Noonan syndrome and pregnancy outcomes

Background: Noonan syndrome is a genetic disorder with high prevalence of congenital heart defects, such as pulmonary stenosis, atrial septal defect and hypertrophic cardiomyopathy. Scarce data exists regarding the safety of pregnancy in patients with Noonan syndrome, particularly in the context of maternal cardiac disease. Study design: We performed a retrospective chart review of patients at Yale-New Haven Hospital from 2012 to 2020 with diagnoses of Noonan syndrome and pregnancy. We analysed medical records for pregnancy details and cardiac health, including echocardiograms to quantify maternal cardiac dysfunction through measurements of pulmonary valve peak gradient, structural heart defects and interventricular septal thickness. Results: We identified five women with Noonan syndrome (10 pregnancies). Three of five patients had pulmonary valve stenosis at the time of pregnancy, two of which had undergone cardiac procedures. 50% of pregnancies (5/10) resulted in pre-term birth. 80% (8/10) of all deliveries were converted to caesarean section after a trial of labour. One pregnancy resulted in intra-uterine fetal demise while nine pregnancies resulted in the birth of a living infant. 60% (6/10) of livebirths required care in the neonatal intensive care unit. One infant passed away at 5 weeks of age. Conclusions: The majority of mothers had pre-existing, though mild, heart disease. We found high rates of prematurity, conversion to caesarean section, and elevated level of care. No maternal complications resulted in long-term morbidity. Our study suggests that women with Noonan syndrome and low-risk cardiac lesions can become pregnant and deliver a healthy infant with counselling and risk evaluation.

Presence of Increased Mast Cells in Infants and Children with Volume and Variety Limited Intake

Background: Reports indicate patients with feeding difficulties demonstrate signs of inflammation on biopsies, notably eosinophilia, but it is unknown whether mast cell density contributes to variety or volume limitation symptoms. The aim of our study was to evaluate eosinophil and mast cell density of EGD biopsies in pediatric patients with symptoms of decreased volume or variety of ingested foods. Methods: We conducted a single-center, retrospective chart review of EMRs for all new feeding clinic patients between 0 and 17 years of age. Patients were categorized by symptoms at the initial visit as well as eosinophil and mast cell densities in those with EGD biopsies. Ten patients were identified as controls. Results: We identified 30 patients each with volume and variety limitation. Antral mast cell density was increased in 32.1% of variety-limited patients, 37.5% of volume limited patients, and in no controls; Duodenal mast cell density was increased in 32.1% of variety-limited patients, 40.6% of volume-limited patients, and in no controls. Conclusions: In both variety- and volume-limited patients, antral and duodenal mast cell densities were increased. These associations warrant further investigation of the mechanism between mast cells and development of feeding difficulties, allowing more targeted pediatric therapies.

Prevalence of Findings in Routine Abdominal Ultrasound in Patients with Systemic Autoimmune Rheumatic Diseases and Their Impact on Therapeutic Decision Making

Patients with systemic autoimmune rheumatic diseases (SARD) often receive abdominal ultrasound examinations to screen for organ involvement; yet, the spectrum of findings and their clinical relevance are poorly understood. We conducted a retrospective chart review of inpatients from a rheumatological referral centre with an abdominal ultrasound between 1 January2006 and 31 December 2015, examining 1092 SARD patients with a total of 1695 inpatient stays. The mean age was 55.1 years (range: 17–90 years, SD: 15.8), and the mean disease duration was 6.4 years (range: 0.0–52.8 years, SD: 9.1). A total of 87.5% of the patients were female. The most frequent ultrasound findings were hepatic steatosis (in 26.8% of all patients), splenomegaly (15.2% of all patients), pancreatic lipomatosis (14.3% of all patients) and aortic sclerosis (13.9% of all patients). Based on glucocorticoid and disease-modifying antirheumatic drug use, we identified cases where immuno-modulatory medication was escalated; there was an association between therapy escalation and the findings of hepatomegaly and pleural effusion (as tested via Fisher’s exact test). In patients with several examinations during the defined time span (n = 318), we found ultrasound findings to change, especially findings of hepatomegaly, pleural effusion and splenomegaly. When justifying decisions regarding the further treatment of a patient in the discharge letter, abdominal ultrasound results were rarely discussed. Abdominal ultrasound rarely yielded disease-specific or treatment-changing results.

