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OBJECTIVES: To describe linguistic differences in letters of recommendation (LORs) for pediatric fellowship candidates based on applicant and letter writer demographics and to examine if these differences influenced the decision to interview a candidate for a fellowship position. STUDY DESIGN: LORs for applicants to 8 pediatric subspecialty fellowships at a single academic center from the 2020 Match were analyzed in this cross-sectional study. Frequency of validated agentic and communal terms in each letter were determined by a language processing web application. Bias was determined as having a >5% surplus of agentic or communal terms. RESULTS: We analyzed 1521 LORs from 409 applicants: 69% were women, 28% were under-represented minorities in medicine (URM), and 50% were invited to interview. Overall, 66% of LORs were agentic biased, 16% communal biased, and 19% neutral. There was no difference in bias in LORs by an applicant's gender (woman 67% agentic vs man 62% agentic; P = .058), race, or ethnicity (non-URM 65% agentic vs URM 67% agentic; P = .660). Despite a lower frequency of agentic terms in LORs for applicants invited for interviews, when accounting for other components of an application and applicant demographics, no significant association was made between language bias in LORs and fellowship interview status. CONCLUSIONS: The frequency of agentic and communal terms in LORs for pediatric subspecialty fellowship candidates were not found to influence the decision to invite a candidate to interview. However, raising awareness of potential areas of bias within the pediatric fellowship selection process might lead to a more equitable and holistic approach to application review.
Subject(s)
Internship and Residency , Racism , Male , Humans , Female , Child , Fellowships and Scholarships , Cross-Sectional Studies , Language , Personnel SelectionABSTRACT
BACKGROUND: The increasing number of childhood cancer survivors necessitates continued follow-up to monitor for long-term complications. Inequities in loss to follow-up for patients enrolled on pediatric clinical trials have not been well studied. METHODS: This was a retrospective study of 21,084 patients residing in the United States enrolled on phase 2/3 and phase 3 Children's Oncology Group (COG) trials between January 1, 2000 and March 31, 2021. Rates of loss to follow-up to COG were evaluated using log-rank tests and multivariable Cox proportional hazards regression models with adjusted hazard ratios (HRs). Demographic characteristics included age at enrollment, race, ethnicity, and zip code level socioeconomic data. RESULTS: Adolescent and young adult (AYA) patients 15-39 years old at diagnosis had an increased hazard of loss to follow-up compared to patients 0-14 years old (HR, 1.89; 95% confidence interval (CI), 1.76-2.02). In the overall cohort, non-Hispanic Blacks were found to have an increased hazard of loss to follow-up compared to non-Hispanic Whites (HR, 1.56; 95% CI, 1.43-1.70). Among AYAs, the highest loss to follow-up rates were among non-Hispanic Blacks (69.8% ± 3.1%), patients on germ cell tumor trials (78.2% ± 9.2%), and patients living in zip codes with a median household income ≤150% of the federal poverty line at diagnosis (66.7% ± 2.4%). CONCLUSIONS: AYAs, racial and ethnic minority patients, and those living in lower socioeconomic status areas had the highest rates of loss to follow-up among clinical trial participants. Targeted interventions are warranted to ensure equitable follow-up and improved assessment of long-term outcomes. PLAIN LANGUAGE SUMMARY: Little is known about disparities in loss to follow-up for pediatric cancer clinical trial participants. In this study, we found that participants who were adolescents and young adults when treated, those who identified as a racial and/or ethnic minority, or those residing in areas with lower socioeconomic status at diagnosis were associated with higher rates of loss to follow-up. As a result, the ability to assess their long-term survival, treatment-related health conditions, and quality of life is hindered. These findings suggest the need for targeted interventions to improve long-term follow-up among disadvantaged pediatric clinical trial participants.
