Proposal of an Algorithm to Early Detect Attenuated Type I Mucopolysaccharidosis (MPS Ia) among Children with Growth Abnormalities

Background and Objectives: Diagnostic delay is common in attenuated Mucopolysaccharidosis Type I (MPS Ia) due to the rarity of the disease and the variability of clinical presentation. Short stature and impaired growth velocity are frequent findings in MPS Ia, but they rarely raise suspicion as paediatric endocrinologists are generally poorly trained to detect earlier and milder clinical signs of this condition. Materials and Methods: Following a consensus-based methodology, a multidisciplinary panel including paediatric endocrinologists, paediatricians with expertise in metabolic disorders, radiologists, and rheumatologists shared their experience on a possible clinical approach to the diagnosis of MPS Ia in children with short stature or stunted growth. Results: The result was the formation of an algorithm that illustrates how to raise the suspicion of MPS Ia in a patient older than 5 years with short stature and suggestive clinical signs. Conclusion: The proposed algorithm may represent a useful tool to improve the awareness of paediatric endocrinologists and reduce the diagnostic delay for patients with MPS Ia.

EUPHORIA DAVIDII SUBILS (EUPHORBIACEAE) IN FLORA OF RAILWAY TRACKS OF DNIESTER BAY BAR

Aim. Anthropogenically transformed ecotopes act as a centre for existance of many adventive species. The distribution of North-American species Euphorbia davidii subsp. Poinsettia across various continents is often attributed to the export of grain. For some time scientists have been bringing up the issue about identification of plants E. davidii in new territories, because the species is morphologically similar to E. dentata agg. The species E. davidii is characterised by a high invasive potential, it is a neophyte. In Ukraine the species is represented by separate localities almost throughout the country. It is related to sectors of ports, railway tracks, and abandoned lands. Methods. In the year 2021, by means of route method, in sectors of railway tracks of the Dniester bay bar, between the railway stops Karolina-Buhas and Soniachna (total length is up to eight kilometers) seven localities of E. davidii were distinguished; the coordinates of the locations are listed in the publication. The examined ecotopes are characterised by a crushed stone substratum, with higher temperatures, and also by specific vibrational, insolational and hydrological modes. Results. Both inconsiderable in number of plants localities (32 exemplars) and zones, where the number of plants reaches over 2000 are represented. The extent of habitats ranges from 2 to 20 meters. The height of particular, the most developed individuals constituted 20 cm. As a rule, in the inter-rail space there is a considerably smaller number of plants, however, they are better developed, well-branched and have more inflorescences with fruits. Conclusions. A number of plants from the southern slopes of the railways is typically bigger, however, the plants on the southern slopes (in comparison with the northern ones) are worse developed, branch out less and, at the time of conducting the research were represented by a smaller number of generative individuals. In sandy sectors of the bay bar adjoining the railway tracks the plants E. davidii were almost not noticed. The individuals found in the above-mentioned sectors are characterised by stunted growth, a single stem, almost did not bloom, and did not produce seeds.

Microbial Communities Associated With Stunted Growth Syndrome In Penaeus Vannamei Farming

Purpose: Stunted/slow growth syndrome is one of the yield-limiting diseases in Penaeus vannamei farming. Limited information is available on the aetiology of this condition, which needs to be studied to devise prophylactic measures to minimise the production losses. Amongst the factors that influence this condition, microbial communities in the growing environment play an important role. This study aimed at understanding major microbial associations of affected and healthy pond waters through shotgun metagenomics.Method: The water samples were filtered through vacuum filtration to extract suspended microbes. Subsequently, DNA was isolated from the filtrate using PowerSoil® DNA Isolation Kit. Libraries prepared from isolated DNA were sequenced using the shotgun metagenomic method on the Illumina HiSeq platform. The microbial profiling and their functional prediction of the shotgun metagenome sequences were carried out using stand-alone versions of Kaiju, OmicsBox respectively. Results: The taxonomic classification results revealed that species of Oceanospirillum, and vibrio were high in the disease sample, while Rhodobacteraceae bacterium and Neptunomonas were high in the healthy sample. The alpha diversity analysis showed slightly higher diversity in the healthy sample compared to the disease infected. The taxonomic biomarkers for healthy and infected states reported in previous studies were also observed in this study. The major functional associations of both the healthy and infected groups include amino acid transport and metabolism, cell wall/membrane/envelope biogenesis, and energy production and conversion. Conclusion: The study identified major taxonomical and functional associations of ponds affected and unaffected with stunted growth syndrome. These associations significantly varied between the samples, indicating dysbiosis of the microbial profiles in the pond waters. This dysbiosis could be a potential cause for the manifestation of stunted growth syndrome. Microbial associations along with other pond environmental factors need to be further explored for an in-depth understanding of stunted growth syndrome.

