Load FindZebra SummaryDisclaimer: FindZebra Search conducts a search using our specialized medical serach engine. FindZebra Summary uses the GPT-3.5-Turbo API (subject to OpenAI’s API data usage policies) to summarize and reason about the search results. The search is conducted in publicly available information on the Internet that we present “as is”. You should be aware that FindZebra is not supplying any of the content in the search results.
Rheumatoid neutrophilic dermatitis Specialty Dermatology Rheumatoid neutrophilic dermatitis (also known as "Rheumatoid neutrophilic dermatosis" [1] ) is a cutaneous condition associated with rheumatoid arthritis . [2] See also [ edit ] Sweet's syndrome-like dermatosis List of cutaneous conditions References [ edit ] ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology . (10th ed.). Saunders. Page 180. ISBN 0-7216-2921-0 . ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set . St. Louis: Mosby. ISBN 1-4160-2999-0 . This dermatology article is a stub .
Interstitial granulomatous dermatitis with arthritis Other names Ackerman dermatitis syndrome, IGDA Specialty Dermatology Interstitial granulomatous dermatitis with arthritis ( IGDA ) or Ackerman dermatitis syndrome is a skin condition that most commonly presents with symmetrical round-to-oval red or violet plaques on the flanks, armpits, inner thighs, and lower abdomen. [1] See also [ edit ] Skin lesion References [ edit ] ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology . (10th ed.). Saunders. Page 180. ISBN 0-7216-2921-0 . External links [ edit ] Classification D External resources Orphanet : 79099 This cutaneous condition article is a stub .
Interstitial granulomatous dermatitis with arthritis is a rare rheumatologic disease characterized by the occurrence of inflammatory arthritis in association with large, erythematous, symmetrical cutaneous lesions (ranging from typical, but infrequent, cord-like lesions on the flanks to more common violaceous plaques on the trunk and limbs) featuring a typical histologic infiltrate mainly constituted of histiocytes.
Although the condition had previously been subdivided clinically into Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2, patients with PC were later found to have a mixed constellation of both types, leading to a classification of PC based on genotype (summary by Sybert, 2010; Eliason et al., 2012; McLean et al., 2011). ... Historical Classification of Pachyonychia Congenita Gorlin et al. (1976) suggested that 2 distinct syndromes are subsumed under the designation pachyonychia congenita. PC type 1, the Jadassohn-Lewandowsky type, shows oral leukokeratosis. ... Smith et al. (1998) stated that PC type 2, in contrast to PC type 1, has minimal oral involvement and milder keratoderma, and multiple steatocystomas (184500) is a major clinical feature. ... On the basis of a study of 13 patients with PC type 1 or type 2, Terrinoni et al. (2001) concluded that the presence of pilosebaceous cysts following puberty is the best indicator of PC type 2; prepubescent patients are more difficult to classify due to the lack of cysts.
Etiology Although historically two subtypes have been described, PC-1 and PC2, it is today recommended to classify PC patients into four subgroups based the underlying molecular etiology: PC-K6a, PC-K6b, PC-K16 and PC-K17, as PC is caused by dominant negative mutations in at least 4 genes [ KRT6A , KRT6B (12q13.13), KRT16 , KRT17 (17q21.2)] encoding keratins preferentially expressed in basal and suprabasal layers of palmoplantar skin, epidermal appendages and oral mucosa.
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
Although the condition had previously been subdivided clinically into Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2, patients with PC were later found to have a mixed constellation of both types, leading to a classification of PC based on genotype (summary by Sybert, 2010; Eliason et al., 2012; McLean et al., 2011). ... Historical Classification of Pachyonychia Congenita Gorlin et al. (1976) suggested that 2 distinct syndromes are subsumed under the designation pachyonychia congenita. PC type 1, the Jadassohn-Lewandowsky type, shows oral leukokeratosis. ... Smith et al. (1998) stated that PC type 2, in contrast to PC type 1, has minimal oral involvement and milder keratoderma, and multiple steatocystomas (184500) is a major clinical feature. ... On the basis of a study of 13 patients with PC type 1 or type 2, Terrinoni et al. (2001) concluded that the presence of pilosebaceous cysts following puberty is the best indicator of PC type 2; prepubescent patients are more difficult to classify due to the lack of cysts.
