Miracle-dz/UniFAR-FTUs huggingface dataset:
1q42.12q42.2 Deletion in a Child with Midline Defects and Hypoplasia of the Corpus Callosum

Chromosome 1q42.12q42. 2 deletions are documented as “disease causing” and show overlapping phenotypes depending on the genes involved in the deletion. In this report, we detected a 5.8-Mb deletion encompassing the chromosome 1q42.12q42. 2 region in a 4-year-old boy with hypoplastic corpus callosum, epilepsy, developmental delay, microcephaly, cataract, cleft palate, and skeletal changes. The deletion was de novo. Genotype-phenotype correlations suggest that the major features of 1q42.12q42. 2 microdeletion were attributed to the genes with a high probability of loss-of-function intolerance score in this deletion, namely LBR, ENAH, ACBD3, LIN9, ITPKB, CDC42BPA, ARF1, TAF5L, GALNT2, SPRTN, and EGLN1 along with GNPAT.
Nomenclatural changes and selected lectotypifications in Castilleja (Orobanchaceae)

The following nomenclatural novelties are established in the genus Castilleja: C. affinis var. neglecta (Zeile) J.M. Egger, C. ambigua var. humboldtiensis (D.D. Keck) J.M. Egger, C. ambigua var. insalutata (Jeps.) J.M. Egger, C. bryantii var. socorrensis (Moran) J.M. Egger, C. campestris var. succulenta (Hoover) J.M. Egger, C. ctenodonta var. altorum (Standl. & Steyerm.) J.M. Egger, C. densiflora var. gracilis (Benth.) J.M. Egger, C. densiflora var. obispoënsis (D.D. Keck) J.M. Egger, C. exserta var. latifolia (S. Watson) J.M. Egger, C. exserta var. venusta (A. Heller) J.M. Egger, C. integrifolia var. chiapensis (Brandegee) J.M. Egger, C. integrifolia var. longibracteata (M. Martens & Galeotti) J.M. Egger, C. miniata var. fulva (Pennell) J.M. Egger, C. minor var. exilis (A. Nelson) J.M. Egger, C. minor var. stenantha (A. Gray) J.M. Egger, C. minor var. spiralis (Jeps.) J.M. Egger, C. moranensis var. cinerascens (Eastw.) J.M. Egger, C. pallida var. hyparctica (Rebrist.) J.M. Egger, C. pallida var. lapponica (Rebrist.) J.M. Egger, C. pallida var. saccata (Pennell) J. M. Egger, C. pallida var. yukonis (Pennell) J.M. Egger, C. pectinata var. purpusii (Brandegee) J.M. Egger, C. rubicundula var. lithospermoides (Benth.) J.M. Egger, C. subinclusa var. jepsonii (Bacig. & Heckard) J.M. Egger, and C. tenuiflora var. tancitaroana (G.L. Nesom) J.M. Egger. Lectotypifications are proposed for the following names: C. longibracteata M. Martens & Galeotti and C. spiralis Jeps. Complete synonymies are provided for all treated taxa.
Plasma Folate, Vitamin B6 and B12 in Their Relationship to the Presence of Probiotic Strain Bifidobacterium animalis subsp. Lactis HNO19 (DR10TM) Among Indonesian Pregnant Women in Their Third Semester

Introduction Vitamin B12 plays a role during pregnancy in maintaining folate metabolism. Together with folate and vitamin B6, B12 is involved as a coenzyme in DNA synthesis and various methylation reactions in developing embryos. This study aims to compare plasma folate, vitamin B6 and B12 blood levels with respect to the presence of probiotic strain Bifidobacterium animalis subsp. lactis HNO19 (DR10TM) among pregnant women in Indonesia. Methods: This study is part of a larger study entitled “Effects of Bifidobacterium animalis subsp. lactis HNO19 (DR10TM), inulin, and micronutrient fortified milk on fecal DR10TM, immune markers, and maternal micronutrients among Indonesian pregnant women. ” Further analyses were performed using independent-t test or Mann Whitney test, GLM-repeated measures and chi-square test, to compare folate, vitamin B6 and B12 intake and blood concentration during pregnancy with presence (n=22) and absence (n=55) subjects of fecal DR10TM at third trimester. Results: At the first trimesters there was no difference in plasma vitamin B6 and vitamin B12 levels between the two groups, based on the presence or absence of fecal DR10TM. However, at the second and third trimester, vitamin B6 blood concentration (p=0.034 and p=0.001) and vitamin B12 blood concentrations at the third trimester (p=0.035) were significantly higher in the fecal DR10TM positive group, while having a similar vitamin B6 and B12 intake. Conclusion: Consumption of pre- and probiotics during the periconceptional period may be a useful strategy for improving maternal vitamin B’s vitamins, especially vitamin B6 and B12 status and therefore provide benefits for the offspring’s quality of life.
A Model System for Rapid Identification and Functional Testing of Genes Involved in Early Breast Cancer Progression

