The Importance of Sphingomyelin Phosphodiesterase Acid-Like 3b (SMPDL-3b) Levels in Kidney Biopsy Specimens of Children With Nephrotic Syndrome.

OBJECTIVE: It remains unclear whether the low amount of SMPDL-3b required for rituximab binding is the cause of treatment resistance in patients with treatment-resistant nephrotic syndrome with advanced podocyte injury. Given the limited number of studies on the relationship between rituximab and SMPDL-3b, this study was conducted to assess whether SMPDL-3b levels in pretreatment renal biopsy specimens can be used to predict the clinical effectiveness of immunosuppressive drugs, especially rituximab, in children with nephrotic syndrome. METHODS: Kidney biopsy specimens from 44 patients diagnosed with idiopatic nephrotic syndrome were analyzed using immunohistochemical staining with an anti-SMPDL-3b antibody and real-time polymerase chain reaction (PCR) for SMPDL-3b mRNA expression. RESULTS: We showed that SMPDL-3b mRNA expression and anti-SMPDL-3b antibody staining did not differ significantly between the patient groups with different responses to immunosuppressive therapies. CONCLUSION: Our results suggest that SMPDL-3b may actually be an indicator of disease progression rather than a marker for predicting response to a particular immunosuppressive agent.

An exceptionally rare case of Cushing's syndrome caused by ectopic ACTH syndrome due to olfactory neuroblastoma in childhood.

OBJECTIVES: Ectopic adrenocorticotropic hormone secretion/syndrome (EAS) is caused by excess secretion of ACTH leading to hypercortisolism by non-pituitary, commonly malignant origins. We present a rare case of esthesioneuroblastoma (ENB) complicated by EAS in the follow-up period. CASE PRESENTATION: A child presented with nasal obstruction at the age of 10 months. Polypoid mass obstructing the right nasal passage was detected. Magnetic resonance imaging (MRI) showed a lesion limited within the nasal cavity. The lesion was completely removed by nasal endoscopic surgery. The pathologic examination revealed a diagnosis of esthesioneuroblastoma. It was confined to the nasal cavity so chemotherapy/radiotherapy was not administered and began to follow up. At 28 months of age, he presented with rapid weight gain. Laboratory data were consistent with Cushing's syndrome (CS). High-dose dexamethasone suppression test and imaging studies led us to think of ectopic ACTH syndrome originated from ENB relapse. After partial resection of the tumor, ketoconazole treatment was started along with chemotherapy. Hypercortisolemia was kept under control with ketoconazole treatment as long as the treatment was maintained. CONCLUSIONS: Cushing syndrome is a rare endocrine disorder. Adrenal sources of hypercortisolism and ectopic sources of ACTH overproduction should be investigated especially in young children.

Myocarditis and intracardiac thrombus due to Henoch-Schönlein purpura: case report and literature review.

Cardiac involvement is very rare in patients with Henoch-Schönlein purpura (HSP). In this case study, we present an 8-year-old girl presenting with HSP-induced myocarditis and thrombus in the right atrium and HSP nephritis. To date, 15 cases of HSP-related cardiac involvement have been reported in the PubMed/MEDLINE, Scopus, and Google Scholar databases. These cases, together with our case, are included in this review. We excluded those patients with other rheumatologic diseases (acute rheumatic fever, acute post-streptococcal glomerulonephritis, Kawasaki disease) accompanied by HSP. Three were children and 13 were adults and all were male except our case. This review revealed tachyarrhythmia, chest pain, dyspnea, murmur, and heart failure as the major signs. Cardiac tests, electrocardiogram (ECG), and imaging methods (echocardiography in all patients, cardiac magnetic resonance imaging (MRI) in three, cardiac biopsy in one, and post-mortem necropsy in three) showed that the cardiac involvements were pericardial effusion, intra-atrial thrombus, myocarditis, coronary artery changes, myocardial ischemia, infarction and necrosis, subendocardial hemorrhage, and left ventricular dilatation. Kidney involvement was not observed in three patients. As the treatment, high-dose prednisolone and cyclophosphamide, oral corticosteroid, azathioprine, nadroparin calcium, ACE inhibitors, calcium antagonists, beta-blockers, and diuretics were used. Eleven patients (all three children and eight of the adults) had a complete cardiac recovery. Cardiac involvement in adults was more likely to be fatal. Death (three patients), ischemia, and infarct have been reported only in adults. We suggested that early and aggressive treatment can be life-saving. MRI examination is effective at identifying cardiac involvement.

