ABSTRACT
BACKGROUND: The spiral ganglion hypothesis suggests that pathogenic variants in genes preferentially expressed in the spiral ganglion nerves (SGN), may lead to poor cochlear implant (CI) performance. It was long thought that TMPRSS3 was particularly expressed in the SGNs. However, this is not in line with recent reviews evaluating CI performance in subjects with TMPRSS3-associated sensorineural hearing loss (SNHL) reporting overall beneficial outcomes. These outcomes are, however, based on variable follow-up times of, in general, 1 year or less. Therefore, we aimed to 1. evaluate long-term outcomes after CI implantation of speech recognition in quiet in subjects with TMPRSS3-associated SNHL, and 2. test the spiral ganglion hypothesis using the TMPRSS3-group. METHODS: This retrospective, multicentre study evaluated long-term CI performance in a Dutch population with TMPRSS3-associated SNHL. The phoneme scores at 70 dB with CI in the TMPRSS3-group were compared to a control group of fully genotyped cochlear implant users with post-lingual SNHL without genes affecting the SGN, or severe anatomical inner ear malformations. CI-recipients with a phoneme score ≤ 70% at least 1-year post-implantation were considered poor performers and were evaluated in more detail. RESULTS: The TMPRSS3 group consisted of 29 subjects (N = 33 ears), and the control group of 62 subjects (N = 67 ears). For the TMPRSS3-group, we found an average phoneme score of 89% after 5 years, which remained stable up to 10 years post-implantation. At both 5 and 10-year follow-up, no difference was found in speech recognition in quiet between both groups (p = 0.830 and p = 0.987, respectively). Despite these overall adequate CI outcomes, six CI recipients had a phoneme score of ≤ 70% and were considered poor performers. The latter was observed in subjects with residual hearing post-implantation or older age at implantation. CONCLUSION: Subjects with TMPRSS3-associated SNHL have adequate and stable long-term outcomes after cochlear implantation, equal to the performance of genotyped patient with affected genes not expressed in the SGN. These findings are not in line with the spiral ganglion hypothesis. However, more recent studies showed that TMPRSS3 is mainly expressed in the hair cells with only limited SGN expression. Therefore, we cannot confirm nor refute the spiral ganglion hypothesis.
Subject(s)
Cochlear Implantation , Cochlear Implants , Deafness , Hearing Loss, Sensorineural , Hearing Loss , Humans , Retrospective Studies , Hearing Loss, Sensorineural/genetics , Hearing Loss, Sensorineural/surgery , Treatment Outcome , Membrane Proteins/genetics , Membrane Proteins/metabolism , Neoplasm Proteins/genetics , Serine Endopeptidases/geneticsABSTRACT
BACKGROUND: Combining a mobile application-based vestibular diary called the DizzyQuest and an iPad-based hearing test enables evaluation of the relationship between experienced neuro-otological symptoms and hearing thresholds in daily life setting. The aim was to investigate the relationship between self-reported hearing symptoms and hearing thresholds in patients with Meniere's disease (MD), using the DizzyQuest and the iPad-based hearing test simultaneously. METHODS: The DizzyQuest was administered for 3 weeks in 21 patients. Using the experience-sampling-method (ESM), it assessed hearing loss and tinnitus severity for both ears separately. Each day after the DizzyQuest, an iPad-based hearing test was used to measure hearing thresholds. A mixed model regression analysis was performed to investigate relationships between hearing thresholds and self-reported hearing loss and tinnitus severity. RESULTS: Fifteen patients were included. Overall, pure-tone averages (PTAs) were not correlated with self-reported hearing loss severity and tinnitus. Individual differences in PTA results between both ears did not significantly influence the difference in self-reported hearing loss severity between both ears. Self-reported hearing loss and tinnitus scores were significantly higher in ears that corresponded with audiometric criteria of MD (p < 0.001). Self-reported tinnitus severity significantly increased with self-reported hearing loss severity in affected (p = 0.011) and unaffected ears (p < 0.001). CONCLUSION: Combining the DizzyQuest and iPad-based hearing test, facilitated assessment of self-reported hearing loss and tinnitus severity and their relationship with hearing thresholds, in a daily life setting. This study illustrated the importance of investigating neuro-otological symptoms at an individual level, using multiple measurements. ESM strategies like the DizzyQuest should therefore be considered in neuro-otological research.
