Background: Spinal muscular atrophy (SMA) is a degenerative neuromuscular disease that causes progressive muscle weakness and atrophy due to the loss of the motor neurons. Approximately 95% of patients with SMA are homozygous for the deletion of SMN1 exon 7. With an incidence of 1/10.000 and a carrier frequency of 1/40 to 1/50, SMA is the most common genetic cause of death in infants. Purpose: To detect homozygous deletion of SMN1 exon 7 and to analyse the SMN1 copy number by molecular genetic analysis. Materials and Methods: In this study, 3 SMA patients with SMN1 gene homozygous deletion and 17 people of their relatives were included. Molecular genetic analysis was performed in the Central Scientific Research Laboratory of the Institute of Medical Sciences. DNA was extracted from peripheral blood, and its purity was assessed by spectrophotometer. Homozygous deletion of SMN1 gene was analyzed with allele-specific PCR, and the SMN1 gene copy number was evaluated by real-time PCR. Results: Among the five participants diagnosed with SMA by clinical symptom and electromyographic test, three cases were found to have homozygous deletion of exon 7 of the SMN1 gene, while two cases did not exhibit such mutation by the allele specific PCR analysis.
The mean age of study participants was 27.76±16.07 (ranging from 8 months to 52 years). Six of the 7 relatives of the first proband had 1 copy number of SMN1 (0.75±0.29) or were carriers of SMA, while one had 3 copy numbers (2.99) or no deletion of SMN1 gene. Additionally, 6 of the 7 individuals of the second proband had 1 copy number of the SMN1 gene (0.72±0.14), and 1 person had 2 copy numbers. All 3 relatives of the third proband had 1 copy number of SMN1 gene (0.96±0.37). Conclusion We consider that determination of SMN1 gene homozygous deletion and carrier testing can be performed by the PCR method locally. Further, it is necessary to implement the molecular genetic testing method into practice and to study the requirements and needs of early detection of SMA in the newborn screening program of Mongolia.

Background: Spinal Muscular Atrophy (SMA), an autosomal recessive disorder characterized by lower motor neuron loss, leads to progressive muscle weakness and atrophy. With a neonatal incidence ranging from 1:6000 to 1:11000, individuals affected by SMA face challenges in locomotor function. The advent of newborn screening tests, early diagnostic techniques, and the introduction of gene therapy have, however, shown promise in enabling the acquisition of these motor skills. Objective: This review article seeks to shed a light on current understandings of the epidemiology, clinical presentations, diagnostic methods, and treatments for spinal muscular atrophy, highlighting cutting edge approaches within the discipline. Methods: A thorough search was conducted on PubMed, Cochrane, National Institutes of Health, and Web of Science databases for recent research articles concerning SMA’s incidence, prevalence, clinical manifestations, early detection, genetic testing and contemporary gene therapy. Results: The prevalence of SMA stands at 1-2 cases per 100,000 population, with an incidence of approximately 8 cases per 100,000 live births. Pre-1995 studies exhibited varying prevalence rates due to using non molecular-biological methods, small localized populations, diagnostic errors, and regional characteristics. Diagnosis involving Multiplex ligation-dependent probe amplification (MLPA), quantitative polymerase chain reaction (qPCR), or next-generation sequencing (NGS) analysis to confirm SMN1 and SMN2 gene status aids in identifying carriers and SMA subtypes. Countries implementing newborn screening programs have demonstrated early SMA detection in asymptomatic newborns, contributing to reduced mortality and disability rates. Currently, several types of gene therapy are being used in the treatment of SMA. Conclusion The epidemiology of SMA varies between countries and regions. It is fully possible to confirm the disease, identify carriers and subtypes. The inclusion of SMA in newborn early detection programs is crucial for reducing infant mortality and disability, and several gene therapies have received approval from relevant authorities for SMA treatment. In Mongolia, it is possible to introduce tests to confirm the disease and determine carriers and subtypes.

