Presentation
Present Absent Intact cortical rim Absent Present Present Present Dilated third ventricle Absent Present only in obstructive forms Absent Absent Angiographic investigation Bilateral internal carotid artery occlusion (not always) Normal Normal Involvement [ijponline.biomedcentral.com]
Predominant leg weakness is not unique to ACA infarction; it is also present with MCA-territory cortical infarction. It can also be present with capsular and pontine infarcts. [clinicalgate.com]
Even with a severe initial presentation, partial or complete recovery is possible, underlying the importance of early recognition. Antithrombotic treatment must be administered at diagnosis as soon as possible. [karger.com]
However, finding the disease causing mutation in the more than 7 million DNA bases within this region has presented an enormous challenge. [news-medical.net]
Neonatal, Agranulocytosis, Air Embolism, Akathisia, Akinesia, Alanine Aminotransferase Abnormal, Alanine Aminotransferase Decreased, Alanine Aminotransferase Increased, Albumin Globulin Ratio Decreased, Albumin Globulin Ratio Increased, Albumin Urine Present [bonkersinstitute.org]
Entire Body System
- Weakness
Calcinosis Abnormal bleeding Decreased liver function Progressive muscle weakness Hemangioma Nephrocalcinosis Accelerated skeletal maturation EMG abnormality Nephrolithiasis Generalized muscle weakness Waddling gait Arachnodactyly Myopathy Long face [mendelian.co]
Lesions of the internal capsule or brainstem cause proportional leg weakness. [neupsykey.com]
Sometimes there are episodes of transient cerebral ischemia, accompanied by dysphasia (impairment of the understanding or reproduction of speech) or hemiparesis (muscle weakness, half of the body) with a duration of 10-15 minutes, followed by regression [minclinic.ru]
[…] impaired ability to coordinate movement ataxia slowing down the initiation or execution of movement bradykinesia double vision diplopia difficult, poorly articulated speech that results from interference in control of the muscles of speech dysarthria weak [studystack.com]
However, this approach suffers from a number of inherent weaknesses, the most important of which is that the homogenized data derived from an aggregate of patients may not be applicable to a specific case at hand. [mhmedical.com]
- Fever
[…] erythema marginatum, chorea Minor Criteria: fever, elevated WBC/ESR/CRP, arthralgia, prolonged PR, previous rheumatic fever or rheumatic heart disease scarlet fever punctate, erythematous, blanch able, sandpaper-like exanthem @ neck, groin, axillae, body [ccfpprep.com]
Chills with fever Fever NOS Fever of unknown origin (FUO) Hyperpyrexia NOS Pyrexia NOS Pyrexia of unknown origin Code first underlying condition when associated fever is present, such as with: leukemia (codes from categories 204, 205, 206, 207, 208) [theodora.com]
Nasal speech Impaired pain sensation Sacral dimple Abnormality of vision Hoarse voice Sensorimotor neuropathy Paraparesis Knee flexion contracture Spastic paraparesis Abnormality of dental enamel Opacification of the corneal stroma Thin ribs Episodic fever [mendelian.co]
[…] thrombocytopenia 28.0 P * 853 Fetal and neonatal alloimmune thrombocytopenia 112.5 BP * 294 Fetal cytomegalovirus syndrome 40.0 P * 85212 Fetal Gaucher disease 50 Cases 1917 Fetal methylmercury syndrome 800 Cases 291 Fetal varicella syndrome 100 Cases 464724 Fever-associated [azkurs.org]
[…] slower signs and symptoms of encephalitis headache, fever, stiff neck, nausea and vomiting, irritability, photophobia most common and deadly cause of encephalitis herpes simplex virus characterized by widespread inflammation and demyelination of of the [studystack.com]