Subject(s)
Hearing Loss , Meniere Disease , Tinnitus , Audiometry, Pure-Tone , Hearing , Hearing Loss/complications , Hearing Loss/diagnosis , Humans , Meniere Disease/complications , Meniere Disease/diagnosis , Self ReportABSTRACT
BACKGROUND: Ischaemia without obstructive coronary arteries (INOCA) is more prevalent in women and associated with psychological distress. Pharmacological treatment goals are angina relief and cardiovascular risk management. The present study aims to examine sex differences in cardiac and non-cardiac medication use, as well as medication and sex differences related to consistent psychological distress in patients with suspected INOCA. DESIGN: A TweeSteden mild stenosis observational cohort study in patients with suspected INOCA as detected by ischaemic reason for referral and non-obstructive arteries based on coronary angiography or computed tomography. METHODS: Medication documented in the hospital records of 488 patients (53% women) was coded as angina relief medication, blood-pressure-lowering medication, antithrombotics, statins, and non-cardiac medication, using the Anatomical Therapeutic Chemical code. Depressive symptoms and anxiety were recoded as 'consistent distress' (above the cut-off score for depression and anxiety on validated questionnaires), 'inconsistent distress' (above the cut-off for depression or anxiety) or 'no distress' (below the cut-off). RESULTS: No sex differences were observed in cardiac medication use. Women used anxiolytic benzodiazepines more often (12% vs 4%, pâ¯= 0.002) compared to men. Consistent distress was more prevalent in women (22% vs 15%, pâ¯= 0.004) and was related to the use of more angiotensin-converting enzyme inhibitors/angiotensin receptor blockers and diuretics in women and to calcium antagonist use as well as lower adherence levels in men. Women who reported chest pain more often received angina relief medication and blood-pressure-lowering medication than men. CONCLUSION: No sex differences were observed in cardiac medication use in patients with suspected INOCA. Psychological distress may reflect hypertension and subsequent medication use in women, and experiencing chest pain and subsequent medication use in men.
ABSTRACT
BACKGROUND: The DizzyQuest, an app-based vestibular diary, provides the opportunity to capture the number and nature of vertigo attacks in daily life. To accomplish this, the DizzyQuest provides different strategies: event sampling using an attack questionnaire, and time sampling using an evening questionnaire. Objective of this study was to investigate whether the number and nature of reported vertigo attacks was comparable between the two questionnaires. METHODS: Fifty-seven patients, who reported vertigo attacks, used the DizzyQuest for on average 24 days. The number and nature (including symptoms, triggers and duration) of vertigo attacks were compared between the attack and the evening questionnaire. RESULTS: The attack questionnaire was used 192 times. In contrast, at least 749 new vertigo attacks were reported in 446 evening questionnaires. A vertigo attack was not always reported in both questionnaires during the same day. Vertigo attacks that were most likely captured by both questionnaires were not always reported the same in both questionnaires regarding triggers and duration. CONCLUSION: Event sampling using an attack questionnaire has low recall bias and, therefore, reliably captures the nature of the attack, but induces a risk of under-sampling. Time sampling using an evening questionnaire suffers from recall bias, but seems more likely to capture less discrete vertigo attacks and it facilitates registration of the absence of vertigo attacks. Depending on the clinical or research question, the right strategy should be applied and participants should be clearly instructed about the definition of a vertigo attack.
