Phosphotyrosine phosphatase activity and haematologic changes in Down's syndrome patients

Abstract

Assays of neutrophil phosphotyrosine phosphatase activity and determination of haematological parameters were performed on 12 trisomic 21 probands without any clinical or biological symptom of other evolutive disease. Haematological studies showed the two main classical abnormalities: the existence of a macrocytosis and an enhanced lymphocyte count. Of interest are the very reduced rates of phosphotyrosine phosphatase activity found in granulocytes from these patients. This defect in protein phosphatase can be considered as an additional enzymatic change extending the list of modified factors recognized at molecular and cellular levels in subjects whose risk of leukaemia is significantly increased.

Co‐occurring medical conditions in adults with Down syndrome: A systematic review toward the development of health care guidelines. Part II

“…Of the six articles reviewed, two used a case–control design (II‐2) (Akin 1988; Vergnes et al 1992), three were cohort studies (II‐2) (McLean et al 2009; Shabayek 2004; Wachtel and Pueschel 1991) and one was a case series (III) (Real de Asua et al 2015). From the case–control studies, one used participants with intellectual disability at the same educational facility as controls (Akin 1988) while another used an unspecified control group (Vergnes et al 1992). The cumulative number of participants with DS was small ( N = 330) who were ascertained from outpatient clinics (44%), educational facilities (32%), a hospital (18%), and a hematology service (3%).…”

“…Four studies included prospective laboratory evaluation (Akin 1988; Shabayek 2004; Vergnes et al 1992; Wachtel and Pueschel 1991) while two were retrospective (McLean et al 2009; Real de Asua et al 2015). Laboratory evaluations included hemoglobin values (Shabayek 2004), complete blood count (CBC) and related investigations in some studies such as serum vitamin B12 or folate levels (Akin 1988; Real de Asua et al 2015; Wachtel and Pueschel 1991), iron studies (Wachtel and Pueschel 1991), TSH, freeT4, lipid profile, uric acid, and 25‐OH‐vitamin D levels (Real de Asua et al 2015).…”

“…Akin (Akin 1988) Wachtel (Wachtel and Pueschel 1991) Vergnes (Vergnes et al 1992) McLean ( include pain and functional limitations. In the general population, the majority of hip replacements occur in patients older than 65 years, and the need for surgical revision is between 10 and 15% in 10-20 years (Crawford and Murray 1997).…”

“…Four studies included prospective laboratory evaluation (Akin 1988;Shabayek 2004;Vergnes et al 1992 The frequency of anemia in DS adults as reported in two different studies are quite discrepant at two of 61 (3%) (Wachtel and Pueschel 1991) and 76 of 89 (85%) (Shabayek 2004). These two studies differed in location, population, age of individuals sampled and normative laboratory cut-off values.…”