Mucopolysaccharidosis type I Hurler-Scheie syndrome: a case report.

Introduction and importance: Hurler syndrome, also known as mucopolysaccharidoses type I, is a rare autosomal recessive lysosomal storage disorder with decreased activities of α-L iduronidase, resulting in the accumulation of glycosaminoglycans (GAGs) within various tissues. Case presentation: The authors presented a case report of a 15-year-old male who presented with a lower respiratory tract infection and was admitted to the pediatrics department with a history of facial dysmorphism, skeletal abnormalities, and corneal clouding and below-normal cognitive function which is consistent with the Hurler-Scheie syndrome. Skeletal abnormalities include inverted j-shaped sella turcica, bullet-shaped phalanges, thoracolumbar kyphosis, and acetabular dysplasia. Clinical discussion: Mucopolysaccharidosis I is classically divided into three syndromes, that is, Hurler syndrome (the severe form), Hurler-Scheie syndrome (the intermediate form), and Scheie syndrome (the attenuated form). Most of a doctor's first diagnosis is based on their observation of the signs and symptoms. Conclusion: Early disease diagnosis, genetic counseling, and regular follow-up with recent treatment modalities can reduce mortality significantly and improve the child's health status.

Estimation of 10-year cardiovascular risk among adult population in western Nepal using nonlaboratory-based WHO/ISH chart, 2023: A cross-sectional study.

Background and Aims: Noncommunicable diseases have emerged as a major cause of morbidity and mortality worldwide among which the majority of the deaths are caused by cardiovascular diseases. Estimating the risk of cardiovascular diseases helps eliminate the risk factors and prevent developing cardiovascular diseases in the future. The World Health Organization in association with the International Society of Hypertension has developed risk charts for the estimation of 10-year risk for cardiovascular diseases. This study aimed to estimate 10-year cardiovascular risk in the Nepalese population using nonlaboratory-based charts. Methods: A hospital-based cross-sectional study was conducted among 314 adults aged 40-74 years visiting the outpatient departments of Shishuwa Hospital in western Nepal. Systematic random sampling was used to select the participants. Questionnaire-guided short interviews, physical examination, and anthropometric measurements were done. The χ 2 test was used to test the significance and a p < 0.05 was considered statistically significant. Results: As per the risk estimation charts, high cardiovascular risk (20%-30%) was seen in 6.1% of total participants and moderate cardiovascular risk (10%-20%) was found in 29% of participants. The moderate-high risk was significantly higher among male participants compared to females (p < 0.01). Of all the participants, 22.0% were current smokers, 17.2% were alcohol users, 61.1% were hypertensive, and 35.7% were diabetics. Smoking tobacco, alcohol use, and hypertension were significantly more prevalent among the male participants. (p < 0.01) Adults in the 50-59 years age group had a significantly high prevalence of hypertension (p < 0.01), diabetes (p = 0.02), and alcohol abuse (p = 0.01). Conclusion: This study shows high cardiovascular risk among adult population in western Nepal. The 10-year cardiovascular risk score and risk factors were significantly higher among males than females. There seems to be a prompt necessity of health promotion interventions to reduce cardiovascular risk factors and prevent the burden of cardiovascular diseases in Nepal.

Assessing the Potential Distribution of Oxalis latifolia, a Rapidly Spreading Weed, in East Asia under Global Climate Change.

Oxalis latifolia, a perennial herbaceous weed, is a highly invasive species that poses a threat to agricultural lands worldwide. East Asia is under a high risk of invasion of O. latifolia under global climate change. To evaluate this risk, we employed maximum entropy modeling considering two shared socio-economic pathways (SSP2-4.5 and SSP5-8.5). Currently, a small portion (8.02%) of East Asia is within the O. latifolia distribution, with the highest coverages in Chinese Taipei, China, and Japan (95.09%, 9.8%, and 0.24%, respectively). However, our projections indicated that this invasive weed will likely be introduced to South Korea and North Korea between 2041 and 2060 and 2081 and 2100, respectively. The species is expected to cover approximately 9.79% and 23.68% (SSP2-4.5) and 11.60% and 27.41% (SSP5-8.5) of the total land surface in East Asia by these time points, respectively. South Korea and Japan will be particularly susceptible, with O. latifolia potentially invading up to 80.73% of their territory by 2081-2100. Mongolia is projected to remain unaffected. This study underscores the urgent need for effective management strategies and careful planning to prevent the introduction and limit the expansion of O. latifolia in East Asian countries.

