Abstract:
:A tired 32-year-old woman complaining of tiredness was referred for work-up of a possible immune deficiency. She had a history of recurrent infections since birth, which usually responded to antibiotics within a few days. Her mother, a nurse, had reported that early charts had disappeared. Munchausen's by proxy was suspected for years. Careful anamnesis indicated possible recurrent fever. Serum IgD levels were high, which led us to suspect Hyper IgD Syndrome. Sequencing of the mevalonate kinase gene revealed 2 mutations, leading to amino acid substitutions: one already described (V3771) and R40W: never reported before. Mevalonate kinase activity was very low in the patient's peripheral blood cells. We used the "Poly Phen" prediction program successfully. Our experiments confirmed the diagnosis of mevalonate kinase deficiency. We used steroids to abort recurrent crises.
journal_name
Acta Clin Belgjournal_title
Acta clinica Belgicaauthors
Farber CM,Wanders JA,Goffard JC,Parma Jdoi
10.2143/ACB.66.2.2062531subject
Has Abstractpub_date
2011-03-01 00:00:00pages
129-31issue
2eissn
1784-3286issn
2295-3337journal_volume
66pub_type
杂志文章abstract:INTRODUCTION:In many health care systems, strategies are currently deployed to engage patients and other stakeholders in decisions affecting hospital services. In this paper, a model for stakeholder involvement is presented and evaluated in three Flemish hospitals. In the model, a stakeholder committee advises the hosp...
journal_title:Acta clinica Belgica
pub_type: 杂志文章
doi:10.1080/17843286.2016.1246681
更新日期:2017-02-01 00:00:00
abstract::Diabetes is currently one of the leading causes of end-stage renal failure requiring renal replacement therapy in the Western World. About 15% to 20% of type 1 diabetic patients and 30% to 40% of type 2 diabetic patients will eventually develop end-stage renal failure. To prevent the development or progression of diab...
journal_title:Acta clinica Belgica
pub_type: 杂志文章,评审
doi:10.1179/acb.2007.043
更新日期:2007-09-01 00:00:00
abstract::Background: Metastatic clear-cell renal cell carcinoma (m-ccRCC) patients with bone metastases (BM) treated with vascular endothelial growth factor receptor (VEGFR) tyrosine kinase inhibitors (TKI) have a poorer outcome compared to patients without BM. We aimed to investigate whether an increased incidence of VEGFR-TK...
journal_title:Acta clinica Belgica
pub_type: 杂志文章
doi:10.1080/17843286.2018.1551744
更新日期:2019-12-01 00:00:00
abstract:OBJECTIVE:To assess the diagnostic performance of the CAGE and AUDIT (Alcohol Use Disorder Identification Test) and its derivatives, and laboratory tests for screening alcohol abuse or dependence in a male medical hospital population. DESIGN:A diagnostic cross-sectional prevalence study. SETTING:Three general hospita...
journal_title:Acta clinica Belgica
pub_type: 杂志文章
doi:10.1179/acb.2002.048
更新日期:2002-09-01 00:00:00
abstract:OBJECTIVES:This study aims to evaluate the clinical outcome of fibrinolytic treatment of prosthetic valve thrombosis (PVT) with 'streptokinase' as a first line treatment for these cases. METHODS:The study group was 20 consecutive patients (10 females) diagnosed with PVT. The protocol for streptokinase administration w...
journal_title:Acta clinica Belgica
pub_type: 杂志文章
doi:10.1179/2295333714Y.0000000107
更新日期:2015-06-01 00:00:00
abstract::Objective and importance: The antiphospholipid syndrome can manifest itself by silent (or not) myocardial infarction. Clinical presentation: We report the case of a 16-year-old girl who presented a myocardial infarction for whom a coronary-computer tomography did not reveal any coronary abnormalities or obstruction. S...
journal_title:Acta clinica Belgica
pub_type: 杂志文章
doi:10.1080/17843286.2018.1516182
更新日期:2019-10-01 00:00:00
abstract::We report a case of aneurysm of the abdominal aorta with spontaneous rupture in a 64-year-old man with emphysema and chronic alcoholism. Campylobacter fetus subspecies fetus was repeatedly recovered from the blood and from specimens of the excised aneurysm. The patient died in spite of early diagnosis, intravenous ery...
journal_title:Acta clinica Belgica
pub_type: 杂志文章,评审
doi:10.1080/17843286.1989.11717999
更新日期:1989-01-01 00:00:00
abstract:OBJECTIVE:We previously validated uHear™ to screen for hearing loss in older patients with cancer without a known hearing loss, as part of a comprehensive geriatric assessment (CGA). In view of low specificity, we tested a new modified uHear™ scoring system as described by Handzel. METHODS:Patients, aged ≥70 years, we...
