Category: Nevin Manimala

Am J Med Genet A. 2021 May 10. doi: 10.1002/ajmg.a.62259. Online ahead of print.

ABSTRACT

Turner syndrome (TS) is a chromosomal condition which is associated with an increased prevalence of cardiac morbidity and mortality. In this cross-sectional study, Minnesota-based electrocardiographic (ECG) abnormalities, aortic dimensions, routine- and myocardial strain echocardiographic parameters, and karyotype-cardiac phenotype associations were assessed in girls with TS. In total, 101 girls with TS (0-18 years) were included. The prevalence of major ECG abnormalities was 2% (T-wave abnormalities) and 39% had minor ECG abnormalities. Dilatation of the ascending aorta (z-score > 2) was present in 16%, but the prevalence was much lower when using TS-specific z-scores. No left ventricular hypertrophy was detected and the age-matched global longitudinal strain was reduced in only 6% of the patients. Cardiac abnormalities seemed more common in patients with a non-mosaic 45,X karyotype compared with other karyotypes, although no statistically significant association was found. Lowering the frequency of echocardiography and ECG screening might be considered in girls with TS without cardiovascular malformations and/or risk factors for aortic dissection. Nevertheless, a large prospective study is needed to confirm our results. The appropriate z-score for the assessment of aortic dilatation remains an important knowledge gap. The karyotype was not significantly associated with the presence of cardiac abnormalities, therefore cardiac screening should not depend on karyotype alone.

PMID:33969942 | DOI:10.1002/ajmg.a.62259

J Paediatr Child Health. 2021 May 10. doi: 10.1111/jpc.15548. Online ahead of print.

ABSTRACT

AIM: This study aimed to investigate the variability by ethnicity, socio-economic status and location in coverage and testability of the universal B4 School Check vision screening in children aged 4-5 years in New Zealand.

METHODS: Aggregated data from 1 July 2011 to 30 June 2015 were sourced from the Statistics New Zealand Integrated Data Infrastructure. Sourced data were attendance at vision screening and record of visual acuity measurement stratified by ethnicity, socio-economic status and region. Children who attended screening were compared with the eligible population (n = 252 279) to calculate coverage. Testability was determined by comparing the children with a recorded visual acuity measurement in each eye with those who attended screening.

RESULTS: Overall vision screening coverage was 89.5% and testability was 97.8%. Ethnic differences were evident for coverage (85.7% in Pacific children, 92.5% in European children) and testability (96.4% in Māori children, 98.4% in European children). Socio-economic differences were also observed for coverage (86.4% in most deprived areas, 92.4% in least deprived), testability (most deprived 96.3%, least deprived 98.7%) and by region (coverage range of 80.4-96.4% and testability range of 93.2-99.3%).

CONCLUSIONS: Significant disparities exist in vision screening coverage and testability for New Zealand pre-school children. Equity-focused initiatives are required to improve outcomes for children from Māori and Pacific families, and those from households in lower socio-economic areas. Understanding region-specific challenges and successes could support more equitable access to vision screening between regions. Further research is required to determine sources of inequities and to investigate interactions between ethnicity, socio-economic status and location.

PMID:33969914 | DOI:10.1111/jpc.15548

Vet Surg. 2021 May 10. doi: 10.1111/vsu.13641. Online ahead of print.

ABSTRACT

OBJECTIVE: Design 3D printed skull contoured brain biopsy guides (3D-SCGs) from computed tomography (CT) or T1-weighted magnetic resonance imaging (T1W MRI).

STUDY DESIGN: Feasibility study.

SAMPLE POPULATION: Five beagle dog cadavers and two client-owned dogs with brain tumors.

METHODS: Helical CT and T1W MRI were performed on cadavers. Planned target point was the head of the caudate nucleus. Three-dimensional-SCGs were created from CT and MRI using commercially available open-source software. Using 3D-SCGs, biopsy needles were placed into the caudate nucleus in cadavers, and CT was performed to assess needle placement accuracy, followed by histopathology. Three-dimensional-SCGs were then created and used to perform in vivo brain tumor biopsies.

RESULTS: No statistical difference was found between the planned target point and needle placement. Median needle placement error for all planned target points was 2.7 mm (range: 0.86-4.5 mm). No difference in accuracy was detected between MRI and CT-designed 3D-SCGs. Median needle placement error for the CT was 2.8 mm (range: 0.86-4.5 mm), and 2.2 mm (range: 1.7-2.7 mm) for MRI. Biopsy needles were successfully placed into the target in the two dogs with brain tumors and biopsy was successfully acquired in one dog.

