bluuebunny/crossref_metadata_2025 huggingface dataset:
Flavonoids isolated from the South African weed Chromolaena odorata (Asteraceae) have pharmacological activity against uropathogens
Authors: Omokhua-Uyi Aitebiremen G. , Abdalla Muna A. , Leonard Carmen M. , Aro Abimbola , Uyi Osariyekemwen O. , Van Staden Johannes , McGaw Lyndy J.
Published: July 2020

Background

Urinary tract infections (UTIs) caused by opportunistic pathogens are among the leading health challenges globally. Most available treatment options are failing as a result of antibiotic resistance and adverse effects. Natural sources such as plants may serve as promising alternatives.

Methods

Compounds were isolated from the South African weed Chromolaena odorata through column chromatography. Purified compounds were tested for antimicrobial activity using the p-iodonitrotetrazolium chloride (INT) colorimetric method, against uropathogenic Escherichia coli, Staphylococcus aureus, Klebsiella pneumoniae, Aspergillus fumigatus and Cryptococcus neoformans. Anti-biofilm, anti-adhesion and metabolic inhibition activities were investigated against selected strains. Safety of the compounds was determined against Vero monkey kidney, C3A human liver and colon (Caco2) cells.

Results

Four compounds identified as pectolinaringenin (1), (±)-4′,5,7-trimethoxy flavanone (2), 5-hydroxy-3,7,4′-trimethoxyflavone (3) and 3,5,7-trihydroxy-4′-methoxyflavone) (4) were isolated. Minimum inhibitory concentration (MIC) varied between 0.016 and 0.25 mg/mL. Compounds 2 and 3 showed promising antimicrobial activity against E. coli, S. aureus, K. pneumoniae, A. fumigatus and C. neoformans with MIC between 0.016 and 0.125 mg/mL, comparable to gentamicin, ciprofloxacin and amphotericin B used as positive controls. Compounds 2 and 3 showed good anti-biofilm and metabolic inhibition activities against E. coli and S. aureus but weak anti-adhesion activity against the organisms. Low toxicity with selectivity indexes between 1 and 12.625 were recorded with the compounds, indicating that the compounds were rather toxic to the microbial strains and not to the human and animal cells.

Conclusion

Pharmacological activities displayed by compounds 2 and 3 isolated from C. odorata and low toxicity recorded credits it as a potential lead for the development of useful prophylactic treatments and anti-infective drugs against UTIs. Although known compounds, this is the first time these compounds have been isolated from the South African weed C. odorata and tested for antimicrobial, anti-biofilm, metabolic inhibition and anti-adhesion activities.
Managing residents in difficulty within CBME residency educational systems: a scoping review
Authors: Pirie Jonathan , St. Amant Lisa , Glover Takahashi Susan
Published: July 2020

Background

Best practices in managing residents in difficulty (RID) in the era of competency-based medical education (CBME) are not well described. This scoping review aimed to inventory the current literature and identify major themes in the articles that address or employ CBME as part of the identification and remediation of residents in difficulty.

Methods

Articles published between 2011 to 2017 were included if they were about postgraduate medical education, RID, and offered information to inform the structure and/or processes of CBME. All three reviewers performed a primary screening, followed by a secondary screening of abstracts of the chosen articles, and then a final comprehensive sub-analysis of the 11 articles identified as using a CBME framework.

Results

Of 165 articles initially identified, 92 qualified for secondary screening; the 63 remaining articles underwent full-text abstracting. Ten themes were identified from the content analysis with “identification of RID” (41%) and “defining and classifying deficiencies” (30%) being the most frequent. In the CBME article sub-analysis, the most frequent themes were: need to identify RID (64%), improving assessment tools (45%), and roles and responsibilities of players involved in remediation (27%). Almost half of the CBME articles were published in 2016–2017.

Conclusions

Although CBME programs have been implemented for many years, articles have only recently begun specifically addressing RID within a competency framework. Much work is needed to describe the sequenced progression, tailored learning experiences, and competency-focused instruction. Finally, future research should focus on the outcomes of remediation in CBME programs.
Canine infantile left ventricular noncompaction
Authors: Vilcu Maria , Scurtu Iuliu , Ohad Dan G. , Papuc Ionel , Scurtu Laura , Tabaran Flaviu
Published: July 2020

Background

Left ventricular noncompaction (LVNC) is a rare form of cardiomyopathy currently described in humans and cats. It consists of a spongy myocardium characterized by prominent trabeculation and deep recesses involving more than 50% of the ventricular thickness. We describe the clinical and pathological features of LVNC combined with tricuspid valve dysplasia, double-orifice tricuspid valve and severe pulmonary stenosis in a puppy. In addition, we briefly review the LVNC causes, pathogenesis, forms and current diagnostic criteria.

Case presentation

A seven-week-old intact German Shorthaired Pointer-cross male was presented with a poor body condition, exercise intolerance and dyspnea. Clinical exam identified a bilateral systolic murmur (grade IV/VI over the right heart base and grade III/VI over the left heart base). Echocardiography identified tricuspid valve dysplasia, mild mitral regurgitation, and severe pulmonic stenosis with a trans-valvar systolic pressure gradient of 106 mmHg. Left ventricular noncompaction was diagnosed by necropsy and further confirmed histopathologically by the presence of two distinct myocardial layers: an inner noncompacted zone covering more than 50% of ventricular thickness containing prominent trabeculation and deep recesses, and an outer zone of compact myocardium.

