アッカーマン症候群
WordNet
- a pattern of symptoms indicative of some disease
- a complex of concurrent things; "every word has a syndrome of meanings"
PrepTutorEJDIC
- (疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2016/01/10 05:44:56」(JST)
[Wiki en表示]
| Ackerman syndrome |
| Classification and external resources |
| OMIM |
200970 |
Ackerman syndrome is a familial syndrome of fused molar roots with a single canal (taurodontism), hypotrichosis, full upper lip without a cupid’s bow, thickened and wide philtrum, and occasional juvenile glaucoma.[1] It was described by James L. Ackerman, A. Leon Ackerman, and A. Bernard Ackerman [2]
It can also refer to interstitial granulomatous dermatitis.[3][4]
References
- ^ Ackerman JL, Ackerman AL, Ackerman AB (1973). "Taurodont, pyramidal and fused molar roots associated with other anomalies in a kindred". Am. J. Phys. Anthropol. 38 (3): 681–94. doi:10.1002/ajpa.1330380305. PMID 4349385.
- ^ Ackerman JL, Ackerman AL, Ackerman AB (1973). "A New Dental, Ocular and Cutaneous Syndrome". International Journal of Dermatology 12 (5): 285–89. doi:10.1111/j.1365-4362.1973.tb00056.x.
- ^ Busquets-Pérez N, Narvaez J, Valverde-García J (2006). "Interstitial granulomatous dermatitis with arthritis (Ackerman syndrome)". J. Rheumatol. 33 (6): 1207–9. PMID 16755676.
- ^ Kroesen S, Itin PH, Hasler P (2003). "Arthritis and interstitial granulomatous dermatitis (Ackerman syndrome) with pulmonary silicosis". Semin. Arthritis Rheum. 32 (5): 334–40. doi:10.1053/sarh.2003.50016. PMID 12701044.
External links
- synd/133 at Who Named It?
English Journal
- Sympathetic nerve activity and simulated diving in healthy humans.
- Shamsuzzaman A1, Ackerman MJ2, Kuniyoshi FS2, Accurso V2, Davison D2, Amin RS3, Somers VK2.Author information 1Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA; Mayo Clinic, Rochester, MN, USA. Electronic address: Abu.Shamsuzzaman@cchmc.org.2Mayo Clinic, Rochester, MN, USA.3Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.AbstractThe goal of our study was to develop a simple and practical method for simulating diving in humans using facial cold exposure and apnea stimuli to measure neural and circulatory responses during the stimulated diving reflex. We hypothesized that responses to simultaneous facial cold exposure and apnea (simulated diving) would be synergistic, exceeding the sum of responses to individual stimuli. We studied 56 volunteers (24 female and 32 male), average age of 39years. All subjects were healthy, free of cardiovascular and other diseases, and on no medications. Although muscle sympathetic nerve activity (MSNA), blood pressure, and vascular resistance increased markedly during both early and late phases of simulated diving, significant reductions in heart rate were observed only during the late phase. Total MSNA during simulated diving was greater than combined MSNA responses to the individual stimuli. We found that simulated diving is a powerful stimulus to sympathetic nerve traffic with significant bradycardia evident in the late phase of diving and eliciting synergistic sympathetic and parasympathetic responses. Our data provide insight into autonomic triggers that could help explain catastrophic cardiovascular events that may occur during asphyxia or swimming, such as in patients with obstructive sleep apnea or congenital long QT syndrome.
- Autonomic neuroscience : basic & clinical.Auton Neurosci.2014 Apr;181:74-8. doi: 10.1016/j.autneu.2013.12.001. Epub 2013 Dec 12.
- The goal of our study was to develop a simple and practical method for simulating diving in humans using facial cold exposure and apnea stimuli to measure neural and circulatory responses during the stimulated diving reflex. We hypothesized that responses to simultaneous facial cold exposure and apn
- PMID 24368150
- Loss-of-function of the Voltage-gated Sodium Channel NaV1.5 (Channelopathies) in Patients with Irritable Bowel Syndrome.
