Search results for "Genetics"

OFD1mutations in males: phenotypic spectrum and ciliary basal body docking impairment

2012

Influence of rigid taping on the acromiohumeral distance in healthy recreational weightlifters

2021

BackgroundSubacromial pain syndrome is one of the most frequent injuries in overhead athletes, and it takes place when the acromiohumeral distance (AHD) is narrowed. Conservative treatment is the first approach to this syndrome, being shoulder taping one of the most used techniques. Although there are quite a few studies that analyse the effect of taping on the AHD, most of them do not include sham tapings. This study aimed to examine if the Relocation of the humeral head (RHH) taping produced an increase in the AHD in healthy recreationally weightlifter males, quantifying the change that may be due to a placebo effect.MethodsThe design of this study was a two-group pretest-posttest, in whi…

Effect of Computer-Aided Navigation Techniques on the Accuracy of Endodontic Access Cavities: A Systematic Review and Meta-Analysis

2021

Simple Summary The endodontic access cavity is an essential step in the root canal treatment allowing the access and location of the root canal system. The inaccuracy during the endodontic access cavitie can lead to intraoperative complications such as missed root canals or root perforations, and hence affect the prognosis of the root canal treatment. The development of computer-aided static and dynamic navigation techniques has improved the accuracy of endodontic access cavities and root canal location; however, it is necessary a comparative analysis to clarify which of the computer-aided navigation system is more accurate. This systematic review and meta-analysis aims to clarify the root …

G.P.232

2014

Spinal muscular atrophy (SMA) and Pompe disease (PD) are common neuromuscular disorders during childhood causing progressive weakness of proximal muscles with gait disturbances, loss of ambulation and breathing difficulties. Whereas SMA is the result of a neurogenic atrophy caused by mutations in the SMN1 gene, PD is a lysosomal glycogen storage disease (type II) due to mutations of the GAA gene responsible for the enzyme activity of acid alpha-1,4-glucosidase. PD is treatable by enzyme replacement therapy, but in SMA there is no established curable therapy. We report on a child with genetically proven SMA type III and PD caused by mutations in the SMN1 and GAA genes. A 3 years old girl pre…

Meta-Analysis of the Use of 8-OHdG in Saliva as a Marker of Periodontal Disease.

2018

The objective was to collect the available evidence on oxidative stress marker measurements in periodontal patients, focusing specifically on 8-hydroxy-2′-deoxyguanosine (8-OHdG) as a salivary marker of periodontal disease, and to perform meta-analyses to calculate differences in concentration compared to healthy persons. A systematic search in PubMed, Cochrane Library, Embase, and Scopus identified 81 articles. Of these, 38 were duplicates. After reading the abstracts of the remaining 43, 42 were selected for full-text assessment. Finally, 17 articles were included in the qualitative synthesis. Those excluded were of low quality, did not answer the research question, or did not meet the in…

Current Strategies for Tracheal Replacement: A Review

2021

Airway cancers have been increasing in recent years. Tracheal resection is commonly performed during surgery and is burdened from post-operative complications severely affecting quality of life. Tracheal resection is usually carried out in primary tracheal tumors or other neoplasms of the neck region. Regenerative medicine for tracheal replacement using bio-prosthesis is under current research. In recent years, attempts were made to replace and transplant human cadaver trachea. An effective vascular supply is fundamental for a successful tracheal transplantation. The use of biological scaffolds derived from decellularized tissues has the advantage of a three-dimensional structure based on t…

Relationship between Skin Temperature Variation and Muscle Damage Markers after a Marathon Performed in a Hot Environmental Condition

2021

This study aimed to assess the effect of a marathon running at a hot environmental temperature on the baseline skin temperature (Tsk) of the posterior day and to analyze the relationship between Tsk response and muscle damage markers variation. The Tsk, creatine kinase, and lactate dehydrogenase of 16 marathon runners were assessed four times before (15 days and 45 min) and after (24 h and 6 days) a marathon in a hot environment (thermal stress index = 28.3 ± 3.3 °C and humidity ~81%). The Tsk of thirteen different body regions of both right and left lower limbs were analyzed. Higher values after the marathon were observed than 45 min before in creatine kinase (174.3 ± 136.4 UI/L &lt

Primary Extracranial Meningiomas of the Head and Neck

2021

Meningiomas represent the most common benign histological tumor of the central nervous system. Usually, meningiomas are intracranial, showing a typical dural tail sign on brain MRI with Gadolinium, but occasionally they can infiltrate the skull or be sited extracranially. We present a systematic review of the literature on extracranial meningiomas of the head and neck, along with an emblematic case of primary extracranial meningioma (PEM), which provides further insights into PEM management. A literature search according to the PRISMA statement was conducted from 1979 to June 2021 using PubMed, Web of Science, Google Scholar, and Scopus databases, searching for relevant Mesh terms (primary …

Incidence and factors associated with burnout in anesthesiology: A systematic review

2017

Background. Burnout syndrome has reached epidemic levels among physicians (reported around 50%). Anesthesiology is among the most stressful medical disciplines but there is paucity of literature as compared with others. Analysis of burnout is essential because it is associated with safety and quality of care. We summarize evidence on burnout in anesthesiology. Methods. We conducted a systematic review (MEDLINE up to 30.06.2017). We included studies reporting burnout in anesthesiology with no restriction on role or screening test used. Results. Fifteen surveys/studies described burnout in anesthesiology, including different workers profiles (nurses, residents, consultants, and directors). Al…

Plasmid diversity in Vibrio vulnificus biotypes.

2009

Vibrio vulnificus is a heterogeneous bacterial species that can be virulent for humans and fish. Virulence in fish seems to rely on a recently described plasmid that can be transmitted between strains, aided by a conjugative plasmid. The main objective of this work was to analyse the plasmid content of a wide collection of strains from the three biotypes of the species, as well as to identify putative conjugative and virulence plasmids by means of Southern hybridization with specific probes and sequence analysis of selected gene markers. We found 28 different plasmid profiles in a total of 112 strains, which were relatively biotype- or serovar-specific. Biotype 1 lacked high-molecular-mass…