Background: Behçet’s disease (BD) shares clinical features with well-recognised autoinflammatory disorders. In addition, mutations in genes for familial Mediterranean fever and tumour necrosis factor ...receptor-associated periodic syndrome have been reported to have increased in patients with BD. Patients and methods: DNA samples from 97 patients with BD and 51 matched healthy controls were analysed for the mevalonate kinase (MVK), cold-induced autoinflammatory syndrome 1 (CIAS1) and proline/serine/threonine phosphatase-interacting protein 1 (PSTPIP1) genes, responsible for mevalonate kinase deficiency (MKD), cryopyrin associated periodic syndromes (CAPS) and pyogenic sterile arthritis, pyoderma gangrenosum and acne (PAPA) syndrome, respectively. Over 90% of known mutations were screened using restriction fragment length polymorphism analysis and/or sequencing. Results: Two patients had paired mutations in the MVK gene (genotypes V377I/V377I and V377I/S135L) and displayed typical features of BD and MKD. Another was heterozygotic for the V377I genotype. The V198M mutation in the CIAS1 gene was identified in one patient with typical BD but no symptoms of CAPS. No mutations were identified in the control group. PSTPIP1 analysis revealed a new exon 10 insertion variant (c.741+33_741+34insGT) in 2 of 97 patients and in 1 of 51 controls (p>0.05), indicating that it is a polymorphism rather than a true mutation. Discussion: This study could not demonstrate any significant increases in MVK, CIAS1 or PSTPIP1 mutations in patients with BD as compared with controls.
Background: The diagnostic value of molecular analysis of the familial Mediterranean fever (FMF) gene (Mediterranean fever (MEFV)) has been well established only in patients selected on the basis of ...ethnic background or clinical criteria. Genetic diagnosis for other hereditary periodic fever syndromes has been poorly evaluated. Objective: To determine the diagnostic contribution of genetic tests for hereditary periodic syndromes in a large, unselected series of patients. Methods: A retrospective study was conducted on 1941 patients referred to us for FMF genetic tests between 1997 and 2005. MEFV genotypes were compared with clinical data to appraise criteria for FMF diagnosis. Genetic tests for tumour necrosis factor receptor-associated periodic syndrome (TRAPS), hyperimmunoglobulinaemia D syndrome (HIDS) and cryopyrin-associated periodic syndromes (CAPS) were also reviewed. Results: 71% of the 1574 patients with enough data had a clinical diagnosis of FMF according to the widely used Israeli criteria. Two MEFV mutations were found in only 409 patients of this subgroup (sensitivity = 37%) and in 15 (3.3%) of the patients with an improbable clinical diagnosis of FMF (specificity = 97%). Molecular diagnosis for alternate hereditary periodic syndromes was carried out in 456 of the patients having a non-conclusive FMF genetic test. A positive diagnosis was obtained in 31 of these patients (TRAPS (n = 19), HIDS (n = 4) and CAPS (n = 8)). Conclusions: First-line MEFV mutation screening in patients with clinically typical FMF may be appropriate only in particular areas. To optimise genetic diagnosis, we propose a decision tree, which, with the advice of an expert practitioner, could help redirect test indications towards non-FMF hereditary periodic syndromes.
Abstract We report a case of an adult patient who presented a febrile coma linked to Epstein-Barr virus (EBV) encephalitis. EBV polymerase chain reaction (PCR) was positive in cerebrospinal fluid ...(CSF) and blood serology and PCR in blood was consistent with an EBV reactivation. First cerebral magnetic resonance imaging (MRI) at day 1 was normal but a second MRI at day 13 showed anomaly compatible with a hemorrhagic leukoencephalitis. Treatment consists of intravenous corticotherapy and aciclovir during 21 days. Evolution was favourable with complete neurologic recuperation and no intercurrent lymphoma or vasculitis in 6 months follow-up.
