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A number sign (#) is used with this entry because of evidence that spermatogenic failure-38 (SPGF38) is caused by homozygous mutation in the ARMC2 gene (618424) on chromosome 6q21. For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). Description Spermatogenic failure-38 (SPGF38) is characterized by primary infertility and asthenoteratozoospermia due to multiple morphologic abnormalities of the flagella (MMAF). ... Transmission electron microscopy was performed in sperm cells from 1 patient (ARMC2_1), in whom the main defect observed was the absence of the central-pair complex (9 + 0 conformation). Some sections showed severe axonemal disorganization associated with periaxonemal structural defects such as unassembled outer dense fibers. ... INHERITANCE - Autosomal recessive GENITOURINARY Internal Genitalia (Male) - Primary infertility - Asthenoteratozoospermia - Low to normal sperm concentrations - Reduced sperm motility, severe - Abnormal acrosomal region - Short flagella - Irregular-caliber flagella - Absent flagella - Coiled flagella - Angulated flagella - Tapered head - Microcephalic sperm - Thin sperm head - Multiple sperm heads - Abnormal acrosomal region - Abnormal base - Absent central-pair complex (9 + 0 conformation) - Severe axonemal disorganization - Periaxonemal structural defects - Unassembled outer dense fibers - Unassembled microtubule doublets MOLECULAR BASIS - Caused by mutation in the armadillo repeat-containing protein-2 gene (ARMC2, 618424.0001 ) ▲ Close
Human African Trypanosomiasis (HAT), also called sleeping sickness, is a vector-borne parasitic disease caused by a protozoa of the Trypanosoma genus transmitted by the bite of a tsetse fly (genus Glossina ), that is found under its chronic form (average duration of 3 years) in western and central Africa (in case of the T. brucei gambiense sub-species), and under its acute form (lasting from few weeks to 6 months) in eastern and southern Africa (in case of the T. brucei rhodesiense sub-species). HAT comprises an initial hemo-lymphatic stage characterized by fever, weakness, musculoskeletal pain, anemia, and lymphadenopathy, along with dermatologic, cardiac and endocrine complications or hepatosplenomegaly, followed by a meningo-encephalitic stage characterized by neurologic involvement (sleep disturbances, psychiatric disorders, seizures) that progresses, in the absence of treatment, towards a fatal meningoencephalitis.
Discovering Psychology . Worth Publishers. ISBN 0-7167-5704-4 . [ page needed ] ^ Fried, Yehuda; Joseph Agassi (1976). ... Needham Heights, MA, USA: Allyn & Bacon. ISBN 0-205-14164-1 . Das, J.P. (2002). A better look at intelligence. ... Cambridge: Cambridge University Press. pp. 445–476. ISBN 978-0-521-59648-0 . Lay summary (22 July 2013). ... Essentials of Psychological Testing . John Wiley & Sons. ISBN 978-0-471-41978-5 . Lay summary (10 October 2013). ... Cambridge: Cambridge University Press. pp. 20–38. ISBN 978-0-521-73911-5 . Lay summary (9 February 2012).
