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Fragile X-Associated Tremor-Ataxia Syndrome

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121. Hyperammonemia-Hyperornithinemia-Homocitrullinemia Syndrome (Overview)

. 1997 Sep. 131(3):440-3. . Media Gallery Important products and enzymes in ornithine metabolism (see text for pathway detail). Enzymes and transporters are highlighted in italics. of 1 Tables Contributor Information and Disclosures Author Richard E Frye, MD, PhD Professor of Child Health, University of Arizona College of Medicine at Phoenix; Chief of Neurodevelopmental Disorders, Director of Autism and Down Syndrome and Fragile X Programs, Barrow Neurological Institute at Phoenix Children's Hospital (...) at presentation and long-term prognosis widely vary among affected individuals. Growth and developmental delays, learning disabilities (especially speech delay), and periodic confusion and ataxia are typical presenting symptoms. In this syndrome, a defect in the transport of ornithine into the mitochondrial matrix significantly inhibits the urea cycle, thereby impeding nitrogen disposal. Early detection and treatment may lead to favorable outcome. Next: Pathophysiology The urea cycle maintains

2014 eMedicine Pediatrics

122. CGG Repeat associated non-AUG translation utilizes a cap-dependent, scanning mechanism of initiation to produce toxic proteins (PubMed)

CGG Repeat associated non-AUG translation utilizes a cap-dependent, scanning mechanism of initiation to produce toxic proteins Repeat-associated non-AUG (RAN) translation produces toxic polypeptides from nucleotide repeat expansions in the absence of an AUG start codon and contributes to neurodegenerative disorders such as ALS and fragile X-associated tremor/ataxia syndrome. How RAN translation occurs is unknown. Here we define the critical sequence and initiation factors that mediate CGG (...) repeat RAN translation in the 5' leader of fragile X mRNA, FMR1. Our results reveal that CGG RAN translation is 30%-40% as efficient as AUG-initiated translation, is m(7)G cap and eIF4E dependent, requires the eIF4A helicase, and is strongly influenced by repeat length. However, it displays a dichotomous requirement for initiation site selection between reading frames, with initiation in the +1 frame, but not the +2 frame, occurring at near-cognate start codons upstream of the repeat. These data

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2016 Molecular cell

123. Associated Clinical Disorders Diagnosed by Medical Specialists in 188 FMR1 Premutation Carriers Found in the Last 25 Years in the Spanish Basque Country: A Retrospective Study (PubMed)

Associated Clinical Disorders Diagnosed by Medical Specialists in 188 FMR1 Premutation Carriers Found in the Last 25 Years in the Spanish Basque Country: A Retrospective Study Fragile X-associated tremor/ataxia syndrome (FXTAS) and fragile X-associated primary ovarian insufficiency (FXPOI) are definitely related to the fragile X mental retardation 1 (FMR1) premutation (PM). Additional medical problems have also been associated with the PM, such as fibromyalgia, endocrine, and psychiatric (...) disorders. To improve our understanding in the field, we reviewed all PM carriers and their reasons for any medical referrals from 104 fragile X families molecularly diagnosed in our laboratory and living in the Spanish Basque Country. After signing the written informed consent, we studied their electronic medical records in order to identify the disorders associated with the PM and their frequencies. We obtained clinical data in 188 PM carriers (147 women and 41 men). In women, the frequency of FXPOI

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2016 Genes

124. Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families. (PubMed)

Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families. Within the past few years, there has been a significant change in identifying and characterizing the FMR1 premutation associated phenotypes. The premutation has been associated with elevated FMR1 mRNA levels and slight to moderate reductions in FMRP levels. Furthermore, it has been established that approximately 20% of female premutation carriers present primary ovarian insufficiency (POI) and that fragile X (...) -associated tremor/ataxia syndrome (FXTAS) occurs in one-third of all male premutation carriers older than 50 years. Besides POI and FXTAS, new disorders have recently been described among individuals (especially females) with the FMR1 premutation. Those pathologies include thyroid disease, hypertension, seizures, peripheral neuropathy, and fibromyalgia. However there are few reports related to FXTAS penetrance among female premutation carriers or regarding these disorders recently associated to the FMR1

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2009 European Journal of Human Genetics

