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SONOGRAPHIC IDENTIFICATION OF UTERINE LEIOMYOMAS AND THEIR IMPACT ON FERTILITY
Anum Sarwar

Anum Sarwar

and 4 more

January 06, 2021
ABSTRACT Context: Fibroids are the most common tumors of the female genital tract.fibroids are of benign growth develop in the muscular wall of the uterus composed primarily of smooth muscles. Fibroids are known by different other names like leiomyoma, leiomyomata, myoma and fibromyoma. It can be located in different part of uterus so named them according to their location in uterus. Fibroids vary in size from such small like a pea to as large to 10 inches. The relationship of fibroids with infertility is controversial to find an impact of uterine fibroids on infertility. Ultrasonography is a Gold Standard modality for identification of uterine fibroids. The purpose of this Retrospective study is to review fibroids and their different types and their impact on fertility. Fibroids effect females of every age group and their management are necessary for increase fertility outcomes. Objective: A systematic review is made with help of different retrospective studies published from time duration 2005 to 2020 on sonographic identification of uterine leiomyomas and their impact on fertility. Evidence acquisition: Relevant databases on uterine fibroid relation and impact on infertility was collected from MEDLINE, PubMed, Cochrane Library from 2005 to 2020. Randomised control trials, prospective observational studies, retrospective matched studies from well-defined registries are taken. Conclusion: Uterine fibroids having an impact on fertility its incidence increased with age.submucosal fibroids cause infertility, intramural fibroids impact on fertility is controversial while subserosal fibroids don’t have an impact on fertility. Key words: Leiomyomas, Infertility, Abdominal Ultrasound, Transvaginal Ultrasound, Myomectomy, Fertility
Groundwater Flow Path and Evolution in the Nagqu Basin, Northeast Tibet Plateau
Xiaoyan Gong
Baisha Weng

Xiaoyan Gong

and 5 more

November 11, 2020
Permafrost groundwater is characterized by a unique circulation, which is due to global warming and permafrost degradation. Understanding the groundwater flow path and evolution is essential for the sustainable management of water resources in alpine regions. In this study, the flow and evolution of groundwater in the Nagqu River Basin in the Qinghai–Tibet Plateau were studied using hydrochemistry, 18O, 2H and 3H analyses. The results reveal that water–rock interaction, including the dissolution of the sulfate minerals calcite and dolomite, is the main factor affecting the hydrochemical evolution. In mountainous areas, it is also affected by the dissolution of halite. However, in the valley plain, it is affected by the dissolution of sodium, evaporation concentration, and cation exchange reaction. Superpermafrost water is a mixture of modern and ancient water. From the high-altitude recharge area to the plain, the renewal rate decreases from 10.48% to 0.61% and the mean transit time increases from less than 6 to 20–35 y. In mountainous areas, groundwater is mainly recharged by the infiltration of glacier meltwater, snow meltwater, and highland precipitation, whereas deep fissure water replenishment occurs in fault areas. The main drainage modes are evaporation and overflow into springs. This study discusses fundamental mechanisms controlling the groundwater system in alpine areas and provides a theoretical basis for studying the groundwater circulation in similar systems.
Soil moisture controlled the variability of air temperature and oasis effect in a lar...
Xingming Hao
Haochao Hao

Xingming Hao

and 2 more

November 11, 2020
Soil moisture plays a significant role in land-atmosphere interactions. Changing fractions of latent and sensible heat fluxes caused by soil moisture variations can affect near-surface air temperature, thus influencing the cooling effect of the oasis in arid regions. In this study, the framework for the evaporative fraction (EF) dependence on soil moisture is used to analyze the impacts of soil moisture variation on near-surface air temperature and the oasis effect. The results showed that the contribution rate of soil moisture to EF was significantly higher than that of EF to temperature. Under the interaction of temperature sensitivity to EF and EF to soil moisture, the ∂T/∂ϴ presented a similar tempo-spatial variation with both of the above. It was most significant in oasis areas during summer (−1.676), while it was weaker in plain desert areas during the autumn (−0.071). In the study region, the effect of soil moisture variation on air temperature can reach 0.018–0.242 K for different land-cover types in summer. The maximum variation of soil moisture in summer can alter air temperature by up to 0.386 K. The difference in temperature variability between the oasis and desert areas promoted the formation of the oasis effect. For different oasis, the multi-year average oasis cold effect index (OCI) ranged from −1.36 K to −0.26 K, while average summer OCI ranged from −1.38 K to −0.29 K. The lower bound of the cooling effect of oasis ranged from −4.97 to −1.69 K. The analysis framework and results of this study will provide a new perspective for further research on the evolution process of the oasis effect and water-heat balance in arid areas.
The 6th amino acid mutation of Rep protein had no effect on PCV2b but enhanced PCV2d...
Xiaoyan Wu
Shuo Wang