Subject(s)
Vertigo , Humans , Surveys and Questionnaires , Vertigo/diagnosis , Vertigo/epidemiologyABSTRACT
BACKGROUND: Most questionnaires currently used for assessing symptomatology of vestibular disorders are retrospective, inducing recall bias and lowering ecological validity. An app-based diary, administered multiple times in daily life, could increase the accuracy and ecological validity of symptom measurement. The objective of this study was to introduce a new experience sampling method (ESM) based vestibular diary app (DizzyQuest), evaluate response rates, and to provide examples of DizzyQuest outcome measures which can be used in future research. METHODS: Sixty-three patients diagnosed with a vestibular disorder were included. The DizzyQuest consisted of four questionnaires. The morning- and evening-questionnaires were administered once each day, the within-day-questionnaire 10 times a day using a semi-random time schedule, and the attack questionnaire could be completed after the occurrence of a vertigo or dizziness attack. Data were collected for 4 weeks. Response rates and loss-to-follow-up were determined. Reported symptoms in the within-day-questionnaire were compared within and between patients and subgroups of patients with different vestibular disorders. RESULTS: Fifty-one patients completed the study period. Average response rates were significantly higher than the desired response rate of > 50% (p < 0.001). The attack-questionnaire was used 159 times. A variety of neuro-otological symptoms and different disease profiles were demonstrated between patients and subgroups of patients with different vestibular disorders. CONCLUSION: The DizzyQuest is able to capture vestibular symptoms within their psychosocial context in daily life, with little recall bias and high ecological validity. The DizzyQuest reached the desired response rates and showed different disease profiles between subgroups of patients with different vestibular disorders. This is the first time ESM was used to assess daily symptoms and quality of life in vestibular disorders, showing that it might be a useful tool in this population.
Subject(s)
Mobile Applications , Vestibular Diseases , Dizziness/diagnosis , Humans , Quality of Life , Retrospective Studies , Surveys and Questionnaires , Vertigo , Vestibular Diseases/diagnosisABSTRACT
OBJECTIVE: Risk stratification within the ICD population warrants the examining of the role of protective- and risk factors. Current study examines the association between Type D personality, pessimism, and optimism and risk of ventricular tachyarrhythmias (VTa's) and mortality in patients with a first-time ICD 6 years post implantation. METHODS: A total of 221 first-implant ICD patients completed questionnaires on optimism and pessimism (Life Orientation Test) and Type D personality (Type D scale DS14) 10 to 14 days after implantation. VTa's and all-cause mortality 6 years post implant comprised the study endpoints. RESULTS: Ninety (40.7%) patients had experienced VTa's and 37 (16.7%) patients died, 12 (5.4%) due to a cardiac cause. Adjusted logistic regression analysis showed that pessimism was significantly associated with increased risk of VTa's (OR = 1.09; 95% CI = 1.00-1.19; p = .05). Type D personality (OR = 1.05; 95% CI = 0.47-2.32; p = .91) and optimism (OR = 1.00; 95% CI = 0.90-1.12; p = .98) were not associated with VTa's. None of the personality types were associated with mortality. CONCLUSION: Pessimism was associated with VTa's but not with mortality. No significant association with either of the endpoints was observed for Type D personality and optimism. Future research should focus on the coexistent psychosocial factors that possibly lead to adverse cardiac prognosis in this patient population.
Subject(s)
Defibrillators, Implantable/statistics & numerical data , Optimism , Pessimism , Tachycardia/mortality , Tachycardia/therapy , Type D Personality , Adult , Aged , Female , Follow-Up Studies , Humans , Male , Middle AgedABSTRACT
OBJECTIVE: The implantable cardioverter defibrillator (ICD) is the treatment of choice for prevention of sudden cardiac death. However, a subgroup of ICD patients experiences psychological adjustment problems post implant. To date, positive psychological constructs (e.g. optimism) have been understudied in this population. Hence, we examined the association between optimism and anxiety, depression, and health status at 12-months post implant. METHODS: Patients (N=171) enrolled in the WEB-based distress management study for ICD patients were included in the analyses. Optimism and pessimism (LOT), and Type D personality (DS14) were administered at baseline, while anxiety (GAD-7), depression (PHQ-9), and health status (SF-12) were assessed at 12-months. RESULTS: The mean age was 59.6±10.06 with 81% being male. After controlling for demographic, personality, and clinical variables, baseline optimism was associated with lower anxiety (ß=-0.210; p=0.011) and depression (ß=-0.222; p=0.005), and better physical (ß=0.227; p=0.004) and mental health status (ß=0.350; p=0.000) at follow-up. Optimism was also associated with change in mental health status (ß=0.195; p=0.007) but not with change in anxiety, depression, and physical health status at follow-up. CONCLUSIONS: Our findings indicate that optimism is associated with less distress and possibly helps safeguard mental health in ICD patients. Increase optimism might be the way forward to reduce long-term distress and impaired health status. TRIAL REGISTRATION: http://www.ClinicalTrials.gov. Identifier: NCT00895700.
