Copy number variants in patients with short stature

Height is a highly heritable and classic polygenic trait. Recent genome-wide association studies (GWAS) have revealed that at least 180 genetic variants influence adult height. However, these variants explain only about 10% of the phenotypic variation in height. Genetic analysis of short individuals can lead to the discovery of novel rare gene defects with a large effect on growth. In an effort to identify novel genes associated with short stature, genome-wide analysis for copy number variants (CNVs), using single-nucleotide polymorphism arrays, in 162 patients (149 families) with short stature was performed. Segregation analysis was performed if possible, and genes in CNVs were compared with information from GWAS, gene expression in rodents'' growth plates and published information. CNVs were detected in 40 families. In six families, a known cause of short stature was found (SHOX deletion or duplication, IGF1R deletion), in two combined with a de novo potentially pathogenic CNV. Thirty-three families had one or more potentially pathogenic CNVs (n=40). In 24 of these families, segregation analysis could be performed, identifying three de novo CNVs and nine CNVs segregating with short stature. Four were located near loci associated with height in GWAS (ADAMTS17, TULP4, PRKG2/BMP3 and PAPPA). Besides six CNVs known to be causative for short stature, 40 CNVs with possible pathogenicity were identified. Segregation studies and bioinformatics analysis suggested various potential candidate genes.     

The importance of physics to progress in medical treatment

Physics in therapy is as diverse as it is substantial. In this review, we highlight the role of physics--occasionally transitioning into engineering--through discussion of several established and emerging treatments. We specifically address minimal access surgery, ultrasound, photonics, and interventional MRI, identifying areas in which complementarity is being exploited. We also discuss some of the fundamental physical principles involved in the application of each treatment to medical practice.     

Association between inflammatory-related disease burden and frailty: Results from the Women's Health and Aging Studies (WHAS) I and II

Frailty is associated with a pro-inflammatory state, which has been characterized by elevated levels of systemic inflammatory biomarkers, but has not been related to the number of co-existing chronic diseases associated with inflammation. We sought to determine the extent to which a higher number of inflammatory-related diseases is associated with frailty and to identify the most common disease patterns associated with being frail in older adults. We performed binomial regression analyses to assess whether a higher count of inflammatory-related diseases increases the probability of frailty using data from the WHAS I and II, companion cohorts composed of 70-79-year-old community-dwelling older women in Baltimore, Maryland (n = 620). An increase of one inflammatory-related disease was associated log-linearly with frailty (Prevalence Ratio (PR) = 2.28, 95% Confidence Interval (CI) = 1.81-2.87). After adjusting for age, race, education, and smoking status, the probability of frailty remained significant (PR = 1.97, 95%CI = 1.52-2.55). In the frail population, chronic kidney disease (CKD) and depressive symptoms (Prevalence = 22.9%, 95%CI = 14.2-34.8%); CVD and depressive symptoms (21.7%, 95%CI = 13.2-33.5%); CKD and anemia (18.7%, 95%CI = 11.1-29.7%); cardiovascular disease (CVD), CKD, and pulmonary disease (10.7%, 95%CI = 5.2-21.0%); CKD, anemia, and depressive symptoms (8.7%, 95%CI = 3.9-18.2%); and CVD, anemia, pulmonary disease, and depressive symptoms (5.0%, 95%CI = 1.6-14.4%) were among the most frequent disease combinations. Their prevalence percentages were significantly higher in the frail versus non-frail women. A higher inflammatory-related disease count, perhaps reflecting a greater pro-inflammatory burden, increases the likelihood of frailty. Shared mechanisms among specific disease combinations may further contribute to this risk.     

ATLS adherence in the transfer of rural trauma patients to a level I facility

Background

Injury sustained in rural areas has been shown to carry higher mortality rates than trauma in urban settings. This disparity is partially attributed to increased distance from definitive care and underscores the importance of proper primary trauma management prior to transfer to a trauma facility. The purpose of this study was to assess Advanced Trauma Life Support (ATLS) guideline adherence in the management of adult trauma patients transferred from rural hospitals to a level I facility.

Methods

We performed a retrospective analysis of all adult major trauma patients transferred ≥50 km from an outlying hospital to a level I trauma centre from 2007 through 2009. Transfer practices were evaluated using ATLS guidelines.

Results

646 patients were analyzed. Mean age was 40.5 years and 94% sustained blunt injuries with a median Injury Severity Score (ISS) of 22. Median transport distance was 253 km. Among all patients, there were notable deficiencies (<80% adherence) in 8 of 11 ATLS recommended interventions, including patient rewarming (8% adherence), chest tube insertion (53%), adequate IV access (53%), and motor/sensory exam (72%). Patients with higher ISS scores, and those transferred by air were more likely to receive ATLS recommended interventions.

Conclusions

Key aspects of ATLS resuscitation guidelines are frequently missed during transfer of trauma patients from the periphery to level I trauma centres. Comprehensive quality improvement initiatives, including targeted education, telemedicine and trauma team training programmes could improve quality of care.     

The Canadian Society for Aesthetic Plastic Surgery 40th Annual Meeting: September 20 & 21, 2013, Vancouver,British Columbia

After studying the anatomy of 10 fresh cadavers, we developed a technique for the treatment of the cervical area during face lifts. We called this technique PLATYSMA-SUSPENSION and PLATYSMA-PEXY rather than plication. This technique consists of suspending the free edge of the platysma muscle and fixing it to a resistant tissue close to the earlobe (Loré’s fascia or temporo-parotid fascia). The anterior triangle of the neck was well defined and there was no need to undermine the platysma muscle because of a perfect sliding plane between the platysma and sternocleidomastoid muscles. This technique is both simple and effective. It generates long-lasting results, without the inconveniences or complications associated with other techniques.

MATERIALS AND METHODS:

Ten fresh cadavers (ie, 20 hemifaces) were subjected to the proposed technique. They were photographed and filmed at all stages.Ten more cadavers were dissected to study the submental area and we discovered that the best way to recreate the cervico mental angle and to rebuild the floor of the mouth is to use a digastric corset so that we could rebuild the retaining ligaments between the platysma/digastric and mylohyoïd muscles.More than 100 patients were operated by the senior author; they underwent platysma-suspension and platysma-pexy of the fascia described by Loré; associated in difficult necks (Knize 3 and 4 necks) with the digastric corset. The patients were followed-up for a minimum of 12 months.

CONCLUSION:

PLATYSMA-SUSPENSION and PLATYSMA-PEXY in the fascia described by Loré is an extremely long-lasting and effective technique in cervical lifting. It generates impressive results, even in the most inferior portion of the neck. It redefines the entire anterior triangle, especially the sternocleidomastoid muscle and the mandibular contours. Furthermore, PLATYSMA-SUSPENSION minimizes the risk of nerve injury and hematoma by preventing deep and unnecessary dissections because the superficial cervical fascia has a perfect sliding plane between the platysma and the deepest structures of the neck.In difficult necks, we do associate a digastric corset using a submental incision.Pre-op botulinum toxin injections appears to be of great interest leaving the muscle at rest during the post-operative phase.

• Can J Plast Surg. 2013 Winter; 21(4): 253–255.
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• 2: Facial Palsy: Lengthening Temporalis Myoplasty and Smile Reanimation

Can J Plast Surg. 2013 Winter; 21(4): 253.

2: Facial Palsy: Lengthening Temporalis Myoplasty and Smile Reanimation

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