Search

Childhood apraxia of speech (CAS) is a severe and rare form of speech sound disorder (SSD) with an estimated prevalence of 0.01-2%. CAS typically occurs in isolation (sporadic), but may segregate in families with broader speech and language deficits. We hypothesized that disruptive genetic changes may be involved in the etiology of CAS, and were resolvable by examination of whole genome sequence. We sequenced 27 families with a CAS child within the Cleveland Family Speech and Reading Study, examining 101 individuals in all. CAS subjects displayed errors on single word articulation (75%), multisyllabic real word repetition (93%), multisyllabic non-word repetition (82%), and oral motor function (82%); many also exhibited problems with fine and gross motor skills. We identified 17 genomic regions including 19 unique structural variants (SVs) present in children with CAS. Three variants were shared across families, but the rest were unique; some events were de novo. In four families, siblings with milder phenotypes co-inherited the same SVs, suggesting that some SVs display variable expressivity. In an independent sample, we replicated eight SVs using microarray technology and found that many of these SVs were present in children with milder forms of SSD. Bioinformatic examination of the deletions/duplications identified four SVs with substantial functional consequences (cytobands 2q24.3, 6p12.3-6p12.2, 11q23.2-11q23.3, and 16p11.2). Of these, the 16p11.2 deletion is the most well-established variant that causes a broad array of neurological features. These discoveries show that SVs are a heterogeneous, but prevalent cause of CAS, identifiable by standard genetic testing.

Background Extracorporeal membrane oxygenation (ECMO) has been used increasingly for cardiopulmonary rescue. Despite recent advances however, post-cardiotomy shock (PCS)-ECMO survival remains comparatively poor. We sought to evaluate outcomes and define factors that predict in-hospital mortality. Methods We used the Nationwide Inpatient Sample (NIS) to evaluate adult hospitalizations with a primary procedure code for coronary artery bypass grafting (CABG), and/or valve procedures performed between 2013 and 2018, which also required post cardiotomy ECMO support. Patient-related factors and hospital costs were evaluated to identify those associated with in-hospital mortality. Results There were 1,247,835 admissions for cardiac surgical procedures during the study period. Post-cardiotomy shock-ECMO support was provided in 4475 (0.3%) within the study cohort. A total of 2000 (44.7%) hospitalizations involved isolated valvular procedures, 1700 (38.0%) isolated CABG, and 775 (17.3%) involved a combination of both. Overall, in-hospital mortality was 42.1% ( n = 1880). Factors significantly associated with in-hospital mortality included patients with multiple comorbidities (> 7) and those undergoing combination of valve and CABG procedures. Only 26.6% of those who survived to discharge, were discharged home independently. Conclusion Survival to independent home discharge is rare following PCS-ECMO. Its high mortality is associated with multiple comorbidities and combination of CABG and valve surgery.

We report a first case with the use of extracorporeal carbon dioxide removal system as a bridge to re-do lung transplant in complete situs inversus patient. A 29-year-old female with Kartagener syndrome and complete situs inversus underwent a double lung transplant for end stage lung disease. Within one year after transplant the patient had primarily hypercapnic respiratory failure with radiographic signs of chronic lung allograft dysfunction. To optimize her nutritional status and muscle strength before re-do lung transplantation, we decided to bridge her with an extracorporeal carbon dioxide removal system due to anatomical difficulty. She was listed and underwent an uneventful re-do double lung transplant with cardiopulmonary support.