S 1. Souter, L.H. , Postenka, C.O. , Andrews, J.D. , Rodenhiser, D.I. , Chambers, A.F. and Tuck, A.B. The role of S100A2 in the transition to the invasive phenotype as identified and characterized by the human 21T series 3D model of breast cancer progression. Metastasis Research Society-American Association for Cancer Research Special Conference on Metastasis and the Tumor Microenvironment, Philadelphia, PA. September 12-15, 2010. 2. Souter, L.H. , Leong, H.S. , Andrews, H.S. , Zhang, G. , Cook, A.C. , Rodenhiser, D.I. , Chambers, A.F. and Tuck, A.B. Genes identified by the human 21T series 3D model system are potentially involved in controlling the transitions between stages of early breast cancer progression. UWO Moffat Graduate Student Research Day, 2010. (Also UWO Pathology Research Day, 2010 and CIHR – Strategic Training Program in Cancer Research Technology Transfer and the Department of Oncology – Research and Education Day, UWO, 2010) 186
Pholcodine Containing Cough Medications as a Defense in the Court

Urine drug screens (UDSs) beyond the health care and criminal justice systems have increased throughout the past decade. A proper knowledge of medications that cross-react with UDSs are essential for accurate interpretation of the results. This study aims to evaluate one of the cough medications which may interfere with drug abuse testing and to highlight its plausibility as a defense in the court against dependence. Urine samples were collected from 30 patients presented to Mansoura Toxicology Unit with disturbed conscious level. Thorough history taking, routine laboratory investigations and toxicological analysis of urine for drugs of abuse by enzyme multiplied immunoassay (EMIT) and thin layer chromatography (TLC) were done. EMIT assay revealed that opiates, cannabinoids, benzodiazepines and barbiturates were positive in 100%, 76.7%, 36.6% and 20% of samples respectively. Confirmatory analysis demonstrated positive TLC of morphine in 96.7%, codeine in 43.3%, pholcodine and ephedrine in 53.3% of samples. The opiate positive results in persons taking pholcodine cough syrup proved the plausibility of this drug as a defense in the court in cases with legal and clinical forensic issues. However, each case must be considered on its own merits bearing in mind the need for caution when interpreting the analytical data especially when suspecting the use of pholcodine containing cough mixtures. It is advisable to search for pholcodine and ephedrine to exclude the possibility of taking antitussives containing these compounds. Further studies should be performed to assess the urgent need to schedule these medications. Meanwhile, these drugs should not be sold without a prescription and a warning against positive opiate assay must be written in their pamphlet.
Temporal Variation in the Availability of Mediterranean Food Resources: Do Badgers Meles meles Track Them?

The Mediterranean landscape of Serra de Grândola, Portugal, is one of many habitats inhabited by Eurasian badgers Meles meles, and in this area, the onset of food availability is seasonally predictable, but abundance is often temporally unpredictable and ephemeral. In our study, we investigated the responses of badgers to the temporal pattern of resource availability. We predicted that they would respond both to the seasonal timing of resource availability and to occasional pulses when food items are superabundant. We hypothesised that badgers' diet would reflect the seasonal onset of specific food resources, closely tracking food abundance, and that this tracking would reflect a relationship between the energetic value and water content of each resource and badger requirements at the time. To evaluate our predictions, we assessed the availability of the primary foods of badgers in Serra de Grândola (i.e. insects and fruits) over four years, and we analysed 120 faecal samples over one year to test for any congruence that might suggest tracking. Fruits and insects showed temporal fluctuations in peaks of availability that occurred on an annual basis, suggesting a temporal pulsing dynamic. Comparison of diet results with phenology and availability of food resources showed a high degree of overlap for practically all main items consumed. Moreover, the consumption of Coleoptera, olives Olea europaea and pears Pyrus bourgaeana appeared to be associated, but only partially, with their availability (rColeoptera = 0.21, P = 0.50; rolives = 0.36, P = 0.24; rpears = 0.20, P = 0.54); whilst acorns Quercus suber were closely tracked (racorns = 0.70, P = 0.01). Orthoptera were the only exception, with a negative relation between consumption and availability (rOthoptera = -0.31, P = 0.32). This tracking by badgers of primary resources with temporally differing peaks of availability and abundance appeared to involve trade-offs with energy and water requirements. Acorns peaked simultaneously with olives which, although not as abundant, had a higher fat content. Other minor fruits (e.g. loquats Eriobotrya japonica and figs Ficus carica) also seemed to be tracked; they were important resources for badgers during summer when air temperatures were high. These results have implications for understanding badger ecology in areas with temporally unpredictable resources.
PSC Partners Seeking a Cure Newsletter