The diagnostic value of selective anorexia is debated. Some authors have suggested an association between meat aversion and cancer, but most do not use it as a diagnostic tool. We aimed to ...characterize anorexia of different diseases to search for an association between selective aversions and diagnostic groups.
All the patients admitted to three departments of a teaching hospital were included consecutively for 22months if they had more than 10 % weight loss in less than one year. Patients were excluded if history taking was not reliable, or if they suffered from anorexia nervosa. We compiled diagnoses at discharge and validated them six months later. We used logistic regression to identify independent factors associated with selective anorexia.
Inclusion criteria were met in 106patients (female 44 %, median age 65years). Most frequent diagnoses were: cancer (36 %), infection (35 %), digestive diseases (19 %), non organic diseases (21 %). Recent selective anorexia was found in 46 % of the cases. It was significantly associated with female gender (P=0.002), marginally with young age (P=0.069) and long duration of weight loss (P=0.079). Opioid use at admission was negatively associated with selective anorexia (P=0.001). No specific diagnostic category was found to be associated.
Selective anorexia does not appear to be a useful symptom to investigate pathological weight loss. It behaves more like a non-specific reactivation by current disease of earlier latent personal food aversions.
Morbid obesity is an emerging condition in the general population. Bariatric surgery, which has demonstrated its effectiveness for weight loss, mortality and morbidity related to obesity, is required ...in some patients. However, it may be associated with various adverse effects, including vitamin deficiencies.
We report a 33-year old man who presented central and peripheral neurological deficits and cardiac manifestations related to multiple vitamin deficiencies, following "sleeve" gastrectomy. The vitamin deficiencies were related to insufficient ingesta secondary to psychogenic anorexia. The patient improved with vitamins, antidepressant drugs and atypical neuroleptics.
Post-operative complications of "sleeve" gastrectomy include vitamin deficiencies that can develop in the context of psychogenic anorexia and ingesta reduction, in the absence of any digestive malabsorption.
We report the first case of cutaneous leishmaniasis in a patient treated with infliximab. The species was Leishmania infantum, agent of both cutaneous leishmaniasis and visceral leishmaniasis. ...Cutaneous leishmaniasis occurred after the 9th infusion of infliximab in a patient who was suffering from ankylosing spondylitis.
BackgroundThe development of the activities of medication conciliation (CM) at admission and discharge have reduced medication errors. Due to the lack of time and adequate tools, CM information is ...rarely transmitted to patients or community health professionals (CHP). In our hospital, since July 2017, a pharmaceutical letter (PL) of hospital discharge is edited from CM data and integrated into the patient’s computerised record. This PL is given and explained to the patient and transmitted to CHP (general practioner (GP), pharmacist, rehabilitation centre).PurposeThe objective of this study was to assess the satisfaction of PL transmission to CHP and patients.Material and methodsWe conducted this prospective study in two internal medicine units from July 2017 to February 2017. This study using data regarding two internal medicine units (44 beds) were collected from July 2017 to February 2018. The PL and a satisfaction questionnaire were explained and given to the patient, and sent (email, regular mail or fax) to the pharmacy, the GP and/or the medical centre. The questionnaire included 10 questions, satisfaction scales from 0 (not at all satisfied) to 10 (very satisfied).ResultsTwo-hundred and six patients were included: sex ratio M/F=0.6, mean age 72 years’ old and average length of stay of 13 days. Respectively 112 (54%), 112 (54%), 143 (69%) and 66 (32%) PL were given and explained to patients, sent to pharmacies, doctors and others health centres. The response rates for the questionnaires were respectively 53% (59) for patients, 39% (44) for pharmacies, 5% (seven) for GP and 9% (seven) for others centres. Overall satisfaction was 8.6±2.1 for patients, 9.3±0.9 for pharmacies, 8.2±2.3 for GPs and 8.7±1.7 for other centres. According to the patients, the explanations of PL significantly improved the knowledge of their treatments (7.9±2.3 versus 9.7±0.9, p<0.001). Concerning sending modalities, the satisfactions were respectively 9.3±1.1, 6.7±3.9 and 9±1.3 for pharmacies, GPs and other centres. Satisfaction concerning quality of information were respectively 9.5±0.8, 9.2±1.2, 7.3±2 and 8.5±1.4 for patients, pharmacists, GPs and other centres.ConclusionAccording to these results, we observed a very positive overall satisfaction, on the one hand of patients, and on the other, of CHP.References and/or acknowledgementshttps://www.ncbi.nlm.nih.gov/pubmed/28007439No conflict of interest.