Subject(s)
Anxiety/psychology , Defibrillators, Implantable/psychology , Depression/psychology , Health Status , Optimism/psychology , Patient Reported Outcome Measures , Personality , Adult , Aged , Female , Humans , Male , Middle AgedABSTRACT
BACKGROUND: Sleep disturbances are highly prevalent in patients with cardiac diseases and associated with poor health outcomes. However, little is known about sleep disturbance in patients with an implantable cardioverter defibrillator. AIMS: We examined the prevalence and predictors of sleep disturbance and the impact on perceived health status in a Dutch cohort of implantable cardioverter defibrillator patients. METHODS: Patients ( n=195) enrolled in the Web-based distress program for implantable cardioverter defibrillator patients (WEBCARE) trial completed questionnaires at the time of implantable cardioverter defibrillator implantation, three, six and 12 months afterwards. Sleep disturbance was assessed with the corresponding item #3 of the Patient Health Questionnaire 9. RESULTS: At baseline, 67% ( n=130) reported sleep disturbance (cut off ≥1). One year later, the prevalence was 57% ( n=112). Younger age (odds ratio=0.96, 95% confidence interval 0.92-0.99; p=0.012) and high negative affectivity/low social inhibition (odds ratio=4.47, 95% confidence interval 1.52-13.17; p=0.007) were associated with sleep disturbance at 12 months in adjusted analyses. Sleep disturbance was not associated with health status at 12 months. Charlson Comorbidity Index, anxiety, Type D personality and high negative affectivity/low social inhibition were associated with impaired health status at follow-up. CONCLUSIONS: Sleep disturbance was highly prevalent in patients with an implantable cardioverter defibrillator. Younger age and high negative affectivity predicted sleep disturbance 12 months post-implantation independent of other demographic, clinical, intervention and psychological covariates. Sleep disturbance was not associated with impaired health status at the 12-month follow-up.
Subject(s)
Arrhythmias, Cardiac/psychology , Defibrillators, Implantable/psychology , Sleep Wake Disorders/epidemiology , Aged , Anxiety/psychology , Arrhythmias, Cardiac/therapy , Cohort Studies , Depression/psychology , Female , Health Status , Humans , Male , Middle Aged , Prevalence , Self Concept , Surveys and Questionnaires , Type D PersonalityABSTRACT
Stridor caused by.a blue laryngeal mass in an infant: case report. We describe an infant who had inspiratory stridor that began a few weeks after birth. Flexible upper airway endoscopy while the infant was awake showed a large blue mass at the posterior glottis, above the esophageal inlet. The lesion was only visible upon crying or coughing; it was undetectable when we examined the infant in the supine position during spontaneous breathing and did not respond to systemic treatment with propranolol. Based upon these typical features, we established a diagnosis of pressure- dependent postcricoid mass.
Subject(s)
Cricoid Cartilage , Laryngeal Diseases/complications , Respiratory Sounds/etiology , Humans , Infant , Laryngeal Diseases/diagnosis , MaleABSTRACT
BACKGROUND: Patients presenting with chest pain in nonobstructive coronary artery disease (CAD, luminal narrowing <60%) are at risk for emotional distress and future events. We aimed to examine the association of personality subtypes with persistent chest pain, and investigated the potential mediating effects of negative mood states. METHODS: Any chest pain in the past month was the primary outcome measure reported by 523 patients with nonobstructive CAD (mean age 61.4 years, SD = 9.4; 48% men), who participate in the TweeSteden Mild Stenosis (TWIST) observational cohort. Personality was categorized into a 'reference group', a high social inhibition ('SI only'), a high negative affectivity ('NA only') and a 'Type D' (NA and SI) group. Negative mood states included symptoms of depression and anxiety (Hospital Anxiety and Depression Scale) and cognitive and somatic depression (Beck Depression Inventory). The PROCESS macro was used to examine the relation between personality subtypes and chest pain presence, with the negative mood states as potential mediators. RESULTS: Persistent chest pain was present in 44% of the patients with nonobstructive CAD. Type D personality (OR = 1.91, 95% CI 1.24-2.95), but not the 'NA only' (OR = 1.48, 95% CI 0.89-2.44) or the 'SI only' (OR = 0.93, 95% CI 0.53-1.64) group was associated with chest pain, adjusted for age and sex. Negative mood states mediated the association between personality and chest pain. CONCLUSIONS: Type D personality, but not negative affectivity or social inhibition, was related to chest pain in nonobstructive CAD, which was mediated by negative mood states.
