Introduction. Human papillomavirus (HPV) causes juvenile-onset recurrent respiratory papillomatosis (JORRP). Although HPV is common in children, the prevalence of JORRP is low. It is likely that other factors contribute to the pathogenesis of JORRP, during either activation or reactivation of a latent HPV infection. There is evidence that laryngopharyngeal reflux (LPR) might be such a risk factor for adult-onset recurrent respiratory papillomatosis. This study investigated if LPR might also be a risk factor for JORRP. Materials and Methods. Children with JORRP of the larynx that required microlaryngoscopy at a tertiary referral hospital were included in this prospective case-series study from November 2015 to November 2017. Using immunohistochemistry, HPV infection and pepsin associated with LPR were diagnosed from laryngeal biopsies. Results. Eleven children (aged 4-14 years) were analyzed. No patient had a history of immunodeficiency or tobacco smoke exposure. All patients underwent at least three previous surgeries due to JORRP and had been vaccinated against HPV in the past. Five children were treated using antivirotics and immunomodulators. The only known maternal risk factor was that three mothers were primiparous. All 11 samples were infected with HPV (type 6 or 11). Pathologic LPR was diagnosed in 5/11 children (45.5%). Conclusion. LPR may be a risk factor for JORRP, contributing to its development by activating or reactivating a latent HPV infection. Results are in accordance with those from our previous study in adults.

Objective:Recently, a 24-h impedance was used to detect laryngopharyngeal reflux (LPR). However, not every case of LPR is pathological. Thus, pathological pharyngeal impedance values need to be clearly established to diagnose pathological LPR. The aim of our study was to establish pathological 24-h pharyngoesophageal impedance/pH values for the diagnosis of LPR.Methods:The study was conducted in a tertiary care setting. A total of 30 patients who were referred to microlaryngoscopy for a laryngeal pathology that might be caused by LPR were included in this prospective study. All patients were off proton-pump inhibitor therapy. The 24-h pharyngoesophageal impedance–pH monitoring was performed 1 day before surgery. A biopsy of laryngeal tissue was obtained during microlaryngoscopy and was analyzed by immunohistochemistry to detect pepsin. The patients were divided into two groups: pepsin negative and pepsin positive (which indicated pathological LPR). The results of 24-h multichannel intraluminal impedance–dual-channel pH monitoring were compared between the groups. The number of LPR episodes in the pepsin-positive group was analyzed to establish a cutoff value for pathological LPR.Results:There were 18 participants in the pepsin-negative group and 12 in the pepsin-positive group. The median total pharyngeal refluxes detected were two (0–5) in the pepsin-negative group and 14 (6–39) in the pepsin-positive group (P<0.001), although the groups were otherwise homogeneous. There was a statistically significant difference in the number of all types of refluxes between groups. Six or more pharyngeal refluxes were the cutoff for the presence of pepsin in the laryngeal mucosa and, thereby, for the diagnosis of relevant/pathological LPR.Conclusion:Six or more pharyngeal reflux episodes registered during the 24-h impedance/pH monitoring seem to be the cutoff for diagnosing pathological LPR. Therefore, it is possible to suggest establishing this value as the pathological impedance value indicating pathological LPR. These results must be interpreted with caution due to the small sample size.

No abstract

Objectives. Detection of extraesophageal reflux (EER) in children with chronic otitis media with effusion (OME) using three different diagnostic methods. Methods. Children between 1 and 7 years with OME who underwent adenoidectomy and myringotomy with insertion of a ventilation tube were included in this prospective study. EER was detected using three methods: oropharyngeal pH was monitored for 24 hours using the Restech system; detection of pepsin in middle ear fluid obtained during myringotomy was done using Peptest, and detection of pepsin in an adenoid specimen was done immunohistochemically. Results. Altogether 21 children were included in the study. Pathological oropharyngeal pH was confirmed in 13/21 (61.9%) children. Pepsin in the middle ear fluid was present in 5/21 (23.8%) children; these 5 patients were diagnosed with the most severe EER established through monitoring of oropharyngeal pH. No specimen of adenoids tested was positive for pepsin upon immunohistochemical examination. Conclusions. Diagnosis of EER in patients with OME using Restech is sensitive but less specific when compared to the detection of pepsin in middle ear fluid using Peptest. Pepsin in the middle ear was consistently present in patients with RYAN score above 200, and these patients in particular could potentially profit from antireflux therapy.

