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Genetic Counseling Access and Service Delivery in New York State Is Variable for Parents of Infants With Complex CFTR Genotypes Conferring Uncertain Phenotypes
No full textBACKGROUND: New York State (NYS) utilizes a three-tiered cystic fibrosis newborn screening (CFNBS) algorithm that includes cystic fibrosis transmembrane conductance regulator (CFTR) gene sequencing. Infants with \u3e1 CFTR variant of potential clinical relevance, including variants of uncertain significance or varying clinical consequence are referred for diagnostic evaluation at NYS cystic fibrosis (CF) Specialty Care Centers (SCCs). AIMS: As part of ongoing quality improvement efforts, demographic, screening, diagnostic, and clinical data were evaluated for 289 CFNBS-positive infants identified in NYS between December 2017 and November 2020 who did not meet diagnostic criteria for CF and were classified as either: CFTR-related metabolic syndrome/CF screen positive, inconclusive diagnosis (CRMS/CFSPID) or CF carriers. RESULTS: Overall, 194/289 (67.1%) had CFTR phasing to confirm whether the infant\u27s CFTR variants were in cis or in trans. Eighteen complex alleles were identified in cis; known haplotypes (p.R117H+5T, p.F508del+p.L467F, and p.R74W+p.D1270N) were the most common identified. Thirty-two infants (16.5%) with all variants in cis were reclassified as CF carriers rather than CRMS/CFSPID. Among 263 infants evaluated at an NYS SCC, 70.3% were reported as having received genetic counseling about their results by any provider, with 96/263 (36.5%) counseled by a certified genetic counselor. CONCLUSION: Given the particularly complex genetic interpretation of results generated by CFNBS algorithms including sequencing analysis, additional efforts are needed to ensure families of infants with a positive CFNBS result have CFTR phasing when needed to distinguish carriers from infants with CRMS/CFSPID, and access to genetic counseling to address implications of CFNBS results
Long-Term Efficacy of Liposomal Nanocarriers of Preassembled Glycocalyx in Restoring Cerebral Endothelial Glycocalyx in Sepsis
No full textThe endothelial glycocalyx (EG) undergoes early degradation in sepsis. Our recent work introduced a novel therapeutic approach involving liposomal nanocarriers of preassembled glycocalyx (LNPG) to restore EG in lipopolysaccharide (LPS)-induced sepsis model of mice. While short-term effects were promising, this study focuses on the long-term impact of LNPG on mouse cerebral microcirculation. Utilizing cranial window, we assessed the stability of vascular density (VD) and perfused boundary region (PBR), an index of EG thickness, over a five-day period in normal control mice. In septic groups (LPS, LPS + 1-dose LNPG, and LPS + 2-dose LNPG), the exposure of mice to LPS significantly reduced VD and increased PBR within 3 h. Without LNPG treatment, PBR returned to the normal control level by endogenous processes at 48 h, associated with the recovery of VD to the baseline level at 72 h. However, mice receiving LNPG treatment significantly reduced the increment of PBR at 3 h. The therapeutic effect of 1-dose LNPG persisted for 6 h while the 2-dose LNPG treatment further reduced PBR and significantly increased VD at 12 h compared to LPS group. This study provides valuable insights into the potential therapeutic benefits of LNPG in mitigating EG degradation in sepsis
Cardiac Myosin Activator Omecamtiv Mecarbil: Novel Treatment for Systolic Heart Failure
No full textSystolic Heart failure is a complex clinical syndrome characterized by a decrease in cardiac contractility and a reduction in organ perfusion. Current pharmacologic inotropes attempt to improve contractility via indirect mechanisms but are limited in terms of safety and effectiveness. Omecamtiv mecarbil is a novel agent in a new class of drugs known as cardiac myosin activators; their unique mechanism of action involves directly activating the enzymatic pathway in the cardiac myocyte as a way to improve ventricular contraction. Preclinical and clinical trials have found that omecamtiv mecarbil improves cardiac contractility without increasing the risk of any of the harmful effects that are associated with the currently available inotropic agents. Omecamtiv mecarbil is a worthwhile advance and patients with systolic heart failure would benefit from pharmacological use of this drug
The Impact of Ipsilateral Implantable Cardioverter Defibrillator in Axillary Intra-Aortic Balloon Pump Support as Bridge to Heart Transplantation
