The IMPACT of the COVID-19 Pandemic on Prescription Drug Use in Patients with Psoriasis Vulgaris in Germany.

INTRODUCTION: Real-world evidence (RWE) data is increasingly important to generate rapid insights to effectively manage patient populations. Disruptions like the coronavirus disease 2019 (COVID-19) pandemic may negatively impact the choice of medications used for managing chronic diseases such as psoriasis (PSO). Here, we explored the effect of the COVID-19 pandemic on the sales volumes of treatment guideline-based PSO medication in Germany. METHODS: Patient-level pharmacy dispensing data from the Permea platform, covering approximately 44% of all community pharmacy dispensing in Germany, were analysed from 2019 through to 2021. Patient demographics and PSO indicated medication sales were assessed specifically before and during the pandemic in Germany. RESULTS: We included 6,865,852 sold PSO related drugs from April 2019 to March 2021. Medication sales increased during the pandemic compared with before the pandemic for treatment classes of first-line biological and second-line drugs. The increase was observed across all age groups, but monthly variations could not be detected. Furthermore, we observed increased sales in first-line biological and second-line medications when comparing low to high COVID-19 incidence state. CONCLUSION: Throughout the COVID-19 pandemic the PSO indicated medication sales increased for first-line biological and second-line treatment. This shows that despite the pandemic impact, there continues to be an increase in sales volume for biologics. Only German federal states with intermittently very high COVID-19 incidences show a stagnation in sales volume. The reasons for this need to be investigated in further studies to possibly gain a better understanding of the concerns and uncertainties of patients with PSO.

Correlation and differences of patient-reported outcomes vs. Likert-Rating of MS symptoms in a real-world cohort using a digital patient app.

Background: Multiple Sclerosis (MS) is a chronic and progressive neurological autoimmune disease currently affecting 250,000 individuals in Germany. Patients suffering from the disease can be severely impaired in their day-to-day activities. BRISA is a digital app specifically designed to help MS patients monitor their disease by regularly tracking symptoms. Lengthy and time-consuming questionnaires for patient-reported outcomes (PRO) are the standard method to assess the patients' current condition. Here, we examine whether simplified versions of these questionnaires can provide comparable information regarding individual symptom presentations in BRISA users. Methods: 828 users were included in the analysis. Patients who provided onboarding information and answered at least one questionnaire and the corresponding simplified smiley symptoms assessment were included. Correlation of questionnaire and symptom scores was calculated using Pearson's correlation. Results: Our analysis cohort predominantly consisted of female, 26-55-year-olds. Relapsing-remitting MS (RRMS) was the most common MS type recorded. Most patients were diagnosed 2-5 years ago. Questionnaires regarding fatigue and vision impairment were among the most answered, those regarding bowel movement and sexual satisfaction received fewest responses. Overall, the scores from questionnaires and symptoms correlated positively. Scoring correlation could also be shown across the subgroups divided by gender, age groups, type of MS, and time since diagnosis of the disease. Conclusion: Scores recorded from traditional PRO questionnaires can be reflected more easily as a trend in a simplified scale using smileys. Nevertheless, traditional questionnaires are needed to also maintain a more objective assessment. In conclusion, the patient will benefit most from an adaptive combination of regular traditional PRO questionnaire assessments and simplified symptom recording.

Standards of care for CFTR variant-specific therapy (including modulators) for people with cystic fibrosis.

Cystic fibrosis (CF) has entered the era of variant-specific therapy, tailored to the genetic variants in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. CFTR modulators, the first variant-specific therapy available, have transformed the management of CF. The latest standards of care from the European CF Society (2018) did not include guidance on variant-specific therapy, as CFTR modulators were becoming established as a novel therapy. We have produced interim standards to guide healthcare professionals in the provision of variant-specific therapy for people with CF. Here we provide evidence-based guidance covering the spectrum of care, established using evidence from systematic reviews and expert opinion. Statements were reviewed by key stakeholders using Delphi methodology, with agreement (≥80%) achieved for all statements after one round of consultation. Issues around accessibility are discussed and there is clear consensus that all eligible people with CF should have access to variant-specific therapy.

