Background. Amyloidosis is a group of disorders with extracellular accumulation of autologous fibrillary insoluble proteins in various tissues and organs such as the kidneys, liver, spleen, heart and ...gastrointestinal tract leading to impairment of normal organ function. Childhood amyloidosis is an exceedingly rare entity mainly caused by familial Mediterranean fever (FMF) and the other autoinflammatory diseases such as mevalonate kinase deficiency (MKD).
Case. A 16-year-old male was referred to pediatric nephrology for coincidentally discovered proteinuria. He had no significant findings on physical examination except for urochromic color. He had nephrotic range proteinuria with 109 mg/m2/h and serum creatinine was 1.35 mg/dl. Kidney biopsy was performed because of nephrotic range proteinuria with acute kidney injury. In hematoxylin-eosin-stained tissue sections, amyloid was suggested as extracellular amorphous material that is lightly eosinophilic in the glomeruli. Diagnosis was confirmed by Congo red positivity, with apple-green birefringence under polarized light. MEFV gene mutation was negative and a compound heterozygote mutation found in mevalonate kinase gene. A 6-monthtrial of colchicine, enalapril, and losartan combination was not successful; Canakinumab was started thereafter. Proteinuria and creatinine decreased to 7 mg/m2/h and 0.6 mg/dl respectively 4 years after treatment.
Conclusions. Amyloidosis should be considered especially in children presenting with proteinuria and with a history of recurrent fever. This report also emphasizes the efficacy of canakinumab to prevent or decelerate chronic renal failure in these patients although it does not reduce tissue deposition in long-term use.
Background
Clear cell type renal cell carcinoma (ccRCC) is the most common renal cell carcinoma (RCC). In this study, we examined the expressions of
VHL
and miR-223 in ccRCC patients׳ tissues to ...investigate the possible role in the development of ccRCC.
Methods and results
This study collected five expression profiles (GSE36139, GSE3, GSE73731, GSE40435, and GSE26032) from Gene Omnibus Data. Expressions of
VHL
and miR-223 in paraffinized tumor and normal tissues of 100 Turkish patients' ccRCC tissues were determined by bioinformatic data mining and real-time quantitative polymerase chain reaction (qRT-PCR). The
VHL
gene was subjected to mutational analysis by DNA sequencing, and pVHL was analyzed using western blotting. Our study's t-test and Pearson correlation analysis showed that
VHL
gene expression in tumoral tissues with a − 0.39-fold decrease was not significantly lower than normal tissues (p = 0.441), and a 0.97-fold increase miR-223 (
p
= 0.045) was determined by real-time PCR. Also, as a result of DNA sequence analysis performed in the
VHL
gene, it was found that 26% of the patients have mutations. The mutations for (
VHL
):c.60C>A (p.Val20=) and (
VHL
):c.467delA (p.Tyr156Leu) was detected for the first time in Turkish patients.
Conclusions
The present study demonstrated that the differences in the expression levels of miR-223 have the potential to be biomarkers to determine the poor prognosis in ccRCC.
The links between parenting and child behaviour in cultural context have received increasing research attention. We investigated the effect of parenting on child adjustment using a multi-method ...design, comparing English and Turkish families. The socioeconomically diverse samples included 118 English and 100 Turkish families, each with two children aged 4-8 years. Mothers completed questionnaires as well as parent-child interaction being assessed using a structured Etch-a-Sketch task with each child separately. Children were interviewed about their relationships with their mothers using the Berkeley Puppet Interview. Multiple-group Confirmatory Analysis was used to test Measurement Invariance across groups, and a multi-informant approach was used to assess parenting. We found partial crosscultural measurement invariance for parenting and child adjustment. Strikingly, the association between parenting and child adjustment was stronger among English families than Turkish families. Culturally distinct meanings of both parenting and child behaviour must be considered when interpreting their association.
To comparatively evaluate the traditional interrupted knot-tying and running suture renorrhaphy with Monocryl® in laparoscopic partial nephrectomy (LPN).
