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Fragile X-Associated Tremor-Ataxia Syndrome

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141. Guideline for the management of adults with Systemic Lupus Erythematosus

outcome [ , , ]. In the meantime it is important to manage patients optimally with the treatment strategies that are available. Need for the guideline Despite some improvement in survival data over the last 40 years [ , ], lupus patients still die on average 25 years earlier than the mean for women and men in the UK [ ]. The disease can present with slowly or rapidly progressive active disease at any age and can be associated with the rapid accumulation of damage if not promptly diagnosed (...) and were published in 2008 [ ], although more specific recommendations were published for neuropsychiatric lupus in 2010 [ ], and joint EULAR and European Renal Association–European Dialysis and Transplant Association (EULAR/ERA-EDTA) recommendations for LN were published in 2012 [ ], as well as ACR guidelines for the management of LN in 2012 [ ]. Objectives of the guideline The aim of this guideline was to produce recommendations for the management of adult lupus patients in the UK that cover

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2017 British Society for Rheumatology

142. CRACKCast E126 – Diabetes Mellitus and Disorders of Glucose Homeostasis

and kidney. Our body maintains glucose homeostasis through endogenous glucose production and dietary glucose intake. There are many complex hormonal regulatory pathways to achieve this. Glucose regulatory hormones include insulin, glucagon, epinephrine, cortisol, and growth hormone. Insulin is the main glucose-lowering hormone. The American Diabetes Association (ADA) defines four major types of diabetes mellitus: Type 1 Diabetes Mellitus = autoimmune-related Typically seen in lean patients under the age (...) . The pathogenesis of prediabetes is thought to be related to insulin resistance. NOTE: Type 1 diabetes results from a chronic autoimmune process that usually exists in a preclinical state for years. The classic manifestations of type 1—hyperglycemia and ketosis—occur late in the course of the disease, and are an overt sign of beta cell destruction. [1] Define diabetic ketoacidosis (DKA) DKA is a syndrome in which insulin deficiency and glucagon excess combine to produce a hyperglycemic, dehydrated, acidotic

2017 CandiEM

143. Joint SOGC?CCMG Opinion for Reproductive Genetic Carrier Screening: An Update for All Canadian Providers of Maternity and Reproductive Healthcare in the Era of Direct-to-Consumer Testing

, or isolated cerebellar ataxia and tremor should be offered screening for this condition. (II-2A) (GRADE moderate/moderate) 2. History alone is appropriate for consultation by a medical genetics specialist, as family confirmation can be difficult to obtain and may delay carrier testing, especially if pregnant. (II-2A) (GRADE moderate/moderate) 3. Fragile X carrier testing must only occur after detailed genetic counselling and informed consent from the woman to be tested has been obtained. (III-A) (GRADE (...) College Obstetrics and Gynaecology [RCOG] [UK]; American Society of Human Genetics [ASHG]; International Society of Prenatal Diagnosis [ISPD])/provincial neonatal screening policies and programs; search terms (carrier screening, prenatal screening, neonatal genetic/metabolic screening, cystic fibrosis (CF), thalassemia, hemoglobinopathy, hemophilia, Fragile X syndrome (FXS), spinal muscular atrophy, Ashkenazi Jewish carrier screening, genetic carrier screening protocols, AR, AD, XL). Search Period 10

2016 Society of Obstetricians and Gynaecologists of Canada

144. Imaging Program Guidelines: Pediatric Imaging

include ataxia-telangiectasia, fragile X syndrome, congenital anomalies of the posterior fossa. Congenital or developmental anomaly Diagnosis or management (including perioperative evaluation) of a suspected or known congenital anomaly or developmental condition Examples include Chiari malformation, craniosynostosis, macrocephaly, and microcephaly. ? Ultrasound is required as the initial study to evaluate macrocephaly in patients under 5 months of age. Computed Tomography (CT) Head – PediatricsCT Head (...) or hereditary Examples include ataxia-telangiectasia, fragile X syndrome, congenital anomalies of the posterior fossa. Congenital or developmental anomaly Diagnosis or management (including perioperative evaluation) of a suspected or known congenital anomaly or developmental condition Examples include Chiari malformation, craniosynostosis, macrocephaly, and microcephaly. ? Ultrasound is required as the initial study to evaluate macrocephaly in patients under 5 months of age. Magnetic Resonance Imaging (MRI