The influence of the COVID-19 pandemic on the prescription of multiple sclerosis medication in Germany.

BACKGROUND: Real-word evidence from diverse data sources is increasingly important in terms of generating rapid insights to effectively manage patient populations, especially during major public health disruptions such as the ongoing COVID-19 pandemic. Patients with chronic and inflammatory diseases - such as multiple sclerosis (MS) - were reported to experience potentially negative effects due to the use of immunosuppressive drugs in combination with a COVID-19 infection. In this research, we explored the impact of the COVID-19 pandemic on medication use in patients with MS in Germany. METHODS: Patient-level pharmacy dispensing data from the Permea platform - covering approximately 44% of all community pharmacy dispensing in Germany - were analysed from 2019 - 2021. Longitudinal use patterns of MS medication and antidepressants and patient demographics were assessed. Daily variation in MS medication use was specifically studied around the dates of the first and second lockdowns in Germany. RESULTS: We included data from 539,400 prescriptions which included at least 1 MS drug. The medication data showed a stable level of monthly prescriptions for MS medication at 2.02 ± 0.03 prescriptions per pharmacy during the study period. Although there was a sharp increase in daily prescriptions before the first lockdown (from an average 660.08 ± 137.59 daily prescriptions in the observed period to a maximum dispensing number of 998 daily prescriptions), the overall number of prescriptions remained at pre-pandemic levels (603 ± 90.31 daily prescriptions in 2019). Similar trends were observed for monthly co-prescribed antidepressant use per pharmacy (0.10 ± 0.01 in 2019-0.11 ± 0.02 in 2020). CONCLUSION: Throughout the COVID-19 pandemic, the use of MS medications and co-prescribed antidepressants was stable. These insights from real-world data demonstrate the value of evidence-based insights for managing patient care.

Real-world demographic patterns of users of a digital primary prevention service for diabetes.

Rapid urbanization has led to an exponential increase in lifestyle-associated metabolic disorders presenting a huge socioeconomic burden. Waya is a digital prevention program that guides overweight and obese individuals to maintain a healthy lifestyle through exercise, diet, and educational videos. Objectives and aims: We aimed to study the demographic patterns of the Waya cohort and examine the prevalence of diabetes (the most common lifestyle-associated metabolic disorder) and its risk factors in comparison to the GEDA 2014/2015-European Health Interview Survey population. Methods: Waya participants who registered by 1 October 2020 and who answered at least one health survey question were included in this study. Factors such as obesity, hypertension, and diabetes between the two populations were compared using Chi-square test. Results: Of the 837 participants, 86.1% were women. The proportion of obese participants was higher in Waya than in the German Health Update (GEDA) cohort (women: 39.4% vs. 18%, P < 0.05; men: 37.1% vs. 18.3%, P < 0.05), whereas the proportion of participants with hypertension (women: 12.1% vs. 30.9% in GEDA, P < 0.05; men: 22.4% vs. 32.8% in GEDA, P < 0.05) was lower. The proportion of women with diabetes was low in our cohort (3.9% vs. 7% in GEDA, P < 0.05); however, the proportion of men with diabetes remained the same between the two groups. We observed significant differences between the GEDA and Waya cohorts due to changes in the prevalence pattern over time or target bias of the digital program. Conclusion: These findings showcase the usability of Waya in collecting real-world insights, which will be beneficial in monitoring the prevalence of chronic metabolic disorders and associated risk factors over time.

Demographic Patterns of MS Patients Using BRISA: An MS-Specific App in Germany.