Global spatial distribution of Chromolaena odorata habitat under climate change: random forest modeling of one of the 100 worst invasive alien species.

Anthropogenic activities and global climate change increase the risk of Chromolaena odorata invasion and habitat expansion. To predict its global distribution and habitat suitability under climate change, a random forest (RF) model was employed. The RF model, utilizing default parameters, analyzed species presence data and background information. The model revealed that the current spatial distribution of C. odorata covers 7,892,447 km2. Predictions for 2061- 2080 indicate expansion of suitable habitat (42.59 and 46.30%), reduction of suitable habit (12.92 and 12.20%), and preservation of suitable habitat (87.08 and 87.80%) under the SSP (Shared Socio-economic Pathway) 2-4.5 and SSP5-8.5 scenarios, respectively, in comparison to the present distribution. Currently, C. odorata is predominantly found in South America, with limited presence in other continents. However, the data suggest that climate change will elevate the global invasion risk of C. odorata worldwide, particularly in Oceania, Africa, and Australia. Countries such as Gambia, Guinea-Bissau, and Lesotho, which currently have unsuitable habitats, are predicted to have highly suitable habitats with climate change, supporting the idea that global habitat expansion for C. odorata will occur due to climate change. This study indicates that proper management of C. odorata is crucial during the early invasion phase.

Radio Tracking Reveals the Home Range and Activity Patterns of Nutria (Myocastor coypus) in the Macdo Wetland in South Korea.

Nutria (Myocastor coypus) are semi-aquatic rodents that were introduced in South Korea for commercial farming but significantly damaged aquatic ecosystems. Understanding nutria ecological behavior is essential for developing effective control and eradication strategies to mitigate their impacts. Thus, this study aimed to investigate the home range and activity patterns of 24 nutria (12 males and 12 females) in the Macdo wetland in South Korea from 2015-2016 through radio tracking. The average minimum convex polygon home range of the nutria was 0.29 ± 0.55 km2, with a 95% kernel density estimation (KDE) home range of 0.43 ± 0.85 km2 and a 50% KDE home range of 0.05 ± 1.1 km2. The home range of males was larger than that of females; however, the winter home range of females was as large as that of males. The home range also varied seasonally, with the smallest observed in winter. The nutria showed crepuscular and nocturnal activity patterns throughout the year, with no significant difference between sexes. The activities in spring, summer, and autumn showed no significant differences, but the activity in winter was significantly different from that in the other seasons. This study may serve as a basis for developing appropriately timed and scaled management strategies to mitigate the impacts of nutria on ecosystems. In conclusion, several environmental and biological factors contribute to the behavior of nutria in South Korea.

Predicting the Impact of Climate Change on the Habitat Distribution of Parthenium hysterophorus around the World and in South Korea

The global climate change, including increases in temperature and precipitation, may exacerbate the invasion by P. hysterophorus. Here, MaxEnt modeling was performed to predict P. hysterophorus distribution worldwide and in South Korea under the current and future climate global climate changes, including increases in temperature and precipitation. Under the current climate, P. hysterophorus was estimated to occupy 91.26%, 83.26%, and 62.75% of the total land area of Australia, South America, and Oceania, respectively. However, under future climate scenarios, the habitat distribution of P. hysterophorus would show the greatest change in Europe (56.65%) and would extend up to 65°N by 2081-2100 in South Korea, P. hysterophorus currently potentially colonizing 2.24% of the land area, particularly in six administrative divisions. In the future, P. hysterophorus would spread rapidly, colonizing all administrative divisions, except Incheon, by 2081-2100. Additionally, the southern and central regions of South Korea showed greater habitat suitability than the northern region. These findings suggest that future climate change will increase P. hysterophorus distribution both globally and locally. Therefore, effective control and management strategies should be employed around the world and in South Korea to restrict the habitat expansion of P. hysterophorus.

Cervical Papanicolaou Smear Test Screening among Patients Visiting the Outpatient Department of Gynaecology of a Tertiary Care Centre.

