Refinement of the diagnostic approach for the identification of children and adolescents affected by familial hypercholesterolemia: Evidence from the LIPIGEN study

Background and aims: We aimed to describe the limitations of familiar hypercholesterolemia (FH) diagnosis in childhood based on the presence of the typical features of FH, such as physical sings of cholesterol accumulation and personal or family history of premature cardiovascular disease or hypercholesterolemia, comparing their prevalence in the adult and paediatric FH population, and to illustrate how additional information can lead to a more effective diagnosis of FH at a younger age. Methods: From the Italian LIPIGEN cohort, we selected 1188 (≥18 years) and 708 (<18 years) genetically-confirmed heterozygous FH, with no missing personal FH features. The prevalence of personal and familial FH features was compared between the two groups. For a sub-group of the paediatric cohort (N = 374), data about premature coronary heart disease (CHD) in second-degree family members were also included in the evaluation. Results: The lower prevalence of typical FH features in children/adolescents vs adults was confirmed: the prevalence of tendon xanthoma was 2.1% vs 13.1%, and arcus cornealis was present in 1.6% vs 11.2% of the cohorts, respectively. No children presented clinical history of premature CHD or cerebral/peripheral vascular disease compared to 8.8% and 5.6% of adults, respectively. The prevalence of premature CHD in first-degree relatives was significantly higher in adults compared to children/adolescents (38.9% vs 19.7%). In the sub-cohort analysis, a premature CHD event in parents was reported in 63 out of 374 subjects (16.8%), but the percentage increased to 54.0% extending the evaluation also to second-degree relatives. Conclusions: In children, the typical FH features are clearly less informative than in adults. A more thorough data collection, adding information about second-degree relatives, could improve the diagnosis of FH at younger age

Reference intervals for the echocardiographic measurements of the right heart in children and adolescents: a systematic review

BACKGROUND: Transthoracic echocardiography is the primary imaging modality for the diagnosis of right ventricular (RV) involvement in congenital and acquired heart diseases. There is increasing recognition of the contribution of RV dysfunction in heart diseases affecting children and adolescents, but there is insufficient information on reference intervals for the echocardiographic measurements of the right heart in children and adolescents that represent all the continental populations of the world.OBJECTIVE:The aim of this systematic review was to collate, from published studies, normative data for echocardiographic evaluation of the right heart in children and adolescents, and to identify gaps in knowledge in this field especially with respect to sub-Saharan Africans. METHODS: We performed a systematic literature search to identify studies of reference intervals for right heart measurements as determined by transthoracic echocardiography in healthy children and adolescents of school-going age. Articles were retrieved from electronic databases with a combination of search terms from the earliest date available until May 2013. RESULTS: Reference data were available for a broad range of variables. Fifty one studies out of 3096 publications were included. The sample sizes of the reference populations ranged from 13 to 2036 with ages varying from 5 to 21 years. We identified areas lacking sufficient reference data. These included reference data for determining right atrial size, tricuspid valve area, RV dimensions and areas, the RV % fractional area change, pulmonary artery pressure gradients and the right-sided haemodynamics, including the inferior vena cava dimensions and collapsibility. There were no data for sub-Saharan African children and adolescents. CONCLUSION: Reliable reference data are lacking for important echocardiographic measurements of the RV in children and adolescents, especially for sub-Saharan Africans

Profili di sviluppo psico-sociale in bambini con DSA e ADHD: Un contributo alla standardizzazione italiana della Scala Vineland II -survey form

Nell’ambito dello studio per la standardizzazione italiana della Scala Vineland II -.Survey Form (Balboni, Belacchi, Bonichini e Coscarelli, in preparazione) è stata condotta una ricerca sulle caratteristiche di sviluppo delle abilità di adattamento psico-sociale in 20 bambini maschi (range d’età: 7-14 anni) che presentavano quadri di DSA (N = 9), ADHD (n = 5) o misto (N = 6). L’intervista è stata sottoposta alle madri. Per quanto riguarda l’influenza generale dell’età (fasce: 7-10 anni vs. 11-14) è emerso un miglioramento significativo in funzione dell’età nelle competenze relative alle sottoscale “Espressione” e “Scrittura”; per quanto riguarda le differenze tra i tre sottogruppi, i bambini con DSA hanno evidenziato competenze significativamente più elevate nelle sottoscale “Ricezione” e “Regole Sociali”, mentre i bambini con ADHD maggiori carenze in “Regole Sociali”. I bambini con disturbo misto hanno ottenuto punteggi mediamente inferiori, anche se non in maniera significativa, nella maggior parte delle scale

Laparoscopic radiofrequency renal ablation in patients with simultaneous visceral tumors: Long-term follow-up

Purpose: To report our experience with in situ laparoscopic radiofrequency ablation (RFA) of renal tumors. Patients and Methods: From September 2000 to May 2002, two men, 81 and 71 years old, and one woman, 75 years old, were referred to our department for right renal clear-cell carcinoma < 3.5-cm diameter. The 71-year-old patient had only one kidney. Because of the tumor location, the percutaneous route was not considered the approach of choice. Moreover, a simultaneous large right adrenal incidentaloma (myelolipoma) and a right colon cancer were known to be present in the second and third patient, respectively. The aforementioned findings suggested the laparoscopic route as a preferable technique to treat both the renal and the other morbidities. Results: Under laparoscopic ultrasonography control of tine placement, a 20-minute thermoablation cycle at 100'degrees mean temperature was performed. Including right colectomy and right adrenalectomy, the operative time was 120, 200, and 275 minutes, with postoperative hospital stays of 3, 4, and 6 days for the three patients, respectively. Abdominal CT scans after 1 and 4 weeks and then every 6 months confirmed complete treatment of the lesion at 44 months' average follow-up (range 36-56 months). Conclusion: When percutaneous access is not feasible or the patient should undergo another laparoscopic procedure simultaneously, laparoscopic RFA of renal tumors is feasible and effective, as shown by long-term follow-up

Long-term results after laparoscopic transverse choledochotomy for common bile duct stones

Background: The aim of this study was to evaluate the long-term results of laparoscopic transverse choledochotomy (TC) during laparoscopic cholecystectomy (LC). Methods: Ductal stones were present in 344 of 3,212 patients (10.7%) who underwent LC. The procedure Was completed laparoscopically in 329 cases (95.6%), with a TC in 138 cases (41.9%) (the subjects of this study), and with a transcystic duct approach in 191 cases (58.1%). Results: Biliary drainage was used in 131 of 138 cases (94.9%). There were major complications in eight patients (5.7%), and one patient died (0.7%). Retained stones were seen in 11 cases (8%). None of the patients was lost to follow-up (mean, 72.3 months; range, 11-145). Ductal stones recurred in five patients (3.6%). No signs of bile stasis and no biliary strictures were observed. In all, 121 patients are alive with no biliary symptoms; 16 have died from unrelated causes. Conclusion: Long-term follow-up after laparoscopic TC during LC proved its safety and efficacy