POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome.

Segmental progeroid syndromes are rare, heterogeneous disorders characterized by signs of premature aging affecting more than one tissue or organ. A prototypic example is the Werner syndrome (WS), caused by biallelic germline mutations in the Werner helicase gene (WRN). While heterozygous lamin A/C (LMNA) mutations are found in a few nonclassical cases of WS, another 10%-15% of patients initially diagnosed with WS do not have mutations in WRN or LMNA.

Accuracy of computed tomography angiography in the detection of pulmonary embolism in patients with high body weight.

Background: The accuracy of CT pulmonary angiography (CTPA) in detecting or excluding pulmonary embolism has not yet been assessed in patients with high body weight (BW).

Methods: This retrospective study involved CTPAs of 114 patients weighing 75-99 kg and those of 123 consecutive patients weighing 100-150 kg. Three independent blinded radiologists analyzed all examinations in randomized order.

[Deletion 15q26 syndrome].

The association of short stature, microcephaly, congenital cardiac anomaly and intellectual deficit should always raise the suspicion of chromosomal etiology. If G-banded karyotyping fails to detect large chromosomal aberrations, array comparative genomic hybridization (array CGH) should be performed to screen for submicroscopic pathological copy number changes. The authors present a six-year-old girl whose symptoms arose from a 4.

Immunological and clinical effects of alphacalcidol in patients with psoriatic arthropathy: results of an open, follow-up pilot study.

The aim of this study was to describe the effect of systemic alphacalcidol (1 OH vitamin D3) treatment on clinical and immunological parameters in patients with psoriatic arthropathy. Among the 19 patients investigated, 10 were treated with 0.25 microg oral alphacalcidol twice daily for 6 months, while 9 other patients served as controls.

[Results of mammographic screening at the Mammary Center of Debrecen in 1999 and 2000].

Introduction: The screening mammography decreases the mortality of female breast cancer.

Methods: A complex, independent centre of screening mammography has been operating in Debrecen since 1999.

Results: The number of the examinations were 10,399 in 1999 and 13,800 in 2000.