For many years the major focus was South Sudan (independent after 2011, formerly the southern region of Sudan ), which reported 76% of all cases in 2013. [31] In 2017 only Chad and Ethiopia had cases. [37] Date South Sudan Mali Ethiopia Chad Total 2011 1,028 [38] 12 [38] 8 [38] 10 [38] 1058 2012 521 [38] 7 [38] 4 [38] 10 [38] 542 2013 113 [38] 11 [38] 7 [38] 14 [38] 148 (including 3 exported to Sudan) 2014 70 [38] 40 [38] 3 [38] 13 [38] 126 2015 5 [38] 5 [38] 3 [38] 9 [38] 22 2016 6 [38] 0 [38] 3 [38] 16 [38] 25 2017 0 [34] 0 [34] 15 [34] 15 [34] 30 2018 10 [39] 0 [39] 0 [39] 17 [39] 28 (including one isolated case in Angola) 2019 4 [39] 0 [39] 0 [39] 47 [39] 53 (including one isolated case in Angola and Cameroon) Eradication program [ edit ] Main article: Eradication of dracunculiasis Logarithmic scale of reported human cases of guinea worm by year, 1989–2017 (2017 data is provisional). [40] Since humans are the principal host for Guinea worm, and there is no evidence that D. medinensis has ever been reintroduced to humans in any formerly endemic country as the result of non-human infections, the disease can be controlled by identifying all cases and modifying human behavior to prevent it from recurring. [9] [41] Over the years, the eradication program has faced several challenges: Inadequate security in some endemic countries Lack of political will from the leaders of some of the countries in which the disease is endemic The need for change in behaviour in the absence of a magic bullet treatment like a vaccine or medication Inadequate funding at certain times [11] The newly recognised transmission of guinea worm through non-human hosts (both domestic and wild animals) History [ edit ] Rod of Asclepius Dracunculiasis has been a recognized disease for thousands of years: Guinea worm has been found in calcified Egyptian mummies . [9] An Old Testament description of "fiery serpents" may have been referring to Guinea worm: "And the Lord sent fiery serpents among the people, and they bit the people; and much people of Israel died." ( Numbers 21:4–9). [10] In the 2nd century BC, the Greek writer Agatharchides described this affliction as being endemic amongst certain nomads in what is now Sudan and along the Red Sea. [42] [10] In the 18th century, Swedish naturalist Carl Linnaeus identified D. medinensis in merchants who traded along the Gulf of Guinea (West African Coast). ... McGraw-Hill. pp. 480 –484. ISBN 978-0-07-128458-5 . ^ Hopkins DR; Ruiz-Tiben E; Downs P; Withers PC Jr.; Maguire JH (2005-10-01). ... "Recommendations of the International Task Force for Disease Eradication" . MMWR Recomm Rep . 42 (RR–16): 1–38. PMID 8145708 . Archived from the original on 2007-05-09. ^ Dracunculiasis: Treatment & Medication~treatment at eMedicine ^ Watts S (2000).
Dracunculiasis (Guinea worm disease) is a neglected tropical disease (NTD) characterized by a painful burning skin lesion from which the Dracunculus medinensis parasite emerges approximately 1 year after infection resulting from consumption of unsafe drinking water containing parasite-infected copepods ( Cyclops spp. , microcrustacea also called water fleas). Epidemiology In 2012, 542 cases were reported in 4 countries (Chad, Ethiopia, Mali, and South Sudan), a decrease of >99% since 1990. The global dracunculiasis program aims to eradicate the parasite from the last remaining endemic villages located in difficult to reach areas. Clinical description Clinical manifestations appear 10-14 months after infection and include constitutional symptoms (such as low-grade fever, itchy rash, nausea, vomiting, diarrhea, dizziness) followed by a localized swelling developing into a painful blister, most often on a lower limb. On contact with water, the adult female worm (70-100 cm) bursts through the blister, depositing her larvae in the water where they are consumed by copepods, starting the cycle anew.
Andrews' Diseases of the Skin: Clinical Dermatology . (10th ed.). Saunders. ISBN 0-7216-2921-0 . Further reading [ edit ] Argenziano G, Monsurrò MR, Pazienza R, Delfino M (February 1998). "A case of probable autosomal recessive ectodermal dysplasia with corkscrew hairs and mental retardation in a family with tuberous sclerosis". J. Am. Acad. Dermatol . 38 (2 Pt 2): 344–8. doi : 10.1016/S0190-9622(98)70580-8 .
Bowling Green State UP. p. 19 . ISBN 978-0-87972-339-2 . Cockburn, Bruce (1991). Human Beings . Cambridge UP. ISBN 978-0-521-42245-1 . Crawford, Julie (2005). ... U of Pennsylvania P. pp. 61–77. ISBN 978-0-8122-3713-9 . Kukla, Rebecca (2005). ... Renaissance Quarterly . 38 (1): 85–106. doi : 10.2307/2861332 . ... Political Theologies: Public Religions in a Post-Secular World . Fordham UP. pp. 122 –36. ISBN 978-0-8232-2645-0 .