Xiaoyan Wu

and 12 more

November 11, 2020
Porcine circovirus type 2 (PCV2) is the etiological agent that primary cause of post-weaning multisystemic wasting syndrome (PMWS). The major genotypes, PCV2a, PCV2b and PCV2d, are highly prevalent, but now replaced with 2b and 2d in swine population in worldwide. Rep protein is the key protein for viral replication. Compared a large number of Rep protein amino acid (aa) sequences, we found that there were three sites with regular changes between 2b and 2d.In order to analyze the effect of key sites on viral replication, we used site-directed mutagenesis to mutate the 6th aa of Rep (alternations with asparagine and serine) between PCV2b and PCV2d, Two wild-type and two mutant viruses infectious clones were rescued by non-contaminated porcine kidney-15 (PK-15) cells. Real-time quantitative PCR and a one-step growth curve were used to determine viral load to assess the replication of rescued viruses. The results showed that there was no significant difference between the PCV2b mutation and the wild-type PCV2b virus in vitro, while the mutation ofPCV2d enhanced viral replication.
Fever of unknown origin (FUO) on a land on cross-roads between Asia and Europa; a mul...
ERCAN YENİLMEZ
Deniz Kakalicoglu

ERCAN YENİLMEZ

and 18 more

November 11, 2020
Aims: The differential diagnosis of Fever of Unknown Origin (FUO) is still a major clinical challenge despite the advances in diagnostic procedures. In this multicenter study, we aimed to reveal FUO etiology and factors influencing the final diagnosis of FUO in Turkey. Methods: A total of 214 patients with FUO between the years 2015-2019 from 13 tertiary training and research hospitals were retrospectively evaluated. Results: The etiologic distribution of FUO was infections (44.9%), malignancies (15.42%), autoimmune/inflammatory (11.68%) diseases, miscellaneous diseases (8.41%) and undiagnosed cases (19.62%). Brucellosis (10.25%), extrapulmonary tuberculosis (6.54%) and infective endocarditis (6.54%) were the most frequent three infective causes. Solid malignancies (7.1%) and lymphoma (5.6%), adult-onset still’s disease (6.07%) and thyroiditis (5.14%) were other frequent diseases. The etiologic spectrum did not differ in elderly (p<0.05). Infections were less frequent in Western (34.62%) compared to Eastern regions of Turkey (60.71%) (p< 0.001, OR: 0.31, 95% Cl: 0.19 to 0.60). The ratio of undiagnosed etiology was significantly higher in elderly (p: 0.046, OR: 2.34, 95% Cl: 1.00 to 5.48) and significantly lower in Western Turkey (p: 0.004, OR: 3.07, 95% Cl: 1.39 to 6.71). Conclusion: Brucellosis, extrapulmonary tuberculosis and infective endocarditis remain to be the most frequent infective causes of FUO in Turkey. Solid tumors and lymphomas, AOSD and thyroiditis are the other common diseases. The etiologic spectrum did not differ in elderly, on the other hand, infections were more common in Eastern Turkey. A considerable amount of etiology remained undiagnosed despite the state-of-the-art technology in healthcare services.
Arabidopsis sirtuins and poly ADP ribose polymerases regulate gene expression in the...
Jun Hyeok Kim
Laura Bell