Background: Stroke is one of the leading causes of mortality and disability worldwide. Understanding sex differences in risk factors, clinical characteristics and death after stroke might provide valuable evidence for prevention and management of stroke. Aim: We aimed to describe sex differences in risk factors, clinical characteristics and death after intracerebral hemorrhage (ICH) and ischemic stroke (IS) using hospital-based registry in 6 districts of Ulaanbaatar, Mongolia. Materials and methods: We used hospital-based stroke registry in Ulaanbaatar Mongolia. From 2019 to 2020, total of 974 patients with acute ICH and 1612 patients with acute IS were enrolled in this study. The severity of stroke was measured by National Institutes of Health Stroke Scale (NIHSS) and Glasgow Coma Scale (GCS). Risk factors for stroke were defined as patient’s history and their medical record. Death after stroke was registered at 28 days and 90 days by follow-up study. A comparison of categorical and continuous variables was analyzed using chi-squared test, Student’s t-test and Mann Whitney U test. Univariable and multivariable logistic regression analyses were also performed. Results: The mean age of ICH patients was 58.41±11.56. There was significant difference in age (59 vs 57, p=0.009) between women and men. Men with ICH were more likely to drink alcohol (35.4% vs 5.2%, p=0.000) and to smoke (37.0% vs 8.4%, p=0.000) and to have arterial hypertension (72.7% vs 58.6%, p=0.000). However, there were no significant differences in other risk factors including atrial fibrillation, diabetes mellitus, prior stroke and other cardiac diseases. There were no sex differences in clinical characteristics including systole and diastole blood pressure, NIHSS scores and GCS. In our study, case fatality rate was 23.8% at 28 days and 1.9% at 90 days after ICH. By multivariable regression analyses, there were no significant association between sex and death at 28 days and at 90 days (OR:0.74; 95% CI:0.52-1.06, OR: 0.80; 95% CI:0.29-2.21).
The mean age of IS patients was 61.07±12.88. The women were older (63 vs 59, p=0.000) than men. Men with IS also were more likely to be current smokers (37.6% vs 9.0%, p=0.000), current drinkers (33.2% vs 3.4%, p=0.000) and to have arterial hypertension (74.7% vs 65.9%, p=0.000). There were no significant differences in other risk factors. For IS patients, there also was no sex difference in clinical characteristics. Case fatality rate was 13.3% at 28 days and 1.1% at 90 days after IS. By multivariable regression analyses, there were no significant association between sex and death at 28 days and at 90 days (OR:0.90; 95%CI: 0.64-1.26, OR:5.16; 95%CI: 0.99-23.9). Conclusion Our study showed sex differences in some vascular factors of both stroke subtypes which emphasized that we need to implement stroke prevention targeting sex-specific risk factors. While clinical characteristics and early mortality of intracerebral hemorrhage and ischemic stroke were not differed by gender.

Background: Globally the incidence of stroke is not decreasing, and the deaths and disabilities caused by stroke is increasing every year, especially in low and low-middle income countries.
Long-term trends in stroke incidence in different populations have not been well characterized, largely as a result of the complexities associated with population-based stroke surveillance.
Having reliable data on stroke morbidity and mortality, as well as periodic identification of long-term trends will be important information for proper prevention planning in the population, monitoring the disease and further improving the quality of health care. Material and Method: A prospective cohort study has been conducted in adult citizens (972409 in 2019, 925367 in 2020) of 6 districts of Ulaanbaatar from the 1st of January, 2019 to 31st of December, 2020. All first-ever and recurrent stroke cases were included using special software, developed for stroke registry, based on the WHO STEPS approach from participating radiology departments of state hospitals, district hospitals, and some private hospitals. Information of stroke death was obtained from forensic institute and state registration office of the capital city.
The trends of stroke incidence and mortality was compared to data between 1998-1999 and 2019- 2020 in UB. Results: The age-standardized crude incidence rate per 100.000 person-years of stroke were 209.0/100.000 (n=1934) in 2019 and 194.0/100.000 (n=1821) in 2020 among adults of UB city. The above results were compared to 1998-1999 studies and the incidence rate declined by 94.0/100.000 in 2019-2020, whereas mortality rate increased by 10.0/100.000 in women aged 16-34. Stroke mortality was 11.6% in 1998 and 26.5% in 1999, while in our study it was 33.87% in 2019 and 29.71% in 2020. Although the incidence of stroke rates has decreased in 1998-1999, the mortality rate has not decreased significantly. Conclusion Morbidity and mortality rates among the population of Ulaanbaatar citizen remain highest in the world, compared to 20 years ago with overall morbidity declining but mortality has not decreased.
In recent years, the Government of Mongolia has been focused on reducing non-communicable diseases, but the primary and secondary prevention and control of stroke in the general population, as well as the acquisition of knowledge attitudes, practices and access to health care still need to be improved.

