PubMed Health⌕ Search

Biomedical subjects

H Church

Publications and source records attributed to H Church.

5 recordsLinked to original sources
PubMed2007

Biochemical monitoring after haemopoietic stem cell transplant for Hurler syndrome (MPSIH): implications for functional outcome after transplant in metabolic disease.

Hurler Syndrome is corrected by allogeneic BMT by the action of donor enzyme on recipient tissue. In this paper, we describe monitoring of 39 patients transplanted in two centres to determine donor chimerism, enzyme level and residual substrate - expressed as dermatan sulphate to chondroitin sulphate ratio. We show that in fully engrafted recipients, the enzyme level, expressed as mumol/g total protein/h, post-transplant is 24.2 from an unrelated donor and 10.2 from a heterozygote family donor (P<0.0001). There is a tight relationship between mean post-transplant enzyme level and residual substrate - Spearman's rank correlation coefficient (Rho) was -0.76 and -0.80 at 12 and 24 months, respectively (P<0.0001). We propose that these differences affect patient outcome. As unrelated donor transplant outcomes improve and especially given the higher levels of donor cell engraftment following cord transplants, our data might influence donor selection where only heterozygote-matched family members are available.

Chimerism↗
PubMed2002

Niemann-Pick disease type C in adults.

Although it is often perceived as a paediatric disorder, significant numbers of patients with Niemann-Pick disease type C present for the first time in adult life or survive into adult life. The presentation in these patients differs from that seen in the classical juvenile form of the disease. Adult patients are often referred to clinicians with psychosis or other major psychiatric problems. The dystonia with preserved intellectual functioning can be mistaken for other basal ganglia disorders such as Wilson disease. The presence of vertical gaze palsy is an important clinical clue and, in the presence of a modest increase in plasma chitotriosidase activity, can be very helpful in the differential diagnosis. The diagnosis should be confirmed in suspected cases by filipin staining of cultured fibroblasts, as well as cholesterol esterification studies and DNA mutation analysis.

Adolescent↗
PubMed1989

Thyroid function tests in elderly patients with and without an acute illness.

Thyroid function was assessed by measurement of free thyroid hormones and thyrotrophin (TSH) in 78 acutely ill elderly patients and in a control group without acute illness. Abnormal results with any test were more frequently found in the acutely ill group than in controls. In particular, abnormal TSH values were found in 40% of the acutely ill group and in only 8% of controls (p less than 0.001). Seven acutely ill subjects had very low TSH levels (less than 0.04 mU/l) and a blunted response to thyroid-releasing hormone (TRH). With few exceptions these abnormalities could not be attributed to thyroid disease. This suggests that pituitary TSH secretion can be impaired in euthyroid sick old people. High sensitivity TSH assays may therefore be inappropriate as first-line tests of thyroid function, at least in this select group.

Acute Disease↗
PubMed1978

The relationship between the dose of dentogingival plaque and the in vitro lymphoproliferative response in subjects with periodontal disease.

The in vitro lymphoblastic response to autologous dentogingival plaque (DGP) extract at nine concentrations was measured in 28 individuals (Periodontal Index [Russell 1956] 0.8-7.4). Significantly elevated responses were obtained in 25 of the patients but the levels of the peak responses were unrelated to the severity of the diseases. There was a significant (n = 28, r = -.734) negative linear relationship between the PI of the individuals studied and the logarithmic concentration of DGP producing the peak lymphoblastic response. Lower concentrations of DGP extract would appear to be required to achieve peak responses in patients with severe periodontal disease.

Adolescent↗