"Linear IgA bullous dermatosis in adults and children: a clinical and immunopathological study of 38 patients" . Orphanet Journal of Rare Diseases . 14 (1): 115. doi : 10.1186/s13023-019-1089-2 . ... Andrews' Diseases of the Skin: Clinical Dermatology . (10th ed.). Saunders. ISBN 0-7216-2921-0 . ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine . (6th ed.). McGraw-Hill. ISBN 0-07-138076-0 . ^ He Y, Shimoda M, Ono Y, Villalobos IB, Mitra A, Konia T, Grando SA, Zone JJ, Maverakis E (2015).
A rare, acquired autoimmune bullous skin disease characterized by annular, grouped blisters on the skin and, frequently, mucous membranes with linear deposition of immunoglobulin A along the basement membrane zone (BMZ). Epidemiology The estimated incidence varies worldwide, ranging between 0.2-1/1000,000. Clinical description Linear IgA dermatosis (LAD) has two forms: the infantile/childhood form and the adult form. In children, presentation is characterized by annular, tense blisters with new lesions appearing at the periphery of older lesions, giving the ''string of pearls'' appearance. Sites of predilection include the face, lower trunk, perineum, and perioral region.
The only symptom common to all patients appears to be a fever above 38 °C (100 °F). SARS may eventually lead to shortness of breath and pneumonia ; either direct viral pneumonia or secondary bacterial pneumonia . [ citation needed ] The average incubation period for SARS is 4–6 days, although rarely it could be as short as 1 day or as long as 14 days. [9] Transmission [ edit ] The primary route of transmission for SARS-CoV is contact of the mucous membranes with respiratory droplets or fomites . While diarrhea is common in people with SARS, the fecal–oral route does not appear to be a common mode of transmission. [9] The basic reproduction number of SARS-CoV, R 0 , ranges from 2 to 4 depending on different analyses. Control measures introduced in April 2003 reduced the R to 0.4. [9] Diagnosis [ edit ] A chest X-ray showing increased opacity in both lungs, indicative of pneumonia , in a patient with SARS SARS-CoV may be suspected in a patient who has: Any of the symptoms , including a fever of 38 °C (100 °F) or higher, and Either a history of: Contact (sexual or casual) with someone with a diagnosis of SARS within the last 10 days or Travel to any of the regions identified by the World Health Organization (WHO) as areas with recent local transmission of SARS. Clinical Criteria of Sars-Cov Diagnosis [10] Early illness: equal to or more than 2 of the following: chills , rigors, myalgia , diarrhea , sore throat (self – reported or observed) Mild-to-Moderate illness: temperature of > 38 plus indications of lower respiratory tract infection (cough, dyspnea) Severe Illness: ≥1 of radiographic evidence, presence of ARDS, autopsy findings in late patients. ... As a result of quarantine procedures, some of the post-SARS patients have been documented as suffering from post-traumatic stress disorder (PTSD) and major depressive disorder . [31] [32] Epidemiology [ edit ] Main article: 2002–2004 SARS outbreak SARS was a relatively rare disease; at the end of the epidemic in June 2003, the incidence was 8,422 cases with a case fatality rate (CFR) of 11%. [4] The case fatality rate (CFR) ranges from 0% to 50% depending on the age group of the patient. [9] Patients under 24 were least likely to die (less than 1%); those 65 and older were most likely to die (over 55%). [33] As with MERS and COVID-19 , SARS resulted in significantly more deaths of males than females. 2003 Probable cases of SARS – worldwide Probable cases of SARS by country or region, 1 November 2002 – 31 July 2003 [34] Country or region Cases Deaths Fatality (%) China [a] 5,327 349 6.6 Hong Kong 1,755 299 17.0 Taiwan [b] 346 73 [35] [36] 21.1 Canada 251 43 17.1 Singapore 238 33 13.9 Vietnam 63 5 7.9 United States 27 00 Philippines 14 2 14.3 Thailand 9 2 22.2 Germany 9 00 Mongolia 9 00 France 7 1 14.3 Australia 6 00 Malaysia 5 2 40.0 Sweden 5 00 United Kingdom 4 00 Italy 4 00 Brazil 3 00 India 3 00 South Korea 3 00 Indonesia 2 00 South Africa 1 1 100.0 Colombia 1 00 Kuwait 1 00 Ireland 1 00 Macao 1 00 New Zealand 1 00 Romania 1 00 Russia 1 00 Spain 1 00 Switzerland 1 00 Total excluding China [a] 2,769 454 16.4 Total (29 territories) 8,096 774 9.6 ^ a b Figures for China exclude Hong Kong and Macau, which are reported separately by the WHO . ^ After 11 July 2003, 325 Taiwanese cases were 'discarded'.