Introduction: Carcinoma cervix is the second most common cause of death in women worldwide and the most common cause in developing countries. Cervical cancer is considered a preventable gynaecological problem as it has a long premalignant stage which can be detected by exfoliative cytology like papanicolaou smear test. The papanicolaou smear test is a simple, safe, non-invasive, and low-cost effective method for screening cervical cancer in developing countries like Nepal. The aim of the study was to find out the prevalence of cervical papanicolaou smear test screening among patients visiting the Outpatient Department of Gynaecology of a tertiary care centre. Methods: A descriptive cross-sectional study was conducted among patients visiting the Department of Gynaecology of a tertiary care centre after obtaining ethical approval from the Institutional Review Committee. Data from 14 April 2021 to 22 October 2022 were collected between 11 May 2023 to 26 May 2023 from the hospital records. Papanicolaou smear tests among the age group of 21 years up to 70 years were included in the study. Convenience sampling method was used. The point estimate was calculated at a 95% Confidence Interval. Results: Among 11,173 patients, papanicolaou smear test was done in 572 (5.12%) (4.71-5.53, 95% Confidence Interval). Negative for intraepithelial lesion was the most common cytological pattern seen in 518 (90.55%) patients. The low-grade squamous intraepithelial lesion was the most common among abnormal epithelial cells seen in 29 (5.07%). Conclusions: The prevalence of cervical papanicolaou smear test among patients visiting the Outpatient Department of Gynaecology was found to be similar to other studies done in similar settings. Keywords: cervical cancer; cytology; papanicolaou smear.

Molecular Evidence Reveals the Sympatric Distribution of Cervus nippon yakushimae and Cervus nippon taiouanus on Jeju Island, South Korea.

Non-native species threaten native ecosystems and species, particularly on islands where rates of endemism and vulnerability to threats are high. Understanding species invasion will aid in providing insights into ecological and evolutionary processes. To identify the non-native sika deer (Cervus nippon) population in Jeju, South Korea, and their phylogenetic affinities, we collected tissue samples from roadkill and the World Natural Heritage Headquarters in Jeju. Mitochondrial DNA cytochrome B (CytB) gene sequences were analyzed to determine two distinct CytB haplotypes. Phylogenetic analysis using maximum likelihood tree revealed two haplotypes of CytB clustered into two different groups representing two subspecies: C. n. yakushimae, native to Japan, and C. n. taiouanus, native to Taiwan. The tentative divergence time between the two subspecies was estimated at 1.81 million years. Our study confirmed that the two subspecies of sika deer are sympatric in the natural ecosystem of Jeju Island. This study provides valuable information to help government and conservation agencies understand alien species and determine control policies for conserving native biodiversity in South Korea.

Climate change induced habitat expansion of nutria (Myocastor coypus) in South Korea.

The nutria, (Myocastor coypus), is a semiaquatic rodent native to the subtropical and temperate regions of South America. The species was introduced to South Korea for meat and fur production purposes and a wild population has become established. The species subsequently invaded aquatic ecosystems and destroyed aquatic vegetation and cultivated crops. Thus, it is essential to understand their current distribution and future range expansion for effective control and eradication strategies to reduce the risk of colonization into new regions. In this study, we used niche modeling procedure to identify potentially suitable habitats for M. coypus under current and future predicted climate change using the maximum entropy algorithm. We found that the main habitat area of M. coypus is expected to expand under a warming climate from ~ 4069 km2 in the southern and southeastern regions of South Korea, to the northern border of the country, with estimated ranges of 21,744 km2, 55,859 km2, and 64,937 km2 by 2030, 2050, and 2070, respectively. The findings of the present study assist in identifying the future distribution and potential dispersion routes of M. coypus in South Korea, which is important for informing the government regarding essential management actions plans at regional and local scales.

Assessment of the Spatial Invasion Risk of Intentionally Introduced Alien Plant Species (IIAPS) under Environmental Change in South Korea.

Predicting the regions at risk of invasion from IIAPS is an integral horizon-scanning activity that plays a crucial role in preventing, controlling, and eradicating invasive species. Here, we quantify the spatial distribution area and invasion risk of IIAPS using a species distribution model under different levels of environmental change in South Korea. From the model predictions, the current average spatial extent of the 10 IIAPS is 33,948 km2, and the individual spatial extents are estimated to change by -7% to 150% by 2050 and by -9% to 156% by 2070. The spatial invasion risk assessment shows that, currently, moderate-to-high invasion risk is limited to coastal areas and densely populated metropolitan cities (e.g., Seoul, Busan, and Gwangju), but that the area with this level of risk is expected to spread toward the central and northern regions of the country in the future, covering 86.21% of the total area of the country by 2070. These results demonstrate that the risk of invasion by IIAPS is estimated to enlarge across the whole country under future environmental changes. The modeling system provided in this study may contribute to the initial control and strategic management of IIAPS to maintain the dynamic ecosystems of South Korea.