Although the condition had previously been subdivided clinically into Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2, patients with PC were later found to have a mixed constellation of both types, leading to a classification of PC based on genotype (summary by Sybert, 2010; Eliason et al., 2012; McLean et al., 2011). ... Historical Classification of Pachyonychia Congenita Gorlin et al. (1976) suggested that 2 distinct syndromes are subsumed under the designation pachyonychia congenita. PC type 1, the Jadassohn-Lewandowsky type, shows oral leukokeratosis. ... Smith et al. (1998) stated that PC type 2, in contrast to PC type 1, has minimal oral involvement and milder keratoderma, and multiple steatocystomas (184500) is a major clinical feature. ... On the basis of a study of 13 patients with PC type 1 or type 2, Terrinoni et al. (2001) concluded that the presence of pilosebaceous cysts following puberty is the best indicator of PC type 2; prepubescent patients are more difficult to classify due to the lack of cysts.
A number sign (#) is used with this entry because pachyonychia congenita-1 (PC1) is caused by heterozygous mutation in the keratin-16 gene (KRT16; 148067) on chromosome 17q21. ... Historical Classification of Pachyonychia Congenita Gorlin et al. (1976) suggested that 2 distinct syndromes are subsumed under the designation pachyonychia congenita. PC type 1, the Jadassohn-Lewandowsky type, shows oral leukokeratosis. ... Smith et al. (1998) stated that PC type 2, in contrast to PC type 1, has minimal oral involvement and milder keratoderma, and multiple steatocystomas (184500) is a major clinical feature. ... Connors et al. (2001) described a young girl with clinical features of pachyonychia congenita type 1 in whom the typical skin and nail changes were not noted until the age of 6 years. ... In a sporadic case of pachyonychia congenita-1, they identified heterozygosity for a 3-bp deletion in KRT16 (148067.0004).
The sea chervil, abundant in the area, frequently came up with the fishing nets and had to be thrown back into the water. ... Andrews' Diseases of the Skin: clinical Dermatology . Saunders Elsevier. ISBN 978-0-7216-2921-6 . ^ Bonnevie, P. (1948). "Fisherman's 'Dogger Bank Itch ' ". Allergy . 1 : 40–46. doi : 10.1111/j.1398-9995.1948.tb03301.x . ^ Carle JS, Christophersen C (1980). ... Comparative Biochemistry and Physiology B . 128 (1): 27–30. doi : 10.1016/S1096-4959(00)00316-X . ... Journal of Dermatological Treatment . 12 (1): 23–24. doi : 10.1080/095466301750163536 .
X-linked recessive chondrodysplasia punctata Specialty Medical genetics X-linked recessive chondrodysplasia punctata is a type of chondrodysplasia punctata that can involve the skin, hair, and cause short stature with skeletal abnormalities, cataracts, and deafness. [1] : 500 This condition is also known as arylsulfatase E deficiency, CDPX1, and X-linked recessive chondrodysplasia punctata 1. ... The mutations vary between missense, nonsense, insertions, and deletions. [6] Contents 1 Cause 2 Diagnosis 2.1 Biochemical confirmation 3 Treatment 4 See also 5 References 6 External links Cause [ edit ] The only known cause of this condition is a mutation in the X-linked chondrodysplasia punctata 1 (CDPX1) gene. ... Fitzpatrick's Dermatology in General Medicine . (6th ed.). McGraw-Hill. ISBN 0-07-138076-0 . ^ Malou, E.; Gekas, J.; Troucelier-Lucas, V.; Mornet, E.; Razafimanantsoa, L.; Cuvelier, B.; Mathieu, M.; Thépot, F. (2001-02-01). ... Archives de Pédiatrie . 8 (2): 176–180. doi : 10.1016/S0929-693X(00)00181-0 . ... Integrative Medicine: A Clinician's Journal . 14 (1): 34–9. PMC 4566462 . PMID 26770129 .
