bluuebunny/crossref_metadata_2025_split huggingface dataset:
Congenital Muscular Dystrophy and Congenital Myopathy
Authors: Butterfield Russell J. 
Published: December 2019

ABSTRACT

PURPOSE OF REVIEW
Congenital muscular dystrophies and congenital myopathies are a heterogeneous group of disorders resulting in hypotonia, muscle weakness, and dystrophic or myopathic features on muscle biopsy. This article summarizes the clinical and genetic aspects of these disorders.

RECENT FINDINGS
Historically, diagnoses of congenital muscular dystrophy and congenital myopathy have been made by clinical features and histopathology; however, recent advances in genetics have changed diagnostic practice by relying more heavily on genetic findings. This article reviews the clinical and genetic features of the most common congenital muscular dystrophies including laminin subunit alpha 2 (LAMA2)–related (merosin deficient), collagen VI–related, and α-dystroglycan–related congenital muscular dystrophies and reviews the most common congenital myopathies including nemaline rod, core, and centronuclear myopathies. With the increasing accessibility of genetic testing, the number of genes found to be associated with these disorders has increased dramatically. A wide spectrum of severity and onset (from birth to adulthood) exist across all subtypes. Progression and other features are variable depending on the subtype and severity of the specific genetic mutation.

SUMMARY
Congenital muscular dystrophy and congenital myopathy are increasingly recognized disorders. A growing appreciation for the breadth of phenotypic variability and overlap between established subtypes has challenged long-standing phenotypic and histopathologic classifications of these disorders but has driven a greater understanding of pathogenesis and opened the door to the development of novel treatments.
Approach to Muscle and Neuromuscular Junction Disorders
Authors: Pasnoor Mamatha , Dimachkie Mazen M. 
Published: December 2019

ABSTRACT

PURPOSE OF REVIEW
Muscle and neuromuscular junction disorders are a diverse group of disorders that can be difficult to diagnose. This article provides a diagnostic approach based on clinical history and neurologic examination leading to a narrow set of diagnostic tests.

RECENT FINDINGS
Numerous discoveries in recent years have facilitated clinician access to more advanced laboratory and genetic testing to pinpoint the exact diagnosis in patients with muscle or neuromuscular junction disorders. Large-scale genetic testing has become much less expensive, and free testing has become available for many of the rare conditions because of increased research and the availability of effective therapies for these rare disorders.

SUMMARY
The approach to muscle and neuromuscular junction disorders depends on the clinical pattern of muscle weakness. By classifying patients into one of 10 muscle patterns, diagnostic testing can be targeted and gene testing yield will be optimized. With the increased accessibility and reduced cost of genetic testing (eg, gene panels, whole-exome sequencing, whole-genome sequencing, and chromosomal microarray), this clinical approach to muscle weakness and targeted gene testing will ensure a cost-effective investigational plan. This clinical approach should also assist clinicians in making a timely and accurate diagnosis.
The Limb-Girdle Muscular Dystrophies
Authors: Wicklund Matthew P. 
Published: December 2019

ABSTRACT

purpose of review
As a group, the limb-girdle muscular dystrophies (LGMDs) are the fourth most prevalent genetic muscle disease, yet they are still not well known or understood. This article defines and describes LGMDs, delineates a diagnostic strategy, and discusses treatment of the LGMDs.

recent findings
In 2018, the definition of the LGMDs was further refined, and a new nomenclature was proposed. Diagnosis of the LGMDs was long guided by the distinctive clinical characteristics of each particular subtype but now integrates use of genetics—with next-generation sequencing panels, exomes, and full genome analysis—early in the diagnostic assessment. Appreciation of the phenotypic diversity of each LGMD subtype continues to expand. This emphasizes the need for precision genetic diagnostics to better understand each subtype and formulate appropriate management for individual patients. Of significant relevance, the explosion of research into therapeutic options accentuates the need for accurate diagnosis, comprehensive disease characterization, and description of the natural histories of the LGMDs to move the field forward and to mitigate disease impact on patients with LGMD.

