First reported human case of isolation of Vagococcus fluvialis from the urine of a former zoo clerk in Japan: a case report.

BACKGROUND: Vagococcal infections are extremely rare in humans. There are limited studies on the optimal methods for identification, antimicrobial susceptibility testing, and clinical manifestations of vagococcal infections. Herein, we report a patient with a urinary tract infection who had Vagococcus fluvialis in the urine. CASE PRESENTATION: An 84-year-old man presented to our urology department with a fever that had persisted for several days. He previously worked as a zoo clerk. The patient underwent a left nephroureterectomy for ureteral cancer 5 years ago, and total cystectomy and right cutaneous ureterostomy for muscle-invasive bladder cancer 1 year prior. He was empirically treated with 500 mg of levofloxacin intravenously every 24 h for the urinary tract infection. V. fluvialis was detected in his urine samples and Pseudomonas aeruginosa was detected in his urine and blood samples. Two bacterial species were identified using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. He was administered intravenous levofloxacin for approximately 1 week, followed by oral levofloxacin for another week, after which the infections were eradicated. CONCLUSIONS: To the best of our knowledge, this is the first report of V. fluvialis detected in human urine in Japan. Vagococcus spp. is commonly isolated from fish or animals, and based on the patient's work history, it is possible that the patient was a carrier because of transmission from animals.

Preoperative high serum total testosterone levels predict preserved postoperative sexual function in patients after nerve-sparing robot-assisted radical prostatectomy.

OBJECTIVE: To assess the association among preoperative total testosterone levels, postoperative sexual function, and prognosis after robot-assisted radical prostatectomy. METHODS: Patients who underwent robot-assisted radical prostatectomy in our institution were included in the study. Based on preoperative total testosterone levels, they were divided into low (<3.0 ng/mL) and high (≥3.0 ng/mL) total testosterone groups. Sexual function was evaluated using the International Index of Erectile Function scores, Expanded Prostate Cancer Index Composite scores, and the potency rate from preoperatively to 12 months after surgery. Oncological outcomes were evaluated based on biochemical recurrence. RESULTS: Out of 233 patients included, no significant difference in sexual function was found between the high (n = 183) and the low (n = 50) total testosterone groups at any point before or after surgery. However, in nerve-sparing cases, preservation in postoperative sexual function was observed only in the high total testosterone group (International Index of Erectile Function scores and Expanded Prostate Cancer Index Composite sexual function scores, at any point after surgery, p < 0.05; potency rate, at 3, 6, and 12 months after surgery; p < 0.05). Additionally, the high total testosterone group showed better biochemical recurrence-free survival than the low total testosterone group (p = 0.008). CONCLUSIONS: In the high total testosterone group, preservation in sexual function was observed after the nerve-sparing procedure, while the biochemical recurrence rate was low. Therefore, patients with high levels of total testosterone may be advised to consider nerve-sparing interventions.

Retrospective evaluation of the improvement in the urinary status-related quality of life after robot-assisted radical prostatectomy.

OBJECTIVES: This study aimed to investigate the characteristics of patients who report improvement in quality of life (QOL) related to urinary status after undergoing robot-assisted radical prostatectomy (RARP) for localized prostate cancer. METHODS: We retrospectively reviewed the patients who underwent RARP between May 2010 and May 2021 at our institution and were preoperatively unsatisfied with their urinary status. Patients were grouped as Group 1 (improved patients: "satisfied" with urinary status based on international prostate symptom score QOL [IPSS-QOL] = 0-2 at 12 months after RARP) and Group 2 (unimproved group: "unsatisfied"-IPSS-QOL 3-6). Additionally, the Expanded Prostate Cancer Index Composite (EPIC) urinary subdomains (urinary function, urinary bother [UB], urinary incontinence, and urinary irritation/obstruction [UIR]) and IPSS were evaluated preoperatively and till 12 months after RARP. RESULTS: Of the 237 patients, 72 (30.4%) were Group 1, and 165 (69.6%) were Group 2. Only UB and UIR improved at 12 months after RARP in Group 1, while other EPIC urinary subdomains remained unimproved at 12 months in both groups. On the other hand, IPSS improved at 12 months in both groups. Univariate and multivariate analysis revealed that the nerve-sparing, preoperative low IPSS (<11 vs. ≥11), and low IPSS-QOL (3 vs. 4-6) were associated with improvement in urinary status-related QOL (p < 0.05). CONCLUSIONS: Improvement in UB and UIR are important factors to ascertain improvement in urinary status-related QOL after RARP. Nerve-sparing and preoperative IPSS/IPSS-QOL values are useful predictors of this improvement.