Predicting Impacts of Climate Change on Northward Range Expansion of Invasive Weeds in South Korea.

Predicting the distribution of invasive weeds under climate change is important for the early identification of areas that are susceptible to invasion and for the adoption of the best preventive measures. Here, we predicted the habitat suitability of 16 invasive weeds in response to climate change and land cover changes in South Korea using a maximum entropy modeling approach. Based on the predictions of the model, climate change is likely to increase habitat suitability. Currently, the area of moderately suitable and highly suitable habitats is estimated to be 8877.46 km2, and 990.29 km2, respectively, and these areas are expected to increase up to 496.52% by 2050 and 1439.65% by 2070 under the representative concentration pathways 4.5 scenario across the country. Although habitat suitability was estimated to be highest in the southern regions (<36° latitude), the central and northern regions are also predicted to have substantial increases in suitable habitat areas. Our study revealed that climate change would exacerbate the threat of northward weed invasions by shifting the climatic barriers of invasive weeds from the southern region. Thus, it is essential to initiate control and management strategies in the southern region to prevent further invasions into new areas.

Potential Distribution of Amphibians with Different Habitat Characteristics in Response to Climate Change in South Korea.

Amphibian species are highly vulnerable to climate change with significant species decline and extinction predicted worldwide. However, there are very limited studies on amphibians in South Korea. Here, we assessed the potential impacts of climate change on different habitat groups (wetland amphibians, Group 1; migrating amphibians, Group 2; and forest-dwelling amphibians, Group 3) under future climate change and land cover change in South Korea using a maximum entropy modelling approach. Our study revealed that all amphibians would suffer substantial loss of suitable habitats in the future, except Lithobates catesbeianus, Kaloula borealis, and Karsenia koreana. Similarly, species richness for Groups 2 and 3 will decline by 2030, 2050, and 2080. Currently, amphibian species are widely distributed across the country; however, in future, suitable habitats for amphibians would be concentrated along the Baekdudaegan Mountain Range and the southeastern region. Among the three groups, Group 3 amphibians are predicted to be the most vulnerable to climate change; therefore, immediate conservation action is needed to protect them. We expect this study could provide crucial baseline information required for the government to design climate change mitigation strategies for indigenous amphibians.

Illegal wildlife trade in local markets of Feuang and Mad districts of Vientiane Province, Lao People's Democratic Republic.

The Lao People's Democratic Republic has emerged as a hub for illegal flora and fauna trade, more specifically, species in protected categories. However, numerous local species are traded and given less consideration despite their importance. Hence, we observed the local markets in the Feuang and Mad districts of Vientiane Province in summer and winter seasons to determine the species for trade, as well as their volume and conservation status. Altogether, 602 specimens corresponding to 23 genera and 22 species were identified. Among them, the highest number of species was mammals, followed by birds, reptiles, amphibians, and insects. Six species are listed in threatened categories according to the International Union for Conservation of Nature and nine under Convention on International Trade in Endangered Species categories. The species in trade varied between seasons, as winter was the main poaching season for mammals and birds and summer was for amphibians, reptiles, and insects. This study revealed that food, traditional medicine, and curio production were the main reasons for wildlife trade. The lack of strong regulations, monitoring and law enforcement, and poverty are the major reasons for wildlife trade. Therefore, strong law enforcement, creating alternate income sources, and participatory conservation programs are required to effectively control wildlife trade in the Lao People's Democratic Republic.

New record of the Oriental house rat, Rattus tanezumi, in Nepal inferred from mitochondrial Cytochrome B gene sequences.

This study determines the presence of R. tanezumi from in Nepal using morphological and molecular analyses. Morphologically, it is indistinguishable with R. rattus owing to similar fur colour and morphometric data. However, molecular identification and phylogenetic analysis using sequences of the mitochondrial DNA (mtDNA) Cytochrome B (CytB) gene revealed two different species R. rattus and R. tanezumi from collected specimens. The genetic distance between R. rattus and R. tanezumi was found 0.043. In phylogenetic tree, the clade of R. tanezumi is distinguished into two sub-clades, R. tanezumi found in Nepal, and East Asian countries, China, Laos, Thailand, Viet Nam, and South Korea have genetic distance 0.031, suggesting the different lineages of R. tanezumi. This study confirmed the R. tanezumi present in Nepal. Our findings suggest that morphological analysis and molecular study should be carried out simultaneously for accurate identification of small sized cryptic mammals like R. tanezumi and R. rattus.