Subject(s)
Ethnicity , Minority Groups , Humans , Child , Adolescent , Young Adult , United States/epidemiology , Adult , Infant, Newborn , Infant , Child, Preschool , Retrospective Studies , Follow-Up Studies , Quality of LifeABSTRACT
BACKGROUND/OBJECTIVES: Surgery is the mainstay of therapy for children with ovarian immature teratoma (IT), whereas adults receive adjuvant chemotherapy, except those with stage-I, grade-1 disease. In Brazil, children with metastatic ovarian IT received postoperative chemotherapy. This practice variation allowed evaluation of the value of chemotherapy, by comparison of Brazilian patients with those in the United States and United Kingdom. DESIGN/METHODS: From the Malignant Germ Cell International Consortium data commons, data on ovarian IT patients from two recently added Brazilian trials (TCG-99/TCG-2008) were compared with data from US/UK (INT-0106/GC-2) trials. Primary outcome measure was event-free (EFS) and overall survival (OS). RESULTS: Forty-two Brazilian patients were included (stage I: 27, stage II: 4, stage III: 8, stage IV: 3). Twenty-nine patients had surgery alone, whereas 13 patients received postoperative chemotherapy. The EFS and OS for entire cohort was 0.80 (95% CI: 0.64-0.89) and 0.97 (0.84-0.99). There was no difference in relapse risk based on stage, grade, or receipt of chemotherapy. Comparing the Brazilian cohort with 98 patients in US/UK cohort (stage I: 59, stage II: 12, stage III: 27), there was no difference in EFS and OS across all stages, despite 87% of stage II-IV Brazilian patients receiving postoperative chemotherapy compared with only 13% of US/UK patients. The EFS and OS for Brazilian compared with US/UK cohort was stage I: 88% versus 98% (p = .05), stage II-IV EFS: 67% versus 79% (p = .32), stage II-IV OS: 93% versus 97% (p = .44); amongst grade-3 patients, there was no difference in EFS or OS. CONCLUSION: Addition of postoperative chemotherapy did not improve outcome in children with ovarian IT, even at higher grade or stage, compared with surgery alone.
Subject(s)
Ovarian Neoplasms , Teratoma , Adult , Female , Humans , Child , United States , Ovarian Neoplasms/drug therapy , Ovarian Neoplasms/surgery , Ovarian Neoplasms/pathology , Teratoma/drug therapy , Teratoma/pathology , Chemotherapy, AdjuvantABSTRACT
BACKGROUND: Disparities in survival by race/ethnicity, socioeconomic status (SES), and geography in adolescent and young adult (AYA) patients with central nervous system (CNS) tumors have not been well studied. PROCEDURE: A retrospective cohort study utilizing the Surveillance, Epidemiology, and End Results (SEER) database was conducted for AYA patients diagnosed with primary CNS tumors. Adjusted hazard ratios (aHR) were calculated using a multivariate Cox proportional hazard model to evaluate the association between race/ethnicity, SES, rurality, and hazard of death. RESULTS: All minority groups showed an increased hazard of death with greatest disparities in the high-grade glioma cohort. Lower SES was associated with an increased hazard of death in non-Hispanic White (NHW) patients (aHR 1.12; 95% confidence interval [CI] 1.01-1.24), non-Hispanic Black (NHB) patients (aHR 1.34; 95% CI 1.00-1.80), and patients aged 25-29 years (aHR 1.29; 95% CI 1.07-1.55). Mediation analysis showed an indirect effect of SES on the effect of race/ethnicity on the hazard of death only among NHB patients, with SES accounting for 33.7% of the association between NHB and hazard of death. Rurality was associated with an increased hazard of death for patients in the lowest SES tertile (aHR 1.31; 95% CI 1.08-1.59) and NHW patients (aHR 1.20; 95% CI 1.08-1.34). CONCLUSIONS: Patients identified as a racial/ethnic minority, patients with a lower SES, and patients residing in rural areas had an increased hazard of death. Further studies are needed to understand and address the biological, psychosocial, societal, and economic factors that impact AYA neuro-oncology patients at highest risk of experiencing poorer outcomes.
