Identification of a MAFB mutation in a patient with multicentric carpotarsal osteolysis.

Abstract:

:Multicentric carpotarsal osteolysis (MCTO) is an autosomal dominant disease of the skeleton characterised by progressive destruction of carpal and tarsal bones. Recently, it has been demonstrated that this disease is caused by heterozygous mutations in the gene for the transcriptional repressor MAFB. We analysed genomic DNA and RNA from leucocytes of a female patient diagnosed with MCTO. We identified the mutation c.161C>T in the genomic sequence and in the expressed messenger RNA for MAFB. This is the second report of the c.161C>T mutation in a MCTO patient. Since the parents do not possess this mutation, the daughter must have acquired a de novo mutation. At the level of the gene, this mutation is found at a CpG dinucleotide sequence, suggesting that DNA methylation was involved in the occurrence of the DNA aberration. At the level of the protein, the mutation exchanges a serine with a leucine residue at a position on MAFB that can become phosphorylated in the wild-type protein. MAFB negatively regulates the RANKL-dependent differentiation of monocytes into osteoclasts. It is likely that the mutation will affect the phosphorylation status of the protein and its biological activity. When the activity of the transcriptional repressor is reduced, osteoclastogenesis will be increased, which might explain the carpotarsal bone destruction observed in the patient.

journal_name

Swiss Med Wkly

journal_title

Swiss medical weekly

authors

Zhuang L,Adler S,Aeberli D,Villiger PM,Trueb B

doi

10.4414/smw.2017.14529

subject

Has Abstract

pub_date

2017-10-27 00:00:00

pages

w14529

eissn

1424-7860

issn

1424-3997

pii

smw-14529

journal_volume

147

pub_type

杂志文章
  • Physical activity behaviour in patients with metabolic syndrome.

    abstract:STUDY/PRINCIPLES:Physical activity improves the clinical course of the metabolic syndrome and its risk factors. The aim of this study was to investigate the physical activity behaviour in patients with metabolic syndrome in regard to the recommendation of the Federal Offices of Public Health (BAG) and Sports (BASPO): "...

    journal_title:Swiss medical weekly

    pub_type: 杂志文章

    doi:10.4414/smw.2012.13691

    authors: Murer M,Schmied C,Battegay E,Keller DI

    更新日期:2012-10-25 00:00:00

  • Gender and the relationship between traumatic childhood experiences and pain in adulthood.

    abstract:OBJECTIVES AND METHODS:Gender differences regarding 17 childhood experiences, thought to have traumatising potential (Traumatic Childhood Experiences = TCE), and pain behaviour in adulthood were assessed using a self-administered, anonymously filled-out questionnaire. Patients were consecutively accrued in the offices ...

    journal_title:Swiss medical weekly

    pub_type: 杂志文章

    doi:2006/39/smw-11357

    authors: Unternährer I,Minder CE,Adler RH

    更新日期:2006-09-30 00:00:00

  • Improved results after lung transplantation--analysis of factors.

    abstract::Better recipient selection, sophisticated postoperative surveillance and new immunosuppressive and anti-infective regimens can improve the results of lung transplantation. We compared the results of lung transplants performed between 1992 and 1996 (early period; 47) and between 1997 and 2000 (recent period; 46) in a c...

    journal_title:Swiss medical weekly

    pub_type: 杂志文章

    doi:2001/17/smw-09718

    authors: Speich R,Boehler A,Zalunardo MP,Stocker R,Russi EW,Weder W

    更新日期:2001-05-05 00:00:00

  • Congenital tuberculosis in a premature infant.

    abstract::Congenital tuberculosis was first suspected in a premature infant with patent ductus arteriosus (PDA), progressive respiratory distress and septic shock, when an enlarged mediastinal lymph node was noted intraoperatively at the time of PDA ligature. Culture revealed Mycobacterium tuberculosis. The asymptomatic mother ...

    journal_title:Swiss medical weekly

    pub_type: 杂志文章

    doi:2002/41/smw-10101

    authors: Stähelin-Massik J,Carrel T,Duppenthaler A,Zeilinger G,Gnehm HE

    更新日期:2002-11-23 00:00:00

  • Additional malignancies in patients with neuroendocrine tumours: analysis of the SwissNET registry.

