The acute scrotum (AS) in the pediatric population is a medical emergency. AS is usually caused by testicular torsion (TT) and torsion of the appendix testis (TAT). The current study explored which demographic and clinical characteristics can help distinguish between TT and TAT. We analyzed all children ≤16 years who underwent surgical exploration for AS. The patients were divided into Group 1/TT and Group 2/TAT. Ninety patients were included in the study (24 with TT and 66 with TAT). The peak incidence of TT was significantly higher than in the TAT group (p<0.001). Scrotal pain was more prevalent in the TAT group (p=0.02), whereas systemic signs (nausea/vomiting and abdominal pain) affected more frequently the TT patients (p=0.003 and p<0.001, respectively). The duration of symptoms was significantly longer in the TAT group (p<0.001). The duration of symptoms in the TT cohort significantly impacted the testicular salvage (p=0.008). Color Doppler ultrasound (CDUS) findings of absent/decreased testicular blood flow in the affected testis strongly favored the diagnosis of TT (p<0.001). The older age, shorter duration of symptoms, systemic signs, and CDUS findings can help distinguish between the two most common acute scrotum causes.

• MeSH
• apendix * MeSH
• demografie MeSH
• dítě MeSH
• lidé MeSH
• retrospektivní studie MeSH
• testis diagnostické zobrazování   MeSH
• torze semenného provazce * diagnóza   chirurgie   MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

• Publikační typ
• úvodníky MeSH

INTRODUCTION: Gastric acidity plays an important role in the protection of infants against various pathogens from the environment. The histamine-2 receptor blockers (H2-blockers) are off-labeled drugs that are frequently prescribed in preterm neonates to prevent stress ulcers. The impact of the H2-blockers on the development of the necrotizing enterocolitis (NEC) in preterm infants is still controversial, particularly in the developing world. MATERIALS AND METHODS: One hundred twenty-two preterm infants were enrolled in the study. The multivariate logistic regression model was used to identify potential postnatal risk factors associated with NEC. RESULTS: Preterm infants (n = 51) with total NEC, medical NEC, and surgical NEC had the highest rate of receiving ranitidine compared with controls (n = 71) (39.2%, 19.6%, and 47.6%, p < 0.05). Logistic regression analysis revealed that ranitidine use and nosocomial infections were significantly associated with NEC development (odds ratios 1.55 and 3.3). CONCLUSIONS: We confirm that ranitidine administration was associated with an increased risk of NEC in preterm infants. H2-blockers use should be only administered in very strictly selected cases after careful consideration of the risk-benefit ratio.

• MeSH
• infekce spojené se zdravotní péčí komplikace   MeSH
• kritický stav MeSH
• lidé MeSH
• nekrotizující enterokolitida chemicky indukované   MeSH
• nemoci novorozenců MeSH
• novorozenec MeSH
• peptický vřed prevence a kontrola   MeSH
• protivředové látky aplikace a dávkování   škodlivé účinky   MeSH
• ranitidin aplikace a dávkování   škodlivé účinky   MeSH
• studie případů a kontrol MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• novorozenec MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

OBJECTIVE: Metastatic Leydig cell tumors (LCT) are rare, difficult-to-treat malignancies without known underlying molecular-genetic events. An index case of metastatic LCT showed an LDLR-TERT gene fusion upon routine genetic profiling for detection of therapeutic targets, which was then followed by an investigation into a cohort of additional LCTs. PATIENTS AND METHODS: Twenty-nine LCT (27 male and 2 female patients) were profiled using next-generation sequencing and immunohistochemistry. RESULTS: TERT gene fusions were detected only in testicular metastatic LCTs, in 3 of 7 successfully analyzed cases (RMST:TERT, LDLR:TERT, and B4GALT5:TERT). TOP1 and CCND3 amplifications were identified in the case with a B4GALT5:TERT fusion. A TP53 mutation was detected in 1 metastatic tumor without a TERT fusion. Five primary (4 testicular and 1 ovarian) LCTs showed multiple gene amplifications, without a consistent pattern. A single metastatic ovarian LCT showed BAP1 mutation and copy number amplifications affecting the NPM1, PCM1, and SS18 genes. At the protein level, 4 of 7 metastatic and 6 of 10 primary testicular LCTs overexpressed Topo1. Androgen receptor was overexpressed in 10 of 13 primary testicular tumors and 2 of 5 metastatic testicular LCTs (without detectable ARv7 messenger RNA or ARv7 protein). Only 1 metastatic testicular LCT exhibited a high tumor mutational burden; all tested cases were microsatellite instability stable and did not express programmed cell death ligand 1. CONCLUSIONS: Our study for the first time identified TERT gene fusions as a main genetic alteration and a potential therapeutic target in metastatic LCTs. Topo1 and androgen receptor may guide decisions on chemotherapy and/or hormone therapy for selected individual patients.