- Inflammation
[…] slower signs and symptoms of encephalitis headache, fever, stiff neck, nausea and vomiting, irritability, photophobia most common and deadly cause of encephalitis herpes simplex virus characterized by widespread inflammation and demyelination of of the [studystack.com]
with optic nerve infection Optic nerve inflammation - without optic nerve infection Optic nerve ischemic injury - giant cell (temporal/cranial) arteritis Optic nerve tumors - glioma Optic nerve tumors - melanocytoma (magnocellular nevus) Optic nerve [eyewiki.org]
The spectroscopic analysis of the signal alterations suspected of inflammation showed normal Cholin+ Creatin/Citrate SI ratio values in 3 patients (SI < 0.5), ratios suspected of low grade cancer in 3 patients (SI 0.5 and < 0.7) and ratios suspected of [worldwidescience.org]
Ref.7 peptidase C14ABrain inflammation Cerebral ischemia Diabetic retinopathy Inflammation Thiol protease that cleaves il-1 beta between an asp and an ala, releasing the mature cytokine which is involved in a variety of inflammatory processes. [molsoft.com]
Upper Airway Secretion, Indifference, Induced Labour, Induration, Infantile Apnoeic Attack, Infarction, Infected Skin Ulcer, Infection, Infection In an Immunocompromised Host, Infection Parasitic, Inferiority Complex, Infertility, Infertility Male, Inflammation [bonkersinstitute.org]
- Gaucher Disease
Gaucher Disease October 15, 2018 by Peter Ciszewski Gaucher disease (GD) is a genetic disorder in which glucocerebroside (a sphingolipid, also known as glucosylceramide) accumulates in cells and certain organs. [checkrare.com]
[…] retinal hemorrhage syndrome 3 Cases 1915 Fetal alcohol syndrome 1.6 BP * 853 Fetal and neonatal alloimmune thrombocytopenia 28.0 P * 853 Fetal and neonatal alloimmune thrombocytopenia 112.5 BP * 294 Fetal cytomegalovirus syndrome 40.0 P * 85212 Fetal Gaucher [azkurs.org]
Files ) Disease name: Fucosidosis (OMIM 230000) ICD 10: E77.1 Synonyms: Alpha-L-Fucosidase Deficiency Gaucher disease ( 1 Files ) Disease name: Gaucher disease ICD 10: E75.2 Synonyms : sphingolipidosis (lysosomal storage disorder, deficiency of glucocerebrosidase [orphananesthesia.eu]
disease, perinatal lethal 608013 GBA glucosidase, beta, acid Enf-372 Gaucher disease, type I 230800 GBA glucosidase, beta, acid Enf-373 Gaucher disease, type II 230900 GBA glucosidase, beta, acid Enf-374 Gaucher disease, type III 231000 GBA glucosidase [ac-gen.com]
(multiple sulfatase deficiency), 645 cholesterol ester storage disease, 645 Gaucher disease, 640–641, 643 leukodystrophy, metachromatic, 644 mucolipidosis II (I-cell disease), 328, 639–641 mucopolysaccharidoses, 635–639 neuronal ceroid lipofuscinosis [assets.cambridge.org]
- Death in Infancy
Death often occurs in childhood (summary by Walne et al., 2013 ).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 ( OMIM ). [mendelian.co]
They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. [molsoft.com]
Respiratoric
- Pneumonia
Pneumonia Aspiration, Pneumonia Klebsiella, Pneumonia Mycoplasmal, Pneumonia Pneumococcal, Pneumonia Primary Atypical, Pneumonia Staphylococcal, Pneumonia Streptococcal, Pneumonitis, Pneumothorax, Po2 Decreased, Po2 Increased, Poikilocytosis, Poisoning [bonkersinstitute.org]
Mechanism: inhibits enzyme that cleave inactive viral polyprotein precursors into active functional protein s/e: N/V/D, anorexia, abd pain, altered taste CD4>500 and undetectable viral count on daily trimethoprim-sulfamethoxazole to prevent pneumocystic pneumonia [ccfpprep.com]
