See also [ edit ] Severe combined immunodeficiency , for a detailed overview of the condition in humans and an in-depth scientific explanation of the disease Foal immunodeficiency syndrome Animal testing on rodents References [ edit ] ^ "SCID in Arabian Horses" ^ Parkinson, Mary Jane.
It is generally a benign, self-limited disorder, however, it can be complicated by deep vein thrombosis (DVT) and even pulmonary embolism (PE) [4] Migratory superficial thrombophlebitis is known as Trousseau's syndrome . [5] Contents 1 Signs and symptoms 1.1 Complications 2 Risk factors 3 Diagnosis 4 Treatment 5 Epidemiology 6 See also 7 References Signs and symptoms [ edit ] Findings of tenderness, induration, pain and/or erythema along the course of a superficial vein usually establish a clinical diagnosis, especially in patients with known risk factors.
Other occupational hazards potentially related to cardiovascular disease include noise exposure at work , shift work , and physical activity at work. [2] Contents 1 Non-chemical risk factors 2 Chemical risk factors 3 Occupations at higher risk 3.1 Occupational cardiovascular disease in firefighters 3.1.1 CVD risk factors in firefighting 4 See also 5 References Non-chemical risk factors [ edit ] A 2015 SBU-report including a systematic review of non-chemical risk factors for occupation cardiovascular disease found an association between certain occupational risk factors and developing cardiovascular disease in those: [3] Psychosocial stress [4] Frequent stimulation of the sympathetic nervous system [5] With mentally stressful work with a lack of control of their own working situation — with an effort-reward imbalance [3] Who experience low social support at work; who experience injustice or experience insufficient opportunities for personal development; or those who experience job insecurity [3] Those who work night schedules; or have long working weeks [3] Those who are exposed to noise [3] [6] Specifically the risk of stroke was also increased by exposure to ionizing radiation [3] Sleep disorders, such as OSA , SWSD , restless leg syndrome , and insomnia [7] Hypertension develops more often in those who experience job strain and who have shift-work. [3] Differences between women and men in risk are small, however men risk suffering and dying of heart attacks or stroke twice as often as women during working life. [3] Chemical risk factors [ edit ] A 2017 SBU report found evidence that workplace exposure to silica dust , engine exhaust or welding fumes is associated with heart disease . [8] Associations also exist for exposure to arsenic , benzopyrenes , lead , dynamite , carbon disulphide , carbon monoxide , metalworking fluids and occupational exposure to tobacco smoke . [8] Working with the electrolytic production of aluminum or the production of paper when the sulphate pulping process is used is associated with heart disease. [8] An association was also found between heart disease and exposure to compounds which are no longer permitted in certain work environments, such as phenoxy acids containing TCDD (dioxin) or asbestos . [8] Workplace exposure to silica dust or asbestos is also associated with pulmonary heart disease .
External links [ edit ] Classification D ICD - 10 : F80 ICD - 9-CM : 315.3 MeSH : D007806 v t e Dyslexia and related specific developmental disorders Conditions Speech, language , and communication Expressive language disorder Infantile speech Landau–Kleffner syndrome Language disorder Lisp Mixed receptive-expressive language disorder Specific language impairment Speech and language impairment Speech disorder Speech error Speech sound disorder Stuttering Tip of the tongue Learning disability Dyslexia Dyscalculia Dysgraphia Disorder of written expression Motor Developmental coordination disorder Developmental verbal dyspraxia Sensory Auditory processing disorder Sensory processing disorder Related topics Dyslexia research Irlen filters Learning Ally Learning problems in childhood cancer Literacy Management of dyslexia Multisensory integration Neuropsychology Reading acquisition Spelling Writing system Lists Dyslexia in fiction Languages by Writing System People with dyslexia
Myotonia fluctuans (MF) is a form of potassium-aggravated myotonia (PAM, see this term) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion. Epidemiology Prevalence is unknown. Clinical description Fluctuating myotonia develops during childhood or adolescence and involves the extraocular, bulbar and limb muscles. Eyelid myotonia is often the first sign of the disease. Episodes of stiffness vary in severity and frequency and may be separated by prolonged periods of normality. Myotonia is aggravated by potassium ingestion and appears with a delayed onset (10-30 min) after exercise (exercise-induced delayed-onset myotonia). Cold has no effect on myotonia. Paralysis is never observed. Episodic weakness is rare.
