Comprehensive Care for Adults with Down Syndrome in Primary Care Settings.

This review article aims to bridge the knowledge gap in providing comprehensive care to adults with Down syndrome (DS) in primary care settings. Despite the increasing prevalence of adults with DS, there is a significant lack of familiarity and comprehensive guidelines for their health care among primary care physicians. This often results in subpar health promotion, preventive screenings, and individualized care. This article attempts to provide guidance for healthcare providers on previsit preparation, clinic visit characteristics, testing and screening considerations, and decision making/guardianship for adults with DS. By emphasizing a patient-centered approach, this review aims to enhance the quality of care, reduce associated morbidity and mortality, and ultimately improve the health outcomes of adults with DS.

Role of COPD in a case of fatal Aspergillus niger tracheobronchitis.

A man with chronic obstructive pulmonary disease (COPD) in his mid-60s was admitted for respiratory failure due to multifocal, necrotising pneumonia. Despite initial improvement with antimicrobial therapy, the patient developed hemoptysis and progressive infiltrates. Subsequent fungal cultures from his bronchoalveolar lavage were positive for Aspergillus niger and treatment with voriconazole was added for suspected invasive pulmonary aspergillosis (IPA). A repeat bronchoscopy revealed cobblestone lesions with mucosal friability throughout the lower trachea and bilateral mainstem bronchi. Endobronchial biopsy showed septated hyphae confirming the diagnosis of IPA. Despite appropriate therapy, the patient declined further and passed away on hospital day 11. Invasive infections with A. niger are infrequent, with a paucity of data on clinical course and outcomes. Our case adds to the current body of literature regarding the potential virulence of this species in patients with COPD.

Special Considerations for Management of Diabetes in Adult Patients with Intellectual and Developmental Disabilities.

Diabetes mellitus (DM) is a chronic health condition that is very prevalent worldwide. It has been demonstrated that individuals with intellectual and developmental disabilities (IDDs) are at a disproportionately high risk for developing diabetes. Persons with IDDs are estimated to be 2-3 times more likely to develop DM compared to the general population. The elevated risk of developing diabetes within the population of adults with IDDs is multifactorial and includes contributions from genetics, lifestyle, medication use and misuse, boundaries to appropriate medical care, a higher incidence of comorbid mental health disorders, and others. Further, inadequate screening for and management of diabetes for these patients results in heightened risk for adverse cardiovascular events and inferior health care outcomes. To improve patient outcomes for this unique patient population, health care providers need to be well trained in the optimal modalities of screening, diagnosis, and management of diabetes in adults with IDDs. This requires the development of effective diabetes intervention and health promotion programs aimed at patients with IDDs, utilizing a patient-centered approach to screening and management, and conducting further research to assess the impact of these interventions.

Bacterial pneumonia infection in pregnancy.

Bacterial pneumonia in pregnancy is the most common fatal non-obstetrical infection and is associated with poorer maternal and fetal outcomes. Risk factors include normal physiological and anatomic changes that occur during pregnancy. In this review, we will discuss the etiological pathogens of bacterial pneumonias in pregnancy and its common complications, including both maternal and fetal outcomes. We will also review the diagnosis and management of bacterial pneumonia in the outpatient and inpatient setting and highlight the major pregnancy and lactation considerations when choosing antibiotic therapies.

A Case Series of Secondary Spontaneous Pneumomediastinum and Pneumothorax in Severe COVID-19 Pneumonia.

