Congenital Telangiectatic Erythema: Scoping Review.

BACKGROUND: Congenital telangiectatic erythema (CTE), also known as Bloom syndrome, is a rare autosomal recessive disorder characterized by below-average height, a narrow face, a red skin rash occurring on sun-exposed areas of the body, and an increased risk of cancer. CTE is one of many genodermatoses and photodermatoses associated with defects in DNA repair. CTE is caused by a mutation occurring in the BLM gene, which causes abnormal breaks in chromosomes. OBJECTIVE: We aimed to analyze the existing literature on CTE to provide additional insight into its heredity, the spectrum of clinical presentations, and the management of this disorder. In addition, the gaps in current research and the use of artificial intelligence to streamline clinical diagnosis and the management of CTE are outlined. METHODS: A literature search was conducted on PubMed, DOAJ, and Scopus using search terms such as "congenital telangiectatic erythema," "bloom syndrome," and "bloom-torre-machacek." Due to limited current literature, studies published from January 2000 to January 2023 were considered for this review. A total of 49 sources from the literature were analyzed. RESULTS: Through this scoping review, the researchers were able to identify several publications focusing on Bloom syndrome. Some common subject areas included the heredity of CTE, clinical presentations of CTE, and management of CTE. In addition, the literature on rare diseases shows the potential advancements in understanding and treatment with artificial intelligence. Future studies should address the causes of heterogeneity in presentation and examine potential therapeutic candidates for CTE and similarly presenting syndromes. CONCLUSIONS: This review illuminated current advances in potential molecular targets or causative pathways in the development of CTE as well as clinical features including erythema, increased cancer risk, and growth abnormalities. Future studies should continue to explore innovations in this space, especially in regard to the use of artificial intelligence, including machine learning and deep learning, for the diagnosis and clinical management of rare diseases such as CTE.

Sex differences in acute telestroke care: more to the story.

Background: Previous studies have shown sex differences in stroke care. Female patients have both lower thrombolytic treatment rates with OR reported as low as 0.57 and worse outcomes. With updated standards of care and improved access to care through telestroke, there is potential to reduce or alleviate these disparities. Methods: Acute stroke consultations seen by TeleSpecialists, LLC physicians in the emergency department in 203 facilities (23 states) from January 1, 2021 to April 30, 2021 were extracted from the Telecare by TeleSpecialists™ database. The encounters were reviewed for demographics, stroke time metrics, thrombolytics candidate, premorbid modified Rankin Score, NIHSS score, stroke risk factors, antithrombotic use, admitting diagnosis of suspected stroke, and reason not treated with thrombolytic. The treatment rates, door to needle (DTN) times, stroke metric times, and variables of treatment were compared for females and males. Results: There were 18,783 (10,073 female and 8,710 male) total patients included. Of the total, 6.9% of females received thrombolytics compared to 7.9% of males (OR 0.86, 95% CI 0.75-0.97, p = 0.006). Median DTN times were shorter for males than females (38 vs. 41 min, p < 0.001). Male patients were more likely to have an admitting diagnosis of suspected stroke, p < 0.001. Analysis by age showed the only decade with significant difference in thrombolytics treatment rate was 50-59 with increased treatment of males, p = 0.047. When multivariant logistic regression analysis was performed with stroke risk factors, NIHSS score, age, and admitting diagnosis of suspected stroke, the adjusted odds ratio for females was 0.9 (95% CI 0.8, 1.01), p = 0.064. Conclusion: While treatment differences between sexes existed in the data and were apparent in univariate analysis, no significant difference was seen in multivariate analysis once stroke risk factors, age, NIHSS score and admitting diagnosis were taken into consideration in the telestroke setting. Differences in rates of thrombolysis between sexes may therefore be reflective of differences in risk factors and symptomatology rather than a healthcare disparity.

A Rare Presentation of Duplicate Superior Vena Cava Precipitating Premature Atrial Contractions: A Case Report and a Review of the Literature.

Millions of central lines are placed each year worldwide for life-saving measures. We present a case of left internal jugular (IJ) triple lumen catheter (TLC) placement for life-saving vasopressors, which appeared to be in the left mediastinum after a confirmed chest X-ray. After correlation with a previous MRI of the heart with and without contrast, duplication of the superior vena cava (SVC), also known as persistent left SVC (PLSVC), was discovered. PLSVC often causes no symptoms to affected individuals and is usually first found as an incidental finding discovered during thoracic surgeries, cardiovascular interventional procedures, and central line insertions. Placement of TLC or central venous catheter (CVC) can be challenging in such patients and may lead to life-threatening complications such as severe arrhythmias, cardiogenic shock, pneumothorax, and tamponade. Knowing such anomalies can prevent unnecessary catheter removal and help determine the origin of some arrhythmias and dilated heart chambers in these patients.