Prevalence of Undernutrition and Its Associated Factors in Tribal Population of Gadchiroli (Vidarbha Region)

Introduction: Under nutrition can be well defined as a result of insufficient food intake, living life with hunger and repeated infection. It comprises being underweight for one’s age, stunted growth where subjects are too short for one’s age, hazardously thin wasted body and deficient in vitamins and minerals also known as micronutrient malnutrition. Aim: Prevalence Of Under nutrition And Its Associated Factors In Tribal Population Of Gadchiroli at Aheri (Ct), Gadchiroli (Vidarbha Region)District, Maharashtra. Materials And Methods: Family must consists of 1 children between ages of 1-6 years and their mothers must be available and willing to be interviewed were incorporated in the sample. Unwilling mothers were excluded. Three hundred study participants were included in the study. Results: The response rate was 100%. Among all participants, 153 (51%) and 147 (49%) were females and males, respectively. Out Of the total parents, 173(57.66%) could not read, 56 (18.66%) can only read and write, 47(15.66%) of them has completed primary education and 24(8%) has completed secondary school. Out of 300 participants, 123 (41%) had monthly income of less than 750 rupeees. Conclusion: Under nutrition was high among children below six years of age in gadchiroli, Aheri CT, Gadchiroli. Overall under nutrition was high found to be high and proper management should be done.

Recent spruce (Picea abies) treeline ecotonal progression since the late1980s in the Swedish Scandes-a repeat photographic narration and analysis

This study reports a case of climate-mediated transformation and physiognomic progression of the Norway spruce (Picea abies) treeline ecotone since the mid-1990s in the Swedish Scandes. The methods include repeat photography and foliation estimates of old-established clonal spruces. An air and soil temperature nadir by the 1980s had caused extensive needle and shoot mortality, evident at the landscape-scale. Subsequent winter and summer temperature rises induced a striking canopy recovery, including densification and vertical growth. Release from low soil temperature stress appears as instrumental for canopy progression and shift from stunted growth to erect tree forms. Seed-based regeneration of new individuals has been virtually nil and the ecotone appears to be spatially stable. Ongoing ecotonal shifts has the character of growth form transformations in accordance with climatic conjunctures.

Endoplasmic reticulum stress as a key mechanism in stunted growth of seawater rainbow trout (Oncorhynchus mykiss)

Background Rainbow trout (Oncorhynchus mykiss) is a salmonid species with a complex life-history. Wild populations are naturally divided into freshwater residents and sea-run migrants. Migrants undergo an energy-demanding adaptation for life in seawater, known as smoltification, while freshwater residents display these changes in an attenuated magnitude and rate. Despite this, in seawater rainbow trout farming all fish are transferred to seawater. Under these circumstances, weeks after seawater transfer, a significant portion of the fish die (around 10%) or experience growth stunting (GS; around 10%), which represents an important profitability and welfare issue. The underlying causes leading to GS in seawater-transferred rainbow trout remain unknown. In this study, we aimed at characterising the GS phenotype in seawater-transferred rainbow trout using untargeted and targeted approaches. To this end, the liver proteome (LC-MS/MS) and lipidome (LC-MS) of GS and fast-growing phenotypes were profiled to identify molecules and processes that are characteristic of the GS phenotype. Moreover, the transcription, abundance or activity of key proteins and hormones related to osmoregulation (Gill Na+, K + –ATPase activity), growth (plasma IGF-I, and liver igf1, igfbp1b, ghr1 and ctsl) and stress (plasma cortisol) were measured using targeted approaches. Results No differences in Gill Na+, K + –ATPase activity and plasma cortisol were detected between the two groups. However, a significant downregulation in plasma IGF-I and liver igf1 transcription pointed at this growth factor as an important pathomechanism for GS. Changes in the liver proteome revealed reactive-oxygen-species-mediated endoplasmic reticulum stress as a key mechanism underlying the GS phenotype. From the lipidomic analysis, key observations include a reduction in triacylglycerols and elevated amounts of cardiolipins, a characteristic lipid class associated with oxidative stress, in GS phenotype. Conclusion While the triggers to the activation of endoplasmic reticulum stress are still unknown, data from this study point towards a nutritional deficiency as an underlying driver of this phenotype.

