We present a case of Gorlin–Goltz syndrome (GGS) in a patient who developed medulloblastoma, osteosarcoma, myelodysplastic syndrome, basal cell carcinoma, and odontogenic keratocyst by the age of 19 years. He had no known family history and no characteristic physical features of GGS. A frameshift mutation in the PTCH1 gene was found in the oral mucosa as a low-frequency mosaicism, basal cell carcinoma, and normal skin by whole-exome sequencing of cancer susceptibility genes. Setting a therapeutic strategy with regard to second cancer development is important for pediatric cancer patients who have a background of cancer predisposition. Advances in comprehensive multigenetic analysis are anticipated to aid in developing such a strategy.

SMARCD2 (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily D, member 2) is critical for myelopoiesis. Recently, bi-allelic SMARCD2 mutations have been reported in five children causing autosomal recessive congenital neutropenia with specific granulocytes deficiency (CN-SGD); a syndrome resulting in G-CSF resistant neutropenia, recurrent infections and dysplastic myelopoiesis. We report a new case with CN-SGD caused by two novel heterozygous pathogenic variants in the SMARCD2 gene (c.1081del (p.Gln361Argfs*15), and c.217C>T (p.Arg73*)). Treatment with weekly dosing of thrombopoietin receptor agonist, Romiplostim, along with daily G-CSF transformed her clinical course implying potential synergism. This report advances understanding about CN-SGD caused by SMARCD2 mutations.

Water scarcity has become one of the major issues to environmentalist, researchers and mostly to society and its people. The rapid increasing population, socio-economic development and climate change has exacerbated the water scarcity situation. The uncertainty in the future societal and climate conditions will increase the scarcity risk. Therefore, this study aims to explore the water scarcity responses to future socio-economic development called Share Socio-economics Pathways (SSPs) and climate change named Representative Concentration Pathways (RCPs) for the three period of 2030s, 2060s and 2090s in the transboundary 3S (Sekong, Sesan and Srepok) Basin. The three SSPs i.e., SSP1, SSP2 and SSP3 and two RCPs i.e., RCP4.5 and RCP8.5 were selected for projection of future water scarcity risk. In which, the SSP1 was combined with RCP4.5 and two remain SSPs are compatible with RCP8.5. The results show that the basin experienced stress condition and it will increase till 2090s under SSP2 and SSP3 scenarios. The basin would expose to the worse situation of scarcity in the dry years. Furthermore, the projected spatial water scarcity distribution map reveals that the extreme scarcity mainly occurred in the upstream of Sesan and Sre Pok sub-basin located in Vietnam. Among the three water stress mitigation options, water transportation is the effective option for reducing the medium and severe scarcity status. The results of this study will contribute the enlighten the water scarcity situation and will be assets to policy makers and stakeholders for effective decision making in development of water resource management of complex transboundary river basin.

Objective: To demonstrate the applicability and adaptability of UFS-QoL in evaluating treatment effectiveness in Chinese populations. Design: Secondary analysis of a prospective cohort study. Setting: 20 Chinese hospitals Population or sample: 2411 Chinese women with symptomatic fibroids. Methods: Patients completed UFS-QoL and short form-36 (SF-36) at pre-surgery, 6 months, and 12 months after surgery. Evaluating the extent to which items comprising UFS-QOL the same concept in Health-related Quality of Life (HRQL) is obtained by calculating the Cronbach’s α coefficient. Relationships between items and domains were established using principal axis factor analysis with orthogonal rotation. Correlation between UFS-QoL and SF-36 was estimated by Spearman’s correlation. The ability to detect change was evaluated by comparing pre- and post-treatments and 6- and 12-month scores using mixed effect models. Main outcome measures: Internal reliability, convergent validity, criterion validity, and responsiveness. Results: Exploratory factor analysis yielded six factors with eigenvalues >1. A 63.61% total variance was explained by the test items. Ceiling effects of self-consciousness and sexual functioning were >15%. UFS-QoL showed a positive and moderate correlation with SF-36, with good consistency reliability (Cronbach α>0.7 in all subscales) and ability to detect change after treatment, except for self-consciousness (Cronbach α =0.56), which showed both lowest effect size (0.38) and SRM (0.38) in 6 and 12 months after treatment Conclusions: Symptom severity, activity, and mood domains were valid and reliable in the Chinese UFS-QoL. However, self-consciousness domain needs further investigation on cultural adjustment, for example, cognitive debriefing for how Chinese interpret those questions.