125. Repeat associated non-ATG (RAN) translation: new starts in microsatellite expansion disorders (PubMed)

in a growing number of diseases, including spinocerebellar ataxia type 8 (SCA8), myotonic dystrophy type 1 (DM1), Fragile-X tremor ataxia syndrome (FXTAS), and C9ORF72 amyotrophic lateral sclerosis (ALS)/frontotemporal dementia (FTD). Copyright © 2014 Elsevier Ltd. All rights reserved. (...) Repeat associated non-ATG (RAN) translation: new starts in microsatellite expansion disorders Microsatellite-expansion diseases are a class of neurological and neuromuscular disorders caused by the expansion of short stretches of repetitive DNA (e.g. GGGGCC, CAG, CTG …) within the human genome. Since their discovery 20 years ago, research into how microsatellites expansions cause disease has been examined using the model that these genes are expressed in one direction and that expansion

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2014 Current opinion in genetics & development

126. CGG-repeat expansion in FMR1 is not associated with amyotrophic lateral sclerosis. (PubMed)

known to cause spinocerebellar ataxia type 2, has been identified as a major risk factor for sporadic ALS. Intermediate repeat expansions in the fragile X mental retardation 1 (FMR1) gene (55-200 repeats) are known to cause fragile X-associated premature ovarian insufficiency [(FX)POI; female carriers] or fragile X-associated tremor/ataxia syndrome (FXTAS; male carriers) by CGG-mediated RNA toxicity. The present investigation involves screening FMR1 repeat length in 742 sporadic ALS patients and 792 (...) CGG-repeat expansion in FMR1 is not associated with amyotrophic lateral sclerosis. Recently, repeat expansions in several genes have been shown to cause or be associated with amyotrophic lateral sclerosis (ALS). It has been demonstrated that an intronic hexanucleotide repeat expansion in C9ORF72 is a major cause of both familial (approximately 40%) and sporadic (approximately 5%) ALS, as well as frontotemporal dementia (FTD). In addition, a CAG-repeat expansion in exon 1 of ATXN2, otherwise

2012 Neurobiology of Aging

127. Advances in the Treatment of Fragile X Syndrome. (PubMed)

Advances in the Treatment of Fragile X Syndrome. The FMR1 mutations can cause a variety of disabilities, including cognitive deficits, attention-deficit/hyperactivity disorder, autism, and other socioemotional problems, in individuals with the full mutation form (fragile X syndrome) and distinct difficulties, including primary ovarian insufficiency, neuropathy and the fragile X-associated tremor/ataxia syndrome, in some older premutation carriers. Therefore, multigenerational family involvement (...) is commonly encountered when a proband is identified with a FMR1 mutation. Studies of metabotropic glutamate receptor 5 pathway antagonists in animal models of fragile X syndrome have demonstrated benefits in reducing seizures, improving behavior, and enhancing cognition. Trials of metabotropic glutamate receptor 5 antagonists are beginning with individuals with fragile X syndrome. Targeted treatments, medical and behavioral interventions, genetic counseling, and family supports are reviewed here.

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2009 Pediatrics

128. Cerebral palsy in adults

, consider referring them to a specialised centre with experience in providing deep brain stimulation. See also NICE interventional procedures guidance on deep brain stimulation for tremor and dystonia (excluding Parkinson's diseas). Cerebral palsy in adults (NG119) © NICE 2019. All rights reserved. Subject to Notice of rights (https://www.nice.org.uk/terms-and- conditions#notice-of-rights). Page 19 of 64T o find out why the committee made the recommendations on neurosurgical treatments to reduce (...) to be moved, for example, hoisting history of falls low BMI history of low-impact fractures other medical factors, for example steroid use, that may adversely affect bone health. Cerebral palsy in adults (NG119) © NICE 2019. All rights reserved. Subject to Notice of rights (https://www.nice.org.uk/terms-and- conditions#notice-of-rights). Page 20 of 64For more information about assessment of fracture risk, see NICE's guideline on osteoporosis: assessing the risk of fragility fracture. 1.4.4 Consider a dual

2019 National Institute for Health and Clinical Excellence - Clinical Guidelines

129. Ubiquitin-Positive Intranuclear Inclusions in Neuronal and Glial Cells in a Mouse Model of the Fragile-X Premutation (PubMed)

