Leukemias associated with Turner syndrome: report of three cases and review of the literature.

Cases of leukemia associated with Turner syndrome (TS) are rare. Here we report three TS patients with leukemia including one case of T-large granular lymphocyte leukemia (T-LGL), one rare case of coexistence of chronic lymphocytic leukemia (CLL) and idiopathic myelofibrosis (IMF) and one case of a patient with AML-M2 who received autologous stem cell transplantation (SCT). T-LGL and coexistence of CLL and IMF associated with TS are reported for the first time while the last case represents the first report of SCT in a leukemia patient with TS. Our cases and the limited data of previously reported leukemia patients with TS suggest that TS is not associated with a specific type of leukemia and that presentation, clinical course and response to treatment are similar to that of the non-TS leukemia patients. However, these patients may have a higher risk of liver complications. Interestingly, in the mosaic TS patients, the abnormal clones were restricted to the monosomic 45,X cells, indicating that the leukemic clones possibly originate from the monosomic cell line. Even in cases with no additional chromosome abnormalities, the ratio of X/XX cells in bone marrow cells was significantly increased compared to that in constitutional karyotype, indicating that monosomic cells possibly provide a survival advantage for leukemia cells or that reduced programmed cell death may be responsible for the expansion of the monosomic cells.

Relative contributions of the ribcage and abdomen to lung volume displacement during speech production.

We tested the hypothesis that the pattern of chest wall configuration during speech production correlates with the pattern of chest wall motion during resting breathing. Twenty-one men (age 40 +/- 8 years) with ankylosing spondylitis and varied degrees of ribcage involvement participated in the study. None of the patients had an obvious speech abnormality. Ribcage and abdominal displacements during quiet breathing and during reading were measured with a respiratory plethysmograph. Measurements were taken in the sitting and standing body positions. In each body position, ribcage or abdominal displacements during quiet breathing correlated with the corresponding chest wall displacements recorded during reading (P < 0.001). In addition, linear regression analysis showed that the slope of the chest wall motion loop during quiet breathing correlated with the ratio of ribcage to abdomen contribution to lung volume displacement during reading (r = 0.78, P < 0.001 for sitting and r = 0.64, P = 0.002 for standing position). The slopes of the regression lines did not differ between the sitting and standing body position (P > 0.05). We conclude that the relative contribution of the ribcage and abdomen to lung volume displacement during speech production correlates with the relative ribcage and abdomen contribution to tidal volume during quiet breathing; our data support the notion that the pattern of chest wall configuration during quiet breathing largely predicts the pattern of ribcage and abdomen displacement during speech.

Chest wall motion during speech production in patients with advanced ankylosing spondylitis.

PURPOSE: To test the hypothesis that ankylosing spondylitis (AS) alters the pattern of chest wall motion during speech production. METHOD: The pattern of chest wall motion during speech was measured with respiratory inductive plethysmography in 6 participants with advanced AS (5 men, 1 woman, age 45+/-8 years, Schober test 1.45+/-1.5 cm, Bath Ankylosing Spondylitis Functional Index [BASFI] score 6+/-1.7) and 6 healthy volunteers, matched for age and gender. Measurements were made with participants in the upright seated and upright standing body position. RESULTS: During reading in the seated and standing body positions, the rib cage wall volume displacements were smaller and abdominal wall volume displacements were larger in participants with AS than in healthy controls. There were no differences in the overall lung volume displacements recorded during the expiratory limb of reading in either body position. In the participants with AS, the rib cage remained near the end-expiratory level in both the seated and standing body position, differing from that for the control group. CONCLUSION: In individuals with advanced AS, the abdomen is the primary contributor to volume displacement. In the absence of speech impairment in participants with AS, the data show the capacity of the abdomen to compensate for the decreased compliance of the rib cage.