They pointed out that several neurologic disorders map to the same region: Ochoa syndrome (236730), infantile-onset spinocerebellar ataxia (271245), also called spinocerebellar atrophy-8, and progressive external ophthalmoplegia (PEO; 157640), a condition that appears to involve 'cross-talk' between the nuclear and mitochondrial DNA.
A rare complex hereditary spastic paraplegia characterized by juvenile to adult onset of slowly progressive spasticity mainly affecting the lower limbs, associated with spastic dysarthria and motor neuropathy. Additional manifestations include congenital bilateral cataract, gastroesophageal reflux, persistent vomiting, mild cerebellar signs, pes cavus, and occasionally short stature, among others.
They noted that the disease process may resemble the etiology of Alzheimer disease (AD; 104300) in Down syndrome (190685) with overexpression of the APP gene (104760) due to chromosome 21 trisomy.
Guttate psoriasis is a skin condition in which small, red, and scaly teardrop-shaped spots appear on the arms, legs, and middle of the body. It is a relatively uncommon form of psoriasis . The condition often develops very suddenly, and is usually triggered by an infection (e.g., strep throat, bacteria infection, upper respiratory infections or other viral infections). Other triggers include injury to the skin, including cuts, burns, and insect bites, certain malarial and heart medications, stress, sunburn, and excessive alcohol consumption. Treatment depends on the severity of the symptoms, ranging from at-home over the counter remedies to medicines that suppress the body's immune system to sunlight and phototherapy.
(hopkinsmedicine.org) v t e Breast cancer Types Ductal Ductal carcinoma in situ (DCIS) : Paget's disease of the breast Comedocarcinoma Invasive ductal carcinoma (IDC) Intraductal papilloma Lobular Lobular carcinoma in situ (LCIS) Invasive lobular carcinoma (ILC) Fibroepithelial / stromal Fibroadenoma Phyllodes tumor Other Medullary carcinoma Male breast cancer Inflammatory breast cancer Precursor lesions Atypical ductal hyperplasia Nipple adenoma General Breast cancer Classification Risk factors Alcohol Hereditary breast—ovarian cancer syndrome BRCA mutation Screening Treatment Other Breast cancer awareness Pink ribbon National Breast Cancer Awareness Month List of people with breast cancer
Malignant peritoneal mesothelioma is a primary peritoneal malignancy occurring in the lining cells (mesothelium) of the peritoneal cavity. Epidemiology Peritoneal mesothelioma accounts for 10 to 30% of all malignant mesotheliomas. The annual incidence is approximately 1/500,000 in France but reaches 1/200,000 in some parts of Europe (Italy). Men are predominantly affected. Clinical description The tumors are usually diagnosed in late adulthood (median age: 55 years). Typical presenting features are abdominal distention, abdominal pain, presence of an abdominal mass, impaired general state, weight loss, and ascites.
A contiguous gene deletion involving CYP21A2 and TNX led to a combination of Ehler-Danlos syndrome, hypermobility type and 21-OHD CAH [Burch et al 1997, Schalkwijk et al 2001]. Nomenclature Terms used in the past for 21-OHD CAH include adrenogenital syndrome (AG syndrome) and congenital adrenocortical hyperplasia. ... The phenotypic spectrum of cytochrome P450 oxidoreductase deficiency ranges from isolated steroid abnormalities to classic Antley-Bixler syndrome (ABS). Individuals with POR deficiency have cortisol deficiency, ranging from clinically insignificant to life threatening. ... Glucocorticoid therapy for children involves balancing suppression of adrenal androgen secretion against iatrogenic Cushing's syndrome in order to maintain a normal linear growth rate and normal bone maturation.
