Effect of late prophylaxis in hemophilia on joint status: a randomized trial

Essentials

• High‐quality data are lacking on use of prophylaxis in adults with hemophilia and arthropathy.
• SPINART was a 3‐year randomized clinical trial of late/tertiary prophylaxis vs on‐demand therapy.
• Prophylaxis improved function, quality of life, activity and pain but not joint structure by MRI.
• Prophylaxis improves function but must start before joint bleeding onset to prevent arthropathy.

     

Orthotopic liver transplantation from a living-related donor in an infant with a peroxisome biogenesis defect of the infantile Refsum disease type

Summary Peroxisomal biogenesis defects include a number of severe neurodevelopmental disorders, among which infantile Refsum disease (IRD) occupies the mildest end of the spectrum. Although high docosahexaenoic acid (DHA) and low phytanic acid diets can correct some of the biochemical defects, they have not consistently altered the progressive course of the disease. We carried out orthotopic liver transplantation (OLT) in a mildly symptomatic 6-month-old infant who was a sibling of a severely neurologically impaired older sister. After transplantation the clinical course of this young child appeared much improved by comparison to her older sister. She walked alone at 4 years, had acceptable social interaction and had a noticeable recovery of audition. After transplantation her biochemical parameters were significantly improved: phytanic acid and very long-chain fatty acid (VLCFA) serum concentrations decreased. Abnormal bile acids disappeared from plasma. Although the OLT did not result in a cure of the disorder, the clinical and biochemical results suggest that OLT should be considered in mildly symptomatic patients.     

Long-term complications of immunosuppression in pediatric liver recipients

Liver transplantation (LT) today constitutes a well-standardized and efficient therapy for children with acute and chronic hepatic failure. Appropriate pre-transplant management, organ preservation, adequate surgical techniques, and the progressive introduction of new immunosuppressive regimens have contributed to significantly improve, over the years, the general outcome after LT. Consequently, these good overall results has allowed the constitution of a growing cohort of children, adolescents and young adults submitted to chronic immunosuppression. The long-term complications of immunosuppression administered to transplant recipients include the adverse effects secondary to the depression of the immune system, the toxicities specifically related to the individual immunosuppressive drugs, and the sense of lack of rehabilitation for the transplant patient, with, secondarily, the question of non-adherence to the medications. This review will essentially focus on these three issues in the particular context of pediatric liver transplantation.     

Influenza A virus infection and cardiac arrhythmia during the neonatal period

Influenza virus infection during pregnancy increases the risk of spontaneous abortion, preterm contractions, fetal compromise and early neonatal mortality. We describe a case of fetal and neonatal cardiac arrhythmia coinciding with an influenza A virus infection. Viral RNA was detected in the neonate's nasopharyngeal secretions and also in its serum, indicating influenza viremia. The cardiac arrhythmia resolved spontaneously without antiarrhythmic treatment.     

Clinical pharmacokinetics of Neoral in pediatric recipients of primary liver transplants

Pediatric liver transplant recipients constitute a population characterized by a particularly unpredictable and poor bioavailability of cyclosporin (CyA). Even though several adult studies show that the new oral formulation of CyA, Neoral (NEO), produces better bioavailability and blood level predictability, few data describe its pharmacokinetics in children. We performed a complete analysis of the pharmacokinetics of NEO in ten small children after primary liver transplantation. Three pharmacokinetic profiles were set up with data obtained from tests taken during i. v. administration of CyA, after the first oral NEO dose, and after the last NEO dose before discharge from the hospital. The mean half-lives obtained were 8.1, 7.7, and 6.9 h, respectively, and the bioavailabilities were 22 % and 21 % for the first and last NEO doses. A large interpatient variability was observed. This was due, in part, to episodes of diarrhea that interfered with the pharmacokinetic evaluation and, in part, to the variability of post-transplant hepatic function. There was a good correlation between CyA trough levels and their related AUCs for both NEO profiles (r = 0.93 and r = 0.74, respectively). We conclude that, even though the pediatric OLT population remains more unpredictable than that of adults, NEO has a relatively rapid half-life and a remarkably improved bioavailability. Received: 29 November 1996 Received after revision: 10 April 1997 Accepted: 15 May 1997     

Myocardial bridging. The role of microcirculation, coronary reserve and systolic endothelial injury]

BACKGROUND: The relationship between myocardial bridging (MB) and ischemic heart disease is still controversial. However, a recent new evidence suggests that this relation is not by chance. PURPOSE: The purpose of our study was to review in a critical manner, the evidence for the relationship between MB and myocardial ischemia and its possible consequences. METHODS: We present 2 cases of our series and review the medical literature from January 1966 to January 1998 published and included in Medline and Current Contents. RESULTS AND CONCLUSIONS: The principal findings after this review were: 1) MB is not a normal variant; 2) The clinical impact of MB depends on its anatomical extension and degree of compressive effect; 3) The MB muscle is not similar to myocytes from other cardiac areas; 4) The environment surrounding coronary artery may be a crucial factor in determining whether the MB influences the induction of heart disorders or not; 5) The overshoot due to compressive effect on coronary artery might determine endothelial injury in the microcirculation post-MB; 6) In some cases, the systolic endothelial injury may contribute to release factors that are able to reduce the coronary reserve, resulting in myocardial ischemia; 7) The possible role of PTCA in this disorder still has to be proven. Surgical treatment should be considered when important myocardial ischemia had been demonstrated, even in those asymptomatic cases.