summary
The LGMDs are genetic muscle diseases that superficially appear similar to one another but have important differences in rates of progression and concomitant comorbidities. Definitive diagnoses are crucial to guide management and treatment now and in the future. As targeted treatments emerge, it will be important for clinicians to understand the nomenclature, diagnosis, clinical manifestations, and treatments of the LGMDs.
Renal artery embolization for iatrogenic renal vascular injuries management: 5 years’ experience
Authors: Contegiacomo Andrea , Amodeo Enrico Maria , Cina Alessandro , Di stasi Carmine , Iezzi Roberto , Coppolino Davide , Attempati Nico , Manfredi Riccardo 
Published: December 2019

Objective:
Evaluate the efficacy and safety of renal artery embolization (RAE) for iatrogenic renal vascular injuries (IRVI) management at Fondazione Policlinico Universitario "A. Gemelli" IRCCS, in the last 5 years.

Methods:
Retrospective analysis of all RAE procedures performed from January 2013 to December 2017. Patients-related (age, sex, vascular variants, hemoglobin and serum creatinine), IRVI-related (type and vascular level of IRVI, presence and extension of hematoma), management-related (temporal interval between diagnostic imaging and RAE) and procedure-related (embolic materials, technical success, clinical success and complications) parameters were evaluated.

Results:
28 RAE procedures performed on 28 patients (21 males; 7 females) were included. 19/28 patients had pseudoaneurysm, 7/28 active bleeding and 1/28 arteriovenous fistula; 4/28 patients had a combination of 2 IRVI.
The extent of perirenal hematoma showed correlation with the cause of IRVI (p = 0.028).
Technical success was achieved in all patients whereas clinical success in 25/28 (89.3%), with 3 patients requiring re-treatment. Minor complications were observed during 2/28 (7.1%) endovascular procedures. No major complications occurred. A longer procedural time was observed in patients with lower pre-procedural levels of hemoglobin (p = 0.016).
No differences were found in mean serum creatinine (p = 0.23) before and immediately after treatment, while values of creatinine at 1 week from the procedure were significantly lower (p = 0.04).

Conclusion:
RAE is safe and effective for the management of iatrogenic IRVI showing high technical and clinical success rate and low complication rate.

Advances in knowledge:
Low pre-procedural hemoglobin levels increase procedural duration time. Glue alone or in combination with other materials is as safe as coils.
Safety and efficacy of percutaneous microwave ablation for post-procedural haemostasis: a bi-central retrospective study focusing on safety and efficacy
Authors: Jiang Tian’an , Kelekis Alexis , Zhao Qiyu , Mazioti Argyro , Liu Jia , Kelekis Nikolaos , Tian Guo , Filippiadis Dimitrios 
Published: December 2019

Objective:
To review safety and efficacy of percutaneous microwave ablation (MWA) for post-procedural haemostasis.

Methods:
Institutional databases retrospective research identified 10 cases of iatrogenic bleeding who underwent percutaneous MWA for post-procedural haemostasis. Ultrasound examination with Doppler and contrast enhancement identified a source of active bleeding prior to ablation; additionally they were used as guiding modality for antenna insertion whilst, post-ablation, assessed the lack of active extravasation. Target locations included liver intercostal space spleen and thyroid gland. Technical success was defined as positioning of the antenna on the desired location. Treatment end point was considered the disappearance of active extravasation in both Doppler imaging and contrast-enhanced ultrasound.

Results:
Technical success (i.e. positioning of the antenna on the desired location) was achieved in all cases. No complications were noted. All patients post MWA remained haemodynamically stable with no need for transfusion and were discharged from the hospital the next morning. Imaging and clinical follow-up in all patients before exiting the hospital did not depict any sign of active extravasation or bleeding.

Conclusion:
Our limited experience reports preliminary data showing that MWA could be added in the armamentarium of percutaneous therapies for iatrogenic bleeding. More prospective studies with larger patient samples are necessary for verification of this technique as well as for drawing broader conclusions in order to evaluate the place of percutaneous ablation in the treatment algorithm of haemorrhage.