journal_title:Acta clinica Belgica
pub_type: 杂志文章
doi:10.1080/17843286.2017.1392070
更新日期:2018-04-01 00:00:00
abstract::Mastocytosis is a heterogeneous disease caused by excessive mast cell (MC) proliferation. Diagnosis of systemic mastocytosis (SM) is based on the presence of major and minor criteria defined by the World Health Organization. Symptoms of MC activation can also occur in patients without SM or without allergic or inflamm...
journal_title:Acta clinica Belgica
pub_type: 杂志文章
doi:10.1080/17843286.2017.1293312
更新日期:2017-04-01 00:00:00
abstract::Cystic fibrosis (CF) is one of the most common hereditary lung diseases. Pseudomonas aeruginosa (PA), Aspergillus fumigatus (AF) and Candida albicans (CA) are the principal bacterial and fungal pathogens in the airways of CF patients. The interactions of coexisting bacterial-fungal pathogens are of great interest. In ...
journal_title:Acta clinica Belgica
pub_type: 杂志文章
doi:10.1080/17843286.2020.1852850
更新日期:2020-11-26 00:00:00
abstract::Intradural spinal arachnoid cysts are a relatively uncommon lesion that may be either intra, or extradural, and intradural spinal arachnoid cysts are even less common. Arachnoid cysts are cerebrospinal fluid collections in the spine that can present with neurological symptoms. The objective of this paper is to describ...
journal_title:Acta clinica Belgica
pub_type: 杂志文章
doi:10.1080/17843286.2016.1139288
更新日期:2016-08-01 00:00:00
abstract::The authors analyse the bacteriological data gathered by 100 successive tracheal Punctures and compare these results to those obtained by sputum cultures, which had either been collected by routine or when withdrawing the catheter for tracheal aspiration. This plain and not hazardous technique allows to draw the follo...
journal_title:Acta clinica Belgica
pub_type: 杂志文章
doi:10.1080/17843286.1971.11716773
更新日期:1971-01-01 00:00:00
abstract::Objectives: Water and electrolytes disturbances often occur in renal transplant recipients. The objective is to describe the pathophysiology and the treatment of the most prevalent abnormalities. Methods: We screened PubMed for the following words in various combination: kidney transplantation and (disturbances or abn...
journal_title:Acta clinica Belgica
pub_type: 杂志文章
doi:10.1080/17843286.2018.1549193
更新日期:2019-02-01 00:00:00
abstract:BACKGROUND:Immunotherapy represents a recent milestone in the treatment of lung cancer, particularly with the rapidly expanding development of monoclonal antibodies targeting checkpoint inhibitors in the programmed cell death-1 (PD-1) pathway, such as nivolumab and pembrolizumab. Classical auto-immune side effects of t...
journal_title:Acta clinica Belgica
pub_type: 杂志文章
doi:10.1080/17843286.2019.1629078
更新日期:2020-08-01 00:00:00
abstract::The authors report an observation of Wegener's granulomatosis with pulmonary, bronchial, renal, cutaneous and sinusal involvement. Five years ago, the patient was referred to us because of bilateral diffuse pulmonary infiltrates of unknown origin. A corticotherapy was introduced at that time and a complete clearance o...
journal_title:Acta clinica Belgica
pub_type: 杂志文章,评审
doi:10.1080/17843286.1995.11718464
更新日期:1995-01-01 00:00:00
abstract::We report the case of a 60-year-old man who presented with sudden visual loss, a history of postprandial abdominal pain, malabsorption, and skin lesions typical of systemic Degos' disease. Despite anti-aggregants and prednisone the patient's status did not improve. On the basis of the hypothetical dysimmune origin of ...
journal_title:Acta clinica Belgica
pub_type: 杂志文章
doi:10.1179/acb.2008.63.2.007
更新日期:2008-03-01 00:00:00
abstract::The term "microvesicular steatosis of the liver" refers to a variant form of hepatic fat accumulation whose histologic features contrast with the much more common macrovesicular steatosis. Microvesicular steatosis of the liver was originally described in association with conditions who share a number of biochemical an...
journal_title:Acta clinica Belgica
pub_type: 杂志文章,评审
doi:10.1080/17843286.1990.11718105
更新日期:1990-01-01 00:00:00
abstract::Elevated intra-abdominal pressure (IAP) exerts effects not only on intra-abdominal organs, but also on organs distant to the abdominal compartment. Abdomino-thoracic interaction during intra-abdominal hypertension (IAH) or abdominal compartment syndrome (ACS) interferes with pulmonary, cardiovascular and cerebral func...
journal_title:Acta clinica Belgica
pub_type: 杂志文章,评审
doi:
更新日期:2007-01-01 00:00:00
abstract::Central venous catheters are widely used in clinical practice. Air embolism is a rare, but potentially life threatening complication of central venous catheterisation. We describe a case of collapse and transient hemiplegia after removal of central venous catheter. This was accidentally performed with the patient in u...
