Intrafamilial phenotype variation in Friedreich's disease: possible exceptions to diagnostic criteria

Summary Three families are described which include members with typical Friedreich's disease (FD) and others who are ataxic but do not satisfy all the diagnostic criteria for that disease. In family A two patients have an early-onset, rapidly progressive FD, while two others have a late-onset, more benign form. In families B and C one member has typical FD, and another has a similar ataxic syndrome, except for preservation of knee jerks. Laboratory evaluation is consistent with the diagnosis of FD in all cases. FD diagnosis appears justified in secondary cases with late onset or preserved tendon reflexes, provided that the index case fulfils all diagnostic criteria. Whether the diagnosis of FD is tenable in sporadic atypical cases remains to be seen. Echocardiographic and neurophysiological examination may be valuable in classifying such cases.     

Effects of hyaluronan on free-radical formation, corneal endothelium damage, and inflammation parameters after phacoemulsification in rabbits.

Free-radical formation may play a role in postoperative complications of phacoemulsification (e.g., corneal endothelium damage from mechanical injury). The present experiments were aimed at investigating whether different molecular weight ranges (2000-2600, 2600-3200, or 3200-3800 kDa) of hyaluronan may influence free radical formation, corneal endothelium damage, and inflammation parameters after phacoemulsification in the rabbit eye. The viscoelastic substance was injected in the anterior chamber of rabbits' eyes before phacoemulsification, at a 2.5% concentration. The formation of free radicals was determined by adding luminol to the irrigation media and measuring the chemoluminescence in eyes. The corneal endothelial damage was evaluated by measuring the corneal central thickness by pachimetry. The inflammation parameters were measured by calculation in aqueous humor of peak levels of leukocytes and prostaglandin E(2) (PGE(2)) and evaluation in uveal tissue of myeloperoxidase activity. Hyaluronan decreased by about 58-60% free-radical formation during phacoemulsification, reduced by about 76-80% modifications in mean corneal thickness and by about 54-61% the corneal endothelial cell loss in all molecular weight ranges used. No difference was found among various molecular weight ranges. The highest molecular weight range showed to be more potent than the lowest range for reduced number of inflammation cells and level of PGE(2) in aqueous humor. Thus, hyaluronan reduces free-radical formation, exerts protection on the corneal endothelium and exerts anti-inflammation properties after phacoemulsification in rabbits. The latter effect seems to depend on the molecular weight of the substance.     

Breast-feeding in a woman with cystic fibrosis undergoing antibiotic intravenous treatment.

We report the case of a 30-year-old woman with cystic fibrosis (CF) chronically infected with Pseudomonas aeruginosa who delivered and breast-fed a healthy boy. While breast-feeding the woman had to undergo an i.v. antibiotic course with tobramycin, due to pulmonary exacerbation. Tobramycin was not detected in her milk and lactation could be continued. This is the first time that the presence of tobramycin in the milk of a CF woman during i.v. administration has been investigated.     

Sport activities and exercise as part of routine cancer care in children and adolescents

The burden of morbidities affecting cardiovascular and musculoskeletal systems, metabolism, and psychosocial health in young patients with cancer is high. It is alarming that patients and survivors of childhood cancer are less physically active than their healthy peers, since exercise may improve many of these conditions significantly and is associated with reduction in all‐cause mortality in the general population. Systematic integration of exercise programing into cancer care remains an exception, above all in children. Pediatric oncologists may contribute to a culture shift towards educating patients and stakeholders on the benefit of exercise and sports for children and adolescents with cancer.     

Improving outcomes of acute myocarditis in children

Acute viral myocarditis may impair prognosis in children of all ages. Its true incidence is underestimated because of heterogeneity of presentation and outcome. Patients may either recover or progress to chronic cardiomyopathy or death. Improving short-term and long-term prognosis is challenging but can probably be achieved by new diagnostic techniques and novel targeted therapies. The objectives of this review are: (1) to detail the current state of knowledge of the pathophysiological mechanisms of acute myocarditis; (2) to provide an update on diagnostic tools such as magnetic resonance imaging and endomyocardial biopsy; and (3) to present new insights in therapeutic strategies, targeted therapies and management of fulminant cases. Options for improving outcomes in acute myocarditis in the pediatric population are discussed.     

Systematic review of minimally invasive ablation treatment for locally advanced pancreatic cancer

Unresectable locally advanced pancreatic cancer with or without metastatic disease is associated with a very poor prognosis. Ablation techniques are based on direct application of chemical, thermal, or electrical energy to a tumor, which leads to cellular necrosis. Initial studies about ablation therapies of the pancreas were associated with significant morbidity and mortality, which limited widespread adoption. Modifications to the various applications, in particular combining the techniques with high-quality imaging and intra-operative approach has enabled real-time treatment monitoring and significant improvements in safety. Inoperable cases of pancreatic cancer have been treated by various ablation techniques in the last few years with promising results. The purpose of this review is to present the current status of local ablative therapies in the treatment of pancreatic advanced tumor.     

Acitretin‐Responsive Ichthyosis in Chanarin–Dorfman Syndrome with a Novel Mutation in the ABHD5/CGI‐58 Gene

Chanarin–Dorfman syndrome (CDS) is a rare nonlysosomal neutral lipid storage disorder characterized by congenital ichthyosis, lipid vacuoles in leukocytes (Jordan's anomaly), and hepatomegaly. The authors herein report an 18‐month‐old boy with ichthyosis and hepatomegaly diagnosed with CDS and confirmed to have a novel c.506–3C>G mutation in the ABHD5/CGI‐58 gene. Our case also illustrates that retinoids such as acitretin could be useful in the treatment of skin manifestations in CDS even in the presence of liver derangement.