1.Molecular Genetics of Autosomal-Recessive Demyelinating Charcotmarie-Tooth Disease (Review Article)
Bilegtsaikhan Ts ; Gandolgor Ts ; Oyungerel G ; Munjhtuvshin N ; Munkhbat B
MONGOLIAN MEDICAL SCIENCES 2010;151(1):37-42
Charcot-Marie-Tooth disease (CMT) is a clinically and genetically heterogenous group of disorders. Useful classifi cation is still clinical and electrophysiological classifi cation that divides CMT into CMT type 1 - demyelinating form and CMT type 2 - axonal form. An intermediate type is also increasingly being determined. Inheritance can be autosomal dominant, X-linked and autosomal recessive (AR). In this review, we will focus on the clinical and/or electrophysiological findings and molecular genetics of ARCMT1 (CMT4). Ten genes, GDAP1, MTMR2, MTMR13, SH3TC2, NDRG1, EGR2, PRX, CTDP1, FGD4 and SAC3 have been identifi ed in the CMT4A, CMT4B1, CMT4B2, CMT4C, CMT4D, CMT4E, CMT4F, CCFDN, CMT4H and CMT4J types, respectively. In addition, susceptibility locus on chromosome 10q23 has been found for CMT4G disease. Molecular genetics of demyelinating ARCMT are large disabilities of proteins in Schwann cells and their functions (transcriptional factor, protein transport, protein sorting, intra/extra cellular compartments, signal transduction, cell division, and cell differentiation). It has been rising necessary requirements to defi ne clinical and genetic subtypes of the ARCMT1, prevent from disease, give reproductive and genetic counselling, and develop methods for reducing and clear disease risk factor.
2. Histocompatibility testing for kidney graft survival
Sarantsetseg J ; Naranmandakh G ; Bolortuya KH ; Oyungerel TS ; Batbaatar G ; Munkhbat B
Health Laboratory 2015;4(1):23-28
Background:Kidney transplantation has being performed in Mongolia since 2006. However there is currently no published data available on long-term graft and patient survival.Objective:Our aim was to assess the long-term graft and patient survival rate correlation with HLA-A-B-DR matching. Material and Methods:We retrospectively analyzed data from 70 adult kidney transplants performed at our hospital from August 2006 through January 2014. The data was retrospectively collected from patient fles, including characteristics of the recipient and donor, post transplant features and HLA-A-B-DR DNA based typing results. The KaplanMeier method was used to analyze graft and patient survival.Results:The mean patient follow-up period after kidney transplantation was 39,6±25.9 months, and the mean kidney graft follow-up period was 36.6±23.7 months for 70 cases. Overall graft and patient survivals were 52 (74.3%) and 60 (85.7%) respectively in 70 cases. Five-year graft and patient survivals were 23 (67.6%) and 29 (85.3%) respectively in 34 cases. The group with four to six mismatched were found to have a signifcantly lower 3 and 5-year graft and patient survival (71%; 35%); (80%; 40%) compared to 0 to 1 mismatched group (100%) (p=.030; p=.015). Furthermore we analyzed the association of HLA matching, immunosuppressive therapy and long-term graft survival. We selected CNI mono-therapy group for long-term survival analysis and observed a similar pattern. In mono-therapy group, the group with four to six mismatched were found to have a significantly lower 3 and 5-year graft and patient survival (75%; 30%); (65%; 30%) compared to 0 to 1 mismatched group (100%) (p=.037; p=.001).Conclusion:The results showed that graft and patient survival rates were lower compared with results from established centers. Statistically highly signifcant effect of HLA matching on kidney graft and patient survival rates was found in our analysis. Five years after transplantation the graft survival rate of frst adult kidney transplant with 4-6MM was 65-70% lower than that of grafts with 0-1MM. Longitudinal cohort study needed in the future to exhibit an improved transplantation outcome.
