Search

The development of diagnostic tools has caused a rapid increase in the amount of information generated and presented, necessitating the use of computer displays as an interface to data presentation and the use of modern diagnostic tools. The paper presents methods for testing usability that can be used in designing and improving the quality of interfaces of modern diagnostic tools that use communication through graphical user interfaces.

Greater awareness of possible iatrogenic esophageal perforation (EP) is needed. Though rare, EP is a legitimate health risk as it may lead to long-term morbidities. This study presents and discusses iatrogenic EP in a subset of preterm infants. Using radiographic images, we study and describe the consequences of the orogastric/nasogastric tube position (in radiographic images). We analyze the possible influence of histological chorioamnionitis on the development of esophageal perforation. This retrospective study examines the hospital records of 1149 preterm infants, 2009-2016, with very low birth weight (VLBW) and iatrogenic EP, comparing mortalities and morbidities between the two groups of preterm infants who had birth weights (BWs) of less than 750 g and were less than 27 weeks gestation age at birth: one group with iatrogenic esophageal perforation (EP group) and one group without perforation (non-EP group-the control group). Histopathological chorioamnionitis of the placenta showed no statistically significant differences between the groups. The only statistically significant difference was in the air leaks ( p = 0.01). Three types of nasogastric tube (NGT) X-ray location were identified, depending on the place of the perforation: (1) high position below the carina mimicking esophageal atresia; (2) low, intra-abdominal; (3) NGT right pleura-directed. We also highlight the particular symptoms that may be indicative of EP due to a displacement of the nasogastric tube.

Encephalitis is a condition with a variety of etiologies, clinical presentations, and degrees of severity. The causes of these disorders include both neuroinfections and autoimmune diseases in which host antibodies are pathologically directed against self-antigens. In autoimmune encephalitis, autoantibodies are expressed in the central nervous system. The incidence of this disease is approximately 4% of all reported cases of encephalitis. Autoimmune encephalitis can be induced by antibodies against neuronal surface antigens such as N-methyl-D-aspartate-activated glutamate receptors (NMDAR), α-amino-3-hydroxy-5-methyl-4-isoxazole propionate receptors (AMPAR) or gangliosides GQ1b, DPPX, CASPR2, LGI1, as well as by antibodies against neuronal intracellular antigens. The paper presents a number of both mental and neurological symptoms of autoimmune encephalitis. Moreover, the coexistence of psychoses, neoplastic diseases, and the methods of diagnosing autoimmune encephalitis are discussed. Attention was also drawn to the fact that early diagnosis, as well as early initiation of targeted treatment, increases the chance of a successful course of the therapeutic process. Strategy and Methodology: The articles on which the following paper was based were searched using search engines such as PubMed and Medline. Considering that anti-NMDAR antibodies were first described in 2007, the articles were from 2007 to 2023. The selection of papers was made by entering the phrases "autoimmune encephalitis and psychosis/paraneplastic syndromes or cancer". The total number of articles that could be searched was 747, of which 100 items were selected, the most recent reports illustrating the presented topic. Thirty-four of them were rejected in connection with case reports or papers that could not be accessed.

Objective: Thyroid disorders are commonly concomitant with premature birth; however, indications to start therapy remain unclear due to a lack of gestational age (GA)-specific reference ranges. We aimed to evaluate the age-specific thyroid-stimulating hormone (TSH), free thyroxine (FT4) levels and the correlation between TSH and FT4 serum levels and ultrasound thyroid volume in preterm infants., Materials and Methods: This was an observational, prospective, single-center study of 98 preterm infants born before 33 weeks GA. The infants were divided into the 24-28 weeks and 29-32 weeks GA groups. TSH and FT4 serum levels were measured at two time points: at postnatal age (PNA) 2 weeks and at postmenstrual age (PMA) 32 weeks; the results were compared between groups at two consecutive time points., Results: There was a statistically significant between-group difference in FT4 concentration. There was a positive correlation between FT4 and GA at both screening times. FT4 in the 24-28 weeks GA group was significantly lower than in the 29-32 weeks GA group. The mean (standard deviation [SD]) FT4 at PNA 2 weeks was 11.72 ± 2.16 pmol/l for the 24-28 weeks GA group vs. 13.33 ± 1.80 pmol/l for the 29-32 weeks GA group (p<0.001). The mean (SD) FT4 at PMA 32 weeks was 11.96 ± 1.98 pmo/l for the 24-28 weeks GA group vs. 13.33 ± 1.80 pmol/l for the 29-32 weeks GA group (p=0.001). Our results reflect a slow and gradual upward trend of FT4 in the 24-28 weeks GA. It is of interest that the correlation between thyroid volume and FT4 was statistically significant (rho=0.25, p=0.019) for all studied preterm infants. The correlation between thyroid volume and weight was statistically significant for the entire study group (rho=0.37, p<0.001). We did not find statistically significant differences in TSH and FT4 values between consecutive time points at 24-28 weeks GA. The thyroid volume was not significantly different between both groups. The total thyroid volume was 0.26 vs. 0.27 ml for the 24-28 and 29-32 weeks GA groups, respectively., Conclusion: The results of this study indicate that preterm infants require lower FT4 values depending on GA. Moreover, ultrasound thyroid imaging may facilitate the evaluation of questionable thyroid disorders., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Mikołajczak, Kufel and Bokiniec.)