• MeSH
• fúze genů MeSH
• imunohistochemie MeSH
• lidé MeSH
• nádor z Leydigových buněk * MeSH
• nádorové supresorové proteiny MeSH
• telomerasa * genetika   MeSH
• testikulární nádory * genetika   MeSH
• thiolesterasa ubikvitinu MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

Penile torsion is a rare congenital anomaly that is usually characterized by a counterclockwise rotation of the penile shaft or glans. Although several surgical techniques for its correction have been proposed, the consensus of choosing the most efficient technique remains controversial. Herein, we report our operational approach that successfully corrected a severe (>90 degrees) isolated penile torsion in the form of penile degloving and dorsal dartos flap rotation surgery.

• MeSH
• chirurgické laloky * MeSH
• dítě MeSH
• lidé MeSH
• penis abnormality   chirurgie   MeSH
• torzní deformity chirurgie   MeSH
• urogenitální abnormality chirurgie   MeSH
• zákroky plastické chirurgie metody   MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH

Encapsulating peritoneal sclerosis (EPS) is a rare life-threatening complication associated with peritoneal dialysis (PD). EPS is characterized by progressive fibrosis and sclerosis of the peritoneum, with the formation of a membrane and tethering of loops of the small intestine resulting in intestinal obstruction. It is very rare in children. We present a case of a 16-year-old adolescent boy who developed EPS seven years after being placed on continuous ambulatory peritoneal dialysis (CAPD) complicated by several episodes of bacterial peritonitis. The diagnosis was based on clinical, radiological, intraoperative and histopathological findings. The patient was successfully treated with surgical enterolysis. During a 7-year follow-up, there have been no further episodes of small bowel obstruction documented. He still continues to be on regular hemodialysis and is awaiting a deceased donor kidney transplant. EPS is a long-term complication of peritoneal dialysis and is typically seen in adults. Rare cases may be seen in the pediatric population and require an appropriate surgical approach that is effective and lifesaving for these patients.

• MeSH
• dítě MeSH
• dospělí MeSH
• kontinuální ambulantní peritoneální dialýza * škodlivé účinky   MeSH
• lidé MeSH
• mladiství MeSH
• peritoneální dialýza * škodlivé účinky   MeSH
• peritoneální fibróza * diagnóza   etiologie   patologie   MeSH
• peritoneum patologie   MeSH
• peritonitida * diagnóza   etiologie   patologie   MeSH
• Check Tag
• dítě MeSH
• dospělí MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH

BACKGROUND: Primary Extra-mammary Paget's disease (EMPD) is a very rare cutaneous adenocarcinoma affecting anogenital or axillary regions. It is characterized by a prolonged course with recurrences and eventually distant metastatic spread for which no specific therapy is known. METHODS: Eighteen EMPD (13 vulvar and five scrotal) and ten mammary Paget's disease (MPD) cases were comprehensively profiled for gene mutations, fusions and copy number alterations, and for therapy-relevant protein biomarkers). RESULTS: Mutations in TP53 and PIK3CA were the most frequent in both cohorts: 7/15 and 5/15 in EMPD; 1/6 and 4/7 in MPD HER2 gene amplification was detected in 4/18 EMPD (3 vulvar and 1 scrotal case) in contrast to MPD where it was detected in the majority (7/8) of cases. TOP2A gene amplification was seen in 2/12 EMPD and 1/6 MPD, respectively. Similarly, no difference in estrogen receptor expression was seen between the EMPD (4/15) and MPD (3/10). Androgen receptor was also expressed in the majority of both cohorts (12/16 EMPD) and (7/8 MPD).Here ARv7 splice variant was detected in 1/7 EMPD and 1/4 MPD cases, respectively. PD-L1 expression on immune cells was exclusively observed in three vulvar EMPD. In contrast to MPD, six EMPDs harbored a "high" tumor mutation burden (≥10 mutations/Mb). All tested cases from both cohorts were MSI stable. CONCLUSIONS: EMPD shares some targetable biomarkers with its mammary counterpart (steroid receptors, PIK3CA signaling pathways, TOP2A amplification). HER2 positivity is notably lower in EMPD while biomarkers to immune checkpoint inhibitors (high TMB and PD-L1) were observed in some EMPD. Given that no consistent molecular alteration characterizes EMPD, comprehensive theranostic profiling is required to identify individual patients with targetable molecular alterations.

• MeSH
• amplifikace genu MeSH
• cílená molekulární terapie MeSH
• dospělí MeSH
• extramamární Pagetova nemoc farmakoterapie   genetika   patologie   MeSH
• individualizovaná medicína MeSH
• kůže patologie   MeSH
• lidé středního věku MeSH
• lidé MeSH
• mikrosatelitní nestabilita MeSH
• mutace MeSH
• nádorové biomarkery antagonisté a inhibitory   genetika   metabolismus   MeSH
• nádory kůže farmakoterapie   genetika   patologie   MeSH
• nádory prsu farmakoterapie   genetika   patologie   MeSH
• Pagetova nemoc prsu farmakoterapie   genetika   patologie   MeSH
• protokoly protinádorové kombinované chemoterapie farmakologie   terapeutické užití   MeSH
• prsy patologie   MeSH
• retrospektivní studie MeSH
• sekvenční analýza DNA MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• skrotum patologie   MeSH
• variabilita počtu kopií segmentů DNA MeSH
• vulva patologie   MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• srovnávací studie MeSH

