Renal ganglioneuromas in a pediatric patient: Case report and review of the literature

AbstractGanglioneuromas are rare benign tumors originating from the sympathetic nervous system and neural crest cells. A 4-year-old girl presented with numerous urinary tract infections. Ultrasound and computed tomography revealed a large mass within the right kidney. A right nephrectomy and sampling of surrounding lymph nodes were performed. Pathology confirmed that the mass was a mature ganglioneuroma. The patient remains disease-free, more than 2 years after surgery. We present this rare case of renal ganglioneuroma as well as a review of the literature

Endobronchial Carcinoid Tumour with Extensive Ossification: An Unusual Case Presentation

Carcinoid tumour is a well-known primary endobronchial lung neoplasm. Although calcifications may be seen in up to 30% of pulmonary carcinoid tumours, near complete ossification of these tumours is an unusual finding. Such lesions can prove diagnostically challenging at the time of intraoperative frozen section as the latter technique requires thin sectioning of the lesion for microscopic assessment. We present an unusual case of endobronchial carcinoid tumour with extensive ossification in a 45-year-old male. Preliminary intraoperative diagnosis was achieved through the alternative use of cytology scrape smears. The final diagnosis was confirmed after decalcification of the tumour. The prognostic implications of heavily ossified carcinoid tumours remain elusive. Long-term clinical follow-up of these patients is recommended

Genome-wide meta-analysis uncovers novel loci influencing circulating leptin levels.

Leptin is an adipocyte-secreted hormone, the circulating levels of which correlate closely with overall adiposity. Although rare mutations in the leptin (LEP) gene are well known to cause leptin deficiency and severe obesity, no common loci regulating circulating leptin levels have been uncovered. Therefore, we performed a genome-wide association study (GWAS) of circulating leptin levels from 32,161 individuals and followed up loci reaching P<10(-6) in 19,979 additional individuals. We identify five loci robustly associated (P<5 × 10(-8)) with leptin levels in/near LEP, SLC32A1, GCKR, CCNL1 and FTO. Although the association of the FTO obesity locus with leptin levels is abolished by adjustment for BMI, associations of the four other loci are independent of adiposity. The GCKR locus was found associated with multiple metabolic traits in previous GWAS and the CCNL1 locus with birth weight. Knockdown experiments in mouse adipose tissue explants show convincing evidence for adipogenin, a regulator of adipocyte differentiation, as the novel causal gene in the SLC32A1 locus influencing leptin levels. Our findings provide novel insights into the regulation of leptin production by adipose tissue and open new avenues for examining the influence of variation in leptin levels on adiposity and metabolic health

Genome-wide meta-analysis uncovers novel loci influencing circulating leptin levels

Leptin is an adipocyte-secreted hormone, the circulating levels of which correlate closely with overall adiposity. Although rare mutations in the leptin (LEP) gene are well known to cause leptin deficiency and severe obesity, no common loci regulating circulating leptin levels have been uncovered. Therefore, we performed a genome-wide association study (GWAS) of circulating leptin levels from 32,161 individuals and followed up loci reaching P <10(-6) in 19,979 additional individuals. We identify five loci robustly associated (P <5 x 10(-8)) with leptin levels in/near LEP, SLC32A1, GCKR, CCNL1 and FTO. Although the association of the FTO obesity locus with leptin levels is abolished by adjustment for BMI, associations of the four other loci are independent of adiposity. The GCKR locus was found associated with multiple metabolic traits in previous GWAS and the CCNL1 locus with birth weight. Knockdown experiments in mouse adipose tissue explants show convincing evidence for adipogenin, a regulator of adipocyte differentiation, as the novel causal gene in the SLC32A1 locus influencing leptin levels. Our findings provide novel insights into the regulation of leptin production by adipose tissue and open new avenues for examining the influence of variation in leptin levels on adiposity and metabolic health.Peer reviewe

Bullous leukemia cutis: a rare clinical subtype

Leukemia cutis represents infiltration of the skin by malignant leukocytes and typically presents as firm, red-brown papules and nodules. The bullous clinical subtype is considered a rare entity and can be a diagnostic challenge. This case describes a patient with bullous leukemia cutis mimicking vesiculobullous skin disease

Is focal active colitis of greater clinical significance in pediatric patients? A retrospective review of 68 cases with clinical correlation.

Focal active colitis (FAC) is a histopathologic finding of uncertain clinical significance in individual patients. In adults, infection accounts for approximately 50%, Crohn\u27s disease (CD) for 0-13%, and 20%-30% are idiopathic. One previous study of 29 cases of pediatric FAC showed a 28% rate of CD. This study reviewed a larger cohort of pediatric patients to determine what proportion had IBD, and whether an amount or pattern of inflammation could predict IBD. Sixty-eight patients aged ≤18years with FAC were identified and reviewed. Patients with a prior diagnosis of IBD or chronic colitis in the index biopsies were excluded. Slides were assessed for a number of inflammatory criteria. Clinical data and final diagnoses were recorded. Data were analyzed using Pearson correlations and Fisher\u27s exact χ2 analyses. Sixteen patients (24%) had a final diagnosis of IBD. When cases with terminal ileal (TI) inflammation were excluded, 6 of 54 patients had a final diagnosis of IBD (11%). A final diagnosis of IBD was significantly associated with crypt abscesses and elevated serum inflammatory markers. IBD was significantly associated with TI inflammation. An amount or pattern of inflammation that could be used to predict IBD was not determined. This study demonstrated a 24% rate of IBD in pediatric patients with FAC; however, when patients with associated TI inflammation were excluded, the rate was 11%, similar to reported rates in adults. FAC in pediatric patients without terminal ileal inflammation does not appear to warrant more aggressive follow-up

Fractional Gluconeogenesis: A Biomarker of Dietary Energy Adequacy in a Rat Brain Injury Model

Patients treated for traumatic brain injury (TBI) are in metabolic crises because of the trauma and underfeeding. We utilized fractional gluconeogenesis (fGNG) to assess nutritional adequacy in ad libitum-fed and calorically-restricted rats following TBI. Male Sprague–Dawley individually housed rats 49 days of age were randomly assigned into four groups: ad libitum (AL) fed control (AL-Con, sham), AL plus TBI (AL+TBI), caloric restriction (CR) control (CR-Con, sham), and CR plus TBI (CR+TBI). From days 1–7 animals were given AL access to food and water containing 6% deuterium oxide (D2O). On day 8, a pre-intervention blood sample was drawn from each animal, and TBI, sham injury, and CR protocols were initiated. On day 22, the animals were euthanized, and blood was collected to measure fGNG. Pre-intervention, there was no significant difference in fGNG among groups (p ≥ 0.05). There was a significant increase in fGNG due to caloric restriction, independent of TBI (p ≤ 0.05). In addition, fGNG may provide a real-time, personalized biomarker for assessing patient dietary caloric needs