No full textBACKGROUND: The axillary artery (AX) access for intra-aortic balloon pump (IABP) as a bridge to heart transplant (HT) allows mobility while awaiting a suitable donor. As end-stage heart failure patients often have an implantable cardioverter defibrillator (ICD) on the left side, the left AX approach may be avoided due to the perception of difficult access and proximity of two devices. We aimed to evaluate the outcomes of patients bridged to HT with a left-sided AX IABP with or without ipsilateral ICDs. METHODS: We retrospectively reviewed HT candidates at our institution supported by left-sided axillary IABP from November 2019 to February 2024, dividing them into two groups based on the presence (Group ICD, n = 48) or absence (Group No-ICD, N = 19) of an ipsilateral left-sided ICD. The exposure time was defined as the time from skin incision to the beginning of anastomoses of a Dacron graft. RESULTS: Technical success was achieved in 100% of the cohort, with median exposure times for AX access similar between groups (ICD, 12 [7.8, 18.2] vs. No ICD, 11 [7, 19] min; p = 0.75). The rate of procedural adverse events, such as significant access site bleeding and ipsilateral limb ischemia, did not significantly differ between both groups. Device malfunction rates were comparable (ICD, 29.2% vs. No ICD, 15.8%; p = 0.35). Posttransplant, in-hospital mortality, severe primary graft dysfunction, and stroke rates were comparable in both groups. CONCLUSION: The presence of an ipsilateral left-sided ICD does not adversely impact the procedural efficacy, complication rates, or posttransplant outcomes of left-sided AX IABP insertion in HT candidates
In Touch Week of September 3, 2024
Get PDFNYMC to Celebrate Visionary Public Health Leaders at Annual Founder’s Dinner Dr. Vikas Grover Named Chair of the Department of Rehabilitation Sciences College Announces New Leadership Appointments GSBMS Greets Incoming Students for the New Academic Year NYMC Club Fair 2024 Highlights Student Involvement and Inclusion COVID-19 Symptoms During the Omicron Surge Differ Between Boosted and Vaccinated Non-Boosted Individuals NYMC Enhances Campus Parking with New Parking Lot Student Spotlight: SOM Student Advances Reproductive Health Science on the Global Stagehttps://touroscholar.touro.edu/in_touch/1334/thumbnail.jp
InTouch Week of February 26, 2024
Get PDFCSSC Receives Grant from Children’s Dream Foundation Ulrich Steidl, M.D., Ph.D., to Address 35th Annual Graduate Student Research Forum Promoting Wellness During National Heart Month Lactation Rooms Available on Campus Tell Us What You Think LCME Element of the Week Student Spotlight: SOM Student Nadia Briones Sings a New Tune in Medicinehttps://touroscholar.touro.edu/in_touch/1315/thumbnail.jp
Single Long-Incision Minimally Invasive Surgery
No full textSTUDY DESIGN: Retrospective cohort study.
OBJECTIVE: The objective of this study is to determine differences in outcomes in patients with adolescent idiopathic scoliosis undergoing spinal deformity correction surgery using a posterior spinal fusion (PSF) approach versus single and triple-incision minimally invasive surgery (MIS).
SUMMARY OF BACKGROUND DATA: MIS increased in popularity as surgeons\u27 focus moved towards soft tissue preservation, but it carries technical demands and increased surgical time compared with PSF.
PATIENTS AND METHODS: Surgeries performed from 2016 to 2020 were included. Cohorts were formed based on surgical approach: PSF versus single long-incision MIS (SLIM) versus traditional MIS [3-incision MIS (3MIS)]. There were a total of 7 subanalyses. Demographic, radiographic, and perioperative data were collected for the 3 groups. Kruskal-Wallis and χ 2 tests were used for continuous and categorical variables, respectively.
RESULTS: Five hundred thirty-two patients met our inclusion criteria, 294 PSF, 179 3MIS, and 59 SLIM.Estimated blood loss (mL) ( P \u3c 0.00001) and length of stay (LOS) ( P \u3c 0.00001) was significantly higher in PSF than in SLIM and 3MIS. Surgical time was significantly higher in 3MIS than in PSF and SLIM ( P = 0.0012).Patients who underwent PSF had significantly lower postoperative T5 to T12 kyphosis ( P \u3c 0.00001) and percentage kyphosis change ( P \u3c 0.00001). Morphine equivalence was significantly higher in the PSF group during total hospital stay ( P = 0.0042).Patients who underwent SLIM and 3MIS were more likely to return to noncontact ( P = 0.0096) and contact sports ( P = 0.0095) within 6 months and reported lower pain scores ( P \u3c 0.001) at 6 months postoperation.
