Citations

SummaryHaemorrhagic complications remain a challenge with surgical procedures in patients with bleeding disorders. In children and young adults, the most commonly performed surgeries are tonsillectomies and/or adenoidectomies. Adequate haemostasis in these patients with bleeding disorders is centred on comprehensive perioperative haemostatic support and dexterous surgical technique. The aim of this study was to assess postoperative bleeding complications with tonsillectomy and/or adenoidectomy in children and young adults with known bleeding disorders. Retrospective review of all patients aged <25 years with known bleeding disorders who underwent tonsillectomy and/or adenoidectomy at Mayo Clinic, Rochester MN between July 1992 and July 2012. In contrast to reported literature, we observed a higher rate of bleeding complications (10/19, 53%) despite aggressive haemostatic support and appropriate surgical techniques. Delayed bleeding (>24 h postoperatively) was more common than early bleeding; and recurrent bleeding was associated with older age. Children and young adults with haemorrhagic diatheses undergoing adenotonsillectomy are at a higher risk of delayed bleeding and require close monitoring with haemostatic support for a prolonged duration in the postoperative period. A uniform approach is needed to manage these patients perioperatively by establishing standard practice guidelines and ultimately reduce postsurgical bleeding complications.

Pediatric intracranial aneurysms are exceedingly rare and account for less than 5% of all intracranial aneurysms. Open surgery to treat such aneurysms has been shown to be more durable than endovascular techniques, and durability of treatment is particularly important in the pediatric population. Over the past 2 decades, however, a marked shift in aneurysm treatment from open surgery toward endovascular procedures has occurred for adults. The authors describe their early experience in treating 3 unruptured pediatric brain aneurysms using the Pipeline embolization device (PED). The first patient, a girl with Majewski osteodysplastic primordial dwarfism Type II who was harboring multiple intracranial aneurysms, underwent two flow diversion procedures for a vertebrobasilar aneurysm and a supraclinoid internal carotid artery aneurysm. The second patient underwent PED placement on a previously coiled but enlarging posterior communicating artery aneurysm. All procedures were uneventful, with no postsurgical complications, and led to complete angiographic obliteration of the aneurysms. To the authors' knowledge, this is the first series of flow diversion procedures in children reported in the medical literature. While flow diversion is a new and relatively untested technology in children, outcomes in adults have been promising. For challenging lesions in the pediatric population, flow diversion may have a valuable role as a well-tolerated, safe treatment with durable results. Many issues remain to be addressed, such as the durability of flow diverters over a very long follow-up and vessel response to growth in the presence of an endoluminal device.

SummaryObjectiveTo report the prevalence of parathyroid carcinoma (PC) in patients with multiple endocrine neoplasia type 1 (MEN1) and review of the literature.BackgroundPrimary hyperparathyroidism (PHP) is the most common manifestation of MEN1. The occurrence of PC in patients with MEN1 is rare and the literature regarding the clinical manifestations – including the prevalence of the disease – is scarce.ContextSingle tertiary care centre experience from 1977 to 2013.DesignElectronic search of the medical records to identify a cohort of patients with MEN1. Literature review based on current case reports.PatientsSingle case of PC in a cohort of 348 patients with MEN1. Ten cases of PC in patients with MEN1 reported in the literature.MeasurementClinical features of PC in patients with MEN1.ResultsThe prevalence of PC in 348 patients with MEN1 was found to be 0·28% (95% CI, 0–1·4%). Based on the current published cases of PC in patients with MEN1, 54·5% were women, mean age at diagnosis was 48·3 years, and the serum PTH concentrations at least four times the upper limit of the reference range in 73% of the cases.ConclusionPC in patients with MEN 1 is rare with a prevalence of 0·28%, and the clinical features are similar to PC in patients without MEN1.

AbstractBackgroundHigh‐resolution manometry using the Chicago classification, which utilizes parameters including integrated relaxation pressure (IRP), distal contractile integral (DCI), and contractile front velocity (CFV), shows better diagnostic ability than previous conventional criteria. However, the current normal cut‐off values for the Chicago classification are based on individuals aged 19–48 years and do not include older people. Here, we aimed to assess the normal values for the Chicago classification in individuals aged 20–67 years and compare the parameters across age groups.MethodsFifty‐four asymptomatic healthy individuals (27 male and 27 female; age range. 20–67 years) were prospectively enrolled. To evaluate the effect of age and sex on manometric profiles, we attempted to enroll equal numbers of male and female subjects for each decade. Manometry was performed in both the supine and sitting positions.Key ResultsThe distal latency (DL) was significantly shorter with increasing age in both measurement positions. Furthermore, IRP was significantly higher with increasing age in both positions. Spearman's ranked correlation coefficient analysis indicated that DCI and IRP in both positions were positively correlated with age.Conclusions & InferencesAge affects the key parameters currently used in the Chicago classification, including IRP, DCI, and DL. Larger prospective studies with older subjects are needed to determine the age‐related normal values for the Chicago classification system.

Key PointsIn this first ALL GWAS in AYAs, we determined that inherited GATA3 variants strongly influence ALL susceptibility in this age group. These findings revealed similarities and differences in the genetic basis of ALL susceptibility between young children and AYAs.

SummaryBackground/ObjectivesLow‐grade inflammation is an underlying feature of obesity and identifying inflammatory markers is crucial to understanding this disease. Therefore, the purpose of this study was twofold: (i) to perform a global microarray analysis and (ii) to investigate the role of lactoferrin (LTF), one of the most altered genes, in relation to obesity in Latino youth.MethodsNon‐diabetic Latino youth (71 males/92 females; 15.6 ± 3.2 years) were studied. A subset of 39 participants was randomly selected for global microarray analysis profiling from the whole blood sample. Serum LTF was compared between lean (n = 78) and overweight/obese (n = 85) participants.ResultsMicroarray analysis revealed that a total of 1870 probes were altered in expression ≥1.2‐fold and P < 0.05 in overweight/obese participants compared with lean. KEGG (Kyoto Encyclopedia of Genes and Genomes) analysis revealed significant enrichment for pathways including toll‐like receptor (TLR) and B cell receptor signalling pathways. LTF and TLR5 were increased in expression by 2.2 and 1.5 fold, respectively, in the overweight/obese participants. Increased LTF concentrations were significantly associated with high risk of obesity‐related phenotypes (all P < 0.05).ConclusionsOur data suggest that increased LTF is associated with obesity risk among Latino youth. This finding is discordant to what has been shown in adults and suggests that age may modulate the association between LTF and obesity‐related health.