This can result in vision loss. Metabolic syndrome. This syndrome is a group of disorders of the body's metabolism. It involves the irregular breakdown of sugar, also called glucose. The syndrome includes increased waist size, high triglycerides, decreased high-density lipoprotein (HDL or "good") cholesterol, high blood pressure and high blood sugar levels.
Alcohol is the most significant health concern in Native American communities because of very high rates of alcohol dependence and abuse; up to 80 percent of suicides and 60 percent of violent acts are a result of alcohol abuse in Native American communities . [21] [ failed verification ] In the United States alcohol-related violence is related to more severe injuries and chronic cases. [22] [ citation needed ] Pregnancy [ edit ] A label on alcoholic drinks promoting zero alcohol during pregnancy Alcohol abuse among pregnant women causes their baby to develop fetal alcohol syndrome . Fetal alcohol syndrome is the pattern of physical abnormalities and the impairment of mental development which is seen with increasing frequency among children with alcoholic mothers. [23] Alcohol exposure in a developing fetus can result in slowed development of the fetal brain, resulting in severe retardation or death. ... PMID 7149705 . ^ Vorvick, Linda (August 15, 2011). "Fetal alcohol syndrome" . PubMed Health . Archived from the original on 20 September 2012 . ... Sulfonic acids : Acamprosate Religion and alcohol Christian views on alcohol alcohol in the Bible Islam and alcohol History Bratt System Related Index of alcohol-related articles Austrian syndrome Ban on caffeinated alcoholic beverages Brief intervention Gateway drug effect Last call Mood disorder Non-alcoholic fatty liver disease Self-medication Spins Sober companion Sober living houses Sobering center Town drunk Category v t e Psychoactive substance-related disorder General SID Substance intoxication / Drug overdose Substance-induced psychosis Withdrawal : Craving Neonatal withdrawal Post-acute-withdrawal syndrome (PAWS) SUD Substance abuse / Substance-related disorders Physical dependence / Psychological dependence / Substance dependence Combined substance use SUD Polysubstance dependence SID Combined drug intoxication (CDI) Alcohol SID Cardiovascular diseases Alcoholic cardiomyopathy Alcohol flush reaction (AFR) Gastrointestinal diseases Alcoholic liver disease (ALD): Alcoholic hepatitis Auto-brewery syndrome (ABS) Endocrine diseases Alcoholic ketoacidosis (AKA) Nervous system diseases Alcohol-related dementia (ARD) Alcohol intoxication Hangover Neurological disorders Alcoholic hallucinosis Alcoholic polyneuropathy Alcohol-related brain damage Alcohol withdrawal syndrome (AWS): Alcoholic hallucinosis Delirium tremens (DTs) Fetal alcohol spectrum disorder (FASD) Fetal alcohol syndrome (FAS) Korsakoff syndrome Positional alcohol nystagmus (PAN) Wernicke–Korsakoff syndrome (WKS, Korsakoff psychosis) Wernicke encephalopathy (WE) Respiratory tract diseases Alcohol-induced respiratory reactions Alcoholic lung disease SUD Alcoholism (alcohol use disorder (AUD)) Binge drinking Caffeine SID Caffeine-induced anxiety disorder Caffeine-induced sleep disorder Caffeinism SUD Caffeine dependence Cannabis SID Cannabis arteritis Cannabinoid hyperemesis syndrome (CHS) SUD Amotivational syndrome Cannabis use disorder (CUD) Synthetic cannabinoid use disorder Cocaine SID Cocaine intoxication Prenatal cocaine exposure (PCE) SUD Cocaine dependence Hallucinogen SID Acute intoxication from hallucinogens (bad trip) Hallucinogen persisting perception disorder (HPPD) Nicotine SID Nicotine poisoning Nicotine withdrawal SUD Nicotine dependence Opioids SID Opioid overdose SUD Opioid use disorder (OUD) Sedative / hypnotic SID Kindling (sedative–hypnotic withdrawal) benzodiazepine : SID Benzodiazepine overdose Benzodiazepine withdrawal SUD Benzodiazepine use disorder (BUD) Benzodiazepine dependence barbiturate : SID Barbiturate overdose SUD Barbiturate dependence Stimulants SID Stimulant psychosis amphetamine : SUD Amphetamine dependence Volatile solvent SID Sudden sniffing death syndrome (SSDS) Toluene toxicity SUD Inhalant abuse
The mutations in these 6 collagens caused a wide spectrum of diseases of bone, cartilage, and blood vessels, including osteogenesis imperfecta, a variety of chondrodysplasias, types IV (130050) and VII (130060) Ehlers-Danlos syndrome, and, rarely, some forms of osteoporosis, osteoarthritis, and familiar aneurysms. ... Chamberlain et al. (2004) used adeno-associated virus vectors to disrupt dominant-negative mutant COL1A1 collagen genes in mesenchymal stem cells, also known as marrow stromal cells, from individuals with severe OI, demonstrating successful gene targeting in adult human stem cells. Ehlers-Danlos Syndromes In 2 unrelated patients with classic EDS (EDSCL1; 130000), Nuytinck et al. (2000) identified an arg134-to-cys mutation (120150.0059) in the COL1A1 gene. Cabral et al. (2005) identified 7 children with the combination of skeletal fragility and characteristics of Ehlers-Danlos syndrome. In each child they identified a mutation in the first 90 residues of the helical region of alpha-1(I) collagen.