Background. The objective of the study was to report a rare case of primary neuroendocrine carcinoma of the right kidney in a 36 year old male. Methods. The patient was clinically assessed; CT and OctreoScan scintigraphy were performed and levels of 5-HIAA, vanillylmandelic acid and NSE were determined. The tumor and metastases were histologically and immunohistochemically examined. Results. The imaging methods showed a cystic tumor in the lower pole of the right kidney. Macroscopically, the entire tumor was sized 8x8x7 cm. Histologically, it was made up of ribbon-line or trabecular patterns of tumor cells. Occasional adenomatoid and cystic structures were present. The tumor cell nuclei were round or oval, with no irregularities and fine lumpy chromatin. The mitotic count was < 1 /10HPF and the proliferation marker Ki-67 was < 1 % of tumor cells. Immunohistochemically, the tumor cells were positive with antibodies against chromogranin A, synaptophysin, CD56 (focally), cytokeratins AE1-AE3 (focally), vimentin (most cells), glucagon (focally), and pancreatic polypeptide (PP; focally). Antibodies against serotonin, somatostatin, gastrin, vasoactive intestinal polypeptide (VIP) and calcitonin did not react with the tumor. The results of biochemical markers (5-HIAA, vanillylmandelic acid and NSE) did not correlate with development or treatment of the tumor. Conclusions. Primary neuroendocrine carcinoma of the kidney was diagnosed both histologically and immunohistochemically. The patient was clinically investigated using CT and OctreoScan scintigraphy. Within two years from nephrectomy, metastases were found in the right humerus and retrocaval lymph nodes. The metastatic lesions were surgically removed. Currently, the patient's condition is good, with no tumor progression detected.

The well-described disparity between the need for and the supply of organs suitable for transplant is growing. Because of this disparity, mortality of patients listed for transplant is increasing. Donors who die of intoxication (including victims of methanol poisoning) represent less than 1% of suitable donors and might be used to increase the supply of organs. They are often not accepted as donors by transplant specialists, because of concerns about patients' outcomes with these grafts. Three cases of fatal methanol intoxication that resulted in transplants of 6 kidneys are evaluated.

No abstract

Cardiofaciocutaneous (CFC) syndrome is a rare genetic disease characterized by congenital heart diseases, dysmorphic craniofacial features and ectodermal abnormalities. It is due to mutation in the BRAF, MAP2K1, MAP2K2 or KRAS gene. So far all the cases have been of sporadic occurrence due to de novo dominant mutations. Therefore, prenatal diagnosis relies on ultrasound suspicion followed by genetic confirmation. Prenatal ultrasound findings, including increased nuchal translucency (NT) or cystic hygroma in the first trimester and mild pyelectasis, mild ventriculomegaly, macrosomia, relatively short femur and polyhydramnios in the second trimester, have only been described retrospectively after postnatal diagnosis. We describe the prenatal ultrasound features of a prenatally diagnosed case of CFC due to heterozygous mutation in the BRAF gene. A huge NT of 9.5 mm was found with normal karyotype and array CGH study. Ultrasound examination at 18 weeks showed macrocephaly and macrosomia with an average femur length, thick nuchal fold with distended jugular lymphatic sacs, cerebellar vermian hypoplasia and bilateral mild pyelectasis. Three-dimensional (3D) study of the fetal face showed laterally downward slanting palpebral fissures, low set posteriorly rotated ears and broad nose with bulbous nasal tip. Being prenatally diagnosed, our case allowed a more thorough ultrasound examination, including 3D study, of the fetus and thus a more detailed description of the prenatal features of CFC. Increased NT or cystic hygroma in the first trimester and macrosomia, macrocephaly, pyelectasis, brain abnormalities and polyhydramnios in the second trimester seem to be common prenatal findings in CFC. Hopefully more cases reported in future will allow determination of a set of prenatal ultrasound features specific to CFC. As CFC is phenotypically similar to Noonan and Costello syndrome, simultaneous genetic testing for these closely related syndromes may improve the diagnostic yield. We present a rare case of prenatally diagnosed tracheal atresia in one of the fetuses of twin pregnancy. During routine 2nd trimester scan of otherwise normal dichorionic twin pregnancy, bilateral and uniform hyperechogenicity of fetal thorax, ascites, pulmonary hyperplasia, diaphragmatic eversion, mediastinal compression with large heart vessels, hydrops and polyhydramnios in one of the fetuses were noted leading us to working diagnosis of laryngeal atresia. Later an increase of ascites was observed and affected fetus died in utero at 31 weeks. The second twin was developing well and delivered by CS at 34 weeks (boy, 1700 g) due to spontaneous onset of delivery. The affected fetus (girl, 1440 g) was on autopsy diagnosed with tracheomalacia and tracheal atresia just above the level of anticipated branching into the bronchi. P07.03 Prenatally diagnosed tracheal atresia in twin pregnancyTracheal atresia and other types of breathing tubes occlusion are very rare birth defects. About 50-90% of all cases are associated with other fatal congenital defects....