BACKGROUND: Multiple sclerosis (MS) is a chronic, progressive neurological autoimmune disease impacting quality of life. BRISA is an app designed to help MS patients in Germany track their disease course by symptom-monitoring. This study aimed to understand demographic and health-related characteristics of BRISA users. METHODS: Demographic data provided by 2095 users were analyzed to describe characteristics such as sex, age, type of MS, and medication. The distribution of tracked symptoms based on age and time since diagnosis were studied. Furthermore, the covariance of specific symptom pairs was analyzed. RESULTS: BRISA users are predominantly female and between 26 and 55 years old. Relapsing-remitting MS was the most prevalent form of MS. First-line category 1 drugs were most frequently used, followed by high-efficacy category 3 drugs (e.g., monoclonal antibodies). The relative frequencies of use of category 1 and category 2 drugs (e.g., spingosine-1-phosphate-receptor modulators) significantly altered with time since diagnosis. Fatigue, concentration disorders, tingling, forgetfulness, and pain were the top five symptoms affecting users. CONCLUSION: The results highlight the diversity among MS patients and the need for extensive cohort characterization in the real-world scenario. In-depth analysis could help in identifying novel insights that could aid in disease management.

A retrospective real-world observational pilot analysis of Waya: a self-monitoring fitness app in Germany.

The increasing prevalence of lifestyle-driven metabolic disorders poses a heavy burden on the healthcare system. Several low-cost, easily accessible, and effective weight loss interventions are being developed to improve this situation. Waya is one such German digital application that guides users to reach their desired weight in a healthy manner, by monitoring their eating habits and physical activity levels. In this retrospective real-world observational pilot study, we aimed to identify if the use of Waya helps in reducing weight as intended and the underlying factors associated with it. Methods: Data from healthy overweight or obese participants who provided their weight information and answered the short form of the Weight Efficacy Lifestyle Questionnaire and the International Physical Activity Questionnaire activity questionnaires once before the completion of the first module (baseline) were compared with data provided after the beginning of the last module. Age and sex-based distribution were studied and the correlation between nutrition, physical activity, and weight was analyzed. Results: Waya participants showed an improvement in nutritional behavior, physical activity levels, and weight reduction compared with baseline. These changes were independent of age and sex. Weight loss mainly correlated with improvements in nutritional behavior but not physical activity. Conclusion: The results from our pilot study showed that Waya is beneficial in bringing about short-term weight loss mainly through behavioral changes in nutrition. Although physical activity levels improved, its influence on weight loss was not apparent.

Mitochondrial molecular genetic results in a South African cohort: divergent mitochondrial and nuclear DNA findings.

AIMS: Mitochondrial diseases form one of the largest groups of inborn errors of metabolism. The birth prevalence is approximately 1/5000 in well-studied populations, but little has been reported from Sub-Saharan Africa. The aim of this study was to describe the genetics underlying mitochondrial disease in South Africa. METHODS: An audit was performed on all mitochondrial disease genetic testing performed in Cape Town, South Africa. RESULTS: Of 1614 samples tested for mitochondrial DNA (mtDNA) or nuclear DNA (nDNA) variants in South Africa between 1994 and 2019, there were 155 (9.6 %) positive results. Pathogenic mtDNA variants accounted for 113 (73%)/155, from 96 families. Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes, 37 (33%)/113, Leber's hereditary optic neuropathy, 26 (23%)/113, and single large mtDNA deletions, 22 (20%)/113, accounted for 76%. Thirty eight of 42 nDNA-positive results were homozygous for the MPV17 pathogenic variant c.106C>T (p.[Gln36Ter, Ser25Profs*49]) causing infantile neurohepatopathy, one of the largest homozygous groups reported in the literature. The other nDNA variants were in TAZ1, CPT2, BOLA3 and SERAC1. None were identified in SURF1, POLG or PDHA1. CONCLUSIONS: Finding a large group with a homozygous nuclear pathogenic variant emphasises the importance of looking for possible founder effects. The absence of other widely described pathogenic nDNA variants in this cohort may be due to reduced prevalence or insufficient testing. As advances in therapeutics develop, it is critical to develop diagnostic platforms on the African subcontinent so that population-specific genetic variations can be identified.