3.RESULTS OF DIAGNOSTIC AND OPERATIVE HYSTEROSCOPY WHICH STUDIED IN FIRST MATERNITY HOSPITAL
Enkhbat Ts ; Myagmartseren B ; Batgerel G ; Batnyam B ; Oyungerel Kh ; Unurgargal D ; Munkhzul S
Innovation 2015;9(3):16-19
Trough WHO recommendation hysteroscopy is the golden standart technique of uterine cavity evalution. First Maternity Hospital of Mongolia have been implemented gynecological laparoscopic surgery since 2009, then from 2013 we have started diagnostic and operative hysteroscopy. A hysteroscopy may be done to find the cause of abnormal bleeding or bleeding that occurs after a woman has passed menopause. It also may be done to diagnose infertility. Also a hysteroscopy can be used to remove growths in the uterus, such as fibroids or polyps. We evaluated results of gynecological diagnostic and operative hysteroscopy, which was done in First maternity hospital.We took special questionnaires from 39 women and did prospective analyses.39 patients, who were done hysteroscopy were involved our study from November 2013 to January 2015. 51% of participants were reproductive age women. Under 20 years old participants who underwent diagnostic hysteroscopy due to hyperplasia of endometrium were 3%, they were performed biopsy. From all participants 87,2% performed operative hysteroscopy, 12,8% was diagnostic hysteroscopy. After diagnostic and operative hysteroscopy, 97% of patients had no symptoms, but last 3% of patients had lower abdominal pain. If clarify diagnosis which is approved after diagnostic and operative hysteroscopy 51.3% was displaced IUD, 35.9% was endometrial polyp, 2.6% was hyperplasia endometrium, 10.3% was infertility. Complication was 2.6% through postmenopausal participants if compared with premenopausal women. Diagnostic and operative hysteroscopic procedure has benefits for synehia, septum of uterus, endometrial hyperplasia, abnormal uterine bleeding, submucosal myomectomy. From all participants 87,2% performed operative hysteroscopy, 12,8% was diagnostic hysteroscopy. Hysteroscopy was done when displaced IUD (51.3%), polyp of endometrium (35.9%), hyperplasia of endometrium (2.6%), and infertility (10.3%).Complications after hysteroscopy depends from menopause.
4. The evaluation of immunosuppressive regimens in kidney transplant Mongolian recipients
Sarantsetseg J ; Narmandakh G ; Bolortuya KH ; Oyungerel TS ; Batbaatar G ; Munkhbat B ; Nyamsuren D
Health Laboratory 2015;4(1):8-14
Background:However kidney transplantation has being performed in Mongolia since 2006, because of pre-transplant ensitization, ABO incompatibility, hepatitis B and C virus activation many patients are taken kidney transplantation in abroad. The transplantation centers use own immunosuppressive regimens.Objective:Our aim was to assess the immunosuppressive regimens efficacy and toxicity in kidney transplant Mongolian recipients.Material and Methods:We analyzed data from 96 adult kidney transplant recipients who had taken kidney transplantation in different transplant centers from August 2006 through January 2014. There were 3 kinds of regimens Group I Simulect induction with standard triple /FK506/CyA+MMF/AZA+steroid/, Group II Campath-1H induction with CNI monotherapy and Group III Campath-1H induction with standard triple /FK506/CyA+MMF/AZA+steroid/. We retrospectively collected the post-transplant first two year serum creatinine. The study was performed in 2014. The questionnaire was taken and blood samples collected for determination of tacrolimus through level and for other laboratory tests. The primary end point was the first two years serum creatinine, the secondary end points included rejection episodes, blood through level of tacrolimus and some laboratory findings.Results:The post-transplant first two years serum creatinine levels were significantly different in 3 groups. Group III showed similar results compared to Group I. There was not enough data of biopsy proven acute rejection episodes however group II said more rejections occurred. However participants said that rejection occurred in 15 (15.6%) biopsy was done only 3 (3.1%) cases. Blood through level of tacrolimus was significantly different in three groups. Some laboratory findings showed different between three groups.Conclusion:A regimen of Campath-1H induction with CNI monotherapy (Group II) may be advantageous for short-term renal function and cost effective but there were more rejection complications and increased creatinine. The regimen of Campath-1H induction with standard triple (Group III) may be advantageous for long-term renal function, allograft survival, but there should consider about infection complications and polycythemia. Simulect induction with standard triple could be best choice but transplantations were performed in experienced centers. The study enrolled few cases and cases which were performed at the beginning of transplant program so many things could influence on the result. The study was compared beginner transplant center with experienced centers. Longitudinal cohort study needed in the future.
5. RESULTS OF DIAGNOSTIC AND OPERATIVE HYSTEROSCOPY WHICH STUDIED IN FIRST MATERNITY HOSPITAL
Enkhbat TS ; Myagmartseren B ; Batgerel G ; Batnyam B ; Oyungerel KH ; Unurgargal D ; Munkhzul S
Innovation 2015;9(3):16-19
Trough WHO recommendation hysteroscopy is the golden standart technique of uterine cavity evalution. First Maternity Hospital of Mongolia have been implemented gynecological laparoscopic surgery since 2009, then from 2013 we have started diagnostic and operative hysteroscopy. A hysteroscopy may be done to find the cause of abnormal bleeding or bleeding that occurs after a woman has passed menopause. It also may be done to diagnose infertility. Also a hysteroscopy can be used to remove growths in the uterus, such as fibroids or polyps. We evaluated results of gynecological diagnostic and operative hysteroscopy, which was done in First maternity hospital.We took special questionnaires from 39 women and did prospective analyses.39 patients, who were done hysteroscopy were involved our study from November 2013 to January 2015. 51% of participants were reproductive age women. Under 20 years old participants who underwent diagnostic hysteroscopy due to hyperplasia of endometrium were 3%, they were performed biopsy. From all participants 87,2% performed operative hysteroscopy, 12,8% was diagnostic hysteroscopy. After diagnostic and operative hysteroscopy, 97% of patients had no symptoms, but last 3% of patients had lower abdominal pain. If clarify diagnosis which is approved after diagnostic and operative hysteroscopy 51.3% was displaced IUD, 35.9% was endometrial polyp, 2.6% was hyperplasia endometrium, 10.3% was infertility. Complication was 2.6% through postmenopausal participants if compared with premenopausal women. Diagnostic and operative hysteroscopic procedure has benefits for synehia, septum of uterus, endometrial hyperplasia, abnormal uterine bleeding, submucosal myomectomy. From all participants 87,2% performed operative hysteroscopy, 12,8% was diagnostic hysteroscopy. Hysteroscopy was done when displaced IUD (51.3%), polyp of endometrium (35.9%), hyperplasia of endometrium (2.6%), and infertility (10.3%).Complications after hysteroscopy depends from menopause.