- Beyder A1, Mazzone A1, Strege PR1, Tester DJ2, Saito YA1, Bernard CE1, Enders FT3, Ek WE4, Schmidt PT5, Dlugosz A5, Lindberg G5, Karling P6, Ohlsson B7, Gazouli M8, Nardone G9, Cuomo R10, Usai-Satta P11, Galeazzi F12, Neri M13, Portincasa P14, Bellini M15, Barbara G16, Camilleri M1, Locke GR 3rd1, Talley NJ1, D'Amato M4, Ackerman MJ17, Farrugia G18.Author information 1Enteric Neuroscience Program, Division of Gastroenterology &Hepatology, Department of Physiology & Biomedical Engineering, Mayo Clinic, Rochester, Minnesota.2Departments of Medicine (Cardiovascular Diseases), Pediatrics (Pediatric Cardiology), and Molecular Pharmacology & Experimental Therapeutics and the Windland Smith Rice, Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, Minnesota.3Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota.4Department of Biosciences and Nutrition, Karolinska Institutet, Stockholm, Sweden.5Department of Gastroenterology and Hepatology, Karolinska University Hospital, Karolinska Institutet, Stockholm, Sweden.6Department of Medicine, Umeå University, Umeå, Sweden.7Department of Clinical Sciences, Skånes University Hospital, Malmoe, Sweden.8Laboratory of Biology, School of Medicine, University of Athens, Athens, Greece.9Gastroenterology Unit, Department of Clinical Medicine and Surgery, University Federico II, Naples, Italy.10Digestive Motility Diseases, Department of Clinical Medicine and Surgery, Federico II University Hospital, Naples, Italy.11S.C. Gastroenterologia, Azienda Ospedaliera G. Brotzu, Cagliari, Italy.12UOC Gastroenterologia, Padova University Hospital, Padova, Italy.13Department of Medicine and Aging Sciences and CESI, G. D'Annunzio University & Foundation, Chieti, Italy.14Department of Biomedical Sciences and Human Oncology (DIMO), Clinica Medica 'A. Murri', University of Bari Medical School, Bari, Italy.15Gastroenterology Unit, Department of Gastroenterology, University of Pisa, Pisa, Italy.16Department of Medical and Surgical Sciences, University of Bologna, St. Orsola - Malpighi Hospital, Bologna, Italy.17Departments of Medicine (Cardiovascular Diseases), Pediatrics (Pediatric Cardiology), and Molecular Pharmacology & Experimental Therapeutics and the Windland Smith Rice, Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, Minnesota. Electronic address: ackerman.michael@mayo.edu.18Enteric Neuroscience Program, Division of Gastroenterology &Hepatology, Department of Physiology & Biomedical Engineering, Mayo Clinic, Rochester, Minnesota. Electronic address: farrugia.gianrico@mayo.edu.AbstractBACKGROUND & AIMS: SCN5A encodes the α-subunit of the voltage-gated sodium channel NaV1.5. Many patients with cardiac arrhythmias caused by mutations in SCN5A also have symptoms of irritable bowel syndrome (IBS). We investigated whether patients with IBS have SCN5A variants that affect the function of Nav1.5.
- Gastroenterology.Gastroenterology.2014 Mar 5. pii: S0016-5085(14)00297-2. doi: 10.1053/j.gastro.2014.02.054. [Epub ahead of print]
- BACKGROUND & AIMS: SCN5A encodes the α-subunit of the voltage-gated sodium channel NaV1.5. Many patients with cardiac arrhythmias caused by mutations in SCN5A also have symptoms of irritable bowel syndrome (IBS). We investigated whether patients with IBS have SCN5A variants that affect the func
- PMID 24613995
- Etiologies of Sudden Cardiac Death in National Collegiate Athletic Association Athletes.
- Harmon KG1, Drezner JA, Maleszewski JJ, Lopez-Anderson M, Owens D, Prutkin JM, Asif IM, Klossner D, Ackerman MJ.Author information 11Department of Family Medicine, University of Washington, Seattle, WA.AbstractBACKGROUND: -The etiology of sudden cardiac death (SCD) in college athletes has not been defined by systematic case identification.
- Circulation. Arrhythmia and electrophysiology.Circ Arrhythm Electrophysiol.2014 Mar 1. [Epub ahead of print]
- BACKGROUND: -The etiology of sudden cardiac death (SCD) in college athletes has not been defined by systematic case identification.METHODS AND RESULTS: -45 cases of SCD were identified in National Collegiate Athletic Association (NCAA) athletes from 2004 - 2008 based on an internal reporting system
- PMID 24585715
Japanese Journal
- 船津 栄,白井 京美,田辺 健一,新井 達,勝岡 憲生
- 日本皮膚科学会雑誌 123(4), 433-438, 2013
- 1970年から2007年の38年間に当科を受診した混合性結合組織病（Mixed connective tissue disease；MCTD）の患者23名（男2名，女21名）を対象に，その皮膚症状の特徴について検討を行った．平均発症年齢は29歳±9.9歳で，約半数（23人中11人）が20歳代にMCTDを発症しており，既報告よりも若年に発症する例が多くみられた．便宜的に皮膚症状を11項目に分類し，臨 …
- NAID 130004702069
- 基底細胞母斑症候群に生じた infundibulocystic basal cell carcinoma の 1 例
- 山本 純照,榎本 美生,多田 英之,福本 隆也,宮川 幸子
- 日本皮膚科学会雑誌 117(2), 153-157, 2007
- … はあったが，毛球および毛乳頭構造はなかった．腫瘍塊内には角化性囊腫があり，囊腫壁は毛包漏斗部の上皮に類似した細胞により構成されていた．以上からこの腫瘍を，近年稀な基底細胞癌の一型として Ackerman らによって報告された infundibulocystic basal cell carcinoma と診断した．infundibulocystic basal cell carcinoma は最初の報告以来，その病理診断において，毛包上皮腫などとの異同が議論されてきたが，自験例は基底細胞母 …
- NAID 130004708504
- Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals : implications for arrhythmogenic susceptibility and Brugada/long QT syndrome genetic testing
Related Links
- Ackerman syndrome information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, and prognosis. ... Ackerman syndrome: Introduction Ackerman syndrome: An extremely ...
- Ackerman et al. (1973) described a kindred in which a sister and 2 brothers had pyramidal molar roots. The 2 brothers had juvenile glaucoma and all 6 members of their sibship were said to have an unusual morphology of the upper lip ...
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