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Sills, E. Scott,Obregon-Tito, Alexandra J.,Gao, Harry,McWilliams, Thomas K.,Gordon, Anthony T.,Adams, Catharine A.,Slim, Rima The Korean Society for Reproductive Medicine 2017 Clinical and Experimental Reproductive Medicine Vol.44 No.1
Objective: To describe in vitro development of human embryos derived from an individual with a homozygous pathogenic variant in NLRP7 (19q13.42) and recurrent hydatidiform mole (HM), an autosomal recessive condition thought to occur secondary to an oocyte defect. Methods: A patient with five consecutive HM pregnancies was genomically evaluated via next generation sequencing followed by controlled ovarian hyperstimulation, in vitro fertilization (IVF) with intracytoplasmic sperm injection, embryo culture, and preimplantation genetic screening. Findings in NLRP7 were recorded and embryo culture and biopsy data were tabulated as a function of parental origin for any identified ploidy error. Results: The patient was found to have a pathogenic variant in NLRP7 (c.2810+2T>G) in a homozygous state. Fifteen oocytes were retrieved and 10 embryos were available after fertilization via intracytoplasmic sperm injection. Developmental arrest was noted for all 10 embryos after 144 hours in culture, thus no transfer was possible. These non-viable embryos were evaluated by karyomapping and all were diploid biparental; two were euploid and eight had various aneuploidies all of maternal origin. Conclusion: This is the first report of early human embryo development from a patient with any NLRP7 mutation. The pathogenic variant identified here resulted in global developmental arrest at or before blastocyst stage. Standard IVF should therefore be discouraged for such patients, who instead need to consider oocyte (or embryo) donation with IVF as preferred clinical methods to treat infertility.
Relevance of vacA Genotypes of Helicobacter pylori to cagA Status and Its Clinical Outcome
(Sill Moo Park),(Joong Won Park),(Jae Gyu Kim),(Byung Chul Yoo) 대한내과학회 2001 The Korean Journal of Internal Medicine Vol.16 No.1
N/A Background : Determination of vacA mosaicism may be important because specific Helicobacter pylori vacA genotype can be used to predict different clinical outcome. The aim of this study was to assess the relationship of vacA genotypes of Helicobacter pylori to cagA status and its development of peptic ulcer diseases in Korean patients. Methods : Gastric biopsy specimens were obtained from 53 patients with gastric ulcer(GU), 57 with duodenal ulcer (DU) and 26 with chronic gastritis(CG) patients; all patients were infected with Helicobacter pylori. Bacterial mRNAs in the gastric mucosa were amplified by RT-PCR, using synthetic oligonucleotide primers specific for the vacA and the cagA gene. Patients with vacA s1 subtype were further examined to determine whether they had s1a or s1b subtype. Results : There was no correlation in frequency of vacA s1 and/or s1a genotype between CG and either GU or DU, as the vacA s1 and s1a/m1 were present in the majority of strains independent of clinical status(s1 ; 100.0% versus 94.3 % or 93.0 % and s1a/m1 ; 76.9% versus 62.3% or 64.9%, respectively). Likewise, there was no difference in the prevalence of the cagA gene between CG and either GU or DU patients (92.3% versus 90.6% or 98.2%, respectively). In addition, the cagA-negative status did not predict the presence of vacA s2 genotype. Conclusion : These results strongly suggest that either cagA or vacA s1 and/or s1a is not proved to be a useful marker to distinguish disease-specific Helicobacter pylori strains for the development of peptic ulcer diseases in Korean patients.
