High frequency ventilation is thought to reduce ventilator-associated lung injury, especially in the context of ARDS and acute lung injury . [7] Permissive hypercapnia and hypoxaemia allow the patient to be ventilated at less aggressive settings and can, therefore, mitigate all forms of ventilator-associated lung injury Epidemiology [ edit ] VALI is most common in people receiving mechanical ventilation for acute lung injury or acute respiratory distress syndrome (ALI/ARDS). [1] 24 percent of people mechanically ventilated will develop VALI for reasons other than ALI or ARDS. [1] The incidence is probably higher among people who already have ALI/ARDS, but estimates vary widely. [1] The variable estimates reflect the difficulty in distinguishing VALI from progressive ALI/ARDS. [1] References [ edit ] ^ a b c d e f International (1999). ... "Tidal recruitment and overinflation in acute respiratory distress syndrome: yin and yang". Am J Respir Crit Care Med . 175 (2): 104–6. doi : 10.1164/rccm.200610-1564ED .
The DSM-IV-TR notes that Sexual Disorder NOS would apply to, among other conditions, "distress about a pattern of repeated sexual relationships involving a succession of lovers who are experienced by the individual only as things to be used". [11] See also [ edit ] Psychology portal Human sexuality portal Compulsive masturbation Don Juanism Klüver–Bucy syndrome Persistent sexual arousal syndrome Pornography addiction Sexual obsessions References [ edit ] ^ Herron, Abigail J., Brennan, Tim K. eds.
ISBN 978-0-316-15935-7 . v t e Electrolyte imbalances Sodium High Salt poisoning Low Hypotonic Isotonic Cerebral salt-wasting syndrome Potassium High Low Chloride High Low Calcium High Low Symptoms and signs Chvostek sign Trousseau sign Milk-alkali syndrome Disorders of calcium metabolism Calcinosis ( Calciphylaxis , Calcinosis cutis ) Calcification ( Metastatic calcification , Dystrophic calcification ) Familial hypocalciuric hypercalcemia Phosphate High Low Magnesium High Low
"Manic delirium and frontal-like syndrome with paramedian infarction of the right thalamus" . ... PMID 7481408 . ^ a b Arseni, C.; Dănăilă, L. (1977). "Logorrhea Syndrome with Hyperkinesia". European Neurology . 15 (4): 183–7. doi : 10.1159/000114831 .
Osteoarthritis is most common at the base of thumb and is usually treated with pain pills, splinting or steroid injections. [2] Carpal tunnel syndrome is a common disorder of the hand. ... Disorders like diabetes mellitus , thyroid or rheumatoid arthritis can narrow the tunnel and cause impingement of the nerve. Carpal tunnel syndrome also occurs in people who overuse their hand or perform repetitive actions like using a computer key board, a cashiers machine or a musical instrument.
Mutation in the NHS gene also causes Nance-Horan syndrome (302350). Clinical Features Walsh and Wegman (1937) reported possible X-linked cataract in a triracial group of southern Maryland. ... Thus, they may have suffered from a complex syndrome of which cataract was only one feature.
., postural orthostatic tachycardia syndrome is common with this condition, orthostatic hypotension with the BP going both high and low at times due to autonomic dysfunction Type 2 diabetes [1] Vascular adrenergic hypersensitivity: Orthostatic hypertension can be secondary to this [9] Anorexia Nervosa : Many people suffering From anorexia experience orthostatic hypertension [ citation needed ] Hypovolemia can cause orthostatic hypertension Renal arterial stenosis (narrowing of the kidney arteries) with nephroptosis (kidney drops on standing) have been known to cause orthostatic hypertension. [10] Aortitis (inflammation of the aorta) with nephroptosis: "This orthostatic hypertension largely may be due to an activation of the renin system caused by nephroptosis and partly due to a reduced baroreflex sensitivity caused by aortitis" [11] Pheochromocytoma [12] Risks [ edit ] Blood pressure variability is associated with progression of target organ damage and cardiovascular risk. [13] Orthostatic hypertension was positively associated with peripheral arterial disease . [6] Increased occurrence of silent cerebrovascular ischemia [1] [4] Systolic orthostatic hypertension increases stroke risk. [14] Diagnosis [ edit ] The condition can be assessed by a tilt table test . If the test is positive the diagnosis is hyperadrenergic postural orthostatic tachycardia syndrome . Treatments [ edit ] There are no officially recommended treatments currently for orthostatic hypertension as the condition is still little known and can be due to different causes.