The authors present a distinctive perineurioma (PN) variant which morphologically strongly resembles monophasic fibrous synovial sarcoma (MSS). The patients were 3 males and 1 female. The age ranged from 15 to 61years (mean: 44years). Locations included the sole, lower jaw, palm and foot. The tumor size ranged from 1.3cm to 2.5cm in the largest dimension (mean 1.8cm). Morphologically, all tumors had an identical, monotonous appearance. The perineurial cells were closely packed and created a confluent cellular whorls and/or sheets in a scarce stroma, with only focally discernible long, slender cytoplasmic processes typical for perineurial differentiation. The nuclei were rounded or slightly elongated to tapered, without nuclear atypia. Mitoses were rare to completely absent. Atypical mitoses, hemorrhage, necrosis or calcifications were not present. The proliferative index (Ki-67) was 1-3%. All analyzed tumors were positive for EMA, Claudin-1, GLUT-1 and negative with S100 protein, CD34, OSCAR, CK7 and TLE-1. Two cases were tested by fluorescence in situ hybridization and neither showed alterations of the SYT gene. One case studied by electron microscopy showed characteristic features of perineurial differentiation. Follow-up was available for two patients both of which showed no evidence of disease at 8years and 6months, respectively. Based on their bland morphology, perineurial features and presumably benign clinical outcome we propose the term "whorling cellular perineurioma" for these tumors, which may represent an extremely cellular variant of sclerosing PN. Awareness of this PN subtype and its distinction from MSS is of utmost clinical significance.

• MeSH
• diferenciální diagnóza * MeSH
• dospělí MeSH
• imunohistochemie metody   MeSH
• lidé středního věku MeSH
• lidé MeSH
• nádorové biomarkery metabolismus   MeSH
• nádory nervové pochvy diagnóza   metabolismus   MeSH
• synoviom diagnóza   patologie   MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

Oncocytic papillary renal cell carcinoma (PRCC) is a distinct subtype of PRCC, listed as a possible new variant of PRCC in the 2016 WHO classification. It is composed of papillae aligned by large single-layered eosinophilic cells showing linearly arranged oncocytoma-like nuclei. We analyzed clinicopathologic, morphologic, immunohistochemical and molecular-genetic characteristics of 11 oncocytic PRCCs with prominent tumor lymphocytic infiltrate, morphologically resembling Warthin's tumor. The patients were predominantly males (8/11, 73%), with an average age of 59years (range 14-76), and a mean tumor size of 7cm (range 1-22cm). Tumors had the features of oncocytic PRCCs with focal pseudostratification in 8/11 cases and showed dense stromal inflammatory infiltration in all cases. Papillary growth pattern was predominant, comprising more than 60% of tumor volume. Tubular and solid components were present in 5 and 3 cases, respectively. Uniform immunohistochemical positivity was found for AMACR, PAX-8, MIA, vimentin, and OSCAR. Tumors were mostly negative for carboanhydrase 9, CD117, CK20, and TTF-1. Immunohistochemical stains for DNA mismatch repair proteins MLH1 and PMS2 were retained in all cases, while MSH2 and MSH6 were negative in 1 case. Tumor infiltrating lymphocytes (TILs) consisted of both B and T cells. Chromosomal copy number variation analysis showed great variability in 5 cases, ranging from a loss of one single chromosome to complex genome rearrangements. Only one case showed gains of chromosomes 7 and 17, among other aberrations. In 4 cases no numerical imbalance was found. Follow up data was available for 9 patients (median 47.6months, range 1-132). In 6 patients no lethal progression was noted, while 3 died of disease. In conclusion, Warthin-like PRCC is morphologically very close to oncocytic PRCC, from which it differs by the presence of dense lymphoid stroma. Chromosomal numerical aberration pattern of these tumors is variable; only one case showed gains of chromosomes 7 and 17. Warthin-like PRCC is a potentially aggressive tumor since a lethal outcome was recorded in 3/9 cases.

• MeSH
• genetická predispozice k nemoci MeSH
• genetické testování metody   MeSH
• hybridizace in situ fluorescenční metody   MeSH
• imunohistochemie metody   MeSH
• karcinom z renálních buněk diagnóza   genetika   patologie   MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• nádorové biomarkery analýza   MeSH
• nádory ledvin diagnóza   genetika   patologie   MeSH
• oxyfilní adenom genetika   patologie   MeSH
• papilární karcinom genetika   patologie   MeSH
• senioři MeSH
• variabilita počtu kopií segmentů DNA genetika   MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

• MeSH
• diferenciální diagnóza MeSH
• imunohistochemie * metody   MeSH
• karcinom z renálních buněk diagnóza   patologie   MeSH
• karcinom diagnóza   patologie   MeSH
• ledviny patologie   MeSH
• lidé MeSH
• nádory ledvin diagnóza   patologie   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• přehledy MeSH