BackgroundProton pump inhibitors (PPIs) are currently a widely prescribed and in a particularly long-term drug class in the elderly.According to the recommendations of the Haute Autorité de Santé ...(HAS) of 2009, PPIs must be prescribed only when they are well indicated, and the indication of the treatment as well as the dosage must regularly be reviewed.PurposeThe objectives of our prospective observational study are to evaluate the prevalence of PPI prescriptions in hospitalised patients, as well as the prevalence of prescriptions that do not comply with the recommendations.Material and methodsThis study was conducted for 15 days in hospitalised patients in the internal medicine and addictology department. The indication of PPI, the dose, the duration of treatment and the status of the prescription during hospitalisation were noted.The criteria for compliance were: recommended indication and appropriate dose.ResultsNinety-one adult patients were included in the study. The average age was 60 years’ old.The PPIs were prescribed for 46% of the patients included in the study during their hospitalisation, 30 patients among them continued with the same PPI that they had before the admission, while the active ingredient of PPIs was changed for 10 of them, and stopped for two. Among patients who had a PPI before hospitalisation, 59% have had a prescription for more than 1 year, 25% between 6 months and 1 year, and 9% for less than 6 months.For the 86% for whom the indication was indicated, it is compliant in 45% of the cases. The main indications were preventing an ulcer in patients with low-dose aspirin, treatment of peptic ulcer and gastroesophageal reflux. Of those, 89% had a dose adapted to the recommendations.ConclusionThis study confirms the problem of unjustified prescription of PPIs with more than half of the prescriptions not complying with the recommendations. The use of long-term PPIs is responsible for many adverse effects and the medical teams and prescribers must be aware of the importance of a regular reevaluation of PPI prescriptions. To complete the study, the adverse effects attributable to PPIs should be investigated.References and/or acknowledgementsLes inhibiteurs de la pompe à protons chez l’adulte, recommandation HAS 2009.No conflict of interest.
OBJECTIVE
To increase the knowledge base on the frequency, causality, and avoidability of adverse drug events (ADEs) as a cause for admission in internal medicine or when occurring during ...hospitalization.
METHODS
A prospective study was performed for 6 periods of 8 days each. Epidemiologic data (e.g., age, gender, medical history), drug utilization, and adverse drug reactions on patients hospitalized during these periods were collected by a pharmacy student.
RESULTS
A total of 156 patients (70 men and 86 women) were included in the study. The patients’ mean age ± SD was 66.5 ± 18.1 years and mean length of stay was 13.2 ± 9 days. Renal and hepatic insufficiency and previous history of drug intolerance were observed in 17.9%, 10.2%, and 2% of the hospitalized patients, respectively. Thirty-eight ADEs occurred in 32 patients; in 15 cases, ADEs were identified as the reason for admission, 10 cases occurred during hospitalization, and 13 cases were present at admission, but were not the cause of admission. The most frequent ADEs involved the neurologic (23.6%), renal (15.7%), and hematologic (13.1%) systems. Among these 38 ADEs, 22 were considered avoidable (57.9%); 20 of these were associated with therapeutic errors (inappropriate administration, drug–drug interactions, dosage error, drug not stopped despite the onset of ADEs). Patients with ADEs stayed longer in the hospital and took more drugs both before and during their hospital stay (p < 0.05).
CONCLUSIONS
Most of the ADEs observed in this study were avoidable. The risk/benefit ratio of administered drugs could be improved with better knowledge of the patients’ medical history and the risk factors of ADEs.
PDF