Jun Hyeok Kim

and 7 more

November 11, 2020
Nicotinamide-adenine dinucleotide (NAD) is involved in redox homeostasis and acts as a substrate for NADases, including poly (ADP-ribose) polymerases (PARPs) that add poly (ADP-ribose) polymers to proteins and DNA, and sirtuins that deacetylate proteins. Nicotinamide, a biproduct of NADases increases circadian period in both plants and animals. In mammals, the effect of nicotinamide on circadian period might be mediated by the PARPs and sirtuins because thy directly bind to core circadian oscillator genes. We have investigated whether PARPs and sirtuins contribute to the regulation of the circadian oscillator in Arabidopsis. We found no evidence that PARPs and sirtuins regulate the circadian oscillator of Arabidopsis or are involved in the response to nicotinamide. RNA-seq analysis indicated that PARPs regulate the expression of only a few genes, including FLOWERING LOCUS C. However, we found profound effects of reduced sirtuin 1 expression on gene expression during the day but not at night, and an embryo lethal phenotype in knockouts. Our results demonstrate that PARPS and sirtuins are not associated with NAD regulation of the circadian oscillator and that sirtuin 1 is associated with daytime regulation of gene expression.
EXISTENCE RESULTS FOR A NON LINEAR BOUNDARY VALUE PROBLEM ARISING IN KINETIC THEORY O...
Hicham Maadan

Hicham Maadan

November 11, 2020
A document by Hicham Maadan. Click on the document to view its contents.
A new amplitude-frequency formula for non-conservative oscillators
Andres Garcia

Andres Garcia

November 11, 2020
This paper formalize the existence’s proof of first-integrals for any second order ODE, allowing to discriminate periodic orbits. Up to the author’s knowledge, such a powerful result is not available in the literature providing a tool to determine periodic orbits/limit cycles in the most general scenario.
Arbuscular mycorrhizae fungi community structures in Conservation Agriculture soils a...
Kumbirai Musiyiwa
Brandon Bushe

Kumbirai Musiyiwa

and 3 more

November 11, 2020
This study investigated AMF community response to tillage and soil amendment regimes from rhizospheric soil of maize roots at 0-10 cm and 10-20 cm at Hunyani farm, Zimbabwe. Two tillage systems (conservation agriculture: CA) and conventional tillage: CT), and six soil fertility amendments [Control (C), High fertilizer (HF-120), Low fertilizer (LF-60), Manure (M), Manure + low fertilizer (MLF-60), Manure + 60 kg N ha-1 (M-60)] were laid in a split plot design with three replications. Twelve morpho-species were identified at the study site. Species richness was highest for CA+C (11.7) and CA+ M (11.7) at 10-20 cm depth. Control plots of CT had more diverse AMF species in the surface layers (Shannon-Weaver index = 2.12) compared to the subsurface soil layer (Shannon-Weaver index = 1.86). The tillage x fertility interaction showed that in CA, A. dilatata spore populations were higher in MLF-60 amended plots than all other plots, followed by LF-60 plots, while in CT systems MLF-60 promoted higher spore populations than all other treatments. All plots amended with manure plus inorganic fertilizer had lower (P<0.05) G. clavisprum spore populations than C, HF-120 and M amended plots under both CA and CT, however LF-20 promoted higher populations than in plots with a combination of manure and inorganic fertilizer in CT only. Tillage x fertility amendment x depth interactions (P<0.05) were observed on A. denticulate, A. schenkii, and C. Luteum, E. infrequens, R. clarus, and S. calospora spore populations. Medium term effects of CA+ manure, and CA + no amendments may include increasing species richness and diversity. Application of relatively large amounts of inorganic fertilizers increase populations of C. luteum populations in CA and decrease in CT. Manure reduces populations of some species e.g. C. luteum in both CA and. CT.
Preprints in Chemistry: An Exploratory Analysis of Differences with Journal Articles
Mario Pagliaro

Mario Pagliaro

November 11, 2020
The exploratory analysis of the differences between preprints and the corresponding peer reviewed journal articles for ten studies first published on ChemRxiv and on Preprints suggests outcomes of relevance for chemistry researchers and educators. The full transition to open science requires to undertake new educational work of doctoral students and young researchers on scholarly communication in the digital age. Learning that preprints differ only slightly in comparison to peer reviewed journal articles for all the basic sciences further supports the widespread adoption of preprints amid research chemists.
Interactive effects of body mass changes and species-specific morphology on flight be...
Nina Dehnhard
Andrew Klekociuk

