Haptoglobin genotypic distribution (including Hp0 allele) and associated serum haptoglobin concentrations in Koreans

BACKGROUND: Haptoglobin polymorphism is associated with the prevalence of infections, autoimmune diseases, cardiovascular diseases, and other disorders. Congenital haptoglobin deficiency is associated with anaphylactic transfusion reactions in anhaptoglobinaemic patients with antihaptoglobin antibody. AIMS: To investigate haptoglobin genotypic distribution (including the Hp(0) allele) and associated serum haptoglobin concentrations in Koreans. METHODS: Five hundred and nine healthy Korean adults were randomly selected. Two methods were used: haptoglobin genotyping based on a polymerase chain reaction (PCR) system that exploited the structural difference of the Hp(1) and Hp(2 )alleles, and another PCR method that detected haptoglobin gene deletion by amplification of the junctional region of the Hp(0) allele. Serum haptoglobin concentrations were measured by nephelometry. RESULTS: The haptoglobin genotypes of 509 subjects were as follows: Hp(1)Hp(1), 7.1%; Hp(2)Hp(1), 37.7%; Hp(2)Hp(2), 49.3%; Hp(0)Hp(1), 2.2%; Hp(0)Hp(2), 3.5%; Hp(0)Hp(0), 0.2%. The gene frequency of Hp(0) in Koreans was calculated to be 0.031. Significant differences were seen among the concentrations of each haptoglobin genotype (Kruskal-Wallis test). Hp(0)Hp(2), but not Hp(0)Hp(1), was associated with hypohaptoglobinaemia. CONCLUSIONS: PCR methods for differentiating between haptoglobin genotypes, including the Hp(0) allele, may be useful in a broad spectrum of basic studies and clinical examinations.     

Cytokine responses in mice infected with<Emphasis Type="Italic"> Clonorchis sinensis</Emphasis>

FVB and BALB/c mice show different morbidity, development of Clonorchis sinensis, and pathological changes following C. sinensis infection. FVB mice are susceptible and BALB/c mice are relatively more resistant to C. sinensis infection. To investigate the relationship between cytokine reaction and susceptibility to C. sinensis infection in FVB and BALB/c mice, we described both the patterns and kinetics of Th1 cytokines and Th2 cytokines in spleen cell culture. Interleukin (IL)-4 and IL-10 cytokine production in the culture supernatants of the concanavalin-A-stimulated spleen cells increased at 2–3 weeks post-infection in both strains. IL-5 production increased between 2 and 5 weeks post-infection in both strains, and reached a peak level at 2 weeks post-infection in BALB/c mice and 4 weeks post-infection in FVB mice. In contrast, gamma interferon (IFN-) production decreased between 2 and 4 weeks in both strains. IL-2 production increased slightly in BALB/c mice following infection, but was unchanged in FVB mice. IL-4 production over preinfection levels was significantly higher in FVB mice, whereas IFN-, IL-2, and IL-10 production were significantly higher in BALB/c mice. The levels of serum immunoglobulin E (IgE) and blood eosinophils in both mouse strains significantly increased between 3 and 6 weeks postinfection. Serum IgE levels were significantly higher in FVB mice than in BALB/c mice. The results of this study suggest that susceptibility to C. sinensis infection is associated with Th2 cytokine production, especially IL-4 which is predominant in relatively susceptible FVB mice.     

B-cell chronic lymphocytic leukemia/small lymphocytic lymphoma involving bone marrow with an interfollicular pattern

B-cell chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) may involve the bone marrow in nodular, interstitial, diffuse, or mixed patterns. However, B-cell CLL/SLL associated with large reactive germinal centers (the so-called interfollicular pattern) involving the bone marrow is not reported. We describe 2 examples of B-cell CLL/SLL that subtotally replaced the bone marrow with an interfollicular pattern. In both cases, the neoplasms were composed of small round lymphoid cells; proliferation centers also were present. The neoplasms surrounded large reactive germinal centers that were devoid of peripheral mantle zones. The germinal centers were paratrabecular and nonparatrabecular in case 1 and nonparatrabecular in case 2. Flow cytometry immunophenotypic studies done on bone marrow aspiration samples of both cases showed a uniform population of neoplastic cells positive for pan-B-cell antigens and the CD5 and CD23 antigens. Immunohistochemical studies done on bone marrow biopsy sections supported the flow cytometry results and demonstrated that the germinal centers were negative for BCL-2. B-cell CLL/SLL may rarely involve the bone marrow with an interfollicular pattern. Knowledge of this pattern will prevent confusion with follicle center lymphoma and large cell transformation, both of which initially were considered in the differential diagnosis of these cases.     

p53 protein overexpression and allele loss of p53 gene in gastric adenocarcinoma.

