be established; this may be due to the small number of patients. Our study showed that preoperative CT level depended on the disease stage. Postoperative CT elimination rate is independent of preoperative CT level. Postoperative increase in the basal or stimulated CT level is an unfavorable prognostic factor, implying disease recurrence.


Subject(s)
Calcitonin/blood , Carcinoma, Medullary/blood , Thyroid Neoplasms/blood , Carcinoma, Medullary/surgery , Humans , Immunoradiometric Assay , Kinetics , Middle Aged , Neoplasm Staging , Postoperative Period , Preoperative Care , Prognosis , Thyroid Neoplasms/surgery , Time Factors
13.
Eksp Klin Farmakol ; 65(5): 42-5, 2002.
Article in Russian | MEDLINE | ID: mdl-12596514

ABSTRACT

The effect of the antihistaminic drug zaditen on the activity of pancreatic digestive enzymes was studied in white rats under sensitization and anaphylactic shock conditions. The sensitization and anaphylaxis are accompanied by significant changes in the spectrum and activity of pancreatic enzymes (alpha amylase, protease complex, lipase), leading to disorders in the digestion and assimilation of proteins, fats, and carbohydrates. Zaditen reduced negative changes in the enzyme secretion system of pancreas under conditions of this pathology.


Subject(s)
Anaphylaxis/enzymology , Histamine H1 Antagonists/pharmacology , Immunization , Ketotifen/pharmacology , Pancreas/enzymology , alpha-Amylases/metabolism , Anaphylaxis/prevention & control , Animals , Enzyme Activation , Female , Hydrolysis , Immunization/adverse effects , Male , Rats , alpha-Amylases/antagonists & inhibitors
14.
Urologiia ; (6): 8-11, 2002.
Article in Russian | MEDLINE | ID: mdl-12577570

ABSTRACT

Nephrolithiasis (NL) is a frequent complication of hyperparathyroidism (HPT). Such patients account for 5% of those with nephrolithogenesis. The study included 89 HPT patients (age 34.8 +/- 1.9 years) with NL, 22 patients (age 38 +/- 1.4 years) with NL and 10 healthy controls (age 30 +/- 1.2 years). Hypercalciemia was seen in 27-20% of patients with HPT and NL, 9-10% of patients with nephrolithiasis. Evaluation of parathyroid hormone (PTH) levels in the blood of the examinees showed its high diagnostic value: in 89% of HPT patients this level was high. It was also elevated in 10% of NL patients. cAMP in HPT and NL was elevated in 68.48 and 12% of patients, respectively, serum concentration of Ca2+ was high in 81.4 and 24.5%, Ca load test was positive in 80.9 and 10% of the patients, respectively. It is important for diagnosis that in HPT bone mass is low.


Subject(s)
Hyperparathyroidism/diagnosis , Kidney Calculi/etiology , Adolescent , Adult , Aged , Bone Density , Calcium/blood , Calcium/urine , Cyclic AMP/blood , Data Interpretation, Statistical , Female , Humans , Hypercalcemia/diagnosis , Hyperparathyroidism/blood , Hyperparathyroidism/complications , Hyperparathyroidism/diagnostic imaging , Hyperparathyroidism/urine , Kidney Calculi/blood , Kidney Calculi/diagnostic imaging , Kidney Calculi/urine , Male , Osteoporosis/diagnosis , Osteoporosis/diagnostic imaging , Parathyroid Hormone/blood , Phosphorus/blood , Phosphorus/urine , Radiography , Ultrasonography
15.
Eksp Klin Farmakol ; 64(3): 48-9, 2001.
Article in Russian | MEDLINE | ID: mdl-11558439

ABSTRACT

The effect of the antihistaminic drug phencarol on the activity of pancreatic digestive enzymes was studied in white rats with induced food anaphylaxis. The anaphylaxis is accompanied by significant changes in the activity of digestive enzymes (a complex of protease, lipase, and alpha-amylase), leading to disorders in the splitting and assimilation of proteins, fats, and carbohydrates. Phencarol reduced negative changes in the digestive enzyme secretion system of pancreas.


Subject(s)
Anaphylaxis/drug therapy , Benzhydryl Compounds/therapeutic use , Food Hypersensitivity/drug therapy , Histamine H1 Antagonists/therapeutic use , Pancreas/enzymology , Anaphylaxis/enzymology , Anaphylaxis/etiology , Animals , Digestion , Female , Food Hypersensitivity/complications , Food Hypersensitivity/enzymology , Male , Rats
16.
Eur J Hum Genet ; 9(8): 646-50, 2001 Aug.
Article in English | MEDLINE | ID: mdl-11528513

ABSTRACT

Charcot-Marie-Tooth disease (CMT) constitutes a genetically heterogeneous group of inherited motor and sensory peripheral neuropathies. The axonal type of CMT is designated CMT type 2 (CMT2). Four loci for autosomal dominant CMT2 have been reported so far. Only in CMT2E, linked to chromosome 8p21, disease-causing mutations in the gene for neurofilament light chain (NEFL) were identified. In this study we report a multigenerational Russian family with autosomal dominant CMT2 and assign the locus to chromosome 7q11-q21. The CMT2 neuropathy in this family represents a novel genetic entity designated CMT2F.