Introduction Pneumomediastinum and pneumothorax are uncommon complications in COVID-19 patients. The exact prevalence, etiology, and outcomes are not well known. We report a case series of patients in our institution with COVID-19 related pneumomediastinum and pneumothorax and address these questions. Methods We conducted a single-center retrospective chart review of patients admitted at our institution with a positive polymerase chain reaction (PCR) confirming the diagnosis of COVID-19. A cohort of 500 potential study candidates was identified, of whom eight were investigated. Demographic data, hospital course, patient co-morbidities, and outcome data were collected. Results Eight patients were included in our study who were identified as having an event (i.e., pneumomediastinum and/or pneumothorax) during the specified timeframe. Overall, 62% of patients were on high-flow nasal cannula with an average FiO2 of >70%. The average oxygen saturation//fraction of inspired oxygen (SpO2/FiO2) ratio leading up to an event was 113.7286 (range: 101.11-130.66), and all of the patients not on mechanical ventilation met the criteria for acute respiratory distress syndrome (ARDS) based on the Kigali definition with SpO2/FiO2 < 315. The three patients who developed an event while requiring mechanical ventilation both had PaO2/FiO2 < 100, consistent with severe ARDS at the time of an event. The mean time in days, counted from the day of hospital admission until an event, was 10 days (range: 3-23 days). None of the cases had documented pulmonary parenchymal disease prior to developing COVID-19. To the best of our knowledge, these events were not iatrogenic in nature. Conclusion Secondary spontaneous pneumomediastinum and pneumothorax are rare albeit well-documented phenomena in hospitalized patients with COVID-19 infection. Interestingly, the majority of patients in our study were on high-flow nasal cannula at the time of an event. The majority of previously published data on this topic are on those who required positive pressure ventilation; however, there have been more recent papers that also describe these events in non-mechanically ventilated patients. The exact pathophysiology remains unknown, but it is likely multifactorial, and additional studies are needed to further evaluate this phenomenon.

Cystic Fibrosis and Sleep Circadian Rhythms.

Cystic fibrosis (CF) is due to a mutation in the cystic fibrosis transmembrane conductance regulator gene (CFTR), which leads to unusual water and chloride secretion across epithelial surfaces. The lungs are responsible for most morbidity, though other organs are frequently affected. Sleep abnormalities have long been recognized in CF. Abnormal ventilation and oxygenation, sinus disease, deconditioning due to muscle weakness and recurrent infections, and inflammation have been thought to play a role in sleep disorders in CF. However, there is evidence that CFTR gene dysregulation can affect circadian rhythms in CF. Early recognition and treatment of circadian rhythms may improve outcomes in CF.

Trending Weight Loss Between Usual Care and Bariatric Surgery Among Higher Weight Persons With Obstructive Sleep Apnea.

Background This study aimed to investigate the actual weight change documented as a goal of treatment after patients were newly diagnosed with obstructive sleep apnea (OSA). We hypothesized that patients with OSA and classified as overweight and obese based on BMI would fail to achieve significant weight loss over a two- to five-year period. Methodology This retrospective review included adults aged 18 years or older who were newly diagnosed with OSA in 2015, as indicated by a full nocturnal polysomnogram and using the 4% rule for the definition of hypopnea. Data collected were between January 01, 2015, and December 31, 2020. Patients received either usual care for weight reduction or bariatric surgery to assess the overall weight loss and identify barriers. Statistical analysis included independent t-tests, Mann-Whitney U tests and related samples McNemar change statistics, Cox proportional hazards regression, and Kaplan-Meier curves to analyze age, gender, ethnicity, and weight differences between usual care and bariatric surgery groups. Results The number of participants included for usual care and bariatric surgery was 100 and 24, respectively. Over five years, 87% of the usual care patients remained in the same BMI classification, 7% lowered their classification, and 6% raised theirs. For usual care patients, the average net weight per individual of 2.19 kg gained represented a 1.96% weight change. Bariatric patients lost an average net weight of 30.40 kg (22.39%). Cox proportional hazards regression showed that the overall model fit was statistically significant (χ2 = 55.40, degrees of freedom [df] = 9, and P-value < 0.001). The significant variables were time-dependent weight change and ethnicity. The Kaplan-Meier curve revealed that weight loss reduced over time in treatment. Conclusions This study confirmed that despite the direction to lose weight, only 7% of OSA patients lowered their BMI classification. Patient instruction and provider-driven weight loss strategies seem equally ineffective to achieve sustained weight reduction among high-risk groups. More research is needed to investigate optimal strategies that include interprofessional collaborative practices for sustained weight loss.

Sleep Disordered Breathing in Adults with Cerebral Palsy: What Do We Know So Far?

As advances in medicine continue to extend the lifespan of patients with cerebral palsy (CP), emphasis must be placed on evaluating patients for chronic health issues common in the general adult population. Sleep-disordered breathing (SDB) affects a large number of otherwise healthy adults and is even more common in individuals with disability. SDB includes the following subtypes: obstructive sleep apnea, central sleep apnea, and sleep-related hypoventilation/hypoxemia. SDB consequences include poor daytime functioning from sleepiness and an increased risk of cardiovascular morbidity and mortality. There is a paucity of data available in the literature about the association between SDB and CP in the adult population. More research is needed to understand the true prevalence and management strategies of SDB in patients with CP. This review focuses on three major subtypes of SDB: obstructive sleep apnea, central sleep apnea, and sleep-related hypoventilation/hypoxemia.