Conclusions

This is the first case describing LVNC in a canine patient, supporting the introduction of this form of heart disease as a differential diagnosis for cardiomyopathies in juvenile and adult dogs.
Discordance between the triglyceride glucose index and fasting plasma glucose or HbA1C in patients with acute coronary syndrome undergoing percutaneous coronary intervention predicts cardiovascular events: a cohort study from China
Authors: Hu Chengping , Zhang Jianwei , Liu Jinxing , Liu Yan , Gao Ang , Zhu Yong , Zhao Yingxin
Published: July 2020

Background

Previous studies have investigated the relationship of the triglyceride glucose (TyG) index with the incidence of cardiovascular events. However, to date, there have been no studies comparing the predictive values of fasting plasma glucose (FPG), glycosylated hemoglobin A (HbA1C) and the TyG index for the risk of cardiovascular events. This study aimed to use discordance analysis to evaluate and compare the effectiveness of FPG, HbA1C and the TyG index to predict the risk of cardiovascular events.

Methods

Patients diagnosed with acute coronary disease (ACS) undergoing percutaneous coronary intervention (PCI) were enrolled in this study. The TyG index was computed using the following formula: ln [fasting triglycerides (mg/dL) × FPG (mg/dL)/2]. We categorized patients into 4 concordance/discordance groups. Discordance was defined as a TyG index equal to or greater than the median and an FPG or HbA1C less than the median, or vice versa. The primary outcome was the composite of death, nonfatal myocardial infarction, nonfatal stroke and unplanned repeat revascularization. A Cox proportional hazards regression model was performed to estimate the risk of cardiovascular events according to the concordance/discordance groups. Sensitivity analysis was performed on each patient group divided into high or low categories for HbA1C or FPG and were repeated according to diabetes status.

Results

In total, 9285 patients were included in the final statistical analysis (male: 75.3%, age: 59.9 ± 10.05 years, BMI: 26.2 ± 9.21 kg/m2, diabetes: 43.9% and dyslipidemia: 76.8%). The medians defining concordance/discordance were 6.19 mmol/L for FPG, 6.1% for HbA1C and 8.92 for the TyG index. The TyG index was strongly related to triglycerides and HDL-C (r = 0.881 and -0.323, respectively; both P < 0.001). During the 17.4 ± 2.69 months of follow-up, there were 480 (5.1%) incident cardiovascular events. Among patients with a lower HbA1C or FPG, 15.6% and 16.3%, respectively, had a discordantly high TyG index and a greater risk of cardiovascular events compared with patients with a concordantly low TyG index after full adjustment (HR: 1.92, 95% CI 1.33–2.77; HR: 1.89, 95% CI 1.38–2.59; for HbA1C and FPG, respectively). Repeat risk estimation using high or low categories for FPG or HbA1C and diabetes status confirmed the results.

Conclusions

Patients with a discordantly high TyG index had a significantly greater risk of cardiovascular events regardless of diabetes status. The TyG index might be a better predictor of cardiovascular risk than FPG or HbA1C for patients with ACS undergoing PCI. This discordance may support better cardiovascular risk management regardless of diabetes status.
Correction to: Au-delà de la volonté: les conditions d’empowerment nécessaires pour abandonner les mutilations génitales féminines à Conakry (Guinée), une ethnographie focalisée
Authors: Doucet Marie-Hélène , Delamou Alexandre , Manet Hawa , Groleau Danielle
Published: July 2020

An amendment to this paper has been published and can be accessed via the original article.
Analysis of the Iranian maternal mortality surveillance system and providing system improvement strategies: study protocol for strategy formulation
Authors: Beigi Marjan , Jahanian Sadatmahaleh Shahideh , Changizi Nasrin , Mohammadi Eesa , Kazemi Ashraf
Published: July 2020

Background

The implementation of the maternal mortality surveillance system in Iran has significantly reduced the incidence of maternal mortality. However, the pattern of the causes of the mortalities, which has remained constant over the years, are still concerning. This study aimed to explain the experiences of the actors of the Iranian maternal mortality surveillance and provide strategies for improving this system.

Methods

This research is a qualitative study to develop strategies, that will be conducted in two phases. In the first phase, purposive sampling will be performed, and the data will be collected based on the experiences of the Iranian maternal mortality surveillance system actors in Iran’s Ministry of Health and the selected universities (Shiraz, Isfahan, Tehran, Zahedan, Alborz, Shahrekord) through semi-structured interviews. Moreover, during this phase, some part of the data will be collected through random participation of the researcher in some maternal mortality committees of the selected universities. In order to carry out the second phase, a panel of experts will be set up to discuss the best strategies for improving the Iranian maternal mortality surveillance by considering the above results.

Discussion

The analysis of maternal mortality surveillance system needs to evaluate the experiences of the actors who are the policymakers of this system and can be effective in identifying its challenges. This analysis and formulation of the subsequent strategies can lead to maternal health indicators remaining within the range of international standards or even beyond those standards in Iranian universities and countries with similar surveillance system.
Case report: one case of coronavirus disease 2019 (COVID-19) in a patient co-infected by HIV with a normal CD4+ T cell count
Authors: Menghua Wu , Xin Zheng , Jianwei Liu , Yu Zhang , Qinwei Yao
Published: July 2020

Background

The COVID-19 has been a severe pandemic all around the world. Nowadays the patient with co-infection of HIV and SARS-CoV-2 was rarely reported. Here we reported a special case with HIV and SARS-CoV-2 co-infection, which showed a prolonged viral shedding duration.