160 chorioamnionitis acute effects of, 602–603 opaque membranes in, 167 stage three, 167 bacterial pathogens associated with, 602 causes of, 169 effects of, 25, 165, 167–168 grading, 169 streptococcal endocarditis in newborn from, 603 intrauterine pneumonia [assets.cambridge.org]
Expressed in a variety of lymphoid and non-lymphoid cell lines.protein kinaseProtein-tyrosine kinase 2 deficiency (TYK2 deficiency) [MIM:611521]: Consists of a primary immunodeficiency characterized by recurrent skin abscesses, pneumonia, and highly elevated [molsoft.com]
Musculoskeletal
- Osteoporosis
The phenotype is highly variable, and affected individuals may have multiple additional features, including pulmonary fibrosis, liver cirrhosis, premature hair loss and/or graying, osteoporosis, atresia of the lacrimal ducts, and learning difficulties [mendelian.co]
[…] risk factors: Tx if high risk despite BMD or moderate risk + additional risk factors Without osteoporosis risk factors: < -2.5 (moderate risk) pharmacologic options for the prevention / tx of osteoporosis Bisphosphonate: alendronate Selective estrogen [ccfpprep.com]
Platelets, neurons and osteoclasts express 5-fold to 200-fold higher levels than most other tissues.Diarrhoeaprotein kinaseBreast cancer Cancer, unspecific Osteoporosis and other bone-related diseases Osteoporosis, unspecified Tyrosine-protein kinase [molsoft.com]
[…] neglect syndrone Asomatognosia Hemi-akinesia Hemi-inattention Hemispatial neglect Left-sided neglect Sensory extinction Sensory neglect Visuospatial neglect 781.9 Other symptoms involving nervous and musculoskeletal systems 781.91 Loss of height Excludes: osteoporosis [theodora.com]
166710 COL1A1 collagen, type I, alpha 1 Enf-641 Osteoporosis, postmenopausal 166710 COL1A2 collagen, type I, alpha 2 Enf-642 Osteosarcoma 259500 TP53 tumor protein p53 Enf-643 Otofaciocervical syndrome 166780 EYA1 eyes absent homolog 1 (Drosophila) Enf [ac-gen.com]
- Muscle Spasticity
Atrophy, Muscle Contracture, Muscle Cramp, Muscle Disorder, Muscle Enzyme Increased, Muscle Fatigue, Muscle Hypertrophy, Muscle Injury, Muscle Rigidity, Muscle Spasms, Muscle Spasticity, Muscle Strain, Muscle Twitching, Muscular Weakness, Musculoskeletal [bonkersinstitute.org]
Fetus
- Reduced Fetal Movement
Congenital contractures are common and may be caused by reduced fetal movements at sensitive times of development. [molsoft.com]
Psychiatrical
- Delusion of Grandeur
Delusion of Grandeur, Delusion of Reference, Delusional Disorder (Persecutory Type), Delusional Disorder (Unspecified Type), Delusional Perception, Dementia, Dementia Alzheimer's Type, Demyelinating Polyneuropathy, Demyelination, Dental Caries, Dental [bonkersinstitute.org]
Neurologic
- Areflexia
Accession 1 respiratory insufficiency 32 HP:0002093 2 flexion contracture 32 HP:0001371 3 elevated serum creatine phosphokinase 32 HP:0003236 4 decreased nerve conduction velocity 32 HP:0000762 5 thin ribs 32 HP:0000883 6 polyhydramnios 32 HP:0001561 7 areflexia [malacards.org]
Areflexia MedGen UID: 115943 • Concept ID: C0234146 • Finding A finding indicating the complete absence of neurological reflexes. [ncbi.nlm.nih.gov]
Accelerated skeletal maturation EMG abnormality Nephrolithiasis Generalized muscle weakness Waddling gait Arachnodactyly Myopathy Long face Ophthalmoplegia Lower limb muscle weakness Limb muscle weakness Facial palsy Kyphoscoliosis Mandibular prognathia Areflexia [mendelian.co]
[…] type Congenital nemaline myopathy Constitutional mismatch repair deficiency syndrome Cowden syndrome Cylindrical spirals myopathy DPM3-CDG Dejerine-Sottas syndrome Duchenne and Becker muscular dystrophy Duchenne muscular dystrophy Early-onset myopathy-areflexia-respiratory [se-atlas.de]