Ubiquitin-Positive Intranuclear Inclusions in Neuronal and Glial Cells in a Mouse Model of the Fragile-X Premutation Fragile X-associated tremor/ataxia syndrome (FXTAS) is an adult-onset neurodegenerative disorder caused by CGG trinucleotide repeat expansions in the fragile X mental retardation 1 (FMR1) gene. The neuropathological hallmark of the disease is the presence of ubiquitin-positive intranuclear inclusions in neurons and in astrocytes. Ubiquitin-positive intranuclear inclusions have

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2010 Brain research

130. Dolutegravir sodium rilpivirine hydrochloride (Juluca) - HIV Infections

was performed after 56 subjects had been dosed to evaluate the appropriateness of the assumed PK parameter variability and associated sample size. Based on the higher RPV CVw observed (32.9% for C max ), 32 additional subjects were recruited. Results The pharmacokinetic variables of DTG and RPV for both treatments (A: FDC tablet formulation DTG/RPV 50 mg/25 mg; B: DTG 50 mg plus RPV 25 mg) are shown in Table 8 and Table 9 respectively. DTG and RPV systemic exposure in terms of C max , AUC 0-t and AUC 0-8 (...) . The pharmacokinetic results are shown in Table 6 and 7. Table 6. Summary of dolutegravir pharmacokinetic parameters and statistical treatment comparisons following repeat dose administration of dolutegravir with and without rilpivirine 1. Geometric mean [95% CI] (Between subject variability CVb%) 2. GLS Mean Ratio [90% CI] 3. Median (range) Treatments: DTG = DTG 50 mg QD x 5 days DTG + RPV = DTG 50 mg QD + RPV 25 mg QD x 5 days Assessment report EMA/243517/2018 Page 45/109 Table 7. Summary of rilpivirine

2018 European Medicines Agency - EPARs

131. Plitidepsin (Aplidin) - Multiple Myeloma

%. Despite progress in its current treatment and management, MM remains incurable. Although ASCT has extended survival in newly diagnosed MM, practically all patients eventually relapse (3) (6). In addition, approximately two thirds of newly diagnosed patients aged > 65 years are ineligible for this treatment. The treatment option for the majority of the MM population, i.e., the more fragile and elderly patients, is associated with low response rate and short survival. Assessment report EMA/249101/2018 (...) Response Vss Volume of Distribution at Steady State WFI Water for injections XRPD X-ray powder diffraction y.o. Years Old Assessment report EMA/249101/2018 Page 11/156 1. Background information on the procedure 1.1. Submission of the dossier The applicant Pharma Mar, S.A. submitted on 21 September 2016 an application for marketing authorisation to the European Medicines Agency (EMA) for Aplidin, through the centralised procedure falling within the Article 3(1) and point 4 of Annex of Regulation (EC

2018 European Medicines Agency - EPARs

132. Letermovir (Prevymis) - to prevent illness caused by cytomegalovirus (CMV) in adults having an allogeneic haematopoietic stem cell transplant

. The most widely used agents, ganciclovir (GCV) and valganciclovir (VGCV), are associated with myelotoxicity, which is particularly problematic in the HSCT setting. Due to concerns of the toxicities associated with anti-CMV agents, PET is currently the preferred preventive approach in the majority of centres worldwide, especially during the first 100 days post-transplant. However, CMV viremia is associated with an increased risk of overall mortality even after adjustment for PET (Green 2016 (...) ). Considering the challenges for PET as well as the toxicities associated with current anti-CMV agents, there is a role for an effective and well-tolerated antiviral agent for the prevention of CMV reactivation and disease in allogeneic HSCT recipients. About the product Letermovir is a novel anti-CMV agent. Virological characterization and sequence analysis of resistant viruses indicate that the viral terminase complex is the target of this compound. Unlike currently marketed anti-CMV drugs, which act via

