Presentation
We present a case of juvenile onset NIID with a predominantly Parkinsonian presentation, followed later by corticospinal, cerebellar, and lower motor neuron symptoms. [ncbi.nlm.nih.gov]
Conclusions : Here, we present a unique case of NIID first presenting with an ET phenotype. The ET phenotype has not been previously described in NIID. [mdsabstracts.org]
Entire Body System
- Anemia
A CELLULE FALCIFORMI BLACKFAN-DIAMOND, ANEMIA DI ANEMIA CONGENITA IPOPLASTICA FANCONI, ANEMIA DI PANCITOPENIA DI FANCONI ANEMIE SIDEROBLASTICHE METAEMOGLOBINEMIA DA DEFICIT DI METAEMOGLOBINAREDUTTASI METAEMOGLOBINEMIA CONGENITA EREDITARIA RD0010 SINDROME [retemalattierare.it]
Cabot Rings - ring-like structure and may appear in erythrocytes in megaloblastic anemia or in severe anemias, lead poisoning, and in dyserythropoiesis, in which erythrocytes are destroyed before being released from the bone marrow. [en.wikipedia.org]
CONGENITA IPOPLASTICA SINONIMI ORTICARIA CRONICA CON MACROGLOBULINEMIA BLACKFAN-DIAMOND, ANEMIA DI ESEMPI DI MALATTIE AFFERENTI AL GRUPPO SINONIMI EDEMA ANGIONEUROTICO EREDITARIO FANCONI, ANEMIA DI ANEMIA A CELLULE FALCIFORMI TALASSEMIE (ESCLUSO: TALASSEMIE [dochero.tips]
A CELLULE FALCIFORMI BLACKFAN-DIAMOND, ANEMIA DI ANEMIA CONGENITA IPOPLASTICA FANCONI, ANEMIA DI PANCITOPENIA DI FANCONI ANEMIE SIDEROBLASTICHE METAEMOGLOBINEMIA DA DEFICIT DI METAEMOGLOBINAREDUTTASI RD0010 RD0020 RDG020 SINDROME EMOLITICO UREMICA EMOGLOBINURIA [happyslide.net]
Gastrointestinal
- Abdominal Pain
Research output : Contribution to journal › Article Administering analgesia sublingually is a suitable option for children with acute abdominal pain in the emergency department Cozzi, G., Zanchi, C., Chiaretti, A., Tipo, V., Cernich, M., D'Anna, C., Fantacci [moh-it.pure.elsevier.com]
Cardiovascular
- Hypertension
Case Presentation A 73-year-old Japanese woman with a history of hypertension and hyperlipidemia was referred to our hospital because of bilateral hand tremor. The tremor appeared bilaterally from the onset. [karger.com]
Methods of treatment with DLL4 antagonists and an anti-hypertensive agent WO2011049625A1 (fr) 2009-10-20 2011-04-28 Mansour Samadpour Procédé de criblage d'aflatoxine dans des produits EP2490718B1 (fr) 2009-10-22 2016-01-13 F.Hoffmann-La Roche Ag Procédés [patents.google.com]
Workup
Other Pathologies
- Intranuclear Inclusion Bodies
To identify the SUMO-1-associated proteins in the inclusion bodies, we isolated intranuclear inclusion bodies from fresh, frozen brain tissue of a case with familial neuronal intranuclear inclusion disease and solubilized the proteins. [ncbi.nlm.nih.gov]
See Also Inclusion Bodies, Viral Other names Nuclear Inclusion Body; Nuclear Inclusion; Intranuclear Inclusion Body; Intranuclear Inclusion; Inclusions, Nuclear; Inclusions, Intranuclear; Inclusion, Nuclear; Inclusion, Intranuclear; Inclusion Body, Nuclear [reference.md]
[…] neurodegenerative disorder with eosinophilic intranuclear inclusion bodies. [pubfacts.com]
[Neuronal Intranuclear Inclusion Disease]. [unboundmedicine.com]
Treatment
He responded well to levodopa but developed motor fluctuations and disabling dyskinesias after 3 years of treatment. [ncbi.nlm.nih.gov]
1) establish the neuroanatomical and cognitive framework underlying disorders of cognition, (2) provide fundamental as well as cutting-edge material covering specific diseases associated with dementia, and (3) discuss approaches to the diagnosis and treatment [books.google.com]