24 hours procedure used if stroke is caused by atherosclerosis of the carotid artery carodtid endarterectomy also called cervical shock areflexia flexion/extension injuries of the spine are seen most commonly with this MOI whiplash a flexion/rotation [studystack.com]
- Asthenia
298.9) organic brain syndromes (290.0-294.9, 310.0-310.9) visual hallucinations (368.16) 780.2 Syncope and collapse Blackout Fainting (Near) (Pre)syncope Vasovagal attack Excludes: carotid sinus syncope (337.0) heat syncope (992.1) neurocirculatory asthenia [theodora.com]
Abnormal, Aspartate Aminotransferase Decreased, Aspartate Aminotransferase Increased, Aspartate Aminotransferase Normal, Aspergillosis, Asphyxia, Aspiration, Aspiration Bone Marrow Abnormal, Aspiration Bronchial, Aspiration Tracheal Abnormal, Asterixis, Asthenia [bonkersinstitute.org]
Ref.1 Ref.8 Asthenia Cardiac failure congestive Dry eye Dry mouth Insomnia Orthostatic hypotension Peripheral coldness Priapism Psychotic disorder Raynaud's phenomenonG-protein coupled receptor 1Anxiety disorder, unspecified Brain ischemia Cocaine dependence [molsoft.com]
Workup
TIA should be viewed as a medical emergency that necessitates immediate diagnostic workup and treatment. [clinicalgate.com]
Treatment
Focused on treatment: key points boxes pick out the most important information for the busy specialist. Evidence-based information: extensively referenced with the latest and most important papers and articles. [books.google.com]
To identify such ischemic but not yet infarcted tissue virtually defines the goal of modern acute stroke treatment. [mhmedical.com]
Anticoagulation is the mainstay of acute treatment for CVT, and short or extended anticoagulant therapy is often used for secondary prevention after CVT, but no clinical trials have studied this use. [emedicine.medscape.com]
Given the rarity of these diseases, the treatments outlined in the abstracts are not always evidence based. The information in the abstracts isnot intended to replace existing local, regional or country specific recommendations and guidelines. [orpha.net]
Treatment For the child with HE who survives, there is debate as to whether or not to perform any surgical treatment, considering the severe brain impairment. [ijponline.biomedcentral.com]
Prognosis
PMID: 3344776 Prognosis Guerra MP, Hrachovy RA, Lugli L, Mizrahi EM, Ferrari F Eur J Paediatr Neurol 2007 Sep;11(5):318-21. Epub 2007 Apr 6 doi: 10.1016/j.ejpn.2007.02.004. [ncbi.nlm.nih.gov]
Prognosis Unlike to the unilateral form, the prognosis of HE is usually quite poor. Affected patients mostly die in utero. In the survivors, death usually occurs in the first year of life. [ijponline.biomedcentral.com]
Assigning a stroke a subtype designation implies an inference about mechanism and natural history, both crucial for treatment and prognosis. [clinicalgate.com]
Hall JG: Diagnostic approaches and prognosis in arthrogryposis (congenital contractures). Pathologica 78:701–708, 1986. PubMed Google Scholar 28. Hall JG: Arthrogryposis. Am Fam Physician 39:113–119, 1989. PubMed Google Scholar 29. [link.springer.com]
–336 first appearance, 5–6 see also brain; spinal cord cephalic bud, 21 cephalic index (CI), 13 cephalic pole with cyst, 21 cephaloceles causes of, 108, 361 defined, 107, 361 disorders seen with, 108, 361 incidence of, 107, 361 location of, 108, 361 prognosis [assets.cambridge.org]
Etiology
They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]
Etiology of Ischemic Stroke A. [slideshare.net]
