From Illness to Resilience: Mediating Factors of Quality of Life in Patients with Congenital Heart Disease.

Background: Congenital heart disease (CHD) is a leading cause of childhood morbidity, with an estimated prevalence of 0.8-1%. However, advances in diagnosis and treatment now allow 90% of childhood CHD patients to survive to adulthood, leading to increased interest in their quality of life (QoL). In this study, we examine the impact of clinical and psychosocial variables, including the number of surgical interventions (NSI), age at surgery, school achievement, and social support, as mediating factors of QoL in CHD patients. Methods: The study included 233 CHD patients (132 males) with an average age of 15.2 ± 2.07 years, including 80 with cyanotic CHD and 153 with acyanotic CHD. The severity of illness ranged from mild to severe, with 30 patients having a severe illness, 119 having a moderate illness, and 84 having a mild illness. One-hundred-sixty-three patients underwent surgery. Clinical data on diagnosis, the severity of CHD, the type of CHD, and surgical interventions were collected from patient records, and a semi-structured interview was conducted to explore the relationship between CHD diagnosis and various aspects of life. QoL was assessed using the Abbreviated World Health Organization Quality of Life questionnaire (WHOQOL-Bref) questionnaire. Results: Ten mediation models were analyzed, each with three hypotheses (paths). In all models the first hypothesis was supported. Analyses of the second and third hypotheses revealed three feasible models of mediation through the effect of NSI on QoL in CHD patients. Conclusions: Our findings indicate that patients with more severe and cyanotic CHD generally require more surgical interventions, which may increase the risk of negative outcomes and affect patients' perception of QoL. These results have important implications for healthcare providers and psychologists who work with childhood CHD patients.

Early variation of 18-fluorine-labelled fluorodeoxyglucose PET-derived parameters after chemoradiotherapy as predictors of survival in locally advanced pancreatic carcinoma patients.

OBJECTIVE: To investigate if early variation of PET-derived parameters after concomitant chemoradiotherapy (CRT) predicts overall survival (OS), local relapse free survival (LRFS), distant relapse free survival (DRFS) and progression free survival (PFS) in locally advanced pancreatic cancer (LAPC) patients. METHODS: Fifty-two LAPC patients (median age: 61 years; range: 35-85) with available FDG PET/CT before and after RT (2-6 months, median: 2) were enrolled from May 2005 to June 2015. The predictive value of the percentage variation of mean/maximum standard uptake value (ΔSUVmean/max), metabolic tumour volume (ΔMTV) and total lesion glycolysis (ΔTLG), estimated considering different uptake thresholds (40-50-60%), was investigated between pre- and post-RT PET. The percentage difference between gastrointestinal cancer-associated antigen (ΔGICA) levels measured at the time of PET was also considered. Log-rank test and Cox regression analysis were performed to assess the prognostic value of considered PET-derived parameters on survival outcomes. RESULTS: The median follow-up was 13 months (range: 4-130). At univariate analysis, ΔTLG50 showed borderline significance in predicting OS (P = 0.05) and was the most significant parameter correlated to LRFS and PFS (P = 0.001). Median LRFS was 4 and 33 months if ΔTLG50 was below or above 35% respectively (P = 0.0003); similarly, median PFS was 3 vs 6 months (P = 0.0009). No significant correlation was found between PET-derived parameters and DRFS, while the ΔGICA was the only borderline significant prognostic value for this endpoint (P = 0.05). CONCLUSION: PET-derived parameters predict survival in LAPC patients; in particular, ΔTLG50 is the strongest predictor. The combination of these biochemical and imaging biomarkers is promising in identifying patients at higher risk of earlier relapse.

Spanish version of the Substance Use Risk Profile Scale: factor structure, reliability, and validity in Mexican adolescents.

To validate the Substance Use Risk Profile Scale (SURPS) in a sample of Mexican adolescents, this brief 23-item self-report questionnaire has been developed to screen four high-risk personality traits for substance misuse, to guide targeted approaches to prevention of addictions in adolescents. The scale has been previously validated in United Kingdom, Canada, Sri Lanka and China. A sample of 671 adolescents aged 11-17 completed a Spanish translation of the SURPS as well as other measures of personality and substance use. The Spanish translation of the SURPS has moderate internal consistency, and demonstrated a four-factor structure very similar to the original scale. The four subscales show good concurrent validity and three of the subscales were found to correlate with measures of substance use. The Spanish translation of the SURPS seems to be a valid and sensitive scale that can be used in a Mexican adolescent population.

Ischemic stroke of the pyramidal decussation causing quadriplegia and anarthria.

A 52-year-old man with a history of hypertension and previously irradiated head and neck cancer presented with quadriplegia and anarthria sparing the face and sensory functions. Brain magnetic resonance imaging (MRI) demonstrated acute infarction of the pyramidal decussation. We describe the clinical and radiological characteristics of infarction at the pyramidal decussation and review the arterial supply to this region in the lower brainstem. Although rare, infarction of the pyramidal decussation should be considered in the differential diagnosis when patients present with atraumatic pure motor quadriplegia.