2017 AIM Specialty Health

145. Carrier Screening for Genetic Conditions

of the fragile X CGG repeat in females with premutation or intermediate alleles. with permission from Elsevier and data from Pesso R, Berkenstadt M, Cuckle H, Gak E, Peleg L, Frydman M, et al. Screening for fragile X syndrome in women of reproductive age. . A person with 55–200 repeats does not have features associated with fragile X syndrome but is at increased risk of fragile X-associated tremor/ataxia syndrome (also known as FXTAS) and FMR1 -related premature ovarian failure. When more than 200 repeats (...) identified individuals with intermediate results and carriers of a fragile X premutation or full mutation should be provided follow-up genetic counseling to discuss the risk to their offspring of inheriting an expanded full-mutation fragile X allele and to discuss fragile X-associated disorders (premature ovarian insufficiency and fragile X tremor/ataxia syndrome). Prenatal Diagnostic Testing Prenatal diagnostic testing for fragile X syndrome should be offered to known carriers of the fragile X

2017 American College of Obstetricians and Gynecologists

146. Joint SOGC-CCMG Opinion for Reproductive Genetic Carrier Screening

, or isolated cerebellar ataxia and tremor should be offered screening for this condition. (II-2A) (GRADE moderate/moderate) 2. History alone is appropriate for consultation by a medical genetics specialist, as family confirmation can be difficult to obtain and may delay carrier testing, especially if pregnant. (II-2A) (GRADE moderate/moderate) 3. Fragile X carrier testing must only occur after detailed genetic counselling and informed consent from the woman to be tested has been obtained. (III-A) (GRADE (...) College Obstetrics and Gynaecology [RCOG] [UK]; American Society of Human Genetics [ASHG]; International Society of Prenatal Diagnosis [ISPD])/provincial neonatal screening policies and programs; search terms (carrier screening, prenatal screening, neonatal genetic/metabolic screening, cystic fibrosis (CF), thalassemia, hemoglobinopathy, hemophilia, Fragile X syndrome (FXS), spinal muscular atrophy, Ashkenazi Jewish carrier screening, genetic carrier screening protocols, AR, AD, XL). Search Period 10

2016 Society of Obstetricians and Gynaecologists of Canada

147. 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

148. Multiple sclerosis in adults: management

after diagnosis with significant impact on their ability to work, as well as an adverse and often highly debilitating effect on their quality of life and that of their families. This guideline replaces NICE clinical guideline 8 (2003) and covers diagnosis, information and support, treatment of relapse and management of MS-related symptoms. The guideline does not address all symptoms and problems associated with MS. Some areas are addressed in other NICE guidance for example urinary symptoms (...) and swallowing, and these are referenced where appropriate. Many of the interventions used in a rehabilitation setting to alleviate symptoms such as tremor, weakness, cardiorespiratory fitness, sensory loss, visual problems (apart from oscillopsia), and secondary complications of immobility such as deconditioning and contractures have not been covered because these are beyond the scope of the guideline. Many of these problems are complex and need individual assessment and management strategies