The importance of IDH1, ATRX and WT-1 mutations in glioblastoma.

Numerous genetic pathways associated with glioblastoma development have been identified. In this study, we investigated the prognostic significance of IDH1 and ATRX mutations and WT-1 and p53 expression in glioblastomas and that of surgical methods, radiotherapy and chemotherapy. 83 patients with glioblastomas were retrospectively evaluated. Immunohistochemical analysis was performed for IDH1, ATRX and WT-1 expression. Tumour cells were positive for IDH1 in 9.6% of the patients. In 4.8% of the patients, loss of ATRX expression was observed in tumour cells; 86.7% of the patients were WT-1 positive, and 12.05% of the patients were p53 positive. No statistically significant difference was found in the progression-free and overall survival according to IDH1, ATRX, WT-1 and p53 expression. There was a statistically significant difference in the progression-free and overall survival according to the radiotherapy status. There was a statistically significant difference in the overall survival according to the chemotherapy status. There was no statistically significant difference in the progression-free and overall survival according to the surgical method. IDH1 and ATRX mutations, p53 overexpression and WT-1 expression alone did not have a significant effect on the prognosis of patients with glioblastoma; however, radiotherapy and chemotherapy had a positive effect on survival.

A Hemophagocytic Lymphohistiocytosis Case with Newly Defined UNC13D (c.175G>C; p.Ala59Pro) Mutation and a Rare Complication.

Hemophagocytic lymphohistiocytosis (HLH) represents a severe hyperinflammatory condition with cardinal symptoms of prolonged fever, cytopenias, hepatosplenomegaly, and hemophagocytosis by activated, morphologically benign macrophages with impaired function of natural killer cells and cytotoxic T lymphocytes. A 2-month-old girl, who was admitted with fever, was diagnosed with HLH and her genetic examination revealed a newly defined mutation in the UNC13D (c.175G>C; p.Ala59Pro) gene. She was treated with dexamethasone, etoposide, and intrathecal methotrexate. During the second week of treatment, after three doses of etoposide, it was noticed that there was a necrotic plaque lesion on the soft palate. Pathologic examination of debrided material in PAS and Grocott staining revealed lots of septated hyphae, which was consistent with aspergillosis infection. Etoposide was stopped and amphotericin B treatment was given for six weeks. HLH 2004 protocol was completed to eight weeks with cyclosporine A orally. There was no patient with invasive aspergillosis infection as severe as causing palate and nasal septum perforation during HLH therapy. In immunocompromised patients, fungal infections may cause nasal septum perforation and treatment could be achieved by antifungal therapy and debridement of necrotic tissue.

Significance of IMP3, nucleophosmin, and Ki-67 expression in papillary thyroid carcinoma.

The purpose of our study was to investigate the diagnostic value of expression of IMP3, nucleophosmin, and correlation of these markers with Ki-67 proliferation index in papillary thyroid carcinoma and benign neoplasms of thyroid gland. The aim was also to investigate whether there is a difference between papillary and micropapillary carcinomas with regard to clinicopathologic parameters beside IMP3, nucleophosmin, and Ki-67 proliferation index. It was concluded that IMP3 and nucleophosmin cannot be a routine diagnostic marker for discrimination of papillary carcinomas and benign lesions. IMP3 positive staining was quite scarce in IMP3 positive papillary carcinomas although specifity of IMP3 is 100%. A statistically significant correlation was not detected between nucleophosmin, IMP-3, and Ki-67 proliferation index. A statistically significant correlation was found between tumor size, lymphovascular embolism, and Ki-67 proliferation index. There was also significant correlation between tumor size and lymphovascular embolism.