CONCLUSION: Three-dimensional-SCGs designed from CT or T1W MRI allowed needle placement within 4.5 mm of the intended target in all procedures, resulting in successful biopsy in one of two live dogs.

CLINICAL SIGNIFICANCE: This feasibility study justifies further evaluation of 3D-SCGs as alternatives in facilities that do not have access to stereotactic brain biopsy.

PMID:33969898 | DOI:10.1111/vsu.13641

Transfusion. 2021 May 10. doi: 10.1111/trf.16439. Online ahead of print.

ABSTRACT

BACKGROUND: Transfusions are a common intervention within pediatrics and require unique considerations to optimize patient care. Poor knowledge of evidence-based transfusion practice can lead to misuse of transfusion therapy and harm. While there have been assessments of transfusion medicine knowledge of physicians caring for adult patients, there is little data regarding pediatricians.

STUDY DESIGN AND METHODS: Using a published transfusion medicine knowledge exam for internal medicine physicians as a backbone, pediatric transfusion medicine experts, using an iterative process, developed a pediatric-specific examination. Pilot testing and Rasch analysis, a method used in high-stakes testing, was used to validate the exam. The exam and a previously validated survey on transfusion medicine training, attitudes, and perceived ability were administered to pediatric residents. Analysis consisted of descriptive statistics as well as comparisons of exam scores based on survey responses.

RESULTS: 330 pediatric residents from 19 sites in 6 countries participated in the study. The vast majority (91%) of residents had obtained blood product consent. The mean exam score was 37.1% (range 9.5-71.4%) with no statistical differences based on amount or perceived quality of transfusion medicine education or perceived ability.

DISCUSSION: A rigorously validated exam has now been developed that can be used to assess pediatric transfusion medicine knowledge. A large international group of pediatric residents performed poorly on the exam demonstrating a pressing need for improved transfusion medicine education to ensure safe and appropriate administration of blood components to infants and children.

PMID:33969906 | DOI:10.1111/trf.16439

Sex Reprod Health Matters. 2021 Dec;29(1):1915940. doi: 10.1080/26410397.2021.1915940.

ABSTRACT

Reports of school and work absences due to unmet menstrual needs have prompted increased attention to menstruation in policy and practice. However, there appear to be few quantitative studies reported in published literature capturing the prevalence of this hypothesised absenteeism. This study undertook secondary analysis of nationally representative Performance Monitoring and Accountability 2020 (PMA2020) data from Burkina Faso and Nigeria, and city-representative data from Niamey, Niger to determine the extent of women’s and girls’ self-reported absence from school and work due to menstruation. Among women and adolescent girls aged 15-49 years who had worked outside the household in the past month in Burkina Faso (n = 998), Niger (n = 212) and Nigeria (n = 3638), 19%, 11% and 17%, respectively, reported missing work due to menstruation. Among those aged 15-24 years who attended school in the past year in Burkina Faso (n = 461), Niger (n = 213) and Nigeria (n = 1574), 17%, 15% and 23% reported missing school in the past year due to menstruation. Findings support the assertion that menstruation is a source of absenteeism in West Africa and indicate that greater attention from research, practice, and policy is needed. In presenting this data we also reflect critically on the performance of questions regarding menstrual-related absenteeism in national monitoring surveys. Future monitoring efforts should consider the interpretability of similar survey data when many respondents did not attend any school or work and were ineligible to answer questions regarding absenteeism. Further, without additional research identifying the reasons for absenteeism, findings from similar survey questions may be difficult to interpret with relevance for policy decision making.

PMID:33969811 | DOI:10.1080/26410397.2021.1915940

J Clin Sleep Med. 2021 May 10. doi: 10.5664/jcsm.9382. Online ahead of print.

ABSTRACT

STUDY OBJECTIVES: Short sleep duration (SD) is associated with cardiovascular disease (CVD). We investigated the relationship between objective SD and subclinical atherosclerosis employing hybrid PET/MRI with ¹⁸F-FDG tracer in the MESA cohort.

METHODS: We utilized data from MESA-SLEEP and MESA-PET ancillary studies. SD and sleep fragmentation index (SFI) were assessed using 7-day actigraphy. The primary and secondary outcomes were carotid inflammation, defined using target-to-background ratios (TBR), and measures of carotid wall remodeling (carotid wall thickness [CWT]), summarized by SD category. Multivariate linear regression was performed to assess the association between SD and SFI with the primary/secondary outcomes, adjusting for several covariates including apnea-hypopnea index (AHI), and CVD risk.