After about a week, signs and symptoms include: Fever of 100.5 F (38 C) or higher Dry cough Shortness of breath When to see a doctor SARS is a serious illness that can lead to death.
A rare pulmonary disease induced by SARS-CoV coronavirus infection, with a reported incubation period varying from 2 to 7 days. Patients present flu-like symptoms, including fever, malaise, myalgia, headache, diarrhoea, and rigors. Dry, nonproductive, cough and dyspnea are frequently reported. Severe cases evolve rapidly, progressing to respiratory distress and failure, requiring intensive care. Mortality rate is 10%. The disease appeared in 2002 in southern China, subsequently spreading in 2003 to 26 countries. Reported human-to-human transmission occurred in Toronto (Canada), Hong Kong Special Administrative Region of China, Chinese Taipei, Singapore, and Hanoi (Viet Nam).
. ^ Crash Course: Psychiatry by Julius Bourke, Matthew Castle, Alasdair D. Cameron 2008 ISBN 0-7234-3476-X page 255 ^ Introduction to Neurogenic Communication Disorders by Robert H. Brookshire 1997 ISBN 0-323-04531-6 page 393 ^ Perspectives on Treatment for Communication Deficits Associated With Right Hemisphere Brain Damage by Margaret Lehman Blake 2007 ISSN 1058-0360 page 333 ^ a b P. ... ISBN 9780521810753 . Retrieved 2012-01-12 . ISBN 0-521-81075-2 ^ Tali Ditman & Gina R. ... Goldman 2000 - Review of general psychiatry - 583 pages A Lange medical book McGraw-Hill Professional , Retrieved 2012-01-17 ISBN 0-8385-8434-9 ^ Jeffrey A. Lieberman, T. ... "Premorbid IQ varies across different definitions of schizophrenia" . World Psychiatry . 6 (1): 38–41. PMC 1805734 . PMID 17342225 .
The prevalence of nonalcoholic fatty liver disease was 38% among carriers of the variant alleles compared to 0% among wildtype homozygotes, and those with NAFLD had marked insulin resistance.
Columbia University Press . pp. 77–107 . ISBN 978-0-231-12804-9 . ^ a b Shan, HH (2000). ... Commack, New York : Nova Science Publishers . p. 231. ISBN 978-1-56072-663-0 . ^ Hwang, Wei-Chin (1 December 2007). ... Blue Poppy Press. p. 434. ISBN 978-1-891845-38-3 . ^ a b Robinson, Bruce H. (2007). ... Blue Poppy Press. p. 435. ISBN 978-1-891845-38-3 . ^ Sing, Lee, & Kleinman, Arthur (2002). ... Oxford , England , UK : Oxford University Press . pp. 181–186 . ISBN 978-0-19-532905-6 .