The disease is found everywhere that barley is grown, but only causes significant yield losses in warm, humid climates. [1] [2] Contents 1 Symptoms 2 Disease cycle 3 Yield loss 4 Management 5 External links 5.1 Extension publications 6 References Symptoms [ edit ] Infections appear as dark, chocolate-colored blotches. ... Yield losses of 10-30% may be occur when weather conditions are conducive to disease development. [1] Management [ edit ] The disease is managed by using resistant varieties, clean seed, seed treatments, foliar fungicide and rotation to non-cereal crops. ... American Phytopathological Society. pp. 120 pp. ISBN 0-89054-180-9 . ^ Martens, J.W.; W.L. ... Canadian Phytopathological Society. pp. 160 pp. ISBN 0-9691627-0-7 .
For children in age 1 year: 180 minutes physical activity, 0 hours screen time, 11–14 hours of sleep time per day. For children in age 2 year: 180 minutes physical activity, 1 hour screen time, 11–14 hours of sleep time per day. For 3-4 year-old children: 180 minutes physical activity, 1 hour screen time, 10–13 hours of sleep time per day. [81] Phone settings [ edit ] Many smartphone addiction activists (such as Tristan Harris) recommend turning one's phone screen to grayscale mode, which helps reduce time spent on mobile phones by making them boring to look at. [82] Other phone settings alterations for mobile phone non-use included turning on airplane mode, turning off cellular data and/or Wi-Fi, turning off the phone, removing specific apps, and factory resetting. [83] Phone apps [ edit ] German psychotherapist and online addiction expert Bert te Wildt recommends using apps such as Offtime and Menthal to help prevent mobile phone overuse. [84] In fact, there are many apps available on Android and iOS stores which help track mobile usage. ... BMJ Open . 9 (1): e023191. doi : 10.1136/bmjopen-2018-023191 . ... Yale University Press. ISBN 978-0-300-19621-4 . ^ Chan, Nee Nee; Walker, Caroline; Gleaves, Alan (1 March 2015).
Affluenza: How to Be Successful and Stay Sane . Vermilion . ISBN 978-0-09-190011-3 . ^ James, Oliver (2008). The Selfish Capitalist . Vermilion . ISBN 978-0-09-192381-5 . ^ James, Oliver (2007). ... London: Vermilion. p. 344 . ISBN 978-0-09-190010-6 . 1. The mean prevalence of emotional distress for the six English-speaking nations combined was 21.6%. ... Affluenza: When Too Much Is Never Enough . Allen & Unwin. ISBN 978-1-74115-624-9 . ^ "A Manifesto For Wellbeing" . ... O'Neill, ISBN 978-0-9678554-0-0 Voluntary Simplicity , Duane Elgin, ISBN 0-688-12119-5 Voluntary Simplicity , Daniel Doherty & Amitai Etzioni, ISBN 0-7425-2066-8 How Much Is Too Much?
See also: Hypertensive emergency and Hypertensive urgency Severely elevated blood pressure (equal to or greater than a systolic 180 or diastolic of 110—sometimes termed malignant or accelerated hypertension) is referred to as a hypertensive crisis , as blood pressure at this level confers a high risk of complications. People with blood pressures in this range may have no symptoms, but are more likely to report headaches (22% of cases) [1] and dizziness than the general population. [2] Other symptoms accompanying a hypertensive crisis may include visual deterioration due to retinopathy, breathlessness due to heart failure, or a general feeling of malaise due to kidney failure. [3] Most people with a hypertensive crisis are known to have elevated blood pressure, but additional triggers may have led to a sudden rise. [4] A " hypertensive emergency " is diagnosed when there is evidence of direct damage to one or more organs as a result of severely elevated blood pressure greater than 180 systolic or 120 diastolic. [5] This may include hypertensive encephalopathy , caused by brain swelling and dysfunction, and characterized by headaches and an altered level of consciousness (confusion or drowsiness). ... New York, NY: McGraw-Hill. pp. 1463–81. ISBN 978-0-07-139140-5 . ^ a b O'Brien, Eoin; Beevers, D. ... ABC of hypertension . London: BMJ Books. ISBN 978-1-4051-3061-5 . ^ a b c d e Marik PE, Varon J (June 2007).