Incorporating Internal and External Training Load Measurements in Clinical Decision Making After ACL Reconstruction: A Clinical Commentary.

BACKGROUND AND PURPOSE: Poor outcomes after anterior cruciate ligament reconstruction (ACLr), including the relatively high risk of suffering a subsequent ACL injury, suggest the need to optimize rehabilitation and return-to-sport testing. The purpose of this commentary is to introduce clinicians to the concept of monitoring training load during rehabilitation, to review methods of quantifying internal and external loads, and to suggest ways that these technologies can be incorporated into rehabilitation progressions and return-to-sport decisions after anterior ACLr. DESCRIPTION OF TOPIC WITH RELATED EVIDENCE: Quantifying and identifying the effects of training load variables, external (distance, impacts, decelerations) and internal (heart rate, heart rate variability) workload, during rehabilitation can indicate both positive (improved physical, physiological, or psychological capacity) or negative (heightened risk for injury or illness) adaptations and allow for the ideal progression of exercise prescription. When used during return-to-sport testing, wearable technology can provide robust measures of movement quality, readiness, and asymmetry not identified during performance-based testing. DISCUSSION / RELATION TO CLINICAL PRACTICE: Researchers have reported the actual in-game demands of men and women of various ages and competition levels during multi-directional sport. Wearable technology can provide similar variables during rehabilitation, home exercise programs, and during on-field transition back to sport to ensure patients have met the expected fitness capacity of their sport. Additionally, clinicians can use internal load measures to objectively monitor patient's physiological responses to rehabilitation progressions and recovery rather than relying on subjective patient-reported data. LEVEL OF EVIDENCE: 5.

Growth, Body Composition, and Lung Function in Prepubertal Children with Cystic Fibrosis Diagnosed by Newborn Screening.

BACKGROUND: Children with cystic fibrosis (CF) are at risk of altered body composition (BC). Newborn screening (NBS) may lead to improved BC outcomes. We investigated BC and its relationship with lung function in prepubertal children diagnosed with CF by NBS. Secondary aims explored predictors of fat-free mass (FFM) and lung function. METHODS: Thirty-seven screened (non-meconium ileus) children with CF (20 boys) born 2007-2012 had a dual-energy x-ray absorptiometry scan at 5-8 years to determine whole-body (WB) and appendicular BC. Anthropometry was performed and routine spirometry recorded. Results were converted to z-scores, height-adjusted (fat mass index [FMI] and FFM index [FFMI]) and compared with population mean values. Predictors of forced expiratory volume in 1 second (FEV1 ) were assessed using linear regression. RESULTS: Height, body mass index (BMI), and FEV1 were within normal limits, however, weight and BC were significantly low compared with reference data (weight, P = .03; WB FMI, P = .001; WB FFMI, P = .009). Gender differences were detected, with lower appendicular BC in boys and lower weight, BMI, and BC in girls. The association between FEV1 and WB FFMI (r = 0.38; P = .02) was stronger than with BMI (r = 0.29; P = .08). WB FFMI was the only significant predictor of FEV1 in a multivariable model (95% CI, 0.11-0.99; P = .016). CONCLUSION: In this NBS CF population, gender differences in growth and BC were apparent despite preserved lung function. These results support BC assessment in prepubertal children, particularly girls, with an opportunity to direct interventions to optimize FFM.

INCORPORATING WORKLOAD MEASURES INTO REHABILITATION AFTER ANTERIOR CRUCIATE LIGAMENT RECONSTRUCTION: A CASE REPORT.