Giant coronary aneurysms are a rare finding on coronary angiography. Given its very low prevalence, little is known about optimal management of this coronary pathology. In this case report, we describe the presentation and management of a patient with a giant coronary aneurysm in the right coronary artery and summarize the current knowledge.

Left ventricular (LV) pseudoaneurysms are a rare occurrence that may be seen after myocardial infarction (MI) or in patients with prior cardiac surgery and are associated with a significant risk of rupture and mortality rate. Repair options include primary repair, epicardial patching, or percutaneous repair with an occlusive device. To our knowledge, there has yet to be a repair utilizing a segment of the mitral valve, which we have demonstrated in this case report. Unfortunately, the patient in this case later expired after complications of mesenteric ischemia. The application of this technique is limited to cases in which the pseudoaneurysm is posteriorly located and in close proximity to the mitral valve so that the P2 segment may be used as a patch. This is a novel approach to LV pseudoaneurysm repair, though careful consideration towards patient selection is warranted, as comorbid conditions may contribute to morbidity and mortality.

We report a case of a patient hospitalized for anorexia nervosa who developed serotonin toxicity following the introduction of venlafaxine for obsessive compulsive disorder in our eating disorder department.

- We hypothesized that the surgical mask could filter some odorant particles, leading to a transient hyposmia. - A crossover prospective comparative study between 2 groups of 10 healthy volunteers was conducted to evaluate the impact of wearing a surgical mask on sense of smell by comparing the results of sniffin’ sticks test (SST) with and without a surgical mask. - All the subjects, except one, had a significantly better total score (TDI) without a mask. - 4/20 (20%) were normosmic without a mask, while being recategorized as hyposmic with a mask. - Wearing a surgical mask may reduce the sense of smell, in a cohort of young normosmic patients.

Key Learning Points - A modified endoscopic transseptal transphenoidal technique for pituitary surgery is described. - It involves a septal mucosa incision in line with the anterior portion of the middle turbinate. - It does not require excision or deflection of the cartilaginous septum. - It maintains an intact septal mucosa on one side. - It avoids a septal perforation.

In this paper, we define the curve = + at a constant distance from the edge of regression on a curve () with arc length parameter in Galilean 3-space. Here, is a non-isotropic or isotropic vector defined as a vector tightly fastened to the Frenet trihedron of () in ^3. We build Frenet frame {_,_,_} of the obtained curve _ and give the properties related to the curvatures of the curve _. Also, we discuss ruled surfaces of type generated via and which is defined as a tangent of _ in ^3. We provide examples and visuals to back up our research.

The resilience of ecosystem function under global climate change is governed by individual species vulnerabilities and the functional groups they comprise. Yet it remains unclear whether the species that contribute to different functional processes which underpin ecosystem function exhibit differential vulnerability to climate change. We used existing thermal physiological trait data across a range of terrestrial species to examine the vulnerability of key functional groups to climate change (e.g. decomposers, primary producers, pollinators, primary, secondary and tertiary consumers). We found that primary producers had the broadest warming margins across the globe, and that vulnerability tended to increase with trophic level. However, we found that vulnerability within functional groups changed across geographic scales, where some groups were more vulnerable in low-latitude regions and others were more vulnerable at mid-latitude regions. This study provides a critical first step in linking individual species vulnerabilities with whole ecosystem responses to climate change.

Introduction. Adenoid hypertrophy leading to upper airway blockage is the most common cause of sleep apnoea syndrome in children. Moreover, the following disturbances can occur: normal speech resonance impairment, middle ear ventilation difficulties, and the development of an abnormal oral breathing pattern. Abnormal craniofacial growth and occlusal abnormalities can be observed as well. Objectives.The aim of the study was to confirm the relationship between respiratory disorders with the impaired upper airway patency resulting from reduced nasopharyngeal space. Moreover, an attempt was made to validate a new medical device, a NasoOroSpirometer, for diagnosing respiratory disorders resulting from adenoid hypertrophy. Design and Setting The NasoOroSpirometer is made up of three anemometric sensors (two nasal and one additional oral sensor) and is used to measure the airflow through the upper airways (UA). A measurement of the flow of air simultaneously through both nasal orifices was carried out in 105 children aged 4-8 years. The values obtained included the number of inhalations per minute, the inspiratory time and the inhalation volume. Results and discussion. The study demonstrated that children with adenoid hypertrophy had a statistically significantly lower number of inhalations through the nose than children from the control group. The current results demonstrated no statistically significant difference between the volume and the number of inhalations in both a combined analysis and in one analysis conducted separately for each nasal passage. The demonstrated statistically significant difference is most probably due to the oral compensation for the inefficient nasal respiratory pattern. A NasoOroSpirometric examination can be a screening tool in the assessment of UA patency disorders and an indicator for the eligibility for instrumental or imaging examinations.