Subject(s)
Charcot-Marie-Tooth Disease/genetics , Chromosome Mapping , Chromosomes, Human, Pair 7/genetics , Genes, Dominant/genetics , Adolescent , Adult , Child , Child, Preschool , Female , Genetic Markers/genetics , Humans , Infant , Infant, Newborn , Male , Pedigree
17.
Hum Mutat ; 15(4): 340-7, 2000.
Article in English | MEDLINE | ID: mdl-10737979

ABSTRACT

Charcot-Marie-Tooth disease (CMT) and related inherited peripheral neuropathies, including Dejerine-Sottas syndrome, congenital hypomyelination, and hereditary neuropathy with liability to pressure palsies (HNPP), are caused by mutations in three myelin genes: PMP22, MPZ and Cx32 (GJB1). The most common mutations are the 1.5 Mb CMT1A tandem duplication on chromosome 17p11.2-p12 in CMT1 patients and the reciprocal 1.5 Mb deletion in HNPP patients. We performed a mutation screening in 174 unrelated CMT patients and three HNPP families of Russian origin. The unrelated CMT patients included 108 clinically and electrophysiologically diagnosed CMT1 cases, 32 CMT2 cases, and 34 cases with unspecified CMT. Fifty-nine CMT1A duplications were found, of which 58 belonged to the CMT1 patient group. We found twelve distinct mutations in Cx32, six mutations in MPZ, and two mutations in PMP22. Of these respectively, eight, five, and two lead to a CMT1 phenotype. Eight mutations (Cx32: Ile20Asn/Gly21Ser, Met34Lys, Leu90Val, and Phe193Leu; MPZ: Asp134Gly, Lys138Asn, and Thr139Asn; PMP22: ValSer25-26del) were not reported previously. Phenotype-genotype correlations were based on nerve conduction velocity studies and mutation type.


Subject(s)
Charcot-Marie-Tooth Disease/genetics , Connexins/genetics , Myelin P0 Protein/genetics , Myelin Proteins/genetics , Adult , DNA Mutational Analysis , Female , Gene Duplication , Genetic Testing , Humans , Male , Gap Junction beta-1 Protein
18.
Probl Tuberk ; (4): 31-3, 1997.
Article in Russian | MEDLINE | ID: mdl-9333813

ABSTRACT

The author analyzed the outcomes of treatment of 88 patients with various types of pulmonary tuberculosis, of them 44 (Group 1) were diagnosed as having tuberculosis of the large bronchi (TLB) by bronchoscopy and verified by cytological of morphological studies of biopsy specimens and the other 44 (Group 2) had intact bronchi. TLB occurred in all age groups and in various types of the pulmonary tuberculosis. This complication occurred at the patients" late referral and in the presence of other complications and concomitant diseases. The patients with TLB were found to have slow rates of abacillation and decay cavity closure in the lung, which required more prolonged treatment.


Subject(s)
Bronchial Diseases/complications , Tuberculosis, Pulmonary/complications , Adolescent , Adult , Aged , Antitubercular Agents/therapeutic use , Biopsy , Bronchi/microbiology , Bronchial Diseases/diagnosis , Bronchial Diseases/drug therapy , Bronchoscopy , Female , Humans , Male , Middle Aged , Tuberculosis, Pulmonary/diagnosis , Tuberculosis, Pulmonary/drug therapy
19.
Probl Tuberk ; (3): 32-4, 1997.
Article in Russian | MEDLINE | ID: mdl-9265167

ABSTRACT

Tuberculosis of the large bronchi (TLB) was diagnosed by rigid bronchoscopy (RBS) in 9.4% and by fibrobronchoscopy (FBS) in 18.3% of patients. Such great differences are attributable to the extension of a visualization area during FBS than during RBS. Analyzing the specimens obtained at bronchoalveolar lavage and other types of biopsy of TLB areas cytologically and histologically confirmed the visual picture in 63.4% of cases.


Subject(s)
Bronchi/pathology , Bronchial Diseases/diagnosis , Bronchoscopy/methods , Tuberculosis, Pulmonary/diagnosis , Adolescent , Adult , Aged , Biopsy , Bronchi/microbiology , Bronchial Diseases/microbiology , Bronchoalveolar Lavage Fluid/cytology , Bronchoalveolar Lavage Fluid/microbiology , Female , Humans , Male , Middle Aged , Tuberculosis, Pulmonary/microbiology
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