Germline mutation of DNA mismatch repair (MMR) genes is a cause of Lynch syndrome. Methylation of MutL homolog 1 (
) and MutS homolog 2 (
) has been detected in peripheral blood cells of patients ...with colorectal cancer. This methylation is referred to as epimutation. Methylation of these genes has not been studied in an unselected series of endometrial cancer cases. Therefore, we examined methylation of
,
, and
promoter regions of peripheral blood cells in 206 patients with endometrial cancer using a methylation-specific polymerase chain reaction (MSP). Germline mutation of MMR genes, microsatellite instability (MSI), and immunohistochemistry (IHC) were also analyzed in each case with epimutation.
epimutation was detected in a single patient out of a total of 206 (0.49%)-1 out of 58 (1.72%) with an onset age of less than 50 years. The patient with
epimutation showed high level MSI (MSI-H), loss of
expression and had developed endometrial cancer at 46 years old, complicated with colorectal cancer. No case had epimutation of
or
. The
epimutation detected in a patient with endometrial cancer may be a cause of endometrial carcinogenesis. This result indicates that it is important to check epimutation in patients with endometrial cancer without a germline mutation of MMR genes.
We report a case of persistent left superior vena cava (LSVC) with absent right superior vena cava (RSVC) diagnosed prenatally. At 27 weeks’ gestation, routine fetal ultrasonography showed an ...abnormal four-chamber view. Fetal echocardiography revealed a markedly enlarged coronary sinus in the four-chamber view. An absent RSVC and a persistent LSVC were demonstrated in the three-vessel view. No additional cardiac malformations were seen before birth. Postnatal imaging confirmed the prenatal diagnosis. The combination of persistent LSVC and absent RSVC without any other cardiac malformations is an extremely rare cardiac anomaly and less commonly detected in utero. Identification of a dilated coronary sinus in the four-chamber view, with atypical features in the three-vessel view, may lead to the antenatal diagnosis of this condition.
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EMUNI, FIS, FZAB, GEOZS, GIS, IJS, IMTLJ, KILJ, KISLJ, MFDPS, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, SBMB, SBNM, UKNU, UL, UM, UPUK, VKSCE, ZAGLJ
Abstract only Background and Aim: To determine the protein intake associated with the prevalence of sarcopenia, we conducted a cross-sectional study of 1251 community-dwelling older Japanese aged 60 ...years and older. Methods: The mean age of the participants was 68.8 years, and the percentage of women was 56.7%. Sarcopenia was defined according to the Asian Working Group for Sarcopenia 2019 by low muscle mass (skeletal muscle mass), muscle strength (grip strength), and physical performance (gait speed). Protein and energy intake were assessed using a food frequency questionnaire (FFQ). Logistic regression models were used to estimate the multivariate-adjusted odds ratios (ORs) and 95% confidence intervals (95%CIs) of the prevalence of sarcopenia according to gender-specific tertiles of protein intake as a percentage of total energy. Corresponding analyses were done also for protein intake per day and for protein intake per kg of body weight, separately, instead of protein intake as a percentage of total energy. Results: The prevalence of sarcopenia was 8.0% (100/1251). The median protein intake as a percentage of total energy, protein intake per day, and protein intake per body weight by gender were, in order, 11.8%E, 59.2 g/day, and 0.9 g/kg/day for males and 14.1%E, 54.7 g/day, and 1.0 g/kg/day for females. Since there was no gender interaction in the association between each protein intake and the prevalence of sarcopenia, we performed the analysis for males and females combined. The multivariable adjusted ORs (95%CI) of the prevalence of sarcopenia was lower in the high protein intake as a percentage of total energy (>12.6%E in males and >15.2%E in females, respectively) group (0.47 (0.27-0.83)) than in the low intake (<11.1%E in males and <13.4%E in females, respectively) group; the linear trend was significant (p =0.009). Similarly, we found a significantly inverse association for sarcopenia prevalence at protein intakes higher than 54.4 g/day for males and 50.6 g/day for females, compared to those with lower intakes. However, there was no association between protein intake per body weight and the prevalence of sarcopenia. We obtained similar results when the participants were restricted to those 65 years and older as a sensitivity analysis. Conclusion: Significant inverse associations were found between the prevalence of sarcopenia and protein intake in community-dwelling older Japanese. However, we should consider that protein intake assessed by the FFQ is often underestimated when discussing absolute protein intake for sarcopenia prevention.