First molecular evidence of Mus musculus bactrianus in Nepal inferred from the mitochondrial DNA cytochrome B gene sequences.

To identify the house mice collected in Pokhara and Lumbini of Nepal at the subspecies level, morphological and molecular analyses were carried out. Morphologically, two populations collected in Pokhara and Lumbini were distinguished by fur colour, but there was no significant difference in external measurements (p > .05). The phylogenetic analysis results revealed that the haplotypes sequences of mitochondrial DNA (mtDNA) Cytochrome B (CytB) gene distinguished into two distinct clades on a phylogenetic tree representing two subspecies, Mus musculus bactrianus and M. m. castaneus in Pokhara and Lumbini, respectively. In Nepal, the subspecies M. m. bactrianus was not reported before this study. These findings concluded that at least two subspecies, M. m. bactrianus and M. m. castaneus currently exist in Nepal. We estimated that these two subspecies could have introduced together with human migration, while further study is required to understand their evolutionary history and current distribution.

Complete mitochondrial genome of the Ussuri white-toothed shrew Crocidura lasiura (Insectivora, Soricidae).

We obtained the complete mitochondrial genome of the Ussuri white-toothed shrew Crocidura lasiura (Insectivora, Soricidae) at 17 362 base pairs (bp) containing 13 protein-coding genes, two ribosomal RNAs, 22 transfer RNAs, and a non-coding control region. Its gene order is identical to that of other vertebrates. Several repeat elements were identified in the non-coding control region (D-loop). Phylogenetic tree using mt protein-coding gene sequences showed that C. lasiura was closely related to C. attenuata. The reports of mt genome sequences of Crocidura were not enough to study phylogenetic relationships in genome levels. However, this report may help us to understand the phylogenetic relationships and evolutionary history of Crocidura.

Complete mitochondrial genome of the far eastern Myotis, Myotis bombinus (Chiroptera, Vespertilionidae).

The complete mitochondrial genome of the Far Eastern Myotis, Myotis bombinus (Chiroptera, Vespertilionidae) is determined in this study. It is 17 128 base pairs in length with 13 protein-coding genes, 2 ribosomal RNAs, 22 transfer RNAs, and a non-coding control region. Its gene order is identical to that of other typical vertebrates. There are two tandem repeat sequences in the non-coding control region. Each repeat sequences contains 5 copies of 81 nucleotides and 42 copies of 6 nucleotides. Phylogenetic tree of mt 13 protein-coding gene sequences of 18 species in the family Vespertilionidae shows two distinct clades. Clade I consists of Myotis and Murina, while Clade II contains all other species analyzed.

Comparative transcriptomic analysis by RNA-seq to discern differential expression of genes in liver and muscle tissues of adult Berkshire and Jeju Native Pig.

RNA-seq is being rapidly adopted for the profiling of the transcriptomes in different areas of biology, especially in the studies related to gene regulation. The discovery of differentially expressed genes (DEGs) between adult animals of Jeju Native Pig (JNP) and Berkshire breeds of Sus scrofa, is of particular interest for the current study. For the better understanding of the gene expression profiles of the liver and longissimus dorsi muscle, DEGs were identified via RNA-seq. Sequence reads were obtained from Illumina HiSeq2000 and mapped to the pig reference genome (Sscrofa10.2) using Tophat2. We identified 169 and 39 DEGs in the liver and muscle of JNP respectively, by comparison with Berkshire breed. Out of all identified genes, 41 genes in the liver and 9 genes in the muscle have given significant expression. Gene ontology (GO) terms of developmental process and KEGG pathway analysis showed that metabolic, immune response and protein binding were commonly enriched pathways in the two tissues. Further the heat map analysis by ArrayStar has shown the different levels of expression in JNP with respect to the Berkshire breed. The validation through real time PCR and western blotting also confirmed the differential expression of genes in both breeds. Genes pertaining to metabolic process and inflammatory and immune system are more enriched in Berkshire breed. This comparative transcriptome analysis of two tissues suggests a subset of novel marker genes which expressed differently between the JNP and Berkshire.