The activity is popular among teenagers and young adults partly in response to rising drink prices at bars or clubs, and partly because more people can meet in one place. [1] Botellón is not an alternative to typical nightlife, but is rather an economical way to drink with people before going out to bars, discos, or clubs. [2] Contents 1 Origins 2 Characteristics 3 Opposition 4 Countermeasures 5 Designated botellón areas 6 Macro-botellón 7 See also 8 References Origins [ edit ] The origins of botellón trace back to Andalusia in the 1980s. ... Characteristics [ edit ] Botellón usually begins around 11:00 p.m. and ends around 3:00 a.m. when many people move to a bar or club. ... Since botellón is usually a nighttime activity, Spain passed a law that prohibits stores to sell alcohol to the public after 10:00 p.m, hoping to persuade people to attend clubs or bars where alcohol must remain on site. [ citation needed ] However, the measure is a controversial one because people can still buy alcohol before the selling limit hour and consume it in public. ... Alicante: El Mundo. 9 March 2010. ^ Reyes Rincón (28 November 2006). "Nace el 'botellódromo':El Ayuntamiento de Granada construye un espacio a las afueras de la ciudad para que 20.000 jóvenes puedan beber sin molestia" . ... CS1 maint: archived copy as title ( link ) ^ "Media España se cita en la Red para celebrar un macrobotellón el 17 de marzo" . 2006-03-07. ^ http://www.20minutos.es/noticia/97295/0/macrobotellones/ciudades/espana/ | Literally translated from Spanish ^ "El Ayuntamiento "no consentirá" el macrobotellón que se prepara en Moncloa" . 2006-03-07.
Oxford University Press US. p. 587. ISBN 0-19-515938-1 . ^ Bradley, Walter George (2004). ... ISBN 0-7817-5777-0 . ^ Miller, Neil R.; Frank Burton Walsh; Valérie Biousse; William Fletcher Hoyt (2005). ... ISBN 0-7817-4811-9 . ^ a b Loder, Elizabeth; Dawn A. ... Migraine in women . PMPH-USA. p. 21. ISBN 1-55009-180-8 . ^ Al-Twaijri, WA; Shevell, MI (May 2002). ... McGraw-Hill Professional. p. 127. ISBN 0-07-105467-7 . ^ G. D. Schott (2007).
Description The classification for headache disorders of the International Headache Society (1988) listed the following criteria for cluster headache (CH): at least 5 attacks of severe unilateral orbital, supraorbital, and/or temporal pain, lasting 15 to 180 minutes, associated with at least 1 of 8 local autonomic signs, and occurring once every other day to 8 per day. Approximately 85% of CH patients have the episodic subtype, in which the headaches occur in cluster periods lasting from 7 days to 1 year and separated by attack-free intervals of 1 month or more. The remainder of patients have the chronic subtype, in which attacks recur for greater than 1 year without remission or with remissions lasting less than 1 month (Lipton et al., 2004). ... He had pain in the right eye occurring 3 times a week, usually between 12:30 and 1:00 p.m., and lasting 30 to 60 minutes. ... Two of the 4 families were linked by a double marriage (2 sibs of 1 family married 2 sibs of another family).