Congenital microcephaly causes smaller than average head circumference relative to age, sex and ethnicity and is most usually associated with a variety of neurodevelopmental disorders. The underlying etiology is highly heterogeneous and can be either environmental or genetic. Disruption of any one of multiple biological processes, such as those underlying neurogenesis, cell cycle and division, DNA repair or transcription regulation, can result in microcephaly. This etiological heterogeneity manifests in a clinical variability and presents a major diagnostic and therapeutic challenge, leaving an unacceptably large proportion of over half of microcephaly patients without molecular diagnosis. To elucidate the clinical and genetic landscapes of congenital microcephaly, we sequenced the exomes of 191 clinically diagnosed patients with microcephaly as one of the features. We established a molecular basis for microcephaly in 71 patients (37%), and detected novel variants in five high confidence candidate genes previously unassociated with this condition. We report a large number of patients with mutations in tubulin-related genes in our cohort as well as higher incidence of pathogenic mutations in MCPH genes. Our study expands the phenotypic and genetic landscape of microcephaly, facilitating differential clinical diagnoses for disorders associated with most commonly disrupted genes in our cohort.

Cesarean section is the most commonly performed procedure all over the world. Both American and European data reveal constant and steady increase of pregnancies resolved by a cesarean section. The reasons include: growing number of medical indications or requests of the pregnant women. Regardless of the fact that elective cesarean section decreases the risk of intrauterine hypoxia, meconium aspiration and injury during labor it remains a significant risk factor for respiratory failure in the course of transient tachypnea of the newborn, infant respiratory distress syndrome and pulmonary hypertension, both for term and late preterm infants. As a consequence, the infant requires a prolonged stay in the intensive care unit, together with advanced and often expensive medical procedures such as mechanical (often high-frequency) ventilation, nitric oxide therapy and extracorporeal membrane oxygenation. The American Association of Obstetricians and Gynecologists and the European Association of Perinatal Medicine recommend for a cesarean section due to medical indications to be performed after 39 weeks gestation, preferably after uterine contractions started, and elective cesarean section, particularly if there are indications to finish the pregnancy before 39 weeks gestation, after lung maturity has been assessed (in other case steroids ought to be administered prenatally to mature the lung muscles). That includes also cases of elective cesarean sections performed due to previous cesarean sections, which are the most frequent reasons for repeating procedure. The recommendations also restrict the indications for cesarean section in case of significant prematurity what in turn is connected with more restricted indications for resuscitation of extremely premature infants and babies with extremely low birth weight.

Consumption of the phytoestrogen lignans, structurally similar to estrogen, has been associated with alterations in gene expression and estrogen metabolism. Furthermore, lignan consumption, subsequent changes in metabolizing enzyme expression, and genetic variability in these enzymes may alter estrogen metabolism and modify disease risk. Therefore, we investigated the effect of flaxseed on hydroxyestrone metabolite excretion by catechol-O-methyltransferase (COMT) and cytochrome P450 1B1 (CYP1B1) genotype. We conducted an intervention among 132 healthy, postmenopausal women, ages 46 to 75 years. Participants consumed 10 g ground flaxseed daily for 7 consecutive days. Blood and urine samples were collected at baseline and after the 7-day intervention. COMT Val(158)Met and CYP1B1 Leu(432)Val genotypes were determined using PCR-RFLP methods. Urinary 2-hydroxyestrone (2OHE1) and 16alpha-hydroxyestrone (16OHE1) were quantified by ELISA assay. The effect of genotype on intervention-related changes in estrogen metabolites was assessed with the Kruskal-Wallis test. Compared with baseline levels, postintervention levels of urinary 2OHE1 (ng/mg creatinine; mean +/- SD, 16.1 +/- 10.6 versus 9.3 +/- 6.9, postintervention and baseline, respectively; P < 0.01) and 2OHE1/16OHE1 ratios (mean +/- SD, 2.73 +/- 1.47 versus 1.54 +/- 0.75, postintervention and baseline, respectively; P < 0.01) were significantly higher. The change in 2OHE1/16OHE1 increased with increasing numbers of variant alleles for COMT (mean change: Val/Val, 0.90; Val/Met, 1.15; and Met/Met, 1.50; P = 0.17, Kruskal-Wallis) and especially CYP1B1 (mean change: Leu/Leu, 0.89; Leu/Val, 1.32; and Val/Val, 1.51; P = 0.04, Kruskal-Wallis). Our findings suggest that variation in hormone-related genes may modify the effect of dietary lignan exposures on estrogen metabolism.