Case presentation

The patient was infected with HIV 8 years ago through sexual transmission and had the normal CD4+T cell count. She was found SARS-CoV-2 positive using real-time Polymerase Chain Reaction (RT-PCR) during the epidemic. Most importantly, the patient had a prolonged viral shedding duration of SARS-CoV-2 about 28 days.

Conclusion

The viral shedding duration may be prolonged in people living with HIV. The 14 days isolation strategy might not be long enough for them. The isolation or discharge of these patients needs further confirmation for preventing epidemics.
SLC14A1 (UT-B) gene rearrangement in urothelial carcinoma of the bladder: a case report
Authors: Guo Zhongying , Niu Xiaobing , Fu Guangbo , Yang Baoxue , Chen Guangping , Sun Su’an
Published: July 2020

Background

Bladder cancer (BC) is a common and deadly disease. Over the past decade, a number of genetic alterations have been reported in BC. Bladder urothelium expresses abundant urea transporter UT-B encoded bySlc14a1gene at 18q12.3 locus, which plays an important role in preventing high concentrated urea-caused cell injury. Early genome-wide association studies (GWAS) showed that UT-B gene mutations are genetically linked to the urothelial bladder carcinoma (UBC). In this study, we examined whether Slc14a1gene has been changed in UBC, which has never been reported.

Case presentation

A 59-year-old male was admitted to a hospital with the complaint of gross hematuria for 6 days. Ultrasonography revealed a size of 2.8 × 1.7 cm mass lesion located on the rear wall and dome of the bladder. In cystoscopic examination, papillary tumoral lesions 3.0-cm in total diameter were seen on the left wall of the bladder and 2 cm to the left ureteric orifice. Transurethral resection of bladder tumor (TURBT) was performed. Histology showed high-grade non-muscle invasive UBC. Immunostaining was negative for Syn, CK7, CK20, Villin, and positive for HER2, BRCA1, GATA3. Using a fluorescence in situ hybridization (FISH),Slc14a1gene rearrangement was identified by a pair of break-apart DNA probes.

Conclusions

We for the first time report a patient diagnosed with urothelial carcinoma accompanied with splitSlc14a1gene abnormality, a crucial gene in bladder.
Desmoplastic small round cell tumor of the kidney: a case report
Authors: Ertoy Baydar Dilek , Armutlu Ayse , Aydin Oguz , Dagdemir Ayhan , Yakupoglu Yarkin Kamil
Published: July 2020

Background

Desmoplastic small round cell tumor (DSRCT) is a rare, aggressive neoplasm seen in children and young adults, usually manifested by involvement of abdominal serosa. Here, we present an unusual case of primary DSRCT of kidney.

Case presentation

The patient was an 8-year-old girl with a large renal mass which was confused with primitive neuroectodermal tumor (PNET) in the needle biopsy. The tumor had a variegated histology revealing frequent pseudo-rosette formations, pseudopapillary architecture, rhabdoid, clear or pleomorphic cells in addition to typical small round cell morphology and desmoplasia. It showed immunohistochemical features of DSRCT, and EWSR1 re-arrangement.

Conclusions

Proffering this diagnosis is particularly difficult for tumors of viscera because of the incognizance of the entity in these locations. Moreover, DSRCT is a great mimicker and may get easily confused with more common kidney malignancies of childhood such as Wilms tumor, PNET/EWS, rhabdoid tumor, clear cell sarcoma, and other small round cell tumors as well as renal cell carcinomas. The distinction is critical as the accurate therapeutic approach will require correct diagnosis.
SHiNeMaS: a web tool dedicated to seed lots history, phenotyping and cultural practices
Authors: De Oliveira Yannick , Burlot Laura , Dawson Julie C. , Goldringer Isabelle , Madi Darkawi , Rivière Pierre , Steinbach Delphine , van Frank Gaëlle , Thomas Mathieu
Published: July 2020

Motivation

In 2005, researchers from the French National Research Institute for Agriculture, Food and Environment (Institut national de recherche pour l’agriculture, l’alimentation et l’environnement, INRAE) started a collaboration with the French farmers’ seed network Réseau Semences Paysannes (RSP) on bread wheat participatory breeding (PPB). The aims were: (1) to study on-farm management of crop diversity, (2) to develop population-varieties adapted to organic and low-inputs agriculture, (3) to co-develop tools and methods adapted to on-farm experiments. In this project, researchers and farmers’ organizations needed to map the history and life cycle of the population-varieties using network formalism to represent relationships between seed lots. All this information had to be centralized and stored in a database.

Results

We describe here SHiNeMaS (Seeds History and Network Management System) a web tool database. SHiNeMaS aims to provide useful interfaces to track seed lot history and related data (phenotyping, environment, cultural practices). Although SHiNeMaS has been developed in the context of a bread wheat participatory breeding program, the database has been designed to manage any kind and even multiple cultivated plant species. SHiNeMaS is available under Affero GPL licence and uses free technologies such as the Python language, Django framework or PostgreSQL database management system (DBMS).