Photosensitivity with HIV infection Specialty Dermatology Photosensitivity with HIV infection is a skin condition resembling polymorphous light eruption , actinic prurigo , or chronic actinic dermatitis , seen in about 5% of HIV -infected people. [1] : 38 See also [ edit ] Skin lesion References [ edit ] ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology . Saunders Elsevier. ISBN 978-0-7216-2921-6 . v t e Radiation-related disorders / Photodermatoses Ultraviolet / ionizing Sunburn Phytophotodermatitis Solar urticaria Polymorphous light eruption Benign summer light eruption Juvenile spring eruption Acne aestivalis Hydroa vacciniforme Solar erythema Non-ionizing Actinic rays Actinic keratosis Atrophic actinic keratosis Hyperkeratotic actinic keratosis Lichenoid actinic keratosis Pigmented actinic keratosis Actinic cheilitis Actinic granuloma Actinic prurigo Chronic actinic dermatitis Infrared / heat Erythema ab igne ( Kangri ulcer Kairo cancer Kang cancer Peat fire cancer ) Cutis rhomboidalis nuchae Poikiloderma of Civatte Other Radiation dermatitis Acute Chronic radiodermatitis ) Favre–Racouchot syndrome Photoaging Photosensitivity with HIV infection Phototoxic tar dermatitis This cutaneous condition article is a stub .
This carcinoma is aggressive in nature, spreads locally and is associated with a poor prognosis . [7] The cancer has a 18-38% rate of metastasis . [9] 40% occur on the lower limb and the malignant change is usually painless. ... Fitzpatrick's Dermatology in General Medicine . (6th ed.). McGraw-Hill. ISBN 0-07-138076-0 . ^ Phillips TJ, Salman SM, Bhawan J, Rogers GS (May 1998). ... "Transcriptional Analysis Reveals Evidence of Chronically Impeded ECM Turnover and Epithelium-to-Mesenchyme Transition in Scar Tissue Giving Rise to Marjolin's Ulcer". J Burn Care Res . 38 (1): e14–e22. doi : 10.1097/BCR.0000000000000432 .
Many species of coral found in the area were affected and the mortality rate of these was up to 38%. The pathogen involved was found to be a previously unknown species of bacterium in the order Rhizobiales, which was placed in the newly created genus Aurantimonas and given the name Aurantimonas coralicida , and the disease was described as white plague type 2. [2] The pathogen was isolated from a diseased colony of Dichocoenia stokesi and cultured in the laboratory, subsequently being used to inoculate two healthy colonies which then developed the disease. [3] In the next few months, it had spread over 200 km (124 mi) of reef and was killing seventeen species of coral. ... John Wiley & Sons. p. 64. ISBN 978-0-8138-2411-6 . ^ Denner, E.B.M. (2003). " Aurantimonas coralicida gen. nov., sp. nov., the causative agent of white plague type II on Caribbean scleractinian corals" . International Journal of Systematic and Evolutionary Microbiology . 53 (4): 1115–1122. doi : 10.1099/ijs.0.02359-0 . ISSN 1466-5026 . PMID 12892136 . ^ a b Woodley, Cheryl M.; Downs, Craig A.; Bruckner, Andrew W.; Porter, James W.; Galloway, Sylvia B. (2016). ... John Wiley & Sons. pp. 324–326. ISBN 978-0-8138-2411-6 . ^ a b Rosenberg, Eugene; Loya, Yossi (2004).
Spitz nevus are non-cancerous skin lesions that tend to be dome-shaped, red, reddish-brown or dark colored. They usually develop on the face or limbs of young children. They tend to grow quickly initially, but then stabilize or even disappear after a period of time. Spitz nevi can be very difficult to distinguish from melanoma, as a result treatment tends to involve excision of the nevi.
Texting and driving is banned in most of the country; new drivers in 38 states and DC are not permitted to use cell phones behind the wheel. ... For children in age 1 year: 180 minutes physical activity, 0 hours screen time, 11–14 hours of sleep time per day. ... In Android a similar feature called "digital wellbeing" has been implemented to keep track of cell phone usage. [85] These apps usually work by doing one of two things: increasing awareness by sending user usage summaries, or notifying the user when he/she has exceeded some user-defined time-limit for each app or app category. ... Behaviour & Information Technology . 38 (2): 110–119. doi : 10.1080/0144929X.2018.1515984 . ... Yale University Press. ISBN 978-0-300-19621-4 . ^ Chan, Nee Nee; Walker, Caroline; Gleaves, Alan (1 March 2015).