However, specific genes known to cause NIID have not yet been found. [1] Currently there is no treatment that cures or slows the progression of NIID, but medications that help control symptoms may improve quality of life. [3] While the disease is ultimately [rarediseases.info.nih.gov]
Prognosis
Treatment and prognosis Neuronal intranuclear hyaline inclusion disease (NIHID) is slowly progressive and has no proven therapy. Death usually occurs before the age of 30 years 3. [radiopaedia.org]
Neuronal intranuclear inclusion disease (NIID) is a progressive disease (worsens over time) and long term prognosis is poor. Still, the course of NIID may vary from person to person. [rarediseases.info.nih.gov]
Pick disease occurs in a younger age group than dementia of the Alzheimer type, with peak incidence occurring in individuals aged 55-65 years. [12, 13] Prognosis Like most dementias, Pick disease is slowly progressive, leading to increased vocational [emedicine.medscape.com]
Inhibiteurs puissants et selectifs de nav1.3 et nav1.7 US10184942B2 (en) 2011-03-17 2019-01-22 University Of South Florida Natriuretic peptide receptor as a biomarker for diagnosis and prognosis of cancer US9181308B2 (en) 2011-03-28 2015-11-10 St. [patents.google.com]
Etiology
Repository NIGMS Human Genetic Cell Repository Subcollection Heritable Diseases Class Disorders of Uncertain Biochemical Etiology Alternate IDs GM18073 [NEURONAL INTRANUCLEAR INCLUSION DISEASE] Biopsy Source Peripheral vein Cell Type B-Lymphocyte Tissue [catalog.coriell.org]
Epidemiology
Dynamic, molecular and epidemiological neuropathology. Profile Our group plays an important role interfacing the clinical and basic research in the Tokyo Metropolitan Geriatric Hospital and Institute of Gerontology (TMGHIG). [tmig.or.jp]
Epidemiology Occurrence in the United States Frontotemporal dementias as a group are the fourth most common cause of dementia. [emedicine.medscape.com]
Pathophysiology
Get a quick and memorable overview of anatomy, pathophysiology, and clinical presentation from the precision and beauty of Netter and Netter-style plates that highlight key neuroanatomical and neurologic concepts. [books.google.com]
The pathophysiology of PD has not been fully elucidated, but it has been hypothesized that the pacemaker of resting tremor exists in the basal ganglia-thalamocortical circuits [ 7, 8 ]. [karger.com]
Pathophysiology of chaperone-mediated autophagy. Int. J. Biochem. Cell Biol. 36, 2420–2434 (2004). 34 Kiffin, R., Christian, C., Knecht, E. & Cuervo, A. M. Activation of chaperone-mediated autophagy during oxidative stress. Mol. Biol. [nature.com]
Prevention
There have not effective medication and prevention for NIID. Patient 1 and 2 received symptomatic treatment. Up until now, the patients are alive but the disease is progressing. [ncbi.nlm.nih.gov]
This aspect of toxicity is important because it will shape how we develop therapeutics to alleviate or prevent these disorders. [depts.washington.edu]
Mast cell stabilizers to prevent or treat laminitis WO2006013552A2 (fr) 2004-08-02 2006-02-09 Ramot At Tel Aviv University Ltd. [patents.google.com]
Nakamura Y, Nakajima H, Unoda K, Kimura F, Arawaka S: Cilostazol prevents pneumonia in acute cerebral infarction. [osaka-med.ac.jp]