Both 0 and 180 degrees lie on a horizontal line at the level of the center of the pupil, and as seen by an observer, 0 lies on the right of both the eyes. [ medical citation needed ] Irregular astigmatism, which is often associated with prior ocular surgery or trauma, is also a common naturally occurring condition. [16] The two steep hemimeridians of the cornea, 180° apart in regular astigmatism, may be separated by less than 180° in irregular astigmatism (called nonorthogonal irregular astigmatism); and/or the two steep hemimeridians may be asymmetrically steep—that is, one may be significantly steeper than the other (called asymmetric irregular astigmatism). ... Clinical & Experimental Optometry . 90 (1): 5–19. doi : 10.1111/j.1444-0938.2007.00112.x . ... Clinical & Experimental Optometry . 90 (1): 5–19. doi : 10.1111/j.1444-0938.2007.00112.x . ... Lippincott Williams & Wilkins. pp. 173–. ISBN 978-0-7817-4206-1 . ^ Carlo Cavallotti; Luciano Cerulli (31 May 2008). ... Clinical and Experimental Optometry . 90 (1): 5–19. doi : 10.1111/j.1444-0938.2007.00112.x .
During the newborn period At well-child visits until they reach school age During school years, every 1 to 2 years at well-child visits, at the eye doctor, or through school or public screenings Causes The eye has two structures with curved surfaces that bend (refract) light onto the retina, which makes the images: The cornea, the clear front surface of the eye along with the tear film The lens, a clear structure inside the eye that changes shape to help the eye focus on near objects In a perfectly shaped eye, each of these elements has a round curvature, like the surface of a smooth ball.
Corneal astigmatism is mainly the result of an aspheric anterior surface of the cornea, which can be measured readily by means of a keratometer; in a small fraction of cases (approximately 1 in 10) the effect is neutralized by the back surface.
Overview Ischemic colitis occurs when blood flow to part of the large intestine is temporarily reduced. This segment of the large intestine is called the colon. This reduced blood flow may be caused by narrowing of the blood vessels supplying the colon. It also may be due to reduced blood flow caused by low blood pressure. The diminished blood flow doesn't provide enough oxygen for the cells in the digestive system. This can result in tissue damage to the affected area of the intestine.
Almost all diktyomas arise in the ciliary body, although, rarely, they may arise from the optic nerve head or retina . [1] The name "diktyoma" comes from its characteristic findings on histology . ... Depending on the direction of the folding, some folds surround fluid collection, while others do not. [1] These fluid-filled spaces correspond to the grossly observed small cysts, which are mainly composed of vitreous humor. [1] About 30-50 percent of diktyomas contain heteroplastic elements, and thus belong to the teratoid subtype. [1] [4] These heteroplatic elements may include hyaline cartilage , rhabdomyoblasts , and neuroglial tissue. [3] Sarcomatous elements may be seen in malignant tumors. ... Mortality may occur in patients with extraocular extension to the brain. [1] [4] [6] Lack of glial differentiation, as demonstrated by negative staining for glial fibrillary acidic protein (GFAP), may confer a favourable prognosis. [11] Epidemiology [ edit ] Mean age at diagnosis is 5 years. [1] [2] While most cases occur in young children, adult cases have been reported. [1] [9] Incidence is similar in male and female and among different races. ... American Journal of Ophthalmology . 130 (3): 364–366. doi : 10.1016/S0002-9394(00)00542-0 . ^ a b c d e Vajaranant, Thasarat S.; Mafee, Mahmood F.; Kapur, Rashmi; Rapoport, Mark; Edward, Deepak P. ... Neuroimaging Clinics of North America . 15 (1): 69–83. doi : 10.1016/j.nic.2005.02.008 .
Medulloepithelioma of the central nervous system is a rare, primitive neuroectodermal tumor characterized by papillary, tubular and trabecular arrangements of neoplastic neuroepithelium, mimicking the embryonic neural tube, most commonly found in the periventricular region within the cerebral hemispheres, but has also been reported in brainstem and cerebellum. It usually presents in childhood with headache, nausea, vomiting, facial nerve paresis, and/or cerebellar ataxia, and typically has a progressive course, highly malignant behavior and poor prognosis. Hearing and visual loss have also been observed.
