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Fragile X-Associated Tremor-Ataxia Syndrome

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161. Developmental rheumatology in children

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 In-toeing In-toeing describes medial or internal rotation (...) — 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; and joint sprains or dislocation. Overlap with developmental

2019 NICE Clinical Knowledge Summaries

162. 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

163. 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

164. Leg ulcer - venous

wound healing. Measuring the ankle-brachial pressure index in both legs to exclude arterial insufficiency. Primary care management includes: Cleaning and dressing the wound. Starting compression therapy if appropriate. Considering prescribing pentoxifylline to increase microcirculatory blood flow and improve ulcer healing. Managing associated conditions, such as oedema and venous eczema. Managing complications, such as pain and infection. Providing information and lifestyle advice to promote ulcer (...) associated conditions (such as oedema and venous eczema). Manage complications of the ulcer (such as pain and infection). Provide self-care advice to a person with a venous leg ulcer. Reduce the risk of recurrence of venous leg ulcer. Recognize when to refer a person with a venous leg ulcer to a specialist. Outcome measures Outcome measures There are no national outcome measures associated with this topic. Audit criteria Audit criteria No audit criteria were found during the review of this topic. QOF

2019 NICE Clinical Knowledge Summaries

165. A systematic review of the clinical effectiveness and cost-effectiveness of sensory, psychological and behavioural interventions for managing agitation in older adults with dementia

for Health. This issue may be freely reproduced for the purposes of private research and study and extracts (or indeed, the full report) may be included in professional journals provided that suitable acknowledgement is made and the reproduction is not associated with any form of advertising. Applications for commercial reproduction should be addressed to: NIHR Journals Library, National Institute for Health Research, Evaluation, Trials and Studies Coordinating Centre, Alpha House, University (...) in professional journals provided that suitable acknowledgement is made and the reproduction is not associated with any form of advertising. Applications for commercial reproduction should be addressed to: NIHR Journals Library, National Institute for Health Research, Evaluation, Trials and Studies Coordinating Centre, Alpha House, University of Southampton Science Park, Southampton SO16 7NS, UK.Results: We included 160 out of 1916 papers screened. Supervised person-centred care, communication skills (SES

2014 NIHR HTA programme

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

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 MEN (...) 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 replacement

2018 PDQ - NCI's Comprehensive Cancer Database

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

/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 syndrome. Werner syndrome. DICER1 syndrome. Histology

2018 PDQ - NCI's Comprehensive Cancer Database

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

in the literature than Rombo syndrome. Inheritance is accomplished in an X-linked dominant fashion, with no reported male-to-male transmission.[ - ] Regional assignment of the locus of interest to chromosome Xq24-q27 is associated with a maximum LOD score of 5.26 with the DXS1192 locus.[ ] Further work has narrowed the potential location to an 11.4-Mb interval on chromosome Xq25-27; however, the causative gene remains unknown.[ ] Characteristic physical findings include hypotrichosis, hypohidrosis, milia (...) 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

2018 PDQ - NCI's Comprehensive Cancer Database

169. Lacerations Full Text available with Trip Pro

if: There is possible vascular, nerve, or tendon damage. It is a facial laceration. It is a laceration of the palm of the hand with any sign of infection. There is associated cellulitis over a joint. There is a possible foreign body remaining in the wound after cleaning, including all injuries caused by glass. The laceration is complex, widely gaping, or extensively devitalized. There is a tetanus-prone wound, which includes wounds that require surgical intervention which has been delayed for more than six hours (...) or ibuprofen for pain relief, if needed; and keep the wound clean and dry to reduce the risk of infection. Removal of wound closure (if necessary). Have I got the right topic? Have I got the right topic? From birth onwards. This CKS topic covers the management of lacerations in primary care. This CKS topic does not cover the management of skin tears (traumatic injuries presenting in people with fragile skin, including neonates and elderly people). There are separate CKS topics on and . The target audience

2018 NICE Clinical Knowledge Summaries

170. Autism in children

encephalopathy. Chromosomal disorders, such as Down's syndrome. Genetic disorders, such as fragile X. Muscular dystrophy. Neurofibromatosis. Tuberous sclerosis. [ ; ] Prevalence How common is it? Autism spectrum disorder (ASD) is one of the most common childhood onset neurodevelopmental disorders [ ] . The estimated prevalence in children is at least 1%, with relative consistency across studies [ ; ]. There are about 3–4 times more boys affected by ASD than girls, although this varies across the spectrum (...) . Gastrointestinal disturbance, such as diarrhoea, abdominal pain, and constipation. Sensory issues. The severity and impact of ASD varies greatly depending on age, development, and presence or absence of associated conditions. Asperger syndrome is a different form of ASD. People with Asperger syndrome are of average or above average intelligence and do not have the learning disabilities that many people with autism have (although they may have specific learning difficulties). They usually have fewer problems