Managing Fungal Infections in Cystic Fibrosis Patients: Challenges in Clinical Practice.

Cystic Fibrosis (CF) is an autosomal recessive disease characterized by a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) protein. Impairment of the CFTR protein in the respiratory tract results in the formation of thick mucus, development of inflammation, destruction of bronchial tissue, and development of bacterial or fungal infections over time. CF patients are commonly colonized and/or infected with fungal organisms, Candida albicans or Aspergillus fumigatus, with prevalence rates ranging from 5% to 78% in the literature. Risk factors for acquiring fungal organisms include older age, coinfection with Pseudomonas aeruginosa, prolonged use of oral and inhaled antibiotics, and lower forced expiratory volume (FEV1). There are limited data available to differentiate between contamination, colonization, and active infection. Furthermore, the pathogenicity of colonization is variable in the literature as some studies report a decline in lung function associated with fungal colonization whereas others showed no difference. Limited data are available for the eradication of fungal colonization and the treatment of active invasive aspergillosis in adult CF patients. In this review article, we discuss the challenges in clinical practice and current literature available for laboratory findings, clinical diagnosis, and treatment options for fungal infections in adult CF patients.

Determinants of bilevel therapy in the management of obstructive sleep apnea.

BACKGROUND: The aim of this study was to investigate potential patient or polysomnogram (PSG) characteristics that can help determine who might benefit from bilevel positive airway pressure (BPAP) in the treatment of uncomplicated OSA. STUDY DESIGN: This was a single center, retrospective, observational study in which 19 patients who met our inclusion criteria for BPAP were matched to 40 patients in the control group. Data on patient baseline characteristics as well as PSG results were analyzed. RESULTS: Baseline patient and PSG characteristics were similar with the exception of shorter sleep time in the BPAP group, 290 min compared with 351 min (p = 0.005). Analysis of oxygen saturations revealed that the percent of total sleep time (TST) spent below 90% (SpO2 < 90%) was statistically higher in BPAP group (mean 21.4% ± 23.6%) compared with CPAP (mean 9.1% ± 11.1%, p = 0.045). For every 5% increase in TST at SpO2 < 90%, there is a 28% increase in the odds of BPAP prescription (OR = 1.276, 95%CI 1.029, 1.582, p = 0.027), and for every 10% increase, there is an increase of 63% (OR 1.627, 95%CI 1.058-2.502). The Hosmer-Lemeshow goodness-of-fit test revealed a good fit (p = 0.23). The AUC was 0.7. CONCLUSION: There is an association between duration of hypoxemia on the PSG and the likelihood of requiring BPAP for the treatment of uncomplicated OSA. More research is needed to understand the best patient-centered therapy when initiating PAP in the management of OSA.

Patient-related factors may influence nursing perception of sleep in the Intensive Care Unit.

OBJECTIVE: There exist conflicting data regarding the accuracy of ICU nurses accurately assessing patient sleep using validated questionnaires. Using the Richards-Campbell Sleep Questionnaire (RSQ), we hypothesize that patient factors might influence nursing perception of their sleep. METHODS: Patients in the ICU who met the inclusion criteria were asked to complete the sleep questionnaire, as were their nurses and intraclass correlation analysis was done. RESULTS: 38 paired patient-nurse surveys were included for analysis. The mean difference in total average score of the RSQ was not significantly different between patients and nurses. There was fair intraclass correlation by patient age, black race, and admission for respiratory illnesses. A good intraclass correlation existed for non-blacks and admission for non-respiratory reasons. Most striking was the intraclass correlation by sex, with poor intraclass correlation for women compared to an excellent correlation for men. CONCLUSION: The results of our study confirm that patients in our ICU have poor sleep with a fair intraclass correlation. When examined by patient related factor, the greatest divergence between patient and nursing perception of sleep in the ICU using the RCSQ was patient female sex. More research is needed in this area to better understand the divergence and improve sleep in the ICU.

Operator dependent factors implicated in failure of non-invasive positive pressure ventilation (NIPPV) for respiratory failure.