A device for harmonizing a laser beam path with an observation path for a target includes a laser that generates a laser beam; a first optical element that directs a first part of the laser beam toward the target along the laser beam path while directing a second part of the laser beam toward a conversion device; and a second optical element that directs a converted beam from the conversion device to a sensor that receives the converted beam and an image from the target. The conversion device includes a photoluminescent material that converts the second part of the laser beam into a converted radiation having a wavelength within a spectral band of the sensor, and an optical assembly that focuses the second part of the laser beam into the photoluminescent material and that collects at least a portion of the converted radiation to form the converted beam. The photoluminescent material can include photoluminescent ions such as erbium ions, or a semiconductor material such as indium arsenide. The photoluminescent material can include two materials, wherein the first material has a photoluminescence lifetime greater than a pulse duration of the pulsed laser beam, and the second material has an emission spectrum of photoluminescence covering at least a portion of a sensitivity spectral band of the sensor. The conversion device can also include a non-linear material that frequency converts the second part of the laser beam into an intermediary radiation having a wavelength shorter than the laser beam, and where the photoluminescent material converts the intermediary radiation into the converted radiation.
The effects of heat stress in redox balance and inflammatory signaling in porcine skeletal muscle

Heat stress (HS) is a major concern for human health as well as for the swine industry. In 2012, HS resulted in the largest number of weather related human fatalities in the US. Animal production is also compromised as HS leads to poor sow performance, decreased carcass value and increased veterinary costs. However, the molecular effects of HS on skeletal muscle are still unclear. This study aimed to determine the extent to which HS disrupted redox balance and initiated an inflammatory response in oxidative and glycolytic porcine skeletal muscle. Moreover, we quantified the contribution of reduced feed intake to the disruption of redox balance and inflammatory signaling in porcine skeletal muscle. To achieve this, crossbred gilts were subjected to thermoneutral (TN; 20°C) or HS (35°C) conditions for 1, 3 or 7 days. In order to quantify the contribution of reduced feed intake to the HS response, a group of 7 day TN animals were pair fed (PFTN) to the 7 day HS group. One day of HS increased oxidative stress, measured as a 1.5 fold increase in MDA modified proteins in oxidative muscle but not glycolytic muscle. Further, HS significantly increased the activities of catalase and SOD in oxidative muscle. These data indicated that oxidative muscle was more sensitive to HS than glycolytic muscle. Further, inflammatory signaling was not increased as a result of the HS treatment in STR or STW muscle. Also, reduced feed intake did not significantly contribute to increased oxidative injury or inflammatory signaling in porcine skeletal muscle.
Key Components of Human Myofibre Denervation and Neuromuscular Junction Stability are Modulated by Age and Exercise

The decline in muscle mass and function with age is partly caused by a loss of muscle fibres through denervation. The purpose of this study was to investigate the potential of exercise to influence molecular targets involved in neuromuscular junction (NMJ) stability in healthy elderly individuals. Participants from two studies (one group of 12 young and 12 elderly females and another group of 25 elderly males) performed a unilateral bout of resistance exercise. Muscle biopsies were collected at 4.5 h and up to 7 days post exercise for tissue analysis and cell culture. Molecular targets related to denervation and NMJ stability were analysed by immunohistochemistry and real-time reverse transcription polymerase chain reaction. In addition to a greater presence of denervated fibres, the muscle samples and cultured myotubes from the elderly individuals displayed altered gene expression levels of acetylcholine receptor (AChR) subunits. A single bout of exercise induced general changes in AChR subunit gene expression within the biopsy sampling timeframe, suggesting a sustained plasticity of the NMJ in elderly individuals. These data support the role of exercise in maintaining NMJ stability, even in elderly inactive individuals. Furthermore, the cell culture findings suggest that the transcriptional capacity of satellite cells for AChR subunit genes is negatively affected by ageing.
Epidemiology of gastric cancer: global trends, risk factors and prevention