(Sill Moo Park),(Hyo Rang Lee),(Jae Gyu Kim),(Joong Won Park),(Seong Hyuck Han),(Joon Hyung Cho),(Mi Kyung Kim),(Gyu Jung) 대한내과학회 1999 The Korean Journal of Internal Medicine Vol.14 No.1
N/A Objectives : Helicobacter pylori infection induces selective reduction of the number of antral D-cells and results in abnormal regulation of serum gastrin secretion. The purpose of this study was to investigate the relationship between H. pylori infection and the numbers of G-cells and D-cells. Methods : The numbers of antral G-cells and D-cells, the ratio of G-cells to D-cells and fasting serum gastrin concentrations were compared between 37 patients with (29 with duodenal ulcers and 8 with gastric ulcers) and 33 without H. pylori infection (22 with duodenal ulcers and 11 with gastric ulcers). Serum gastrin concentrations were measured using the radioimmunoassay technique. Antral mucosal biopsy specimens were examined using immunohistochemical staining with antibodies specific for gastrin and somatostatin and the numbers of G-cells and D-cells per gastric gland were counted. Results : Fasting serum gastrin concentrations were significantly higher in patients with H. pylori infection compared to patients without infection (80.3±23.5 vs 47.6±14.1 pg/ml, p<0.001). The number of G-cells per gastric gland was similar in infected and uninfected patients (7.1±3.1 vs 7.3±3.9, respectively, p>0.5). The number of D-cells was significantly lower in patients with H. pylori infection than in uninfected patients in both duodenal and gastric ulcer patients (1.3±0.4 vs 2.5±1.6, respectively, p<0.001). The ratio of G-cells to D-cells was also significantly higher in infected patients compared with uninfected patients for both gastric and duodenal ulcers (5.7±2.7 vs 3.5±1.9, respectively, p<0.001). Conclusions : These results strongly suggest that Helicobacter pylori infection induces reduction of the number of antral D-cells. The resulting relative hypofunction of the inhibitory action of D-cells against G-cells may be responsible for increased serum gastrin secretion.
Sills, E Scott,Walsh, David J,Jones, Christopher A,Wood, Samuel H The Korean Society for Reproductive Medicine 2015 Clinical and Experimental Reproductive Medicine Vol.42 No.3
Essure (Bayer) received approval from the U.S. Food and Drugs Administration as a permanent non-hormonal contraceptive implant in November 2002. While the use of Essure in the management of hydrosalpinx prior to in vitro fertilization (IVF) remains off-label, it has been used specifically for this purpose since at least 2007. Although most published reports on Essure placement before IVF have been reassuring, clinical experience remains limited, and no randomized studies have demonstrated the safety or efficacy of Essure in this context. In fact, no published guidelines deal with patient selection or counseling regarding the Essure procedure specifically in the context of IVF. Although Essure is an irreversible birth control option, some patients request the surgical removal of the implants for various reasons. While these patients could eventually undergo hysterectomy, at present no standardized technique exists for simple Essure removal with conservation of the uterus. This article emphasizes new aspects of the Essure procedure, as we describe the first known association between the placement of Essure implants and the subsequent development of fluid within the uterine cavity, which resolved after the surgical removal of both devices.
Expression of Mucosal Cyto - Chemokine mRNAs in Patients with Helicobacter pylori Infection
(Sill Moo Park),(Jin Hee Kim),(Yo Han Hong),(Hye Ryung Jung),(Joong Won Park),(Jae Gyu Kim),(Bung Chul Yoo) 대한내과학회 2001 The Korean Journal of Internal Medicine Vol.16 No.4
N/A Background: Helicobacter pylori-induced destruction of the gastroduodenal mucosal barrier is initiated with mucosal in filtration of inflammatory cells. Cytokines and chemokines have been suggested to play important roles in the migration and activation of these inflammatory cells into the mucosa. The present study aimed to investigate expression rates of cyto-chemokine mRNAs using gastric mucosal biopsy specimens. Methods: In 98 patients infected with Helicobacter pylori, mucosal mRNA expression rates of cytokines (IL-1β, IL-6, and IL-10), C-C chemokines (macrophage inflammatory protein 1α [MIP-1α], and macrophage inflammatory protein 1β [MIP-1β], monocyte chemotactic and activating factor [MCAF], regulated on activation, normal T cell expressed and presumably secreted [RANTES]) and C-X-C chemokines (IL-8 and growth regulated α [GRO-α]) were examined using reverse transcription polymerase chain reaction (RT-PCR). Results: The expression rates of mRNA for IL-8, GRO-α, MIP-1α and RANTES were significantly more increased in H. pylori-positive patients thanin H. pylori-negative patients. However, the expressions of IL-1, IL-6 and IL-10 mRNA were statistically not different between two groups. After eradication of H. pylori, expressions of mRNA for three cytokines (IL-1β, IL-6 and IL-10), four C-C chemokines (MIP-1α, MIP-1β, MCAF and RANTES) and two C-X-C chemokines (IL-8 and GRO-α) were significantly decreased. Conclusion: These results suggest that C-X-C chemokines and some C-C chemokines play important roles in H. pylori-associated peptic ulcer diseases.