Penningtonebsen5759

The heritable forms of keratinization disorders, including various forms of ichthyosis and keratodermas, comprise a phenotypically heterogeneous group of diseases which can be divided into syndromic and non-syndromic forms. In the non-syndromic forms, the clinical manifestations are limited to the cutaneous structures while the syndromic ones are associated with a spectrum of extracutaneous manifestations. The inheritance in different families can be autosomal dominant, autosomal recessive or either X-linked dominant or recessive. Currently at least 67 distinct genes have been associated with different forms of ichthyosis. These genes can be grouped on the basis of their physiological involvement, including genes encoding structural components of epidermis, those involved in epidermal lipid metabolism, or those critical for cell-cell adhesion, and keratinocyte differentiation. This overview highlights some of the recent progress made in understanding the molecular genetics of keratinization disorders, and presents selected, recently characterized cases as representative of different forms of heritable ichthyosis.INTRODUCTION This is a retrospective analysis of outcomes by Singapore Medical Council (SMC) disciplinary tribunals in cases involving junior doctors. We aimed to classify the types of unprofessional behaviour and consider appropriate measures for remediation and prevention. METHODS SMC's annual reports from 1979 to 2017 and published grounds of decision from 2008 to 2017 were examined using two screening levels to identify cases involving junior doctors. Cases were sorted into five outcome categories (a) professional misconduct; (b) fraud and dishonesty; (c) defect in character; (d) disrepute to the profession; and (e) acquitted. RESULTS A total of 317 cases were identified, of which 13 (4.1%) involved junior doctors 4 (30.8%) cases involved professional misconduct, 4 (30.8%) cases involved fraud and dishonesty, 3 (23.1%) cases saw an acquittal, and one case each involved defect in character and disrepute to the profession. The four cases of professional misconduct highlight the need to differentiate medical errors due to systems factors from those due to individual culpability, by applying analytical tools such as root cause analysis and Unsafe Act Algorithms. Disciplining the individual alone does not help prevent the recurrence of similar medical errors. We found that fraud and dishonesty was an important category of unprofessional behaviour among junior doctors. CONCLUSION While the frequency of unprofessional behaviour among junior doctors, as determined by the SMC disciplinary tribunal, is low (4.1%), this study highlights that complaints against medical doctors often involve systems issues and individual factors. Unprofessional behaviours related to fraud and dishonesty need special attention in medical school.INTRODUCTION This study aimed to assess the effectiveness of the emergency department observation unit (EDOU) for patients with acute pyelonephritis in a Singapore tertiary academic medical centre. METHODS We reviewed the clinical records of consecutive patients who presented with pyelonephritis between 1 July 2012 and 31 October 2014 to collect information on demographics, symptoms, signs, laboratory and radiological results, treatment, and clinical outcomes. RESULTS Of 459 emergency department (ED) patients who were identified as having pyelonephritis, 164 (35.7%) were managed in the EDOU. Successful management in the EDOU was achieved in 100 (61.0%) patients. Escherichia coli was the predominant (64.6%) micro-organism in urine cultures and was positive in 106 patients. Patients diagnosed with acute pyelonephritis who were successfully managed in the EDOU had a lower incidence of nausea (32.0% vs. 60.9%, p less then 0.001) and vomiting (15.0% vs. 50.0%, p less then 0.001) compared to those who were not successful. CONCLUSION EDOU is useful for both observation and treatment of patients with acute pyelonephritis. Urine cultures are sufficient for the identification of the culprit micro-organism. Patients who present with prominent symptoms of vomiting should have routine administration of antiemetics, while consideration for second-line antiemetics is recommended for those with persistent symptoms.INTRODUCTION Physical activity (PA) and sedentary behaviour (SB) independently influence the health outcomes of older adults. Both provide interventional opportunities for successful ageing. We aimed to determine levels of PA and SB in ambulatory older adults and their associated factors in a developed Asian population known for its longevity. METHODS We conducted a cross-sectional observational study in a Singapore public primary healthcare centre. Multi-ethnic Asian adults aged ≥ 60 years took an interviewer-administered questionnaire survey. PA and SB were assessed using the Physical Activity Scale for the Elderly (PASE; score range 0 to > 400) and the Sedentary Behaviour Questionnaire for the Elderly, respectively. RESULTS Among 397 participants (50.9% female; 73.2% Chinese; 47.9% aged ≥ 70 years; 33.5% employed, including voluntary work), 58.7% had ≥ 3 chronic illnesses and 11.1% required walking aids. The median PASE score was 110.8 (interquartile range 73.8-171.6) and decreased significantly with increasing age. Higher PASE score was associated with higher educational level, employment, independent ambulation without aid, and fewer chronic illnesses (p less then 0.01). Employment status significantly influenced PASE score (β = 84.9, 95% confidence interval 66.5-103.4; p less then 0.01). 37.0% spent ≥ 8 hours daily on sedentary activity and were twice as likely to do so if they were employed (odds ratio [OR] 2.19, 95% CI 1.34-3.59; p less then 0.01). read more CONCLUSION The PA of the older adults decreased with increasing age and increased with employment. One-third of them were sedentary for ≥ 8 hours daily. Those who were employed were twice as likely to have SB.INTRODUCTION A pseudoaneurysm (or false aneurysm) is a haematoma communicating with an artery through a disruption in the arterial wall. The femoral artery is the most common injection site among drug users and infected femoral pseudoaneurysms are the most common vascular complications. METHODS A retrospective review of medical records of intravenous drug abusers (IVDAs) who presented with infected femoral pseudoaneurysms from January 2006 to December 2016 was carried out. Patients who had pseudoaneurysms due to other aetiologies or trauma were excluded. RESULTS A total of 27 patients with infected femoral pseudoaneurysms were identified. The majority was male (92.6%) and of Malay ethnicity (55.6%). Median age was 50 (range 31-62) years. Commonly abused drugs were buprenorphine (or Subutex; 59.3%) and midazolam (or Dormicum; 51.9%). Groin pain and swelling (100.0%), fever (66.7%) and presence of a pulsatile mass (51.9%) were the most common presenting symptoms. Diagnosis was confirmed via computed tomography angiography in all patients.