RESULTS: Our analytical sample (n=58) was 62% female (mean age 68±8.4 years). Average SD was 5.1±0.9 hours in the short SD group (≤6 hours/night, 31%), and 7.1±0.8 hours in the normal SD group (69%). Prevalence of pathologic vascular inflammation (TBRmax>1.6) was higher in the short SD group (89% vs. 53%, p=0.009). Those with short SD had a higher TBRmax (1.77 vs 1.71), though this was not statistically significant (p=0.39). CWT was positively correlated with SFI even after adjusting for covariates (Beta [SE]=0.073±[0.032], p=0.025).

CONCLUSIONS: Prevalence of pathologic vascular inflammation was higher among those who slept ≤6 hours, and vascular inflammation was higher among those with a SD of ≤6 hours. Interestingly, SFI was positively correlated with CWT even after adjustment for covariates. Our results are hypothesis-generating but suggest that both habitual SD and SFI should be investigated in future studies as potential risk factors for subclinical atherosclerosis.

PMID:33969819 | DOI:10.5664/jcsm.9382

Laryngoscope. 2021 May 10. doi: 10.1002/lary.29600. Online ahead of print.

ABSTRACT

OBJECTIVES/HYPOTHESIS: To evaluate the clinical utility of postoperative contrast x-ray pharyngograms (XRP) for detecting pharyngoesophageal leaks following hypopharyngeal dysphagia surgery.

STUDY DESIGN: Retrospective cohort study.

METHODS: Medical records were reviewed of patients undergoing endoscopic (E-) or open (O-) Zenker’s diverticulectomy (-ZD) with cricopharyngeal myotomy (-CPM) and CPM alone from 2008 to 2020 at one academic institution. Exclusion criteria were patients who were fed enterally or underwent repair of epiphrenic diverticula or O-CPM during laryngectomy. XRP clinical indication, impact on clinical care, and factors associated with use patterns were examined using descriptive statistics and logistic regression (LR).

RESULTS: Of 152 subjects, 52% underwent O-ZD, 30% O-CPM, 15% E-ZD, and 3% E-CPM. An XRP was ordered for 65% of subjects, mostly routinely (94%). Among the four clinically apparent leaks observed in this cohort, early postoperative XRP confirmed one. It did not identify any clinically silent leaks. In univariate LR, undergoing XRP was associated with increasing day of diet advancement (odds ratio [OR] 4.7, 95% confidence interval [CI] 2.5-10.5) and hospital stay duration (OR 3.2, 95% CI 2.1-5.2), as well as surgeon specialty of otolaryngology compared to general surgery (OR 12.8, 95% CI 4.8-40.8) and procedure sub-type (O-CPM: OR 0.03, 95% CI 0.002-0.16). In multivariate LR, the following variables were significantly associated with XRP use: hospital stay (OR 1.7; 95% CI 1.1-3.0), otolaryngology (OR 105; 95% CI 15.4-2193), O-CPM (OR 0.03; 95% CI 0.002-0.16), and E-CPM (OR 0.04, 95% CI 0.002-0.60).

CONCLUSIONS: Prospective, multi-institutional studies are needed to confirm the low clinical utility we observed of early, postoperative XRP following hypopharyngeal surgery for dysphagia.

LEVEL OF EVIDENCE: 3 Laryngoscope, 2021.

PMID:33969887 | DOI:10.1002/lary.29600

Int J Oral Maxillofac Surg. 2021 May 6:S0901-5027(21)00161-2. doi: 10.1016/j.ijom.2021.04.008. Online ahead of print.

ABSTRACT

The enhanced recovery after surgery (ERAS) protocol was designed to improve patient outcomes and decrease complications, opioid use, and postoperative nausea and vomiting (PONV). The aim of this retrospective cohort study was to examine the effectiveness of ERAS protocols implemented in orthognathic surgeries from 2017 to 2018 at the University of Alabama at Birmingham Hospital by measuring opioid use and PONV. Two groups were identified through chart review, a non-ERAS group (traditional) of patients who had surgery without a protocol and an ERAS group of patients who had surgery with the ERAS protocol. The anesthesia and surgical teams followed a standardized protocol for perioperative management. All procedures were performed by a single surgeon and included single- and double-jaw surgeries and adjunctive procedures. The patient charts were analyzed for postoperative opioid consumption (measured in morphine milligram equivalents, MME) and PONV. IBM SPSS Statistics version 26 was used to conduct the statistical analyses. The ERAS group received less opioids during the postoperative period than the control group (31.2 MME vs 54.6 MME, P= 0.002). The ERAS group also had a lower incidence of PONV, with 1.2 episodes of PONV compared to 2.4 episodes in the non-ERAS group (P= 0.008). This study demonstrates that the ERAS protocol is effective in decreasing postoperative opioid consumption and PONV.