Subject(s)
Anxiety/psychology , Chest Pain/psychology , Coronary Artery Disease/psychology , Coronary Stenosis/psychology , Depression/psychology , Personality , Affect , Aged , Chest Pain/etiology , Cohort Studies , Coronary Artery Disease/complications , Coronary Stenosis/complications , Female , Humans , Inhibition, Psychological , Male , Middle Aged , Personality Tests , Psychiatric Status Rating Scales , Risk Factors , Social Behavior , Socioeconomic FactorsABSTRACT
BACKGROUND: The association between Dientamoeba (D.) fragilis and the aetiology of functional gastrointestinal disorders (FGID) in children is unclear. AIM: The aim of this retrospective case-control study is to clarify the clinical relevance of D. fragilis in children with chronic abdominal pain. METHODS: From April 2011 until April 2013, a total of 132 patients with chronic abdominal pain (AP), aged 8-18â years, referred to a non-academic hospital, and 77 control patients, aged 8-18â years without gastrointestinal symptoms referred to a psychiatric hospital, were included in the study. D. fragilis was diagnosed by real-time PCR in faecal samples. Symptomatic children without a D. fragilis infection fulfilled the ROME III criteria for AP-related FGID (AP-FGID). Clinical data were retrospectively analysed by examining patients' hospital records from the Jeroen Bosch Hospital and Herlaarhof in The Netherlands. RESULTS: D. fragilis was detected in 57 patients with chronic AP (43.2%) and in 39 controls (50.6%) (p=0.255). No significant differences in symptomatology were found between D. fragilis-infected children and children fulfilling the criteria for AP-FGID. Parasitological eradication was achieved in 61.7% of patients after treatment with metronidazole or clioquinol, while clinical improvement occurred in only 40.4% of patients (p=0.435). CONCLUSIONS: There were no differences in symptoms comparing children with and without D fragilis infection. Furthermore, no relation was found between clinical and microbiological response after treatment for D. fragilis. This retrospective study suggests that there is no association between chronic AP and D. fragilis infection.
Subject(s)
Abdominal Pain/parasitology , Dientamoeba/isolation & purification , Dientamoebiasis/parasitology , Gastrointestinal Diseases/parasitology , Abdominal Pain/diagnosis , Abdominal Pain/drug therapy , Adolescent , Antiprotozoal Agents/therapeutic use , Case-Control Studies , Child , Chronic Disease , Clioquinol/therapeutic use , Dientamoebiasis/diagnosis , Dientamoebiasis/drug therapy , Feces/parasitology , Female , Gastrointestinal Diseases/diagnosis , Gastrointestinal Diseases/drug therapy , Humans , Male , Metronidazole/therapeutic use , Prevalence , Real-Time Polymerase Chain Reaction , Retrospective StudiesABSTRACT
BACKGROUND: The prevalence and diagnostic value of heart failure symptoms in elderly primary care patients with hypertension is unknown. AIM: To assess the prevalence, sensitivity, specificity, positive and negative predictive value of symptoms in association with an abnormal echocardiogram. DESIGN AND SETTING: Cross-sectional screening study in five general practices in the south-east of the Netherlands. METHOD: Between June 2010 and January 2013, 591 primary care hypertension patients aged between 60 and 85 years were included, without known heart failure and not treated by a cardiologist. All patients underwent an echocardiogram and a structured interview including assessment of heart failure symptoms: shortness of breath, fatigue, oedema, cold extremities, and restless sleep. RESULTS AND CONCLUSION: Restless sleep was reported by 25 %, cold extremities by 23 %, fatigue by 19 %, shortness of breath by 17 %, and oedema by 13 %. Oedema was the only symptom significantly associated with an abnormal echocardiogram (positive predictive value was 45 %, sensitivity 20 %, and specificity 90 %, OR 2.12; 95 % CI = 1.23-3.64), apart from higher age (OR 1.06; 95 % CI = 1.03-1.09), previous myocardial infarction (OR 3.00; 95 % CI = 1.28-7.03), and a systolic blood pressure of >160 mmHg (OR 1.62; 95 % CI = 1.08-2.41). Screening with echocardiography might be considered in patients with oedema.