Testing may show profound vestibular loss. The syndrome responds to acetazolamide . Familial hemiplegic migraine (FHM) has been linked to mutations in the calcium channel gene. ... Ménière's disease may go on for days or even years, while migraines typically do not last longer than 24 hours. [5] Motion sickness More prevalent in patients with migraine. [5] Psychiatric syndromes Dizziness and spinning vertigo are the second most common symptom of panic attacks , and they can also present as a symptom of major depression .
The greater the posterior displacement, the more significant it is for producing a dysfunctional spinal cord or even a cauda equina syndrome . [ citation needed ] Joint stability [ edit ] Joint stability is easily evaluated by the use of flexion and extension lateral x-ray views of the spine. ... British Volume, Vol 88-B, Issue SUPP_III, 450. v t e Spinal disease Deforming Spinal curvature Kyphosis Lordosis Scoliosis Other Scheuermann's disease Torticollis Spondylopathy inflammatory Spondylitis Ankylosing spondylitis Sacroiliitis Discitis Spondylodiscitis Pott disease non inflammatory Spondylosis Spondylolysis Spondylolisthesis Retrolisthesis Spinal stenosis Facet syndrome Back pain Neck pain Upper back pain Low back pain Coccydynia Sciatica Radiculopathy Intervertebral disc disorder Schmorl's nodes Degenerative disc disease Spinal disc herniation Facet joint arthrosis
The filariasis is transmitted by a vector, specifically the bite of a Culex, Anopheles, or Aedes mosquito, and the microfilariae (larvae) take up residence in the lung tissue, hindering respiration and causing chest pain as the disease progresses. [1] This disease can be confused with tuberculosis , [2] asthma, or coughs related to roundworms . [3] Tropical pulmonary eosinophilia is a rare, but well recognised, syndrome characterised by pulmonary interstitial infiltrates and marked peripheral eosinophilia. [4] This condition is more widely recognised and promptly diagnosed in filariasis-endemic regions, such as the Indian subcontinent, Africa, Asia and South America. In nonendemic countries, patients are commonly thought to have bronchial asthma. [5] [6] Chronic symptoms may delay the diagnosis by up to five years. [5] Early recognition and treatment with the antifilarial drug, diethylcarbamazine, is important, as delay before treatment may lead to progressive interstitial fibrosis and irreversible impairment. [7] The condition of marked eosinophilia with pulmonary involvement was first termed tropical pulmonary eosinophilia in 1950. [8] The syndrome is caused by a distinct hypersensitive immunological reaction to microfilariae of W. bancrofti and Brugia malayi . [7] [9] However, only a small percentage (< 0.5%) [10] of the 130 million people globally who are infected with filariasis apparently develop this reaction.
Diabetic foot Other names Diabetic foot syndrome Neuropathic diabetic foot ulcer Specialty Infectious disease , endocrinology , surgery A diabetic foot is any pathology that results directly from peripheral arterial disease (PAD) and/or sensory neuropathy affecting the feet in diabetes mellitus ; it is a long-term (or "chronic") complication of diabetes mellitus . [1] [2] Presence of several characteristic diabetic foot pathologies such as infection , diabetic foot ulcer and neuropathic osteoarthropathy is called diabetic foot syndrome .
Historical Classification of Pachyonychia Congenita Gorlin et al. (1976) suggested that 2 distinct syndromes are subsumed under the designation pachyonychia congenita. ... Diagnosis Prenatal Diagnosis Using a genomic PCR system, Smith et al. (1999) carried out the first prenatal diagnosis of Jadassohn-Lewandowsky syndrome using CVS material, correctly predicting a normal fetus.
