bluuebunny/crossref_metadata_2025_split huggingface dataset:
Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation
Authors: Bekri Soumeya , Kispal Gyula , Lange Heike , Fitzsimons Edward , Tolmie John , Lill Roland , Bishop David F. 
Published: October 2019

AbstractThe human protein ABC7 belongs to the adenosine triphosphate-binding cassette transporter superfamily, and its yeast orthologue, Atm1p, plays a central role in the maturation of cytosolic iron-sulfur (Fe/S) cluster-containing proteins. Previously, a missense mutation in the human ABC7 gene was shown to be the defect in members of a family affected with X-linked sideroblastic anemia with cerebellar ataxia (XLSA/A). Here, the promoter region and the intron/exon structure of the human ABC7 gene were characterized, and the function of wild-type and mutant ABC7 in cytosolic Fe/S protein maturation was analyzed. The gene contains 16 exons, all with intron/exon boundaries following the AG/GT rule. A single missense mutation was found in exon 10 of the ABC7gene in 2 affected brothers with XLSA/A. The mutation was a G-to-A transition at nucleotide 1305 of the full-length cDNA, resulting in a charge inversion caused by the substitution of lysine for glutamate at residue 433 C-terminal to the putative sixth transmembrane domain of ABC7. Expression of normal ABC7 almost fully complemented the defect in the maturation of cytosolic Fe/S proteins in a yeast strain in which the ATM1 gene had been deleted (Δatm1 cells). Thus, ABC7 is a functional orthologue of Atm1p. In contrast, the expression of mutated ABC7 (E433K) or Atm1p (D398K) proteins in Δatm1 cells led to a low efficiency of cytosolic Fe/S protein maturation. These data demonstrate that both the molecular defect in XLSA/A and the impaired maturation of a cytosolic Fe/S protein result from an ABC7 mutation in the reported family.
Molecular evidence of organ-related transmission of Kaposi sarcoma–associated herpesvirus or human herpesvirus-8 in transplant patients
Authors: Luppi Mario , Barozzi Patrizia , Santagostino Gaia , Trovato Raffaella , Schulz Thomas F. , Marasca Roberto , Bottalico Davide , Bignardi Lucia , Torelli Giuseppe 
Published: October 2019

Abstract
In transplant patients, Kaposi sarcoma (KS)-associated herpesvirus or human herpesvirus-8 (HHV-8) infection is associated with the development of KS, primary effusion lymphoma and Castleman disease. Whether HHV-8 is either reactivated in the recipient or transmitted by the donor has been investigated so far only by serologic studies. Thus, we addressed the issue of HHV-8 transmission in the transplantation setting by molecular methods. We exploited the high level variability of the orf-K1 gene and the polymorphism of theorf-73 gene of the HHV-8 genome to assess the genetic relatedness of the HHV-8 strains identified in the posttransplant KS lesions that developed, simultaneously, 20 months after transplantation, in 2 recipients of twin kidneys from the same cadaver donor. The 100% identity of nucleotide sequence of the most variable viral region and the presence of the same, singleorf-73 type in both patients provides strong molecular evidence of organ-related transmission of HHV-8 in the setting of transplantation.
B waves: a systematic review of terminology, characteristics, and analysis methods
Authors: Martinez-Tejada Isabel , Arum Alexander , Wilhjelm Jens E. , Juhler Marianne , Andresen Morten 
Published: October 2019

Abstract

Background

Although B waves were introduced as a concept in the analysis of intracranial pressure (ICP) recordings nearly 60 years ago, there is still a lack consensus on precise definitions, terminology, amplitude, frequency or origin. Several competing terms exist, addressing either their probable physiological origin or their physical characteristics. To better understand B wave characteristics and ease their detection, a literature review was carried out.

Methods

A systematic review protocol including search strategy and eligibility criteria was prepared in advance. A literature search was carried out using PubMed/MEDLINE, with the following search terms: B waves + review filter, slow waves + review filter, ICP B waves, slow ICP waves, slow vasogenic waves, Lundberg B waves, MOCAIP.

Results

In total, 19 different terms were found, B waves being the most common. These terminologies appear to be interchangeable and seem to be used indiscriminately, with some papers using more than five different terms. Definitions and etiologies are still unclear, which makes systematic and standardized detection difficult.