2014 National Institute for Health and Clinical Excellence - Clinical Guidelines

149. Acne clinical guideline

consensus was used to generate clinical recommendations. This guideline has been developed in accordance with the American Academy of Dermatology/American Academy of Dermatology Association “Administrative Regulations for Evidence-Based Clinical Practice Guidelines” (version approved August 2012), which include the opportunity for review and comment by the entire AAD membership and final review and approval by the AAD Board of Directors. x 4 American Academy of Dermatology website. Guideline development (...) ., Stables, G.I., and Cunliffe, W.J. Prevalence of facial acne in adults. J Am Acad Dermatol . 1999 ; 41 : 577–580 | | | There is no mortality associated with acne, but there is often significant physical and psychological morbidity, such as permanent scarring, poor self-image, depression, and anxiety. The direct cost of the disease is estimated to exceed $3 billion per year. x 6 Bhate, K. and Williams, H.C. Epidemiology of acne vulgaris. Br J Dermatol . 2013 ; 168 : 474–485 | | | Acne

2016 American Academy of Dermatology

150. Guideline on the management of premature ovarian insufficiency

for at least 4 months, and ? an elevated FSH level > 25 IU/l on two occasions > 4 weeks apart. GPP What are the known causes of POI and how should they be investigated? Chromosomal analysis should be performed in all women with non-iatrogenic Premature Ovarian Insufficiency. C Gonadectomy should be recommended for all women with detectable Y chromosomal material. C Fragile-X premutation testing is indicated in POI women. B The implications of the fragile-X premutation should be discussed before the test (...) -Ab/ACA and TPO-Ab are negative in women with POI, there is no indication for re-testing later in life, unless signs or symptoms of these endocrine diseases develop. C Test Implications Positive test Negative test Genetic/Chromosomal Karyotyping (for diagnosis of Turner syndrome) Refer to endocrinologist, cardiologist and geneticist A second analysis of the karyotype in epithelial cells (in case of high clinical suspicion) Test for Y-chromosomal material Discuss gonadectomy with the patient Fra-X

2015 European Society of Human Reproduction and Embryology

151. Genetics of Skin Cancer (PDQ®): Health Professional Version

that describe the evidence on each topic. Inheritance and Risk More than 100 types of tumors are clinically apparent on the skin; many are known to have familial and/or inherited components, either in isolation or as part of a syndrome with other features. and , which are known collectively as nonmelanoma skin cancer, are two of the most common malignancies in the United States and are often caused by sun exposure, although several hereditary syndromes and genes are also associated with an increased risk (...) of developing these cancers. is less common than nonmelanoma skin cancer, but 5% to 10% of all melanomas arise in multiple-case families and may be inherited in an autosomal dominant fashion. Associated Genes and Syndromes Several genes and hereditary syndromes are associated with the development of skin cancer. (BCNS, caused by pathogenic variants in and ) is associated with an increased risk of BCC, while syndromes such as , , , and are associated with an increased risk of SCC. The major tumor suppressor

2018 PDQ - NCI's Comprehensive Cancer Database

152. Unusual Cancers of Childhood Treatment (PDQ®): Health Professional Version

intrachromosomal rearrangements, are frequently found; among them, RET/PTC rearrangements are the most common.[ ] Genetic inheritance. Genetic inheritance plays a role in a subset of thyroid carcinomas. In children, medullary thyroid carcinoma is caused by a dominantly inherited or de novo gain-of-function mutation in the RET proto-oncogene associated with multiple endocrine neoplasia (MEN) type 2, either MEN2A or MEN2B, depending on the specific mutation.[ ] When occurring in patients with the MEN syndromes (...) , thyroid cancer may be associated with the development of other types of malignant tumors. (Refer to the section of the PDQ summary on for more information.) Family history. For thyroid carcinomas of follicular cells, only 5% to 10% are familial cancers. Of those, most familial cases are nonsyndromic, while only a minority occur in the setting of well-defined cancer syndromes with known germline alterations, including the following:[ , ] APC -associated polyposis. Carney complex. PTEN hamartoma tumor