The Tibetan fox (Vulpes ferrilata) belongs to Canidae of Carnivorous Order and is one of the unique species on the Qinghai-Tibet Plateau. However, the molecular mechanism of its adaptation to high altitude is still unclear. Here, we applied Oxford Nanopore sequencing and Hi-C technology to assemble the chromosome-level draft genome of V. ferrilata. A 2.38-Gb genome with an N50 length of 133.96 Mb was obtained. The proportion of repeated sequences is 33.77%. The 157 contigs were further assembled into 18 chromosomes with a sequence length of 2378.42 Mb, accounting for 99.95% of the total length. Phylogenetic analysis showed that the Tibetan fox formed a clade with the red fox, with an estimated divergence time of 3.27 MYA. However, the significantly over-represented pathways and significantly enriched GO-terms of expanded gene families in V. ferrilata genome were mainly related to hypoxia response and energy metabolism, which indicated a mechanism strategy of V. ferrilata for high-altitude adaption. Furthermore, the selection signature analysis identified genes associated with oxygen transport, DNA damage and repair, and angiogenesis in V. ferrilata when compared with the other relative species. The construction of the genome of V. ferrilata provided valuable information for the further genetic mechanism analysis of important biological processes and will facilitate the research of genetic changes during evolution.

The outbreak of novel SARS-CoV-2 virion has wreaked havoc with a high prevalence of respiratory illness and high transmission due to a vague understanding of the viral antigenicity augmenting dire challenge to public health globally. This viral member requisite the expansion of diagnostic and therapeutic tools to track its transmission and confront through vaccine development. Therefore, prophylactic strategies are mandatory. Virulence-related spike proteins can be the desirable candidate befitting computational design of vaccines targeting SARS-CoV-2 followed by meteoric development of immune epitopes. This study aims to characterize Spike protein using the existing knowledge related to the immunological profile of SARS-CoV-2 to predict immunogenic epitopes based on antigenicity, allergenicity, toxicity, immunogenicity, and population coverage. Applying in-silico approaches, a set of twenty-four B lymphocyte-based epitopes and forty-six T lymphocyte-based epitopes (MHC-I and MHC-II) were selected. The predicted epitopes were evaluated for their intrinsic properties. Physico-chemical characterization of epitopes qualify them for further in vitro and in vivo analysis pre-requisite vaccine development. This study presents a set of screened epitopes that binds to the HLA- specific allelic proteins that can be employed for designing a multi-epitopic peptide vaccine construct (MEPVC) against SARS-CoV-2 that will confer vaccine-induced protective immunity due to its structural stability.

Temperatures and photoperiods can profoundly affect plant growth and development, and play vital roles in the local adaptation of plant species. Weedy rice (Oryza sativa f. spontanea) is a conspecific weed of cultivated rice, occurring in the same rice fields (sympatry) of early and late rice-cultivation seasons. In this study, the contrasting patterns of air-temperature and daylength variation were identified between the early and late seasons in Leizhou, Guangdong Province of China, where lower air-temperatures and longer daylengths in the early seasons were found with more stressful conditions for weedy rice growth and development. Significant differences in plant heights, the number of tillers per plant, flowering time, and reproductive traits were detected between the corresponding early- and late-season weedy rice populations of the same rice fields in the early-season common garden experiment. The populations collected from the early season showed higher plant heights, more tillers, and earlier flowering time than those from the late season. However, such differences were not detected in the late-season common garden experiment. In addition, evident local adaptation represented by the traits such as plant heights, flowering time, and reproductive traits were only detected in the early-season weedy rice populations. These results suggest that the early-season weedy rice populations may have evolved adaptive to the early seasons. Altogether, these findings provided evidence for phenotypical divergence between sympatric weedy rice populations, most likely resulted from the local adaptation to the early seasons in a stressful environment, supporting the theory of sympatric divergence in ecological speciation.