Nina Dehnhard

and 2 more

November 11, 2020
For procellariiform seabirds, wind and body morphology are crucial determinants of flight costs and flight speeds. During chick-rearing, parental seabirds commute frequently to provision their chicks, and their body mass changes between outbound and return legs. In Antarctica, the typical diurnal katabatic winds which blow stronger in the mornings, form al natural experiment to investigate flight behaviours in response to wind conditions. We GPS-tracked three closely related species of sympatrically breeding Antarctic fulmarine petrels which differ in wing loading and aspect ratio and investigated their flight behaviour in response to wind and changes in body mass. All three species reached higher flight speeds under stronger tailwinds, especially on return legs from foraging, when wing loading was increased since birds carried food for their chicks. Flight speeds decreased under stronger headwinds. Antarctic petrels (Thalassoica antarctica; intermediate body mass, highest wind loading and aspect ratio) responded stronger to changes in wind speed and direction than cape petrels (Daption capense; lowest body mass, wing loading and aspect ratio) or southern fulmars (Fulmarus glacialoides; highest body mass, intermediate wing loading and aspect ratio). Birds did not adjust their flight direction in relation to wind direction nor maximum distance to nest when they encountered strong headwinds on their outbound commutes. However, birds appeared to adjust the timing of commutes to those hours of the day when headwinds were weakest and they were more likely to encounter favourable tail- and crosswinds. Despite these adaptations to the predictable diurnal wind conditions, birds frequently encountered unfavourably strong headwinds, possibly as a result of weather systems disrupting the katabatics coupled with the need to feed. How the predicted decrease in Antarctic near-coastal wind speeds over the remainder of the century will affect flight costs and breeding success which ultimately drives population trajectories remains to be seen.
Trophic niche overlap between sympatric harbour seals (Phoca vitulina) and grey seals...
Yann Planque
Jérôme Spitz

Yann Planque

and 4 more

November 11, 2020
Competition between the sympatric harbour (Phoca vitulina) and grey seals (Halichoerus grypus) is thought to underlie some recent local declines of the former while the population of the latter remains stable or increases. A better understanding of the interactions between these two species is critical to elucidate current changes. This study aims at identifying and quantifying the niche overlap between harbour and grey seals at their Southern European limit range, in the baie de Somme (Eastern English Channel, France), in a context of exponential increase in the number of resident harbour seals and visiting grey seals. Isotopic niche overlap was quantified between both species using whisker δ13C and δ15N isotopic values, taking intra- and interindividual variability into account. Dietary overlap was quantified from scat contents using hierarchical clustering. A high degree of trophic niche overlap was identified between both species. The narrower isotopic niche of harbour seals was nested within that of grey seals (58.2% [CI95%: 22.7-100%] overlap). Six diet clusters were identified from scat content analysis. Two of them gathered most of harbour seals’ scats (85.5 % [80.3-90.2%]) and around half of grey seals’ ones (46.8% [35.1-58.4%]) that almost exclusively contained benthic flatfish. Consumption of this type of prey was identified here to be the root cause of trophic overlap. This highlighted the potential for competition between the two species at their Southern European limit range, linked to foraging on benthic flatfish, in coastal waters close to their haulout sites, especially during spring/summer. We suggest that (1) interspecific competition for prey could occur/increase in the future if the number of grey and harbour seals still increase and/or if flatfish supply decrease in this area, and (2) harbour seals would be disadvantaged in such a case if they do not adapt, as being specialised on flatfish at the colony scale.
Anterolateral papillary muscle rupture as a rare complication of unusual infective en...
Salma Charfeddine
Syrine Triki

Salma Charfeddine

and 5 more

November 11, 2020
The rupture of mitral papillary muscles is a very rare complication of the infective endocarditis. We report a case of anterolateral papillary muscle rupture resulting in severe mitral regurgitation, due to infective endocarditis in a young man without previous heart disease.
Odor of the achlorophyllous plant's seeds induce the seed-dispersing ants
Mikihisa Yamada
Masaru Hojo