Advances in knowledge:
Percutaneous ablation might have a role in haemostasis in well-selected cases
Infrared thermography assessment of patients with temporomandibular disorders
Authors: Barbosa JS , Amorim AMAM , Arruda MJALLA , Medeiros GBS , Freitas APLF , Vieira LEM , Melo DP , Bento PM 
Published: December 2019

Objectives: To assess patients with and without temporomandibular disorders (TMD) infrared thermography according to the differences in thermal radiance using quantitative sensitivity and specificity tests; and to evaluate the thermal asymmetry and the correlation of the thermal intensity with the intensity of pain upon palpation. Methods: This cross-sectional study performed a quantitative evaluation of clinical and thermographic examinations. The volunteers were evaluated for the presence of TMD using RDC/TMD (Diagnostic Research Criteria for Temporomandibular Disorders), and were divided into two groups: TMD group (n = 45); control group (n = 41), composed of volunteers without TMD, according to the Fonseca Anamnestic Index. The images were assessed for selected regions of interest for the masseter, anterior temporal and TMJ muscles. The mean values ​​of the areas of both groups were compared under the receiver operating characteristic curve. Spearman correlation analysis (non-parametric data) between pain level and mean temperature, by region, and the Pearson's χ2 test was used to verify the association between the presence of temperature and pain asymmetry. The level of significance was set at p < 0.05. Results: Both Groups, with and without TMD, presented with absolute and non-dimensional mean temperature without statistical differences (p>0.05). When correlating temperature with intensity of pain upon palpation, a negative correlation was observed for the masseter muscle. Conclusion: Infrared Thermography resulted in low area under the curve, making it difficult to differentiate TMD via thermographic analysis. The intensity of pain upon palpation in patients with TMD may be accompanied by a decrease in local temperature.
Determining the lx and estimating the force of mortality for children under five in Bangladesh
Authors: Islam Md. Rafiqul , Rana Md. Sohel , Hossain Md. Mosharaf , Rosy Sarkar Aziza Sultana , Mat Min Ruhani 
Published: December 2019

Background: Under-five mortality is a health indicator in population health and the health sciences. Force of death is a more accurate measure of mortality than others, which indicates the situation of mortality when time tends to zero. The purpose of this research is to construct a simulation for lx (the number of people living at exact age x) for under-five mortality in Bangladesh as a whole, and separately for rural and urban areas, and then estimating the mortality rate in regard to these matched models. Methods: Secondary data were collected from Bangladesh Demographic and Health Survey 2007. A polynomial model was selected to match the lx values. To prove the accuracy of the model, the rule of cross-validity was applied. Results: It has been shown that fourth degree polynomial models can be adjusted to lx values ​​with explanation of more than 94% variation. It was noted that the mortality rate shows a rapidly decreasing pattern for people aged 0-20 months, a monotonically increasing pattern for those aged 20-53.5 months and then it begins to decrease. It is found that the mortality rate in rural areas is higher than in urban areas of all ages. Conclusions: It has been shown that the mortality rate in rural areas is higher than for urban areas of all ages, except for those aged 53.5 months. The health situation should therefore be improved to reduce mortality in rural Bangladesh.
Case Report: Occupational therapy in a patient with an overgrowth syndrome that restricts movement
Authors: Coppeta Luca , Gentili Sandro , Papa Francesca , De Zordo Ludovico Maria , Mugnaini Stefano , Pietroiusti Antonio 
Published: December 2019