Identification of a homozygous c.1039C>T (p.R347C) variant in CYP17A1 in a 67-year-old female patient with partial 17α-hydroxylase/17,20-lyase deficiency.

17α-Hydroxylase/17,20-lyase deficiency (17OHD) is caused by pathogenic mutations in CYP17A1. Impaired 17α-hydroxylase and 17,20-lyase activities typically induce hypertension, hypokalemia, sexual infantilism, and amenorrhea. Most patients with 17OHD are diagnosed in adolescence. Here, we report a female (46, XX) patient with 17OHD who was diagnosed at the age of 67 years. Genetic analysis was performed using direct DNA sequencing of polymerase chain reaction (PCR) products and multiplex ligation-dependent probe amplification (MLPA) analysis. Direct DNA sequencing revealed a homozygous c.1039C>T in CYP17A1, corresponding to a p.R347C amino acid change. MLPA probe signals showed that the CYP17A1 mutation was present in the homozygous carrier state. The patient's dehydroepiandrosterone sulfate and androstenedione levels were extremely low, despite elevated adrenocorticotropic hormone (ACTH) and normal cortisol levels. A corticotropin-releasing hormone (CRH) test showed no response of cortisol, despite a normal response of ACTH. Rapid ACTH injection resulted in elevations in the deoxycorticosterone, corticosterone, aldosterone, and 17-hydroxypregnenolone levels, but not in the cortisol level. These results suggested that 17α-hydroxylase/17,20-lyase activities were partially impaired. Computed tomography revealed bilateral adrenal hyperplasia and a hypoplastic uterus. A high basal plasma ACTH level and a discrepancy between ACTH and cortisol responses in a CRH test may provide a definitive diagnostic clue for this disease.

Retroperitoneal paraganglioma with loss of heterozygosity of the von Hippel-Lindau gene: a case report and review of the literature.

Von Hippel-Lindau (VHL) disease is an autosomal dominant disease related to germline mutations in VHL. In VHL disease, pheochromocytoma develops in 10%-20% of patients because of germline mutations and loss of heterozygosity of VHL. However, the rate of paraganglioma associated with VHL is low compared with that of pheochromocytoma, and the reason is unknown. In this study, we performed germline and somatic mutation analyses of retroperitoneal paraganglioma that developed in a patient with clinically diagnosed VHL disease and investigated the tumorigenic mechanism of paraganglioma. The patient was a 25-year-old woman who was considered to have VHL disease on the basis of her family history. She was referred to our clinic to investigate a tumor at the bifurcation of the common iliac artery. The tumor was diagnosed as retroperitoneal paraganglioma by clinical evaluations. A left renal cell carcinoma was also suspected. Polymerase chain reaction direct sequencing analysis and polymorphic microsatellite analysis within the VHL locus suggested that loss of heterozygosity of VHL was associated with paraganglioma and renal cell carcinoma. Multiplex ligation-dependent probe amplification analysis showed a loss of the copy number of VHL exons in paraganglioma. These results suggest that VHL disease contributes to the development of paraganglioma. A literature review showed no reported common missense variants involved in the progression of paraganglioma. The loss of heterozygosity of VHL can be a tumorigenic mechanism of retroperitoneal paraganglioma in VHL disease. However, the low rate of paraganglioma compared with pheochromocytoma is not explained by their genetic background alone.

Theoretical study of the dissociative photodetachment dynamics of the hydrated superoxide anion cluster.

The dissociative photodetachment of the hydrated superoxide anion cluster, O2-·H2O + hν → O2 + H2O + e-, is theoretically investigated using path-integral and ring-polymer molecular dynamics simulation methods, which can account for nuclear quantum effects. Full-dimensional potential energy surfaces for the anionic and lowest two neutral states (triplet and singlet spin states) are constructed based on extensive density-functional theory calculations. The calculated photoelectron spectrum agrees well with the experimental spectra measured for different photodetachment laser wavelengths. The calculated photoelectron-photofragment kinetic energy correlation spectrum also agrees well with previous experimental measurements. The dissociation mechanisms, including available energy partitioning and the importance of nuclear quantum effects in photodetachment, are discussed in detail.

Quantum calculations of the photoelectron spectra of the OH-·NH3 anion: implications for OH + NH3→ H2O + NH2 reaction dynamics.