Subject(s)
Central Nervous System Neoplasms , Ethnicity , Adolescent , Central Nervous System Neoplasms/epidemiology , Ethnic and Racial Minorities , Humans , Minority Groups , Retrospective Studies , SEER Program , Social Class , Survival Rate , Young AdultABSTRACT
OBJECTIVES: While the use of telemedicine has accelerated significantly with the recent pandemic, it has also magnified disparities in access to telemedicine. This study aims to look at telemedicine utilization patterns within a large pediatric gastroenterology practice. METHODS: A retrospective study of ambulatory care visits within Yale-New Haven Hospital's pediatric gastroenterology practice during the peak expansion of the telemedicine program was conducted. Zip code-level socioeconomic data were obtained using the Distressed Communities Index. A multivariate logistic regression to evaluate disparities between the use of video versus telephone visits was computed, and unadjusted and adjusted odds ratios with 95% confidence intervals (CIs) were obtained. RESULTS: A total of 1273 clinic visits were included in analysis. The majority of the patients listed English as their preferred language, had private insurance, and identified as non-Hispanic White. When adjusting for co-variates, having public insurance/Medicaid was associated with decreased odds of having video over telephone visits (adjusted odds ratio [aOR] 0.60; 95% CI 0.44-0.80). Those whose primary language was not English continued to have a statistically significant decreased odds of using video visits (Spanish aOR 0.24; 95% CI 0.13-0.44; other aOR 0.29; 95% CI 0.12-0.72). Within the adjusted multivariate logistic regression, race/ethnicity and SES were, however, no longer found to have a statistically significant decreased odds of video visits. CONCLUSIONS: The accelerated implementation of telemedicine within pediatric gastroenterology has given rise to disparities in its use. Further studies are needed to understand these disparities and develop interventions to lessen this gap in usage.
Subject(s)
Gastroenterology , Telemedicine , Ambulatory Care , Child , Humans , Medicaid , Retrospective Studies , United StatesABSTRACT
Pediatric spinal cord glioblastoma multiforme is a rare entity with a poor prognosis often presenting with lower extremity weakness or paralysis. Previous literature suggests that aggressive surgical resection may provide overall survival benefit; however, there is limited concurrent analysis demonstrating neurological recovery following surgical resection. We report the case of a 9-year-old boy who presented with complete paraplegia and regained the ability to ambulate independently following subtotal surgical resection, radiation, and chemotherapy. The case demonstrates the balance between meaningful neurological recovery and overall survival when deciding on the extent of resection in cases of pediatric spinal glioblastoma multiforme.
Subject(s)
Glioblastoma/surgery , Paraplegia/etiology , Recovery of Function , Spinal Cord Neoplasms/surgery , Chemotherapy, Adjuvant , Child , Combined Modality Therapy/methods , Glioblastoma/complications , Glioblastoma/pathology , Humans , Male , Paraplegia/surgery , Radiotherapy, Adjuvant , Spinal Cord Neoplasms/complications , WalkingABSTRACT
Low grade gliomas (LGGs) are the most common type of brain tumors diagnosed in children. The presentation of intracranial tumors in pediatric patients is varied and diverse. The early identification and treatment of LGGs are important to achieve favorable outcomes. Although personality changes can be a symptom of intracranial tumors, they are rarely the only main presenting feature. In addition to central nervous system (CNS) tumors, personality changes can be associated with psychological and endocrine conditions, contributing to a broad differential diagnosis. Because symptoms such as personality changes have the potential to be missed, communication between family members and clinicians is imperative to identify these symptoms early. We report the case of a 12-year-old child who presented with personality changes as her main symptom and was found to have an intracranial neoplasm. This case report integrates original author writing with output from ChatGPT, a natural language processing tool driven by artificial intelligence (AI). In addition to the case itself, this report will explore the benefits and drawbacks of using natural language AI in this context.