Necrotising dermatitis in refractory acute myeloid leukaemia.

Severe cutaneous infections in leukaemic patients are difficult to treat and can rapidly become fatal. We report on a case of essential thrombocythemia evolved to a myelodysplastic syndrome and finally, to an overt myeloid leukaemia, refractory to chemotherapy. In the presence of a marked neutropenia, the patients developed a wide Staphylococcus epidermidis necrotising dermatitis. The diagnosis was made possible only by a skin biopsy culture and the antibiotic treatment, based on antimicrobial susceptibility tests, rapidly resolved the infection. In neutropenic patients, appropriate laboratory tests and treatment, can lead to recovery of life-threatening infections.

Late-appearing PML/RARalpha fusion transcript with coincidental t(12;13)(p13.2;q14) in acute promyelocytic leukemia lacking the t(15;17) cytogenetic anomaly.

The late appearance of a cytogenetic/molecular hallmark in human leukemias is a rare event. We report on a case of acute myeloid leukemia with morphology, immunophenotype and clinical features typical of promyelocytic subtype (APL), in which the specific PML/RARalpha gene rearrangement was molecularly detected only at second relapse of disease, without cytogenetic evidence of the t(15;17). The emergence of the PML/RARalpha gene may be therapy-related or may represent the exceptional result of a clonal evolution during progression of neoplasia. At second relapse, a novel cell clone bearing a t(12;13)(p13.2;q14) was also observed and a molecular deletion and rearrangement of a locus at 13q14, distinct from retinoblastoma (Rb1) locus, was found. In this unusual case, the PML/RARalpha product seems to be not essential for the expression of the promyelocytic phenotype at diagnosis and, when detectable, it is not the sole genetic defect.

Occurrence of a novel t(11;19)(q13;q13.3) in complete remission of acute promyelocytic leukemia.

A woman with t(15;17) and PML/RAR alpha positive acute promyelocytic leukemia (APL-M3v) achieved a complete remission (CR) with cytogenetic and molecular conversion, after one-month ATRA plus idarubicin treatment. During CR, less than one-month after consolidation therapy with topoisomerase II inhibitors, a novel t(11;19) (q13;q13.3) was detected in peripheral blood stem cells and later in harvest bone marrow cells. Persisting CR and the negativity for BCL1 and PRAD1 genes rearrangement, the autotransplantation was performed, with good outcome. The patient is still in CR eighteen months post-transplant, in spite of the persistence of a small t(11;19) clone in BM cells. The emergence of a novel chromosomal change during CR of acute leukemia is a rare phenomenon. This is the first t(11;19)(q13;q13.3) described in APL. This finding raises the issue of whether the abnormal karyotypes at remission might represent a risk of tumor recurrence. The meaning of this genomic instability is yet unknown.

Chronic myeloid leukemia with thrombocythemic onset may be associated with different BCR/ABL variant transcripts.

Ph-positive chronic myeloid leukemia (CML) mimicking essential thrombocythemia (ET) at onset seems to be a distinct clinical entity. Whether this rare clinical form of CML is associated with single, specific variants of BCR/ABL transcripts is a matter of debate. Among 82 consecutive patients with Ph-positive CML, we identified 3 patients in which the disease mimicked ET at presentation, because of marked thrombocytosis and moderate leukocytosis, with few immature myeloid cells in peripheral blood and blood basophilia in 2 of them. Molecular analysis with the reverse transcriptase-polymerase chain reaction technique showed the presence of b2a2, b3a2, and b3a2-b2a2 transcript variants in the three patients, respectively. The results of our study together with a review of literature data suggest that different BCR/ABL transcript variants may occur in CML mimicking ET, without an apparently significant prevalence of one type.

Hepatitis C virus-induced leuko-thrombocytopenia and haemolysis.

Hepatitis C virus (HCV) has been recognized as the cause of thrombocytopenia occurring in patients with chronic hepatitis C, possibly through autoimmune mechanisms. A patient is described with B cell chronic lymphocytic leukaemia, presenting with a marked leuko-thrombocytopenia and an associated mild haemolysis secondary to HCV infection, in the absence of clinical and biochemical signs of hepatitis. Anti-HCV antibodies were detected in the serum both by ELISA and RIBA but not 2 months before the onset of cytopenia. The presence of HCV RNA was documented both in the peripheral blood mononuclear cells and in the bone marrow by reverse transcriptase polymerase chain reaction of the 5' untranslated region of the viral genome. Of interest, HCV RNA was also found in the serum, showing that viraemia was associated with the presence of circulating anti-HCV antibodies. HCV genotyping, performed by PCR amplification of the core region, revealed the presence of an unclassifiable genotype. The hypothetical mechanisms leading to HCV-induced cytopenia in this patient are briefly discussed. Treatment with corticosteroids was effective in controlling blood cell counts, without increasing viraemia and deterioration of liver disease. HCV infection should be considered in the differential diagnosis of possible causes of cytopenia, mainly in immunosuppressed patients, even in absence of clinical and biochemical signs of hepatitis.