BACKGROUND: and purpose: Second anterior cruciate ligament (ACL) injury rates continue to be high, with a majority of injuries occurring soon after return-to-play, potentially because athletes may not be ready for the external load demands of the sport. Load metrics, tracked through wearable technology, may provide complementary information to standard limb symmetry indices in the return-to-play decision making process. The purpose of this case report was to quantify and monitor load using innovative technology during physical therapy rehabilitation after ACL reconstruction (ACLr) and compare to normative sport participation data.Case Description: The subject was a 12-year-old female soccer player that suffered an ACL injury followed by surgical reconstruction with a hamstring autograft and standard rehabilitation. Single-leg hop performance, isokinetic strength, and external loads (using wearable technology) were measured longitudinally during rehabilitation and analyzed at the time of return-to-play.Outcomes: The subject successfully achieved >90% LSI for isometric quadriceps strength (week 14), single leg hop battery (week 23), and isokinetic hamstrings (week 26) and quadriceps (week 31) strength by the time of return-to-play (week 39). At the time of return to play, external load metrics indicated that the subject's most intense rehabilitation session consisted of 36% less frequent movements, 38% lower total distances, and activity durations that were 29% lower than the expected demands of a match. DISCUSSION: Standard rehabilitation may underload patients relative to required sport demands. Measuring external load during the rehabilitation period may help clinicians adequately progress workload to the necessary demands of the patient's sport. With the current emphasis on restoring limb symmetry, clinicians may need to shift focus towards load preparation when returning a patient to their sport.Level of Evidence: 4Keywords: anterior cruciate ligament, load, rehabilitation, return to play, step count, movement system.

A novel role for myeloid endothelin-B receptors in hypertension.

AIMS: Hypertension is common. Recent data suggest that macrophages (Mφ) contribute to, and protect from, hypertension. Endothelin-1 (ET-1) is the most potent endogenous vasoconstrictor with additional pro-inflammatory properties. We investigated the role of the ET system in experimental and clinical hypertension by modifying Mφ number and phenotype. METHODS AND RESULTS: In vitro, Mφ ET receptor function was explored using pharmacological, gene silencing, and knockout approaches. Using the CD11b-DTR mouse and novel mice with myeloid cell-specific endothelin-B (ETB) receptor deficiency (LysMETB-/-), we explored the effects of modifying Mφ number and phenotype on the hypertensive effects of ET-1, angiotensin II (ANG II), a model that is ET-1 dependent, and salt. In patients with small vessel vasculitis, the impacts of Mφ depleting and non-depleting therapies on blood pressure (BP) and endothelial function were examined. Mouse and human Mφ expressed both endothelin-A and ETB receptors and displayed chemokinesis to ET-1. However, stimulation of Mφ with exogenous ET-1 did not polarize Mφ phenotype. Interestingly, both mouse and human Mφ cleared ET-1 through ETB receptor mediated, and dynamin-dependent, endocytosis. Mφ depletion resulted in an augmented chronic hypertensive response to both ET-1 and salt. LysMETB-/- mice displayed an exaggerated hypertensive response to both ET-1 and ANG II. Finally, in patients who received Mφ depleting immunotherapy BP was higher and endothelial function worse than in those receiving non-depleting therapies. CONCLUSION: Mφ and ET-1 may play an important role in BP control and potentially have a critical role as a therapeutic target in hypertension.

Evaluations of Urban Sovereign Citizens' Competency to Stand Trial.

There are few studies of sovereign citizens undergoing competency-to-stand-trial evaluations and little has been written about African-American or urban sovereign citizens. In this study, we examined competency-to-stand-trial reports of 36 New York City defendants who declared themselves to be sovereign citizens during their evaluations. All were men and 33 were African American. The majority denied recent or remote histories of psychiatric hospitalizations or substance use. Sixty-nine percent were deemed competent. Compared with those deemed competent, those deemed not competent were significantly more likely to have diagnosed psychotic disorders and to have reported histories of psychiatric hospitalizations. The 36 who declared themselves sovereign citizens were compared with 200 who did not, from a study conducted in the same forensic clinic. The sovereign citizens were significantly more likely to be male, African American, and high school graduates and were significantly less likely to report a history of psychiatric hospitalization or substance use. Compared with the nonsovereign citizens, they were less likely to receive a diagnosis of psychotic or mood disorders during the competency evaluation and were more likely to be deemed competent. Included are suggestions to assist forensic examiners conducting evaluations of these difficult cases.