Background: Overgrowth syndromes are a heterogeneous group of conditions characterized by excessive body growth - localized or generalized - commonly associated with various malformities and an increased oncological risk. Case report: Here we present the case of a 57-year old man, employed in an office, who suffers from an asymmetric overgrowth of the lower limbs. Currently the patient presents malformations of the lower left arm (hip, knee and ankle), evident on the articular and periarticular level, where there are diffuse exostoses. This case discusses the main occupational concerns relating to the patient’s workspace at a high floor level that could create critical issues in the event of an emergency exodus. Given the impossibility of placing the patient in heavy manual activities, employment is limited to office activities. Adjustments were carried out at the patient’s workstation, and thus the patient has been recognized as fit to work. Increased frequency of breaks were prescribed in order to allow the physiological alternation of postures. Conclusions: In cases of overgrowth syndromes, the exact identification of the limitations presented by the patient and observations about ambulatory functions must be carefully evaluated in order to modulate the work environment.
Diagnostic accuracy and clinical impact of natriuretic peptide screening for the detection of heart failure in the community: a protocol for systematic review and meta-analysis
Authors: Goyder C. R. , Roalfe A. K. , Jones N. R. , Taylor K. S. , Plumptre C. D. , Fanshawe T. R. , Hobbs F. D. R. , Taylor C. J. 
Published: December 2019

Introduction: Patients diagnosed with heart failure in primary care have a better prognosis than those diagnosed in hospital. However, most cases are missed in the community. Recent attention has focussed on the potential of early detection through screening. Natriuretic peptides (NPs) are tested by GPs and used to rule out heart failure in patients presenting with symptoms. Evidence is now emerging that they may also have a role in screening but their accuracy in this context and the associated optimal thresholds, have not been established. The impact that NP screening would have on patients and health care systems also remains unclear. Methods: We aim to undertake a systematic search of the following sources: Ovid Medline, Embase, Cochrane Database of Systematic Reviews and Cochrane Central Register of Controlled Trials. Screening, data extraction and critical appraisal will be carried out independently and in duplicate by two reviewers. We will include studies based in the community with >100 participants that recruited a screened population. We will not add a study design filter and there will be no language restriction. The primary outcome will be the sensitivity and the specificity of NP screening and optimal thresholds for screening will be explored. Outcomes of interest for the impact analysis will include mortality, hospital admissions and cost effectiveness. This protocol has been developed in accordance with guidelines from the preferred reporting items for systematic review and meta-analysis protocols (PRISMA-P). Discussion: This systematic review will identify how accurately NP screen for heart failure in the community and explore where NP screening thresholds should be set. It also aims to summarise the clinical impact of this strategy. Together, these results should inform future interventions that may provide an alternative pathway to facilitate improved detection of heart failure in the community. Registration: PROSPERO CRD42018087498; registered on 11 May 2018.
Evolutionary analysis of the most polymorphic gene family in falciparum malaria
Authors: Otto Thomas D. , Assefa Sammy A. , Böhme Ulrike , Sanders Mandy J. , Kwiatkowski Dominic P. ,   Pf3k consortium, Berriman Matt , Newbold Chris 
Published: December 2019

The var gene family of the human malaria parasite Plasmodium falciparum encode proteins that are crucial determinants of both pathogenesis and immune evasion and are highly polymorphic. Here we have assembled nearly complete var gene repertoires from 2398 field isolates and analysed a normalised set of 714 from across 12 countries. This therefore represents the first large scale attempt to catalogue the worldwide distribution of var gene sequences We confirm the extreme polymorphism of this gene family but also demonstrate an unexpected level of sequence sharing both within and between continents. We show that this is likely due to both the remnants of selective sweeps as well as a worrying degree of recent gene flow across continents with implications for the spread of drug resistance. We also address the evolution of the var repertoire with respect to the ancestral genes within the Laverania and show that diversity generated by recombination is concentrated in a number of hotspots. An analysis of the subdomain structure indicates that some existing definitions may need to be revised From the analysis of this data, we can now understand the way in which the family has evolved and how the diversity is continuously being generated. Finally, we demonstrate that because the genes are distributed across the genome, sequence sharing between genotypes acts as a useful population genetic marker.
Instruments for assessing organisational capacity for use of evidence in health sector policy making: a systematic scoping review
Authors: Asgharzadeh Asra , Shabaninejad Hosein , Aryankhesal Aidin , Majdzadeh Reza 
Published: December 2019

Background
Assessing individual and organisational capacity for evidence use is essential for developing evidence-based strategies.

