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Increasing ability to diagnose fetal single gene disorders has changed the prenatal diagnostic paradigm. As fetal sequencing advances, the genomic information obtained can lead to improved prognostic counseling, and elucidation of recurrence risk and future prenatal diagnosis options. For some of these disorders, postnatal molecular therapy, including gene therapy, is available or being studied in clinical trials. Most of the initial research and clinical trials have involved children and adults, but there are potential benefits to treating conditions before birth. Many clinical studies are underway exploring the potential for in utero gene therapy.Prenatal gene therapy could provide a cure for many monogenic diseases. Prenatal gene therapy has multiple potential advantages over postnatal therapy, including treating before the onset of disease, the ability to induce tolerance and cross the blood-brain barrier. In this chapter, we will describe in utero gene therapy and its rationale, clinical trials of postnatal gene therapy, preclinical studies of in utero gene therapy, and potential risks to the mother and fetus.
Bone and lung are the common sites of metastasis in pediatric round cell tumors and its presence indicates poor outcomes. Staging workup for these malignancies thus includes bone marrow biopsy (BMB) along with evaluation of thorax, and tissue analysis for N MYCN status in neuroblastoma. BMB is an invasive procedure requiring general anesthesia with known disadvantages.With an aim of avoiding an invasive BMB a study was taken up to evaluate efficacy of FDG PET CT in detecting marrow involvement in neuroblastoma and rhabdomyosarcoma at staging.
Prospective observational study evaluated 83 newly diagnosed treatment naïve patients of neuroblastoma (n = 43) and rhabdomyosarcoma (n = 42) who underwent conventional imaging of PETCT with CECT of local region along with a CT thorax and BMB (both iliac crest) done within 1 week. Findings of FDG PETCT were compared with bone marrow histology and accuracy parameters were calculated.
The overall sensitivity, specificity, accuracy, positive-predictive value (PPV), negative-predictive value (NPV) of FDG PETCT for detection of marrow disease was 100%, 86.1%, 89.4%. 68.9% and 100%, respectively. Subset analysis showed sensitivity, specificity, PPV and NPV of 100%, 66%, 71.4% and 100%, respectively, for neuroblastoma, with rhabdomyosarcoma patients having few events NPV of 100% accuracy of 97.6%.
FDG PETCT with sensitivity and NPV of 100% can be considered as a first stop imaging and biopsy can be avoided in patients with a negative scan.
FDG PETCT with sensitivity and NPV of 100% can be considered as a first stop imaging and biopsy can be avoided in patients with a negative scan.
The high prevalence of trauma in the United States and its adverse effects on patient wellbeing has led to the adoption of trauma-informed care (TIC) in some specialized health care services. However, the implementation of TIC in primary care, where many nurse practitioners (NPs) provide services, is relatively uncommon and the concept not well-defined. Trauma includes physically and emotionally devastating experiences that have a lasting impact on individuals.
To synthesize a definition of TIC in the primary care setting for NPs to guide future practice and research.
We searched CINAHL, PsycINFO, Social Work Abstracts, Scopus, and PubMed for articles published 2010-2020 that described the use of TIC in primary care. Rodgers' evolutionary method and the framework method of analysis were used to identify attributes and contexts of TIC in primary care and synthesize a definition. Thirty-one articles from nursing, medical, and social work sources were selected, including data-based studies (n = 15) and thought pieces (n = 16). Attributes, antecedents, and consequences were combined to provide a definition grounded in the literature.
Trauma-informed care in primary care is a strengths-based approach in which trained, trauma-aware health care professionals provide services that prioritize safety, empowerment, and support, resulting in improved patient satisfaction and health care engagement in individuals who have experienced trauma.
A clearly defined concept provides a starting point for developing strategies to help NPs recognize and respond more effectively to the needs of patients who have experienced trauma.
A clearly defined concept provides a starting point for developing strategies to help NPs recognize and respond more effectively to the needs of patients who have experienced trauma.
Prolonged grief disorder's (PGD's) recent recognition as a psychiatric diagnosis has elicited concerns about stigmatization. Although prior research demonstrated that PGD elicits public stigma, moderators of this effect are unclear, and the effect requires replication in an English-speaking population. Therefore, we investigated the effects of PGD, sex of the bereaved, and death expectedness on public stigma toward bereaved persons. We randomly assigned 195 Australian adults (77% female; mean age, 35.7 years) to read one of eight vignettes describing a bereaved male or female subject, with or without PGD, after an expected or unexpected death. Participants reported their emotional reactions and negative attributions toward, and desired social distance from, the bereaved person. A person with PGD (vs. without) elicited stronger emotional reactions, negative attributions, and desired social distance. No robust moderator effects emerged. Results validate concerns that PGD causes stigma. Stigmatization may be tte concerns that PGD causes stigma. Stigmatization may be targeted by information campaigns or psychological treatment.