The impact of race and ethnicity on acute telestroke care: A multistate experience.

INTRODUCTION: Previous analyses suggest that ethnic and racial differences exist in acute stroke care including thrombolytic treatment rates. The current study evaluates ethnic or racial differences in acute stroke treatment within a multi-state telestroke program. METHODS: Acute telestroke consultations seen in the Emergency Department in 203 facilities and 23 states were extracted from the Telecare by TeleSpecialistsTM database. Cases were reviewed for age, race, ethnicity, sex, last known normal time, arrival time, treatment with thrombolytic therapy, door-to-needle (DTN) time, and baseline National Institutes of Health Stroke Scale score. Race was defined as Black, White, or Other; ethnicity was defined as Hispanic or non-Hispanic. RESULTS: The current study included 13,221 acute telestroke consultations consisting of 9890 White, 2048 Black, and 1283 patients classified as Other. A total of 934 patients were Hispanic and 12,287 patients were non-Hispanic. There were no statistically significant differences noted in thrombolytic treatment rates when comparing White (7.9%) patients with non-White patients (7.4%), p = 0.36, or comparing Black (8.1%) with non-Black patients (7.8%), p = 0.59. In addition, there were no statistically significant differences in treatment rates comparing Hispanic (6.3%) with non-Hispanic (7.9%) patients, p = 0.072. We noted no measurable differences in DTN times by race or ethnicity. CONCLUSIONS: Contrary to previous reports, we failed to detect any significant differences in thrombolytic treatment rates and DTN times by race or ethnicity among stroke patients in a multistate telestroke program. These findings support the hypothesis that telestroke may mitigate racial and ethnic disparities which may be attributable to local variability in stroke procedures or access to healthcare.

Evidence-Based Mechanical Ventilatory Strategies in ARDS.

Acute respiratory distress syndrome (ARDS) remains one of the leading causes of morbidity and mortality in critically ill patients despite advancements in the field. Mechanical ventilatory strategies are a vital component of ARDS management to prevent secondary lung injury and improve patient outcomes. Multiple strategies including utilization of low tidal volumes, targeting low plateau pressures to minimize barotrauma, using low FiO2 (fraction of inspired oxygen) to prevent injury related to oxygen free radicals, optimization of positive end expiratory pressure (PEEP) to maintain or improve lung recruitment, and utilization of prone ventilation have been shown to decrease morbidity and mortality. The role of other mechanical ventilatory strategies like non-invasive ventilation, recruitment maneuvers, esophageal pressure monitoring, determination of optimal PEEP, and appropriate patient selection for extracorporeal support is not clear. In this article, we review evidence-based mechanical ventilatory strategies and ventilatory adjuncts for ARDS.

Chronic Eosinophilic Pneumonia Masquerading as a Lung Mass.

Lung masses are becoming more common, and although most are tumors, benign or malignant, some are not solid masses. Many pathologies can present as lung nodules, including lung cancers, hamartomas, lung abscesses, granulomas, and eosinophilic pneumonia, to name a few. A 40-year-old woman with a long history of smoking presented with cough and left-sided chest pain. After multiple imaging studies, she was thought to have a lung malignancy; however, multiple biopsies proved this was not the case. The histology reports of 3 to 4 biopsies at separate times indicated chronic inflammation ongoing in the lungs without any cancer cells present. She was treated for chronic eosinophilic pneumonia with a resolution of symptoms. The purpose of this case report is to discuss a case that was initially thought to be a lung mass but found to be chronic eosinophilic pneumonia manifesting as a lung mass.

Telestroke: Maintaining Quality Acute Stroke Care During the COVID-19 Pandemic.