    abstract:PRINCIPLES:Neuroendocrine neoplasms (NENs) are believed to be associated with an increased risk for additional malignancies (AMs). We aimed to (1) assess the occurrence of AM in NEN patients (2) investigate the characteristics and temporal relationship of NEN patients with and without AM. METHODS:The SwissNET registry...

    journal_title:Swiss medical weekly

    pub_type: 杂志文章

    doi:10.4414/smw.2016.14362

    authors: Kollár A,Blank A,Perren A,Bütikofer L,Stettler C,Christ E

    更新日期:2016-11-12 00:00:00

  • Therapist-client sex in psychotherapy: attitudes of professionals and students towards ethical arguments.

    abstract:INTRODUCTION:Data suggest that a substantial proportion of psychotherapists engage in therapist-client sex (TCS), violating national and international ethical guidelines. The objective of our study was to find a new and effective starting point for preventive interventions. METHOD:Using an online questionnaire, this s...

    journal_title:Swiss medical weekly

    pub_type: 杂志文章

    doi:10.4414/smw.2015.14099

    authors: Hollwich S,Franke I,Riecher-Rössler A,Reiter-Theil S

    更新日期:2015-02-04 00:00:00

  • Attitudes towards organ donation and relation to wish to donate posthumously.

    abstract:BACKGROUND:Organs donated for transplantation remain a scarce resource in Switzerland. One of the reasons for this situation is the high percentage of patients or families who refuse to consent to donation. This study aimed to provide an overview of attitudes towards organ donation among Swiss residents, including any ...

    journal_title:Swiss medical weekly

    pub_type: 杂志文章

    doi:10.4414/smw.2017.14401

    authors: Weiss J,Shaw D,Schober R,Abati V,Immer FF,Comité National du Don d'Organes Cndo

    更新日期:2017-02-03 00:00:00

  • APOE epsilon status in Hungarian patients with primary progressive multiple sclerosis.

    abstract:PRINCIPLES:Apolipoprotein E (ApoE), an important glycoprotein in the transport, uptake and redistribution of cholesterol, is necessary in nerve tissue repair. The APOE gene (APOE) is involved in neurodegenerative diseases, the best-known association being that between the APOE ε4 allele and Alzheimer's disease. Multipl...

    journal_title:Swiss medical weekly

    pub_type: 杂志文章,多中心研究

    doi:10.4414/smw.2010.13119

    authors: Losonczi E,Bencsik K,Fricska Nagy Z,Honti V,Szalczer E,Rajda C,Illés Z,Mátyás K,Rózsa C,Csépány T,Füvesi J,Vécsei L

    更新日期:2010-11-26 00:00:00

  • Illuminating human health through cell mechanics.

    abstract::Cells reside in mechanically rich and dynamic microenvironments, and the complex interplay between mechanics and biology is widely acknowledged. Recent research has yielded insights linking the mechanobiology of cells, human physiology, and pathophysiology. In particular, we have learned of the cell's astounding abili...

    journal_title:Swiss medical weekly

    pub_type: 杂志文章,评审

    doi:10.4414/smw.2013.13766

    authors: Steward RL Jr,Rosner SR,Zhou EH,Fredberg JJ

    更新日期:2013-03-14 00:00:00

  • Cost of attempted suicide: a retrospective study of extent and associated factors.

    abstract:QUESTIONS UNDER STUDY:Suicidal behaviour is a major source of burden of disease. While most studies focus on cost associated with completed suicides, data on costs of, non-lethal, suicide attempts are lacking. The aim of this study was to assess direct annual cost of suicide attempts in Basel in 2003 from a health serv...

    journal_title:Swiss medical weekly

    pub_type: 杂志文章,多中心研究

    doi:10.4414/smw.2012.13648

    authors: Czernin S,Vogel M,Flückiger M,Muheim F,Bourgnon JC,Reichelt M,Eichhorn M,Riecher-Rössler A,Stoppe G

    更新日期:2012-07-23 00:00:00

  • Aortic valve replacement using autologous pericardium: single centre experience with the Ozaki technique.

    abstract:OBJECTIVE:To assess the clinical implementation and report preliminary results of a novel technique called the Ozaki procedure for stentless aortic valve replacement through reconstruction of the valve leaflets from autologous pericardium. METHOD:Between September 2015 and May 2017 30 patients (20 males, mean ± standa...

