CD43 and CD49d from the B-Cell Chronic Lymphoproliferative Disorders Diagnostic Panel Are Useful to Detect Erythroid Dysplasia.

BACKGROUND: Despite bone marrow (BM) immunophenotyping by flow cytometry has progressively been recognized as an important tool for the diagnosis of myelodysplastic syndromes (MDS), the sparse knowledge about normal erythroid maturation and the lack of markers for erythroid characterization is a major shortcoming. METHODS: Here, we analyzed the expression of CD43 and CD49d, two markers included in the diagnostic panel for B-cell chronic lymphoproliferative disorders (B-CLPD), in the CD34+ compartment of normal BM and along the normal and dysplastic erythroid maturation. For this, 13 normal BM aspirates and 18 BM aspirates from MDS patients were studied by flow cytometry. RESULTS: Normal BM presented a higher expression of CD43 and CD49d among CD34+ erythroid precursors, compared to CD34+ cells committed to the remaining hematopoietic cell lineages. CD43 expression progressively decreased along the normal erythroid maturation, whereas CD49d levels increased from Stage I to Stage II, were maintained in Stages II and III, and then decreased until the last stage of maturation. In MDS, the expression of CD43 and CD49d followed a similar pattern, but with decreased expression levels for both markers, observed in all erythroid maturation stages (P < 0.05). CONCLUSIONS: Our results point to the usefulness of CD43 and CD49d, two markers commonly present in B-CLPD diagnosis panels, in the identification of dysplastic phenotypic features in the erythroid lineage. This allows a feasible and inexpensive way to identify patients who would benefit from a more extensive study to evaluate the presence of MDS, during the processing of suspected B-CLPD samples. © 2019 International Clinical Cytometry Society.

Epidemiological features and disease-related concerns of a large cohort of Italian patients with active Crohn's disease.

BACKGROUND-AIMS: The SOLE study was conducted on a large cohort of Italian patients with moderate-severe Crohn's disease (CD) to assess epidemiological and disease characteristics and their correlation with disease-related worries, treatment satisfaction and adherence, workability. METHODS: The following tools were used over 12 months to assess: Results were correlated with demographic and clinical variables with linear regression models. RESULTS: 552 patients with active CD (51% men) were recruited. Higher worries were having an ostomy bag and undergoing surgery. Variables associated with a higher RFIPC score included female sex, higher disease activity, lower treatment adherence (p < 0.001), previous surgical treatments (p = 0.003). 60% of patients claimed difficulties with activities of daily living. Lower VAS scores were reported by patients with disease duration >6years; treatment satisfaction/adherence was higher with anti-TNF-α treatment. Decreased hospitalizations during follow-up and improved workability/daily activities occurred with adalimumab, infliximab, azathioprine (p < 0.001). CONCLUSION: Worries included having an ostomy bag, undergoing surgery, developing cancer: conditions significantly associated with worsened disease activity and low treatment adherence. Higher treatment adherence scores/greater workability improvements were observed in patients treated with anti-TNF-α agents.

Mid-childhood lung function in a cohort of children with "new bronchopulmonary dysplasia".