Conclusion

We developed SHiNeMaS, a web tool database, dedicated to the management of the history of seed lots and related data like phenotyping, environmental information and cultural practices. SHiNeMaS has been used in production in our laboratory for 5 years and farmers’ organizations facilitators manage their own information in the system.
Quantitative assessment of neural elements in a rat model using nerve growth factor after remnant-preserving anterior cruciate ligament reconstruction: a histological and immunofluorescence pilot study
Authors: Lee Sung Hyun , Cho Hyung Gyu , Song Jin Soo , Chun Keun Churl , Chun Churl Hong
Published: July 2020

Background

Immunofluorescence analyses of anterior cruciate ligament (ACL) allografts following remnant-preserving ACL reconstruction using Achilles tendon allografts have provided evidence for the presence of neural elements. In this study, we aimed to examine the expression of neural elements and quantify the presence of neural cells in ACL remnants and Achilles allografts using nerve growth factor (NGF) therapy after remnant-preserving ACL reconstruction.

Methods

Experiments were conducted on 5 pairs of rats (approximately 8 weeks old and weighing 320 g at the time of surgery). Longitudinally, split Achilles tendons from the paired rats were freshly frozen and later defrosted with warm saline and allografted onto the right ACL of the other rat that was partially detached at the femoral attachment site. A sham operation was conducted on the left knee to be used as a control. NGF was injected into both knee joints every week for 6 weeks after surgery. The presence of neural cells in the ACL of the sham-operated knee, allografted Achilles tendon, and ACL remnant was examined 6 weeks post-surgery using H and E and immunofluorescent staining.

Results

H and E staining did not reveal neural cells in any of the three groups. However, immunofluorescence analysis showed the presence of nestin-positive neural elements in the normal ACL tissues as well as ACL remnants. Additionally, neural elements were examined in 7 of the 8 (87.5%) allograft tissues. Quantitative analysis showed no difference in the number or area of nuclei among the three groups. However, the number and area of neural cells in the Achilles allografts were significantly lower than those in the other two groups (p= 0.000 andp= 0.001, respectively).

Conclusion

Our observations indicate that ACL remnants promote the new ingrowth and persistence of neural cells. We suggest that the ingrowth of neural elements can support the persistence and new ingrowth of mechanoreceptors, thereby enhancing the functional stability of knee joints. Moreover, the expression of neural cells in the Achilles allografts was lower than that in normal ACL tissues and ACL remnants in the quantitative evaluation, thereby confirming the essential role of ACL remnants in knee joint functionalization.
Evaluation of genetic susceptibility of common variants in SOX9 in patients with congenital talipes equinovarus in the Han Chinese population
Authors: Li Jian , Wang Zhi , Feng Dongxu , Wang Wei , Feng Weilou
Published: July 2020

Background

Congenital talipes equinovarus (CTEV) is a common birth defect that causes severe deformities of one or both feet. Genetics have been proven to play a key role in the risk of CTEV. Our study aimed to evaluate the genetic susceptibility of common variants in the SOX9 gene to CTEV in a Han Chinese population.

Methods

In this study, we recruited 2,205 study participants, including 692 CTEV patients and 1513 healthy controls. A total of seven selected single-nucleotide polymorphisms (SNPs) within the SOX9 gene were genotyped, and environmental variables, including maternal smoking and alcoholic drinking habits, were assessed. In addition, bioinformatics analyses were performed to explore the potential biological functions of the associated SNPs.

Results

The SNP rs73354570 was identified to be significantly associated with the risk of CTEV (OR = 1.53, P = 2.11 × 10−5), and the C allele was associated with an increased risk of CTEV. A dose-dependent pattern could be observed in genotypic analyses. The OR for individuals with AC genotypes was 1.37 (95% CI 1.09–1.71), and the OR for individuals with CC homozygotes was 1.47 (95% CI 1.18–1.82). Further analyses identified that rs73354570 is located within a region of multiple binding proteins, including CEBPB and POLR2A, which suggested that this SNP was also part of genetic motifs that are found within several cell types.

Conclusion

Our results provide evidence supporting the important role of the SOX9 gene in the contribution to the risk of CTEV.
Trem2 deficiency differentially affects phenotype and transcriptome of human APOE3 and APOE4 mice
Authors: Fitz Nicholas F. , Wolfe Cody M. , Playso Brittany E. , Biedrzycki Richard J. , Lu Yi , Nam Kyong Nyon , Lefterov Iliya , Koldamova Radosveta
Published: July 2020

Background

Alzheimer’s Disease (AD) is a neurodegenerative disorder influenced by aging and genetic risk factors. The inheritance of APOEε4 and variants of Triggering Receptor Expressed on Myeloid cells 2 (TREM2) are major genetic risk factors for AD. Recent studies showed that APOE binds to TREM2, thus raising the possibility of an APOE-TREM2 interaction that can modulate AD pathology.

Methods

The aim of this study was to investigate this interaction using complex AD model mice - a crossbreed of Trem2ko and APP/PSEN1dE9 mice expressing human APOE3 or APOE4 isoforms (APP/E3 and APP/E4 respectively), and their WT littermates (E3 and E4), and evaluate cognition, steady-state amyloid load, plaque compaction, plaque growth rate, glial response, and brain transcriptome.

Results

In both, APP/E3 and APP/E4 mice, Trem2 deletion reduced plaque compaction but did not significantly affect steady-state plaque load. Importantly, the lack of TREM2 increased plaque growth that negatively correlated to the diminished microglia barrier, an effect most pronounced at earlier stages of amyloid deposition. We also found that Trem2 deficiency significantly decreased plaque-associated APOE protein in APP/E4 but not in APP/E3 mice in agreement with RNA-seq data. Interestingly, we observed a significant decrease of Apoe mRNA expression in plaque-associated microglia of APP/E4/Trem2ko vs APP/E4 mice. The absence of TREM2, worsened cognitive performance in APP transgenic mice but not their WT littermates.