2018 European Medicines Agency - EPARs

133. Neuroleptic Malignant Syndrome

Overview of Heat Illness Withdrawal from which of the following substances is most likely to increase a patient’s heat input? Alcohol Cannabis Cocaine Phencyclidine NEWS & VIDEOS Fractures Have Long-Term Impact on Quality of Life for Older Adults TUESDAY, Feb. 12, 2019 (HealthDay News) -- Incident fragility fractures are associated with long-term impacts on health-related quality of life (HRQOL) in older people, according to a study... 3D Model Musculoskeletal Connective Tissues Video How to Do (...) Neuroleptic Malignant Syndrome Neuroleptic Malignant Syndrome - Injuries; Poisoning - MSD Manual Professional Edition Brought to you by The trusted provider of medical information since 1899 SEARCH SEARCH MEDICAL TOPICS Common Health Topics Resources QUIZZES & CASES Quizzes Cases The trusted provider of medical information since 1899 SEARCH SEARCH MEDICAL TOPICS Common Health Topics Resources QUIZZES & CASES Quizzes Cases / / / / IN THIS TOPIC OTHER TOPICS IN THIS CHAPTER Test your knowledge

2013 Merck Manual (19th Edition)

134. Ehlers-Danlos Syndrome

, classic, and hypermobility types. Ehlers-Danlos Syndrome ST MARYS HOSPITAL MEDICAL SCHOOL/SCIENCE PHOTO LIBRARY Bleeding tendency is rare, although the vascular type is characterized by vascular rupture and bruising. Subcutaneous calcified spherules may be palpated or seen on x-rays. Complications of Ehlers-Danlos syndrome Minor trauma may cause wide gaping wounds but little bleeding; surgical wound closure may be difficult because sutures tend to tear out of the fragile tissue. Surgical complications (...) ) Syndromes Cerebral palsy syndromes are categorized based on which parts of the CNS are malformed or damaged. Spastic syndromes occur in > 70% of cases. Which of the following is a typical symptom in spastic cerebral palsy syndromes? Athetoid movements Intention tremor A scissors gait A wide-based gait NEWS & VIDEOS February 2019 Briefing - Psychiatry Here are what the editors at HealthDay consider to be the most important developments in Psychiatry for February 2019. This roundup includes the latest

2013 Merck Manual (19th Edition)

135. Appropriate Use Criteria: Imaging of the Brain

, diagnoses, or imaging modalities not specifically addressed are considered not medically necessary. It is recognized that imaging often detects abnormalities unrelated to the condition being evaluated. Such findings must be considered within the context of the clinical situation when determining whether additional imaging is required. Congenital and Developmental Conditions Ataxia, congenital or hereditary Includes ataxia-telangiectasia, fragile X syndrome, and congenital anomalies of the posterior (...) postures. The diagnosis is clinical and specialist referral is recommended. Features of primary dystonia include the following: absence of associated neurological signs or symptoms other than tremor; absence of additional motor abnormalities (weakness, spasticity, etc.); early onset ( 20, respectively. 119 In a 2 single-center retrospective studies, MRI changed management in 16%-21.6% of patients with central vertigo. 120,121 CT imaging may also be performed, although MRI is more sensitive than CT

2019 AIM Specialty Health

136. Stable Coronary Artery Disease (2nd Edition)

OF PATIENTS WITH STABLE CAD 93 12. PRE-OPERATIVE ASSESSMENT FOR ELECTIVE NON-CARDIAC SURGERY 95 13. MONITORING AND QUALITY ASSURANCE 97 REFERENCES 98 ACKNOWLEDGMENTS 123 DISCLOSURE STATEMENT 123 SOURCES OF FUNDING 123 3-KAT 3-ketoacyl CoA Thiolase ACEi Angiotensin Converting Enzyme Inhibitor ACS Acute Coronary Syndrome AF Atrial Fibrillation AHA/ACC American Heart Association/american College Of Cardiology ARB Angiotensin Receptor Blocker ATP Adenosine Triphosphate BMI Body Mass Index BMT Behavioural (...) Inhibitor ACS Acute Coronary Syndrome AF Atrial Fibrillation AHA/ACC American Heart Association/american College Of Cardiology ARB Angiotensin Receptor Blocker ATP Adenosine Triphosphate BMI Body Mass Index BMT Behavioural Modification Therapy BP Blood Pressure CABG Coronary Artery Bypass Surgery CAD Coronary Artery Disease CAC Coronary Calcium Score CASS Coronary Artery Surgery Study CCB Calcium Channel Blockers CCS Canadian Cardiovascular Society CHF Congestive Heart Failure CHO Carbohydrate CKD