OBJECTIVE: Recent advances in perinatal care and neonatal respiratory therapy have led to a new phenotype of bronchopulmonary dysplasia ("new BPD"). The long-term respiratory outcome of this new form of BPD has yet to be adequately described. Aim of this study was to provide longitudinal data on lung function of an unselected cohort of children born extremely premature (EP) with an extremely low birth weight in the post-surfactant era. STUDY DESIGN: Respiratory function was assessed twice (at 8 and 12 years) in 48 children born at a gestational age <28 weeks with a birth weight <1,000 g. Twenty-eight of them had BPD (oxygen-dependency at 36 weeks postmenstrual age) (EP-BPD), and 20 not (EP non-BPD). Twenty-seven children born at term served as control group. RESULTS: The EP-BPD group had significantly lower spirometric values (given as z-scores) than controls, especially in parameters indicating airflow obstruction (8 ys: zFEV1:-1.3 ± 1 vs. 0.5 ± 0.8; 12 ys:-1.6 ± 1 vs. 0.5 ± 0.8, P < 0.001). Despite their better spirometric profile, EP-non-BPD children also had significantly lower parameters than controls (8ys: zFEV1:-0.5 ± 0.8; 12 ys:-0.5 ± 0.9, P < 0.001). During the 4-year follow-up, EP-non-BPD and controls had stable mean z-scores, but EP-BPD had a significant decline in mean zFEV1 (from -1.3 ± 1 to -1.6 ± 1, P = 0.03), zFEV1/FVC (from -0.4 ± 1 to -1.1 ± 1, P = 0.008), and zFEF 25-75% (from -1.2 ± 1 to -1.8 ± 1, P = 0.03). CONCLUSION: EP children born in the post-surfactant era showed a significant airflow limitation, particularly pronounced in BPD subjects who in addition, presented an abnormal airway growth trajectory with a decline in lung function between the ages of 8 and 12 years. Pediatr Pulmonol. 2016;51:1057-1064. © 2016 Wiley Periodicals, Inc.

JAK2V617F allele burden is associated with thrombotic mechanisms activation in polycythemia vera and essential thrombocythemia patients.

The clinical courses of polycythemia vera (PV) and essential thrombocythemia (ET) are characterized by thrombohemorrhagic diathesis. Several groups have suggested an association between JAK2V617F mutation and thrombosis. We hypothesized a relationship between JAK2V617F allele burden, cellular activation parameters, and thrombosis. We evaluated a group of PV and ET patients using flow cytometry: platelet CD62P, CD63, and dense granules, platelet-leukocyte aggregates (PLA), leukocyte CD11b and monocyte tissue factor (TF) expression. All patients had increased baseline platelet CD62P and CD63 expression (p < 0.05); 71 % of PV and 47 % of ET presented with a storage pool disease. Leukocyte CD11b, TF, and PLA were elevated in all patients. TF was higher in PV compared to ET (p < 0.05) and platelet-neutrophil [polymorphonuclear (PMN)] aggregates were increased in ET versus PV (p < 0.05). In ET, PLA were correlated with platelet numbers (p < 0.05). In all patients, JAK2V617F allele burden was directly correlated with monocyte CD11b. Patients with JAK2V617F allele burden >50 % presented higher levels of leukocyte activation. In ET, thrombosis was associated with JAK2V617F mutation (p < 0.05, χ (2) = 5.2), increased monocyte CD11b (p < 0.05) and with platelet-PMN aggregates (p < 0.05). In ET patients, hydroxyurea does not significantly reduce the activation parameters. Our data demonstrate that JAK2V617F allele burden is directly correlated with activation parameters that drive mechanisms that favor thrombosis.

Dandy-Walker malformation masking the molar tooth sign: an illustrative case with magnetic resonance imaging follow-up.

Joubert syndrome is a disorder characterized by ataxia, developmental delay, oculomotor anomalies, and breathing irregularities, with cerebellar vermian and midbrain dysgenesis. The molar tooth sign, reflecting the midbrain dysgenesis of Joubert syndrome, is the neuroradiological hallmark and is an essential sign in the identification of this condition. Variable vermian agenesis, an expanded fourth ventricle, and a large posterior cranial fossa with a normal brainstem are typical of Dandy-Walker malformation. The authors report a case in which a Dandy-Walker malformation coexisted with Joubert syndrome, but initially prevented the ''molar tooth sign'' from being recognized because of an important cystic dilatation of the fourth ventricle. In this article, they discuss the importance of the re-examination of brain magnetic resonance features after decompression of the posterior cranial fossa in a patient with Dandy-Walker malformation and additional clinical neurological or systemic abnormalities typical of Joubert syndrome, to not miss the correct diagnosis.