Background: Stroke is still one of the leading causes of morbidity and mortality worldwide. Registry-based data of stroke are scarce in low and middle-income countries such as Mongolia. We aimed to investigate the incidence and mortality of stroke in adult population of UB Mongolia by stroke registration method. Material and Method: Covering 611265 (≥15 years old) adult citizens of three districts of Ulaanbaatar, a population-based prospective study was done from the first, January of 2019 to 31st, December of 2019. All first-ever and recurrent stroke cases were included using special software, developed for stroke registry, based on the WHO STEPS approach from participating radiology departments of state hospitals, district hospitals, and family clinics. Information of stroke death was obtained from forensic institute and state registration office of the capital city. Results : In a 1-year study period, 1068 (women 39.1%) stroke cases were registered in people with 60.16±13.66 years old. Stroke incidence rate was 169.81/100000 including first-ever and recurrent events. Stroke incidence rate was higher in men and people with 80 and above years old. The ratio between IS and ICH was 1.14:1.0. Stroke mortality was 27.1% and mortality rate was 45.94/100000. The highest rate mortality was in ICH subtype, male population and older people. Conclusion We identified relatively high incidence and mortality rate of stroke in ICH indicating an urgent need for improvement of arterial hypertension control, health education and primary prevention mainly among men.

Background: Stroke is a leading cause of death and disability, especially in low-income and middle-income countries and it impacts a tremendous medical, emotional and fiscal burden on society. Due to advances in Western healthcare, the prevalence of stroke since 1970 has decreased by 42%, whereas it has more than doubled in low-income to middle-income countries.
Stroke is a heterogeneous, multifactorial disease regulated by modifiable and nonmodifiable risk factors. Approximately 80% of stroke events could be prevented by making simple lifestyle modifications. In fact, nationwide characterization of well-known stroke factors in all social backgrounds is essential, however; populations can differ significantly not only in their socio-behavioral, legal, and geographical conditions, but also from other, historically understudied. Therefore, it is crucial to determine characterization of risk factors for ischemic stroke among Mongolian population. Objective: To determine etiology and risk factors for ischemic stroke among Mongolian population Material and methods: Our study was conducted by case-control study design. Cases were patients with acute first stroke; controls were matched with cases, recruited in a 1.2:1 ratio, for age and sex. The case series study was conducted in Stroke center of Third State Central hospital from January 2017 to December 2017. Structured questionnaires were administered and physical examinations were done in the same manner in cases and controls. Self-reported history of hypertension and diabetes mellitus or blood pressure of 140/90 mm Hg and blood sugar 6.4 mmol/L or higher was used to hypertension and diabetes mellitus, respectively. Smoking status was defined as never, former, or current smoker. Alcohol use was categorized into never or former, low intake, moderate intake, and high or episodic heavy intake. Atrial fibrillation was based on previous history, review of baseline electrocardiograph results (for cases and controls). Odds ratios (OR) and logistic regression were calculated, with 95% confidence intervals. Results: In total, 173 patients with ischemic stroke and 146 controls were included. The patients’ age ranged from 17 to 92, the mean age was 61.2. Ischemic stroke more frequent in man than women by 27.4%. Previous history of hypertension or blood pressure of 140/90 mm Hg or higher (OR 2.40, 95% CI 1.48-3.88), diabetes mellitus (OR 3.08, 95% CI 1.44-6.57), hyperlipidemia (OR 5.09, 95% CI 2.64-9.82) atrial fibrillation (OR 8.70, 95% CI 2.01-37.64 ), current smoking (OR 2.07, 95% CI 1.26-3.40), alcohol consumption (OR 4.75, 95% CI 2.58-8.73) were all significantly associated with ischemic stroke. The mean age was lower in patients with stroke of other determined etiology. The frequency of hypertension was higher in patients with lacunar infarct than other subtypes. Smoking was high frequent in patients with large artery atherosclerosis. Conclusion 6 potentially modifiable risk factors were collectively associated with ischemic stroke and were different among ischemic stroke subtypes. The odds ratios of these risk factors are higher than other countries’ study.