Conclusions

Two future lines of action are available for automating macro-pattern identification in ICP signals: achieving strict agreement on morphological characteristics of “traditional” B waveforms, or starting a new with a fresh computerized approach for recognition of new clinically relevant patterns.
The experiences of lay health workers trained in task-shifting psychological interventions: a qualitative systematic review
Authors: Shahmalak Ujala , Blakemore Amy , Waheed Mohammad W. , Waheed Waquas 
Published: October 2019

Abstract

Introduction
The prevalence of common mental disorders, such as depression and anxiety, is high and the demand for psychological interventions and talking therapies is increasing. In order to meet this need, it is necessary to explore alternative methods to deliver talking therapies. Training lay health workers (LHWs) to deliver psychological interventions might be one possible solution to address current gaps in service provision. A number of studies have successfully used this approach to deliver psychological interventions in order to meet the demand for mental health care. Despite increased interest in this area, the evidence has not been synthesised or systematically reviewed.

Methods
Electronic databases (MEDLINE, EMBBASE, PsycINFO and CINHAL) were systematically searched to specifically capture studies on task-shifting psychological interventions for common mental disorders. Data were extracted on the experiences of the lay-workers on training and therapy delivery. Thematic analysis was used to analyse the data. Themes and subthemes of LHWs views on receiving training, barriers and facilitators to therapy delivery, factors required to become a successful therapist and the impact of training and therapy delivery on the therapists are described.

Results
10 studies were eligible for inclusion. Key messages were: LHWs were satisfied with training but wanted more robust supervision; not enough time was given to training on understanding mental health problems; LHWs grew in confidence and this impacted on their personal relationships with others.

Conclusion
This is the first review to explore LHWs experiences in training and therapy delivery by synthesising existing qualitative research. A number of key messages derived out of this review can help in further improving the quality of the training programmes and highlighting the benefits that are available for the LHW in delivering psychological interventions.
Aminoacyl tRNA synthetases as potential drug targets of the Panthera pathogen Babesia
Authors: Chhibber-Goel Jyoti , Joshi Sarthak , Sharma Amit 
Published: October 2019

AbstractBackgroundA century ago, pantheras were abundant across Asia. Illegal hunting and trading along with loss of habitat have resulted in the designation ofPantheraas a genus of endangered species. In addition to the onslaught from humans, pantheras are also susceptible to outbreaks of several infectious diseases, including babesiosis. The latter is a hemoprotozoan disease whose causative agents are the eukaryotic parasites of the apicomplexan genusBabesia. Babesiosis affects a varied range of animals including humans (Homo sapiens), bovines (e.g.Bos taurus), pantheras (e.g.Panthera tigris,P. leo,P. pardus) and equines.Babesiaspp. are transmitted by the tick vectorIxodes scapularisor ticks of domestic animals, namelyRhipicephalus(Boophilus)microplusandR.(B.)decoloratus. At the level of protein translation within these organisms, the conserved aminoacyl tRNA synthetase (aaRS) family offers an opportunity to identify the sequence and structural differences in the host (Panthera) and parasites (Babesiaspp.) in order to exploit these for drug targetingBabesiaspp.MethodsUsing computational tools we investigated the genomes ofBabesiaspp. andPanthera tigrisso as to annotate their aaRSs. The sequences were analysed and their subcellular localizations were predicted using Target P1.1, SignalP 3.0, TMHMM v.2.0 and Deeploc 1.0 web servers. Structure-based analysis of the aaRSs fromP. tigrisand its protozoan pathogensBabesiaspp. was performed using Phyre2 and chimera.ResultsWe identified 33 (B. bovis), 34 (B. microti), 33 (B. bigemina) and 33 (P. tigris) aaRSs in these respective organisms. Poor sequence identity (~ 20–50%) between aaRSs fromBabesiaspp. andP. tigriswas observed and this merits future experiments to validate new drug targets againstBabesiaspp.ConclusionsOverall this work provides a foundation for experimental investigation of druggable aaRSs fromBabesiasp. in an effort to control Babesiosis inPanthera.
Plasminogen Activator Inhibitor-1 (PAI-1) deficiency predisposes to depression and resistance to treatments
Authors: Party Hélène , Dujarrier Cléo , Hébert Marie , Lenoir Sophie , Martinez de Lizarrondo Sara , Delépée Raphaël , Fauchon Claudine , Bouton Marie-Christine , Obiang Pauline , Godefroy Olivier , Save Etienne , Lecardeur Laurent , Chabry Joëlle , Vivien Denis , Agin Véronique 
Published: October 2019