We present the results of quantum dynamics calculations for analyzing the experimentally measured photoelectron spectra of the OH-·NH3 anion complex. Detachment of an excess electron of OH-·NH3 initially produces a molecular arrangement, which is close to the transition-state structure of the neutral OH + NH3→ H2O + NH2 hydrogen abstraction reaction due to the Franck-Condon principle, and thus finally leads to the OH + NH3 or H2O + NH2 asymptotic channel. We used both the path integral method and the reduced-dimensionality quantum wave packet method to simulate the photoelectron spectra of the OH-·NH3 anion. The calculated spectra were found to be in qualitative agreement with the experimental spectra. It was found that the photodetached complex mainly dissociates into the OH + NH3 channel; however, we found that the hydrogen exchange process also contributes to the photodetachment spectra.

Ring-Polymer Molecular Dynamics Calculations of Thermal Rate Coefficients and Branching Ratios for the Interstellar H3+ + CO → H2 + HCO+/HOC+ Reaction and Its Deuterated Analogue.

The reaction between H3+ and CO is important in understanding the H3+ destruction mechanism in the interstellar medium. In this work, thermal rate coefficients for the H3+ + CO and D3+ + CO reactions are calculated using ring-polymer molecular dynamics (RPMD) on a high-level machine-learning potential energy surface. The RPMD results agree well with the classical molecular dynamics results, where nuclear quantum effects are completely ignored, whereas the agreement between the RPMD results and the previous quasi-classical trajectory is good only at low temperatures. The calculated [HCO+]/[HOC+] product branching ratios decrease as the temperature increases, and the product branching is exclusively determined by the initial collisional orientation, which governs the formation of an ion-dipole complex, H3+···CO or H3+···OC, that dissociates into H2 + HCO+ or H2 + HOC+, respectively, via a direct mechanism. However, the contribution of the indirect mechanism via the rearrangement between H3+···CO and H3+···OC increases as the temperature increases, although its absolute fraction is small.

On-the-Fly Ring-Polymer Molecular Dynamics Calculations of the Dissociative Photodetachment Process of the Oxalate Anion.

The dissociative photodetachment dynamics of the oxalate anion, C2O4H- + hν → CO2 + HOCO + e-, were theoretically studied using the on-the-fly path-integral and ring-polymer molecular dynamics methods, which can account for nuclear quantum effects at the density-functional theory level in order to compare with the recent experimental study using photoelectron-photofragment coincidence spectroscopy. To reduce computational time, the force acting on each bead of ring-polymer was approximately calculated from the first and second derivatives of the potential energy at the centroid position of the nuclei beads. We find that the calculated photoelectron spectrum qualitatively reproduces the experimental spectrum and that nuclear quantum effects are playing a role in determining spectral widths. The calculated coincidence spectrum is found to reasonably reproduce the experimental spectrum, indicating that a relatively large energy is partitioned into the relative kinetic energy between the CO2 and HOCO fragments. This is because photodetachment of the parent anion leads to Franck-Condon transition to the repulsive region of the neutral potential energy surface. We also find that the dissociation dynamics are slightly different between the two isomers of the C2O4H- anion with closed- and open-form structures.

Spin-inversion mechanisms in O2 binding to a model heme compound: A perspective from nonadiabatic wave packet calculations.

Spin-inversion dynamics in O2 binding to a model heme complex, which consisted of Fe(II)-porphyrin and imidazole, were studied using nonadiabatic wave packet dynamics calculations. We considered three active nuclear degrees of freedom in the dynamics, including the motions along the Fe-O distance, Fe-O-O angle, and Fe out-of-plane distance. Spin-free potential energy surfaces for the singlet, triplet, quintet, and septet states were developed using density functional theory calculations, and spin-orbit coupling elements were obtained from CASSCF-level electronic structure calculations. The spin-inversion mainly occurred between the singlet state and one of the triplet states due to large spin-orbit couplings and the contributions of other states were extremely small. The present quantum dynamics calculations suggested that the narrow crossing region model plays a dominant role in the O2 binding dynamics. In addition, the one-dimensional Landau-Zener model underestimated the nonadiabatic transition probability.

Spin-inversion mechanisms in O2 binding to a model heme complex revisited by density function theory calculations.

Spin-inversion mechanisms in O2 binding to a model heme complex, consisting of Fe(II)-porphyrin and imidazole, were investigated using density-functional theory calculations. First, we applied the recently proposed mixed-spin Hamiltonian method to locate spin-inversion structures between different total spin multiplicities. Nine spin-inversion structures were successfully optimized for the singlet-triplet, singlet-quintet, triplet-quintet, and quintet-septet spin-inversion processes. We found that the singlet-triplet spin-inversion points are located around the potential energy surface region at short Fe-O distances, whereas the singlet-quintet and quintet-septet spin-inversion points are located at longer Fe-O distances. This suggests that both narrow and broad crossing models play roles in O2 binding to the Fe-porphyrin complex. To further understand spin-inversion mechanisms, we performed on-the-fly Born-Oppenheimer molecular dynamics calculations. The reaction coordinates, which are correlated to the spin-inversion dynamics between different spin multiplicities, are also discussed.

