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1.
Acta Haematol ; 146(4): 316-321, 2023.
Article En | MEDLINE | ID: mdl-37285821

The imatinib-sensitive fusion gene FIP1L1::PDGFRA is the most frequent molecular abnormality identified in patients with eosinophilic myeloid neoplasms. Rapid recognition of this mutation is essential given the poor prognosis of PDGFRA-associated myeloid neoplasms prior to the availability of imatinib therapy. We report a case of a patient in whom delayed diagnosis resulted in cardiac transplantation for eosinophilic endomyocardial fibrosis. The delay in diagnosis was due, in part, to a false-negative result in fluorescence in situ hybridization (FISH) testing for FIP1L1::PDGFRA. To explore this further, we examined our cohort of patients presenting with confirmed or suspected eosinophilic myeloid neoplasms and found 8 additional patients with negative FISH results despite a positive reverse-transcriptase polymerase chain reaction test for FIP1L1::PDGFRA. More importantly, false-negative FISH results delayed the median time to imatinib treatment by 257 days. These data emphasize the importance of empiric imatinib therapy in patients with clinical features suggestive of PDGFRA-associated disease.


Myeloproliferative Disorders , Neoplasms , Humans , Imatinib Mesylate/therapeutic use , Delayed Diagnosis , Piperazines/therapeutic use , Pyrimidines/therapeutic use , In Situ Hybridization, Fluorescence , Benzamides , Oncogene Proteins, Fusion/genetics , Myeloproliferative Disorders/drug therapy , Neoplasms/drug therapy
3.
J Allergy Clin Immunol Pract ; 8(8): 2718-2726.e2, 2020 09.
Article En | MEDLINE | ID: mdl-32344186

BACKGROUND: Eosinophilic gastrointestinal diseases (EGIDs) are defined by marked eosinophilia in the gastrointestinal (GI) tract resulting in a wide variety of GI symptoms. When accompanied by blood hypereosinophilia (HE; absolute eosinophil count ≥1500/mm3), EGID can occur as an isolated GI disorder (hypereosinophilic syndrome [HES]/EGID overlap) or as part of a multisystem hypereosinophilic syndrome (Multisystem HES). OBJECTIVE: To describe the GI disease of patients categorized as those with HES/EGID overlap versus those with Multisystem HES. METHODS: Consecutively enrolled patients on a natural history protocol to study eosinophilia with biopsy-proven EGID involving the esophagus, stomach, small-bowel, and/or colon were evaluated for clinical, histopathologic, and endoscopic features by retrospective chart review. RESULTS: Among the 56 patients with EGID and HE, 34 were categorized as HES/EGID overlap and 22 as Multisystem HES. Demographics, GI symptoms, and associated comorbidities were similar between the 2 groups. Multisegment GI eosinophilia was present in 20 of 30 (67%) patients who underwent tissue sampling of all 4 GI segments. Tissue eosinophilia in all 4 GI segments was found in 5 of 30 (17%) patients. Dietary therapy was more common in patients with HES/EGID overlap (65% vs 23%, P = .0028). Patients with Multisystem HES were more likely to receive glucocorticoids (100% vs 79%, P = .0349) and nonglucocorticoid systemic therapies (77% vs 38%, P = .0061). One-third (8 of 22) of patients with Multisystem HES presented with isolated GI symptoms before developing extraintestinal manifestations at a median of 1 year (range, 0.25-15 years). CONCLUSION: There are striking clinical similarities between patients with Multisystem HES and those with HES/EGID overlap, despite differing treatment approaches. Moreover, Multisystem HES can present with isolated GI involvement. Larger prospective studies are needed to confirm these findings.