Revertant cells have also been identified in patients with Fanconi anemia (see 227650 and 227645), Bloom syndrome (210900), Wiskott-Aldrich syndrome (277970), and epidermolysis bullosa (226650) due to mutations in the COL17A1 gene (113811). In addition to back mutation, allele function has been restored by mitotic recombination or gene conversion, which can eliminate the original mutation, and by 'second-site' events that restore reading frame or led to an amino acid substitution better tolerated than the original. In Bloom syndrome, intragenic recombination or gene conversion are the usual mechanisms, consistent with reversion being much more common in heteroallelic than in homoallelic patients (Ellis et al., 1995).
Adenosine deaminase deficiency (ADA deficiency) is an inherited condition that damages the immune system and is a common cause of severe combined immunodeficiency (SCID) . People with SCID due to ADA deficiency are unable to fight off most types of infections, including bacterial, viral and fungal infections. Most people with ADA deficiency develop symptoms before 6 months of age. The earliest symptoms of ADA deficiency include pneumonia, chronic diarrhea, widespread skin rashes, slowed growth, and/or developmental delay. Some people with ADA deficiency will develop symptoms later in life. The symptoms in the late-onset form are typically milder than in the form that occurs in infancy.
Increased levels of insulin in a fetus's blood may inhibit fetal surfactant production and cause infant respiratory distress syndrome . A high blood bilirubin level may result from red blood cell destruction . ... The following is a list of disorders that may increase the risk of diabetes: [67] Genetic defects of β-cell function Maturity onset diabetes of the young Mitochondrial DNA mutations Genetic defects in insulin processing or insulin action Defects in proinsulin conversion Insulin gene mutations Insulin receptor mutations Exocrine pancreatic defects Chronic pancreatitis Pancreatectomy Pancreatic neoplasia Cystic fibrosis Hemochromatosis Fibrocalculous pancreatopathy Endocrinopathies Growth hormone excess ( acromegaly ) Cushing syndrome Hyperthyroidism Hypothyroidism Pheochromocytoma Glucagonoma Infections Cytomegalovirus infection Coxsackievirus B Drugs Glucocorticoids Thyroid hormone β-adrenergic agonists Statins [68] New-onset diabetes has been observed in patients with Covid-19. [69] Pathophysiology [ edit ] The fluctuation of blood sugar (red) and the sugar-lowering hormone insulin (blue) in humans during the course of a day with three meals. ... These include smoking , high blood pressure , metabolic syndrome obesity , and lack of regular exercise . [91] Specialized footwear is widely used to reduce the risk of ulcers in at-risk diabetic feet although evidence for the efficacy of this remains equivocal. [92] Lifestyle [ edit ] See also: Diabetic diet People with diabetes can benefit from education about the disease and treatment, dietary changes, and exercise, with the goal of keeping both short-term and long-term blood glucose levels within acceptable bounds .