Background: In 2007, we launched our pediatric emergency department program for rapid recognition and escalated management of suspected septic shock. We encountered large variation in our 2-element bundle (timely antibiotic and intravenous fluid [IVF] administration) compliance. Following order set implementation in 2011, we achieved median 96% compliance to our 2-element bundle, however noted wide month-to-month variation over the ensuing 2 years. Methodology: In 2014, we began troubleshooting the problem using standard quality improvement methodologies including Pareto analysis. We identified intravenous (IV) access delay as a significant barrier (45%) to achieving 2-element bundle …

Nodal follicular helper T-cell-derived lymphoproliferations (specifically the less common peripheral T-cell lymphomas of follicular type) exhibit a spectrum of histologic features that may mimic reactive hyperplasia or Hodgkin lymphoma. Even though angioimmunoblastic T-cell lymphoma and peripheral T-cell lymphoma of follicular type share a common biologic origin from follicular helper T-cells and their morphology has been well characterized, flow cytometry of peripheral T-cell lymphomas of follicular type has not been widely discussed as a tool for identifying this reactive hyperplasia/Hodgkin lymphoma mimic. We identified 10 peripheral T-cell lymphomas of follicular type with available flow cytometry data from five different institutions, including two cases with peripheral blood evaluation. For comparison, we examined flow cytometry data for 8 classical Hodgkin lymphomas (including 1 lymphocyte-rich classical Hodgkin lymphoma), 15 nodular lymphocyte predominant Hodgkin lymphomas, 15 angioimmunoblastic T-cell lymphomas, and 26 reactive nodes. Lymph node histology and flow cytometry data were reviewed, specifically for the presence of a CD3(-/dim)CD4(+) aberrant T-cell population (described in angioimmunoblastic T-cell lymphomas), besides other T-cell aberrancies. Nine of 10 (90%) peripheral T-cell lymphomas of follicular type showed a CD3(-/dim)CD4(+) T-cell population constituting 29.3% (range 7.9-62%) of all lymphocytes. Five of 10 (50%) had nodular lymphocyte predominant Hodgkin lymphoma or lymphocyte-rich classical Hodgkin lymphoma-like morphology with scattered Hodgkin-like cells that expressed CD20, CD30, CD15, and MUM1. Three cases had a nodular growth pattern and three others exhibited a perifollicular growth pattern without Hodgkin-like cells. Epstein-Barr virus was positive in 1 of 10 cases (10%). PCR analysis showed clonal T-cell receptor gamma gene rearrangement in all 10 peripheral T-cell lymphomas of follicular type. By flow cytometry, 11 of 15 (73.3%) angioimmunoblastic T-cell lymphomas showed the CD3(-/dim)CD4(+) population (mean: 19.5%, range: 3-71.8%). Using a threshold of 3% for CD3(-/dim)CD4(+) T cells, all 15 nodular lymphocyte predominant Hodgkin lymphoma controls and 8 classical Hodgkin lymphomas were negative (Mann-Whitney P=0.01, F-PTCL vs Hodgkin lymphomas), as were 25 of 26 reactive lymph nodes. The high frequency of CD3(-/dim)CD4(+) aberrant T cells is similar in angioimmunoblastic T-cell lymphomas and peripheral T-cell lymphomas of follicular type, and is a useful feature in distinguishing peripheral T-cell lymphomas of follicular type from morphologic mimics such as reactive hyperplasia or Hodgkin lymphoma.