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BACKGROUND: Recent guidelines on cardiovascular disease prevention advocate the importance of psychological risk factors, as they contribute to the risk of developing cardiovascular disease. However, most previous research on psychological distress and cardiovascular factors has focused on selected populations with cardiovascular disease. AIM: The primary aim was to determine the prevalence of depression, anxiety, and Type D personality in elderly primary care patients with hypertension. Secondary aim was to examine the relation between elevated systolic blood pressure and depression, anxiety, and Type D personality. DESIGN AND SETTING: A cross-sectional study in primary care practices located in the south of the Netherlands. METHOD: Primary care hypertension patients (N = 605), between 60 and 85 years (45 % men, mean age = 70 ± 6.6), were recruited for this study. All patients underwent a structured interview including validated self-report questionnaires to assess depression (PHQ-9), anxiety (GAD-7), and Type D personality (DS14) as well as blood pressure assessment. RESULTS AND CONCLUSION: Depression was prevalent in 5 %, anxiety in 5 %, and Type D personality in 8 %. None of the distress measures were associated with elevated systolic blood pressure of >160 mmHg (all p-values >0.05). This study showed no relation between psychological distress and elevated systolic blood pressure in elderly primary care patients with hypertension.
ABSTRACT
OBJECTIVE: To describe the effect of time after velopharyngoplasty on outcome and to search for preoperative prognostic factors for residual hypernasality in patients with 22q11.2 deletion syndrome. DESIGN: Retrospective chart review. SETTING: Tertiary hospital. PATIENTS: Patients with 22q11.2 deletion syndrome and velopharyngeal dysfunction who underwent a primary (modified) Honig velopharyngoplasty between 1989 and 2009. MAIN OUTCOME MEASURES: Clinically obtained perceptual and instrumental measurements of resonance, nasalance, and understandability before and after velopharyngoplasty. RESULTS: Data were available for 44 of 54 patients (81% follow-up), with a mean follow-up time of 7.0 years (range, 1.0 to 19.4 years). During follow-up, 24 (55%) patients attained normal resonance and 20 (45%) had residual hypernasality or underwent revision surgery. Mean postoperative nasalance and understandability scores were closer to the norm than mean preoperative scores were (2.0 versus 5.5 standard deviations for the normal passage, 1.3 versus 8.1 standard deviations for the nonnasal passage, and score 2.3 versus 4.1 understandability). Serial measurements revealed that hypernasality only resolved an average of 5 years after surgery, and three patients whose resonance initially normalized later relapsed to hypernasality. Gender, age at surgery, lateral pharyngeal wall adduction, velar elevation, presence of a palatal defect, previous intravelar veloplasty, nasalance, understandability, adenoidectomy, hearing loss, and IQ were not able to predict poor outcome following primary velopharyngoplasty (all p > .05). CONCLUSIONS: In this chart review of patients with 22q11.2 deletion syndrome and velopharyngeal dysfunction, residual hypernasality persisted in many patients after velopharyngoplasty. None of the preoperative factors that were studied had prognostic value for the outcome.
Subject(s)
Chromosomes, Human, Pair 22/genetics , Speech Disorders/physiopathology , Velopharyngeal Insufficiency/genetics , Velopharyngeal Insufficiency/physiopathology , Adolescent , Child , Child, Preschool , Female , Gene Deletion , Humans , Longitudinal Studies , Male , Prognosis , Retrospective Studies , Syndrome , Treatment Outcome , Velopharyngeal Insufficiency/surgeryABSTRACT
--Several psychotropic drugs that are prescribed to children and adolescents can prolong the QT interval on ECG. QT prolongation can cause a potentially fatal type ofventricular tachycardia known as 'torsade de pointes'. --In 1999, the American Heart Association published a guideline on cardiovascular monitoring of children and adolescents receiving psychotropic drugs. --A similar guideline does not exist in the Netherlands. A survey of Dutch child and adolescent psychiatrists revealed a need for guidelines on QT monitoring in children and adolescents taking psychotropic drugs associated with QT prolongation. --A multidisciplinary panel of professionals drafted a proposed guideline for QT monitoring in patients treated with QT-prolonging psychotropic drugs. --The proposed guideline is summarised in two flowcharts, one for the first consultation and one for follow-up visits.
