Fragile X in the Family

Discussion Fragile X syndrome (FXS) was first clinically described in 1943 by Martin-Bell and in 1969 Lubs found a fragility at the terminal end of the X chromosome. In 1991, three different research groups independently cloned the mutation for the FMR1 gene (Fragile X mental retardation type 1) which has a CGG triplet expansion. The FMR1 gene codes for the FMR protein which is a major regulator of synaptic plasticity and is expressed in the brain and spermatogonia mainly but many other tissues during fetal and early neonatal development. The number of triplets and methylation correlates with clinical expression (increased numbers have increased clinical expression). It is an X-linked dominant gene with reduced penetrance. Overall it has an incidence of 1:4000 for males and 1:7000 in females. Learning Point FXS occurs from inactivation of the FMR1 gene. FXS is the most common cause of inherited intellectual disability. It is also a leading form of autism spectrum disorders. Patients may also have seizures, abnormal head movements, hyperactive behavior, and poor eye contact. FXS is suspected in patients with developmental delays and is diagnosed by polymerase chain reaction which can determine the number of CGG repeats as well as other genetic information that is important for genetic counseling. The number of repeats tends to increase in subsequent generations especially with repeats in the permutation zone. People with 6-44 repeats are considered normal. People with 45-54...
Source: PediatricEducation.org - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news

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Conclusions Analysis of ASC and HOR claims demonstrates significant differences and several common sources of liability. These include improving strategies for thorough screening, preoperative assessment and risk stratifying of patients, incorporating routine dental and airway assessment and documentation, diagnosing and treating perioperative pain adequately, and improving the efficacy of communication between patients and care providers.
Source: Journal of Patient Safety - Category: Health Management Tags: The Health Care Manager Source Type: research
I’ve been interviewing for jobs recently and am realizing how much of private practice pain is just a money making scheme. Comments like “schedule the procedure and medication refills on the same day so they come to get their procedure,” and “3-4 shots a year and a couple urines is not bad revenue” are so common. Tack on sketchy urine labs, churning out patients with scribes, getting paid $$$ by industry and the situation seems even more bleak. my question is - is this unique to pain? On... Read more
Source: Student Doctor Network - Category: Universities & Medical Training Authors: Tags: Pain Medicine Source Type: forums
Hello all, I I'm finishing my fellowship and was recommended for a job at a clinic. I had a phone interview with them today which went very well. They asked me to come see the facility in person at the end of the interview and had mentioned that they would like me to sign an NDA before seeing the clinic at the end of the interview. I'm very new to this and I'm not sure if this is the norm. My question is, I'm not sure what can be confidential/proprietary in a clinic setting and if I sign... Read more
Source: Student Doctor Network - Category: Universities & Medical Training Authors: Tags: Pain Medicine Source Type: forums
Conclusions Adults with cerebral palsy or spina bifida have a significantly higher prevalence of common psychological, cardiometabolic, and musculoskeletal morbidity and multimorbidity, as compared with adults without cerebral palsy or spina bifida. Efforts are needed to facilitate the development of improved clinical screening algorithms and early interventions to reduce risk of disease onset/progression in these higher risk populations. To Claim CME Credits Complete the self-assessment activity and evaluation online at http://www.physiatry.org/JournalCME CME Objectives Upon completion of this article, t...
Source: American Journal of Physical Medicine and Rehabilitation - Category: Rehabilitation Tags: CME Article . 2021 Series . Number 10 Source Type: research
Objective The aim of the study was to assess centrally induced pain processing with pressure pain thresholds bilaterally and remotely in active volleyball and basketball athletes with mild patellar tendinopathy compared with asymptomatic control athletes. Secondary objective was to explore the role of exercise-induced analgesia during a training session in athletes with patellar tendinopathy. Design In this exploratory study, pressure pain thresholds of 21 patellar tendinopathy athletes and 16 age- and sex-matched asymptomatic team members were measured by a blinded assessor bilaterally on the patellar tendon an...
Source: American Journal of Physical Medicine and Rehabilitation - Category: Rehabilitation Tags: Original Research Articles Source Type: research
Conclusions In this exploratory study, motor unit number index did not demonstrate discriminatory ability between patients with lumbar spinal stenosis and was not correlated with pain and functional measures. Further study is needed to explore motor unit number index’s role in longitudinal evaluation of patients with the clinical syndrome of lumbar spinal stenosis.
Source: American Journal of Physical Medicine and Rehabilitation - Category: Rehabilitation Tags: Original Research Articles Source Type: research
Objective The aim of this study was to evaluate a nonsedating agent, lavender aromatherapy, to reduce anxiety before interventional spinal procedures. Design In this prospective, single-blind study performed at a tertiary care center for an academic institution, 144 patients undergoing spinal procedures (epidural steroid injection, medial branch block, or radiofrequency ablation) were randomized into two groups of 72 patients. The experimental group was exposed to a tablet formulation of lavender aromatherapy, while the control group was exposed to tablets devoid of any scent. The exposure duration for each grou...
Source: American Journal of Physical Medicine and Rehabilitation - Category: Rehabilitation Tags: Original Research Articles Source Type: research
This study systematically reviewed the published literature on the objective characterization of myofascial pain syndrome and myofascial trigger points using imaging methods. PubMed, Embase, Ovid, and the Cochrane Library databases were used, whereas citation searching was conducted in Scopus. Citations were restricted to those published in English and in peer-reviewed journals between 2000 and 2021. Of 1762 abstracts screened, 69 articles underwent full-text review, and 33 were included. Imaging data assessing myofascial trigger points or myofascial pain syndrome were extracted, and important qualitative and quantitative ...
Source: American Journal of Physical Medicine and Rehabilitation - Category: Rehabilitation Tags: Literature Review Source Type: research
A 64-yr-old man with a history of previous motor vehicle collision with chronic back pain presented as a referral to an outpatient spine clinic with a 3-yr history of bilateral lower limb weakness and numbness that progressed to severe bilateral foot drop. He had been seen by another practitioner from a different hospital 2 yrs prior who performed an electromyography that was interpreted as possible primary lateral sclerosis. His clinical picture was difficult to interpret as it did not fit any of the disease patterns, such as a motor neuron disease, suggested by previous electromyography. Repeated magnetic resonance imagi...
Source: American Journal of Physical Medicine and Rehabilitation - Category: Rehabilitation Tags: Case Report Source Type: research
THE MENOPAUSE transition is defined as the time leading up to a woman's final period. It is usually characterised by an onslaught of bothersome symptoms, including insomnia. Researchers studying the effects of diet on menopause believe some foods may exacerbate sleeplessness.
Source: Daily Express - Health - Category: Consumer Health News Source Type: news
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