2018 Ministry of Health, Malaysia

137. CRACKCast E143 – Diving Injuries and Dysbarism

spaces in the body (lungs, bowel, sinuses, middle ear). These fragile structures (just like any other hollow tube (tire, balloon)) don’t do well when they are overfilled! Boyle’s Law : P1V1 = P2V2 (at a constant temp) The pressure and volume of a gas are inversely proportional to each other. …the volume of a gas (air) will decrease as the pressure (due to depth) increases. **this also applies to changes that occur in gas supplies** We care because as dives deeper (more pressure), the gas bubble (...) volume will decrease. The greatest change happens in the first 33 ft (100% → 50% volume change) Low pressure = high volume; high pressure = low volume. Charles’ Law: V1/T1 = V2/T2 Addresses the effect of temperature on gases: “at a constant pressure, the volume of a gas is directly proportional to the change in absolute temperature. Therefore, with head the volume of a gas will increase. General Gas Law: P1 x V1/T1 = P2 x V2/T2 This law combines charles’ boyle’s gas laws. It relates pressure, volume

2018 CandiEM

138. Standards and guidelines for clinical genetics laboratories - cytogenetics

. In addition, complete high resolution chromosome analysis should include detailed evaluation of all regions on all chromosome pairs at a level of resolution above the 650-band stage (resolution at the 850 level is 12 recommended) [see also E5.1.2]. E5.4 Peripheral Blood (Stimulated Lymphocytes): Heritable Fragile Sites (Including Fragile X) This section initially provided guidelines for the evaluation of patients for fragile X syndrome using the cytogenetic expression of the Xq27.3 (FRAXA) fragile site (...) . Such chromosome testing has been replaced by molecular genetic DNA evaluation of the FMR1 locus, and specific College recommendations have been published to cover such testing (see Section FX, "Technical Standards and Guidelines for Fragile X") [Maddalena et al., 2001; Monaghan, Lyon and Spector, 2013]. For the most part, testing/culturing for fragile sites is no longer performed in the Cytogenetics Laboratory. However, individuals performing chromosome analyses should be aware of their occurrence (e.g. fra

2018 American College of Medical Genetics and Genomics

139. CRACKCast E144 – High Altitude Medicine

descend immediately. Dyspnea at rest is an early symptom of HAPE . More advance findings of HAPE include marked rest tachypnea, cough productive of frothy sputum, and altered mentation. Immediate treatment with oxygen and descent are recommended. Altered consciousness and cerebellar ataxia are early signs of HACE . F ailure to initiate immediate treatment with oxygen, descent, and dexamethasone can result in permanent disability or death. AMS may be prevented by using acetazolamide or dexamethasone (...) less common < 1% with rapid ascents > 4300 meters. High-altitude pulmonary edema (HAPE) is the primary lung syndrome. HAPE is the leading cause of death from altitude illness . It’s incidence ranges from 0.01% to 15% with rapid ascents (as cited in Rosen’s from Auerbach 2012) The pathophysiologic effects of high altitude begin when the oxygen saturation of the arterial blood begins to fall below the 90% level. The sigmoidal shape of the oxyhemoglobin dissociation curve prevents a significant fall

2018 CandiEM

140. Coeliac disease: recognition, assessment and management

peripheral neuropathy or ataxia) unexplained subfertility or recurrent miscarriage Coeliac disease (NG20) © NICE 2019. All rights reserved. Subject to Notice of rights (https://www.nice.org.uk/terms-and- conditions#notice-of-rights). Page 8 of 22persistently raised liver enzymes with unknown cause dental enamel defects Down's syndrome Turner syndrome. 1.1.3 For people undergoing investigations for coeliac disease: explain that any test is accurate only if a gluten-containing diet is eaten during (...) . 1.4.4 Refer the person to a GP or consultant if concerns are raised in the annual review. The GP or consultant should assess all of the following: the need for a dual-energy X-ray absorptiometry (DEXA) scan (in line with the NICE guideline on osteoporosis: assessing the risk of fragility fracture) or active treatment of bone disease the need for specific blood tests Coeliac disease (NG20) © NICE 2019. All rights reserved. Subject to Notice of rights (https://www.nice.org.uk/terms-and- conditions

2015 National Institute for Health and Clinical Excellence - Clinical Guidelines

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