PMID:33966966 | DOI:10.1016/j.ijom.2021.04.008

Wilderness Environ Med. 2021 May 6:S1080-6032(21)00038-7. doi: 10.1016/j.wem.2021.02.002. Online ahead of print.

ABSTRACT

INTRODUCTION: Bouldering has become a sport of growing interest, but little prospective evidence exists about injury proportions and patterns. The purpose of this study was to prospectively evaluate the cause of injuries sustained during indoor bouldering, proportion of affected body location, and injury severity.

METHODS: Proportions and patterns of injury among German-speaking indoor boulderers were evaluated prospectively in an explorative cohort study. Participants completed a baseline questionnaire assessing anthropometric data and sport-specific potential preventive and risk factors, followed by monthly injury questionnaires including injury location and injury severity over a period of 12 mo.

RESULTS: Out of 507 boulderers, 222 (44%) sustained 305 injuries. Of those, 78% (n=238) were classified as Union Internationale de Associations d’Alpinisme (UIAA) 1, 19% (n=57) as UIAA 2, and 3% (n=10) as UIAA 3. Injuries of the upper extremities accounted for 63% (n=191) of all injuries. Injuries of the lower extremities accounted for 23% (n=71) but were more often classified as UIAA≥2 (P=0.0071; odds ratio [OR] 2.23; 95% CI 1.23-4.04) and were more often caused by falling (P=0.0005; OR 2.92; 95% CI 1.57-5.42) and jumping off the wall (P<0.0001; OR 4.39; 95% CI 2.25-8.56) than injuries of other body locations. There was no statistically significant protective effect of the evaluated potential preventive measures. Participants who used heavily downturned climbing shoes had a higher risk of sustaining a UIAA ≥2 injury (P=0.0034; OR 2.58; 95% CI 1.34-4.95).

CONCLUSIONS: Injuries in indoor bouldering are common. Lower extremity injuries are associated with higher injury severity. Preventive measures need to be established to reduce bouldering injuries, especially during falls and landings.

PMID:33966976 | DOI:10.1016/j.wem.2021.02.002

Eur J Surg Oncol. 2021 May 4:S0748-7983(21)00475-3. doi: 10.1016/j.ejso.2021.04.043. Online ahead of print.

ABSTRACT

BACKGROUND: Primary leiomyosarcoma (LMS) of the gastrointestinal (GI) tract is rare. Limited literature exists regarding the clinical characteristics and outcome for patients with localised and metastatic disease.

METHODS: A retrospective chart review was performed for patients greater than 18 years of age diagnosed with GI LMS at The Royal Marsden Hospital between 1 January 2000-1 May 2020. Descriptive statistics were performed. Patients were censored at data cut-off date of 27 June 2020.

RESULTS: Forty-six patients with a median age at diagnosis of 54 years (range 25-85) were identified. Fifteen percent (n = 7) of patients previously received abdominal radiation for an unrelated cancer. All patients with localised disease (n = 36) had resection with oncological margins. For patients who underwent potentially curative surgery, median recurrence-free survival (mRFS) was 13 months (0.4-183 months), and half of these patients (n = 18) developed recurrent disease post resection (distant n = 16, local n = 2). Median overall survival (mOS) was 27 months for patients with distant recurrence. Twenty-one percent (n = 10) of patients presented with synchronous metastatic disease and their mOS was 19 months. Median progression-free survival (mPFS) for patients treated with conventional chemotherapy ranged from 2.0 to 8.0 months.

CONCLUSION: The risk of recurrence is significant, and recurrence-free survival was short even with complete oncologic resection. The relationship of prior abdominal radiotherapy to the development of GI LMS warrants further investigation. Outcomes with systemic therapy for metastatic disease were poor and there is a need for the development of more effective systemic therapies.

PMID:33966946 | DOI:10.1016/j.ejso.2021.04.043