Introduction: The coronavirus disease 2019 (COVID-19) pandemic has significantly impacted acute stroke care globally. Decreased stroke presentations and concern for delays in acute stroke care have been identified. This study evaluated the impact of COVID-19 on the timely treatment of patients with thrombolytics at hospitals utilizing telestroke acute stroke services. Methods: Acute stroke consultations seen in 171 hospitals (19 states) via telestroke from December 1, 2019, to June 27, 2020, were extracted from the TeleCare™ database. The consults were divided into pre-COVID and COVID groups (March 15, 2020, start of COVID group). The consults were reviewed for age, sex, hospital, state, date seen, last known normal, arrival time, consult call time, needle time, thrombolytic candidate, and National Institutes of Health Stroke Scale (NIHSS) score. The total number of consults, median door to needle (DTN) time for emergency department (ED) patients, and call to needle (CTN) time for inpatients were calculated. Results: Pre-COVID, 15,226 stroke consults were evaluated compared with 11,105 in the COVID group, a 27% decrease. Pre-COVID, 1,071 ED patients (7.9%) received thrombolytics and 66 inpatients (4.0%), while COVID, 813 ED patients (8.2%) and 70 inpatients (5.7%). The median DTN time for ED patients pre-COVID was 42 (32, 55) versus 40 (31, 52) in the COVID group, with no statistically significant difference between groups. CTN time pre-COVID was 53 (35, 67) versus 46 (35, 61) in the COVID group, with no statistically significant difference between groups. Conclusions: Telestroke assessments allowed for uninterrupted acute stroke care and treatment stability despite nursing and other resource realignments triggered by the COVID-19 pandemic.

Anti-Synthetase Syndrome-Related Interstitial Lung Disease With Anti-PL-12 Antibodies.

Anti-synthetase syndrome usually comprises interstitial lung disease, myositis, arthralgias, and Raynaud phenomenon. The anti-PL-12 antibody is directed against the enzyme alanyl-tRNA synthetase and has been associated with interstitial lung disease in the absence of inflammatory myositis. We report the case of a 33-year-old woman with complaints of progressive dyspnea, a persistent dry cough, along with intermittent low-grade fever for a few months. A computed tomography (CT) scan of the chest showed the presence of patchy bilateral airspace opacities and infiltrates. It also showed significant mediastinal and hilar lymphadenopathy. Bronchoscopy with transbronchial biopsy was performed, and histopathology changes were consistent with connective tissue disease related to interstitial lung disease. Further workup revealed the presence of anti-PL-12 antibodies. This case illustrates a rare association of interstitial lung disease with the anti-PL-12 antibody.

Fabrication and characterisation of self-applicating heparin sodium microneedle patches.

The aim of this study was to develop heparin sodium loaded microneedle patches using different compositions of polyvinyl alcohol polymer and sorbitol. A vacuum micromolding technique was used to fabricate microneedle patches while heparin sodium was loaded into needle tips. Physical features of patches were evaluated by measuring thickness, width, folding endurance and swelling percentage. Patches were also characterised by optical microscopy and scanning electron microscopy to determine the microneedle length and surface morphologies. A preliminary assessment of the microneedle performance was studied by examining the in-vitro insertion to the parafilm and recording the in-vitro drug release profile. In-vivo activity of patches was confirmed by measuring activated partial thromboplastin time and histological examination of the micropierced skin tissues. Prepared patches were clear, smooth; uniform in appearance; with sharp pointed microprojections and remained intact after 1000 folding. The microneedles were stiffer in nature, as they reproduce microcavities in the parafilm membrane following hand pushing without any structural loss. Insertion study results showed successful insertion of microneedles into the parafilm. Disrupted stratum corneum evident from histological examination confirmed successful insertion of the microneedle without affecting the vasculature. In-vitro release study confirmed ∼92% release of the loaded drug within 120 min. A significant prolongation of activated partial thromboplastin time (4 folds as compared to negative control) was recorded following the application of heparin sodium loaded microneedle patch onto rabbit skin. In conclusion microneedles are a valuable drug delivery system, benefiting the patients with minimal skin invasion and also allowing self-administration of heparin sodium in a sustained release manner for the management of chronic ailments.

Harnessing the power of social media to support medical training during COVID-19.

Twitter offers a powerful means to share information, suggest ways to help and highlight useful initiatives during the global COVID-19 pandemic. We describe one successful Twitter campaign focusing on the role of medical students (#MedStudentCovid), led by the volunteer organisation Becoming A Doctor with support from leaders at the General Medical Council, Health Education England, NHS England and the World Health Organization.

Severe Myopericarditis in Diabetic Ketoacidosis-All Troponin are Not Myocardial Infarction.

Uncontrolled diabetes and acute coronary syndrome share a complex dynamic that results in significant ambiguity when interpreting biomarker elevations in this setting. This is concerning because myocardial infarction has been shown to be the most common cause of death in the first 24 hours of admission for uncontrolled diabetes. Literature shows that elevation in cardiac biomarkers in patients with uncontrolled diabetes could be from viral myopericarditis, although a clear clinical significance is still lacking.1 It is, however, clear that elevation in cardiac biomarkers portends a poor long-term prognosis in patients with uncontrolled diabetes mellitus. We present a rare case of myopericarditis in a middle-aged patient with uncontrolled diabetes. The patient had elevated troponin I level reaching a peak of 7.3 ng/mL with associated ST elevations on electrocardiography. Coronary angiogram was subsequently done revealing clean coronaries. To our knowledge, this is the first description of myopericarditis in uncontrolled diabetes without a known cause.