Gene expression analysis identified Trem2 signature - a cluster of highly connected immune response genes, commonly downregulated as a result of Trem2 deletion in all genotypes including APP and WT littermates. Furthermore, we identified sets of genes that were affected in TREM2- and APOE isoform-dependent manner. Among them were Clec7a and Csf1r upregulated in APP/E4 vs APP/E3 mice, a result further validated by in situ hybridization analysis. In contrast, Tyrobp and several genes involved in the C1Q complement cascade had a higher expression level in APP/E3 versus their APP/E4 counterparts.

Conclusions

Our data demonstrate that lack of Trem2 differentially impacts the phenotype and brain transcriptome of APP mice expressing human APOE isoforms. The changes probably reflect the different effect of APOE isoforms on amyloid deposition.
Apgar score or birthweight in Chihuahua dogs born by elective Caesarean section: which is the best predictor of the survival at 24 h after birth?
Authors: Fusi Jasmine , Faustini Massimo , Bolis Barbara , Veronesi Maria Cristina
Published: July 2020

Background

In the dog, the correct management of parturition and the prompt neonatal evaluation and assistance can reduce the perinatal mortality rates that are particularly high in toy breeds. Newborn evaluation and factors addressing prognosis are pivotal to guarantee the correct neonatal assistance. Assessment of the Apgar score with viability classification and birthweight are recognized as predictors for neonatal survival in dogs, but breed-specific data are needed for a more feasible application in the dog species, in which wide differences among breeds are known. The present study aimed therefore to: (a) assess the role of Apgar score and birthweight as predictors for the survival of Chihuahua newborn puppies in the first 24 h of life; (b) to assess a cut-off of the Apgar score and birthweight values that can predict the survival of Chihuahua newborn puppies in the first 24 h after birth; (c) to assess the possible effect played by maternal parity, newborn gender and litter-size on Apgar score in Chihuahua newborn puppies, in order to provide breed-specific data for a better neonatal assistance.

Results

Data obtained from 176 normal developed Chihuahua puppies born by elective Caesarean section, showed that 62%, 28% and 10% of puppies were classified in the Apgar score classes 7–10, 4–6 and 0–3, respectively, with survival at 24 h after birth of 97%, 96%, 39%, in the three Apgar classes of viability, respectively. Apgar score was a better predictor for survival at 24 h after birth than birthweight (AUC 0.93, P < 0.0001; AUC 0.69, P < 0.01, respectively). Litter-size of 7 puppies/litter plays a negative effect on Apgar score. Apgar score is a better predictor of survival at 24 h than birthweight, and the best cut-off of Apgar score for survival at 24 h after birth is 4, with 96% sensitivity and 77% specificity.

Conclusions

The different proportion of “normal viable” and “less viable” neonates in comparison to other studies highlights that Chihuahua puppies born by elective Caesarean section should be carefully evaluated at birth to provide correct assistance.
13q deletion syndrome resulting from balanced chromosomal rearrangement in father: the significance of parental karyotyping
Authors: Dittner-Moormann Sabine , Reschke Madlen , Biewald Eva , Kuechler Alma , Klein Barbara , Timmermann Beate , Lohmann Dietmar , Ketteler Petra , Kanber Deniz
Published: July 2020

Background

Retinoblastoma is a malignancy of the eye in children characterized by biallelic inactivation of the retinoblastoma 1 gene (RB1), located at chromosome 13q14.2. Children with interstitial chromosome 13q deletions that include the RB1 gene show a predisposition to develop retinoblastoma and variable other features. Large 13q deletions with severe clinical phenotype are nearly always the result of a de novo mutation, i.e. the pathogenic alteration is not detected in parents. This results in a low risk for siblings to develop 13q deletion syndrome.

Result

Here, we describe a patient with profound muscle hypotonia, severe developmental delay and bilateral retinoblastoma carrying a large deletion in 13q13.3q14 with the size of 16 Mb, involving the RB1 gene. Neither parent showed retinoblastoma, muscle hypotonia or developmental delay. Chromosome analysis and Fluorescence in situ hybridization (FISH) showed a balanced complex chromosomal rearrangement (CCR) between chromosome 12 and 13 [ins(12;13)(q21.2;q12.3q14.3)] and an additional balanced translocation of chromosome 7 and 15 [t(7;15)(q31.2;q25.3)] in the healthy father. Malsegregation of the paternal insertional translocation involving chromosome 12 and 13 resulted in a 13q deletion syndrome of the child [46,XY,ins(12;13)(q21.2;q12.3q14.3)].

Conclusion

Balanced translocations in parents are a rare cause of de novo RB1 deletions in offspring. This case report emphasizes the need for parental chromosomal analysis and FISH in parents of children diagnosed with 13q deletion syndrome or large RB1 gene deletions to precisely determine the recurrence risk in siblings. Guidelines for genetic testing should be revised accordingly.
Engineering the transmission efficiency of the noncyclic glyoxylate pathway for fumarate production in Escherichia coli
Authors: Chen Xiulai , Ma Danlei , Liu Jia , Luo Qiuling , Liu Liming
Published: July 2020

Background

Fumarate is a multifunctional dicarboxylic acid in the tricarboxylic acid cycle, but microbial engineering for fumarate production is limited by the transmission efficiency of its biosynthetic pathway.