BACKGROUND: Non-invasive Positive Pressure Ventilation (NIPPV) is employed for the management of acute respiratory failure and studies have shown that it can prevent the need for endotracheal intubation, mechanical ventilation and associated complications. Given limited studies evaluating the factors, other than those related patient or underlying disease severity, that may lead to NIPPV failure, we performed this study to gain insight into current practices in terms of utilization of NIPPV and operator dependent factors that may possibly contribute to failure of NIPPV. METHOD: After institutional board review approval a retrospective chart review was performed of consecutive patients who were initiated on and failed NIPPV between January 2009 and December 2009. Data was recorded regarding baseline demographics, admission diagnosis, indications for NIPPV, presence of contraindications, type of NIPPV and initial settings, ABG analysis before and after initiation, whether a titration of the settings was performed or not, operator related factors that may have contributed to failure of NIPPV and clinical outcomes. RESULTS: Among 1095 patients screened, 111 failed NIPPV. The mean age was 60 years with 59% males. The most frequent indication for initiating NIPPV was COPD exacerbation (N = 27) followed by pneumonia (N = 26). CPAP was used in 5(6%) patients. Median inspiratory positive airway pressure (IPAP) and expiratory positive airway pressure (EPAP) setting were 10 and 5 cm of H2 O respectively. Three most common reasons for failure were an inappropriate indication (33%), Progression of underlying disease (30%) and lack of titration (23%). Overall mortality was 22%. Mortality was higher when NIPPV failure was seen among patients with an inappropriate indication or an overlooked contraindication compared to those with an appropriate indication (27% vs 17%). CONCLUSIONS: Excluding progression of underlying disease, operator dependent factors linked to NIPPV failure are; inappropriate indication, lack of adequate titration and an overlooked contraindication. Inappropriate utilization of NIPPV in respiratory failure is associated with higher mortality.

Is There Any Association between PEEP and Upper Extremity DVT?

Background. We hypothesized that positive end-exploratory pressure (PEEP) may promote venous stasis in the upper extremities and predispose to upper extremity deep vein thrombosis (UEDVT). Methods. We performed a retrospective case control study of medical intensive care unit patients who required mechanical ventilation (MV) for >72 hours and underwent duplex ultrasound of their upper veins for suspected DVT between January 2011 and December 2013. Results. UEDVT was found in 32 (28.5%) of 112 patients. Nineteen (67.8%) had a central venous catheter on the same side. The mean ± SD duration of MV was 13.2 ± 9.5 days. Average PEEP was 7.13 ± 2.97 cm H2O. Average PEEP was ≥10 cm H2O in 23 (20.5%) patients. Congestive heart failure (CHF) significantly increased the odds of UEDVT (OR 4.53, 95% CI 1.13-18.11; P = 0.03) whereas longer duration of MV (≥13 vs. <13 days) significantly reduced it (OR 0.29, 95% CI 0.11-0.8; P = 0.02). Morbid obesity showed a trend towards significance (OR 3.82, 95% CI 0.95-15.4; P = 0.06). Neither PEEP nor any of the other analyzed predictors was associated with UEDVT. Conclusions. There is no association between PEEP and UEDVT. CHF may predispose to UEDVT whereas the risk of UEDVT declines with longer duration of MV.

Sleep disorders in pregnancy.

Sleep disturbances are common in pregnancy and may be influenced by a multitude of factors. Pregnancy physiology may predispose to sleep disruption but may also result in worsening of some underlying sleep disorders, and the de novo development of others. Apart from sleep disordered breathing, the impact of sleep disorders on pregnancy, fetal, and neonatal outcomes is poorly understood. In this article, we review the literature and discuss available data pertaining to the most common sleep disorders in perinatal women. These include restless legs syndrome, insomnia, circadian pattern disturbances, narcolepsy, and sleep-disordered breathing.

Epworth sleepiness scale scores and adverse pregnancy outcomes.