journal_title:Acta clinica Belgica
pub_type: 杂志文章
doi:10.1179/acb.2010.009
更新日期:2010-01-01 00:00:00
abstract::Exhaustion of antigen-specific T-cells in order to escape immune destruction is frequently seen in chronic viral infection and different types of cancer. Blockade of overexpressed negative co-stimulatory pathways, a process known as immune checkpoint modulation, is a promising novel therapy that could improve the trea...
journal_title:Acta clinica Belgica
pub_type: 杂志文章
doi:10.1080/17843286.2020.1741897
更新日期:2020-03-17 00:00:00
abstract::Background Evidence of diagnostic accuracy for proposed definitions of nocturnal polyuria is currently unclear. Purpose Systematic review to determine population-based evidence of the diagnostic accuracy of proposed definitions of nocturnal polyuria based on data from frequency-volume charts. Methods Seventeen pre-spe...
journal_title:Acta clinica Belgica
pub_type: 杂志文章
doi:10.1080/17843286.2018.1427821
更新日期:2018-08-01 00:00:00
abstract::Background/aim: To determine insulin sensitivity before chemotherapy and during febrile neutropenia in patients with acute leukemia and to assess its effect on the number of documented infections, the severity of infection and the outcome of the first hospitalization. To compare insulin sensitivity in the study group ...
journal_title:Acta clinica Belgica
pub_type: 杂志文章
doi:10.1080/17843286.2018.1534577
更新日期:2019-12-01 00:00:00
abstract::Introduction:Antisynthetase syndrome (ASSD) is a rare auto-immune condition that can present as interstitial lung disease (ILD) and progress into Acute Respiratory Distress Syndrome (ARDS). Importance:The purpose of this clinical case is to highlight the importance of considering less prevalent causes of ARDS amid the...
journal_title:Acta clinica Belgica
pub_type: 杂志文章
doi:10.1080/17843286.2021.1872312
更新日期:2021-01-15 00:00:00
abstract::Coronary artery disease is frequently associated with disturbed blood lipids and with a deficient blood fibrinolytic capacity. In order to investigate a possible link between hypercholesterolemia and hypofibrinolysis, we have investigated the effect of simvastatin, a HMG-CoA reductase inhibitor, on blood lipids and fi...
journal_title:Acta clinica Belgica
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1080/17843286.1992.11718214
更新日期:1992-01-01 00:00:00
abstract::The differential diagnosis between hypertonic, isotonic and hypotonic hyponatremia are presented. The help of some usual serum (urea, uric acid and TCO2) and urine parameters (mainly osmolality and sodium concentration) are discussed and help to determine the best treatment. Morbidity associated with untreated hyponat...
journal_title:Acta clinica Belgica
pub_type: 杂志文章
doi:10.1080/17843286.2018.1531616
更新日期:2019-02-01 00:00:00
abstract::P-glycoprotein, a pump located in the plasma cell membrane, extrudes several clinically important drugs from the cell, and hence causes multidrug resistance. Reversing clinical drug resistance is possible by using agents that inhibit the activity of P-glycoprotein. We describe the results of sequential flow cytometric...
journal_title:Acta clinica Belgica
pub_type: 杂志文章
doi:10.1080/17843286.2000.11754299
更新日期:2000-07-01 00:00:00
abstract::Erysipelothrix rhusiopathiae is a rare cause of endocarditis. Most cases were observed in people working with animals. We report a case in a 45-year old man without any exposure to animals. He was admitted to our hospital because of dyspnoea. Blood cultures were drawn following fever on day 8 of hospitalisation. Erysi...
journal_title:Acta clinica Belgica
pub_type: 杂志文章
doi:10.1179/acb.2003.58.6.006
更新日期:2003-11-01 00:00:00
abstract::The last two decades have witnessed that flow-assisted analysis of in vitro-activated basophils can constitute a valuable adjunct in the in vitro diagnostic approach of immediate drug hypersensitivity reactions (IDHR). This article summarises the current experience with the basophil activation test in the diagnosis of...
journal_title:Acta clinica Belgica
pub_type: 杂志文章,评审
doi:10.1080/17843286.2015.1122871
更新日期:2016-02-01 00:00:00
abstract:OBJECTIVE:To investigate the effect of one year continuous positive airway pressure (CPAP) treatment on metabolic syndrome (MS) prevalence and components in patients diagnosed with both obstructive sleep apnea syndrome (OSAS) and metabolic syndrome. METHODS:This was a single center, observational prospective cohort st...
journal_title:Acta clinica Belgica
pub_type: 杂志文章
doi:10.1179/acb.2009.051
更新日期:2009-07-01 00:00:00
abstract:BACKGROUND:Altered iron metabolism plays a central role in the development of anaemia in critically ill patients but the time course of iron status in septic and non-septic critically ill patients has not been well defined. METHODS:Prospective study in a 34-bed medico-surgical ICU. The complete blood count, iron, ferr...
journal_title:Acta clinica Belgica
pub_type: 杂志文章
doi:10.2143/ACB.68.1.2062715
更新日期:2013-01-01 00:00:00