Network meta-analysis (NMA) computes treatment ranking to assist with clinical decision making, but it is not always clear how reliable the ranking is and how likely the ranking may be altered by the accumulation of new evidence. Uncertainty and robustness of ranking are two concepts related to the reliability of ranking. The uncertainty of ranking can be measured by the distribution of ranking probabilities, and the robustness of ranking can be evaluated by the agreement between treatment ranking of complete data and that of modified data with the deletion of a specific trial. However, it is still unclear whether these two approaches would always yield similar conclusions on the reliability of ranking, i.e. a robust ranking is also one of low uncertainty. The aim of this study was to investigate the relationship between the uncertainty and the robustness of treatment ranking by using normalized entropy and quadratic weighted Cohen’s kappa, respectively, to analyze 60 NMAs. We found that when the uncertainty of ranking is very low, treatment ranking is unlikely to be altered by the deletion of a trial from the complete data. However, good robustness of ranking does not always correspond to low uncertainty. An NMA with a robust treatment ranking may have high uncertainty of treatment ranking. The uncertainty of ranking prevents us from naïve interpretation of treatment ranking, and the robustness of ranking may identify trials included in the network which have a substantial influence on the treatment ranking. When an NMA is undertaken, both of them should be evaluated.

This paper deals the mathematical modeling of second wave COVID19 pandemic in India, also we discussed such as uniformly bounded of the system, Equilibrium analysis and basic reproduction number R0. We calculated the analytic solutions by HPM (Homotopy Perturbation Method) and used Mathematica 12 software for numerical analysis up to 8th order approximation. It checked the error values of the approximation while the system has residual error, absolute error and h curve initial derivation of square error at up to 8th order approximation. The basic reproduction number ranges between 0.8454 and 2.0317 form numerical simulation, it helps to identify the whole system fluctuations. Finally, our proposed model validated from real life data for highly affected 5 states

Aim: This study aimed to examine the prevalence of any opioid use before elective orthopaedic surgery with a focus on regional and rural hospitals in New South Wales, Australia. Methods: This was a cross-sectional, observational study of patients undergoing orthopaedic surgery conducted between April 2017 and November 2019 across five hospitals that included a mix of capital city, regional, rural, private and public settings. Preoperative patient demographics, pain scores and analgesic use were collected during pre-admission clinic visits, held on average two to six weeks before surgery. Results: Of the 430 patients included (53.3% (229/430) women; mean age, 67.5 [standard deviation [SD] 10.1] years), the overall prevalence of any preoperative opioid use was 37.7% (162/430). Rates of preoperative opioid use ranged from 20.6% (13/63) at a capital city metropolitan hospital to 48.8% (21/43) at a regional metropolitan hospital. Multivariable logistic regression showed that the regional metropolitan setting was a significant predictor of opioid use before orthopaedic surgery (adjusted odds ratio [aOR], 2.6; 95% confidence interval [CI], 1.0 – 6.7) after adjusting for covariates. Conclusion: Opioid use prior to orthopaedic surgery is common and appears to vary by geographic location. Given its use is associated with worse postoperative outcomes, rigorous efficacy studies involving different geographic locations are required to determine whether opioid tapering prior to surgery can reduce harm.

Background: Intestinal Fusobacterium nucleatum (F. nucleatum) infection has been implicated into the progression of colorectal cancer (CRC). However, F. nucleatum as a biomarker in 5-fluorouracil (5-FU) resistance of CRC has not been fully analyzed by comparing with other types of gut microbiota. This meta‑analysis aimed to compare the diagnostic performance of intestinal Fusobacterium nucleatum, Bacteroides fragilis and Escherichia coli in 5-FU resistance to colorectal cancer and provide evidence‑based data to clinical practice. Methods: Comprehensive searches of PubMed, Embase, Cochrane Library and Web of Science databases were conducted by the following key words: “Fusobacterium nucleatum”, “5-Fluorouracil resistance”, “Bacteroides fragilis”, “Escherichia coli” and “colorectal cancer(s)”. A total of 11 studies were selected according to the preestablished inclusion and exclusion criteria and analyzed by Review Manager 5.4 software. The sensitivity, specificity, positive likelihood ratio (PLR), negative likelihood ratio (NLR), diagnostic odds ratio (DOR) and their corresponding 95% confidence interval (CI) of each eligible study were summarized. Results: Overall sensitivity and specificity of F. nucleatum detection in 5-FU resistance of CRC were 0.65 (95% CI:0.60-0.69) and 0.70 (95% CI:0.59-0.87), respectively. Its PLR and NLR in detecting colorectal cancer were 2.57 (95% CI:1.47-3.21) and 0.52 (95% CI:0.43-0.63). DOR value was 4.92 (95% CI:2.23-7.33), which significantly exceeds the performance of B. fragilis (DOR: 0.53, 95% CI:0.31-0.82) and E. coli (DOR: 0.63, 95% CI: 0.57-0.76) for indicating 5-FU resistance of CRC. Conclusion: Compared with B. fragilis and E. coli, intestinal F. nucleatum is a valuable biomarker for 5-FU resistance to colorectal cancer.