CONCLUSION: SLIM has a similar operative time to PSF and is technically similar to PSF while maintaining the surgical and postoperative outcome advantages of 3MIS
Outcomes and Survival Analysis of Adult Cervical Deformity Patients With 10-Year Follow-Up
No full textBACKGROUND: Previous studies have demonstrated that adult cervical deformity patients may be at increased risk of death in conjunction with increased frailty or a weakened physiologic state. However, such studies have often been limited by follow-up duration, and longer-term studies are needed to better assess temporal changes in ACD patients and associated mortality risk.
PURPOSE: To assess if patients with decreased comorbidities and physiologic burden will be at lessened risk of death for a greater length of time after undergoing adult cervical deformity surgery.
STUDY DESIGN/SETTING: Retrospective review.
PATIENT SAMPLE: Two hundred ninety ACD patients.
OUTCOME MEASURES: Morbidity and mortality data.
METHODS: Operative ACD patients ≥18 years with pre-(BL) and 10-year (10Y) data were included. Patients were stratified as expired versus living, as well as temporally grouped by Expiration prior to 5Y or between 5Y and 10Y. Group differences were assessed via means comparison analysis. Backstep logistic regression identified mortality predictors. Kaplan-Meier analysis assessed survivorship of expired patients. Log rank analysis determined differences in survival distribution groups.
RESULTS: Sixty-six total patients were included (60.97±10.19 years, 48% female, 28.03±7.28 kg/m
CONCLUSIONS: Our study demonstrates that long-term survival after cervical deformity surgery may be predicted by baseline surgical factors. By optimizing BMI, frailty status, and minimizing fusion length when appropriate, surgeons may be able to further assist ACD patients in increasing their survivability postoperatively
Inflammatory Bowel Disease Evolution in the Past Two Decades: A Chronological Multinational Study
No full textBACKGROUND: The multifactorial nature of inflammatory bowel disease (IBD), which manifests differently in individuals creates a need for a better understanding of the behaviour and pattern of the disease due to environmental factors. The current study aimed to study the changes in IBD behaviour, presentation, and characteristics in patients over the past two decades with a goal of improving patients\u27 diagnosis, management and outcomes.
METHODS: During a 6-month period (1/02/2022-30/07/2022), the information of patients with IBD who attended IBD outpatient clinics of 11 referral centre\u27s in six countries was collected, and based on the first time of diagnosis with IBD, they were allocated as group A (those who were diagnosed more than 15 years ago), group B (those who were diagnosed with IBD between 5 and 15 years ago) and group C (IBD cases who diagnosed in recent 5 years). Then the most prevalent subtypes and characters of the disease are evaluated and compared to make clear if the presenting pattern and behaviour of the disease has changed in the last 2 decades.
FINDINGS: Overall 1430 patients with IBD including 1207 patients with ulcerative colitis (UC) (84.5%) and 205 patients with Crohn\u27s disease (CD; 14.3%) included. Mean age of participants at the first time of diagnosis with IBD was 30 years. The extra-intestinal involvement of IBD in groups A and B was more prevalent in comparison with group C. Most of those in groups A & B had academic education but in group C, the most prevalent educational status was high school or diploma (P = 0.012). In contrast to groups A and B, the relative prevalence of medium socioeconomic level in group C had decreased (65%). Relative prevalence of UC subtypes was similar among groups A and B (extensive colitis as most prevalent) but in group C, the most prevalent subtype is left side colitis (38.17%). The most prevalent subtype of CD in groups A and B was ileocolic involvement while in group C, upper GI involvement is significantly increased. The rate of food sensitivity among groups A and B was more than group C (P = 0.00001). The relative prevalence of patients with no flare has increased with a steady slope (P \u3c 0.00001). Relative prevalence of presenting symptoms among patients with UC in group C differs and nowadays the rate abdominal pain (70.7%) and bloating (43.9%) have increased and frequency of diarrhoea (67.4%) has decreased.
INTERPRETATION: In the recent 5 years, the pattern of UC presentation has changed. The rate of upper GI involvement in CD and relative prevalence of patients with no disease flare increased and the rate of extra intestinal involvement decreased.
FUNDING: None