Results

Here, pathway engineering was used to construct the noncyclic glyoxylate pathway for fumarate production. To improve the transmission efficiency of intermediate metabolites, pathway optimization was conducted by fluctuating gene expression levels to identify potential bottlenecks and then remove them, resulting in a large increase in fumarate production from 8.7 to 16.2 g/L. To further enhance its transmission efficiency of targeted metabolites, transporter engineering was used by screening the C4-dicarboxylate transporters and then strengthening the capacity of fumarate export, leading to fumarate production up to 18.9 g/L. Finally, the engineered strain E. coli W3110△4-P(H)CAI(H)SC produced 22.4 g/L fumarate in a 5-L fed-batch bioreactor.

Conclusions

In this study, we offered rational metabolic engineering and flux optimization strategies for efficient production of fumarate. These strategies have great potential in developing efficient microbial cell factories for production of high-value added chemicals.
Stochastic recursive optimal control problem with obstacle constraint involving diffusion type control
Authors: Xu Zhenda
Published: July 2020

This paper concerns a kind of stochastic optimal control problem with recursive utility described by a reflected backward stochastic differential equation (RBSDE, for short) involving diffusion type control which covers regular control problem, singular control problem and impulse control problem. To begin with, the existence and uniqueness of solution for RBSDEs involving diffusion type control is derived. Then, for the related recursive optimal control problem with obstacle constraint, a sufficient condition to obtain the optimal regular control and diffusion type control is provided. Hence, based on the connection between RBSDE and optimal stopping problem, a class of recursive optimal mixed control problem involving diffusion type control is considered to illustrate our theoretical result, and here the explicit optimal control as well as the stopping time are obtained.
Impact of continuous low water stage on the breeding environment of Oncomelania hupensis: a case study of Poyang Lake area in China
Authors: Hu Fei , Li Qi-Yue , Dai Xiao-Feng , Li Zhao-Jun , Lv Shang-Biao , Lu Chun-Fang , Li Yi-Feng , Yuan Min , Liu Yue-Ming , Liu Ying , Lin Dan-Dan
Published: July 2020

Background

Oncomelania hupensis is the only intermediate host of Schistosoma japonicum and plays a decisive role in its transmission. The variation of water level greatly affects the reproduction and growth of snails. Therefore, in this paper, we analyze the variations of water level in the Poyang Lake region from 1993 to 2016 combined with satellite imagery to elucidate the evolution of the snail breeding environment.

Methods

By employing remote sensing data from 1993 to 2016 (April–June and September–November), the vegetation area of Poyang Lake and the vegetation area at different elevations were extracted and calculated. Moreover, the average daily water level data from the four hydrological stations (Hukou station, Xingzi station, Tangyin station and Kangshan station) which represent the typical state of Poyang Lake were collected from 1993 to 2016. The variance of the monthly mean water level, inundation time and the average area were analyzed by variance to find a significance level of α = 0.05.

Results

According to hydrological data before and after 2003, the average water level after 2003 is significantly lower than that before 2003 in Poyang Lake. After 2003, the time of inundateing the snail breeding period was later in April to June than that before 2003, while the time of wate-falling stage in September to November moved forward after 2003 than before 2003. Of them, the lowest water level affecting the breeding and growing period of O. hupensis in the northern part of Poyang Lake decreased from 11 m to 9 m. After 2003, the expansion of meadow area in the north part of Poyang Lake was mainly concentrated in the elevation of 9–11 m, and the newly increased infested-meadow in the lake area was mainly concentrated in the north part of Poyang Lake.

Conclusions

By comparing the change of water level characteristics in different parts of the Poyang Lake area as well as changes in meadow area before and after 2003, it is found that the water level changes mainly affect the snail breeding area in the northern part of Poyang Lake. The results are helpful for improving scientific measures for snail control in Jiangxi Province. This approach could also be applicible to Dongting Lake area and other lake areas affected by water level changes and can bring significant guidance for snail control in lake areas.
Imported Mansonella perstans infection in Spain
Authors: Puente Sabino , Lago Mar , Subirats Mercedes , Sanz-Esteban Ismael , Arsuaga Marta , Vicente Belén , Alonso-Sardon Montserrat , Belhassen-Garcia Moncef , Muro Antonio
Published: July 2020

Background

Mansonella perstans infection can be considered one of the most neglected tropical infectious diseases. Very few studies have reported on the clinical picture caused by infection with this nematode. Therefore, our study was aimed to describe the clinical patterns and treatment of imported M. perstans infection by migrants from Africa.

Methods

The present study evaluated a large cohort of migrants who have been diagnosed, examined and treated for imported M. perstans infection at a Spanish reference center (Hospital Carlos III Tropical Medicine Unit, Madrid, Spain) over a 19-year period. Most patients voluntarily attend the emergency unit or are referred from primary care or general hospitals in Madrid. Chi-square test was used to compare the association between categorical variables. The continuous variables were compared by Student’s t-test or the Mann–Whitney test. The corresponding regression models were used for multivariate analysis.