2018 NICE Clinical Knowledge Summaries

171. Nappy rash

. Skin trauma — for example, mechanical friction from skin contact with nappies or over-vigorous cleaning. Medication — recent broad-spectrum antibiotics, in particular, predispose to candida colonization; other drugs that increase stool frequency may also increase the risk. Gestational age — pre-term infants are at increased risk of developing nappy rash and secondary infection due to the reduced barrier function of immature skin. Diarrhoea — including conditions associated with increased stool (...) on assessment are based on expert opinion in review articles on nappy rash [ ; ; ; ; ; ; ]. Identification and treatment of oral candidiasis If oral candidiasis is present and left untreated, it increases the likelihood of candidal infection of the nappy area and recurrent nappy rash [ ; ]. A review article cites case series which demonstrate oral Candida infection to be associated with candidal nappy rash due to excretion of Candida spp. in the faeces [ ]. When to arrange skin swabs Skin swabs

2018 NICE Clinical Knowledge Summaries

172. 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 (...) 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 criteria Audit

2018 NICE Clinical Knowledge Summaries

173. Acne clinical guideline Full Text available with Trip Pro

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

174. Autism: Should My Child Take Medicine for Challenging Behavior?

. Autism symptoms, thinking and learning ability, behaviors, and other medical factors can affect daily functioning. ? What is the cause of autism? The exact cause of autism is not known. Some children have autism as part of a genetic disorder such as Fragile X, Tuberous Sclerosis or Angelman’s syndrome. Being exposed to certain diseases or chemicals during pregnancy has also been linked to autism. For most children the cause is not known. Scientists think that there are many factors. Important factors (...) : Sleepiness Irritability Less Common: Aggression Less appetite Low blood pressure Constipation Anti-Anxiety Medicines fluoxetine (Prozac) fluvoxamine (Luvox) sertraline (Zoloft) paroxetine (Paxil) citalopram (Celexa) escitalopram (Lexapro) Depression Anxiety Repeating thoughts Repeating behaviors Common: GI problems (nausea, vomiting, constipation, low appetite) Headaches Problems falling asleep Sleepiness Agitation Weight gain Less common: Seizure Thoughts of harming self Suicide Serotonin syndrome

2019 OHRI

175. 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

176. Zydelig - idelalisib

Investigational New Drug (Application) iNHL indolent non-Hodgkin lymphoma IRC independent review committee ITT intent-to-treat KM Kaplan-Meier LDH lactate dehydrogenase LPL lymphoplasmacytic lymphoma m module mAb monoclonal antibody MALT mucosa-associated lymphoid tissue MCL mantle cell lymphoma MedDRA Medical Dictionary for Regulatory Activities MID minimally important difference MM multiple myeloma MR minor response MRI magnetic resonance imaging MST medical search term MZL marginal zone lymphoma N or n (...) spectroscopy, ultraviolet absorption (UV) and x-ray diffraction. The molecular formula is confirmed by elemental analysis. Manufacture, characterisation and process controls The active substance is synthesised in five steps using commercially available and well defined starting materials. The final active substance is purified by crystallisation. According to the synthetic process described the active substance is consistently obtained as the S-enantiomer. The manufacturing development of the active

2014 European Medicines Agency - EPARs

177. Scientific Rationale for the Inclusion and Exclusion Criteria for Intravenous Alteplase in Acute Ischemic Stroke Full Text available with Trip Pro

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

2015 American Heart Association

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

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

179. Nuedexta - dextromethorphan hydrobromide / quinidine sulfate

%]), and phenytoin (17 [1.4%]). MAO inhibitors were disallowed as concomitant medications in all of the sponsor’s clinical studies, because of the possibility that they may have produced serotonin syndrome when administered in combination with DM. Nevertheless, a total of 3 subjects received MAO inhibitors during the sponsored clinical trials (protocol violations); all were PBA patients enrolled in Study 02-AVR-107, 2 receiving selegeline, and one receiving phenelzine. No association between the above (...) pharmacodynamics of dextromethorphan hydrobromide (DM) and quinidine sulfate (Q) have been previously evaluated and are well-documented in the literature. There is also extensive clinical experience with DM and Q. Therefore a limited pharmacology package was submitted to support the fixed dose combination, which was acceptable. The etiology of PBA is not completely understood; however, the neurologic insults that are associated with PBA are thought to increase the activity of the excitatory glutamate pathways

2013 European Medicines Agency - EPARs

180. Studies of Brain and Body Interaction

such as Autism Spectrum Disorder(s), including those who may also have an ADHD (Attention-deficit/hyperactivity disorder) diagnosis, Asperger's Syndrome, Alzheimer's Disease, and/or Fragile X syndrome Condition or disease Autistic Disorders Spectrum Adhd Asperger Syndrome Alzheimer Disease Parkinson Tremor Essential Dementia, Alzheimer Type Lewy Body Dementia With Behavioral Disturbance (Disorder) Dementia With Lewy Bodies Dementia Frontal Detailed Description: What is the study for? The goal of this study (...) the inherent properties of the biorhythms of each person in order to build a proper neurotypical scale and measure the departure of several groups of subjects from this typical ranges. These include Autism Spectrum Disorder(s), ADHD (Attention-deficit/hyperactivity disorder) , Asperger's Syndrome, Alzheimer's Disease, and/or Fragile X syndrome. This study does not provide any recommendations of diagnosis or treatment. It is merely a characterization of the person's biorhythms across these conditions. What

2018 Clinical Trials

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