BACKGROUND. Annular elastolytic giant cell granuloma (AEGCG) is a rare skin disease, characterized by loss of elastic tissue due to elastophagocytosis by multinucleated giant cells in the upper part of dermis, which clinically presents as multiple annular plaques with raised erythematous border and central atrophy. We report a first case of AEGCG in dermatology practice in Mongolia. Its clinical and histological features, differential diagnosis and treatment modalities are described and discussed in detail.

BackgroundEarly detection of minor strokes and their treatment that aim to prevent from complications into severe strokes is a process of secondary prevention. There is a need to extensively use image diagnostics (CT, MRI) because signs are obscure, at times without focal neurological sign but can have special mental or psychological syndromes. The start of minor stroke studies in Mongolia will enable further deepening of these studies in future and give an impetus to identification of theoreticaland practical aspects together with further improvement of diagnostics, treatment and prevention of minor strokes.GoalTo develop and introduce the diagnostic criteria of ischemic and hemorrhagic minor strokes in accordance to the concepts of minor strokes and to treat minor stokes in order to prevent complications into severe strokes.Materials and MethodCurrently there are no globally accepted diagnostic criteria for minor stroke. We support the 1981 WHO criteria of minor strokes as strokes neurological signs of which disappear in relatively short period of time. There is a general notion that it should mean all light forms of stroke other than severe strokes. In cases of neurological signs of a minor stroke, complete recovery and elimination of the symptoms take up to 3 weeks. Most scholars tend to consider ischemic lacunar strokes (arising from occlusion of arteriole vessels deep in the brain and with size of 0.5-20 mm) as minor strokes. We maintained the concept that characteristic features of these strokes are their limited focal areas and the following neurological symptoms: pure motor, pure sensory, light ataxia, etc. We also duly considered a suggestion (D. German, L. G. Koshchug et al, 2008 ) to define minor hemorrhagic strokes as strokes with diameter less than 2 cm and blood volume less than 5 cm3.We identified 60 patients with minor strokes, involved in monitoring using special research template (with a term of at least 1.5years) and involved in pathogenesis treatment. In the treatment, we maintained a principle of differential diagnosis of ischemic stroke symptoms. Specifically, we differentiated the following: signs related to an atherotromb, cardio-embolic, lacunar, hemodynamic, hemorheologic pathogenesis. To verify the diagnoses, we used MRT and CT image tests. We executed paraclinic tests in order to identify risk factors: Doppler-duplex-sonography, brain angiography, blood lipid fraction, ECG, EchoCG, heart Holter, blood hemorheology test, and identified the most affecting factors (hereditary factors, excess weight, smoking etc).Results: Our study identified the following clinical forms: lacunar stroke, non-lacunar minor stroke, and hemorrhagic minor stroke. Among the minor strokes, the lacunar stroke dominates (48%), the nonlacunar stroke is the next (27.7%), and the hemorrhagic was found to be the least common 25%. From among a host of risk factors, arterial hypertension is dominant (86%) either alone or in combination with such other diseases as diabetes, atherosclerosis etc. Diabetes occurrence was 5 cases (8,3%) which is fewer than in some foreign studies.The clinic of minor stroke also varies. The strength and expression of their symptoms compared with those of severe strokes are unique in the following:- Relatively lighter and recover faster as a result of treatment even in acute forms,- Some are without specific clinical signs (“silent stroke”).- Some minor strokes have micro focal signs, for example, “pure motor”, pure sensory, ataxia etc, in other words, the signs are limited.- In cases of lacunar strokes, predominantly deep brain arterioles are damaged.- Whereas in non-lacun strokes, embolic, ateroma, thrombotic mechanisms are predominant suchas distal branches of big artery. - In cases of hemorrhagic minor strokes, arteriopathy distortions occur not only in depth of brain but also in any small lobar vessels of brain.- Focal lesions have some variations by their pathological locations and minor stroke signs.In non-lacunar strokes (25%), the focal damages predominantly occur in branches of large intra/extra cranial arteries. In cases of lacunars strokes, the focal lesion is not in branches of large intracranial vessels, but is predominantly in basal ganglia, deep white matter, thalamus, pons and in area of deep penetrating arterial vessels. However, focal infarcts in cerebella may occur in any form of minor strokes.ConclusionAccording our study there were identified 3 subtypes of minor stroke. The finding is that lacunars and hemorrhagic minor strokes are more likely to give grounds to severe strokes. From this, it can be concluded that there are specific factors in the population of Mongolia to affect the genesis of minor strokes, namely, arterial hypertension which is directly related with these forms of minor strokes. We appropriate the WHO criteria of minor stroke that is neurological signs of a minor stroke, complete recovery and elimination of the symptoms take up to 3 weeks. In treatment of minor stroke, we suggest that minor strokes should be treating by pathogenetic therapy. Namely, antihypertensive therapy for lacunar infarction, anti-aggregation therapy for nonlacunar infarction and haemostatic and antihypertensive therapy for hemorrhagic minor stroke.