A retrospective analysis of 62 consecutive ...patients undergoing LPN using traditional interrupted knot-tying suture renorrhaphy (Group 1; n=31) or running suture technique renorrhaphy with 2-0 monofilament polyglecaprone (Monocryl®, Ethicon) (Group 2; n=31) from December 2011 to October 2015 at the University. All patients underwent LPN performed by an experienced laparoscopic surgeon. The demographic, perioperative and postoperative parameters were compared between the groups, and the effect of both suture techniques on the warm ischemic time (WIT) and trifecta were evaluated.
The running suture renorrhaphy with Monocryl® reduced WIT, estimated blood lost and length of hospitalization stay significantly without increasing postoperative complication rate during LPN in comparison with interrupted knot-tying suture.
The renorrhaphy using the running suture with Monocryl® is an effective and safe technique with the advantage of shortening WIT even in more challenging and larger tumors during LPN.
ABSTRACT Purpose: In this study we aimed to review urological soft tissue sarcomas of genitourinary tract that were diagnosed in our institution and their prognostic factors for survival. Materials ...and Methods: The clinical and pathological records of 31 patients who had diagnosis of soft tissue sarcomas primarily originating from the genitourinary tract between 2005-2011 were reviewed. Results: The most common site was kidney (17 cases, 54.8%), and most common diagnosis was leiomyosarcoma (11 cases, 35.4%). A total of 24 patients (77.4%) had surgical excision. The surgical margins were positive in 7 patients who presented with local recurrence after primary resection. Twelve patients developed metastatic disease. During follow-up (range 9-70 month), 26 of the 31 patients (88.9%) were alive. Significant survival differences were found according to histological type (p: 0.001), with lower survival rates for malignant fibrous histiocytoma. The tumor size, the presence of metastasis at the time of diagnosis and tumor localization were not statistically significant for overall survival. Conclusions: In our series, prostate sarcomas, paratesticular rhabdomyosarcoma and malignant fibrous histiocytoma had poor prognosis, especially in patients presenting with metastatic disease.
We compared the cost-effectiveness of laparoscopic simple prostatectomy (LSP) vs open prostatectomy (OP).
A total of 73 men treated for benign prostatic hyperplasia were enrolled for OP and LSP in ...groups 1 and 2, respectively. The findings were recorded perioperative, including operation time (OT), blood lost, transfusion rate, conversion to the open surgery, and the complications according to the Clavien Classification. The postoperative findings, including catheterization and drainage time, the amount of analgesic used, hospitalization time, postoperative complications, international prostate symptom score (IPSS) and International Index of Erectile Function (IIEF) scores, the extracted prostate weight, the uroflowmeter, as well as postvoiding residual (PVR) and quality of life (QoL) score at the postoperative third month, were analyzed. The cost of both techniques was also compared statistically.
No statistical differences were found in the preoperative parameters, including age, IPSS and QoL score, maximum flow rate (Qmax), PVR, IIEF score, and prostate volumes, as measured by transabdominal ultrasonography. No statistical differences were established in terms of the OT and the weight of the extracted prostate. No differences were established with regard to complications according to Clavien's classification in groups. However, the bleeding rate was significantly lower in group 2. The drainage, catheterization, and hospitalization times and the amount of analgesics were significantly lower in the second group. The postoperative third month findings were not different statistically. Only the Qmax values were significantly greater in group 2. While there was only a $52 difference between groups with regard to operation cost, this difference was significantly different.
The use of LSP for the prostates over 80 g is more effective than the OP in terms of OT, bleeding amount, transfusion rates, catheterization time, drain removal time, hospitalization time, consumed analgesic amount, and Qmax values. On the other hand, the mean cost of the LSP is higher than OP. Better effectiveness comes with higher cost.
Congenital nephrotic syndrome (CNS) is a rare disease inherited as an autosomally recessive trait and defined as proteinuria manifesting at birth or in the first 3 months of life. The classical form ...is the Finnish type of CNS (CNF), which is caused by mutations in the nephrin gene (NPHS1). The classical findings include prematurity, large placenta and massive proteinuria. Minor cardiac findings have been reported as a minor functional disorder but CNS with major cardiac malformation is rare. Here we report the case of a Turkish child with CNS with small indel mutation (c.614_621delCACCCCGGinsTT) in exon 6 of NPHS1 and also major cardiac malformation who did not develop end-stage renal disease until the age of 5 years.