277 Background: MRI/US guided biopsy (fusion biopsy) is increasingly utilized over systemic 12-core transrectal ultrasound biopsy (12-core biopsy) for men with MRI-visible prostate lesions. Methods: Patients with MRI visible prostate lesions who underwent fusion and 12-core biopsy from 2016-2020 in the Intermountain Healthcare (IHC) system were consecutively analyzed. This was in the setting of a continuous quality assurance initiative among the reading radiologists. Primary outcome was PCa detection defined by Gleason grade group (GGG) 1 or higher. Clinically significant cancer (CSC) was defined as GGG 2 or higher. Patients were stratified by date biopsy was performed, 2016-2017 and 2018-2020, and lesions were stratified by PI-RADS v2 category. For men with multiple lesions, the highest PI-RADS v2 category lesion was used. Results: A total of 142 men with 254 MRI-detectable lesions underwent both fusion and 12-core biopsies in the IHC system from 2016 to 2020. CSC was detected in 21.6% (55/254) of fusion biopsies. Comparing PI-RAD v2 categories 1-3 to PI-RADS v2 categories 4-5, the PPV for detecting CSC was 9% (15/162) compared to 44% (40/92) respectively. Fusion and 12-core biopsies were concordant for any PCa in 79% of men (112/142) and CSC in 83% (118/142). Fusion biopsy detected any PCa in 22/84 (26%) and CSC in 15/103 (15%) of men in whom 12-core biopsy was negative. 12-core biopsy detected any PCa in 8/70 (11%) and CSC in 9/97 (9%) of men in whom fusion was negative. In total, 15 patients (11%) had a CSC that would have been missed if fusion biopsy was omitted while 9 (6%) had a CSC that would have been missed without 12-core biopsy. Conclusions: Omitting fusion or 12-core biopsy for PI-RADS v2 lesions would have resulted in a missed CSC in 11% or 6% of patients from 2016-20, respectively. The combination of MRI/US-guided fusion biopsy and systematic 12-core biopsy increased detection rate of CSC. These results are in the setting of a continuous, multi-disciplinary quality assurance program and results are not necessarily applicable to other healthcare systems. [Table: see text]

In the wide zones of coastal lowlands in Sarawak, there are typical well-developed peat swamp forests. This paper presents a phytosociological description of peat swamp forests with a community table. The study site, Naman, is about 10 km south of Sibu, Sarawak, East Malaysia. The forests were summarized as a Ilex hydroglauca-Cephalomappa paudicola community in accordance with the concepts and methods of the Zürich-Montpellier School.

[Figure][1] A 16-year-old boy presented with 2 weeks of fevers, night sweats, fatigue, and myalgia, in addition to an erythematous rash on the trunk and extremities after new findings of hepatosplenomegaly and inguinal lymphadenopathy. Monospot test was positive, confirming the diagnosis of

Background Neurologic complications (NCs) are the major adverse events after left ventricular assist device (LVAD) surgery. Pre-operative and post-operative factors associated with NCs in patients with LVADs were investigated. Methods We reviewed 307 consecutive patients undergoing LVAD surgery (167 HeartMate I and 140 HeartMate II devices) at Columbia University Medical Center between November 2000 and December 2010. Clinical characteristics and hemodynamic and laboratory indexes were analyzed. NC was defined according to the Interagency Registry for Mechanically Assisted Circulatory Support definition of neurologic dysfunction, including transient ischemic attack (TIA) and ischemic or hemorrhagic cerebrovascular accident (CVA). Results NCs developed in 43 patients (14.0%) at 91.8 ± 116.3 days post-operatively. The frequency of NC development was similar in HeartMate I and II patients. Patients with NC showed a higher frequency of pre-LVAD CVA history (27.9% vs 15.5%, p = 0.046), lower pre-operative sodium (129.0 ± 7.0 vs 132.1 ± 8.1 mg/dl, p = 0.018) and albumin concentrations (3.5 ± 0.7 vs 3.7 ± 0.6 mg/dl, p = 0.049), lower post-operative hematocrit (34.9% ± 5.1% vs 37.8% ± 6.1%, p = 0.0034), sodium (131.6 ± 7.7 vs 134.4 ± 6.4 mg/dl, p = 0.010) and albumin concentrations (3.7 ± 0.5 vs 3.9 ± 0.5 mg/dl, p = 0.0016), and higher frequency of post-operative infection (39.5% vs 19.3%, p = 0.003) than those without NC. Multiple regression analysis revealed that CVA history (odds ratio, 2.37, 95% confidence interval, 1.24–5.29; p = 0.011) and post-operative infection (odds ratio, 2.99, 95% confidence interval, 1.16–10.49; p = 0.011) were highly associated with NC development. The combination of CVA history, pre-operative and post-operative sodium and albumin, and post-operative hematocrit and infection could discriminate patients developing NCs with a probability of 76.6%. Conclusions Previous stroke, persistent malnutrition and inflammation, severity of heart failure, and post-LVAD infections are key factors associated with development of NCs after LVAD implantation.