6.About Mongolian blue spot
Bujin E ; Lkhaasuren N ; Batchimeg B ; Tselmen D ; Oyungerel G ; Munkhtuvshin N ; Munkhbat B
Mongolian Medical Sciences 2014;168(2):106-111
Mongolian blue spots are birthmarks that are present at birth and their most common location issacrococcygeal or lumbar area. There are macular and round, oval or irregular in shape. Lesionsmay be single or multiple. They usually spontaneously regress and disappear during childhood.The prevalence of Mongolian blue spots varies among different ethnic groups according to theoverall depth of pigmentation. Mongolian blue spots are common among Asian, East Indian, andAfrican races, but rare among Caucasian and other races. Mongolian blue spot is a congenital,developmental condition exclusively involving the skin. Mongolian blue spot results from entrapmentof melanocytes in the dermis during their migration from the neural crest into the epidermis. Thismigration is regulated by exogenous peptide growth factors that work by the activation of tyrosinekinase receptors. It is postulated that accumulated metabolites such as GM1and heparin sulfatebind to this tyrosine kinase receptor and lead to severe neurologic manifestations and aberrantneural crest migration.
7.Result of Immuno-Regulating Treatment in Active New Pulmonary TB Patients in Mongolia
Enkhtamir P ; Baatarkhuu O ; Naranbat N ; Yanjindulam P ; Enkhtuya S ; Munkhzul B ; Sarangoo G ; Oyungerel R ; Tsogtsaikhan S ; Altankhuu M
Mongolian Medical Sciences 2009;148(2):21-25
Background: Natural protection against Mycobacterium tuberculosis is based on cell-mediated immunity, which most importantly involves CD4+ and CD8+ T-cell subsets. Therefore, the evaluation of CD4+ and CD8+ T-cell profi les are important to evaluate cell-mediated immunity. Immuno-regulating therapy is important in increase of T cell subsets. Objective: To determine some T-cell subsets in active pulmonary tuberculosis patients following immunoregulating treatment in intensive phase of antituberculosis treatment, so to evaluate the treatment effect. Method: This study was conducted in TB clinic of National Center for Communicable Diseases (NCCD) between Aug 2008 and Mar 2009. CD4+ and CD8+-T cells were evaluated in 50 active pulmonary tuberculosis (infi ltrative form) cases before antituberculosis treatment (25 cases with Salimon-Study group, 25 cases without SalimonControl group) Patients with chronic disease, pregnant and alcohol users are excluded. The T cell subsets count was performed by FACSCount fl ow cytometer at the Immunology Laboratory of the NCCD,Mongolia.The monoclonal antibodies to CD3, CD4 and CD8 (Becton Dickinson) were used for the analysis. Result: CD4 count was 605,1242,7 cells/microL, CD8 count-470,92235,7 cells/microL, CD3 count-1130,7425,6 cells/microL, CD4/CD8 ratio was-1,480,67. CD4, CD8, CD3 cells were signifi cantly lower (P=0.05) in active pulmonary TB patients than in healthy Mongolian. And these subsets were signifi cantly lower in older patients (>50 age).There was no statistical signifi cance in sex and other age groups (p>0, 05). There were statistical signifi cances such as CD4 count, CD4/CD8 ratio (CD4-733,95314,38 cells/micro, CD4/CD8 ratio-1.870,7 in treatment group, CD4-570,54213.07 cells/micro, CD4/CD8 ratio-1.260.45 in control group) between TB and control group at the end of intensive phase of antituberculosis treatment (=0,05, =0,001). However, there were not any signifi cance CD8 count and CD3 count between two groups (CD8-423,68174,28 cells/microL, CD3-1212,27453,98 cells/microL in treatment group, CD8-500,67203,74cells/microL, CD3 -1139,33 386,47 cells/ microL in control group) (=0,05). Conclusion: 1. T cell subsets were signifi cantly lower in active,new,smear positive, pulmonary TB patients than in healthy Mongolians (p=0.05). 2. The statistical signifi cance is observed in 50 years and older TB patients (p=0.05). 3. CD4, CD4/CD8 were signifi cantly higher in patients treated with immuno-regulating treatment than in patients of control group (=0,05, =0,001).