Hall JG: Arthrogryposis multiplex congenita: etiology, genetics, classification, diagnostic approach, and general aspects. J Pediatr Orthop B-6:159–166, 1997. Google Scholar 32. [link.springer.com]
[…] biparietal diameter Brachmann-De Lange syndrome, 231–232, 235 brachycephaly, 363 brachysyndactyly, 288 bradyarrhythmias, 467 bradycardia association with CHD, 129 association with maternal collagen vascular disease, 467 concomitant conditions, 136–137 etiology [assets.cambridge.org]
The etiologic factors that may give rise to a stroke are many. [neupsykey.com]
Epidemiology
Epidemiology Hydranencephaly is a rare neurological condition, but it has been more frequently reported in the literature than the unilateral form, for which only nine cases have been published [ 6 ],[ 7 ]. [ijponline.biomedcentral.com]
[…] clinically defined TIAs are not necessarily transient at the tissue level; there is evidence of tissue infarction on magnetic resonance imaging (MRI) performed early in the course of the syndrome. 2, 3 Indeed, in view of the advances in neuroimaging and epidemiological [clinicalgate.com]
[…] diabetic mother, 39 defined, 32 incidence in U.S., 32–33 by race, 32–36 major complications, 32 placental changes with, 46 risk factors for, 33, 35 premaxilla, protrusion of, 190 prenatal diagnostic screening, sonographic controversial nature of, 90 epidemiological [assets.cambridge.org]
[PUBMED Abstract] Li FP, Fraumeni JF Jr: Rhabdomyosarcoma in children: epidemiologic study and identification of a familial cancer syndrome. J Natl Cancer Inst 43 (6): 1365-73, 1969. [cancerinfo.tri-kobe.org]
Pathophysiology
For detailed information about rare diseases (pathophysiology, treatment options), treatment centres, and patient organisations, visit Orphanet (www.orpha.net) to find information about more than 5.000 rare diseases. [orphananesthesia.eu]
The membrane trafficking impairment process CC may represent a common pathophysiological pathway in the autosomal CC forms of CNM DNM2-CMT neuropathy. CC -!- SIMILARITY: Belongs to the TRAFAC class dynamin-like GTPase CC superfamily. [genome.jp]
Pathophysiology of Ischemic StrokeCEREBRAL AUTOREGULATION• CBF (Cerebral blood flow) determined resistance within cerebral blood vessels• CBF is maintained at constant level despite variations in perfusion pressure.• Smooth muscle contract when CPP increases [slideshare.net]
This article discusses incidence, pathophysiology, imaging, and pain symptomatology involved in the origin of back pain. [worldwidescience.org]
List 3 high-risk features of scaphoid # that require referral to an orthopedic surgeon proximal pole fracture oblique fracture fracture displaced during Tx displaced fracture >1mm 30) Erectile Dysfunction 3 broad pathophysiological categories that may [ccfpprep.com]
Prevention
Because patients who have had an episode of CVT are more likely to experience new systemic venous thromboembolism than recurrent CVT CVT, it may be generally reasonable to prevent both by adopting venous thromboembolism prevention guidelines. [emedicine.medscape.com]
It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. [ncbi.nlm.nih.gov]
[…] acute exacerbations: No, No evidence that abx use prevent exacerbations. [ccfpprep.com]
First, all physicians have a role to play in the prevention of stroke by encouraging the reduction of risk factors, such as hypertension, smoking, and hyperlipidemia and the identification of signs of potential impending stroke, such as transient ischemic [mhmedical.com]
Phosphorylation of ASF1A prevents its proteasome-mediated degradation, thereby enhancing chromatin assembly. [molsoft.com]