Hyperbaric oxygen therapy for cerebral air gas embolism following orthotopic heart transplant: case report.

Air gas embolism (AGE) is a rare complication of cardiac surgery, with high morbidity and mortality. We present a case of suspected AGE following orthotopic heart transplant. The patient received hyperbaric oxygen therapy with near-complete resolution of symptoms at follow-up. This case exemplifies the difficulty in diagnosis of AGE, the considerations involved in the treatment of a critical care patient in a hyperbaric chamber, and utility in treating a patient for AGE even after a delay in diagnosis.

Competency to stand trial evaluations in a multicultural population: Associations between psychiatric, demographic, and legal factors.

Data were examined from an archival sample of Competency to Stand Trial (CST) reports of 200 consecutive New York City pre-trial defendants evaluated over a five-month period. Approximately a fourth of defendants in the present study were immigrants; many required the assistance of interpreters. The examiners conducting the CST evaluation diagnosed approximately half of the defendants with a primary diagnosis of a psychotic disorder and deemed over half not competent. Examiners reached the same conclusion about competency in 96% of cases, about the presence of a psychotic disorder in 91% of cases, and affective disorder in 85% of cases. No significant differences between psychologists and psychiatrists were found for rates of competency/incompetency opinions. Compared to those deemed competent, defendants deemed not competent had significantly higher rates of prior psychiatric hospitalization and diagnosis of psychotic illness at the time of the CST evaluation but lower rates of reported substance abuse.

An unusual cause for epigastric pain in pregnancy. Spontaneous uterine rupture with herniation of the amniotic sac in a 33-week primigravida.

A 29-year-old in vitro fertilisation patient presented at 33 weeks of gestation with abdominal pain. An abdominal ultrasound revealed a cystic lesion adjacent to the fundus. During caesarean section, a defect at the fundus was identified with herniation of the amniotic sac through this defect. There were no complications postoperatively and the patient made an unremarkable recovery. With at least one maternal death reported in the most recent confidential enquiry into maternal death, uterine rupture is an obstetric emergency and can have catastrophic outcomes. The incidence of uterine rupture as a result of previous perforation is unclear with little published data and few case reports. Cases of uterine rupture after perforation following hysteroscopic resection of fibroids, uterine septum are well published but the authors found no known previous cases related to laparoscopy. Counselling patients post perforation should include discussion regarding the management of future pregnancies and the risk of uterine rupture.

Glucocorticoid receptor is required for foetal heart maturation.

Glucocorticoids are vital for the structural and functional maturation of foetal organs, yet excessive foetal exposure is detrimental to adult cardiovascular health. To elucidate the role of glucocorticoid signalling in late-gestation cardiovascular maturation, we have generated mice with conditional disruption of glucocorticoid receptor (GR) in cardiomyocytes and vascular smooth muscle cells using smooth muscle protein 22-driven Cre recombinase (SMGRKO mice) and compared them with mice with global deficiency in GR (GR(-/-)). Echocardiography shows impaired heart function in both SMGRKO and GR(-/-) mice at embryonic day (E)17.5, associated with generalized oedema. Cardiac ultrastructure is markedly disrupted in both SMGRKO and GR(-/-) mice at E17.5, with short, disorganized myofibrils and cardiomyocytes that fail to align in the compact myocardium. Failure to induce critical genes involved in contractile function, calcium handling and energy metabolism underpins this common phenotype. However, although hearts of GR(-/-) mice are smaller, with 22% reduced ventricular volume at E17.5, SMGRKO hearts are normally sized. Moreover, while levels of mRNA encoding atrial natriuretic peptide are reduced in E17.5 GR(-/-) hearts, they are normal in foetal SMGRKO hearts. These data demonstrate that structural, functional and biochemical maturation of the foetal heart is dependent on glucocorticoid signalling within cardiomyocytes and vascular smooth muscle, though some aspects of heart maturation (size, ANP expression) are independent of GR at these key sites.