Specialty Neurosurgery , oncology Medulloepithelioma is a rare, primitive, fast-growing brain tumour thought to stem from cells of the embryonic medullary cavity . [1] Tumours originating in the ciliary body of the eye are referred to as embryonal medulloepitheliomas, [1] or diktyomas . [2] A highly malignant undifferentiated primitive neuroepithelial tumour of children, medulloepithelioma may contain bone , cartilage , skeletal muscle , and tends to metastasize extracranially. [2] Contents 1 Signs and symptoms 2 Diagnosis 2.1 Classification 3 Treatment 4 Prognosis 5 Epidemiology 6 References 7 External links Signs and symptoms [ edit ] Medulloepithelioma have been reported to occur in the cerebral hemispheres , brainstem , cerebellum , and peripheral sites . [3] [4] [5] [6] Due to rapid growth of the tumour, patients typically present with increased intracranial pressure , seizures , and focal neurologic signs . [7] Diagnosis [ edit ] Neuronal differentiation, ranging from neuroblasts to ganglion cells, is seen in some medulloepitheliomas. ... Classification [ edit ] Medulloepithelioma was originally classified as the most primitive neoplasm of the Central Nervous System (CNS) by Bailey and Cushing in 1926. [4] Rorke et al. [12] classified this tumour into two subtypes: 1) medulloepithelioma not otherwise specified 2) medulloepithelioma with differentiation into astrocytes , oligodendrocytes ; ependymal cells ; neuronal cells ; others ( melanin , mesenchymal cells ); and mixed cellular elements. ... Pigmented medulloepithelioma: report of a case and review of the literature. Childs Nerv Syst. 1998 Jan-Feb;14(1-2):74-8. ^ Chidambaram B; Santosh V; Balasubramaniam V.
HV : right ventricle; VCS : superior caval vein; VCI : inferior caval vein; 1 : upper sinus venosus defect; 2 : lower sinus venosus defect; 3 : secundum defect; 4 : defect involving coronary sinus; 5 ; primum defect. ... Endocardial cushion defects are the most common congenital heart defect that is associated with Down syndrome . Contents 1 Signs and symptoms 2 Diagnosis 2.1 Classification 3 Treatment 4 References 5 External links Signs and symptoms [ edit ] On ECG a left axis deviation is generally found in ostium primum ASD, but an RSR pattern (M pattern) in V1 is characteristic. ... In contrast ostium secundum defects have an axis between 0 degrees and 180 degrees with most cases to the right of 100 degrees. ... Diagnosis [ edit ] Classification [ edit ] A defect in the ostium primum is occasionally classified as an atrial septal defect , [1] but it is more commonly classified as an atrioventricular septal defect . [2] [3] Treatment [ edit ] Hemodynamically significant ASDs (flow ratio 1.5:1) are large enough to be closed surgically. ... Baltimore: Williams & Wilkins. pp. 52 . ISBN 978-0-683-30272-1 . ^ Q21.2 Sources Pryor R, Woodwork MB, Blount SG: Electrocardiographic Changes in Atrial Septal Defects:Ostium Secundum versus Ostium Primum defect.
Because of inertial forces created by acceleration of the aircraft along with centrifugal force caused by turning, the net gravitoinertial force sensed primarily by the otolith organs is not aligned with gravity, leading to perceptual misjudgment of the vertical. ... The result of these various visual and nonvisual illusions is spatial disorientation. [1] [2] [3] Various models have been developed to yield quantitative predictions of disorientation associated with known aircraft accelerations. [4] Effects of disorientation [ edit ] Once an aircraft enters conditions under which the pilot cannot see a distinct visual horizon, the drift in the inner ear continues uncorrected. ... Reston, VA: American Institute of Astronautics and Aeronautics. ^ "GO FLIGHT MEDICINE - Spatial Disorientation" . April 1, 2013. ^ "spatial disorientation - physiology" . ... April 15, 2014. ^ Aulls Bryan, Leslie (1954). 180-degree turn experiment . University of Illinois. ... OL 207786M . ^ "Spatial Disorientation - Go Flight Medicine" . 1 April 2013 . Retrieved 30 July 2016 . ^ "Japan pilot crashed after 'spatial disorientation ' " . 2019-06-10 .
