Her presentation was excellent! [zhao-lab.com]

Note: All Day with the Experts presentations are recorded and archived. [waisman.wisc.edu]

This presentation will includes sources of decision-making support and skill building opportunities for youth and young adults. [dsaw.org]

In the first of two families studied, 2/6 males with ID present with ASD; in the second family, 1 of 8 with ID present with ASD. [gene.sfari.org]

[…] extremely rare (one cohort documented in the world literature) condition (OMIM:311510) characterised by early-onset parkinsonism (postural changes, tremor, rigidity), defects of the basal ganglia, megalencephaly, mental retardation and other variably present [medical-dictionary.thefreedictionary.com]

• Progressive Dementia

  Dementia, progressive Progressive dementia [ more ] 0000726 Percent of people who have these symptoms is not available through HPO Bradykinesia Slow movements Slowness of movements [ more ] 0002067 Dysarthria Difficulty articulating speech 0001260 Dyskinesia [rarediseases.info.nih.gov]

• Frontal Bossing

  Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures. It has been described in three generations of one family. Transmission is X-linked, and the gene is located on chromosomal region Xq27.3-qter. [malacards.org]

  bossing, persistent frontal lobe reflexes, strabismus and seizures. [medical-dictionary.thefreedictionary.com]

• Bradykinesia

  MalaCards based summary : Waisman Syndrome, also known as bgmr, is related to white sponge nevus 1 and pettigrew syndrome, and has symptoms including tremor, bradykinesia and muscle rigidity. [malacards.org]

  Patients showed unilateral rest tremor and bradykinesia; one of them also displayed an early-onset postural tremor. [moh-it.pure.elsevier.com]

  Seizure 0001250 Strabismus Cross-eyed Squint Squint eyes [ more ] 0000486 5%-29% of people have these symptoms Dementia Dementia, progressive Progressive dementia [ more ] 0000726 Percent of people who have these symptoms is not available through HPO Bradykinesia [rarediseases.info.nih.gov]

• Shuffling Gait

  gait Shuffled walk 0002362 X-linked recessive inheritance 0001419 Showing of 20 | Last updated: 3/1/2020 If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. [rarediseases.info.nih.gov]

  gait, and adducted thumbs (MASA) syndrome, Hydrocephalus due to congenital stenosis of aqueduct of Sylvius, Spastic, CRASH syndrome, Corpus callosum, partial agenesis XL 80 292 MED12 Ohdo syndrome, Mental retardation, with Marfanoid habitus, FG syndrome [blueprintgenetics.com]

• Global Developmental Delay

  developmental delay 0001263 Lewy bodies 0100315 Megalencephaly 0001355 Parkinsonism 0001300 Poor speech 0002465 Resting tremor Tremor at rest 0002322 Shuffling gait Shuffled walk 0002362 X-linked recessive inheritance 0001419 Showing of 20 | Last updated [rarediseases.info.nih.gov]

(See Prognosis, Clinical, and Workup.) Patient education For patient education information, see the Lung Disease and Respiratory Health Center, as well as Croup. [emedicine.medscape.com]

CC and NH were involved in executing the clinical workup and AT in managing the database of clinical information. JH, CM, and PZ directly contributed to the data interpretation. All authors were involved in the preparation of this manuscript. [molecularautism.biomedcentral.com]

• White Matter Lesions

  A novel GFAP mutation and disseminated white matter lesions: adult Alexander disease? Eur Neurol. 2003;50:100??5. [PubMed: 12944715] Delnooz CC, Schelhaas JH, van de Warrenburg BP, de Graaf RJ, Salomons GS. [genereviews.nrdrs.org.cn]

Substance Abuse Treatment Services St. [nofas.org]

By investigating Rett syndrome at a cellular level, Chang hopes to show how Rett syndrome occurs and to screen drugs for the possible treatment of Rett syndrome. [waisman.wisc.edu]

This is why detox treatments, all detox treatments, are very ineffective for addiction. In one study a bupe detox was compared with ongoing bupe treatment. [addictionsurvivors.org]

Furthermore, treatment conditions were randomly assigned to one of three different treatment goals, so that ultimately he received six sessions of treatment for each treatment goal remediated with a different treatment approach. [tandfonline.com]