Oral Care in Acute Stroke

Purpose: Stroke impacts independent activities, particularly personal care such as oral hygiene. Existing guidelines lack details about how to provide effective oral care. This study explores the frequency of oral care based on staff adherence to oral care policies. Method: As part of a quality improvement initiative, we conducted a retrospective chart review of 30 consecutive stroke admissions to an acute care hospital. Patients with primary intracerebral hemorrhage or ischemic stroke were eligible. Sources of information included a decision support database and an electronic chart review. Data collection included length of hospitalization, stroke type, presence of infections, oral mechanism exam, dysphagia evaluations, and daily personal care provision by nursing staff (e.g., oral care and bathing). Results: Twenty-seven patients met the inclusion criteria. They had a mean age of 74 years, and 52% were men. Most had supratentorial stroke (86%) with comparable frequencies of right (48%) and left (52%) hemisphere lesions. In over half of the cases, provision of oral care was not documented at any point during the patients' hospitalization ( Mdn = 128 hr). Pericare and bathing were about twice and 4 times more frequent than oral care, respectively. Conclusions: Oral care after stroke is challenging. Existing oral care recommendations from stroke guidelines lack sufficient detail and warrant reconsideration for optimal and routine implementation particularly in acute settings. Education around oral care and associated protocols are necessary to advance oral care practices and improve stroke recovery.

Hemorrhagic Transformation Following Childhood Cardioembolic Stroke Is Not Increased in Anticoagulated Patients

Objective: To characterize the risk of hemorrhagic transformation following cardioembolic stroke in childhood, and whether anticoagulation impacts that risk. Methods: Ninety-five children (1 month-18 years) with cardioembolic arterial ischemic stroke between January 1, 2009, and December 31, 2019, at 2 institutions were identified for retrospective chart review. Neuroimaging was reviewed to assess for hemorrhagic transformation. Results: There were 11 cases of hemorrhagic transformation; 8 occurred within 2 days of stroke diagnosis. Risk of hemorrhagic transformation did not differ in patients with and without anticoagulation use (15% vs 9%, estimated risk difference 5%; CI –9%, 19%). Stroke size did not predict hemorrhagic transformation (OR 1.004, 95% CI 0.997, 1.010). Risk of hemorrhagic transformation was higher in strokes that occurred in the inpatient compared with the outpatient setting (16% vs 6%). Conclusion: Hemorrhagic transformation occurred in 11% of pediatric cardioembolic ischemic stroke, usually within 2 days of stroke diagnosis, and was not associated with anticoagulation or stroke size.

The effects of antithrombotic therapy in ab interno trabeculotomy with a spatula-shaped microhook

To evaluate the effects of the discontinuation of antithrombotic drugs on intraocular pressure (IOP) reduction and complications from ab interno trabeculotomy for patients with glaucoma. We performed a retrospective chart review on the data of patients treated with antithrombotic agents who have undergone ab interno trabeculotomy through Tanito microhook combined with cataract surgery at the Asahi General Hospital and the Tokyo University Hospital, with 6 months of follow-up. The patients were classified into two groups depending on whether they discontinued (AT-) or continued (AT+) antithrombotic therapy during the perioperative phase. The demographics, pre- and postoperative IOP, medication score, best-corrected visual acuity (BCVA), and postoperative complications were analyzed preoperatively and postoperatively at 1 week and 1–6 months. The series included 44 eyes from 44 Japanese patients. The AT- and AT+ groups included 21 eyes from 21 patients and 23 eyes from 23 patients, respectively. The decrease in IOP from the baseline at 1 week postoperative was significantly different between the two groups (p = 0.009), but there were no significant differences observed in the other visits. Hyphema and IOP spikes exceeding 30 mmHg occurred in 10% and 10% of AT- participants, and in 43% and 26% of AT+ participants, respectively. Hyphema and spikes with hyphema occurred more frequently in the AT+ than in the AT- group (p = 0.02 and p = 0.05). The number of patients who had spikes was not significantly different (p = 0.27). In trabeculotomy using the Tanito microhook®, discontinuing antithrombotic therapy had better IOP-lowering effects and less postoperative complications.