    journal_title:Swiss medical weekly

    pub_type: 杂志文章

    doi:10.4414/smw.2018.14591

    authors: Reuthebuch O,Koechlin L,Schurr U,Grapow M,Fassl J,Eckstein FS

    更新日期:2018-02-09 00:00:00

  • Cardiac pre-competiton screening in Swiss athletes. Current situation in competitive athletes and short-time assessment of an exemplary local screening program.

    abstract:AIM OF THE STUDY:In Switzerland, screening concepts for the prevention of sports-associated sudden cardiac death are still insufficiently established in the large group of competitive athletes who are not integrated in an Olympic- or other high-level squad. The aim of the present study was to objectively determine the ...

    journal_title:Swiss medical weekly

    pub_type: 杂志文章

    doi:10.4414/smw.2012.13575

    authors: Schmied C,Notz S,Cribari M,Gähwiler R,Keller DI,Lüscher TF

    更新日期:2012-05-31 00:00:00

  • Kerley B lines in the lung apex - a distinct CT sign for pulmonary congestion.

    abstract:AIMS OF THE STUDY:The purpose of this study was to establish a new computed tomography (CT) sign for pulmonary congestion (Kerley B lines in the lung apex in patients with cardiac or renal insufficiency) and to find the best signs to differentiate between pulmonary congestion and interstitial lung disease (ILD). METHO...

    journal_title:Swiss medical weekly

    pub_type: 杂志文章

    doi:10.4414/smw.2019.20119

    authors: Loebelenz LI,Ebner L,Obmann VC,Huber AT,Christe A

    更新日期:2019-09-02 00:00:00

  • Posterior positional plagiocephaly treated with cranial remodeling orthosis.

    abstract:PRINCIPLES:Since the recommendation that infants sleep in the supine position, there has been an increase in cases of posterior positional plagiocephaly. Even though this condition is a purely cosmetic problem, if it is severe it may affect the child psychologically. Positioning may help in mild or moderate cases, but ...

    journal_title:Swiss medical weekly

    pub_type: 杂志文章

    doi:2007/25/smw-11702

    authors: de Ribaupierre S,Vernet O,Rilliet B,Cavin B,Kalina D,Leyvraz P-

    更新日期:2007-06-30 00:00:00

  • Can geriatric approaches support the care of old patients in emergency departments? A review from a Swiss ED.

    abstract::In the coming decades, old patients will account for an increasing proportion of emergency department (ED) visits. During or after their stay in the ED, they more frequently suffer adverse outcomes than younger patients. There is evidence that specific age-centred approaches improve the outcomes. We therefore reviewed...

    journal_title:Swiss medical weekly

    pub_type: 杂志文章,评审

    doi:10.4414/smw.2014.14040

    authors: Schoenenberger AW,Exadaktylos AK

    更新日期:2014-12-04 00:00:00

  • Mortality atlas of the main causes of death in Switzerland, 2008-2012.

    abstract:PRINCIPLES:Analysis of the spatial distribution of mortality data is important for identification of high-risk areas, which in turn might guide prevention, and modify behaviour and health resources allocation. This study aimed to update the Swiss mortality atlas by analysing recent data using Bayesian statistical metho...

    journal_title:Swiss medical weekly

    pub_type: 杂志文章

    doi:10.4414/smw.2016.14280

    authors: Chammartin F,Probst-Hensch N,Utzinger J,Vounatsou P

    更新日期:2016-02-22 00:00:00

  • Antibiotic misuse in medium-sized Swiss hospitals.

    abstract::Antibiotics account for a substantial proportion of hospital drug expenditures and tend to be misused or overused, generating unnecessary costs and causing the emergence of resistant bacteria. Antibiotic use was evaluated in a one-day prevalence study performed on the surgical and medical wards of eight Swiss non-univ...

    journal_title:Swiss medical weekly

    pub_type: 杂志文章

    doi:2004/33/smw-10599

    authors: Bugnon-Reber A,de Torrenté A,Troillet N,Genné D,ETUDAS group.