Abstract
Major depressive disorder (MDD) is one of the most frequent psychiatric illnesses, leading to reduced quality of life, ability to work and sociability, thus ranking among the major causes of disability and morbidity worldwide. To date, genetic and environmental determinants of MDD remain mostly unknown. Here, we investigated whether and how the Plasminogen Activator Inhibitor-1 (PAI-1) may contribute to MDD. We first examined the phenotype of PAI-1 knockout (PAI-1−/−) and wild-type (PAI-1+/+) male mice with a range of behavioral tests assessing depressive-like behaviors (n = 276). We next investigated the mechanisms relating PAI-1 to MDD using molecular, biochemical and pharmacological analyzes. We demonstrate here that PAI-1 plays a key role in depression by a mechanism independent of the tissue-type Plasminogen Activator (tPA) – Brain-Derived Neurotrophic Factor (BDNF) axis, but associated with impaired metabolisms of serotonin and dopamine. Our data also reveal that PAI-1 interferes with therapeutic responses to selective serotonin reuptake inhibitors (escitalopram, fluoxetine). We thus highlight a new genetic preclinical model of depression, with the lack of PAI-1 as a factor of predisposition to MDD. Altogether, these original data reveal that PAI-1 should be now considered as a key player of MDD and as a potential target for the development of new drugs to cure depressive patients resistant to current treatments.
Quantification of occlusions influencing the tree stem curve retrieving from single-scan terrestrial laser scanning data
Authors: Wan Peng , Wang Tiejun , Zhang Wuming , Liang Xinlian , Skidmore Andrew K. , Yan Guangjian 
Published: October 2019

Abstract

Background
The stem curve of standing trees is an essential parameter for accurate estimation of stem volume. This study aims to directly quantify the occlusions within the single-scan terrestrial laser scanning (TLS) data, evaluate its correlation with the accuracy of the retrieved stem curves, and subsequently, to assess the capacity of single-scan TLS to estimate stem curves.

Methods
We proposed an index, occlusion rate, to quantify the occlusion level in TLS data. We then analyzed three influencing factors for the occlusion rate: the percentage of basal area near the scanning center, the scanning distance and the source of occlusions. Finally, we evaluated the effects of occlusions on stem curve estimates from single-scan TLS data.

Results
The results showed that the correlations between the occlusion rate and the stem curve estimation accuracies were strong (r = 0.60–0.83), so was the correlations between the occlusion rate and its influencing factors (r = 0.84–0.99). It also showed that the occlusions from tree stems were the main factor of the low detection rate of stems, while the non-stem components mainly influenced the completeness of the retrieved stem curves.

Conclusions
Our study demonstrates that the occlusions significantly affect the accuracy of stem curve retrieval from the single-scan TLS data in a typical-size (32 m × 32 m) forest plot. However, the single-scan mode has the capacity to accurately estimate the stem curve in a small forest plot (< 10 m × 10 m) or a plot with a lower occlusion rate, such as less than 35% in our tested datasets. The findings from this study are useful for guiding the practice of retrieving forest parameters using single-scan TLS data.
Prevalence of CYP17A1 gene mutations in 17α-hydroxylase deficiency in the Chinese Han population
Authors: Wang Menglin , Wang Hao , Zhao Haiying , Li Ling , Liu Min , Liu Fujia , Meng Fansen , Fan Caini 
Published: October 2019

Abstract

Background
17α-hydroxylase deficiency is a rare autosomal recessive disorder caused by mutations in the cytochrome P450 family 17 subfamily A member 1 gene. The major clinical presentation includes hypertension, hypokalemia, male pseudohermaphroditism and female gonadal dysplasia. Hundreds of pathogenic variants have been reported in this disorder, and some common mutations were found to be race-specific.

Case presentation
In this study, we reported 5 Chinese girls with 17α-hydroxylase deficiency from Henan Province. The patients all came to the hospital for hypertension, and they also presented with sexual infantilism. The average age of the patients was 14 years old, ranging from 12 to 17 years old. They all had reduced blood cortisol, estradiol (E2), and testosterone (TESTO) and increased adrenocorticotropic hormone (ACTH), follicle-stimulating hormone (FSH), and luteinizing hormone (LH). They all had the appearance of females; however, three of the chromosome karyotypes were 46XX, and two were 46XY.