Twenty-five Years of Chronic Strongyloidiasis in an Immigrant.

Chronic strongyloidiasis is an infection of the tropical regions, caused by the nematode Strongyloides stercoralis. In the United States, patients are typically immigrants. The very long asymptomatic phase followed by the clinical presentation of the disease mimics asthma, chronic obstructive pulmonary disease (COPD), or inflammatory bowel disease (IBD) as in this case report. The inconsistency of eosinophilia and the low sensitivity of microscopic stool examination make chronic strongyloidiasis a disease that is frequently misdiagnosed in the United States. The use of corticosteroids in these misdiagnosed cases transforms chronic strongyloidiasis into disseminated strongyloidiasis or hyperacute syndrome, which leads to high mortality. Iatrogenic errors represent the essential cause of mortality due to chronic strongyloidiasis in the United States. We recommend a high index of suspicion of chronic strongyloidiasis when a physician approaches an immigrant presenting with symptoms mimicking asthma, COPD, and IBD with subcutaneous masses.

Feasibility and impact of a computerised clinical decision support system on investigation and initial management of new onset chest pain: a mixed methods study.

BACKGROUND: Clinical decision support systems (CDSS) can modify clinician behaviour, yet the factors influencing their effect remain poorly understood. This study assesses the feasibility and acceptability of a CDSS supporting diagnostic and treatment decisions for patients with suspected stable angina. METHODS: Intervention The Optimising Management of Angina (OMA) programme includes a CDSS guiding investigation and medication decisions for clinicians managing patients with new onset stable angina, based on English national guidelines, introduced through an educational intervention. Design and participants A mixed methods study i. A study of outcomes among patients presenting with suspected angina in three chest pain clinics in England before and after introduction of the OMA programme. ii. Observations of clinic processes, interviews and a focus group with health professionals at two chest pain clinics after delivery of the OMA programme. OUTCOMES: Medication and cardiovascular imaging investigations undertaken within six months of presentation, and concordance of these with the recommendations of the CDSS. Thematic analysis of qualitative data to understand how the CDSS was used. RESULTS: Data were analysed for 285 patients attending chest pain clinics: 106 before and 179 after delivery of the OMA programme. 40 consultations were observed, 5 clinicians interviewed, and a focus group held after the intervention. The proportion of patients appropriate for diagnostic investigation who received one was 50 % (95 CI 34-66 %) of those before OMA and 59 % (95 CI 48-70 %) of those after OMA. Despite high use of the CDSS (84 % of consultations), observations and interviews revealed difficulty with data entry into the CDSS, and structural and practical barriers to its use. In the majority of cases the CDSS was not used to guide real-time decision making, only being consulted after the patient had left the room. CONCLUSIONS: The OMA CDSS for the management of chest pain is not feasible in its current form. The CDSS was not used to support decisions about the care of individual patients. A range of barriers to the use of the CDSS were identified, some are easily removed, such as insufficient capture of cardiovascular risk, while others are more deeply embedded in current practice, such as unavailability of some investigations or no prescribing privileges for nurses.

Phage-directed synthesis of copper sulfide: structural and optical characterization.

The growth of crystalline copper sulfide using a viral template was investigated using sequential incubation in CuCl2 and Na2S precursors. Non-specific electrostatic attraction between a genetically-modified M13 bacteriophage and copper cations in the CuCl2 precursor caused phage agglomeration and bundle formation. Following the addition of Na2S, polydisperse nanocrystals 2-7 nm in size were found along the length of the viral scaffold. The structure of the copper sulfide material was identified as cubic anti-fluorite type Cu1.8S, space group Fm3[overline]m. Strong interband absorption was observed within the ultraviolet to visible range with an onset near 800 nm. Furthermore, free carrier absorption, associated with the localized surface plasmon resonance of the copper sulfide nanocrystals, was seen in the near infrared with absorbance maxima at 1060 nm and 3000 nm, respectively.

Falls in the inpatient rehabilitation facility.

Older adults are rehabilitated for a variety of conditions in an inpatient rehabilitation facility (IRF), and they are often at an increased risk for falling during their stay. This article (1) provides an overview of the incidence, prevalence, and impact of falls in facilities that provide inpatient rehabilitation; (2) provides some key factors to be considered in the assessment of the patient admitted to the IRF for risk factors associated with falling; and (3) identifies strategies that can help reduce the risk of falling in patients admitted to an IRF.