Mikihisa Yamada

and 2 more

November 11, 2020
Seed dispersal by ants is one of the important means of migration for adherent plants. Although many myrmecochorous plants have seed with elaiosome which is nutritional reward for ants, some seeds without elaiosomes are also dispersed by ant species. We tested seed dispersal by ants using the achlorophyllous and myco-heterotrophic herbaceous plant Monotropastrum humile, whose seeds do not have elaiosome, and require a fungal host for germination and ultimately survival. We performed a bioassay using seeds of M. humile and the ant, Nylanderia flavipes, to demonstrate ant-mediated seed dispersal. We also analyzed the volatile odors emitted from M. humile seeds, and conducted bioassays using dummy seeds coated with seed volatiles. Although elaiosomes were absent from the M. humile seeds, the ants carried them to their nest. They also carried the dummy seeds coated with the seed volatile mixture to the nest, and left some dummy seeds inside the nest and discarded the rest of the dummy seeds outside the nest with a bias towards locations with moisture conditions conducive to germination. We concluded that seeds of the myco-heterotrophic, herbaceous species were dispersed by the ants, and that seed odors were sufficient to induce directed dispersal even without elaiosomes. The flesh-fruit producing genus Monotropastrum have probably evolved from the related anemochorous genus Monotropa, which produces capsule fruit. This transformation from anemochory to myrmecochory, presents a novel evolutionary pathway towards ant-mediated seed dispersal in an achlorophyllous plant.
Cost-effectiveness of neoadjuvant versus adjuvant chemotherapy for cT2-4N0-1 non-smal...
Dongdong Wu
Juan Li

Dongdong Wu

and 4 more

November 11, 2020
Objective: The choice between neoadjuvant chemotherapy (NAC) and adjuvant chemotherapy (AC) remains controversial in the treatment of non-small cell lung cancer (NSCLC). There is no significant difference in NAC and AC’s effectiveness. We investigate the cost-effectiveness of NAC versus AC for NSCLC. Method: A decision tree model was designed from a payer perspective to compare NAC and AC treatments for NSCLC. Parameters included overall survival (OS), surgical complications, chemotherapy adverse event (AE), treatment initiation probability, treatment time frame, treatment cost, and quality of life (QOL). Sensitivity analyses were performed to characterize model uncertainty in the base cases. Result: With the same overall survival, AC treatment strategy produces a cost saving of ¥618.90 and an incremental quality-adjusted life-years (QALY) of 0.10 years per patient. If median OS of NAC is 1.4 months more than AC, NAC would be cost effective (CE) at a ¥35446/QALY threshold. The model was robust enough to handle variations to all input parameters except the overall survival. In the probability sensitivity analysis, AC remained dominant in 54.6% of simulations. Conclusion: The modeled cost effectiveness analysis indicates that with operable NSCLC, AC treatment is more cost effective compared to NAC. If NAC provides a longer survival advantage, this treatment strategy may be cost-effective. The OS is the main factor that influences cost-effectiveness analysis.
Parental Intentions to Wean Following Advances in Primary Prevention of Food Allergy
Ailish Breathnach
Rosemary Geoghegan

Ailish Breathnach

and 2 more

November 11, 2020
A document by Ailish Breathnach. Click on the document to view its contents.
Silver Russell syndrome in a  preterm girl with 8q12.1 deletion encompassing PLAG1.
José Ramón Fernández-Fructuoso
Cristina De la Torre-Sandoval

José Ramón Fernández-Fructuoso

and 7 more

March 23, 2021
Silver Russell syndrome (SRS) is a congenital disorder characterised by intrauterine growth retardation (IUGR), feeding difficulties and postnatal growth retardation. In a small number of cases PLAG1 variants have been described (OMIM #618907). PLAG1 haploinsufficiency decreases IGF2 expression and produces a Silver Russell syndrome like phenotype. Here, we describe the phenotype and molecular features of a 26 months girl with clinical features of SRS and a de novo 2.1 Mb deletion encompassing PLAG1 is reported in association with clinical features suggestive of SRS.
The Role of Follicle-Stimulating Hormone in Vascular Dysfunction Observed in Hematopo...
Erica Roelofs
Donald Dengel