Gene alterations of p53 tumor suppressor gene such as point mutations, deletions or insertions occur in various human cancers. p53 protein overexpression was studied immunohistochemically in 80 gastric adenocarcinomas using an anti-human p53 antibody (Pab 1801) and the avidin-biotin-peroxidase technique. We have also analyzed allele loss of the human p53 gene in 54 cases of gastric adenocarcinoma using polymerase chain reaction and restriction fragment length polymorphism. p53 immunostaining was also demonstrated in 48 of 80 carcinomas (60%). Normal mucosa was always negative. No relation could be found between p53 immunostaining and the degree of differentiation. 21 of the 54 patients(39%) were informative for the p53 exon 4. In ten of these informative cases(47.6%), tumor DNAs showed allele loss when compared with nonmetastatic lymph node DNAs. Seven of the ten(70%) showed p53 immunoreactivity. These findings suggest that mutations of the p53 gene may play a role in the development of gastric adenocarcinoma and that allele loss of p53 frequently occurs in p53 immunoreactive gastric adenocarcinoma.     

Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly,asymmetric polymicrogyria,and cutaneous pigmentary mosaicism: Case report and review of the literature

Genetic alterations leading to overactivation of mammalian target of rapamycin (mTOR) signaling result in brain overgrowth syndromes such as focal cortical dysplasia (FCD) and megalencephaly. Megalencephaly with cutis tri‐color of the Blaschko‐linear type pigmentary mosaicism and intellectual disability is a rare neurodevelopmental disorder attributed to the recurrent mosaic c.5930C > T (p.Thr1977Ile) MTOR variant. This variant was previously reported at low to intermediate levels of mosaicism in the peripheral blood of three unrelated individuals with consistent clinical findings. We report a fourth case of a 3‐year‐old female presenting with megalencephaly, obstructive hydrocephalus due to cerebral aqueductal stenosis, asymmetric polymicrogyria, dysgenesis of the corpus callosum, hypotonia, developmental delay, and cutaneous pigmentary mosaicism. Oligonucleotide and SNP chromosomal microarray (CMA), karyotype, and trio whole exome sequencing (WES) in the peripheral blood, as well as a targeted gene variant panel from fibroblasts derived from hyperpigmented and non‐hyperpigmented skin did not detect any abnormalities in MTOR or other genes associated with brain overgrowth syndromes. Unlike the previously reported cases, the de novo c.5930C > T (p.Thr1977Ile) MTOR variant was detected at 32% mosaicism in our patient only after WES was performed on fibroblast‐derived DNA from the hyperpigmented skin. This case demonstrates the tissue variability in mosaic expression of the recurrent p.Thr1977Ile MTOR variant, emphasizes the need for skin biopsies in the genetic evaluation of patients with skin pigmentary mosaicism, and expands the clinical phenotype associated with this pathogenic MTOR variant.     

Color Rendering in Medical Extended-Reality Applications

Cross-platform development of medical applications in extended-reality (XR) head-mounted displays (HMDs) often relies on game engines with rendering capabilities currently not standardized in the context of medical visualizations. Many aspects of the visualization pipeline including the characterization of color have yet to be consistently defined across rendering models and platforms. We examined the transfer of color properties from digital objects, through the rendering and image processing steps, to the RGB values sent to the display device. Five rendering pipeline configurations within the Unity engine were evaluated using 24 digital color patches. In the second experiment, the same configurations were evaluated with a tissue slide sample image. Measurements of the change in color associated with each configuration were characterized using the CIE 1976 color difference (ΔE). We found that the distribution of ΔE for the first experiment ranges from zero, as in the case using an Unlit Shader, to 25.97, as in the case using default configurations. The default Unity configuration consistently returned the highest ΔE across all 24 colors and also the largest range of color differences. In the second experiment, ΔEE ranged from 7.49 to 34.18. The Unlit configuration resulted in the highest ΔE in three of four selected pixels in the tissue sample image. Changes in color image properties associated with texture import settings were then evaluated in a third experiment using the TG18-QC test pattern. Differences in pixel values were found in all nine of the investigated texture import settings. The findings provide an initial characterization of color transfer and a basis for future work on standardization, consistency, and optimization of color in medical XR applications.     