Reducing ventilator-associated pneumonia through advanced oral-dental care: a 48-month study.

OBJECTIVE: To determine the effect of implementing a comprehensive oral and dental care system and protocol on the rate of ventilator-associated pneumonia. METHODS: Patients more than 18 years old receiving mechanical ventilation for more than 48 hours in a medical intensive care unit at a university-affiliated medical center were studied in 2 consecutive 24-month periods. Patients in the group studied before the intervention (n = 779) had no oral assessments, no suctioning of the subglottic space, no toothbrushing, and suctioning of secretions in the oral cavity as needed. The group studied during the intervention (n = 759) included patients treated under a protocol whereby the oral cavity was assessed, deep suctioning was done every 6 hours, oral tissue cleansing was done every 4 hours or as needed, and toothbrushing was done twice daily. RESULTS: Compliance with protocol components exceeded 80%. The groups did not differ significantly in age, sex, or severity of illness. The rate of ventilator-associated pneumonia was 12.0 per 1000 ventilator days before the intervention and decreased to 8.0 per 1000 ventilator days during the intervention (P = .06). Duration of mechanical ventilation and length of stay in the intensive care unit differed significantly between groups, as did mortality. CONCLUSION: Our findings suggest that use of advanced tools, a comprehensive oral care protocol, and staff compliance with the protocol can significantly reduce rates of ventilator-associated pneumonia and associated costs.

Well-being of medical students and their awareness on substance misuse: a cross-sectional survey in Pakistan.

OBJECTIVE: To investigate psychological well-being and substance abuse among medical students in Pakistan. METHODS: A cross-sectional questionnaire-based survey was conducted in six medical colleges across Pakistan. Final-year medical students were interviewed by either a postgraduate trainee in psychiatry or a consultant psychiatrist. RESULTS: A total of 540 medical students were approached; 342 participated and the response rate was 64.5%. Mean age was 23.73 years (SD 2.45 years); 52.5% were male and 90% single. Two out of every five respondents reported that work/study at medical school affected their personal health and well-being. A considerable proportion of students were aware of alcohol and smoking as coping strategies for stress in medical students. The main factors causing stress were heavy workload (47.4%), relationship with colleagues (13.5%) and staff (11.9%). A total of 30% reported a history of depression and 15% among them had used an antidepressant. More than half were aware of depression in colleagues. The majority of respondents said that teaching provided on substance misuse in the areas of alcohol and illegal drugs, management/treatment of addiction, and models of addiction was poor. There was significant association (p = 0.044) between stress and awareness about alcohol as a coping strategy for stress among medical students. A significant negative association was also found between medical colleges in public sector (p = 0.052), female gender (p = 0.003) and well-being. CONCLUSION: The majority of the medical students reported a negative impact of heavy workload on their psychological well-being. Significant numbers of medical students think that substance misuse is a coping strategy for stress. Teaching on addiction/addictive substances is poor at undergraduate level in Pakistani medical colleges.

Psychiatric disorder, irritable bowel syndrome, and extra-intestinal symptoms in a population-based sample of twins.

OBJECTIVES: To determine, in a population-based sample of twin pairs, if extra-intestinal symptoms (EIS) are closely associated with both irritable bowel syndrome (IBS) and psychiatric disorders and whether such associations are explained on a genetic basis. METHODS: A random sample of twins between the ages of 44 and 64 years enrolled in the Minnesota Twins Registry completed the Modified Mayo Clinic Bowel Disease Questionnaire, a questionnaire on extra-intestinal symptoms, and the Psychiatric Diagnostic Screening Questionnaire. RESULTS: Of the 3,048 participants (51% response rate), 371 (12.2%) fulfilled Rome II criteria for IBS; 61 (16.4%) had a psychiatric disorder compared with 7.6% (n=204) of those without IBS (P<0.001). In regression analysis both IBS and psychiatric disorders were independently associated with the number of extra-intestinal symptoms (P<0.0005). Concordance rates for high EIS score were 30.0% for monozygote (MZ) twins and 16.7% in dizygote (DZ) twins (P=0.020) and the OR for concordance remained substantially higher for MZ than DZ twins after adjustment for psychiatric disorder and presence of IBS (6.82 (95% CI 4.45-10.45) and 2.71 (95% CI 1.69-4.37)). In MZ twins discordant for IBS, EIS and IBS were significantly associated (P=0.004) and psychiatric disorder and EIS were significantly associated (P=0.001). CONCLUSIONS: Extra-intestinal symptoms are independently associated with both IBS and psychiatric disorders. There is evidence that there is a genetic basis to EIS, but the association with IBS and psychiatric disorders is not primarily explained by genetic influences.