Erica Roelofs

and 5 more

November 11, 2020
Background: Childhood cancer survivors (CCS) who receive a hematopoietic cell transplantation (HCT) are at increased risk for follicle-stimulating hormone (FSH) and luteinizing hormone (LH) abnormalities, which may have a substantial negative impact on vascular function. This study’s purpose was to examine the association of vascular function with FSH and LH in HCT recipients, non-HCT recipients and healthy controls. Procedures: The study included CCS who were HCT recipients (n=24) and non-HCT recipients (n=308), and a control group of healthy siblings (n=211) all aged between 9-18 years. Vascular measures of carotid artery structure and function (compliance and distensibility), brachial artery flow-mediated dilation (FMD) and nitroglycerin-mediated endothelial-independent dilation (EID) were measured using ultrasound imaging. FSH, LH, testosterone (males only), and estrogen (females only) were measured from a fasting blood sample. Results: FSH was significantly higher in HCT recipients compared to non-HCT recipients and healthy controls (p<0.01). The groups did not differ significantly for LH, testosterone, or estrogen. Carotid compliance and distensibility were significantly lower in HCT and non-HCT recipients compared to healthy controls (p<0.05). FMD and EID did not differ significantly between groups. Higher FSH was associated with decreased carotid compliance (p<0.05). Higher testosterone was associated with lower EID (p<0.05). Conclusion: This study’s results suggest that higher levels of FSH in HCT recipients may result in significant reductions in vascular function compared to non-HCT recipients and healthy controls. Therefore, endocrine dysfunction, particularly abnormal FSH levels, may be an underlying mechanism of vascular dysfunction.
HMGB1 polymorphisms in acute lymphoblastic leukemia
Elham Rayzan
Saeed Farajzadeh Valilou

Elham Rayzan

and 6 more

November 11, 2020
Acute lymphoblastic leukemia (ALL) is the most common pediatric malignancy and the leading cause of childhood death in contrast to the 90% cure rates. ALL includes different subtypes described by interrupt collections of somatic chromosomal alterations and sequence mutations that disrupt normal body functions such as lymphoid maturation, cell-cycle regulation, and tumor suppression. Having a significant role in several cancers, the high mobility group box-1 (HMGB1) gene considered an important gene in the development of tumors. Herein, the genetic role of HMGB1 was studied in the 49 Iranian patients with newly diagnosed ALL using Sanger sequencing of HMGB1 coding regions (exons 2 to 5). The results showed that none of the subjects in the study had any promising variants in the coding sequences of the HMGB1. These findings suggest that HMGB1 is not directly associated with ALL incidence and behavior. Further investigations using a large group of patients with different races and ethnicities are required to analyze the possible role of HMGB1 gene polymorphisms in ALL patients.
Natural History of Ascending Aortic Aneurysms (40-50 mm): Impact of Bicuspid Aortic V...
Tarek Malas
Eric Dumont

Tarek Malas

and 4 more

November 11, 2020
Background: Growth of ascending aortic aneurysms in bicuspid aortic valve (BAV) patients is controversial. Methods: To evaluate the natural history of medically treated ascending aortic aneurysms and the impact of BAV, 572 patients (104 pts BAV; 468 pts with tricuspid aortic valve(TAV) with 40-50mm ascending aortic aneurysms were followed prospectively in a dedicated thoracic aortic clinic. Results: Patients with BAV were younger (BAV: 56.5±10.6 vs. TAV: 66.9±9.9; p<0.0001) and less high blood pressure (BAV:54.4% vs. TAV:69.2%; p=0.01). Maximal ascending aortic diameter was significantly larger in BAV vs. TAV patients (46.5±2.3 vs. 45.2±3.0; p<0.0001). Mean follow-up was 3.9±2.5 years. Significantly more patients were operated during follow-up for the ascending aorta or the aortic valve in the BAV group (BAV:32.7% vs. TAV:7.3%; p<0.0001). Only one patient with TAV was operated emergently for an acute aortic syndrome. Operative mortality was 0% and overall mortality was 10.3%. Five- and ten-year freedom from ascending aortic aneurysm progression >2 mm was comparable for both groups BAV vs. TAV (86.5% vs. 83.9%) and (36.0% vs. 29.4%); (log rank=0.51). Five- and ten-year survival for both groups was BAV vs TAV (96.7% vs 96.6%) and (91.2% vs 90.8%) years (p=0.94). Conclusions: Medically treated 40-50mm ascending aortic aneurysms show slow growth rate comparable for BAV and TAV patients. Freedom from acute aortic-related events and survival are very high in both BAV and TAV patients.
Novel germline RB1 and MET gene mutations in a case with bilateral retinoblastoma fol...
Attila Mokánszki
Chang Yi-Che

