Autoimmune and Inflammatory Manifestations in 247 Patients with Primary Immunodeficiency—a Report from the Slovenian National Registry

An abnormal regulation of immune responses leads to autoimmune and inflammatory manifestations in patients with primary immunodeficiencies (PIDs). The objective of our study was to evaluate the frequency of non-infectious and non-malignant manifestations in a large cohort of patients included in the Slovenian national PID registry and to assess the time of manifestation onset with respect to the time of PID diagnosis. Medical records of registered patients were reviewed. Data on autoimmunity, lymphoproliferation, autoinflammation, allergies, PID diagnosis, and underlying genetic defects were collected and analyzed. The time of each manifestation onset was determined and compared with the time of PID diagnosis. As of May 2015, 247 patients with 50 different PIDs were registered in the Slovenian national PID registry (147 males, 100 females; mean age 20 years). Mean disease duration was 14 years; 78 % of patients were younger than 18 years; and 22 % of patients were adults. Diagnosis of PID was genetically confirmed in 51 % of patients. Non-infectious and non-malignant manifestations were present in 69/235 (29 %) patients, including autoimmune manifestations in 52/235 (22 %), lymphoproliferative/granulomatous in 28/235 (12 %), autoinflammatory in 12/247 (5 %), and allergic manifestations in 10/235 (4 %) of all registered patients. Autoimmune manifestations were present in all patients whose PIDs were classified as diseases of immune dysregulation, 47 % of patients with chronic granulomatous disease, and 38 % of patients with predominantly antibody immune deficiencies. A high prevalence of non-infectious and non-malignant manifestations among patients in the Slovenian national PID registry suggests common genetic factors of autoimmunity, inflammation, and immunodeficiency. Patients with PID should be routinely screened for autoimmune and inflammatory manifestations at the time of PID diagnosis and during the long-term follow up.     

A posterior versus anterior surgical approach in combination with debridement,interbody autografting and instrumentation for thoracic and lumbar tuberculosis

Purpose  

The purpose of this study was to compare posterior and anterior surgical approach in combination with debridement, interbody autografting and instrumentation for thoracic and lumbar tuberculosis. These approaches were compared in terms of the operation duration, intraoperative blood loss, bony fusion, intraoperative and postoperative complications, neurological status and the angle of kyphosis.     

Population preventable fraction of bicycle related head injuries

OBJECTIVE: This study analyzes the population attributable fraction (PAF) of bicycle head injuries due to non-helmet use. METHODS: The concept of the PAF and Levin's formula for its calculation were used to develop mathematical models for estimation of: (i) attributable fraction of bicycle related head injuries in the population due to non-helmet use, (ii) expected proportion of helmeted cases among all head injuries, and (iii) estimate of the helmet use rate in the population based on patient case information. The PAF was calculated for a sample of injuries from Stavanger, Norway. RESULTS: Levin's formula was used to calculate the PAF. Two additional mathematical models were developed for calculating the expected proportion of helmeted cases and the estimation of the helmet use rate in the population. The P calculation examples for all models were is shown. It was estimated that 133 out of 210 injuries could have been avoided in Stavanger between 1990 and 1996 if all children aged 0-14 had used helmets. CONCLUSIONS: If applied correctly, the PAF is a valid and useful indicator for the population effects of bicycle helmets. The models developed in this study may help to better interpret and predict the population effects of helmet promotion interventions.     

Importance of anticoagulant concentration for the activation of some human blood clotting factors

The effects of varying concentrations of decalcifying salts and of type of surfaces on clotting tests of plasma were studied. The results indicated that plasma obtained with 0.025 M sodium oxalate, 1 part to 9 parts of blood stored either at 3 °C or at room temperature, no matter if in glass or in siliconed tubes, always shortened its prothrombin time. Similar results in samples drawn with 0.125 M sodium citrate, and stored either in glass or in siliconed tubes were obtained, but with a very weak effect. No activation either of prothrombin or of Factor V or of Factor X was observed.

Activation of Factor VII would explain the shortening of the prothombin time.

A reacting system that uses a very small amount of calcium, and that activates Factor VII appeared responsible for that effect.