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BACKGROUND: For adolescents and young adults, a cancer diagnoses can magnify feelings of social isolation at an inherently vulnerable developmental stage. Prior studies have highlighted the importance of peer groups during cancer treatment. Support groups help foster connection and resilience, but patients find in-person participation difficult due to a variety of factors. Additionally, physical changes brought on by cancer makes these patients hesitant to meet in person. The COVID-19 pandemic magnified these difficulties. Virtual reality (VR) allows for the creation of a therapist-curated, computer-generated social space that potentially enables support groups for this population. OBJECTIVE: This protocol describes a pilot study examining the efficacy, feasibility, and acceptability of a social VR support group intervention for adolescent and young adult patients with cancer. METHODS: We approached 20 participants aged 17-20 years, and 16 agreed to participate. Moreover, 1 participant dropped out due to hospitalization. Participants attended virtual, professionally facilitated support groups using Meta Quest VR headsets. The groups consisted of 4 participants and 1 facilitator, amounting to a total of 22 individual sessions. Each session lasted 45-60 minutes and took place weekly for 4-6 weeks. The primary aim of this study was to collect quantitative and qualitative data on the feasibility and acceptability of the intervention. Feasibility was measured through session participation rates and overall retention rates. The acceptability of the intervention was explored through brief in-person interviews with participants at the end of the final intervention session. The secondary aim of this study was to collect data on the preliminary efficacy of the intervention in decreasing symptoms of participant depression and anxiety and increasing positive affect and resiliency. RESULTS: In total, 15 patients aged 17-20 years participated in 22 sessions between November 5, 2019, and July 8, 2021. The median age was 19 (IQR 17-20) years. Overall, 10 (62%) participants identified as male, 5 (31%) as female, and 1 (6%) as transgender female. Furthermore, 5 (31%) participants identified as Hispanic, 1 (6%) identified as non-Hispanic Asian, 3 (19%) identified as non-Hispanic Black, 6 (38%) identified as non-Hispanic White, and 1 (6%) identified as other race or ethnicity. Hematologic malignancies or bone marrow failure was the most common diagnosis (8/16, 50%). The mean attendance rate was 72.8% (SD 25.7%) and retention was 86.7% (SD 0.35%). Moreover, 45% (10/22) of sessions had to be postponed by a week or more due to unexpected participant scheduling issues. CONCLUSIONS: The use of VR to deliver psychosocial support for adolescents and young adults with cancer may reduce common barriers associated with attending in-person peer support groups while improving quality-of-life measures. The data from this study will inform future studies focused on conducting VR support groups in other rare disease populations, including older adults with cancer. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): DERR1-10.2196/48761.
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BACKGROUND: Advancements in treatment and supportive care have led to improved survival for adolescents and young adults (AYAs) with cancer; however, a subset of those diagnosed remain at risk for early death (within 2 months of diagnosis). Factors that place AYAs at increased risk of early death have not been well studied. METHODS: The Surveillance, Epidemiology, and End Results registry was used to assess risk of early death in AYAs with hematologic malignancies, central nervous system tumors, and solid tumors. Associations between age at diagnosis, sex, race, ethnicity, socioeconomic status, insurance status, rurality, and early death were assessed. RESULTS: A total of 268â501 AYAs diagnosed between 2000 and 2016 were included. Early death percentage was highest in patients diagnosed with hematologic malignancies (3.1%, 95% confidence interval [CI] = 2.9% to 3.2%), followed by central nervous system tumors (2.5%, 95% CI = 2.3% to 2.8%), and solid tumors (1.0%, 95% CI = 0.9% to 1.0%). Age at diagnosis, race, ethnicity, lower socioeconomic status, and insurance status were associated with increased risk of early death in each of the cancer types. For AYAs with hematologic malignancies and solid tumors, risk of early death decreased statistically significantly over time. CONCLUSIONS: A subset of AYAs with cancer remains at risk for early death. In addition to cancer type, sociodemographic factors also affect risk of early death. A better understanding of the interplay of factors related to cancer type, treatment, and health systems that place certain AYA subsets at higher risk for early death is needed to address these disparities and improve outcomes.