Background: Cognitive impairment (CI) is common in Parkinson’s disease (PD) and 20%-80% of patients with PD will develop dementia over time. The Montreal cognitive assessment (MoCA) is a short cognitive screening tool for CI in PD patients. The mini-mental state examination (MMSE) often fails to detect early cognitive decline.Objective: The aim of this study is to compare MMSE to MoCA scores in Mongolian patients with Parkinson’s disease.Methods: Clinical history of 47 patients with diagnosis of PD in according to clinical criteria of the UKBBPD has been enrolled. The patients were assessed using Hoehn and Yahr stage (HY), Unified Parkinson’s Disease Rating Scale (UPDRS III parts), MMSE and MoCA. Patients normal and with CI were classified using cut-off MMSE and MoCA scores 25 or below.Results: Total 47 patients: 21 male (44.7%) and 26 female (55.3%) patients were included. The mean age was 64.2±2.6 years, the mean HY stage was 2.4±0.3 and the mean disease duration was 5.5±1.2 years. The mean MoCA score was 25.7±3.1 (SD 4.3; range 13-30) with the following distribution for categories: normal in 42.6% (20 cases) and CI in 57.4% (27 cases) of patients and the mean MMSE score was 27.2±0.8 (SD 2,8; range 18-30) with the following distribution for categories: normal in 72,3% (34 cases) and CI in 27,6% (13 cases) of patients with PD. Patients with cognitive impairment had advanced HY stage (p<0.05) and greater motor deficiency on UPDRS III (p<0.05) than patients without cognitive impairment. In contrast, there were no significant differences in age, disease duration and onset of disease. Cognitive impairments on the MoCA were seen in numerous cognitive domains, including visuospatialand executive abilities (40.4%), attention (57.4%), abstraction (53.1%), memory (93.6%) and language (68.0%), naming and orientation (8.5%) and on the MMSE were seen in some cognitive domains, including attention (36%), memory (57%) and language (23%) and orientation (19%) respectively.Conclusion:• 57.4% and 27,6% of the patients with PD have cognitive deficits based on their MoCA and MMSE score. This suggests that the MoCA will be more sensitive than the MMSE to detect cognitive impairment in PD patients.• Cognitive impairment was more common in PD patients with advanced HY stage and severe motor symptoms.• Attention, language and memory impairment, executive function and language were the most common patterns of CI in PD patients valued by the using of the MoCA and MMSE.

Prevalence and incidence of allergic rhinitis have been increasing in the last years in the Asia Pacific countries and for this reason, research on aeroallergen and aeropollinology has also been increasing. The aim of this study was determined morphologic characteristics of Bromus inermis grass pollen. The pollen morphologic characteristics of the Bromus inermis were determined by optic microscopy (Aristoplan, Leitz, Germany). Allergenic protein components of Bromus inermis pollen were purified by the methods of Hames and Richmond. Dry pollen of Bromus inermis has oval shape and concaved on 3 sides. Average length and width of dry pollen of Bromus inermis was 41,5±2,3 µm and 32,3±4,1 µm respectively. These results are consistent with that Gramineae and Poaceae subfamily pollens have oval shapes with length from 22 to 80 µm.