Historically, the two major subtypes of PC were based on subtle variable phenotypic features (primarily on the presence or absence of pilosebaceous cysts and natal or prenatal teeth) [Leachman et al 2005, Liao et al 2007]: PC-1 (Jadassohn-Lewandowski syndrome) PC-2 (Jackson-Lawler syndrome) With detailed clinical histories and pathogenic variants identified in an increasing number of people with PC, it became clear that the older classification of PC-1 and PC-2 was not applicable to the broader population of individuals with PC. ... Note: EBS may be incorrectly diagnosed in young children with PC because they have a greater tendency toward blister formation and lesser tendency toward keratoderma. Clouston syndrome (hidrotic ectodermal dysplasia 2), an autosomal dominant disorder caused by a heterozygous pathogenic variant in GJB6 , the gene encoding the gap junction beta-6 protein, can also mimic PC [Hale et al 2015]. Alopecia does not typically occur in PC, whereas variable alopecia is a relatively common feature of Clouston syndrome. Nonsyndromic congenital nail disorder 10 (OMIM 614157) without the associated palmoplantar keratoderma or other features of PC can be confused with PC. ... Punctate PPK type 1 (OMIM 148600), an autosomal dominant disorder caused by a heterozygous pathogenic variant in AAGAB , can be painful and focal (due to coalescence of lesions) [Pohler et al 2012]. Olmsted syndrome (OMIM 614594) is characterized by painful palmoplantar keratoderma that may occur with additional features including periorificial keratotic plaques and sometimes constricting digital bands on hands and feet that result in spontaneous amputation, mutilating PPK, alopecia, nail dystrophy, and itching of lesions. Olmsted syndrome is caused by a pathogenic variant in TRPV3 [Lin et al 2012; Wilson et al 2015] and normally inherited in an autosomal dominant manner, although recessive inheritance has been reported [Duchatelet et al 2014].
Historical Classification of Pachyonychia Congenita Gorlin et al. (1976) suggested that 2 distinct syndromes are subsumed under the designation pachyonychia congenita.
Differential diagnosis Differential diagnosis includes variants of PC (steatocystoma multiplex, which develops at puberty with little or no nail dystrophy, and focal non-epidermolytic palmoplantar keratoderma; see these terms) and disorders manifesting with dystrophic nails such as epidermolysis bullosa, Clouston syndrome (distinguished by the presence of alopecia), and acquired disorders such as psoriasis and lichen planus (see these terms).
Pachyonychia congenita (PC) is a rare inherited condition that primarily affects the nails and skin. The fingernails and toenails may be thickened and abnormally shaped . Affected people can also develop painful calluses and blisters on the soles of their feet and less frequently on the palms of their hands ( palmoplantar keratoderma ). Additional features include white patches on the tongue and inside of the mouth (leukokeratosis); bumps around the elbows, knees, and waistline (follicular hyperkeratosis); and cysts of various types including steatocystoma. Features may vary among affected people depending on their specific mutation.
For a phenotypic description and a discussion of genetic heterogeneity of pachyonychia congenita, see 167200. Inheritance Chong-Hai and Rajagopalan (1977) suggested autosomal recessive inheritance of pachyonychia congenita in a 4-year-old Malaysian girl with first-cousin parents, although they recognized new dominant mutation as a possibility. See also Sivasundram et al. (1985). INHERITANCE - Autosomal recessive HEAD & NECK Mouth - No oral leukoplakia SKIN, NAILS, & HAIR Skin - Horny papules (face, leg, buttocks) - No palmoplantar hyperkeratosis - No hyperhidrosis Nails - Episodic inflammatory swelling of nail bed - Recurrent shedding of nails - Hard,thickened nails (pachyonychia) - Subungual hyperkeratosis MISCELLANEOUS - See also pachyonychia congenita, type 3 (PC1, 167200 ) ▲ Close
Historical Classification of Pachyonychia Congenita Gorlin et al. (1976) suggested that 2 distinct syndromes are subsumed under the designation pachyonychia congenita.
Historical Classification of Pachyonychia Congenita Gorlin et al. (1976) suggested that 2 distinct syndromes are subsumed under the designation pachyonychia congenita.
After initiation of high-dosage alpha-tocopherol therapy, the organic mental syndrome disappeared and cognitive function improved rapidly. ... Aoki et al. (1990) reported 2 sibs who had an atypical spinocerebellar syndrome with isolated vitamin E deficiency.
Familial isolated vitamin e deficiency Other names Ataxia With Vitamin E Deficiency Familial isolated vitamin e deficiency has an autosomal recessive pattern of inheritance . Specialty Neurology Familial Isolated Vitamin E Deficiency is a rare autosomal recessive neurodegenerative disease . [1] [2] [3] [4] Symptoms are similar to those of Friedreich ataxia . Contents 1 Cause 2 Diagnosis 3 Treatment 4 See also 5 References 6 External links Cause [ edit ] Familial Isolated Vitamin E Deficiency is caused by mutations in the gene for a- tocopherol transfer protein. [5] Diagnosis [ edit ] This section is empty. You can help by adding to it . ( July 2017 ) Treatment [ edit ] This section is empty. You can help by adding to it . ( July 2017 ) See also [ edit ] Vitamin E deficiency TTPA References [ edit ] ^ "Ataxia with vitamin E deficiency" . www.orpha.net .