Factors Affecting Compliance With Myringotomy Tube Follow-up Care

Objective: Myringotomy and tube insertion is a commonly practiced procedure within pediatric otolaryngology. Though relatively safe, follow-up appointments are critical in preventing further complications and monitoring for improvement. This study sought to evaluate the factors associated with compliance of post-myringotomy follow-up visits in an urban safety-net tertiary care setting. Methods: This study is a retrospective chart review conducted in outpatient otolaryngology clinic at an urban, safety-net, tertiary-care, academic medical center. All patients from ages 0 to 18 who received myringotomy and tube placement between February 3, 2012, to May 30, 2018 at the aforementioned clinic were included. Results: A total of 806 patients had myringotomy tubes placed during this period; 190 patients were excluded due to no visits being scheduled within 1 and 6 month visit windows post-operatively, leaving 616 patients included for analysis. Of 616 patients, 574 patients were seen for the 1-month visit, (42 patients did not have follow-up visits within the 1-month window), and 356 patients were examined for the 6-month visit (260 patients did not schedule follow-up visits within the 6-month window). For the 1-month follow-up visits post-procedure, only race/ethnicity type “Other” was associated with lower no-show rates (OR = 0.330, 95% CI: 0.093-0.968). With the 6-month follow-up visits, having private insurance (OR = 0.446, 95% CI: 0.229-0.867) and not having a 1-month visit scheduled (OR = 0.404, 95% CI: 0.174-0.937) predicted lower no-show rates. Conclusion: No meaningful factors studied were significantly associated with compliance of short-term, 1-month visits post-myringotomy. Compliance of longer-term, 6-month post-operative visits was associated with insurance type and previous visit status.

Comparison Accuracy in mSIRS, NEWS and qSOFA Score to Triage Sepsis Patients in The Emergency Department at a Hospital in Thailand

Objective: We aimed to apply the modified systemic inflammatory response syndrome (mSIRS), the quick sequential organ failure assessment score (qSOFA), and National Early Warning Score (NEWS) to triage suspected sepsis patients. Therefore, knowing the predictive performance of each scoring system, using given cut-points for triaging patients with suspected sepsis, could help predict the progression of sepsis.Material and Methods: This study is a single-center retrospective chart review. The study enrolled patients older than 18 years with suspected sepsis patient at the time they presented at the triage zone. The primary outcome was to determine which scoring system were the most accurate to triage sepsis patients. The secondary outcomes were predictions of mortality related to the scoring.Results: Considering the outcome to be represented by a SOFA score of ≥2, the area under the curve of the receiver operating characteristic curves for the entire range of mSIRS, qSOFA and NEWS were 0.494, 0.669 and 0.751, respectively. Using a cut point for qSOFA of ≥2 provided a low sensitivity of 36.2% and high specificity of 93.0%; whereas, using a cut point for NEWS of >4 provided a high sensitivity of 89.0% and low specificity of 33.0%.Conclusion: In summary, qSOFA is the most accurate scoring system for diagnosis sepsis which was consistent with previous study. However, qSOFA had the lowest sensitivity, so is not appropriate in a triage situation. Therefore, we decided to use NEWS as the triage tool because of its better sensitivity and acceptable specificity as we need to triage almost all possible cases.

Incidence of postoperative week 1 management changes after resident-performed phacoemulsification cataract surgery

Background The goal of this study was to investigate the incidence of departures from routine care at the postoperative week 1 (POW1) visit following uneventful resident-performed cataract surgery in asymptomatic patients who had a normal postoperative day 1 (POD1) examination. Methods A retrospective chart review of phacoemulsification surgeries performed by the senior resident class at Montefiore Medical Center between June 20, 2018 and April 1, 2019 was performed. The most recent preoperative visit note, operative report, POD1 visit note, and POW1 visit note were evaluated and variables were recorded. Exclusion criteria consisted of any complications that would have necessitated close follow-up and a POW1 visit, whether discovered preoperatively, intraoperatively, at the POD1 visit, or leading up to the POW1 visit. The primary outcome measure was the incidence of unanticipated management changes at the POW1 visit following resident-performed cataract surgery. Results The charts of 292 surgical cases of 234 patients that underwent phacoemulsification with intraocular lens implantation were reviewed. 226 cases (77%) had an uncomplicated pseudophakic fellow-eye history, with a routine surgery, and POD1 examination. 19 of these patients had symptomatic presentations at the POW1 timepoint, and an additional 30 had no POW1 visit at all. In total, 177 cases were included in the study, and only 4 of these cases (2.3%) had an unexpected management change at the POW1 visit. Conclusions Asymptomatic patients who underwent uncomplicated cataract surgeries performed by resident surgeons followed by a routine POD1 visit had a low incidence of unexpected management changes at the POW1 visit. These results suggest that regularly scheduled POW1 visits could potentially be omitted for patients deemed to be at low risk for complications, and instead performed on an as-needed basis.