CFM6 is an Essential CRM Protein Required for the Splicing of nad5 Transcript in Arabidopsis Mitochondria

Plant CRM domain-containing proteins are capable of binding RNA to facilitate the splicing of group I or II introns in chloroplasts, but their functions in mitochondria are less clear. In the present study, Arabidopsis thaliana CFM6, a protein with a single CRM domain, was expressed in most plant tissues, particularly in flower tissues, and restricted to mitochondria. Mutation of CFM6 causes severe growth defects, including stunted growth, curled leaves, delayed embryogenesis, and pollen development. CFM6 functions specifically in the splicing of group II intron 4 of nad5, which encodes a subunit of mitochondrial complex I, as evidenced by the loss of nad5 intron 4 splicing and high accumulation of its pretranscripts in cfm6 mutants. The phenotypic and splicing defects of cfm6 were rescued in transgenic plants overexpressing 35S::CFM6-YFP. Splicing failure in cfm6 also led to the loss of complex I activity and to its improper assembly. Moreover, dysfunction of complex I induced the expression of proteins or genes involved in alternative respiratory pathways in cfm6. Collectively, CFM6, a previously uncharacterized CRM domain-containing protein, is specifically involved in the cis-splicing of nad5 intron 4 and plays a pivotal role in mitochondrial complex I biogenesis and normal plant growth.

Application of Health Belief Model Theory on Prevention of Stunting in Toddlers Through Nutritional Behavior

Stunting is a chronic condition that describes stunted growth due to long-term malnutrition. Incidence of stunting is caused by not optimal nutrition. The purpose of this study in general was to find the effect of the Health Belief Model theory on effort to prevent stunting in toddlers through nutritional fulfillment behavior. The research is a quantitative study with an observational method and a cross sectional approach. The sample was 243 stunting mothers. The independent variables are perceived susceptibility, severity, barriers, cues to action, perceived benefit and self efficacy. Nutritional fulfillment behavior as an intermediate variable and stunting prevention as a dependent variable. The result show that simultaneously there was an effect of variabel X on Y with a significance value of 0,000 and a large effect of 10,2%. And simultaneously shows that there is an effect of variable X and Y of Z with a significance value of 0,000 and a large effect of 12,8%. Data analysis used path analysis. Simultaneousy, there is an effect of the application of Health belief model theory on effort to prevent stunting in toddlers through nutritional fulfillment behavior.

Literature Review : Hubungan Pola Makan Dengan Kejadian Anemia Pada Remaja Putri

Anemia in adolescents can have an impact on decreased work productivity, stunted growth, the body is susceptible to infection, resulting in reduced body fitness, decreased enthusiasm for learning and achievement. The onset of anemia can be caused by wrong, irregular and unbalanced dietary intake with adequate nutritional sources what the body needs. The purpose of this study was to determine the correlation between the pattern and the incidence of anemia among female adolescents using a meta-analysis approach. This type of research is a meta-analysis research with a systematic review method, using 5 research journals as data sources that will be used in compiling the results consisting of 1 international journal, 4 national journals accredited by Sinta 4 and indexed by Garuda. The results of the study from a review of 5 articles showed that there was a relationship between diet and anemia in adolescent girls. The similarities of the five journals are in terms of type of research, research methods, data analysis, adolescent research respondents, and research instruments (in the form of a questionnaire). The results of the review through 5 related articles, most of the results showed that the diet of young women was not good and experienced anemia. The differences between each journal were the sampling technique, and the question indicators in the questionnaire were different from one journal to another. Abstrak Anemia pada remaja dapat berdampak pada menurunnya produktivitas kerja, pertumbuhan terhambat, tubuh mudah terinfeksi, mengakibatkan kebugaran tubuh berkurang, semangat belajar dan prestasi menurun.Timbulnya anemia dapat disebabkan oleh asupan pola makan yang salah, tidak teratur dan tidak seimbang dengan kecukupan sumber gizi yang dibutuhkan tubuh. Tujuan penelitian ini untuk mendapatkanhubungan polamakandengan kejadian anemiapadaremajaputridengan menggunakan pendekatan meta analisis.Jenis penelitian adalah penelitian meta analisis dengan metode literature review, menggunakan 5 jurnal penelitian sebagai sumber data yang akan digunakan dalam penyusunan hasil terdiri dari 1 jurnal internasional, 4 jurnal nasional terakreditasi Sinta 4 dan terindex Garuda. Hasil penelitian dari review 5 artikel menunjukkan bahwa ada hubungan pola makan dengan kejadian anemia pada remaja putri. Persamaan dari kelima jurnal yaitu dari segi jenis penelitian, metode penelitian, analisis data, respondenpenelitianyaituremaja, dan inttrumen penelitian (berupa kuesioner). Hasil review melalui 5 artikel terkait, sebagian besar hasil penelitian menunjukkan pola makan remaja putri tidak baik dan mengalami anemia.Perbedaan dari masing-masing jurnal yaitu dari teknik pengambilan sampel, dan indikator pertanyaan dalam kuesioner antara satu jurnal dengan lainnya berbeda.