Ataxia with vitamin E deficiency is a disorder that impairs the body's ability to use vitamin E obtained from the diet. Vitamin E is an antioxidant, which means that it protects cells in the body from the damaging effects of unstable molecules called free radicals. A shortage (deficiency) of vitamin E can lead to neurological problems, such as difficulty coordinating movements (ataxia) and speech (dysarthria), loss of reflexes in the legs (lower limb areflexia), and a loss of sensation in the extremities (peripheral neuropathy). Some people with this condition have developed an eye disorder called retinitis pigmentosa that causes vision loss. Most people who have ataxia with vitamin E deficiency start to experience problems with movement between the ages of 5 and 15 years.
A neurodegenerative disease belonging to the inherited cerebellar ataxias mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E. Epidemiology Global prevalence is not known but population-based studies have been performed and prevalence can be extrapolated at approximately 1/300,000. AVED is the second most frequently inherited cerebellar ataxia in North Africa. As vitamin E deficiency might bring protection against malaria (see this term), it could explain a higher prevalence of AVED in Plasmodium infested areas. Clinical description AVED presents generally between ages 5 and 20 years with variable phenotype and severity.
This is sometimes seen in individuals, especially children, who eat a highly unbalanced diet (e.g., Zen macrobiotic diet), but is most often observed in chronic diseases that impede the resorption of fat-soluble vitamins in the distal ileum (e.g., cholestatic liver disease, short bowel syndrome, cystic fibrosis, Crohn's disease). ... Ataxia-telangiectasia is caused by pathogenic variants in ATM ; inheritance is autosomal recessive. Marinesco-Sjögren syndrome . Findings are cerebellar ataxia, intellectual disability, dysarthria, cataracts, short stature, and hypergonadotropic hypogonadism. Marinesco-Sjögren syndrome is caused by pathogenic variants in SIL1 ; inheritance is autosomal recessive. ... ARCA1 has not been observed outside of Quebec, Canada. Joubert syndrome . Findings are truncal ataxia, developmental delays, episodic hyperpnea or apnea, and atypical eye movements. ... More than twenty genes are associated with Joubert syndrome (pathogenic variants in which appear to account for only about 50% of cases).
Ataxia with vitamin E deficiency (AVED) is a progressive disease affecting motor control and movement. Symptoms of AVED include slurred speech (dysarthria), difficulty coordinating movements ( ataxia ), numbness in the hands and feet (peripheral neuropathy), and progressive leg weakness. Some affected individuals may experience vision loss due to damage to the back of the eye ( retinitis pigmentosa ). Symptoms typically begin during childhood or adolescence and worsen with age, resulting in the need for a wheelchair by early adulthood. AVED is caused by a mutation to the TTPA gene. When this gene is damaged, vitamin E cannot be distributed throughout the body.
In addition, all 3 individuals with the G203S mutation in the TNNI3 gene (191044.0014) exhibited Wolff-Parkinson-White ventricular preexcitation (WPW; 194200); Kimura et al. (1997) noted that although a locus for 'CMH with WPW' had been mapped to chromosome 7q3 (CMH6; 600858), their findings indicated that more than 1 form of CMH is associated with WPW syndrome. Among 31 individuals with late-onset hypertrophic cardiomyopathy and no other family history, Niimura et al. (2002) identified 2 individuals with pathogenic mutations in the TNNI3 gene.
Rodan et al. (2018) concluded that accumulation of folinic acid may act as a toxic metabolite, but also noted that the phenotype, particularly abnormal myelination, was consistent with cerebral folate deficiency syndromes. INHERITANCE - Autosomal recessive GROWTH Height - Short stature HEAD & NECK Head - Microcephaly Eyes - Cortical visual impairment (1 patient) ABDOMEN Gastrointestinal - Poor feeding - Tube feeding NEUROLOGIC Central Nervous System - Global developmental delay - Poor speech - Spasticity - Exaggerated startle response - Seizures - Delayed myelination - Hypomyelination - Enlarged ventricles - Cerebellar atrophy LABORATORY ABNORMALITIES - Low-normal CSF levels of 5-methyl-tetrahydrofolate (5-MTHF) MISCELLANEOUS - Onset at birth or early infancy - Two unrelated patients have been reported (last curated March 2019) MOLECULAR BASIS - Caused by mutation in the 5,10-methenyltetrahydrofolate synthetase gene (MTHFS, 604197.0001 ) ▲ Close
Noting phenotypic overlap with autosomal recessive Robinow syndrome (268310) and familial Mediterranean fever (FMF; 249100), they analyzed the ROR2 (602337) and MEFV (608107) genes, but found no pathologic mutations.