    更新日期:2004-08-21 00:00:00

  • Use of brain natriuretic peptide to detect previously unknown left ventricular dysfunction in patients with acute exacerbation of chronic obstructive pulmonary disease.

    abstract:BACKGROUND:Up to 30% of patients with chronic obstructive pulmonary disease (COPD) simultaneously suffer from often-unrecognised chronic heart failure (HF). Their timely identification is challenging as both conditions share similar clinical presentations. OBJECTIVE:To assess the performance of BNP in detecting left v...

    journal_title:Swiss medical weekly

    pub_type: 杂志文章

    doi:10.4414/smw.2011.13298

    authors: Gariani K,Delabays A,Perneger TV,Agoritsas T

    更新日期:2011-11-09 00:00:00

  • Prevalence and influence of diagnostic tests for acute respiratory tract infections in primary care.

    abstract:BACKGROUND:General practitioners (GPs) use diagnostic tests to help distinguish between viral and bacterial acute respiratory tract infections (ARTI). We investigated the prevalence of these tests, and how tests are associated with diagnosis, treatment and patient satisfaction. METHODS:As part of a clinical trial, 45 ...

    journal_title:Swiss medical weekly

    pub_type: 杂志文章,随机对照试验

    doi:2006/15/smw-11343

    authors: Briel M,Young J,Tschudi P,Hersberger KE,Hugenschmidt C,Langewitz W,Bucher HC

    更新日期:2006-04-15 00:00:00

  • Distribution of the functional MDR1 C3435T polymorphism in the Han population of China.

    abstract:PRINCIPLES:3435C>T, a single nucleotide polymorphism (SNP) in exon 26 of the MDR1 gene, is linked to the variability of P-gp expression and function among different individuals. It was found that ethnic differences exist in the polymorphism of the MDR1(C3435T) gene. However, the distribution of 3435C>T genotypes in the...

    journal_title:Swiss medical weekly

    pub_type: 杂志文章

    doi:2006/23/smw-11113

    authors: Li Y,Wang Y,Sun J,Li Y,Yang L

    更新日期:2006-06-10 00:00:00

  • Screening for delirium with the Intensive Care Delirium Screening Checklist (ICDSC): a re-evaluation of the threshold for delirium.

    abstract:BACKGROUND:With its high incidence and subsequent adverse consequences in the intensive care setting, several instruments have been developed to screen for and detect delirium. One of the more commonly used is the Intensive Care Delirium Screening Checklist (ICDSC); however, the optimal cut-off score indicating deliriu...

    journal_title:Swiss medical weekly

    pub_type: 杂志文章

    doi:10.4414/smw.2018.14597

    authors: Boettger S,Garcia Nuñez D,Meyer R,Richter A,Rudiger A,Schubert M,Jenewein J

    更新日期:2018-03-14 00:00:00

  • Survey of management of first-ever seizures in a hospital based community.

    abstract:BACKGROUND:Epidemiological studies focusing on first-ever seizures have been carried out mainly on community based populations. However, since hospital populations may display varying clinical features, we prospectively analysed patients with first-ever seizure in a hospital based community to evaluate prognosis and th...

    journal_title:Swiss medical weekly

    pub_type: 杂志文章

    doi:2004/39/smw-10738

    authors: Kawkabani A,Rossetti AO,Despland PA

    更新日期:2004-10-02 00:00:00

  • Current prevalence of self-reported interpersonal violence among adult patients seen at a university hospital emergency department in Switzerland.

    abstract:OBJECTIVE:To evaluate the current prevalence of self-reported interpersonal violence amongst patients consulting at the emergency department (ED) of a university hospital and to describe the characteristics of the violence sustained. METHODS:Ours was a cross-sectional study using a modified version of the Partner Viol...

    journal_title:Swiss medical weekly

    pub_type: 杂志文章

    doi:10.4414/smw.2019.20147

    authors: Douet T,Ohl A,Hügli O,Romain-Glassey N,Carron PN

    更新日期:2019-12-17 00:00:00

  • Diagnosis and treatment of mantle cell lymphoma.

    abstract::Mantle cell lymphoma (MCL) is a relatively rare lymphoma entity accounting for an estimated 3%-6% of all non-Hodgkin's lymphoma cases. Characterised by both the incurability of indolent lymphomas and the rapid growth of aggressive lymphomas, MCL has a median overall survival of only 4-5 years. Although the disease oft...

