Routine use of automated FiO2 control in Poland: prospective registry and survey.

Objective: The performance of automated control of inspired oxygen (A-FiO2) has been confirmed in dozens of studies but reports of routine use are limited. Broadly adopted in Poland, our aim is to share that experience. Methods: We used a prospectively planned observational study of the performance, general use patterns, unit practices, and problems with A-FiO2, based on a web registry of case reports, complemented by surveys of subjective impressions. Results: In 2019, a total of 92 A-FiO2 systems were in routine use in 38 centers. Of the 38 centers, 20 had agreed in 2013 to participate in the project. In these centers, A-FiO2 was applied in infants of all weights, but some centers restricted its use to weaning from oxygen and unstable infants. A cohort had reported their experience with each use (5/20 centers, 593 cases). A quarter of those infants were managed with a lower target range and three-quarters with alarms looser than European guidelines for manual SpO2 control. The perceived primary advantages of A-FiO2 were as follows: keeping the readings in the target range, reducing exposure to SpO2 extremes, reducing risk from nurse distraction, reducing workload, and reducing alarm fatigue. Practices did evolve with experience, including implementing changes in the alarm strategy, indications for use, and target range. The potential for over-reliance on automation was cited as a risk. There were a few reports of limited effectiveness (moderate 12/593 and poor 2/593). Conclusions: Automated oxygen control is broadly perceived by users as an improvement in controlling SpO2 with infrequent problems.

Detection of human papillomavirus types 16 and 18 in human neoplastic endometrium: lack of correlation with established prognostic factors.

HPV (types 16 and 18) DNA sequences are present in the majority of precancerous and cancerous lesions of the human uterine cervix. However, data concerning the involvement of HPVs infection in the pathogenesis of endometrial cancer are controversial. In the current study we investigated the frequency of the HPV types 16 and 18, detected by PCR amplification using the type 16- and 18-specific primers within the E7 Open Reading Frame (ORF) sequence, in 54 human endometrial carcinomas obtained from women of Polish origin. Moreover, we assessed the possible association of the HPV with the clinicopathological features of the cancer, patients' outcome as well as with the K-ras codon 12 gene point mutations. HPV type 16 was present in eleven out of 54 (20%) endometrial tumors, while HPV type 18 was detected only in three out of 54 (4%) neoplasms analyzed. HPV infection was not related either to the patients' age (r=0.11; p=0.428, Spearman correlation test) or to the clinicopathological parameters and patients' prognosis. A higher incidence of HPV 16/18 was detected in well (G1) differentiated than in moderately (G2) and poorly (G3) differentiated endometrial adenocarcinomas, but the difference was not statistically significant. Moreover, none of HPV-positive endometrial carcinomas harbored K-ras codon 12 gene point mutations. Our results suggest that some of the endometrial carcinomas are associated with HPV infection but the presence of the human papillamovirus types 16/18 is not related to the clinicopathological or prognostical features of the neoplasm.

Detection of CFTR gene mutations in patients suffering from chronic bronchitis.

BACKGROUND: The purpose of the study was to examine cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in patients suffering from chronic bronchitis. METHODS: Thirty-two patients admitted to the Department of Pulmonology, Lublin School of Medicine, Lublin, Poland between 1995 and 1996 due to chronic bronchitis were included in the study. Patients were analyzed for the eight most common mutations of the CFTR gene (DeltaF508, G542X, N1303K, 1717-1(GoA)), W1282X, G551D, R553X, and DeltaI507 by the reverse-hybridization method. RESULTS: CFTR gene mutations were found in five of 32 (16%) patients, all within the DeltaF508 region of the CFTR gene. All positive samples were obtained from patients heterozygous for the DeltaF508 mutation. The presence of the DeltaF508 mutation was considered statistically significant when our study group was compared to the study of Poland's general population (p <0.05 Fisher's exact test). CONCLUSION: Our results suggest there is an increased presence of the DeltaF508 point mutation of the CFTR gene in Polish patients suffering from chronic bronchitis.

[Neurofibromatosis type 1 --Recklinghausen's disease; pathogenesis and clinical symptoms]. / Nerwiakowlókniakowatosc typu 1--choroba Recklinghausena; patogeneza i klinika.