Aims and objectives
This study aimed to assess the psychometric and practical properties of existing tools to assess the capacity to use evidence at the individual and organisational levels of health policy and identify the best instruments.

Methods
A systematic review of the databases of ISI Web of Science, Embase, Scopus, and PubMed was conducted up to 6 June 2018. Search engines, websites of key organisations, and the reference lists of selected articles were also used to find relevant studies. The search strategy for each database was written individually. Psychometric properties were assessed using the Standards for Educational and Psychological Testing (SEPT) and pragmatic properties were assessed using the protocol proposed by Lewis et al (2018). Simple statistics were used to describe the psychometric and pragmatic properties of the identified instruments.

Results
Overall, 16 instruments were identified. SEER had the highest validity score. Reliability was estimated for 38% of the instruments. Responsiveness was assessed in only 19% of the studies. The results showed that internal consistency was reported for 40% of the articles using statistical analysis. Pragmatic properties of the studied instruments were verified; 75% usefulness, 56% actionability, 50% sensitive to change and 56% user-friendly, 19% compatible, 38% feasibility.

Discussion and conclusions
There are few instruments with strong psychometric evidence, and without high-quality instruments, it would be difficult to determine the factors that affect implementation. Therefore, special attention is needed for the systematic development of instruments and their reporting standards.
Study of burst-mode adaptive equalization for >25G PON applications [Invited]
Authors: Coudyzer Gertjan , Ossieur Peter , Breyne Laurens , La Porta Antonio , Paredes Stephan , Bauwelinck Johan , Yin Xin 
Published: December 2019

In anticipation of emerging applications such as business services, 5G, and the Internet of Things, research and standardization are working together towards next-generation 25/50 Gbit/s passive optical network access networks. However, the increase in single-channel line rate is limited by the distortion introduced by the low-cost device’s bandwidth limit or the chromatic dispersion in the fiber. Burst-mode electronic distortion/dispersion compensation can be used to mitigate these effects, but requires a burst-mode equalizer (BMEQ) for upstream traffic and introduces many challenges. In this invited paper, the feasibility of single-channel, directly modulated upstream 25 Gbit/s non-return-to-zero transmission is investigated in more detail. By using a linear burst-mode transimpedance amplifier together with an offline BMEQ, specific BMEQ penalties and trade-offs such as limited training time and burst-to-burst phase variation are considered.
PON transceiver technologies for ≥50  Gbits/s per λ: Alamouti coding and heterodyne detection [Invited]
Authors: Erkılınç M. S. , Emmerich R. , Habel K. , Jungnickel V. , Schmidt-Langhorst C. , Schubert C. , Freund R. 
Published: December 2019

There has been an ongoing quest for transceiver technologies to be employed in next-generation passive optical networks (PONs) beyond 25G due to the growing number of subscribers and connected devices per subscriber and the ever-increasing bandwidth demand per device/application. Given the cost and loss/power budget requirements, the candidates seem to be digital signal processing (DSP)-aided intensity-modulation/direct detection (IM-DD) and low-complexity coherent transceivers. Here, we experimentally demonstrate a 100G coherent-lite PON using a novel transceiver DSP chain that utilizes a frequency-diverse dual-polarization RF pilot tone pair. The proposed scheme enables the implementation of Alamouti coding for single-carrier signaling, which is used in conjunction with heterodyne detection, achieving a significant complexity reduction in a coherent optical network unit (ONU) receiver. It consists of a single balanced photodiode followed by an analog-to-digital converter, offering comparable optical complexity to its DD counterpart, at the expense of DSP complexity in the ONU. The performance of a transceiver architecture facilitated by the proposed DSP was assessed in both back-to-back operation and up to 80 km standard single-mode fiber transmission using an

∼
1

MHz

linewidth distributed feedback laser as an ONU laser. At the hard-decision forward error correction (7% overhead) threshold, assumed to be

4
×

10

−
3

, a receiver sensitivity of

−

29.6

dBm

and a loss budget of 36.6 dB at a launch power of 7 dBm are achieved.