Enteritis , Gastritis , Hypereosinophilic Syndrome , Enteritis/diagnosis , Gastritis/diagnosis , Gastritis/epidemiology , Humans , Hypereosinophilic Syndrome/diagnosis , Hypereosinophilic Syndrome/drug therapy , Prospective Studies , Retrospective Studies
4.
Trauma Violence Abuse ; 18(2): 223-236, 2017 04.
Article En | MEDLINE | ID: mdl-26459504

This review critically evaluates the literature on posttraumatic growth in survivors of interpersonal violence, integrating the findings from 12 quantitative and 4 qualitative studies. The following databases were searched using predetermined terms: AMED, EMBASE, MEDLINE, PsycINFO, BNI, CINAHL, and Web of Knowledge. The review's findings suggest that the mean prevalence of growth in interpersonal violence survivors is around 71% (range 58-99%). The highest level of growth was consistently experienced in the "appreciation of life" domain. However, survivors reported growth in the four remaining domains: "personal strength," "new possibilities," "experience of relationships with others," and "outlook on life." The nature of the relationship between growth and distress was inconsistent across studies. A combination of pretrauma, peritrauma, and posttrauma variables were found to be related to the degree of growth survivors experienced. Methodological weaknesses of the quantitative studies included the predominant use of retrospective, cross-sectional, correlational designs, discrepancy in the measurement of growth, insufficient sample sizes for power calculations in five studies and limited external validity. Qualitative findings were limited by sampling methods, insufficient information about interview schedules, the lack of credibility checks, and evidence of reflexivity demonstrated by some studies. Implications for practice, policy, and future research are discussed.


Domestic Violence/psychology , Exposure to Violence/psychology , Posttraumatic Growth, Psychological , Survivors/psychology , Cross-Sectional Studies , Female , Humans , Interpersonal Relations , Male , Qualitative Research , Retrospective Studies , Stress Disorders, Post-Traumatic/psychology
5.
J Child Sex Abus ; 25(2): 201-20, 2016.
Article En | MEDLINE | ID: mdl-26934545

Potential negative sequelae for survivors of child sexual abuse is well documented. However, growing evidence suggests that some individuals who actively cope with traumatic events can progress from a negative trajectory toward positive psychological change, often termed posttraumatic growth. Current posttraumatic growth theories may be of limited applicability to developmental considerations involved in child sexual abuse. This explorative study examines posttraumatic growth among adult female survivors of child sexual abuse. In-depth interviews were conducted with six participants who believed they had grown through coping with their abuse. Data was analyzed using interpretative phenomenological analysis. Three superordinate and nine subordinate themes were identified and explored. Some participants reported experiencing growth and distress simultaneously. Theoretical and clinical implications are examined in relation to the study's findings.


Adaptation, Psychological/physiology , Adult Survivors of Child Abuse/psychology , Child Abuse, Sexual/psychology , Stress Disorders, Post-Traumatic/psychology , Adult , Child , Culture , Female , Humans , Life Change Events , Psychological Theory
7.
Behav Cogn Psychother ; 40(1): 89-103, 2012 Jan.
Article En | MEDLINE | ID: mdl-21888739

BACKGROUND: Cognitive behavioural therapy (CBT) is increasingly being used to help children overcome emotional difficulties but its suitability is still a matter of debate. AIMS: This study investigated young anxious children's ability to generate alternative interpretations for events, a skill thought to be important for the effectiveness of CBT. METHOD: A community sample of 60 children aged 6-7 years (30 high and 30 low in anxiety) was tested. IQ, developmental level and the ability to generate alternative interpretations for ambiguous social scenarios were assessed. RESULTS: Both groups generated alternative interpretations. However, negative self-referent scenarios were more difficult to view from alternative perspectives than positive or other-referent scenarios. Correlation analyses suggested that verbal IQ was partially associated with this skill in both groups, while developmental level was most important in the high anxious group. A "personalizing" bias was found in the negative responses of both groups. CONCLUSIONS: It is concluded that young children, whether anxious or not, do possess the ability to complete one skill thought important in CBT. While difficulty with negative self-referent scenarios and personalizing seem to be normative in the sample, those most "at risk" who also have relatively lower developmental levels may find the task particularly difficult.


Anxiety Disorders/psychology , Aptitude , Cognitive Behavioral Therapy , Imagination , Internal-External Control , Social Environment , Adaptation, Psychological , Anxiety Disorders/diagnosis , Anxiety Disorders/therapy , Child , Defense Mechanisms , Female , Humans , Intelligence , Male , Perceptual Distortion , Personality Assessment , Self Concept , Social Perception
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