Subject(s)
Long QT Syndrome/chemically induced , Psychotropic Drugs/adverse effects , Torsades de Pointes/chemically induced , Adolescent , Child , Humans , Practice Guidelines as Topic , Psychotropic Drugs/therapeutic useABSTRACT
SUMMARY: The 22q11.2 deletion syndrome represents a contiguous gene syndrome with a highly variable phenotype. To date, over 180 clinical features have been described. Studies have been done in order to identify the responsible genes. Several candidate genes such as TBX1 and COMT seem to be important in the development of the phenotype. One of the prevalent and serious problems encountered by patients with the 22q11.2 deletion is difficulty with speech. This may be due to a number of factors such as adenoid hypoplasia, muscle hypotonia, platybasia, upper airway asymmetry, and neuroanatomical abnormalities. The complex interaction of these factors leads to less favourable results after surgery to correct velopharyngeal insufficiency. This article offers a theoretical overview and proposes future research to investigate which factors are indeed responsible for the speech problems encountered by patients with the 22q11.2 deletion and identify responsible genes.
Subject(s)
Articulation Disorders/genetics , DiGeorge Syndrome/genetics , Abnormalities, Multiple/genetics , Abnormalities, Multiple/therapy , Articulation Disorders/therapy , Child , Chromosome Deletion , Chromosomes, Human, Pair 22/genetics , DiGeorge Syndrome/complications , DiGeorge Syndrome/therapy , Humans , Otorhinolaryngologic Surgical Procedures/adverse effects , Otorhinolaryngologic Surgical Procedures/methodsABSTRACT
Although percutaneous insertion of pacemaker leads is a simple and safe method, it remains a procedure with a relatively high complication rate. We describe an uncommon and avoidable complication of this technique: piercing the lung with a pacemaker lead in an obese patient after direct puncture of the subclavian vein.
ABSTRACT
BACKGROUND: During the past decade, various new treatments have become available for patients with acute myocardial infarction. The effects of these treatment modalities have been studied extensively in selected patient groups. These studies indicate that early diagnosis, risk stratification and prompt initiation of treatment are of crucial importance for optimal benefit. However, it is not known whether prognosis changed in all patients admitted with an acute myocardial infarction. Also, the characteristics of the infarct population may have changed over time because of new medication regimens, invasive interventions and awareness of the importance of risk factors. METHODS: We studied all patients admitted with acute myocardial infarction in 1982, 1988 and 1994. Information on baseline characteristics, clinical variables and all interventions was collected. FINDINGS: In those 3 years 223, 227 and 235 patients were admitted because of an acute myocardial infarction. Patients admitted in 1994 were older, more often female and less often had a previous cardiac history. More patients admitted in that year had previous balloon angioplasty and coronary bypass grafting. Smoking habits decreased during the past decade. In-hospital mortality was 38 (17%) in 1982, 23 (10%) in 1988 and 22 (9%) in 1994 (P < 0.05). Variables related to high risk for in-hospital death in 1982 were higher age, low systolic blood pressure, atrial fibrillation, absence of accelerated idioventricular rhythm, sustained ventricular tachycardia and signs of left ventricular dysfunction; in 1988 the occurrence of non-sustained ventricular tachycardia, Killip class more than I, the absence of thrombolytic therapy, percutaneous transluminal coronary angioplasty or coronary artery bypass grafting were independently related to in-hospital death. In 1994, high risk variables for in-hospital death were dyspnoea on admission, sustained ventricular tachycardia, female gender, higher creatinine on admission, and a previous cardiac history. INTERPRETATION: In-hospital mortality for unselected patients admitted with an acute myocardial infarction decreased between 1982 and 1988 and remained the same between 1988 and 1994, in spite of further ageing of the population. In the study period there has been a change in baseline characteristics and high risk variables for in-hospital death after myocardial infarction.