Results

Five hundred three cases of migrants from tropical and subtropical areas with M. perstans infection were identified. Two hundred sixty-four patients were female (52.5%). The mean age (± SD) was 44.6 ± 18.2 years (range: 16–93 years). The mean time (± SD) between the arrival in Spain and the first consultation was 8.6 ± 18.0 months. The major origin of the patients was Equatorial Guinea (97.6%). Regarding the clinical picture, 257 patients were asymptomatic (54.7%) and 228 were symptomatic (45.3%); 190 patients had pruritus (37.8%), 50 (9.9%) had arthralgia, 18 patients had Calabar-like swelling (3.6%), and 15 (3%) had abdominal pain. Four hundred forty-two (87.9%) migrants had hyper-IgE, and 340 (67.6%) had eosinophilia. One hundred ninety-five patients had coinfections with other filarial nematodes (38.8%), and 308 migrants had only M. perstans infection (61.2%). Four hundred thirty-seven cases (86.9%) had been treated with anti-filarial drugs; 292 cases were treated with one anti-filarial drug, and 145 cases were treated with combined anti-filarial therapy. Additionally, 20 (4%) cases received steroids and 38 (7.6%) cases received antihistamines.

Conclusions

A long series of M. perstans infections is presented in sub-Saharan immigrants whose data indicate that it should be included in the differential diagnosis in patients with pruritus or analytical alterations such as eosinophilia or hyper-IgE presentation, and they also have a high number of coinfections with other microorganisms whose treatment needs to be protocolized.
Mass-forming pancreatitis versus pancreatic ductal adenocarcinoma: CT and MR imaging for differentiation
Authors: Schima Wolfgang , Böhm Gernot , Rösch Christiane S. , Klaus Alexander , Függer Reinhold , Kopf Helmut
Published: July 2020

Various inflammatory abnormalities of the pancreas can mimic pancreatic ductal adenocarcinoma (PDAC) at cross-sectional imaging. Misdiagnosis of PDAC at imaging may lead to unnecessary surgery. On the other hand, chronic pancreatitis (CP) bears a greater risk of developing PDAC during the course of the disease. Thus, differentiation between mass-forming chronic pancreatitis (MFCP) and PDAC is important to avoid unnecessary surgery and not to delay surgery of synchronous PDAC in CP.

Imaging features such as the morphology of the mass including displacement of calcifications, presence of duct penetrating, sign appearance of duct stricturing, presence or absence of vessel encasement, apparent diffusion coefficient (ADC) value and intravoxel incoherent motion (IVIM) at diffusion-weighted imaging (DWI), fluorodeoxyglucose (FDG) uptake in PET/CT, and mass perfusion parameters can help to differentiate between PDAC and MFCP. Correct interpretation of imaging features can appropriately guide biopsy and surgery, if necessary. This review summarizes the relevant computed tomography (CT) and magnetic resonance imaging (MRI) features that can help the radiologist to come to a confident diagnosis and to guide further management in equivocal cases.
The persistence of reading and math proficiency: the benefits of Alabama’s pre-kindergarten program endure in elementary and middle school
Authors: Preskitt J. , Johnson H. , Becker D. , Ernest J. , Fifolt M. , Adams J. , Strichik T. , Ross J. , Sen B.
Published: July 2020

Preschool programs provide opportunities to improve early childhood educational outcomes as well as long-term outcomes, such as improved educational attainment, improved socioeconomic status, and improved health in adulthood. However, recent studies of long-term impacts have shown equivocal results, with some educational gains occurring immediately following participation in preschool that diminish or “fadeout” over time. The purpose of this study was to use multivariable linear regression and school fixed effects to determine the impact of Alabama’s First Class Pre-K (FCPK) program on reading and math proficiency. In an effort to test for fadeout, a second multivariable linear regression was used with an additional interaction term of FCPK receipt with time since receipt, to assess for changes in the impact of FCPK as children progress from 3rd grade to 7th grade. Results indicate that children who received FCPK were statistically significantly more likely to be proficient in both math and reading compared to students who did not receive FCPK. Further, there was no statistical evidence of fadeout of the benefits of FCPK through the 7th grade, indicating the persistence of the benefits of FCPK into middle school.
Engagement intervention versus treatment as usual for young adults with serious mental illness: a randomized pilot trial
Authors: Munson Michelle R. , Jaccard James J. , Scott Lionel D. , Narendorf Sarah C. , Moore Kiara L. , Jenefsky Nadia , Cole Andrea , Davis Maryann , Gilmer Todd , Shimizu Rei , Pleines Kristin , Cooper Kamilyah , Rodwin Aaron H. , Hylek Lindsay , Amaro Angel
Published: July 2020

Background

Young adults have elevated rates of mental health disorders, yet they often do not receive consistent care. The challenge of continuing to engage young adults has been pervasive worldwide. Few engagement interventions have been designed for young adults with serious mental illness.Just Do Youis a theoretically guided engagement intervention. It uses innovative modalities (i.e., technology, expressive arts activities, narrative expression, mentoring) to engage participants in conversations about services and how they work, while simultaneously orienting them to treatment.

Methods/design

This pilot and feasibility study utilizes a hybrid research design, examining feasibility, acceptability, and preliminary impact, alongside implementation. The study combines qualitative methods, a small pilot randomized trial, and a small cost-benefit analysis. Respondents are clinic staff and young adults who have made initial contact with the Personalized Recovery Oriented Services (PROS) program. Quantitative survey data are collected at baseline, 2 weeks (post-intervention), 1 month, and 3 months. The assessments focus on measuring feasibility, acceptability, engagement, and mental health outcomes. Medical record extraction will be used to triangulate self-report data. We will conduct single degree of freedom contrasts to examine whetherJust Do Youleads to improved outcomes relative to Treatment-As-Usual using robust regression for each outcome measure. We will examine whether changes in the proposed mediating variables occur across groups using a similar contrast strategy. In addition, we will use structural equation modeling to examine the contribution of mediators to ultimate outcomes. Finally, we will use constant comparison coding techniques for qualitative analyses.