Half of patients with schizophrenia experience suicidal ideation. Only few studies have examined the effects of recent stress on both current and emergent suicidal ideation.A cohort of 85 patients with schizophrenia spectrum disorders was assessed. The study was divided into a cross-sectional and longitudinal arms to test the effect of recent stress on suicidal ideation. Analysis was done using logistic regression models.After correcting for covariates, recent stress had no significant effect on current suicidal ideation. However, increased total stress (odds ratio [OR] = 1.099 [1.032-1.170], p = 0.003) and health-related stress (OR = 1.331 [1.074-1.650], p = 0.009) at follow-up were predictive of emergent suicidal ideation.With this sample size, we were unable to draw firm conclusions regarding the effect of specific life events on suicidal ideation. Further studies involving larger samples that investigate the interplay between several risk factors are needed.
Half of patients with schizophrenia experience suicidal ideation. Only few studies have examined the effects of recent stress on both current and emergent suicidal ideation.A cohort of 85 patients with schizophrenia spectrum disorders was assessed. The study was divided into a cross-sectional and longitudinal arms to test the effect of recent stress on suicidal ideation. Analysis was done using logistic regression models.After correcting for covariates, recent stress had no significant effect on current suicidal ideation. However, increased total stress (odds ratio [OR] = 1.099 [1.032-1.170], p = 0.003) and health-related stress (OR = 1.331 [1.074-1.650], p = 0.009) at follow-up were predictive of emergent suicidal ideation.With this sample size, we were unable to draw firm conclusions regarding the effect of specific life events on suicidal ideation. Further studies involving larger samples that investigate the interplay between several risk factors are needed.
To report a case of non-paraneoplastic autoimmune retinopathy (npAIR) with phenotypical features of pericentral retinal degeneration (PRD) who responded to intravenous immunoglobulin therapy.
A case report.
A 27-year-old male presented with a recent subacute progressive nyctalopia and photopsia.
Dilated fundoscopy demonstrated confluent yellow-white patches along the main temporal vascular arcades with sparing of the central island in the posterior pole. Color vision, fundus autofluorescence, fluorescein angiography, static visual field, and electroretinographic studies were inconclusive for retinal degeneration. Subsequent genetic testing for known mutations were negative. Work-up for paraneoplastic autoimmune retinopathy was negative. ABT-199 nmr Anti-retinal antibodies were positive. The patient was diagnosed with non-paraneoplastic autoimmune retinopathy and was treated with intravenous immunoglobulin, which resulted in objective and subjective improvement on electroretinography, visual field, and optical coherence tomography of retina.
and importance Non-paraneoplastic autoimmune retinopathy may present in a patient with the clinical phenotype of PRD. It is essential to rule out non-paraneoplastic autoimmune retinopathy in patients with subacute changes in the natural course of pericentral retinal degeneration, as treatment with intravenous immunoglobulin may be helpful.
and importance Non-paraneoplastic autoimmune retinopathy may present in a patient with the clinical phenotype of PRD. It is essential to rule out non-paraneoplastic autoimmune retinopathy in patients with subacute changes in the natural course of pericentral retinal degeneration, as treatment with intravenous immunoglobulin may be helpful.
To report a novel presentation of bilateral paracentral acute middle maculopathy (PAMM) and peripheral vascular occlusions in Behçet's disease (BD).
A retrospective case report with multimodal imaging studies of a patient with BD.
A 58-year-old Chinese man presented with a paracentral scotoma, fever, arthralgias and skin rash. HLA typing revealed HLA-B51 positivity. Ophthalmic examination showed peripheral retinal hemorrhages and fluorescence angiography (FA) demonstrated vascular occlusions in the peripheral retina bilaterally. Optical coherence tomography (OCT) showed classic acute PAMM lesions in both eyes.
PAMM and peripheral vascular occlusion are infrequent and unconventional presentations of BD. To the best of our knowledge, this is the first report in the ophthalmic literature of PAMM and peripheral vascular occlusion in BD.
PAMM and peripheral vascular occlusion are infrequent and unconventional presentations of BD. To the best of our knowledge, this is the first report in the ophthalmic literature of PAMM and peripheral vascular occlusion in BD.
The environmental impact of the Fukushima Daiichi nuclear power plant accident is a source of ongoing concern as there is uncertainty regarding the effects of chronic radiation exposure on local plant and animal life from Fukushima-derived radionuclides. In the current study, changes in proteomic biomarker expression due to chronic environmentally-derived radiation exposures was examined in wild field mice. Serum from 10 wild field mice (Apodemus speciosus) native to the Fukushima difficult-to-return zone and from eight wild field mice native to the Soma area (control) were collected. External dose estimations were completed using measurements of ambient radiation levels and calculating 137Cs concentrations in soil. Internal dose was estimated by counting whole mice using an HPGe detector. Age of the mice was estimated using molar wear. Serum was screened using the aptamer-based SOMAscan proteomic assay technology for changes in expression of 1,310 protein analytes. A subset panel of protein biomarkers that demonstrated significant changes in expression between control and exposed mice was determined and analyzed using Ingenuity Pathway Analysis (IPA).
Homepage: https://www.selleckchem.com/products/abt-199.html
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