Conclusions
All of the patients carried a mutation on the 329 amino acid of CYP17A1 exon 6. By summarizing the currently known pathogenic mutations of 17α-hydroxylase deficiency, we demonstrated the prevalence of these gene mutations in Chinese Han and non-Chinese populations.
First diagnosis of psychosis in the prison: results from a data-linkage study
Authors: Chowdhury Nabila Z. , Albalawi Olayan , Wand Handan , Adily Armita , Kariminia Azar , Allnutt Stephen , Sara Grant , Dean Kimberlie , Lappin Julia , O'Driscoll Colman , Grant Luke , Schofield Peter W. , Greenberg David , Butler Tony 
Published: October 2019

Background
Psychosis is more prevalent among people in prison compared with the community. Early detection is important to optimise health and justice outcomes; for some, this may be the first time they have been clinically assessed.

Aims
Determine factors associated with a first diagnosis of psychosis in prison and describe time to diagnosis from entry into prison.

Method
This retrospective cohort study describes individuals identified for the first time with psychosis in New South Wales (NSW) prisons (2006–2012). Logistic regression was used to identify factors associated with a first diagnosis of psychosis. Cox regression was used to describe time to diagnosis from entry into prison.

Results
Of the 38 489 diagnosed with psychosis for the first time, 1.7% (n = 659) occurred in prison. Factors associated with an increased likelihood of being diagnosed in prison (versus community) were: male gender (odds ratio (OR) = 2.27, 95% CI 1.79–2.89), Aboriginality (OR = 1.81, 95% CI 1.49–2.19), older age (OR = 1.70, 95% CI 1.37–2.11 for 25–34 years and OR = 1.63, 95% CI 1.29–2.06 for 35–44 years) and disadvantaged socioeconomic area (OR = 4.41, 95% CI 3.42–5.69). Eight out of ten were diagnosed within 3 months of reception.

Conclusions
Among those diagnosed with psychosis for the first time, only a small number were identified during incarceration with most identified in the first 3 months following imprisonment. This suggests good screening processes are in place in NSW prisons for detecting those with serious mental illness. It is important these individuals receive appropriate care in prison, have the opportunity to have matters reheard and possibly diverted into treatment, and are subsequently connected to community mental health services on release.

Declaration of interest
None.
Follow-Up of Patients With Complete Remission of Locally Advanced Basal Cell Carcinoma After Vismodegib Discontinuation: A Multicenter French Study of 116 Patients
Authors: Herms Florian , Lambert Jerome , Grob Jean-Jacques , Haudebourg Luc , Bagot Martine , Dalac Sophie , Dutriaux Caroline , Guillot Bernard , Jeudy Geraldine , Mateus Christine , Monestier Sandrine , Mortier Laurent , Poulalhon Nicolas , Prey Sorilla , Robert Caroline , Vabres Pierre , Lebbe Celeste , Meyer Nicolas , Basset-Seguin Nicole 
Published: October 2019

PURPOSE Vismodegib is a hedgehog pathway inhibitor indicated for the treatment of locally advanced basal cell carcinoma (laBCC), with an objective response rate of 65%, including a 32% complete response (CR). However, adverse effects often lead to drug discontinuation. The objective of our study was to evaluate long-term responses, predictive factors, and management of relapse after vismodegib discontinuation. METHODS An observational retrospective study was conducted in nine French oncodermatology units. We included patients with laBCC with CR on vismodegib who discontinued treatment between March 2012 and January 2016; we reviewed charts up to June 2016. The primary objective was to evaluate median relapse-free survival (RFS). Secondary objectives were risk factors associated with RFS, relapse, and death and treatment modalities after relapse and their efficacy. RESULTS One hundred sixteen patients with laBCC were included. The median RFS was 18.4 months (95% CI, 13.5 to 24.8 months). The RFS rate at 36 months was 35.4% (95% CI, 22.5% to 47.9%) for the total population and 40.0% (95% CI, 25.7% to 53.7%) for patients without Gorlin syndrome. LaBCC to the limbs and trunk was the only variable independently associated with a higher risk of relapse (hazard ratio, 2.77; 95% CI, 1.23 to 6.22; P = .019). Twenty-seven patients (50%) who experienced relapse during follow-up were retreated with vismodegib, with an objective response in 23 (objective response rate, 85%; CR rate, 37%; partial response rate, 48%) and eligibility for surgery in 24 (42%). CONCLUSION Long-term response after vismodegib discontinuation is frequent. Most patients who experience a relapse still respond to vismodegib rechallenge.
High-fat Overfeeding Does Not Exacerbate Rapid Changes in Forearm Glucose and Fatty Acid Balance During Immobilization
Authors: Dirks Marlou L , Wall Benjamin T , Otten Britt , Cruz Ana M , Dunlop Mandy V , Barker Alan R , Stephens Francis B 
Published: October 2019

Abstract

Context
Physical inactivity and high-fat overfeeding have been shown to independently induce insulin resistance.