Selcen et al. (2002) concluded that the pathologic process in this syndrome is one that induces destruction of myofibrillar components, resulting in aggregation of the degraded residues in hyaline masses, and causing replication of Z disks and formation of nemaline rods.
Tippmann-Peikert et al. (2007) reported 3 patients with restless legs syndrome (RLS; 102300) who developed pathologic gambling after treatment with dopamine agonists.
urge to continuously gamble despite harmful negative consequences or a desire to stop Problem gambling Other names Ludomania, degenerate gambling, gambling addiction, compulsive gambling, gambling disorder Specialty Psychiatry , clinical psychology Symptoms Spending a lot of money and time in casino/sports betting, Video game addiction [1] Addiction and dependence glossary [2] [3] [4] [5] addiction – a biopsychosocial disorder characterized by persistent use of drugs (including alcohol) despite substantial harm and adverse consequences addictive behavior – a behavior that is both rewarding and reinforcing addictive drug – a drug that is both rewarding and reinforcing dependence – an adaptive state associated with a withdrawal syndrome upon cessation of repeated exposure to a stimulus (e.g., drug intake) drug sensitization or reverse tolerance – the escalating effect of a drug resulting from repeated administration at a given dose drug withdrawal – symptoms that occur upon cessation of repeated drug use physical dependence – dependence that involves persistent physical– somatic withdrawal symptoms (e.g., fatigue and delirium tremens ) psychological dependence – dependence that involves emotional–motivational withdrawal symptoms (e.g., dysphoria and anhedonia ) reinforcing stimuli – stimuli that increase the probability of repeating behaviors paired with them rewarding stimuli – stimuli that the brain interprets as intrinsically positive and desirable or as something to approach sensitization – an amplified response to a stimulus resulting from repeated exposure to it substance use disorder – a condition in which the use of substances leads to clinically and functionally significant impairment or distress tolerance – the diminishing effect of a drug resulting from repeated administration at a given dose v t e Problem gambling is an urge to gamble continuously despite negative consequences or a desire to stop. ... A limited study was presented at a conference in Berlin, suggesting opioid release differs in problem gamblers from the general population, but in a very different way from alcoholics or other substance abusers. [26] The findings in one review indicated the sensitization theory is responsible. [27] Dopamine dysregulation syndrome has been observed in the aforementioned theory in people with regard to such activities as gambling. [28] Some medical authors suggest that the biomedical model of problem gambling may be unhelpful because it focuses only on individuals. ... Dependence Concepts Physical dependence Psychological dependence Withdrawal Disorders Drugs Alcoholism Amphetamine Barbiturate Benzodiazepine Caffeine Cannabis Cocaine Nicotine Opioid Non-drug stimuli Tanning dependence Treatment and management Detoxification Alcohol detoxification Drug detoxification Behavioral therapies Cognitive behavioral therapy Relapse prevention Contingency management Community reinforcement approach and family training Motivational enhancement therapy Motivational interviewing Motivational therapy Physical exercise Treatment programs Drug rehab Residential treatment center Heroin-assisted treatment Intensive outpatient program Methadone maintenance Smoking cessation Nicotine replacement therapy Tobacco cessation clinics in India Twelve-step program Support groups Addiction recovery groups List of twelve-step groups Harm reduction Category:Harm reduction Drug checking Reagent testing Low-threshold treatment programs Managed alcohol program Moderation Management Needle exchange program Responsible drug use Stimulant maintenance Supervised injection site Tobacco harm reduction See also Addiction medicine Allen Carr Category:Addiction Discrimination against drug addicts Dopamine dysregulation syndrome Cognitive control Inhibitory control Motivational salience Incentive salience Sober companion Category
Medications used to treat Parkinson's disease and restless legs syndrome. Drugs called dopamine agonists have a rare side effect that may result in compulsive behaviors, including gambling, in some people.