Could serum pentraxin 3 levels and IgM deposition in skin biopsies predict subsequent renal involvement in children with Henoch-Schönlein purpura?

BACKGROUND: The aim of this study was to evaluate the potential of serum pentraxin 3 (PTX3) values as an early predictor of subsequent renal involvement in patients with Henoch-Schönlein purpura (HSP) with no abnormalities on urinary examination and in renal function tests at disease onset. METHODS: This was a prospective cohort study which included 60 pediatric patients with HSP (age range 3-15 years) who were diagnosed between February 2011 and October 2012 and 60 age- and sex-matched healthy controls. The patients were followed up for at least 18 months. Clinical findings were recorded for all patients at first examination, and blood samples for routine laboratory parameters and PTX3 value as well as skin biopsy specimens were obtained from each subject. RESULTS: Of the 60 patients with HSP, 29 (48.3 %) developed subsequent renal involvement, of whom four underwent kidney biopsy. The mean serum PTX3 level of patients with subsequent renal involvement was significantly higher than those of patients without renal involvement and of the controls (2.20 ± 1.30 vs. 1.36 ± 0.85 and 1.03 ± 0.7 ng/ml, respectively; p = 0.004). Immunofluorescence evaluation of skin biopsy revealed that in addition to immunoglobulin A (IgA) deposition, the IgM deposition was significantly associated with subsequent renal involvement (p = 0.008). CONCLUSIONS: A high PTX3 level and IgM staining in skin biopsies from HSP patients may be harbingers of subsequent renal involvement.

What would be left behind if subtotal thyroidectomy were preferred instead of total thyroidectomy?

BACKGROUND: The choice between subtotal thyroidectomy (STT) and total thyroidectomy (TT) for multinodular goiter (MNG) remains controversial. METHODS: Thyroid tissue samples of 34 patients who underwent TT for multinodular disease between October 2005 and June 2007 in Pamukkale University Hospital, Department of General Surgery were evaluated. Thyroid tissues weighing 2 g each from either side were separated from the main specimen to simulate the tissues that would be left behind if a subtotal resection were performed instead of a total resection. Ki-67 staining was performed. RESULTS: The mean age of subjects was 49.3 +/- 12 years and 25 (73.5%) were females. Papillary microcarcinomas were found in 4 patients, 1 of which was in a residual thyroid specimen (RTS). Micronodule formations were found in 73.5% of specimens simulating residual thyroid. While Ki-67 indexes of residual thyroid tissues were 4.65% in nodules and 1.91% in normal areas (P < .05), they were 5.42% and 2.84%, respectively, for nodular and normal areas in the main specimens (P < .05). CONCLUSION: Remnant thyroid tissues, following STT, have a high percentage of micronodule formation with a remarkable cellular proliferative activity.

Ectopic prostatic tissue of the anal canal presenting with rectal bleeding: report of a case.

PURPOSE: Ectopic prostatic tissue at various sites within and outside the genitourinary system has been reported previously. A case of ectopic prostatic tissue located in the anal canal causing rectal bleeding is presented. METHOD: The patient was referred to our clinic with rectal bleeding. At rectal examination a bleeding sessile polypoid mass 2.5 cm in size was found in anal canal and removed surgically. RESULTS: Histopathologic and immunohistochemical staining of the specimen confirmed the prostatic nature of the tissue. CONCLUSION: Prostatic heterotopia is significant in several respects. Either it may be an important cause of hematuria or unusually, as in our case, it may cause rectal bleeding. In addition, ectopic tissue may be endoscopically confused with malignancy in either urinary or lower gastrointestinal system. This and other reports may disclose the genesis and significance of this peculiar tissue remnant.