Objective
Establish the contribution of muscle disuse and lipid availability to the development of inactivity-induced insulin resistance.

Design, Setting, Participants, and Interventions
20 healthy males underwent 7 days of forearm cast immobilization combined with a fully controlled eucaloric diet (n = 10, age 23 ± 2 yr, body mass index [BMI] 23.8 ± 1.0 kg·m-2) or a high-fat diet (HFD) providing 50% excess energy from fat (high-fat diet, n = 10, age 23 ± 2 yr, BMI 22.4 ± 0.8 kg·m-2).

Main Outcome Measures
Prior to casting and following 2 and 7 days of immobilization, forearm glucose uptake (FGU) and nonesterified fatty acid (NEFA) balance were assessed using the arterialized venous–deep venous (AV-V) forearm balance method following ingestion of a mixed macronutrient drink.

Results
7 days of HFD increased body weight by 0.9 ± 0.2 kg (P = 0.002), but did not alter fasting, arterialized whole-blood glucose and serum insulin concentrations or the associated homeostatic model assessment of insulin resistance or Matsuda indices. Two and 7 days of forearm immobilization led to a 40 ± 7% and 52 ± 7% decrease in FGU, respectively (P &lt; 0.001), with no difference between day 2 and 7 and no effect of HFD. Forearm NEFA balance tended to increase following 2 and 7 days of immobilization (P = 0.095).

Conclusions
Forearm immobilization leads to a rapid and substantial decrease in FGU, which is accompanied by an increase in forearm NEFA balance but is not exacerbated by excess dietary fat intake. Altogether, our data suggest that disuse-induced insulin resistance of glucose metabolism occurs as a physiological adaptation in response to the removal of muscle contraction.
Effects of evidence-based clinical practice guidelines in cardiovascular health care quality improvements: A systematic review
Authors: Ramírez-Morera Anggie , Tristan Mario , Vazquez Juan Carlos 
Published: October 2019

Background: The development of evidence-based clinical practice guidelines (EB-CPGs) has increasing global growth; however, the certainty of impact on patients and health systems, as well as the magnitude of the impact, is not apparent. The objective of this systematic review was to assess the effectiveness of the application of EB-CPGs for the improvement of the quality of health care in three dimensions: structure, process and results in the patient for the management of cardiovascular disease. Methods: We followed the methods described by the Cochrane Handbook and present a descriptive analysis because of the high heterogeneity found across the included studies. We searched the Cochrane Central Register of Controlled Trials, MEDLINE and EMBASE databases, as well as the grey literature, between 1990 and June 2016. No language restrictions were applied. Only randomised clinical trials (RCTs) were selected. Three authors independently carried out the data extraction, using a modified version of the Cochrane Effective Practice and Organization of Care form. Results: Of the total of 84 interventions included in the nine RCTs evaluated, three (4%) were related to health care structure, 54 (64%) to the health care delivery process and 27 (32%) to patient outcomes. Regarding the impact of using the EB-CPGs, in 55 interventions (65%), there were no significant differences between control and experimental groups. In four interventions (5%), the result favoured the control group, and the result favoured the intervention group on 25 of the interventions (30%). Conclusions: This systematic review showed that EB-CPGs could be useful to improve the process and structure of health care and, to a lesser extent, to improve the patients’ outcomes. After analysing many studies, we could have one more hypothesis for further research, which could shed more light upon those undiscovered variables that might interfere with the use of the EB-CPGs. Registration: PROSPERO CRD42013003589
An unusual presentation of oro-naso-palatal fistula
Authors: Hamid Ammar , Patel Priyanka 
Published: October 2019

This case report is of a 29-year-old male who complained of nasal escape of food and fluids through his nose for 6 months. Further questioning revealed a previous cocaine habit which has now ceased. Examination revealed a septal perforation and CT scanning revealed a 16 mm wide sagittal bone defect involving most of the hard palate as well as absence of the inferior half of the nasal septum. A diagnosis of septal perforation leading to an oro-naso-palatal fistula was made. This rather unusual presentation and clinical findings are discussed within this article. CPD/Clinical Relevance: The effects of cocaine misuse on the oral mucosa are presented.