Metabolomics has developed as a powerful tool for investigating the complex pathophysiology underlying atherosclerosis and cardiovascular disease. Many epidemiological studies have applied this ...technique to accurately and comprehensively assess the effects of environmental factors on health outcomes, which used to be a perpetual challenge. Metabolites are defined as small molecules which are intermediate products of metabolic reactions catalyzed by numerous enzymes occurring within cells. Consequent to both genetic variation and environment, they allow us to explore the gene–environment interactions and to gain a better understanding of multifactorial diseases like cardiovascular disease. This review article highlights the findings of well-known prospective cohort studies around the world that have utilized metabolomics for a wide range of purposes, including biomarker discovery, improving cardiovascular risk prediction and early disease diagnosis, and exploring detailed mechanisms of disease onset and progression. However, technical challenges still exist in applying them clinically. One limitation is due to various analytical platforms that are used based on the judgment of each study; comparative assessments among different platforms need to be conducted in order to correctly interpret and validate each data externally. Secondly, metabolite levels obtained in most high-throughput metabolomics profiling studies are often semiquantitative rather than fully quantitative concentrations, which makes it difficult to compare and combine results among different studies and to determine the levels for practical use. In 2014, the Consortium of Metabolomics Studies was developed, which is expected to take the lead in overcoming these issues.
Abstract Objective To evaluate the efficacy of a newly developed snare system used for hysteroscopic polypectomy in a small-caliber diagnostic flexible hysteroscope. Materials and methods One hundred ...thirty-eight women (age 26–69 years) with endometrial polyps underwent hysteroscopic polypectomy using a Lin polyp snare system in a small-caliber diagnostic flexible hysteroscope without cervical dilation, analgesia, anesthesia, or use of a tenaculum. No electric current was used during the procedure. Results Indications of hysteroscopic examinations for these 138 women were infertility in 56, abnormal uterine bleeding in 43, menorrhagia in 17, abnormal ultrasound findings in 20, and abnormal intrauterine pathologic or cytologic findings in 2. Sixty-nine women had a single polyp, whereas the other 69 had multiple polyps. In 11 women, the polyps were only excised without removing the specimens. In 29 women, the polyps were removed partly by a snare first and the remaining polyps by a polyp grasper. In 49 women, the polyps were transected by a snare and the specimens were removed by a polyp grasper. In the other 49 women, the polyps were transected and removed only by using a snare. Most of the women had a satisfactory specimen, but there were 28 women with small specimens and 11 women with no specimen. The pathologic findings were endometrial polyps in 100 women, endometrium in 17, endometrial hyperplasia complex in three, atypical endometrial hyperplasia complex in three, adenomyoma in two, atypical polypoid adenomyoma in one, and endometrial carcinoma in one. The painful sensation was slight and all patients could tolerate the whole procedures. No special complication other than bleeding for several days was encountered. Conclusions Endometrial polyps can be removed using a Lin polyp snare system equipped in a small-caliber flexible hysteroscopy without requiring cervical dilation, anesthesia, analgesia, or a tenaculum in the office. This procedure may substitute for blind dilation and curettage for intrauterine pathologic evaluation.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UILJ, UL, UM, UPCLJ, UPUK, ZAGLJ, ZRSKP
Risk-reducing surgery (RRS) is defined as a prophylactic approach with removal of organs at high risk of developing cancer, which is performed in cases without lesions or absence of clinically ...significant lesions. Hereditary gynecological cancers for which RRS is performed include hereditary breast and ovarian cancer (HBOC) and Lynch syndrome. For HBOC, RRS in the United States (US) is recommended for women with mutations in the breast cancer susceptibility (
)
and
genes and bilateral salpingo-oophorectomy (BSO) is generally performed. This procedure may reduce the risk of breast, ovarian, Fallopian tube and primary peritoneal cancer, although ovarian deficiency symptoms occur postoperatively. For Lynch syndrome, RRS in the US is considered for postmenopausal women or for women who do not desire to bear children and BSO and hysterectomy are usually performed. This approach may reduce the risk of endometrial and ovarian cancer, although ovarian deficiency symptoms also occur. For RRS, there are several issues that must be addressed to reduce the risk of cancer development in patients with HBOC or Lynch syndrome. To the best of our knowledge, this is the first review to discuss RRS with a focus on hereditary gynecological cancer.