Gastric cancer remains one of the most common and deadly cancers worldwide, especially among older males. Based on GLOBOCAN 2018 data, stomach cancer is the 5th most common neoplasm and the 3rd most deadly cancer, with an estimated 783,000 deaths in 2018. Gastric cancer incidence and mortality are highly variable by region and highly dependent on diet and Helicobacter pylori infection. While strides in preventing and treating H. pylori infection have decreased the overall incidence of gastric cancer, they have also contributed to an increase in the incidence of cardia gastric cancer, a rare subtype of the neoplasm that has grown 7-fold in the past decades. A better understanding of the etiology and risk factors of the disease can help reach a consensus in approaching H. pylori infection. Dietary modification, smoking cessation, and exercise hold promise in preventing gastric cancer, while genetic testing is enabling earlier diagnosis and thus greater survival.
Outcomes of liver transplantation by insurance types in the United States.

OBJECTIVES The outcomes of liver transplantation may vary according to socioeconomic factors such as insurance coverage. The aim of this study was to assess the association between the type of insurance payer and outcomes of liver transplant candidates and recipients in the United States. STUDY DESIGN This was a retrospective cohort study of a national database. METHODS The US Scientific Registry of Transplant Recipients was used to select adults (≥18 years) wait-listed for liver transplantation in the United States (2001-2017); patients were followed until March 2018. RESULTS There were 177,862 liver transplant candidates with payer and outcomes data: The mean (SD) age was 54.1 (10.4) years, 64% were male, 39% had chronic hepatitis C with or without alcoholic liver disease (ALD), 19% had ALD alone, 17% had nonalcoholic steatohepatitis, and 16% had hepatocellular carcinoma. Fifty-nine percent were primarily covered by private insurance, 21% by Medicare, and 16% by Medicaid. After listing, 56% eventually received transplants (mean wait time of 229 days) and 22% dropped off the list. In multivariate analysis, adjusted for demographic and clinical factors, being covered by Medicare (odds ratio [OR], 0.81; 95% CI, 0.78-0.84) or Medicaid (OR, 0.76; 95% CI, 0.73-0.79) was independently associated with a lower chance of receiving a transplant (reference: private insurance). Posttransplant mortality was 11.6% at 1 year, 20.1% at 3 years, 26.8% at 5 years, and 41.6% at 10 years. Having Medicare (adjusted hazard ratio [aHR], 1.24; 95% CI, 1.17-1.31) or Medicaid (aHR, 1.14; 95% CI, 1.06-1.21) was independently associated with higher posttransplant mortality (P <.001) but not with the risk of graft loss (P >.05). CONCLUSIONS Liver transplant candidates covered by Medicare or Medicaid have poorer wait-list outcomes and higher posttransplant mortality.
Dental caries experience and oral hygiene status among hearing and speech impaired children of Karad city, Maharashtra, India

Introduction: Disability has often been described as a physiological deficit. Children with hearing impairment constitute one of the major population groups of physically challenged children. In India, the people are suffering from one or the other kind of disability which is equivalent to 2.1% of the country's population. Aims and Objectives: This study aims to assess the caries experience and oral hygiene status among the hearing and speech impaired children's. Materials and Methods: A cross-sectional survey was conducted among 100 participants aged 5–18 years attending a school for the sensory impaired children of Karad city, India. The participants were examined using Type III clinical examination. Oral hygiene status by oral hygiene index-simplified (OHI-S), Plaque index status and decayed, missing, and filled teeth/surface (DMFT/S) index were assessed. ANOVA, Chi-square test were used and P < 0.05 was considered statistically significant. Results: The largest component of DMFT/dmft was the decayed component, with a mean of 2.83 ± 0.94. P < 0.05 showing that this was statistically significant. The simplified calculus index and OHI-S index showed a significant difference between males and females of the study population (P < 0.05, S). Conclusion: There is an alarming situation for dental diseases among these hearing and speech impaired children. Hence, efforts should be made to encourage the parents and school teachers of these children to promote and improve their oral health.
Quantum-assisted CR directed encrypted biomedical signal transmission using knight's tour

