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Fragile X-Associated Tremor-Ataxia Syndrome

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141. 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

142. 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

143. 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

2017 British Society for Rheumatology

144. 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

145. Interventions Targeting Sensory Challenges in Children with Autism Spectrum Disorder - An Update

and cerebellum of three older men with fragile X syndrome. Mol Autism. 2011;2(1):2. doi: 10.1186/2040-2392-2-2. PMID: 21303513.X-1 653. Greer RD, Pistoljevic N, Cahill C, et al. Effects of conditioning voices as reinforcers for listener responses on rate of learning, awareness, and preferences for listening to stories in preschoolers with autism. Anal Verbal Behav. 2011;27(1):103- 24. PMID: 22532758.X-1, X-3, X-4 D-56 654. Griffith GM, Hastings RP, Oliver C, et al. Psychological well-being in parents (...) Article.X-1 662. Hameury L, Delavous P, Leroy C. [Hippotherapy in the paedopsychiatric care project]. Soins Pediatr Pueric. 2011 Jan- Feb(258):37-40. PMID: 21328838.X-1, X-3 663. Hamilton A, Marshal MP, Murray PJ. Autism spectrum disorders and menstruation. J Adolesc Health. 2011 Oct;49(4):443-5. doi: 10.1016/j.jadohealth.2011.01.015. PMID: 21939879.X-1 664. Hampson DR, Adusei DC, Pacey LK. The neurochemical basis for the treatment of autism spectrum disorders and Fragile X Syndrome. Biochem Pharmacol

2017 Effective Health Care Program (AHRQ)

146. First- and Second-Generation Antipsychotics in Children and Young Adults: Systematic Review Update

. doi: https://doi.org/10.23970/AHRQEPCCER184.iii Errata In the original version of this report there was an error with respect to review findings for gains in weight and body mass index (BMI) from the trial on lurasidone for the treatment of irritability associated with autistic disorder (Loebel et al. J Autism Dev Disord 2016;46:1153-63). We thank Sunovion Pharmaceuticals for bringing this to our attention. Our original report used data for the mean change in percentile instead of the mean change (...) and Christine Chang, for their efforts in helping us engage with Key Informants and the Technical Expert Panel for this review; they also provided constructive comments on our draft report. Additionally, we greatly value the time spent and excellent comments on our report by EPC Associate Editor Marian McDonagh. Key Informants In designing the study questions, the EPC consulted several Key Informants who represent the end-users of research. The EPC sought the Key Informant input on the priority areas

2017 Effective Health Care Program (AHRQ)

147. 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

148. Acute lymphoblastic leukemia

and inherited diseases with excessive chromosomal fragility such as Fanconi’s anemia, Bloom’s syndrome and ataxia-telangiectasia have a higher risk of developing ALL (Jabbour, et al 2005). However, in the majority of ALL patients no gross chromosomal alteration is noted suggesting that additional submicroscopic genetic alterations likely contribute to leukaemogenesis (Inaba, et al 2013). Genome-wide association studies of childhood ALL (Inaba, et al 2013) have noted common allelic variants in IKZF1, ARID5B (...) ) relatively specific. t(12;21)(p13;q22); TEL-AML1 (ETV6- RUNX1) Rare in adulthood CD19+ve, CD10+ve, CD34 +ve (commonly) May have near or complete absence of CD9/CD220/CD66c Myleoid antigens (CD13) frequently expressed. ?necessary but sufficient for leukemic translocation? Hyperdiploidy >50 and usually 30 x 10 9 /L for Pre-B ALL or >100 x 10 9 /L for T-ALL) was associated with inferior RFS and OS (Storring, et al 2009). The role of age and WBC was questiond by the Southwest Oncology Group (SWOG) who noted

2016 CPG Infobase

149. Assessment, diagnosis and interventions for autism spectrum disorders

is not causal 3 Non-analytic studies, eg case reports, case series 4 Expert opinion RECOMMENDATIONS Some recommendations can be made with more certainty than others. The wording used in the recommendations in this guideline denotes the certainty with which the recommendation is made (the ‘strength’ of the recommendation). The ‘strength’ of a recommendation takes into account the quality (level) of the evidence. Although higher-quality evidence is more likely to be associated with strong recommendations than (...) and diagnosis 6 2.3 Non-pharmacological interventions for children 6 2.4 Non-pharmacological interventions for adults 6 3 Definitions and concepts 7 3.1 Definitions 7 3.2 Diagnostic criteria 7 4 Recognition, assessment and diagnosis 8 4.1 Recognition in primary care 8 4.2 Methods of assessment 12 4.3 Individual profiling 15 4.4 Conditions associated with ASD 16 4.5 Biomedical investigations 17 4.6 Prognostic indicators in childhood 19 5 Principles of intervention 20 6 Non-pharmacological interventions