Real-time 400 Gbps/carrier WDM transmission over 2,000†km of field-installed G.654.E fiber.

We combine erbium-doped fiber amplifier (EDFA) and backward distributed Raman amplifier (DRA) to achieve the real-time wavelength division multiplexing (WDM) transmission of 400 Gbps/carrier polarization division multiplexing (PDM) 16 quadrature amplitude modulation (QAM) signals over 2,000 km of terrestrial field-deployed cut-off shifted fiber (CSF) compliant with ITU-T G.654.E. This paper compares the transmission performance of 400 Gbps/carrier signals achieved in CSF and standard single-mode fiber (SMF). This transmission distance, 2,019 km, is, to the best of our knowledge, the longest in 400 Gbps/carrier WDM transmission field experiments using digital signal processing (DSP) application specific integrated circuit (ASIC) integrated real-time optical transponders with the technologies to compensate device imperfections; the backward DRA used is fully compliant with laser power safety requirements.

Theoretical Analysis of the Formylmethylene Anion Photoelectron Spectrum: Importance of Wolff Rearrangement Dynamics.

Photoelectron spectroscopy of a molecular anion is very useful for investigating the transition state and intermediate regions on the reactive potential energy surfaces of a neutral system. In this work, we theoretically analyzed the previously measured photoelectron spectrum of the formylmethylene anion, HCCHO-. We simulated the photoelectron spectra for both the singlet and triplet states using the semiclassical method with quantum nuclear densities and Franck-Condon factor calculations with harmonic vibrational analysis. We also performed real-time quantum dynamics calculations to elucidate the importance of the Wolff rearrangement process, which leads to the stable product ketene from the carbene intermediate on the neutral singlet potential energy surface.

Does health literacy influence health-related lifestyle behaviors among specialists of health management? A cross-sectional study.

BACKGROUND: Noncommunicable diseases (NCDs), such as health-related lifestyle diseases, are the leading cause of mortality and societal and economic burdens. Poor lifestyle behaviors, which are modifiable to improve health, can cause diseases, including NCDs. Health literacy has been recognized as an important determinant of health, and studies have shown that higher health literacy is associated with better health outcomes and positive health-related behaviors. However, few studies have investigated the association between health literacy and health-related lifestyle behaviors to understand the mechanistic link between them. Thus, this study investigated the extent to which health literacy at different levels influences health-related lifestyle behaviors. METHODS: A cross-sectional study was conducted among Japanese health management specialists (N = 1,920). Functional, critical, and communicative health literacy were measured. Lifestyle behaviors (exercise, diet and nutrition, sleep, rest, smoking, and alcohol intake), in line with the Japanese National Health Promotion Program, were assessed and calculated into a total cumulative score of health-related lifestyle behaviors. Moreover, we analyzed the associations between the three levels of health literacy and lifestyle behaviors using regression analyses by adjusting for socio-psycho-demographic factors. RESULTS: Multiple linear regression analyses showed a significant association between the Japanese version of the European Health Literacy Survey Questionnaire and total health-related lifestyle scores (standardized ß = 0.160, p < 0.001, R2 = 0.136) after adjusting for sociodemographic factors. Similarly, the association between communicative and critical health literacy and the total health-related lifestyle scores was significant (standardized ß = 0.122, p < 0.001, R2 = 0.125). The analysis indicated that individuals who had higher level of health literacy (critical and communicative) than functional health literacy (Japanese version of the Newest Vital Sign score) had higher health-related lifestyle behaviors. CONCLUSIONS: A higher level of health literacy is associated with health-related lifestyle behaviors. Health literacy can be a target for interventions to achieve the national goal of lifestyle-related disease prevention and control.

Light and Shadow of Na-Glucose Cotransporter 2 Inhibitors in the Treatment of Diabetes Mellitus: Points for Improvement Based on Our Clinical Experience.