Exchange of biomedical data through the internet has achieved tremendous success in the recent past, with the necessity of security in every transmission. It has become indispensable to replenish secrecy in biomedical data by avoiding the access of illegitimate users. To evade such disclosure of medical data, a proposal of encryption system along with Cognitive Radio (CR) has been employed. In this paper, CR has been programmed to choose the non-availability of the primary user and by automatically detecting the presence of available spectrum in the channel using Universal Software Radio Peripheral (USRP). Then using the identified free spectrum, encrypted medical data has been transmitted and exchanged between the authenticated users in rural healthcare units. The proposed encryption technique initiates Latin Square Image Cipher (LSIC) which offers double encryption by making use of two different random keys. Then the output has been subjected to a quantum computation encryption method in which Quantum Walks (QW) serves as a key generator which is meant for its natural nonlinear chaotic behaviour. QW is followed up by the disintegration of Knight’s tour permutation process which helps in tamper proofing and authentication. Finally, shear based affine transform has been employed to avoid imperfections in the medical data. The proposed scheme curtails the insecure medical image communication in biomedical research by creating an authenticated communication link among peers. Metrics such as Number of Pixel Changing Rate (NPCR), Unified Average Changing Intensity (UACI), correlation coefficients, chi-square tests, global and local entropies were estimated and compared with the available literature results.
Actin-Binding Proteins in Plant Cells

: Actinoccurs in all plant cells, as monomers, filaments and filament assemblies. In interphase, actin filaments form a cortical network, co-align with cortical microtubules, and extend throughout the cytoplasm functioning in cytoplasmic streaming. During mitosis, they co-align with microtubules in the preprophase band and phragmoplast and are indispensa ble for cell division. Actin filaments continually polymerise and depolymerise from a pool of monomers, and signal transduction pathways affecting cell morphogenesis modify the actin cytoskeleton. The interactions of actin monomers and filaments with actin-binding proteins (ABP5) control actin dynamics. By binding to actin monomers, ABPs, such as profilin, regulate the pool of monomers available for polymerisation. By breaking filaments or capping filament ends, ABPs, such as actin depoly-merising factor (ADF), prevent actin filament elongation or loss of monomers from filament ends. By bivalent cross-linking to actin filaments, ABPs, such as fimbrin and other members of the spectrin family, produce a variety of higher order assemblies, from bundles to networks. The motor protein ABPs,. which are not covered in this review, move organelles along ac tin filaments. The large variety of ABPs share a number of functional modules. A plant representative of ABPs with particular modules, and therefore particular functions, is treated in this review.
New PA/1220/98-like variant of infectious bronchitis virus in Poland

ABSTRACT The aim of the present study was to report the first detection of a new infectious bronchitis virus (IBV) variant in Polish commercial flocks which is completely different to any previously known in this region. In 2018, samples from Ross 308 breeding hens aged 35 weeks were delivered for IBV diagnosis. IBV presence was detected, but all attempts to amplify the S gene fragment were negative. The field material was analysed using the Illumina MiSeq platform and a 1073-nt fragment of the S1 coding region was obtained. The gCoV/ck/Poland/516/2018 strain shared only 52.7–58.1% nucleotide identity to any known genotype of IBV and shared the highest identity of 81.4% to the unique North American PA/1220/98 variant. Based on the obtained sequence, a specific molecular test was constructed and used for screening of chicken samples from 35 field cases delivered to our laboratory between 2018 and 2019 for IBV diagnosis. Application of this test enabled detection of another three chicken flocks as positive for this new strain. All positives were identified in commercial layers with egg production problems. To date, the virus has not been detected in broiler chickens. Taking into account the proposed criteria for the definition of a new IBV genotype or lineage, it seems that the detected viruses in Poland, together with the unique North American PA/1220/98 variant, may be classified as separate lineages/genotype in the new IBV classification. RESEARCH HIGHLIGHTS The new IBV variant is distantly related to other known GI–GVII IBV genotypes/lineages. It affects long-lived birds causing egg production problems. The detected IBV and the unique North American PA/1220/98 variant are candidates for separate lineages in the new GVIII genotype.