A case of multiple schwannomas of the trigeminal nerves, acoustic nerves, lower cranial nerves, brachial plexuses and spinal canal: schwannomatosis or neurofibromatosis?

In most cases, while schwannoma is sporadically manifested as a single benign neoplasm, the presence of multiple schwannomas in one patient is usually indicative of neurofibromatosis 2. However, several recent reports have suggested that schwannomatosis itself may also be a distinct clinical entity. This study examines an extremely rare case of probable schwannomatosis associated with intracranial, intraspinal and peripheral involvements. A 63-year-old woman presented with a seven-year history of palpable lumps on both sides of the supraclavicular area and hearing impairment in both ears. On physical examination, no skin manifestations were evident. Facial sensory change, deafness in the left ear and decreased gag reflex were revealed by neurological examination. Magnetic resonance imaging revealed multiple lesions of the trigeminal nerves, acoustic nerves, lower cranial nerves, spinal accessory nerve, brachial plexuses, and spinal nerves. Pathological examination of tumors from the bilateral brachial plexuses, the spinal nerve in the T8 spinal position and the neck mass revealed benign schwannomas. Following is this patient case report of multiple schwannomas presenting with no skin manifestations of neurofibromatosis.     

Platelet adhesion onto segmented polyurethane film surfaces modified by addition and crosslinking of PEO-containing block copolymers

Polyethylene oxide (PEO) surfaces were prepared by the addition of PEO-containing amphiphilic block copolymers as surface modifying additives and of dicumyl peroxide (DCP) as a crosslinking agent in segmented polyurethane (PU). PEO-polypropylene oxide-PEO triblock copolymers (Pluronics) with different PEO chain length (from 0 to 98) were used as the surface modifying additives. The PEO additives in the PU film were then crosslinked to be stably entrapped in the PU matrix. The crosslinking was done by free radicals produced from the decomposition of DCP in the film through heating (120 degrees C) or ultraviolet irradiation (254 nm). The surface properties of the PEO additive-entrapped PU films were investigated by the measurement of water contact angles and electron spectroscopy for chemical analysis. The bulk properties such as water absorption, long-term film stability, and tensile strength and elongation at break, were also investigated. It was observed that addition of a small amount (5 wt% based on PU) of the PEO additives resulted in a considerable change of surface characteristics. The PEO additives were stably entrapped in the PU films by crosslinking of them, without significant changes of bulk properties of the films. From the platelet adhesion test on the prepared PEO additive-containing film surfaces, it was observed that the platelet adhesion on the surfaces decreases with increase in PEO chain length of PEO additives. The film surface containing additive with long PEO chains (chain length of 98) was particularly effective in preventing platelet adhesion. The crosslinking of the PEO additives in PU films did not affect the behavior of platelet adhesion on the surfaces; the films with crosslinked PEO additives showed similar platelet adhesion on the surfaces to the films with uncrosslinked ones.     

Nonvascular interventions of the urinary tract

Nonvascular intervention of the urinary tract is a well-established uroradiologic subspecialty, which is more important for avoiding invasive open surgery in the age of rising demand about the value of less invasive treatment. Various kinds of nonvascular intervention are recently performed under image-guidance and are as follows: percutaneous nephrostomy, percutaneous nephrostolithotomy, percutaneous dilatation of the urinary tract, sclerotherapy for renal cysts, percutaneous catheter drainage, percutaneous foreign body retrieval and biopsy. Percutaneous nephrostomy is a basic technique to provide a direct access to urinary tract, which makes it possible to perform other interventional procedures. Although nonvascular intervention may produce some complications, it is generally considered to be less invasive than open surgery and has advantages such as short hospital stay, early return to normal life and therefore economic savings. This review is described to help clinicians easily understand the procedures, indications, techniques, and complications with figures of cases the authors experienced.