Discussion

The aim of this study is to examine the feasibility of a young adult engagement meta-intervention through an intensive preliminary pilot trial, learning through collaboration with stakeholders.Just Do Youhas the potential to fill a gap in the service system for young adults with serious mental illnesses, improving the seemingly intractable problem of disengagement. The program uses culturally responsive strategies, is recovery-oriented, and builds upon the best evidence to date. Our efforts align with local and national health care reform efforts embedding people with lived experience.

Trial registration

This trial was registered with ClinicalTrials.gov (Identifier:NCT03423212) on April 18, 2018, as Protocol Record R34 MH111861-01, New York University, as theJust Do YouProgram for Young Adults with Serious Mental Illness
Public awareness, knowledge, and attitude toward Alzheimer’s disease in Aseer region, Saudi Arabia
Authors: Alhazzani Adel Ali , Alqahtani Ali Mohammed , Alqahtani Mohammed Saeed , Alahmari Tariq Mohammed , Zarbah Abdulmajeed Abdullah
Published: July 2020

Background

Alzheimer’s disease (AD) is a major public health problem and represents commonest form of dementia that affects many aspects of brain functions and contributes to 60–70% of dementia cases. No study has been conducted in Saudi Arabia to measure the prevalence of AD. However, approximately there are at least 50,000 patients in Saudi Arabia based on an expert’s estimation.Public knowledge and awareness about Alzheimer’s disease are crucial for early diagnosis and management.

Objective

To investigate the public’s knowledge and attitudes toward Alzheimer’s disease in Aseer region.

Subject and methods

Cross-sectional study has employed an electronic online, semi-structured, and self-administered questionnaire, randomly distributed among participants. The questions included sociodemographics, attitudes, and knowledge panels toward Alzheimer’s disease based on Alzheimer’s Disease Knowledge Scale (ADKS).

Results

The study included 1374 participants with a mean age 33 ± 11 years (ages18–70). The majority of the participants (77%) had no family history with Alzheimer’s disease. Less than 50% of the questions were answered correctly and the mean knowledge score was 10.77 ± 5.11. The results revealed that young-aged participants, females, and those having a family history of the disease, have significantly (P< 0.05) better AD-related knowledge.

Conclusion

The study revealed an inadequate AD-related knowledge as indicated by the low mean knowledge score. However, participants have demonstrated a positive attitude toward AD patients. More educational programs are required to enhance their awareness and knowledge about AD.
Fragmented QRS complex frequency and location as predictor of cardiogenic shock and mortality following acute coronary syndrome
Authors: Younis Ahmad Salah , El-Halag Moataz Ibrahim , ElBadry Mahmoud Ali , Abbas Nora Ismail Mohamed
Published: July 2020

Background

Worldwide, coronary heart disease (CHD) is topping the foremost important chief causes of mortality. Fragmented QRS (f-QRS) is a pattern of QRS complex in 12 leads surface ECG which showed a promising value in predicting the outcome in cardiac diseases including ischemic heart disease.

We aimed to research the importance of using f-QRS as a non-invasive and cheap tool for the prediction of cardiogenic shock and mortality in acute coronary syndrome (ACS).

Methods

A retrospective study includes eighty four critically ill ACS patients. Patients were classified consistent with the presence or absence of fragmented QRS into two groups (46 and 38 patients respectively). Exclusion criteria include past history of important ischemic events (MI, PCI, and CABG), permanent AF, and/or cardiomyopathy.

No statistical significant differences were detected between the 2 groups as regards the age, gender, major risk factors of ischemic heart condition, cardiac bio-markers, Killip class, LVEF, updated GRACE risk score of ACS, and in-hospital mortality.

Results

A number value of f-QRS leads > 3 yields sensitivity and specificity (83.3% and 72.5% respectively) for predicting hospital mortality. The f-QRS group was further split-up according to the numbers of f-QRS leads into 2 subgroups; subgroup (A1) including patients with > 3 f-QRS leads and subgroup (A2) including patients ≤ 3 f-QRS leads. Subgroup (A2) showed considerable difference as regards some important variables including a higher SBP (P = 0.016), a slower HR (P = 0.014), a lower up-dated GRACE risk score (3.22 ± 6.95 vs 6.81 ± 12, P value 0.048), and a lower rate of hospital death (1/30 vs. 5/16, P = 0.015). Anterior f-QRS showed statistically significant higher HR, lower SBP, a higher frequency of shock, a higher updated GRACE risk score, and a higher chance of in-hospital mortality (P = 0.004) compared to non-anterior f-QRS.

Conclusion

The position and number of f-QRS leads provide a non-invasive and a readily accessible tool to predict the prognosis, occurrence of cardiogenic shock, and in-hospital mortality.
An introduction to clinical ethics in psychiatry
Authors: Adshead Gwen , Cave Jeremy
Published: July 2020

The Royal College of Psychiatrists’ continuing professional development (CPD) module on clinical ethics in psychiatry by Pearce & Tan describes some common ethical dilemmas in psychiatric practice and the work of clinical ethics committees in analysing these dilemmas. In this article we build upon their work and offer additional exploration of the nature of ethical dilemmas in psychiatry. We also build upon the models of reasoning that are described in the module and suggest ways for psychiatrists to think about ethical dilemmas when a clinical ethics committee is not available.