2016 SIGN

150. 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

151. 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

152. Briviact - brivaracetam

/2015 Page 4/121 HRQoL Health-Related Quality of Life HSS hypersensitivity syndrome i.v. intravenous IC 50 Half-maximal inhibitory concentration ICH International Conference on Harmonisation of Technical Requirements for Registration of Pharmaceuticals for Human Use ILAE International League Against Epilepsy IPC In-process control IR Infrared ITT Intent-to-Treat KF Karl Fischer titration Ki inhibitory constant LDPE Low Density Polyethylene LEV levetiracetam LS least square LTFU long-term follow-up (...) volume of distribution XRPD X-Ray Powder Diffraction Assessment report EMA/CHMP/822086/2015 Page 6/121 1. Background information on the procedure 1.1. Submission of the dossier The applicant UCB Pharma SA submitted on 20 November 2014 an application for Marketing Authorisation to the European Medicines Agency (EMA) for Briviact, through the centralised procedure under Article 3 (2)(a) of Regulation (EC) No 726/2004. The eligibility to the centralised procedure was agreed upon by the EMA/CHMP on 21

2016 European Medicines Agency - EPARs

153. Hypercalcaemia

parathyroid adenoma is the cause in about 85% of cases [ ; ; ]. Less commonly, secretion is from multiglandular parathyroid hyperplasia, ectopic parathyroid adenomas, or parathyroid cancer (very rare) [ ; ]. It may be associated with rare inherited endocrinopathies including multiple endocrine neoplasia (MEN) type 1 and type 2A syndromes, hyperparathyroidism jaw tumour syndrome, and familial isolated hyperparathyroidism [ ; ; ]. Malignancy Malignancy is the second most common cause of hypercalcaemia (...) is secretion of parathyroid hormone-related protein and other circulating factors by the tumour (a paraneoplastic syndrome). In 20% bone metastases cause osteolysis and release of skeletal calcium, for example in breast cancer and multiple myeloma. The malignancies most commonly associated with hypercalcaemia include breast, lung, oesophageal, head and neck, skin, cervix, breast, kidney, and bladder cancer [ ; ; ; ]. Drugs Thiazide diuretics Hypercalcaemia is usually mild and caused by reduced urinary

2019 NICE Clinical Knowledge Summaries

154. Developmental rheumatology in children. Scenario: Hypermobility in children

; and joint sprains or dislocation. Overlap with developmental coordination disorder, motor delays, chronic fatigue syndrome, and fibromyalgia may occur [ ; ; ; ]. Joint hypermobility may be a feature of an underlying multisystem, connective tissue, skeletal dysplasia, or genetic disorder. These include [ ; ; ; ; ]: Marfan syndrome. Ehlers-Danlos syndrome. Some types of osteogenesis imperfecta. Pseudoxanthoma elasticum. Pseudoachondroplasia. Fragile-X, Down's, Williams, and Sticklers syndromes. In-toeing (...) sportspeople and dancers [ ]. Some people are symptomatic — this is known as joint hypermobility syndrome. Features include joint hypermobility with muscle and joint pain and fatigue, especially in the evening after an active day; late walking with bottom shuffling instead of walking; poor handwriting and ball catching skills; and, rarely, easy bruising and joint clicking; abdominal pain which may be associated with bladder and bowel dysfunction; postural orthostatic tachycardia syndrome (POTS); hernia

2019 NICE Clinical Knowledge Summaries

155. Developmental rheumatology in children. Scenario: In-toeing gait in children

; and joint sprains or dislocation. Overlap with developmental coordination disorder, motor delays, chronic fatigue syndrome, and fibromyalgia may occur [ ; ; ; ]. Joint hypermobility may be a feature of an underlying multisystem, connective tissue, skeletal dysplasia, or genetic disorder. These include [ ; ; ; ; ]: Marfan syndrome. Ehlers-Danlos syndrome. Some types of osteogenesis imperfecta. Pseudoxanthoma elasticum. Pseudoachondroplasia. Fragile-X, Down's, Williams, and Sticklers syndromes. In-toeing (...) sportspeople and dancers [ ]. Some people are symptomatic — this is known as joint hypermobility syndrome. Features include joint hypermobility with muscle and joint pain and fatigue, especially in the evening after an active day; late walking with bottom shuffling instead of walking; poor handwriting and ball catching skills; and, rarely, easy bruising and joint clicking; abdominal pain which may be associated with bladder and bowel dysfunction; postural orthostatic tachycardia syndrome (POTS); hernia

2019 NICE Clinical Knowledge Summaries

156. Developmental rheumatology in children. Scenario: Heel pain in children

; and joint sprains or dislocation. Overlap with developmental coordination disorder, motor delays, chronic fatigue syndrome, and fibromyalgia may occur [ ; ; ; ]. Joint hypermobility may be a feature of an underlying multisystem, connective tissue, skeletal dysplasia, or genetic disorder. These include [ ; ; ; ; ]: Marfan syndrome. Ehlers-Danlos syndrome. Some types of osteogenesis imperfecta. Pseudoxanthoma elasticum. Pseudoachondroplasia. Fragile-X, Down's, Williams, and Sticklers syndromes. In-toeing (...) sportspeople and dancers [ ]. Some people are symptomatic — this is known as joint hypermobility syndrome. Features include joint hypermobility with muscle and joint pain and fatigue, especially in the evening after an active day; late walking with bottom shuffling instead of walking; poor handwriting and ball catching skills; and, rarely, easy bruising and joint clicking; abdominal pain which may be associated with bladder and bowel dysfunction; postural orthostatic tachycardia syndrome (POTS); hernia

