Genetics in multiple sclerosis: past and future perspectives

The enormous development in the field of molecular genetics during the last decades has lead to optimism concerning the possibilities for identifying the causes of multiple sclerosis (MS) through genetic studies. However, we have learned that dense mapping of large sample sets is needed, which only can be achieved through large collaborative studies. The contribution from each yet unidentified gene is probably weaker than that of the well established human leukocyte antigen association. The ultimate goal of the search for susceptibility genes in MS is to develop diagnostic tools and better treatments that can prevent or reduce the development of symptoms of this often devastating disease.     

Reactive arthritis and internal derangement of the temporomandibular joint.

OBJECTIVE: The objective of this study was to determine if temporomandibular joint (TMJ) samples positive for Chlamydia trachomatis have a greater presence of tumor necrosis factor-alpha (TNFalpha) or interleukin-6 (IL-6) when compared with Chlamydia-negative samples. STUDY DESIGN: Posterior bilaminar tissue samples removed during TMJ surgery from 70 patients were evaluated. Cryosections were stained using monoclonal antibody that identifies C. trachomatis. The presence of IL-6 and TNFalpha were evaluated by immunostaining in 15 samples positive and in 25 samples negative for the presence of C. trachomatis. RESULTS: Of the 70 TMJ samples, 32 (46%) were positive for C. trachomatis. In 15 samples positive for C. trachomatis, 10 (67%) were positive for TNFalpha and 7 (47%) for IL-6. In 25 samples negative for C. trachomatis, only 4 (16%) were positive for TNFalpha and only 2 (8%) for IL-6. Differences in C. trachomatis-positive samples versus negative were significant for both TNFalpha (P < .002) and IL-6 (P < .008). CONCLUSION: The presence of C. trachomatis in the TMJ is associated with a significantly increased presence of TNFalpha and IL-6.     

Die Behandlung von Sehnenverletzungen an der Hand

Tendon injuries of the hand, especially flexor tendon injuries, should be treated by specially trained surgeons. Tendon injuries should be treated immediately to avoid joint stiffness or tendon adhesions, which arise predominantly at the tendon laceration. In addition to a professional operation, postoperative management is also important. As with surgery, specially trained physiotherapists should supervise the active or passive mobilization after tendon repair. A close cooperation between physiotherapist and physician is mandatory for an optimal result.     

Mittelhandfrakturen

Isolated fractures of the metacarpal and phalangeal bones are common injuries of the upper extremities. They usually occur at the age of 10–40, whereas the highest incidence is observed in childhood. The results of treatment have an important impact for the practical value of the hand. This article aims to give a brief overview of the different fracture types and their treatment options.     

Acute diverticulitis – clinical presentation and differential diagnostics

Objective To describe the clinical presentation of acute diverticulitis in an emergency department and to characterize the natural history of diverticulitis in the short perspective. Comparisons are made with an important differential diagnosis, nonspecific abdominal pain (NSAP). Method Patients admitted to our hospital with abdominal pain of up to 7 days’ duration were registered prospectively using a detailed schedule for history, symptoms and signs, from 1 February 1997 to 1 June 2000. Of 3349 patients initially included, 3073 (92%) were eligible for follow up after 1–3 years. Results Acute diverticulitis was the final diagnosis in 145 patients and NSAP in 1142 patients. The incidence of hospitalized patients with diverticulitis was 47 per year and 100 000 population, with a mean hospital stay of 3.3 days. Patients with diverticulitis, more frequently than NSAP, had a longer history and laboratory signs of inflammatory activity. Isolated left abdominal tenderness was more common in diverticulitis, whereas isolated right abdominal tenderness was more common in NSAP. Duration of symptoms on arrival was independent of age and was not correlated to C‐reactive protein, leucocytes or body temperature. Sensitivity of diverticulitis as primary diagnosis was 64% and specificity 97%. Corresponding figures for NSAP were 43% and 90% respectively. Age and gender did not influence diagnostic accuracy or risk of surgery. Conclusion Diverticulitis differs significantly from NSAP in clinical presentation and laboratory parameters. Sensitivity of primary diagnosis for diverticulitis and NSAP was low.     

Kidney Transplantation in Patients with Antibodies against Donor HLA Class II

The immunologic risk associated with donor-specific antibodies (DSA) against Class II human leukocyte antigens (HLA) in kidney transplant (KTx) recipients is unclear. The aim of this study was to determine the outcome of KTx when DSA was detected only against HLA Class II. To isolate the impact of anti-Class II DSA, we retrospectively analyzed 12 KTx recipients who at baseline had a positive B-cell flow cytometric crossmatch (FXM) and a negative T-cell FXM. Using alloantibody specification analysis, 58.3% (7/12) had DSA against donor Class II and 41.7% had no demonstrable DSA. Biopsy-proven AMR occurred in 57% (4/7) in the Class II(+) group and 0% in the Class II(-) group (p > 0.05). Peritubular capillaries stained positive for C4d in 86% (6/7) of the Class II(+) patients and in 40% (2/5) of the Class II(-) patients (p > 0.05). One patient in the Class II(+) group lost their graft at 3 months to accelerated transplant glomerulopathy, while all other grafts were functioning 3-37 months posttransplant despite the persistence of anti-Class II DSA. We conclude that KTx recipients with clearly defined anti-Class II DSA are at risk for humoral rejection suggesting that desensitization and/or close posttransplant monitoring may be needed to prevent AMR.     

Haemoglobin level and its clinical impact in a cohort of patients with COPD.

Haemoglobin (Hb) abnormalities in chronic obstructive pulmonary disease (COPD) are not well characterised. The present authors investigated the prevalence and association of abnormal Hb with clinical outcomes. Analysis of a prospective cohort of stable COPD outpatients (n = 683) in a USA Veterans Administration pulmonary clinic was undertaken. Patients were classified as anaemic (Hb <13 g.dL(-1)), polycythemic (Hb > or =17 g.dL(-1) and > or =15 g.dL(-1) for males and females, respectively) or normal. Demographic characteristics and physiological/functional outcomes were compared between groups. Regression models adjusting for confounders examined the independent association of anaemia with clinical outcomes. Anaemia was present in 116 (17%) patients and polycythemia in 40 (6%). While the only values that differed between polycythemic and nonpolycythemic patients were mean body mass index and Hb, anaemic patients showed a significantly higher modified Medical Research Council dyspnoea scale score (2.8 versus 2.6), lower 6-min walk distance (265 versus 325 m) and shorter median survival (49 versus 74 months) than nonanaemic patients. In regression models, anaemia independently predicted dyspnoea and reduced exercise capacity. Anaemia in chronic obstructive pulmonary disease was an independent risk factor for reduced functional capacity. Polycythemia prevalence was low and had no association with worsened outcomes. Further work is required to evaluate the effect of anaemia correction on outcomes in chronic obstructive pulmonary disease.