Mapping In a large kindred in which 8 members had atrial fibrillation, Ellinor et al. (2003) identified preliminary evidence of linkage with marker D6S1595 (maximum lod = 2.30 at theta = 0). Using 38 additional markers on chromosome 6, a peak 2-point lod score of 3.63 (theta = 0.10) was achieved with marker D6S1021.
A number sign (#) is used with this entry because of evidence that familial atrial fibrillation-12 (ATFB12) is caused by heterozygous mutation in the ABCC9 gene (601439) on chromosome 12p12. Description Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke (Brugada et al., 1997). For a discussion of genetic heterogeneity of familial atrial fibrillation, see ATFB1 (608583).
A number sign (#) is used with this entry because of evidence that familial atrial fibrillation-7 (ATFB7) is caused by heterozygous mutation in the KCNA5 gene (176267) on chromosome 12p13. Description Atrial fibrillation (AF) is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke (Brugada et al., 1997). For a discussion of genetic heterogeneity of atrial fibrillation, see 608583.
All affected individuals presented with symptomatic paroxysmal AF between 38 and 48 years of age. Two additional family members, aged 44 years and 36 years, reported episodic palpitations lasting up to 20 minutes and occurring every couple of months, but AF had not yet been documented. ... In a 3-generation family with lone AF, Das et al. (2009) evaluated known genetic loci for AF as well as for other heritable conditions in which AF had been reported, and found evidence of linkage with marker DS11S4088, located within the KCNQ1 gene (lod score of 2.92 at theta = 0). Molecular Genetics In all affected members of a Chinese family segregating autosomal dominant atrial fibrillation, Chen et al. (2003) identified a ser140-to-gly mutation (S140G; 607542.0032) in the KCNQ1 gene.
A number sign (#) is used with this entry because of evidence that familial atrial fibrillation-13 (ATFB13) is caused by heterozygous mutation in the SCN1B gene (600235) on chromosome 19q13. Description Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke (Brugada et al., 1997). For a discussion of genetic heterogeneity of familial atrial fibrillation, see ATFB1 (608583).
Description Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke (Brugada et al., 1997). For a discussion of genetic heterogeneity of atrial fibrillation, see 608583. Mapping Gudbjartsson et al. (2009) expanded the genomewide association study on atrial fibrillation in Iceland, which had identified risk variants on 4q25 (see 611494), and tested the most significant associations in samples from Iceland, Norway, and the United States.
Familial atrial fibrillation is an inherited abnormality of the heart's normal rhythm. Atrial fibrillation is characterized by episodes of uncoordinated electrical activity (fibrillation) in the heart's upper chambers (the atria), which cause a fast and irregular heartbeat. If untreated, this abnormal heart rhythm (arrhythmia) can lead to dizziness, chest pain, a sensation of fluttering or pounding in the chest (palpitations), shortness of breath, or fainting (syncope). Atrial fibrillation also increases the risk of stroke and sudden death. Complications of atrial fibrillation can occur at any age, although some people with this heart condition never experience any health problems associated with the disorder.
Mapping Oberti et al. (2004) performed a genomewide scan in 36 members of a large Uruguayan family segregating autosomal recessive atrial fibrillation and obtained a peak 2-point lod score of 3.05 at marker D5S455 on chromosome 5p13 (theta = 0) using marker allele frequencies specific to the Uruguayan population. ... The maximum 2-point lod score increased to 4.04 in the expanded pedigree (theta = 0), and the maximum multipoint lod score increased to 4.40.
