Malnutrition in Pediatric Chronic Cholestatic Disease: An Up-to-Date Overview.

Despite recent advances, the causes of and effective therapies for pediatric chronic cholestatic diseases remain elusive, and many patients progress to liver failure and need liver transplantation. Malnutrition is a common complication in these patients and is a well-recognized, tremendous challenge for the clinician. We undertook a narrative review of both recent and relevant older literature, published during the last 20 years, for studies linking nutrition to pediatric chronic cholestasis. The collected data confirm that malnutrition and failure to thrive are associated with increased risks of morbidity and mortality, and they also affect the outcomes of liver transplantation, including long-term survival. Malnutrition in children with chronic liver disease is multifactorial and with multiple potential nutritional deficiencies. To improve life expectancy and the quality of life, patients require careful assessments and appropriate management of their nutritional statuses by multidisciplinary teams, which can identify and/or prevent specific deficiencies and initiate appropriate interventions. Solutions available for the clinical management of these children in general, as well as those directed to specific etiologies, are summarized. We particularly focus on fat-soluble vitamin deficiency and malnutrition due to fat malabsorption. Supplemental feeding, including medium-chain triglycerides, essential fatty acids, branched-chain amino acids, and the extra calories needed to overcome the consequences of anorexia and high energy requirements, is reviewed. Future studies should address the need for further improving commercially available and nutritionally complete infant milk formulae for the dietary management of this fragile category of patients. The aid of a specialist dietitian, educational training regarding nutritional guidelines for stakeholders, and improving family nutritional health literacy appear essential.

Do isolates from pharyngeal and rectal swabs match blood culture bacterial pathogens in septic VLBW infants? A pilot, cross-sectional study.

Serial body site swabbing is used to monitor horizontal spread of aggressive bacterial species in the neonatal intensive care unit (NICU). Since colonization/carriage is thought to precede systemic infection, one might expect to retrieve colonizing pathogens from blood cultures. This hypothesis, however, has not been fully investigated in very low birth weight (VLBW) infants that are at high sepsis' risk. The primary outcome was, in a population of VLBW infants with late-onset sepsis, the matching between blood culture results and pathogens isolated from rectal and nose/pharyngeal surveillance swabs in the preceding 2 weeks. The secondary outcomes were the site of swabbing and time interval from colonization to blood culture positivity. Out of 333 VLBW neonates, 80 (24%) were diagnosed with bacterial sepsis. In 46 (57%) neonates, the blood culture showed the same pathogen species cultured from a swab. Of these, 30 were isolated from infants with both body sites colonized with an average time interval of 3.5 days; 2/16 were isolated from rectal swabs and 14 /16 from nose/pharyngeal samples.Conclusion: Our data show a fair correspondence between bacteria colonizing the nasopharynx and/or the rectum and pathogens later isolated from blood cultures. This association depends on the swabbing site, number of sites, and pathogen species. Although these data constitute valuable results, they are not sufficient for providing the sole base of a thoughtful clinical decision. What is Known: • Body site's colonization may precede systemic infection. • Little is known on this mechanism in VLBW infants that are at higher sepsis' risk. What is New: •Colonizing bacteria partially correspond to pathogens of blood cultures in VLBW infants with sepsis. • Correspondence depends on swabbing site, number of sites, and pathogen species.

Long-term effect of epoetin alfa on clinical and biochemical markers in friedreich ataxia.

BACKGROUND: Friedreich ataxia is an autosomal recessive disease with no available therapy. Clinical trials with erythropoietin in Friedreich ataxia patients have yielded conflicting results, and the long-term effect of the drug remains unknown. METHODS: We designed a double-blind, placebo-controlled, multicenter trial to test the efficacy of epoetin alfa on 56 patients with Friedreich ataxia. The primary endpoint of the study was the effect of epoetin alfa on peak oxygen uptake (VO2 max) at the cardiopulmonary exercise test. Secondary endpoints were frataxin levels in peripheral blood mononuclear cells, improvement in echocardiography findings, vascular reactivity, neurological progression, upper limb dexterity, safety, and quality of life. Epoetin alfa or placebo (1:1 ratio) was administered subcutaneously at a dose of 1200 IU/Kg of body weight every 12 weeks for 48 weeks. RESULTS: A total of 56 patients were randomized; 27 completed the study in the active treatment group, and 26 completed the study in the placebo group[KG1]. VO2 max was not modified after treatment (0.01 [-0.04 to 0.05]; P = .749), as well as most of the secondary endpoint measures, including frataxin. The 9-hole peg test showed a significant amelioration in the treatment group (-17.24 sec. [-31.5 to -3.0]; P = .018). The treatment was safe and well tolerated. CONCLUSIONS: Although results are not in favor of an effect of epoetin alfa in Friedreich ataxia, this is the largest trial testing its effect. It is still possible that epoetin alfa may show some symptomatic effect on upper-limb performance. This study provides class I evidence that erythropoietin does not ameliorate VO2 max in patients with Friedreich ataxia. © 2016 International Parkinson and Movement Disorder Society.

Posterior mediastinal schwannoma.

An exceptional case of neurilemmoma in a 33-year-old asymptomatic man is described. Complete excision of an encapsulated 7.2-cm mass was achieved successfully. Pathological findings were consistent with a diagnosis of schwannoma with areas of sclerosis.