8.Study of hereditary neuropathy in the large kindreds of Gobi-Altai province
Batchimeg B ; Bilegtsaikhan TS ; Oyungerel G ; Tselmen D ; Erdenechimeg YA ; Oyuntsetseg М ; Baasanjav D ; Munkhtuvshin N ; Munkhbat B
Mongolian Medical Sciences 2012;161(3):20-24
The purpose of the present study was to elucidate genealogical and clinical features of hereditary neuropathy in the several kindreds of Gobi-Altai province.Materials and Methods: In the present study, we investigated five kindreds originated from Bayan-Uul sum, Gobi-Altai province on the basis of previous surveys. Each participant was enrolled for genealogical and neurological examinations according to specific questionnaire. We also collected biological samples for further genetic study. Genomic DNA was isolated from biological samples, and quantitative analysis of DNA was determined by spectrophotometer and Picogreen assays.Results: Twenty members from five kindreds were investigated. Genealogical analysis revealed that there is a linkage between two kindreds within the families enrolled into study, whereas no association was revealed among the other pedigrees. As a phenotype of the hereditary neuropathy, the clinical features were inherited in every generation, and the inheritance was not dependent on the gender. In neurological examination, age of hereditary neuropathy onset was detected as follows. The clinical features appeared in the first decade of life in 4 patients, in the second decade of life in 5 patients, and for the other members the disease started in the age of over 20 years. Common clinical features of hereditary neuropathy were characterized by hypomimic- and mask shape face, muscular atrophy of upper and lower limbs, and pes cavus. Interestingly five female patients had similar gynecological problems. Conclusions:1. The hereditary neuropathy exists in the kindreds of Bayan-Uul sum, Gobi-Altai province and the type of inheritance could be categorized as autosomal dominant.2. Onset of hereditary neuropathy disease was started mostly in the second decade of life. Common clinical features of hereditary neuropathy were characterized by hypomimic- and mask shape face, muscular atrophy of upper and lower limbs, and pes cavus. Apart from general clinical features, the specific complications related to metabolic disorders and pregnancy was detected.
9. Study of growth gene of Mongolians
Enkhdelger M ; Oyungerel G ; Tselmen D ; Batchimeg B ; Bujin E ; Avirmed A ; Munkhbat B ; Amgalanbaatar D ; Munkhtuvshin N
Health Laboratory 2013;1(1):35-52
10.Clinical features of ophthalmology in thyroid disease
Oyungerel B ; Erdenezul G ; Misheel B ; Uranchimeg D ; Chimedlkhamsuren G ; Nomin-Erdene M ; Sarantuya J
Innovation 2021;14(2-Ophthalmology):6-10
Background:
TED (thyroid eye disease) is an inflammatory disease of the orbit caused by
autoimmune diseases of the thyroid, which adversely affect the vision, appearance, and quality
of life. Exophthalmos and eyelid retraction are the main features of TED, which can lead to ocular
motility, diplopia, optic neuropathy, and permanent vision loss. The study aims to determine the
most common clinical signs of TED in Mongolians and define whether there is a correlation with
the levels of thyroid autoantibodies.
Methods:
The study involved 102 patients with TED and 81 patients with Graves’ ophthalmopathy.
The clinical features of TED were identified and evaluated by activity score (CAS) and severity of
GO using the European Group of Graves’ Orbitopathy (EUGOGO).
Results:
The mean age of TED patients was 42.6±11.2, which was younger than GD patients
(P=0.012). The current smoker was 24 patients (23.5%) with TED, which is relatively higher than GD
(P=0.0001). The most common ocular signs were eyelid retraction 80 (78.4%), proptosis 77 (75.5%),
diplopia 14 (13.7%) and 4% vision loss. There were no differences in proptosis between the right (18
mm, median) and left eye (17.8 mm, median) (P>0.05). The mean CAS score was 3.09±1.72 and
varied depending on gender and smoking. According to EUGOGO, 62.7% of the patients were
moderately severe. Only 7 % of the patients were in the sight-threatening stage, presenting optic
neuropathy and corneal breakdown. The mean TSI level in patients with TED was 37.95 ± 35.41 IU
/ ml, which was 2.7 times higher than the mean in patients with GD.
Conclusions
Eyelid retraction and exophthalmos are the most common clinical signs of TED.
Early diagnosis of these features can prevent complications of the disease. Determining serum TSI
levels will help in the treatment and monitoring of TED.