Two sisters reveal autosomal recessive inheritance of epidermodysplasia verruciformis: a case report

BACKGROUND: Epidermodysplasia verruciformis is a rare genodermatosis characterized by a unique susceptibility to cutaneous human papillomaviruses infection. Most patients show autosomal recessive patterns of inheritance. CASE PRESENTATION: We report a case of two sisters with clinically epidermodysplasia verruciformis specific lesions on the face, neck, trunk, and extremities. PCR analysis indicated the presence of human papillomavirus type 5 in the lesions. Electron microscopic examination showed viral-like particles in keratinocyte nuclei and the stratum corneum of the epidermodysplasia verruciformis lesions. In addition, we examined the EVER1 and EVER2 genes using eight different primer pairs without finding any nonsense or frameshift mutations in the gDNA from lymphocytes of the elder sister. CONCLUSIONS: In this report, the patient’s parents did not have epidermodysplasia verruciformis lesions or a consanguineous marriage. EV did not develop in the elder sister until five years of age, so the parents did not perceive EV as an inherited disease. The probability that EV developed in both sisters was only 6.25%. Thus, it is rare for both sisters to develop epidermodysplasia verruciformis lesions considering that the parents were presumed to be carriers and the disease reveal an autosomal recessive pattern of inheritance

Design and validation of microfluidic parameters of a microfluidic chip using fluid dynamics

The internal fluidic parameters of microfluidic channels must be analyzed to solve fundamental microfluidic problems, including microscale transport problems involving thermal analysis, chemical reactivity, velocity, pressure drop, etc., for developing good-quality chemical and biological products. Therefore, the characterization and optimization of the interaction of chemical and biological solutions through microfluidic channels are vital for fluid flow design and engineering for quality assurance in microfluidic platforms. As the internal structures and kinetics of microfluidic channels are becoming increasingly complex, experiments involving optimal fluidic and transport designs are challenging to perform with high accuracy. However, highly integrated simulation tools can guide researchers without specialized computational fluid backgrounds to design numerical prototypes of highly integrated devices. In this study, a microfluidic chip with two inlet wells and one outlet well was fabricated from polydimethylsiloxane following which simulations were performed using an ANSYS Fluent tool influenced by computational fluid dynamics at a nearly identical scale. The pressure drop and velocity profiles of the interaction of two pH buffer solutions (pH 4 and 10) through the designed microfluidic chip were qualitatively estimated from experimental data analysis and validated with the simulation results obtained from the CFD-influenced ANSYS Fluent tool

Sulfate and taurine excretion in rats after L-cysteine administration.

Excretion of sulfate and taurine, two major metabolites of sulfur, was examined in rats to study the nutritional status of sulfur metabolism in the mammals. Rats maintained on a conventional laboratory diet excreted 1.83 +/- 0.14 mmol of free sulfate and 229.0 +/- 75.3 mumol of taurine/kg of body weight per day. When the diet was changed to a synthetic 25% casein diet, the taurine excretion decreased to 15% of the previous daily excretion, but sulfate excretion decreased only slightly. These decreased levels returned to the original levels when 5 mmol of L-cysteine/kg of body weight was administered into the stomach through a catheter. One week after the first L-cysteine administration, when sulfate and taurine excretion had returned to the original levels, 5 mmol of L-cysteine/kg of body weight was administered likewise. The rats excreted sulfur corresponding to about 95% of L-cysteine administered in the form of free sulfate and taurine within a few days following L-cysteine administration, and sulfate excretion was 3.5 times more than taurine excretion. These results seem to suggest that, in rats, sulfur metabolism is in a state of equilibrium and that sulfate is formed preferentially to taurine.</p

Laparoscopic fundoplication for neurologically impaired adolescents with severe scoliosis

AbstractLaparoscopic antireflux procedure for patients with severe scoliosis is often challenging, as the esophageal hiatus lies in an extremely deep position and is frequently rotated. Reports regarding the clinical results of laparoscopic fundoplication are scarce, especially in patients with severe scoliosis. In this study, laparoscopic Nissen fundoplication was applied to seven adolescent patients aged between 19 and 29 years with neurological impairment and gastroesophageal reflux disease (GERD). The scoliosis among them was considerably severe with a median Cobb angle of 131°. Follow-up was conducted with a median period of 7.8 years. There was no intraoperative complication or recurrence of GERD. Two patients required tracheostomy, and one died due to recurrent pneumonia after fundoplication. Our experience suggested the feasibility of laparoscopic Nissen fundoplication with an arrangement of port layout even in neurologically impaired adolescents with severe scoliosis. As recurrent aspiration pneumonia can persist after fundoplication in some patients, an anti-aspiration procedure may be considered to achieve a higher quality of life

<ORIGINAL ARTICLE>Localization of anti-monocyte/macrophage antibody-positive cells in periodontal tissue of rat maxillary molars after orthodontic tooth movement

To examine the localization of monoclonal anti-monocyte/macrophage (ED1) and macrophage (ED2) antibody-positive cells in periodontium, rat maxillary molar teeth were moved by insertion of band materials. The orthodontic tooth movement was elicited for 5 days, and paraffin-embedded maxillary teeth were stained by fluorescent immunocytochemistry and observed using a confocal laser scanning microscope. The localization of ED1-positive mononuclear cells in the experimental teeth was little different from that in the controls. While ED2-positive mononuclear cells were located throughout the periodontium on the distalside of controls, the number of positive cells decreased on the pressure side of the treated teeth. The present study suggested that most of the immunoreactive mononuclear cells on the distal side of controls are macrophages, while the positive cells on the pressure side of the experimental teeth are osteoclast precursors and a small number of macrophages

Quantification of Modified Tyrosines in Healthy and Diabetic Human Urine using Liquid Chromatography/Tandem Mass Spectrometry

The quantification of urinary oxidized tyrosines, dityrosine (DiY), nitrotyrosine (NY), bromotyrosine (BrY), and dibromotyrosine (DiBrY), was accomplished by quadruple liquid chromatography-tandem mass spectrometry (LC/MS/MS). The sample was partially purified by solid phase extraction, and was then applied to the LC/MS/MS using multiple-reaction monitoring (MRM) methods. The analysis for the DiY quantification was done first. The residual samples were further butylated with n-butanol/HCl, and the other modified tyrosines were then quantified with isotopic dilution methods. MRM peaks of the modified tyrosines (DiY, NY, BrY, and DiBrY) from human urine were measured and the elution times coincided with the authentic and isotopic standards. The amounts of modified tyrosines in healthy human urine (n = 23) were 8.8 ± 0.6 (DiY), 1.4 ± 0.4 (NY), 3.8 ± 0.3 (BrY), and 0.7 ± 0.1 (DiBrY) µmol/mol of creatinine, respectively. A comparison of the modified tyrosines with urinary 8-oxo-deoxyguanosine, pentosidine, and Nε-(hexanoyl)lysine was also performed. Almost all products, except for NY, showed good correlations with each other. The amounts of the modified tyrosines (NY, BrY, and DiBrY) in the diabetic urine were higher than those in the urine from healthy people