Challenges of caring for a patient with a rare disease--as demonstrated by Cornelia de Lange Syndrome.

There are over 12,500 diseases defined by European researchers as rare disorders occurring in less than 1:2000 live births. The majority of these manifest in childhood. The clinical picture of a rare disorder is dominated by intellectual disability of various severity and organ defects.

[Karyometric evaluations of the seminal tubule cells in men with azoospermia].

Objectives: The aim of the study is to confirm that karyometric evaluations of the seminal tubule cells in men with azoospermia indicate stimulating influence of the Leydig cell and testosterone on the functions of Sertoli cells, whereas serum LH concentration may in fact lead to regressive changes in the wall of the seminal tubule.

Material And Methods: Material consists of 75 patients with azoospermia and hypospermatogenesis. In all patients surgical biopsy of the testes was done, prior to an assessment of serum LH and testosterone levels.

[Prognostic factors of celiac disease occurrence in type 1 diabetes mellitus children].

Introduction: Discussion on the frequency of coexistent celiac disease and type 1 diabetes mellitus (DM1) as well as an attempt to standardize diagnostic methods of celiac disease detection among DM1 children have been performed.

Objectives: To assess the incidence of celiac disease among DM1 children in the Pomeranian region of Poland followed by analysis of the putative prognostic factors for celiac disease development in this particular group of children.

Materials And Methods: 70 children aged 9.

[Metacarpal fractures--treatment results].

In the study we presented the results of treatment of 126 fractures in patients hospitalized between 1994-2003 in the Department of Orthopeadics. The assesment was based on 87 patients that presented for the study, including 62 male and 25 female patients in the 14-57 age. The treatment consisted of stationary reduction combined with cast fixation and stabilization with Kirschner wire.