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Showing "XFRA DELETION INSTRUMENTS FROM XETRA 2020" PubMed Articles 1–25 of 2,400+

Is a Linear or a Walkabout Protocol More Efficient When Using a Rover to Choose Biologically Relevant Samples in a Small Region of Interest?

We conducted a field test at a potential Mars analog site to provide insight into planning for future robotic missions such as Mars 2020, where science operations must facilitate efficient choice of biologically relevant sampling locations. We compared two data acquisition and decision-making protocols currently used by Mars Science Laboratory: (1) a linear approach, where sites are examined as they are encountered and (2) a walkabout approach, in which the field site is first examined with remote rover ins...

Patterns of Dysphagia and Airway Protection in Infants with 22q11.2-Deletion Syndrome.

22q11.2-deletion syndrome is a genetic condition that affects 1:3000 births. In addition to cardiac anomalies and immunosuppression, individuals with 22q11.2-deletion syndrome can have feeding difficulties from birth resulting in failure to thrive and infections. This study aims to characterize the dysphagia seen in infants with 22q11.2-deletion syndrome.

Mobile Phone Administration of Hip-Specific Patient-Reported Outcome Instruments Correlates Highly With In-office Administration.

Patient-reported outcome (PRO) instruments typically are delivered via paper or computer; we validated administration of hip-specific instruments over a mobile phone software communication platform outside a clinical encounter.

The Morcellation "Debate" and the FDA 510(k) Process-A Call for Further Reform.

Few gynecologic surgeons understand the mechanism by which surgical instruments are approved for human use and marketing or do they appreciate the central role they play in postmarket surveillance and reporting after instruments have come to market.

Expanding the Degradable Proteome: Designing PROTACs by the Book.

In this issue of Cell Chemical Biology, Li et al. (2020), Hsu et al. (2020), and Potjewyd et al. (2020) expand the target spectrum amenable to protein degradation by designing degraders of the cell cycle checkpoint kinase Wee1 and the polycomb repressive complex 2 (PRC2) via its regulatory EED subunit.

Instruments for the Assessment of Behavioral and Psychosocial Functioning in Duchenne and Becker Muscular Dystrophy; a Systematic Review of the Literature.

This systematic review aims to provide an overview of instruments used to assess behavioral and psychosocial functioning of patients with Duchenne and Becker muscular dystrophy, as well as to review the psychometric properties and applicability of these instruments.

Effect of cleaning guidelines implementation on microbial colony count of laparoscopic instruments: A study in a public hospital in Iran.

Some countries have implemented reuse of laparoscopic instruments for cost-effective purposes. An accurate cleaning as the first step of reprocessing would lead to the effective sterilization. The purpose was to evaluate the effect of cleaning guidelines implementation on microbial load of laparoscopic instruments which were used in laparoscopic cholecystectomy surgery.

Resistance to cyclic fatigue of reciprocating instruments determined at body temperature and phase transformation analysis.

The purpose of this study was to compare cyclic fatigue (CF) resistance of reciprocating instruments at body temperature and relate the findings to their martensitic transformation temperatures. Contemporary nickel-titanium (NiTi) reciprocating instruments WaveOne Primary, WaveOne Gold Primary and EdgeFile X1 (n = 20 each and #25 tip diameter) were tested for CF resistance at body temperature (37 ± 1°C). Instruments were actioned according to manufacturer guidelines until fracture occurred in a simula...

Unusual Form of Obstructive Hydrocephalus in Association with 6q Terminal Deletion Syndrome: A Case Report and Literature Review.

Terminal deletion of chromosome 6q is a rare chromosomal abnormality associated with intellectual disabilities and various structural brain abnormalities. We present a case of 6q terminal deletion syndrome with unusual magnetic resonance imaging (MRI) findings in a neonate.

Measuring anger in patients experiencing chronic pain - A systematic review.

Anger is prevalent in chronic pain and has been associated with pain perception, disability, behavior and treatment outcome. Objectives were (1) to survey in the context of chronic pain the application (and omission) of validated anger self-report instruments, (2) to discuss the instruments found in the context of emotion theories and (3) to identify a possible instrument preference. A systematic search of textbooks and review articles was first performed on validated instruments designed to measure the cog...

Application of the instrumental inequalities to a Mendelian randomization study with multiple proposed instruments.

Investigators often support the validity of Mendelian randomization (MR) studies, an instrumental variable approach proposing genetic variants as instruments, via subject matter knowledge. However, the instrumental variable model implies certain inequalities, offering an empirical method of falsifying (but not verifying) the underlying assumptions. While these inequalities are said to detect only extreme assumption violations in practice, to our knowledge they have not been used in settings with multiple pr...

Application of the instrumental inequalities to a Mendelian randomization study with multiple proposed instruments.

Investigators often support the validity of Mendelian randomization (MR) studies, an instrumental variable approach proposing genetic variants as instruments, via subject matter knowledge. However, the instrumental variable model implies certain inequalities, offering an empirical method of falsifying (but not verifying) the underlying assumptions. While these inequalities are said to detect only extreme assumption violations in practice, to our knowledge they have not been used in settings with multiple pr...

Consanguineous Chinese Familial Study Reveals that a Gross Deletion that Includes the SYCE1 Gene Region Is Associated with Premature Ovarian Insufficiency.