The adverse ocular reactions to paclitaxels involve a series of damage, which can be observed on ocular surface, ocular appendages and intraocular tissues. They can appear as various clinical symptoms including dry eye, lacrimal duct obstruction, conjunctivitis, keratitis, macular edema, retinal injury, optic nerve injury, and etc. All these symptoms may lead to irreversible visual loss. The mechanisms of these side effects are still unclear. Macular edema, one of the side effects, may be related to the dysfunction of retinal pigment epithelial (RPE) cells and Müller cells which is caused by paclitaxel, while other symptoms may be caused by the cytotoxicity of paclitaxels. In this review, we describe the widely accepted drug-induced ocular disorders and the possible mechanisms, so as to provide some suggestions for the monitoring and management of ocular toxicity.

Acquired hemophilia A is a rare condition characterized by de novo development of a coagulation factor VIII inhibitor. Inhibition of factor VIII activity results in increased susceptibility to bleeding events, most frequently mucosal or soft tissue bleeding. We report two cases of acquired hemophilia A in previously healthy pediatric patients. Notably, both patients presented with hemarthrosis as the sentinel bleeding event. In both cases, administration of immunosuppressive therapy was associated with inhibitor loss and patient cure. These cases emphasize the importance of considering acquired hemophilia A in pediatric patients presenting with acute onset hemarthrosis.

The timing of diagnosis since the injury was important for the decision-making. Foreign bodies in the heart which has been diagnosed early, should be treated surgically, regardless of the presence of symptoms, to reduce further myocardial damage. We timely diagnosed this patient with a foreign body in the heart after an unusual injury through computerized tomography and echocardiography. The metallic foreign body was successfully removed in time, avoiding serious complications.

Objective: To evaluate the intensity of climacteric symptoms and possible associations with sociodemographic variables, anxiety, depression, and quality of life in women between 40 and 65 years old who sought attendance in a primary health care setting in the city of Rio de Janeiro, Brazil during the COVID-19 pandemic. Design: An observational cross-sectional study. Setting: a municipal health care facility (MHF) in Rio de Janeiro, Brazil. Sample: 138 women (age = 51.4 ± 7.1 years old) seeking health services from June to August 2020. Methods: A cross-sectional approach was developed using self-reported questionnaires. Main outcome measures: Sociodemographic and economic aspects, the Blatt and Kupperman Menopausal Index (BKMI), the WHOQOL-BREF for quality of life, and the Hospital Anxiety and Depression Scale (HADS). Results: Ninety-six percent of the women had moderate to accentuated climacteric symptoms. Women with severe menopausal symptoms tended to have higher HADS scores (p < 0.05). There was a significant association between BKMI scores and education levels (p = 0.04). All illiterate women had moderate or severe climacteric symptoms. Proportionately, women who have completed high school had less marked intensity than those with moderate schooling. Moreover, most women with severe or moderate climacteric intensity levels presented “highly likely” incidence of anxiety. Conclusions: This is the first report to highlight climacteric and menopausal effects on women’s health status during the COVID-19 pandemic, which is an aggravating factor for the emergence of emotional changes resulting from sanitation, social isolation, and socioeconomic uncertainties.

A 67-yeary-old middle-aged woman admitted to the hospital with chief complaints of intermittent palpitation, fatigue for more than 3 months and bilateral lower extremity edema about 2 months. A solid mass was discovered in the right atrium by echocardiographic examination, and computerized tomography (CT) guided needle biopsy of the mass was performed and revealed a neurogenic tumor, which was a paraganglioma. She underwent surgical excision of the tumor and had uneventful recovery at a month post-operation.