Description Atrial fibrillation (AF) is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke (Brugada et al., 1997). Genetic Heterogeneity of Familial Atrial Fibrillation ATFB1 shows linkage to chromosome 10q22-q24. ATFB2 (608988) maps to chromosome 6q. ATFB3 (607554) is caused by mutation in the KCNQ1 gene (607542) on chromosome 11.
A number sign (#) is used with this entry because of evidence that familial atrial fibrillation-11 (ATFB11) is caused by heterozygous mutation in the GJA5 gene (121013) on chromosome 1q21. Atrial fibrillation has also been associated with somatic mutation in the GJA5 gene. Description Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke (Brugada et al., 1997).
Echocardiography 3 years after the onset of AF revealed an ejection fraction of 55% with trace mitral and tricuspid valve regurgitation, and a left atrial diameter of 38 mm. The proband's 75-year-old father presented with syncope at 55 years of age and was found to be in atrial fibrillation; he was diagnosed with sick sinus syndrome and a pacemaker was placed.
A number sign (#) is used with this entry because of evidence that familial atrial fibrillation-18 (ATFB18) is caused by mutation in the MYL4 gene (160770) on chromosome 17q21. One such family has been reported. For a general phenotypic description and a discussion of genetic heterogeneity of atrial fibrillation, see ATFB1 (608583). Clinical Features Orr et al. (2016) studied a 3-generation family with atrial fibrillation (AF), conduction disease, and reduced left atrial function. The proband was a 32-year-old woman who presented at age 26 years with palpitations, at which time electrocardiography (ECG) showed atrial fibrillation with a slow ventricular rate response. During periods of sinus rhythm, extremely low amplitude P-waves and prolonged atrioventricular (AV) conduction (first-degree AV block) were observed.
Description Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke (Brugada et al., 1997). For a discussion of genetic heterogeneity of atrial fibrillation, see 608583. Mapping Gudbjartsson et al. (2007) performed a genomewide association scan followed by replication studies in 3 populations of European descent and a Chinese population from Hong Kong and found a strong association between 2 sequence variants on chromosome 4q25, rs2200733 and rs10033464, and atrial fibrillation.
Familial atrial fibrillation is an inherited heart condition that disrupts the heart's rhythm. It is characterized by erratic electrical activity in the heart's upper chambers (the atria), causing an irregular response in the heart's lower chambers (the ventricles). This causes a fast and irregular heartbeat ( arrhythmia ). Signs and symptoms may include dizziness, chest pain, palpitations , shortness of breath, or fainting. Affected people also have an increased risk of stroke and sudden death. While complications may occur at any age, some affected people never have associated health problems.
A number sign (#) is used with this entry because of evidence that familial atrial fibrillation-9 (ATFB9) is caused by heterozygous mutation in the KCNJ2 gene (600681) on chromosome 17q24.3. Description Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke (Brugada et al., 1997). For a discussion of genetic heterogeneity of atrial fibrillation, see 608583.
A number sign (#) is used with this entry because of evidence that familial atrial fibrillation-6 (ATFB6) is caused by heterozygous mutation in the NPPA gene (108780) on chromosome 1p36. Description Atrial fibrillation (AF) is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke (Brugada et al., 1997). For a discussion of genetic heterogeneity of atrial fibrillation, see 608583.