PURPOSE: Snoring is associated with adverse pregnancy outcomes including gestational hypertensive disorders, gestational diabetes, and Cesarean deliveries. The purpose of this study was to assess whether excessive daytime sleepiness (EDS) assessed by Epworth Sleepiness Scale (ESS) increases the risk of these complications further. METHODS: Following institutional review board approval and informed consent, English-speaking women in the immediate postpartum period were systematically selected and recruited. Women answered a survey that included questions regarding symptoms of sleep-disordered breathing (SDB) using the multivariable apnea prediction index and excessive daytime sleepiness using ESS. Pregnancy and fetal outcomes were collected by review of medical records. Standard statistical analysis with multivariable logistic regression was performed. ESS was evaluated both as a continuous variable and with various cutoffs given that pregnant women are likely more sleepy at baseline than the general population. RESULTS: In patients who underwent planned Cesarean delivery, mean ESS was significantly higher than in those with uncomplicated vaginal delivery, even after adjusting for confounders (adjusted odds ratio (aOR), 1.08; 95 % CI, 1.01-1.15; p = 0.02). There was no significant association between EDS (defined as ESS of >10) and gestational diabetes or gestational hypertensive disorders in snorers or non snorers. However, a significant association with gestational diabetes was found in patients with an ESS of >16 compared to those with an ESS of ≤16, even after multiple adjustments (aOR, 6.82; 95 % CI, 1.19-39.27), but the number of subjects in an ESS of >16 category was small. CONCLUSIONS: There is an increased association between women with higher ESS and planned Cesarean delivery. Severe EDS was associated with gestational diabetes in pregnant women in a small sample size. Future studies in larger samples need to confirm the association of severe EDS and gestational diabetes and elucidate potential mechanisms of the links with adverse outcomes.

Effects of acute intermittent hypoxia on glucose metabolism in awake healthy volunteers.

Accumulating evidence suggests that obstructive sleep apnea is associated with alterations in glucose metabolism. Although the pathophysiology of metabolic dysfunction in obstructive sleep apnea is not well understood, studies of murine models indicate that intermittent hypoxemia has an important contribution. However, corroborating data on the metabolic effects of intermittent hypoxia on glucose metabolism in humans are not available. Thus the primary aim of this study was to characterize the acute effects of intermittent hypoxia on glucose metabolism. Thirteen healthy volunteers were subjected to 5 h of intermittent hypoxia or normoxia during wakefulness in a randomized order on two separate days. The intravenous glucose tolerance test (IVGTT) was used to assess insulin-dependent and insulin-independent measures of glucose disposal. The IVGTT data were analyzed using the minimal model to determine insulin sensitivity (S(I)) and glucose effectiveness (S(G)). Drops in oxyhemoglobin saturation were induced during wakefulness at an average rate of 24.3 events/h. Compared with the normoxia condition, intermittent hypoxia was associated with a decrease in S(I) [4.1 vs. 3.4 (mU/l)(-1).min(-1); P = 0.0179] and S(G) (1.9 vs. 1.3 min(-1)x10(-2), P = 0.0065). Despite worsening insulin sensitivity with intermittent hypoxia, pancreatic insulin secretion was comparable between the two conditions. Heart rate variability analysis showed the intermittent hypoxia was associated with a shift in sympathovagal balance toward an increase in sympathetic nervous system activity. The average R-R interval on the electrocardiogram was 919.0 ms during the normoxia condition and 874.4 ms during the intermittent hypoxia condition (P < 0.04). Serum cortisol levels after intermittent hypoxia and normoxia were similar. Hypoxic stress in obstructive sleep apnea may increase the predisposition for metabolic dysfunction by impairing insulin sensitivity, glucose effectiveness, and insulin secretion.

Induction of autoantibodies during prolonged treatment with infliximab.

OBJECTIVE: To determine the frequency and correlates of autoantibody formation in patients with rheumatic diseases treated with infliximab in a routine clinical setting. METHODS: All patients receiving at least 5 infusions of infliximab, and with anticipated continuation, were prospectively evaluated for the development of the following antibodies: antinuclear antibody (ANA), anti-DNA, anti-Sm, anti-RNP, anti-SSA and anti-SSB. Correlates with pharmacologic treatments, response to infliximab, and adverse events were assessed. RESULTS: Seventy-six percent of 42 patients receiving prolonged treatment with infliximab developed new autoantibodies, and these persisted in 57%. The most common new autoantibody was ANA in 45%, followed by anti-DNA in 33%, anti-Sm in 31%, and anti-RNP in 29%. New autoantibody formation was associated with both a greater number of infusions (p = 0.015) and a higher total dose of infliximab infused (p = 0.047). No other treatment, disease characteristic, or loss of efficacy to infliximab discriminated between those developing antibodies compared to those without new antibody formation. No patient developed clinical signs of a new connective tissue disease. CONCLUSION: Autoantibody formation is seen commonly in patients receiving prolonged treatment with infliximab. Concomitant immunosuppressive treatments did not preclude the formation of antibodies. The clinical significance of antibody formation remains to be determined.