A pilot outreach physiotherapy and dietetic quality improvement initiative reduces IV antibiotic requirements in children with moderate-severe cystic fibrosis.

BACKGROUND: At our hospital the current model of care for children with moderate-severe CF is focused on intensive inpatient intervention, regular outpatient clinic review and specialist outreach care as required. An alternative model providing more regular physiotherapy and dietetic outreach support, in addition to these specialist services, may be more effective. METHODS: 16 children (4 male; 12 female; mean age 10.9±2.93; range 4-15 years) who required >40days of IV antibiotics in the 12-months pre-intervention were enrolled. Physiotherapy included weekly-supervised exercise sessions, alongside regular review of home physiotherapy regimens. Dietetic management included 1-2 monthly monitoring of growth, appetite, intake and absorption, and nutrition education sessions. RESULTS: There was a 23% reduction in inpatient IV antibiotic requirement and 20% reduction in home IV antibiotic requirement during the intervention year. Cost-benefit analyses showed savings of £113,570. VO(2Peak) increased by 4.9 ml·kg·min(-1) (95%CI 1.01 to 8.71; p=0.02), and 10 m-MSWT distance and increment achieved increased by 229 m (95%CI 109 to 350; p<0.001) and 2 levels (95%CI 1 to 3; p<0.002) respectively. No significant differences in physiological and patient reported outcomes were demonstrated, although there was a possible trend towards improvement in outcomes when compared to the pre-intervention year. CONCLUSION: This pilot programme demonstrated a reduction in IV and admission requirements with a cost benefit in a small group of children with moderate-severe CF. A fully powered clinical trial is now warranted.

Glutaric aciduria type 1 in South Africa-high incidence of glutaryl-CoA dehydrogenase deficiency in black South Africans.

Glutaric Aciduria type 1 (GA 1) is an inherited disorder of lysine and tryptophan catabolism that typically manifests in infants with acute cerebral injury associated with intercurrent illness. We investigated the clinical, biochemical and molecular features in 14 known GA 1 patients in South Africa, most of whom were recently confirmed following the implementation of sensitive urine organic acid screening at our laboratory. Age at diagnosis ranged from 3days to 5years and poor clinical outcome reflected the delay in diagnosis in all but one patient. Twelve patients were unrelated black South Africans of whom all those tested (n=11) were found homozygous for the same A293T mutation in the glutaryl-CoA dehydrogenase (GCDH) gene. Excretion of 3-hydroxyglutarate (3-OHGA) was >30.1µmol/mmol creatinine (reference range <2.5) in all cases but glutarate excretion varied with 5 patients considered low excretors (glutarate <50µmol/mmol creatinine). Fibroblast GCDH activity was very low or absent in all of five cases tested. Heterozygosity for the A293T mutation was found 1 in 36 (95% CI; 1/54 - 1/24) unrelated black South African newborns (n=750) giving a predicted prevalence rate for GA 1 of 1 in 5184 (95% CI; 1/11664 - 1/2304) in this population. GA 1 is a treatable but often missed inherited disorder with a previously unrecognised high carrier frequency of a single mutation in the South African black population.

A pilot study to investigate patients reported knowledge, awareness, and beliefs on health care-associated infection.

BACKGROUND: Health care-associated infections (HCAIs) remain a concern for patients, staff, and health care organizations. There is a lack of relevant literature on patients' views and opinions of infection control services. METHOD: A descriptive study of 110 patients was undertaken utilizing a developed questionnaire to investigate patients' knowledge, perceptions, and beliefs around HCAIs. RESULTS: Respondents believed they were well aware of the risks of HCAI before hospital admission, but their knowledge on routes of transmission and prevention of infection was poor. Twenty-eight percent of the respondents were able to name Methicillin-resistant Staphylococcus aureus (MRSA) as contributing to HCAIs. Patients' main sources of information about infections were newspapers and television. CONCLUSION: Patients have a high level of awareness of the risk of HCAI but have little knowledge about how infections spread or about their prevention.