Subject(s)
Central Nervous System Neoplasms , Hematologic Neoplasms , Neoplasms , Humans , Adolescent , Young Adult , Neoplasms/epidemiology , Neoplasms/therapy , Ethnicity , Social Class , Central Nervous System Neoplasms/epidemiology , Central Nervous System Neoplasms/therapy , RegistriesABSTRACT
OBJECTIVE: To describe differences in agentic (achievement) and communal (relationship) terms in letters of recommendation (LORs) for pediatric residency candidates by applicant and letter writer demographics and to examine if LOR language is associated with interview status. METHODS: A random sample of applicant profiles and LORs submitted to one institution were analyzed from the 2020-21 Match. Letters of recommendation text was inputted into a customized natural language processing application which determined the frequency of agentic and communal words in each LOR. Neutral LORs were defined as having< 5% surplus of agentic or communal terms. RESULTS: We analyzed 2094 LORs from 573 applicants: 78% were women, 24% were under-represented in medicine (URiM), and 39% were invited to interview. Most letter writers were women (55%) and of senior academic rank (49%). Overall, 53% of LORs were agency biased, 25% communal biased, and 23% neutral. There was no difference in agency and communally biased LORs by an applicant's gender (men 53% agentic vs women 53% agentic, P = .424), race or ethnicity (non-URiM 53% agentic vs URiM 51% agentic, P = .631). Male letter writers used significantly more agentic terms (8.5%) compared to women (6.7% agentic) or writers of both genders (3.1% communal) (P = .008). Applicants invited to interview were more likely to have a neutral LOR; however, no significant association existed between language and interview status. CONCLUSIONS: No significant differences in language were found by applicant gender or race among pediatric residency candidates. Identifying potential biases within pediatric residency selection processes is important in creating an equitable approach to application review.
Subject(s)
Internship and Residency , Child , Humans , Male , Female , Personnel Selection , Language , DemographyABSTRACT
PURPOSE: Medulloblastoma is known to be associated with multiple cancer-predisposition syndromes. In this article, we explore a possible association among a patient's Aarskog-Scott syndrome, development of medulloblastoma, and subsequent brainstem radiation necrosis. CASE PRESENTATION: A 5-year-old male with Aarskog-Scott syndrome initially presented to his pediatrician with morning emesis, gait instability, and truncal weakness. He was ultimately found to have a posterior fossa tumor with pathology consistent with group 3 medulloblastoma. After receiving a gross total resection and standard proton beam radiation therapy with concurrent vincristine, he was noted to develop brainstem radiation necrosis, for which he underwent therapy with high-dose dexamethasone, bevacizumab, and hyperbaric oxygen therapy with radiographic improvement and clinical stabilization. CONCLUSION: Based on several possible pathologic correlates in the FDG1 pathway, there exists a potential association between this patient's Aarskog-Scott syndrome and medulloblastoma, which needs to be investigated further. In patients with underlying, rare genetic syndromes, further caution should be taken when evaluating chemotherapy and radiation dosimetry planning.
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PURPOSE: The population of adolescent and young adult (AYA, ages 15-39 years) diffuse large B-cell lymphoma (DLBCL) survivors is growing, however long-term overall survival patterns and disparities are largely unknown. METHODS: The current study utilized the Surveillance, Epidemiology, and End Results (SEER) registry to assess the impact of race/ethnicity, sex, socioeconomic status, and rurality on long-term survival in 5-year DLBCL survivors using an accelerated failure time model. RESULTS: Included were 4767 5-year survivors of AYA DLBCL diagnosed between the years 1980 and 2009 with a median follow-up time of 13.4 years. Non-Hispanic Black survivors had significantly worse long-term survival than non-Hispanic White survivors (Survival Time Ratio (STR): 0.53, p < 0.0001). Male sex (STR: 0.57, p < 0.0001) and older age at diagnosis were also associated with reduced long-term survival. There was no evidence that survival disparities improved over time. CONCLUSIONS: Racial disparities persist well into survivorship among AYA DLBCL survivors. Studies investigating specific factors associated with survival disparities are urgently needed to better address these disparities.