Attila Mokánszki

and 8 more

November 11, 2020
Background Retinoblastoma (Rb) is a malignant tumor of the developing retina that affects children before the age of five years in association with inherited or early germline mutations of the RB1 gene. The genetic predisposition is also related with second primary malignancies arising de novo, or following radiotherapy which have become the leading cause of death in retinoblastoma survivors. Procedure We describe a retinoblastoma case with a novel RB1 and a synchronous MET aberration. Our goal was to identify all germline and somatic genetic alterations in available tissue samples from different time periods and to reconstruct their clonal relations using next generation sequencing (NGS). We also used structural and functional prediction of the mutant RB and MET proteins to find interactions between the defected proteins with potential causative role in the development of this uniqe form of retinoblastoma. Results In this study we detected a retinoblastoma case of non-parental origin with a novel RB1 c.2548C>T;p.(Gln850Ter) and a synchronous MET c.3029C>T;p.(Thr1010Ile) germline mutations. Following bilateral retinoblastoma the boy further developed at least four different manifestations of two independent osteosarcomas. Both histopathology and NGS findings supported the independent nature of a chondroblastic osteosarcoma of the irradiated facial bone followed by an osteoblastic sarcoma of the leg (tibia). Conclusions Because of the expanding number of registered Rb cases, the novel rare cases publication is very important to understand the molecular mechanism of this malignancy. We reported a novel form of Rb and consequential chondroblastic and osteoblastic osteosarcoma, the latter one developing pulmonary metastatses.
Gene influencing in COVID-19 infection, disease severity and its Pharmacotherapy
Sougata Sarkar
Shreyashi Dasgupta

Sougata Sarkar

and 4 more

November 11, 2020
COVID-19 pandemic has badly affected the world, having fatality rate ranging from 1 to 10% that differs in various countries. The median time from symptoms to clinical recovery is 6–8 weeks and to death is 2 to 8 weeks. Severity of disease and increasing mortality in COVID 19 is primarily due to presence of comorbidities like cardiovascular disease, pre-existing lungs disease, hypertension, diabetes, obesity and cancer. It is already known to us that humans show difference in drug responses because of their varied genetic make-up. Population genomics furnish an insight about genetic characteristic of a populations and it is critical in determining susceptibility, severity and natural protection against infectious diseases. Therefore, understanding the population genetic makeup may be deemed necessary to identify those who are at risk or protective from disease and develop genomics information, that would be useful in providing insight about COVID‐19 disease severity or outcomes. Some of the proposed genetic gateways in COVID 19 pathogenesis are mentioned in this review including roles of ACE2 gene, HLA gene, Chromosome 3P21.31, ABO locus, genes responsible for cytokine storm, TLR-pathway, Family Mediterranean fever and G6PD deficiency. Significant interindividual variability in response to drug therapy exists in patients. This review also evaluates the current therapeutics in COVID-19 like hydroxycholoroquine, azithromycin, RNA polymerase inhibitors, interleukin inhibitors, antivirals, ivermectin, doxycyclin and their pharmacogenomics viewpoint. Such Pharmacogenomic studies are very helpful for the physicians to choose and give accurate first line therapy for COVID 19 patients.
Where is my ear? - Cervical tragus with microtia
Smile Kajal
Anam Ahmed

Smile Kajal

and 1 more

November 11, 2020
The human pinna develops from six ‘Hillocks of His’. Any abnormality during development in formation or migration of these hillocks may lead to various pinna deformities. We present here an interesting clinical image of tragus of pinna arising from cervical region.
Combinatorial analysis of host-leader-Fab can greatly improve integrated process desi...
Mathias Fink
Clemens Schimek

Mathias Fink

and 6 more

November 11, 2020
Bioprocess development and optimization is a challenging, costly, and time-consuming effort. In this multidisciplinary task, upstream processing (USP) and downstream processing (DSP) are conventionally considered distinct disciplines. This consideration fosters “one-way” optimization without considering interdependencies between unit operations; thus, the full potential of the process chain cannot be achieved. Therefore, it is necessary to fully integrate USP and DSP process development to provide balanced biotechnological production processes. The aim of the present study was to investigate how different host/leader/antigen binding fragment (Fab) combinations in E. coli expression systems influence USP and primary recovery performance and the final product quality. We ran identical fed-batch cultivations with 16 different expression clones to study growth and product formation kinetics, as well as centrifugation efficiency, viscosity, extracellular DNA, and endotoxin content, which are important parameters in DSP. We observed a severe influence on cell growth, product titer, extracellular product, and cell lysis, accompanied by a significant impact on the analyzed parameters of DSP performance. Our results provide the basis for establishing integrated process development considering interdependencies between USP and DSP. These interdependencies need to be understood for rational decision-making and efficient process development.
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