(See Prognosis, Clinical, and Workup.) Patient education For patient education information, see the Lung Disease and Respiratory Health Center, as well as Croup. [emedicine.medscape.com]

Ferro JM 隐源性短暂性脑缺血发作和缺血性卒中的发生率，结局，危险因素和长期预后：一项以人群为基础的研究 Incidence, outcome, risk factors, and long-term prognosis of cryptogenic transient ischaemic attack and ischaemic stroke: a population-based study. [paper.medlive.cn]

Febrile Seizures: treatment and prognosis. Epilepsia 2000; 41:2-9. Dreifuss FE, Rosman NP, Cloyd JC, dkk. A Comparison of rectal diazepam gel and placebo for acute repetitive seizures. N Engl J Med 1998 ; 338:1869-75. [saripediatri.org]

Croup is the most common etiology for hoarseness, cough, and onset of acute stridor in febrile children. Symptoms of coryza may be absent, mild, or marked. [emedicine.medscape.com]

Takes approximately 5 minutes Target Population: Adolescents and adults with intellectual or developmental disabilities (including autism, Down syndrome, fragile X syndrome, and intellectual disability of unknown etiology). [disabilitymeasures.org]

Xinyu Zhao, PhD studies neurodevelopmental disorders that are highly heterogeneous constellation of disorders, both in terms of etiology and clinical manifestations.Using neural stem cells as model systems, Zhao investigates the molecular mechanisms that [waisman.wisc.edu]

A cause has not been elucidated, but a dominant mutation is postulated as the most likely etiologic possibility. To access this article, please choose from the options below [jpeds.com]

Abstract Advances in understanding the etiology of Parkinson disease have been driven by the identification of causative mutations in families. [research-repository.griffith.edu.au]

Durkin, PhD Wisconsin SEED Wisconsin Surveillance of Autism and Other Developmental Disabilities Research Topics: Autism, Epidemiology Susan Ellis Weismer, PhD Language Processes Lab Research Topics: Autism, Speech & Language Development Peter A. [waisman.wisc.edu]

SNPs for GABRQ No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for GABRQ Gene Relevant External Links for GABRQ Genetic Association Database (GAD) GABRQ Human Genome Epidemiology [genecards.org]

[…] heterozygous loss-of-function mutation in the LEMD3 (LEM domain containing 3) gene (locus 12q14.3) for an inner nuclear membrane protein has been identified in patients with osteopoikilosis with or without Buschke-Ollendorff syndrome. [5, 11, 12, 13, 14] Epidemiology [emedicine.medscape.com]

A literature review of the epidemiology and treatment of acute gout. Clin Ther. 2003 Jun. 25(6):1593-617. [Medline]. Terkeltaub RA. Gout: Recent advances and emerging therapies. [medscape.com]

Clinical, epidemiological and therapeutic profile of patients with brachioradial pruritus in a reference service in dermatology. An Bras Dermatol, 2016, 91(4):549-551. [2] Mirzoyev SA, Davis MD. [derm.dxy.cn]

[…] supporting the solar hypothesis Many patients with brachioradial pruritus have a history of chronic sun exposure. [2, 14, 15] Kestenbaum and Kalivas [16] postulated that histamine release from mast cells in response to chronic sun exposure might play a pathophysiologic [emedicine.medscape.com]

Posterior reversible encephalopathy syndrome: clinical and radiological manifestations, pathophysiology, and outstanding questions. Fugate JE,Rabinstein AA [评论]不明原因缺血性卒中 Ischaemic stroke of undetermined cause. [paper.medlive.cn]

These mechanisms of increased vascular permeability are involved in the pathophysiology of hypotension and pulmonary dysfunction in ARDS. [corona24.news]

Traditional power supply cords have become less important because they prevent large-scale utilization and mobility. [semanticscholar.org]

The project is funded by the Centers for Disease Control and Prevention (CDC) and housed at the University of Wisconsin-Madison, School of Medicine and Public Health. [nofas.org]

Exploring the range of disabilities, the Waisman Center community has helped gather new knowledge on the basic biology, developmental course, prevention, treatment and social context of a highly complex set of human conditions. [wisconsintechnologycouncil.com]