Neurofibromatosis type 1 (NF1) or von Recklinghausen neurofibromatosis is a common autosomal dominant disorder affecting 1 in 3000 individuals. The gene for NF1 is localized on chromosome 17q11.2. The gene mutations or the inactivation its protein product--neurofibromin are responsible for the manifestation of the disease. NF1 demonstrates a wide variability of clinical symptoms classified by NIH Consensus Conference in 1987.

[Use of polymerase chain reaction for pediatric diagnosis]. / Zastosowanie reakcji PCR w diagnostyce pediatrycznej.

Basic principles of main molecular biology techniques: polymerase chain reaction (PCR) and its variants; asymmetric PCR, ARMS, nested PCR, multiplex PCR and competitive PCR are discussed. Nucleic acids techniques are making increasing progress in molecular diagnostics. Sequence analysis of amplified DNA allows better identification of the pathogen, detection of mutant genes and more accurate prognosis and therapy of certain diseases.

[The detection of CFTR gene mutation in patients with azoospermia]. / Identyfikacja mutacji genu CFTR u mezczyzn z azoospermia.

Cystic fibrosis (CF) is the most common autosomal recessive disorder in Caucasian population that involves the lungs, pancreas, sweat glands, intestine, liver and reproductive tract. The majority of men with CF are infertile due to a bilateral congenital absence of the vas deferens (CBAVD). The purpose of the research was to evaluate the occurrence frequency of alleles of CFTR gene in patients with azoospermia. Twenty four men from sterile marriages were examined in whom spermatozoa were not found in 2-3 successive examinations of their semen. In every patient the basic concentration in blood of FSH, LH, PRL and testosterone was determined and ultrasonography of gonads, vas deferens, prostate and spermatic vesicles was performed. The INNO-LIPA CF2 test was used to the screening for the eight most frequently identified mutations in Caucasian population: DF508, G542X, N1303K, 1717-1(G- > A), W1282X, G551D, R553X i DI507. The test is based on the reverse-hybridization method. Carrier-state of one mutated allele was detected in 3 men (12.5% examined causes). In two men DF508 mutation and in one W1282X mutation were detected. The data suggest that the CFTR protein may be involved in the process of spermatogenesis apart from playing a critical role in the development of the vas deferens.

K-ras gene point mutations in human endometrial carcinomas: correlation with clinicopathological features and patients' outcome.

In order to evaluate the role of K-ras gene point mutations in the progression of endometrial carcinoma, we applied the polymerase chain reaction/restriction-fragment-length polymorphism technique to 57 tumours surgically removed from women of Polish origin. We assessed the relationship between K-ras gene activation and clinicopathological features as well as patients' outcome. Mutational activation in codon 12 of the K-ras gene was detected in 8 out of 57 (14%) endometrial carcinomas, while in codon 13 of the K-ras gene no point mutations were noted. A correlation between the histological type of the tumour and codon 12 K-ras gene mutation was noted (P < 0.05; Fisher exact test). K-ras gene mutation was not related to the patients' age, surgical stage, histological grade or to the depth of myometrial invasion. A trend towards a poorer prognosis was noted during the follow-up of patients whose tumours had shown K-ras codon 12 point mutations, but the difference was not significant (P = 0.06; log-rank test). Our data indicate that point mutations in codon 12 of the K-ras gene are a rare event in human endometrial carcinomas. The lack of correlation between K-ras point mutations and clinicopathological features (except histological type) supports the hypothesis of a random activation of the K-ras gene in human neoplastic endometrium.

Detection of K-ras mutations in cancerous lesions of human endometrium.

The many genetic changes associated with human carcinogenesis include the activation and/or inactivation of various genes. Polymerase-chain reaction and single-strand conformation polymorphism analysis [PCR-SSCP] was used to detect alterations at exon 1 of the K-ras gene in 20 lesions of human endometrium. Six cases of endometrial hyperplasia, 13 of endometrial carcinoma and one of endometrial metastasis of ovarian cancer were analyzed. Mutations at exon 1 of the K-ras gene were detected in two of 13 human endometrial carcinoma [15%]; both were histologically defined adenocarcinomas, stage Ib and stage IIa according to the FIGO. Alterations were also observed in the single case of endometrial metastasis of ovarian cancer. It is worthy of note that among the six women with hyperplasic endometrial lesions K-ras gene mutation were not reported. These data suggest that K-ras activation is rare in Polish women and when it does occur it is in cancerous, but not in precancerous, lesions of human endometrium.