Subject(s)
Lymphoma, Large B-Cell, Diffuse , Adolescent , Adult , Aged , Ethnicity , Humans , Lymphoma, Large B-Cell, Diffuse/epidemiology , Male , SEER Program , Social Class , Survivors , Young AdultABSTRACT
BACKGROUND: Although there are growing numbers of adolescent and young adult (AYA) Hodgkin lymphoma (HL) survivors, long-term overall survival (OS) patterns and disparities in this population are underreported. The aim of the current study was to assess the impact of race/ethnicity, socioeconomic status (SES), rurality, diagnosis age, sex, and HL stage over time on long-term survival in AYA HL survivors. METHODS: The authors used the Surveillance, Epidemiology, and End Results (SEER) registry to identify survivors of HL diagnosed as AYAs (ages 15-39 years) between the years 1980 and 2009 and who were alive 5 years after diagnosis. An accelerated failure time model was used to estimate survival over time and compare survival between groups. RESULTS: There were 15,899 5-year survivors of AYA HL identified, with a median follow-up of 14.4 years and range up to 33.9 years from diagnosis. Non-Hispanic black survivors had inferior survival compared with non-Hispanic white survivors [survival time ratio (STR): 0.71, P = 0.002]. Male survivors, older age at diagnosis, those diagnosed at higher stages, and those living in areas of higher SES deprivation had unfavorable long-term survival. There was no evidence of racial or sex-based survival disparities changing over time. CONCLUSIONS: Racial, SES, and sex-based disparities persist well into survivorship among AYA HL survivors. IMPACT: Disparities in long-term survival among AYA HL survivors show no evidence of improving over time. Studies investigating specific factors associated with survival disparities are needed to identify opportunities for intervention.
Subject(s)
Cancer Survivors/statistics & numerical data , Hodgkin Disease/mortality , Social Determinants of Health/statistics & numerical data , Adult , Disease-Free Survival , Female , Health Status Disparities , Humans , Male , Retrospective Studies , SEER Program , Socioeconomic Factors , Young AdultABSTRACT
STUDY DESIGN: Retrospective single-institution study. OBJECTIVE: The aim of this study was to determine the relationship between patients' insurance status and the likelihood for them to be recommended various spine interventions upon evaluation in our neurosurgical clinics. SUMMARY OF BACKGROUND DATA: Socioeconomically disadvantaged populations have worse outcomes after spine surgery. No studies have looked at the differential rates of recommendation for surgery for patients presenting to spine surgeons based on socioeconomic status. METHODS: We studied patients initially seeking spine care from spine-fellowship trained neurosurgeons at our institution from July 1, 2018 to June 30, 2019. Multivariable logistic regression was used to assess the association between insurance status and the recommended patient treatment. RESULTS: Overall, 663 consecutive outpatients met inclusion criteria. Univariate analysis revealed a statistically significant association between insurance status and treatment recommendations for surgery (Pâ<â0.001). Multivariate logistic regression demonstrated that compared with private insurance, Medicare (odds ratio [OR] 3.54, 95% confidence interval [CI] 1.21-7.53, Pâ=â0.001) and Medicaid patients (OR 2.46, 95% CI 1.21-5.17, Pâ=â0.014) were more likely to be recommended for surgery. Uninsured patients did not receive recommendations for surgery at significantly different rates than patients with private insurance. CONCLUSION: Medicare and Medicaid patients are more likely to be recommended for spine surgery when initially seeking spine care from a neurosurgeon. These findings may stem from a number of factors, including differential severity of the patient's condition at presentation, disparities in access to care, and differences in shared decision making between surgeons and patients.Level of Evidence: 3.
Subject(s)
Medicaid , Medicare , Aged , Humans , Insurance Coverage , Insurance, Health , Retrospective Studies , United StatesABSTRACT
BACKGROUND: The legal implications associated with illicit drug use during pregnancy are significant, as providers are required to notify child protective services when a drug-exposed infant is identified. CASE REPORT: The case presented involves possible specimen mishandling in two infants at risk for in utero drug exposure and describes alternative methodologies available to confirm specimen identity. CONCLUSIONS: It is critical that institutions establish and adhere to stringent procedures when screening newborns.