Premature ovarian insufficiency (POI) is a highly heterogeneous ovarian disorder. Genetic factors account for the cause of POI. We aimed to analyze the genetic alterations in two affected sisters diagnosed with POI and their parents from a highly consanguineous Chinese Han family. Whole-exome sequencing was performed, and bioinformatics analysis was used to determine the potential genetic cause of POI in this family. A SYCE1 deletion was verified by Sanger sequencing. A homozygous deletion in SYCE1 was harb...

Clinical delineation of 18q11-q12 microdeletion: Intellectual disability, speech and behavioral disorders, and conotruncal heart defects.

Since the establishment of chromosomal microarrays in clinical practice, many new microdeletion/microduplication syndromes have been identified, including 18q11.2 microdeletion. Chromosome 18q deletion syndrome is commonly classified into distal deletion and a much rarer proximal interstitial deletion spanning the 18q11.2-q21.1 region.

13th Annual Congress of European Association for Haemophilia and Allied Disorders 2020, 5-7 February 2020, The Hague, The Netherlands.

Comparative Content Analysis of Self-Report Scales for Level of Personality Functioning.

Content validity analyses of eight self-report instruments for assessing severity of personality disorder (PD), also known as Level of Personality Functioning (LPF), were conducted using the conceptual scheme of the Alternative Model for Personality Disorders (AMPD; APA, 2013). The item contents of these eight inventories were characterized for the LPF constructs of Identity (ID), Self-Direction (SD), Empathy (EM), and Intimacy (IN) along with the pathological personality trait domains of Negative Affectivi...

Comment on "Circular RNAs and their Emerging Roles as Diagnostic and Prognostic Biomarkers in Ovarian Cancer," Cancer Lett. 2020 Jan 2; 473 (2020) 139-147.

A novel 8.7-kb mitochondrial genome deletion accurately detects endometriosis in the plasma of symptomatic women.

To evaluate an 8.7-kb mitochondrial DNA (mtDNA) deletion as a potential biomarker of endometriosis. We tested the diagnostic accuracy of the 8.7-kb deletion real-time PCR assay using 182 prospectively collected blood samples from females presenting with symptoms of endometriosis in a case-control format. The assay differentiated between endometriosis and controls (area under curve: 0.74-0.89) with a statistically significant difference (p 

Assessment of Upper Limb Physiological Features in Patients with Lymphedema After Breast Surgery Using Multiple Instruments.

Objective assessment of upper limb physiological features may allow for early detection and proper intervention for lymphedema after breast surgery. However, the development of diagnostic instruments and standard measurement procedures are required. Four instruments (Venustron, Softmeasure, Myoton Pro, and iBDent), tape measurement, and water volumetry were investigated in this study. Inter-limb differences in physiological data were obtained from 40 patients with lymphedema after breast surgery and 38 con...

2019-nCoV acute respiratory disease, Australia: Epidemiology Report 1 (Reporting week 26 January - 1 February 2020).

This is the first epidemiological report of novel coronavirus (2019-nCoV) acute respiratory disease infections reported in Australia at 19:00 Australian Eastern Daylight Time [AEDT] 1 February 2020. It includes data on Australian cases notified during the week 26 January to 1 February 2020 and in the previous week (19 to 25 January 2020), the international situation and current information on the severity, transmission and spread of the 2019-nCoV infection.

A New Case with Corpus Callosum Abnormalities, Microcephaly and Seizures Associated with a 2.3-Mb 1q43-q44 Deletion.

1q44 deletion is a rare syndrome associated with facial dysmorphism and developmental delay, in particular related with expressive speech, seizures, and hypotonia (ORPHA:238769). Until today, the distinct genetic causes for the different symptoms remain not entirely clear. We present a patient with a 2.3-Mb 1q44 deletion, including AKT3, ZBTB18, and HNRNPU, who shows microcephaly, developmental delay, abnormal corpus callosum, and seizures. The genetic findings in this case and a review of the literature sp...

Evaluation of measurement properties of health-related quality of life instruments for burns: a systematic review.

Health-related quality of life (HRQL) is a key outcome in the evaluation of burn treatment. HRQL instruments with robust measurement properties are required to provide high quality evidence to improve patient care. The aim of this review was to critically appraise the measurement properties of HRQL instruments used in burns.

No Zones Left Behind: Democratic Hepatocytes Contribute to Liver Homeostasis and Repair.

Despite minimal turnover, liver cells possess immense regenerative capacity. Some studies suggest existence of a hepatocyte subset with such unique capabilities. However, in the current issue of Cell Stem Cell, three independent studies (Chen et al., 2020; Matsumoto et al., 2020, and Sun et al., 2020) demonstrate an equitable homeostatic and reparative potential of all hepatocytes, irrespective of their lobular location or ploidy status.

Novel Use of Three-Dimensional Ultrasonography to Locate a Retained Needle in the Vaginal Wall.

The occurrence of retained surgical instruments in vaginal surgery, although low, carries unique complications. Appropriate imaging to find retained surgical instruments allows for timely diagnosis and retrieval of the vaginal foreign body.

Relationship between Playing of Wind Musical Instruments and Symptoms of Temporomandibular Joint Disorders in a Male Nigerian Adult Population.

Concern over the impact of playing wind instruments on the stomatognathic system has increased in the last few decades with many health practitioners attending to an increasing number of musical instrument players.

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