Affected individuals exhibited a relative resting bradycardia and mild prolongation of the QTc segment compared to unaffected sibs; polymorphic ventricular tachycardia (PVT) was inducible by treadmill or isoproterenol infusion in all affected individuals and 1 asymptomatic sib, appearing at a mean sinus rate of 110 bpm. ... Di Barletta et al. (2006) reported a 6-year-old boy with a history of effort-induced syncopal episodes from 3 years of age, in whom exercise stress testing demonstrated rapid PVT; Holter monitoring showed several runs of asymptomatic polymorphic and bidirectional sustained VT at rates of 170 to 180 bpm during outdoor play. The authors also described an unrelated 17-year-old girl with onset of syncopal episodes at 4 years of age and PVT of up to 200 bpm on ECG, in whom antiarrhythmic therapy and left cardiac sympathetic denervation were unsuccessful and who ultimately required an implantable cardioverter defibrillator. ... Mapping Lahat et al. (2001) performed genomewide linkage analysis in 7 consanguineous Bedouin families segregating catecholamine-induced PVT in an autosomal recessive fashion and mapped the disease locus to a 16-Mb interval on chromosome 1p21-p13, with a maximum lod score of 8.24 obtained at D1S189 (theta = 0). Molecular Genetics Lahat et al. (2001) analyzed the CASQ2 gene in members of 7 consanguineous Bedouin families in Israel with CPVT and identified homozygosity for a mutation (N307H; 114251.0001) in all affected individuals.
The bidirectional tachycardia is defined as a ventricular arrhythmia with an alternating 180°-QRS axis on a beat-to-beat basis; some individuals may have polymorphic VT without a "stable" QRS vector alternans. ... Although there are no comparative studies, the majority of international referral centers use nadolol (1-2.5 mg/kg/day divided into 2 doses per day) or propranolol (2-4 mg/kg/day divided into 3-4 doses per day). ... More detailed information for clinicians ordering genomic testing can be found here. Table 1. Molecular Genetic Testing Used in Catecholaminergic Polymorphic Ventricular Tachycardia View in own window Gene 1 Proportion of CPVT Attributed to Pathogenic Variants in Gene Proportion of Pathogenic Variants 2 Detectable by Method Sequence analysis 3 Gene-targeted deletion/duplication analysis 4 CALM1 <1% 5 ~100% Unknown 6 CASQ2 2%-5% 7 ~100% Unknown 6 RYR2 50%-55% 8 ~99% Unknown 6, 9 TRDN 1%-2% 10 ~100% Unknown 6 Unknown 11 35%-45% 12 NA 1. ... Prevalence The true prevalence of CPVT in the population is not known. An estimate of CPVT prevalence is 1:10,000. The high prevalence of simplex cases (i.e., single occurrences in a family) and lethality at a young age suggest that the overall prevalence of CPVT is significantly lower than that of other inherited arrhythmogenic disorders such as long QT syndrome (1:7,000-1:5,000). ... The reproducible induction of arrhythmia during exercise allows effective dose titration and monitoring. Recommended drugs are nadolol (1-2.5 mg/kg/day divided into two doses per day) or propranolol (2-4 mg/kg/day divided into 3-4 doses per day).
A number sign (#) is used with this entry because catecholaminergic polymorphic ventricular tachycardia-1 (CPVT1) is caused by heterozygous mutation in the cardiac ryanodine receptor gene (RYR2; 180902) on chromosome 1q43. ... However, sequence analysis of the entire KCNK1 coding region identified no mutations or polymorphisms. Only 1 heterozygous carrier, aged 30 years, was unaffected, suggesting high disease penetrance in adulthood. In a large 3-generation family segregating autosomal dominant CPVT associated with nodal dysfunction, atrial arrhythmias, and dilated cardiomyopathy, Bhuiyan et al. (2007) performed linkage analysis and identified a single locus on chromosome 1 between markers D1S2785 and D1S2850 that cosegregated with disease (2-point lod score of 4.5). ... The authors identified 63 putative disease-causing mutations that were not found in 400 reference alleles in 73 (47%) of the 155 patients; 13 new mutation-containing exons were identified, with two-thirds of the patients having mutations in 1 of 16 exons. Three large genomic rearrangements involving exon 3 were detected in 3 unrelated cases.