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IZUM, KILJ, NUK, PILJ, PNG, SAZU, UL, UM, UPUK
The AT-rich interacting domain-containing protein 1A gene (ARID1A) encodes ARID1A, a member of the SWI/SNF chromatin remodeling complex. Mutation of ARID1A induces changes in expression of multiple ...genes (CDKN1A, SMAD3, MLH1 and PIK3IP1) via chromatin remodeling dysfunction, contributes to carcinogenesis, and has been shown to cause transformation of cells in association with the PI3K/AKT pathway. Information on ARID1A has emerged from comprehensive genome-wide analyses with next-generation sequencers. ARID1A mutations have been found in various types of cancer and occur at high frequency in endometriosis-associated ovarian cancer, including clear cell adenocarcinoma and endometrioid adenocarcinoma, and also occur at endometrial cancer especially in endometrioid adenocarcinoma. It has also been suggested that ARID1A mutation occurs at the early stage of canceration from endometriosis to endometriosis-associated carcinoma in ovarian cancer and also from atypical endo-metrial hyperplasia to endometrioid adenocarcinoma in endometrial cancer. Therefore, development of a screening method that can detect mutations of ARID1A and activation of the PI3K/AKT pathway might enable early diagnosis of endometriosis-associated ovarian cancers and endometrial cancers. Important results may also emerge from a current clinical trial examining a multidrug regimen of temsirolimus, a small molecule inhibitor of the PI3K/AKT pathway, for treatment of advanced ovarian clear cell adenocarcinoma with ARID1A mutation and PI3K/AKT pathway activation. Also administration of sorafenib, a multikinase inhibitor, can inhibit cancer proliferation with PIK3CA mutation and resistance to mTOR inhibitors and GSK126, a molecular-targeted drug can inhibit proliferation of ARID1A-mutated ovarian clear cell adenocarcinoma cells by targeting and inhibiting EZH2. Further studies are needed to determine the mechanism of chromatin remodeling dysregulation initiated by ARID1A mutation, to develop methods for early diagnosis, to investigate new cancer therapy targeting ARID1A, and to examine the involvement of ARID1A mutations in development, survival and progression of cancer cells.