2018 PDQ - NCI's Comprehensive Cancer Database

153. Genetics of Endocrine and Neuroendocrine Neoplasias (PDQ®): Health Professional Version

with von Hippel-Lindau disease. (Refer to the section in the PDQ summary on for more information.) Associated Genes and Syndromes MEN1, which is primarily associated with the development of , (NETs), and , is caused by germline pathogenic variants in the gene. The primary endocrine features of MEN2, which is subdivided into and , include (MTC); its precursor, ; ; and . MEN2 is caused by germline pathogenic variants in the gene. MEN4 is a rare syndrome with clinical features that overlap with the other (...) , in accordance with treatment for other familial syndromes such as MEN1. are also treated surgically. Preoperative management aimed at preventing catecholamine-induced complications of the surgery is common. The mainstay of is complete surgical resection of the tumor. The timing of the operation correlates with the presentation of the tumor. Thyroid cancers associated with FNMTC are also , commonly with a total thyroidectomy. Patients who undergo a total thyroidectomy must receive lifelong thyroid hormone

2018 PDQ - NCI's Comprehensive Cancer Database

154. Exploration of Intellectual Disability and Neurodegenerative Diseases With Exome Sequencing

/santepub/depistage-prenatal/professionnels/index.php?Trisomie-21. 2 leading cause, accounting for 0.5% of ID cases, is associated with a FMR1 gene mutation (fragile X syndrome). 4 Several other genes on the X chromosome, but also on the autosomes, have been associated with syndromic ID [Campeau et al., 2013; Carss et al., 2013; Mefford et al., 2012; Coffee et al., 2009; Crawford et al., 2001; Amir et al., 1999; Hamel et al., 1999]. A specific genetic cause remains unknown for 55% to 60% of ID patients (...) ., 2012]. As is the case for ID, determining the etiology is complex, not only because of the substantial genetic heterogeneity, but also because of the influence of environmental factors. Thus far, for Alzheimer disease alone, 695 genes — whose protein roles range from lipid transport (APOE, CLU) to immune response (CD33, EPHA1) — have been associated with this disease. 7 4 Centers for Disease Control and Prevention. Fragile X syndrome (FXS) [website], available at http://www.cdc.gov/ncbddd/fxs

2015 Canadian Agency for Drugs and Technologies in Health - Rapid Review

155. Guidance on the clinical management of depressive and bipolar disorders, specifically focusing on diagnosis and treatment strategies

Kristina Fritz, Professor Malcolm Hopwood, Dr Bill Lyndon, Professor Roger Mulder, Professor Greg Murray, Professor Richard Porter and Associate Professor Ajeet Singh. International expert advisors: Professor Carlo Altamura, Dr Francesco Colom, Professor Mark George, Professor Guy Goodwin, Professor Roger McIntyre, Dr Roger Ng, Professor John O’Brien, Professor Harold Sackeim, Professor Jan Scott, Dr Nobuhiro Sugiyama, Professor Eduard Vieta, Professor Lakshmi Yatham. Australian and New Zealand expert (...) Depressive Disorder (MDD) to Bipolar I Disorder (BD I), sometimes ‘via’ Bipolar II Disorder (BD II). Research has revealed ‘commonalities rather than differences’ in the two groups of disorders (depressive disorders and bipolar and related disorders, American Psychiatric Association (APA), 2013; Barlow et al., 2004) and their treatments overlap considerably; with the same medications and similar psychological interventions used in both. Thus a unified approach to the diagnosis and management of mood

2015 Royal Australian and New Zealand College of Psychiatrists

156. 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

157. Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease. (PubMed)

Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease. Noncoding repeat expansions cause various neuromuscular diseases, including myotonic dystrophies, fragile X tremor/ataxia syndrome, some spinocerebellar ataxias, amyotrophic lateral sclerosis and benign adult familial myoclonic epilepsies. Inspired by the striking similarities in the clinical and neuroimaging findings between neuronal intranuclear inclusion (...) disease (NIID) and fragile X tremor/ataxia syndrome caused by noncoding CGG repeat expansions in FMR1, we directly searched for repeat expansion mutations and identified noncoding CGG repeat expansions in NBPF19 (NOTCH2NLC) as the causative mutations for NIID. Further prompted by the similarities in the clinical and neuroimaging findings with NIID, we identified similar noncoding CGG repeat expansions in two other diseases: oculopharyngeal myopathy with leukoencephalopathy and oculopharyngodistal