    journal_title:Swiss medical weekly

    pub_type: 杂志文章,评审

    doi:10.4414/smw.2013.13868

    authors: Hitz F,Bargetzi M,Cogliatti S,Lohri A,Taverna C,Renner C,Mey U

    更新日期:2013-11-13 00:00:00

  • High rate of completion of preventive therapy for latent tuberculosis infection among asylum seekers in a Swiss Canton.

    abstract:BACKGROUND:Preventive treatment may avoid future cases of tuberculosis among asylum seekers. The effectiveness of preventive treatment depends in large part on treatment completion. METHODS:In a prospective cohort study, asylum seekers of two of the Swiss Canton Vaud migration centres were screened with the Interferon...

    journal_title:Swiss medical weekly

    pub_type: 杂志文章

    doi:10.4414/smw.2013.13860

    authors: Sarivalasis A,Bodenmann P,Langenskiold E,Lutchmaya-Flick C,Daher O,Zellweger JP

    更新日期:2013-09-06 00:00:00

  • Prevention--a cost-effective way to fight the non-communicable disease epidemic: an academic perspective of the United Nations High-level NCD Meeting.

    abstract::The United Nations General Assembly has convened a Summit on non-communicable diseases (NCDs), an historic moment in the global combat of these disorders. Lifestyles in increasingly urban and globalised environments have led to a steep surge in NCD incidence in low and middle income countries, where two thirds of all ...

    journal_title:Swiss medical weekly

    pub_type: 杂志文章,评审

    doi:10.4414/smw.2011.13266

    authors: Probst-Hensch N,Tanner M,Kessler C,Burri C,Künzli N

    更新日期:2011-09-07 00:00:00

  • Daptomycin for highly resistant Enterococcus faecium infection.

    abstract::We report a case series of 11 patients with severe E. faecium infections treated with daptomycin. All strains were resistant to ampicillin (MIC >8 mg/l), but susceptible to vancomycin. Seven out of 11 strains were also highly resistant to gentamicin (MIC >500 mg/l). All patients were treated with multiple broad-spectr...

    journal_title:Swiss medical weekly

    pub_type: 杂志文章

    doi:10.4414/smw.2012.13603

    authors: Rosin C,Bernsmeier C,Entenza JM,Moreillon P,Frei R,Weisser M,Flückiger U

    更新日期:2012-06-26 00:00:00

  • The economic and public health impact of influenza vaccinations: contributions of Swiss pharmacies in the 2016/17 and 2017/18 influenza seasons and implications for vaccination policy

    abstract:AIMS OF THE STUDY:Healthy adults have had the option to receive prescriptionless vaccination against influenza in pharmacies of several Swiss cantons since the 2015/16 influenza season. We aimed to assess in a cost-benefit analysis the resulting net benefits for the Swiss economy and public health, and the benefits tha...

    journal_title:Swiss medical weekly

    pub_type: 杂志文章

    doi:10.4414/smw.2019.20161

    authors: Brunner I,Schmedders K,Wolfensberger A,Schreiber PW,Kuster SP

    更新日期:2019-12-17 00:00:00

  • Quality assessment of a randomly selected sample of Swiss medical expertises--a pilot study.

    abstract:BACKGROUND:Considerable criticism has lately been raised by the media regarding the quality of Swiss medical expertises. The present investigation was therefore undertaken to assess the professional quality of Swiss medical expertises. The study was part of a market analysis of medical expertises (MGS study). METHODS:...

    journal_title:Swiss medical weekly

    pub_type: 杂志文章

    doi:10.4414/smw.2011.13173

    authors: Stöhr S,Bollag Y,Auerbach H,Eichler K,Imhof D,Fabbro T,Gyr N

    更新日期:2011-03-04 00:00:00

  • Kras in metastatic colorectal cancer.

    abstract::Kras, a small intracellular GTPase, is a central intermediary of the epidermal growth factor receptor (EGFR) and other tyrosine kinase receptor pathways. Increased EGFR and Kras signalling is involved in colorectal carcinogenesis and tumour progression. Mutations of Kras result in the loss of its GTPase activity and t...

    journal_title:Swiss medical weekly

    pub_type: 杂志文章,评审

    doi:10.4414/smw.2010.13112

    authors: Wicki A,Herrmann R,Christofori G

    更新日期:2010-11-19 00:00:00