Epidemiology The prevalence of catecholaminergic polymorphic ventricular tachycardia (CPVT) is estimated to be 1/10,000. Both sexes are equally affected. ... Other, rarer genes causing CPVT include Trans-2,3-enoyl-CoA reductase-like ( TECRL , 4q13.1), calmodulin-1 ( CALM1 , 14q32.11), and cardiac triadin ( TRDN , 6q22.31).
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a genetic disorder that causes an abnormally fast and irregular heart rhythm in response to physical activity or emotional stress. Signs and symptoms include light-headedness, dizziness, and fainting. Symptoms most often develop between 7 to 9 years of age. If untreated CPVT can cause a heart attack and death. CPVT is caused by mutations in the RYR2 or CASQ2 genes. When a RYR2 gene mutation is involved, the condition is passed through families in an autosomal dominant fashion. When CASQ2 gene mutations are involved, the condition is inherited in an autosomal recessive fashion.
An older brother with a history of repeated syncope during exercise was reported to show polymorphic ventricular tachycardia on an exercise ECG; a follow-up ECG while on a beta-1 adrenergic receptor blocker showed PVCs at high loads. ... The proband also had a brother who had drowned at 15 years of age during a swimming competition after prior episodes of syncope, and an older sister who had episodic syncope and was later found to have ventricular fibrillation, but stabilized on a beta-1 adrenergic receptor blocker and became asymptomatic. ... The proband's older sister had 6 children, 4 of whom were affected, including a son who died suddenly at 13 years of age while on a beta-1 adrenergic receptor blocker for syncopal episodes that had started at 2.5 years of age. A daughter, who began having syncope at 4 years of age and was asymptomatic on a beta-1 adrenergic receptor blocker, suffered cardiac arrest at age 16, was resuscitated, and received an implantable cardiac defibrillator (ICD). ... INHERITANCE - Autosomal dominant CARDIOVASCULAR Heart - Polymorphic ventricular tachycardia induced by physical activity or stress - Dizziness - Syncope - Cardiac arrest - Sudden death - Prominent U-waves in anterior leads on electrocardiogram - Premature ventricular contractions, including couplets and triplets of variable morphology MISCELLANEOUS - Onset within the first decade of life MOLECULAR BASIS - Caused by mutation in the calmodulin-1 gene (CALM1, 114180.0001 ) ▲ Close
A number sign (#) is used with this entry because of evidence that catecholaminergic polymorphic ventricular tachycardia-3 (CPVT3) is caused by homozygous mutation in the TECRL gene (617242) on chromosome 4q13. Description Catecholaminergic polymorphic ventricular tachycardia-3 (CPVT3) is characterized by overlapping features of long QT syndrome (see 192500) and CPVT. Affected individuals exhibit adrenergic ventricular tachycardia associated with a high prevalence of cardiac arrest and sudden cardiac death, with recurrent atrial tachycardia sometimes triggering the ventricular arrhythmias. In addition, affected individuals have a normal or mildly prolonged QTc on baseline electrocardiography, with a paradoxical QT increase during adrenergic simulation (summary by Devalla et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of CPVT, see 604772.
A number sign (#) is used with this entry because of evidence that catecholaminergic polymorphic ventricular tachycardia-5 with or without muscle weakness (CPVT5) is caused by homozygous or compound heterozygous mutation in the triadin gene (TRDN; 603283) on chromosome 6q22. For a general phenotypic description and a discussion of genetic heterogeneity of CPVT, see 604772. Clinical Features Roux-Buisson et al. (2012) studied 2 families with cardiac arrhythmias. In the first family, which originated from the French West Indies, the 2-year-old proband experienced syncope followed by cardiac arrest after a shock while playing with his 7-year-old brother. Resting electrocardiogram (ECG) after resuscitation showed numerous polymorphic or bidirectional ventricular extra beats and runs of polymorphic ventricular tachycardia.