2019 Nature Genetics

158. Palliative care - malignant skin ulcer

. The daily dosage should be reduced to one-third and may be administered once daily [ ; ]. For prolonged use, as prolonged therapy may be associated with peripheral neuropathy or leucopenia. Both effects are usually reversible. It is recommended that a full blood count be carried out regularly and that people should be monitored for adverse reactions such as peripheral or central neuropathy (including paraesthesia, ataxia, dizziness, or convulsive seizures) [ ]. Prescribe topical metronidazole (...) measures Goals Goals To support primary healthcare professionals to: Make an accurate diagnosis of a malignant skin ulcer. Be aware of possible complications of a malignant skin ulcer. Appropriately assess and manage an ulcer and associated problems. Provide appropriate advice and support to people, their families, and carers. Where appropriate, refer to oncology or a palliative care specialist. Outcome measures Outcome measures No outcome measures were found during the review of this topic. Audit

2017 NICE Clinical Knowledge Summaries

159. Scientific Rationale for the Inclusion and Exclusion Criteria for Intravenous Alteplase in Acute Ischemic Stroke

Share on Jump to Free Access article Scientific Rationale for the Inclusion and Exclusion Criteria for Intravenous Alteplase in Acute Ischemic Stroke A Statement for Healthcare Professionals From the American Heart Association/American Stroke Association , MD, MSc, FRCPC, FAHA, Chair , MD, FAHA, Vice-Chair , MD, MS, FAHA , MD , DO , MD , MD, MS, FAHA , MD, MBA, FAHA , PhD , MD, MS, FAHA , MD, MSc, FAHA , and MD, FAHA MD, MPH, FAHAon behalf of the American Heart Association Stroke Council and Council (...) on Epidemiology and Prevention Bart M. Demaerschalk , Dawn O. Kleindorfer , Opeolu M. Adeoye , Andrew M. Demchuk , Jennifer E. Fugate , James C. Grotta , Alexander A. Khalessi , Elad I. Levy , Yuko Y. Palesch , Shyam Prabhakaran , Gustavo Saposnik , Jeffrey L. Saver , and Eric E. Smith and on behalf of the American Heart Association Stroke Council and Council on Epidemiology and Prevention Originally published 22 Dec 2015 Stroke. 2015;47:581–641 You are viewing the most recent version of this article

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2015 American Heart Association

160. Scientific rationale for the inclusion and exclusion criteria for intravenous alteplase in acute ischemic stroke

for the Inclusion and Exclusion Criteria for Intravenous Alteplase in Acute Ischemic Stroke A Statement for Healthcare Professionals From the American Heart Association/American Stroke Association , MD, MSc, FRCPC, FAHA, Chair , MD, FAHA, Vice-Chair , MD, MS, FAHA , MD , DO , MD , MD, MS, FAHA , MD, MBA, FAHA , PhD , MD, MS, FAHA , MD, MSc, FAHA , and MD, FAHA MD, MPH, FAHAon behalf of the American Heart Association Stroke Council and Council on Epidemiology and Prevention Bart M. Demaerschalk , Dawn O (...) . Kleindorfer , Opeolu M. Adeoye , Andrew M. Demchuk , Jennifer E. Fugate , James C. Grotta , Alexander A. Khalessi , Elad I. Levy , Yuko Y. Palesch , Shyam Prabhakaran , Gustavo Saposnik , Jeffrey L. Saver , and Eric E. Smith and on behalf of the American Heart Association Stroke Council and Council on Epidemiology and Prevention Originally published 22 Dec 2015 Stroke. 2016;47:581–641 You are viewing the most recent version of this article. Previous versions: Abstract Purpose— To critically review

2015 American Academy of Neurology

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