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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We describe the most highly recommended generic and disease-specific PRO tools in SCD and discuss the challenges of incorporating them in clinical practice. EXPERT OPINION: PRO measures are essential to incorporate into SCD clinical trials either as primary or secondary outcomes. The use of PRO measures in SCD facilitates a patient-centered approach, which is likely to lead to improved outcomes. Significant challenges remain in adapting PRO tools to routine clinical use and in developing countries. PMID: 33034214 [PubMed - as supplied by publisher]
Source: Expert Review of Hematology - Category: Hematology Tags: Expert Rev Hematol Source Type: research
Authors: Bergland OU, Søraas CL, Larstorp ACK, Halvorsen LV, Hjørnholm U, Hoffman P, Høieggen A, Fadl Elmula FEM Abstract PURPOSE: The blood pressure (BP) lowering effect of renal sympathetic denervation (RDN) in treatment-resistant hypertension shows variation amongst the existing randomised studies. The long-term efficacy and safety of RDN require further investigation. For the first time, we report BP changes and safety up to 7 years after RDN, compared to drug adjustment in the randomised Oslo RDN study. MATERIALS AND METHODS: Patients with treatment-resistant hypertension, defined...
Source: Blood Pressure - Category: Hematology Tags: Blood Press Source Type: research
Authors: Zhang W, Xu JZ, Lu XH, Li H, Wang D, Wang JG Abstract PURPOSE: We hypothesise that dietary sodium intake interacts with serum uric acid to influence blood pressure (BP) in children and adolescents. In the present study, we investigated ambulatory BP in relation to hyperuricaemia, dietary sodium intake and their interaction in children and adolescents with hypertension. MATERIALS AND METHODS:  A total of 616 study participants were 10-24 years old and had primary hypertension diagnosed after admission in a specialised inpatient ward. Ambulatory BP monitoring was performed during hospitalisat...
Source: Blood Pressure - Category: Hematology Tags: Blood Press Source Type: research
Source: European Journal of Sport Science - Category: Sports Medicine Authors: Source Type: research
Currently in fellowship doing bread/butter procedures (MBB, epidurals, PNB, few SCS/PNS trials, etc.) and just interviewed at a private practice spot where they do a lot of procedures that I will have not done any training in prior to graduating (e.g. IT pump, SI fusion, Vertiflex, Kypho, MILD, Discectomy, lots of SCS/PNS trials etc) and significant amount of "OR pain procedures" at a very busy practice seeing 30-40 pts/day - how many of you are commonly performing these procedures and are... private practice concern
Source: Student Doctor Network - Category: Universities & Medical Training Authors: Tags: Pain Medicine Source Type: forums
Acceptance of trauma can also help to reduce its damaging effects. → Support PsyBlog for just $5 per month. Enables access to articles marked (M) and removes ads. → Explore PsyBlog's ebooks, all written by Dr Jeremy Dean: Accept Yourself: How to feel a profound sense of warmth and self-compassion The Anxiety Plan: 42 Strategies For Worry, Phobias, OCD and Panic Spark: 17 Steps That Will Boost Your Motivation For Anything Activate: How To Find Joy Again By Changing What You Do
Source: PsyBlog | Psychology Blog - Category: Psychiatry & Psychology Authors: Tags: Sleep subscribers-only Source Type: blogs
The behavior is linked to more white matter, the brain's 'superhighway'. → Support PsyBlog for just $5 per month. Enables access to articles marked (M) and removes ads. → Explore PsyBlog's ebooks, all written by Dr Jeremy Dean: Accept Yourself: How to feel a profound sense of warmth and self-compassion The Anxiety Plan: 42 Strategies For Worry, Phobias, OCD and Panic Spark: 17 Steps That Will Boost Your Motivation For Anything Activate: How To Find Joy Again By Changing What You Do
Source: PsyBlog | Psychology Blog - Category: Psychiatry & Psychology Authors: Tags: Intelligence Source Type: blogs
Publication date: October 2020Source: Brain, Behavior, and Immunity, Volume 89Author(s): Mario Gennaro Mazza, Rebecca De Lorenzo, Caterina Conte, Sara Poletti, Benedetta Vai, Irene Bollettini, Elisa Maria Teresa Melloni, Roberto Furlan, Fabio Ciceri, Patrizia Rovere-Querini, COVID-19 BioB Outpatient Clinic Study group, Francesco Benedetti
Source: Brain, Behavior, and Immunity - Category: Neurology Source Type: research
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Source: Brain, Behavior, and Immunity - Category: Neurology Source Type: research
Publication date: October 2020Source: Brain, Behavior, and Immunity, Volume 89Author(s): Fernando Lopes, Fernando A. Vicentini, Nina L. Cluny, Alexander J. Mathews, Benjamin H. Lee, Wagdi A. Almishri, Lateece Griffin, William Gonçalves, Vanessa Pinho, Derek M. McKay, Simon A. Hirota, Mark G. Swain, Quentin J. Pittman, Keith A. Sharkey
Source: Brain, Behavior, and Immunity - Category: Neurology Source Type: research
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