L’ipercolesterolemia familiare: terapia farmacologica

Nei casi di dislipidemia d’origine genetica, spesso associati a gravi quadri di morbilità e mortalità cardio-vascolari già in giovane età, la diagnosi e il trattamento precoci risultano cruciali per prevenire o ritardare le complicanze. a dieta, povera di grassi saturi e di colesterolo, deve essere considerata il primo approccio terapeutico nei bambini di età superiore ai 2 anni con ipercolesterolemia ; essa garantisce infatti il mantenimento di un apporto nutrizionale adeguato alla crescita e al regolare sviluppo puberale. Si consiglia di limitare l’uso dei farmaci ipocolesterolemizzanti ai pazienti di età superiore ai 10 anni in cui la dieta, seppur severa, non sia efficace, soprattutto se sono presenti più fattori di rischio cardiovascolari. Ad oggi, tra tutti i farmaci ipocolesterolemizzanti, solo le resine sequestranti acidi biliari sono raccomandate nell’infanzia e nell’adolescenza. La loro scarsa palatibilità limita la compliance alla terapia in età pediatrica. Sempre maggiore è l’interesse verso le statine. Gli studi presenti in letteratura sull’efficacia e la sicurezza delle statine in pediatria danno risultati positivi, seppur condotti su casistiche limitate e prendendo in esame solo gli effetti avversi a breve termine. Recentemente un nuovo farmaco, ezetimibe, sembra efficace e sinergico all’attività terapeutica delle statine. Questa revisione si propone di segnalare le più recenti acquisizioni sulla diagnosi, la terapia e il follow-up dell’ipercolesterolemia familiare in età pediatrica

Prevenzione e aspetti psico-sociali dell\u2019obesit\ue0 in et\ue0 evolutiva.

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Basi genetiche ed aspetti terapeutici delle ipercolesterolemie familiari

Atherosclerosis represents a disease that begins in childhood and low-density lipo-protein cholesterol plays a pivotal role for the development of this pathology. Children and adolescents with highcholesterol levels are more likely, than their peers, to present cholesterol elevation as adults. The identification of genetic dyslipidemias associated with premature cardiovasculardisease is crucial during childhood in order to delay or prevent the atherosclerotic process. Guidelines for the diagnosis and treatment of hypercholesterolemia during pediatric age are available from the National Cholesterol Education Program. A heart-healthy diet limiting rotaiand saturated fat intake should begin at age 2 years and a large number of studies have demonstrated no adverse effects on nutritional status, growth, pubertal development and psychological aspects in children and adolescents. Pharmaco- therapy should be considered in children over l0 years of age when low-density lipoprotein cholesterol concentrations remain very high despite severe dietary therapy, especially when multiple riskFactors are present the only lipid-lowering drugs recommended until now for childhood and adolescence are the resins which although have been reported to be effective and well tolerated, have shown to be associated with very poor compliance because of unpalatability. The use of statins is increasing and seems to be effective and sale in children, even if current studies have enrolled only a small number of patients and evaluated efficacy and safety (for short-term follow-up). Recently, a new drug, ezetimibe, seems to be efficacious and is synergic to the cholesterol-lowering therapeutic effects of statins. This review provides an update on recent advances in the diagnosis, therapy, and follow-up of familial hypercholesterolemia during pediatric age and adolescence

Association of state and trait anxiety to semen quality of in vitro fertilization patients: A controlled study

Objective: To investigate the relationship between semen quality and state/trait anxiety in patients enrolled in an in vitro fertilization (IVF) program and in control subjects. Design: Cross-sectional study. Setting: Centre for Reproductive Medicine and Biology, European Hospital, Rome. Patient(s): Ninety-four first-Attempt IVF patients and 85 age-matched, random subjects recruited in the period July 2006 through March 2008. Intervention(s): None. Main Outcome Measure(s): Behavioral features of stress, including state and trait anxiety, self-perceived impact of physical disturbance on everyday activities, ethanol consumption, cigarette smoking, and semen parameters such as semen volume, sperm concentration, total count, motility, morphology, and DNA fragmentation. Result(s): Increased levels of both state and trait anxiety were associated with lower semen volume, sperm concentration and count, reduced sperm motility, and increased sperm DNA fragmentation of IVF patients, thus influencing seminal parameters at the macroscopic and cellular/subcellular levels. Similar results were obtained in the controls. Conclusion(s): Our data confirm previous observations with state anxiety and show that trait anxiety also is negatively associated with male fertility. © 2013 American Society for Reproductive Medicine

Diagnosi e follow-up di un caso di iperinsulinismo congenito.

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Deficit di ormone della crescita (GH) di origine genetica

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