Subject(s)
Cocaine , Pharmaceutical Preparations , Pregnancy Complications , Substance-Related Disorders , Child , Female , Humans , Infant , Infant, Newborn , Mass Screening , Pregnancy , Substance-Related Disorders/diagnosisABSTRACT
Primary mediastinal (thymic) large B-cell lymphoma (PMBL) is described as almost always negative for Epstein-Barr virus (EBV). In the context of a mediastinal lymphoma, the distinction between PMBL, classical Hodgkin lymphoma, diffuse large B-cell lymphoma, and mediastinal gray-zone lymphoma can be very difficult; hence, EBV positivity often argues against PMBL. We present a 19-year-old man with mediastinal mass morphologically consistent with PMBL. The tumor expressed classic immunophenotype, including positivity for CD20, CD19, MAL, OCT2, BOB1, BCL6, CD79a, and subset positivity for CD30. However, the tumor was EBV-positive by in situ hybridization. Next-generation sequencing detected somatic mutations in XPO1 (E571K), SMARCB1 (L356fs), and MYCC (T73A). Although the immunophenotype and XPO1 mutation are characteristic of PMBL, EBV expression is uncommon. Since EBV positivity can occur in rare PMBLs, it should not be the deciding factor in the diagnosis. This is the first EBV-positive PMBL in which mutational profiling has been reported. Aside from providing diagnostic support, the finding of the XPO1 E571K mutation may suggest a targeted therapeutic option.
Subject(s)
Biomarkers, Tumor/metabolism , Epstein-Barr Virus Infections/diagnosis , Herpesvirus 4, Human/physiology , Karyopherins/metabolism , Lymphoma, Large B-Cell, Diffuse/diagnosis , Mediastinal Neoplasms/diagnosis , Receptors, Cytoplasmic and Nuclear/metabolism , Thymus Neoplasms/diagnosis , Adult , Diagnosis, Differential , Epstein-Barr Virus Infections/genetics , Epstein-Barr Virus Infections/pathology , High-Throughput Nucleotide Sequencing , Humans , Immunohistochemistry , Immunophenotyping , Karyopherins/genetics , Karyopherins/immunology , Lymphoma, Large B-Cell, Diffuse/genetics , Lymphoma, Large B-Cell, Diffuse/pathology , Male , Mutation/genetics , Receptors, Cytoplasmic and Nuclear/genetics , Receptors, Cytoplasmic and Nuclear/immunology , Thymus Neoplasms/genetics , Thymus Neoplasms/pathology , Young Adult , Exportin 1 ProteinABSTRACT
We report a term female infant with congenital heart block and total anomalous of pulmonary venous return. The results of single nucleotide polymorphism oligonucleotide microarray analysis showed an interstitial duplication of approximately 818 Kb, which involved 11 genes, including the entire LAMB3 gene which is known to associate with cardiac conduction defect. Our report adds to the collective knowledge that the cardiac conduction defect is a clinical feature of chromosome 1q32.2 duplication.
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Gastroschisis most often occurs as an isolated anomaly and extragastrointestinal associations are rare. Most commonly, the anomalies associated with gastroschisis are cardiac and central nervous system abnormalities. Respiratory insufficiency has sometimes been reported in association with giant abdominal wall defects. Poor outcomes and prolonged ventilator support have been reported in giant gastroschisis and omphalocele, especially if associated with herniation of the majority of the liver. We report a case of a large gastroschisis that was associated with a kyphoscoliosis and pulmonary hypoplasia.
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Multiple myeloma (MM) rarely presents with a primary neurological dysfunction, and if it does it is usually due to a plasmacytoma. This is the first case to discuss hypoglossal nerve dysfunction as the first sign of MM progression secondary to severe pathophysiologic bone lysis. A PubMed-based literature search was completed on April 17, 2016 for the terms "multiple myeloma" and "hypoglossal nerve neuropathy". A 73-year-old woman with known MM who received little treatment for several years, presented secondary to dysarthria and at first was thought to have hyperviscosity syndrome. On further examination, it was found she had light chain disease and her symptoms were secondary to severe disease progression. Imaging revealed multiple lytic lesions in the skull on skeletal survey and brain MRI revealed boney lysis near the occipital condyle and clivus likely interfering with the coursing of the hypoglossal nerve. Advanced progressing MM can cause severe boney destruction which can interfere with cranial nerve canals and cause neuropathy as a presenting symptom.