Worldwide, forty cases of Multiple Sulfatase Deficiency have been reported to date. [ citation needed ] Causes [ edit ] Multiple sulfatase deficiency is thought to be caused by any mutation of the SUMF1 gene which would render its protein product, the formylglycine-generating enzyme (FGE), defective. [10] [11] These mutations result in inactive forms of FGE. [12] This enzyme is required for posttranslational modification of a cysteine residue in the sulfatase enzyme active site into formylglycine, [13] which is required for its proper function. [14] Genetics [ edit ] MSD has an autosomal recessive inheritance pattern. [2] : 561 The inheritance probabilities per birth are as follows: If both parents are carriers: 25% (1 in 4) children will have the disorder 50% (2 in 4) children will be carriers (but unaffected) 25% (1 in 4) children will be free of MSD - unaffected child that is not a carrier If one parent is affected and one is free of MSD: 0% (0) children will have the disorder - only one parent is affected, other parent always gives normal gene 100% (4 in 4) children will be carriers (but unaffected) If one parent is a carrier and the other is free of MSD: 50% (2 in 4) children will be carriers (but unaffected) 50% (2 in 4) children will be free of MSD - unaffected child that is not a carrier Diagnosis [ edit ] This section is empty. ... Andrews' Diseases of the Skin: Clinical Dermatology . (10th ed.). Saunders. ISBN 0-7216-2921-0 . ^ Dierks, T; Schmidt, B; Borissenko, Lv; Peng, J; Preusser, A; Mariappan, M; Von, Figura K (May 2003). ... Fitzpatrick's Dermatology in General Medicine . (6th ed.). McGraw-Hill. ISBN 0-07-138076-0 . ^ Schmidt, B; Selmer, T; Ingendoh, A; Von, Figura K (July 1995). ... "Multiple sulfatase deficiency". Neurology . 38 (8): 1273–5. doi : 10.1212/wnl.38.8.1273 .
Summary Clinical characteristics. Initial symptoms of multiple sulfatase deficiency (MSD) can develop from infancy through early childhood, and presentation is widely variable. Some individuals display the multisystemic features characteristic of mucopolysaccharidosis disorders (e.g., developmental regression, organomegaly, skeletal deformities) while other individuals present primarily with neurologic regression (associated with leukodystrophy). Based on age of onset, rate of progression, and disease severity, several different clinical subtypes of MSD have been described: Neonatal MSD is the most severe with presentation in the prenatal period or at birth with rapid progression and death occurring within the first two years of life. Infantile MSD is the most common variant and may be characterized as attenuated (slower clinical course with cognitive disability and neurodegeneration identified in the 2nd year of life) or severe (loss of the majority of developmental milestones by age 5 years). Juvenile MSD is the rarest subtype with later onset of symptoms and subacute clinical presentation.
Multiple sulfatase deficiency is a lysosomal storage disorder that mainly affects the brain, skin, and skeleton. The signs and symptoms of this condition vary widely, prompting researchers to divide it into three types: neonatal, late-infantile, and juvenile. The neonatal type is the most severe form, with symptoms developing soon after birth. The late-infantile type is the most common form and usually presents as progressive loss of mental abilities and movement after a period of normal development. The juvenile type is rare, with a slow regression of psychomotor development in mid to late childhood.
Multiple sulfatase deficiency (MSD) is a very rare and fatal lysosomal storage disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not) that can have neonatal (most severe), infantile (most common) and juvenile (rare) presentations with manifestations including hypotonia, coarse facial features, mild deafness, skeletal anomalies, ichthyosis, hepatomegaly, developmental delay, progressive neurologic deterioration and hydrocephalus.
Multiple sulfatase deficiency is a condition that mainly affects the brain, skin, and skeleton. Because the signs and symptoms of multiple sulfatase deficiency vary widely, researchers have split the condition into three types: neonatal, late-infantile, and juvenile. The neonatal type is the most severe form, with signs and symptoms appearing soon after birth. Affected individuals have deterioration of tissue in the nervous system (leukodystrophy), which can contribute to movement problems, seizures, developmental delay, and slow growth. They also have dry, scaly skin (ichthyosis) and excess hair growth (hypertrichosis).
John Wiley & Sons. p. 11. ISBN 978-0-470-06638-6 . ^ Ann-Louise Shapiro (1996). ... Stanford University Press. p. 100. ISBN 0-8047-2693-0 . ^ Daniel Hack Tuke (1892). ... Cornell University Press. p. 48. ISBN 0-8014-4410-1 . ^ Anthony J. Close (1990). ... Houghton Mifflin Harcourt. p. 338. ISBN 0-15-662769-8 . ^ Richard A Clarke (2004). ... McGraw-Hill Professional. p. 226. ISBN 0-8442-8393-2 . ^ Susan Bordo (1996).