2019 NICE Clinical Knowledge Summaries

157. Developmental rheumatology in children. Scenario: Knock knees in children

; and joint sprains or dislocation. Overlap with developmental coordination disorder, motor delays, chronic fatigue syndrome, and fibromyalgia may occur [ ; ; ; ]. Joint hypermobility may be a feature of an underlying multisystem, connective tissue, skeletal dysplasia, or genetic disorder. These include [ ; ; ; ; ]: Marfan syndrome. Ehlers-Danlos syndrome. Some types of osteogenesis imperfecta. Pseudoxanthoma elasticum. Pseudoachondroplasia. Fragile-X, Down's, Williams, and Sticklers syndromes. In-toeing (...) sportspeople and dancers [ ]. Some people are symptomatic — this is known as joint hypermobility syndrome. Features include joint hypermobility with muscle and joint pain and fatigue, especially in the evening after an active day; late walking with bottom shuffling instead of walking; poor handwriting and ball catching skills; and, rarely, easy bruising and joint clicking; abdominal pain which may be associated with bladder and bowel dysfunction; postural orthostatic tachycardia syndrome (POTS); hernia

2019 NICE Clinical Knowledge Summaries

158. Developmental rheumatology in children. Scenario: Delayed walking in children

; and joint sprains or dislocation. Overlap with developmental coordination disorder, motor delays, chronic fatigue syndrome, and fibromyalgia may occur [ ; ; ; ]. Joint hypermobility may be a feature of an underlying multisystem, connective tissue, skeletal dysplasia, or genetic disorder. These include [ ; ; ; ; ]: Marfan syndrome. Ehlers-Danlos syndrome. Some types of osteogenesis imperfecta. Pseudoxanthoma elasticum. Pseudoachondroplasia. Fragile-X, Down's, Williams, and Sticklers syndromes. In-toeing (...) sportspeople and dancers [ ]. Some people are symptomatic — this is known as joint hypermobility syndrome. Features include joint hypermobility with muscle and joint pain and fatigue, especially in the evening after an active day; late walking with bottom shuffling instead of walking; poor handwriting and ball catching skills; and, rarely, easy bruising and joint clicking; abdominal pain which may be associated with bladder and bowel dysfunction; postural orthostatic tachycardia syndrome (POTS); hernia

2019 NICE Clinical Knowledge Summaries

159. Developmental rheumatology in children. Scenario: Out-toeing

; and joint sprains or dislocation. Overlap with developmental coordination disorder, motor delays, chronic fatigue syndrome, and fibromyalgia may occur [ ; ; ; ]. Joint hypermobility may be a feature of an underlying multisystem, connective tissue, skeletal dysplasia, or genetic disorder. These include [ ; ; ; ; ]: Marfan syndrome. Ehlers-Danlos syndrome. Some types of osteogenesis imperfecta. Pseudoxanthoma elasticum. Pseudoachondroplasia. Fragile-X, Down's, Williams, and Sticklers syndromes. In-toeing (...) sportspeople and dancers [ ]. Some people are symptomatic — this is known as joint hypermobility syndrome. Features include joint hypermobility with muscle and joint pain and fatigue, especially in the evening after an active day; late walking with bottom shuffling instead of walking; poor handwriting and ball catching skills; and, rarely, easy bruising and joint clicking; abdominal pain which may be associated with bladder and bowel dysfunction; postural orthostatic tachycardia syndrome (POTS); hernia

2019 NICE Clinical Knowledge Summaries

160. Developmental rheumatology in children. Scenario: Tip-toe walking

; and joint sprains or dislocation. Overlap with developmental coordination disorder, motor delays, chronic fatigue syndrome, and fibromyalgia may occur [ ; ; ; ]. Joint hypermobility may be a feature of an underlying multisystem, connective tissue, skeletal dysplasia, or genetic disorder. These include [ ; ; ; ; ]: Marfan syndrome. Ehlers-Danlos syndrome. Some types of osteogenesis imperfecta. Pseudoxanthoma elasticum. Pseudoachondroplasia. Fragile-X, Down's, Williams, and Sticklers syndromes. In-toeing (...) sportspeople and dancers [ ]. Some people are symptomatic — this is known as joint hypermobility syndrome. Features include joint hypermobility with muscle and joint pain and fatigue, especially in the evening after an active day; late walking with bottom shuffling instead of walking; poor handwriting and ball catching skills; and, rarely, easy bruising and joint clicking; abdominal pain which may be associated with bladder and bowel dysfunction; postural orthostatic tachycardia syndrome (POTS); hernia

2019 NICE Clinical Knowledge Summaries

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