Abstract Objective To evaluate the efficacy of our method for retrieval of lost intrauterine devices (IUDs) either with or without strings in an office-based setting. Methods A total of 38 women ...underwent retrieval of lost IUD. After preevaluation with ultrasonography and hysteroscopy, a Lin polyp grasper was used to remove the IUD under ultrasound monitoring without using a simultaneous hysteroscopy. Results Out of 38 women, 12 (31.6%) had IUD insertion for 10–19 years, whereas in another 12 women (31.6%), the duration was 20–40 years. Participants were divided into two groups: (1) premenopausal group ( n = 21). The removed IUDs were 11 Chinese IUDs, seven FD-1 IUDs, one Yusei ring IUD, one Lippe loop IUD, and one Mirena IUD; and (2) postmenopausal group ( n = 17). The removed IUDs were five soft type Ota ring IUDs, eight FD-1 IUDs, one Saf-T-Coil IUD, one KS wing IUD, and one Chinese IUD. A very hard type Ota ring IUD inserted for 40 years could not be removed. All of the other IUDs were removed uneventfully. Most of the patients could tolerate the procedure without the use of analgesia or anesthesia. No subsequent complication except bleeding for several days was encountered. Conclusion Using our method, lost IUDs either with or without strings can be effectively and safely retrieved in the office-based setting without analgesia or anesthesia.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UILJ, UL, UM, UPCLJ, UPUK, ZAGLJ, ZRSKP
Radical hysterectomy is often performed to treat early-stage cervical cancer in women of reproductive age, and sexual dysfunction due to postoperative vaginal shortening is a major concern 1,2. ...Vaginoplasty using various techniques is commonly performed in patients with congenital vaginal agenesis 3. However, there are few reports of vaginoplasty being performed for vaginal shortening after radical hysterectomy in a patient with cervical cancer 4,5. We demonstrate a novel vaginoplasty technique in which peritoneal flaps are used during laparoscopic radical hysterectomy to prevent postoperative vaginal shortening and consequent sexual dysfunction in patients with early-stage cervical cancer. A 37-year-old woman with early-stage cervical cancer who wished to perform sexual activity postoperatively underwent laparoscopic radical hysterectomy and vaginoplasty. After radical hysterectomy, the residual vaginal length was 4 cm. The dissected peritoneum of pouch of Douglas (posterior peritoneal flap) was sutured to the posterior vaginal stump. The supravesical peritoneum was dissected from the ventral to the dorsal side to create an anterior peritoneal flap, which was inverted, pulled down, and sutured to the anterior vaginal stump. The anterior peritoneal flap and suprarectal peritoneum were sutured to create a 10-cm neovaginal vault. Subsequently, a methacrylic resin mold was inserted into the neovagina to prevent postoperative neovaginal stenosis. The patient had sexual intercourse 3 months postoperatively. She was satisfied with the sexual activity and experienced no vaginal shortening or stenosis. Our novel vaginoplasty technique is feasible and effective for preventing sexual dysfunction by lengthening the vagina during laparoscopic radical hysterectomy for early-stage cervical cancer.
Radical hysterectomy is often performed to treat early-stage cervical cancer in women of reproductive age, and sexual dysfunction due to postoperative vaginal shortening is a major concern 1,2. ...Vaginoplasty using various techniques is commonly performed in patients with congenital vaginal agenesis 3. However, there are few reports of vaginoplasty being performed for vaginal shortening after radical hysterectomy in a patient with cervical cancer 4,5. We demonstrate a novel vaginoplasty technique in which peritoneal flaps are used during laparoscopic radical hysterectomy to prevent postoperative vaginal shortening and consequent sexual dysfunction in patients with early-stage cervical cancer. A 37-year-old woman with early-stage cervical cancer who wished to perform sexual activity postoperatively underwent laparoscopic radical hysterectomy and vaginoplasty. After radical hysterectomy, the residual vaginal length was 4 cm. The dissected peritoneum of pouch of Douglas (posterior peritoneal flap) was sutured to the posterior vaginal stump. The supravesical peritoneum was dissected from the ventral to the dorsal side to create an anterior peritoneal flap, which was inverted, pulled down, and sutured to the anterior vaginal stump. The anterior peritoneal flap and suprarectal peritoneum were sutured to create a 10-cm neovaginal vault. Subsequently, a methacrylic resin mold was inserted into the neovagina to prevent postoperative neovaginal stenosis. The patient had sexual intercourse 3 months postoperatively. She was satisfied with the sexual activity and experienced no vaginal shortening or stenosis. Our novel vaginoplasty technique is feasible and effective for preventing sexual dysfunction by lengthening the vagina during laparoscopic radical hysterectomy for early-stage cervical cancer. Trial Registration: Japan Registry of Clinical Trials Identifier: jRCT1030210227.
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