Urothelial carcinoma of the bladder is a rare condition in children, and most cases in this age group are noninvasive and low-grade. However, no follow-up protocol has been defined for this patient ...group. The objective of this study was to draw attention to bladder tumors in children and focus on the current recommendations for postoperative follow-up along with a case study of four patients.
Four patients aged <18 years with urothelial carcinoma who were treated in our clinics between 2001 and 2015 were retrospectively evaluated. The results were compared with those of published pediatric case series in the literature. No abnormalities were found in the patients’ physical examinations and laboratory analyses, except hematuria (microscopic or macroscopic). Ultrasonography was used in all the patients to detect lesions in the bladder. Surgical resections were performed endoscopically, except in one patient. Histopathological evaluations revealed low-grade superficial urothelial carcinoma. No recurrence or complication was observed for all patients.
Although rarely encountered during childhood, urothelial carcinoma should be considered as a differential diagnosis in pediatric patients with hematuria.
Estrogen receptors in prostate cancer (PCa) are a subject of debate. The aim of the present study was to investigate whether estrogen receptor-alpha (ERalpha) and estrogen receptor-beta (ERbeta) ...impact the biochemical recurrence (BCR) of non-metastatic PCa after surgery. Following the application of the exclusion criteria, data from 108 patients who underwent laparoscopic radical prostatectomy between January 2011 and December 2019 were retrospectively evaluated. A total of 36 patients with BCR constituted the BCR group. The control group was formed using the Propensity Score Matching (PSM) method with a 1:2 ratio, including parameters with well-studied effects on BCR. The median follow-up time was 74.3 (range, 30-127.5) months in the BCR group and 66.6 (range, 31.5-130) months in the control group. Pathology specimens from the two groups were immunohistochemically stained with ERalpha and ERbeta antibodies. Logistic regression analysis and survival analysis were performed. No differences in clinico-pathological characteristics were detected between the two groups. The patients with ERalpha(-)/ER beta(+) staining results had a significantly fewer BCRs than other patients (P=0.024). In the logistic regression analysis, patients with ERalpha(-)/ERbeta(+) PCa also had a significantly lower risk of recurrence (P=0.048). In the survival analysis, the 5-year BCR-free survival rate of patients with ERalpha(-)/ERbeta(+) PCa was higher than that of other patients (85.7 vs. 66.1%; P=0.031). Excluding the effects of well-studied risk factors for recurrence by the PSM method, the present study showed that ERalpha and ERbeta have prognostic value for non-metastatic PCa. The 5-year BCR-free survival rate is significantly higher in patients whose PCa tissue has ERalpha(-)/ERbeta(+) staining results. Key words: prostate cancer, estrogen receptor-alpha, estrogen receptor-beta, laparoscopic radical prostatectomy, biochemical recurrence-free survival
Objective: Nephrogenic adenomas (NA) are benign lesions that may occur in several sites throughout the urinary tract, from the renal pelvis to urethra, and especially in the bladder. They are ...strongly associated with urinary tract irritation, chronic inflammation, previous urologic surgery, and intravesical instrumentations. Our study aims to evaluate and present the clinicopathologic characteristics and findings of cases that were diagnosed with nephrogenic adenoma accompanied by relevant information from the literature.
Material and Methods: Our study includes 30 patients who were pathologically diagnosed with NA from February 2005 to November 2017.
Results: Among these patients, 63.3% were males and mean age was 60 years. The most common site of occurrence was the bladder (86.6%), followed by the ureter (6.7%) and the urethra (6.7%). Most patients presented with hematuria (36.7%). History of concurrent bladder cancer was present in 26.7% of patients, but there were no cases of de novo bladder cancer diagnosed after NA. Recurrence of NA after initial resection occurred in only 10% of patients who underwent follow-up cystoscopy. Nephrogenic adenoma is a rare lesion associated with nonspecific symptoms and endoscopic features. Definite diagnosis must be made after histological analysis of resected specimens.
Conclusion: Nephrogenic adenoma is a rare lesion associated with nonspecific symptoms and nonspesific endoscopic features. A definite diagnosis must be after histological analysis of resected specimens.
Keywords: nephrogenic adenoma, urothelial lesion, bladder, ureter
PDF