We analyzed the effect of Na-glucose cotransporter 2 inhibitors (SGLT2-I) in diabetic patients visiting our hospital. The study included 236 patients treated with SGLT2-I alone or with codiabetic drugs for at least two years. We analyzed overtime changes in glycosylated hemoglobin A1c (HbA1c) in the patients by repeated analyses of variance (ANOVA) and evaluated the therapeutic effect. HbA1c levels decreased significantly in the first six months after treatment. Afterward, they leveled off and increased slightly over the next two years. Six months after treatment, the mean (SD) of HbA1c was 8.19 (1.46) %; the mean difference dropped by 0.91%, and HbA1c in mild DM2 did not drop by below 8.0%. Overall, there was only a slight improvement. We performed multivariate logistic regression analysis using a model with or without improvement as the objective variable and several explanatory variables. Na and Hct were significant factors. They increased considerably over six months and then leveled off. eGFR significantly reduced in the hyperfiltration group six months after treatment. The annual decline rate in eGFR was also faster, even in the nonhyperfiltration group than in the healthy subjects, which may be a characteristic of renal clearance in SGLT2-I treatment. In conclusion, SGLT2-I is an excellent antidiabetic, nephroprotective agent to eliminate hyperfiltration, but unfortunately, SGLT2-I alone does not have enough power to reduce blood glucose levels. SGLT2-I, with insulin or insulin secretagogues, enhances insulin resistance, induces hyperinsulinemia, and exacerbates type 2 DM. In contrast, SGLT2-I, with noninsulin antidiabetic agents and a low-carbohydrate diet, may bring better results.

Population-specific putative causal variants shape quantitative traits.

Human genetic variants are associated with many traits through largely unknown mechanisms. Here, combining approximately 260,000 Japanese study participants, a Japanese-specific genotype reference panel and statistical fine-mapping, we identified 4,423 significant loci across 63 quantitative traits, among which 601 were new, and 9,406 putatively causal variants. New associations included Japanese-specific coding, splicing and noncoding variants, exemplified by a damaging missense variant rs730881101 in TNNT2 associated with lower heart function and increased risk for heart failure (P = 1.4 × 10-15 and odds ratio = 4.5, 95% confidence interval = 3.1-6.5). Putative causal noncoding variants were supported by state-of-art in silico functional assays and had comparable effect sizes to coding variants. A plausible example of new mechanisms of causal variants is an enrichment of causal variants in 3' untranslated regions (UTRs), including the Japanese-specific rs13306436 in IL6 associated with pro-inflammatory traits and protection against tuberculosis. We experimentally showed that transcripts with rs13306436 are resistant to mRNA degradation by regnase-1, an RNA-binding protein. Our study provides a list of fine-mapped causal variants to be tested for functionality and underscores the importance of sequencing, genotyping and association efforts in diverse populations.

Identification of subgroups within a Japanese older adult population for whom statin therapy is effective in reducing mortality.

Use of statins for primary prevention can reduce all-cause mortality in Asian elderly populations, but their effect and the specific effective subgroups in the elderly Japanese population remain unclear. This study examined the relationship between statin therapy for primary prevention and mortality reduction in older Japanese adults, and investigated the effective subgroups. The cohort study was conducted using the Shizuoka Kokuho Database (SKDB). Data were compared between the statin-treated group and a non-statin-treated (control) group using the inverse probability of treatment weighting (IPTW) method. In the SKDB cohort aged ≥65 years, new statin use was associated with a decreased risk of all-cause mortality (hazard ratio, 0.40; 95% confidence interval [CI], 0.33-0.48) after IPTW adjustment. The risk difference for mortality at 5 years in the statin-treated group compared with that in the control group was 0.05 (95% CI, 0.04-0.06), and the number needed to treat was 21.20 (95% CI, 18.10-24.70). In conclusion, statin use for primary prevention in older adults may reduce the risk of all-cause mortality in the population without atherosclerotic disease. Furthermore, statin use for primary prevention is feasible in patients aged 75 to <85 years and in patients with comorbidities such as diabetes, or dementia.

Association between health literacy and purpose in life and life satisfaction among health management specialists: a cross-sectional study.

Purpose in life is anchored as a goal in national health promotion plans in several countries. Health literacy is the ability to find, understand, use, and evaluate health-related information; this ability has been investigated in terms of its effect on health outcomes and is said to play a critical role in health promotion. In the context of national health promotion, the effect of health literacy on purpose in life and life satisfaction remains unclear; therefore, this study aims to determine the effect of health literacy. A cross-sectional study was conducted on Japanese health management specialists (N = 1920). Health literacy was measured using the Communicative and Critical Health Literacy scale. Purpose in life and life satisfaction were measured using the Ikigai-9 scale and a Likert scale, respectively. We analyzed the associations between health literacy and purpose in life and life satisfaction with regression analyses. Age, sex, income, education, marital status, psychological stress, and diseases as present illness were adjusted in the statistical models. Our multiple linear regressions indicated that health literacy was significantly associated with purpose in life (ß = 0.199, p < 0.001), after adjusting for covariates (age, sex, income, education, marital status, psychological factor, and disease status). Life satisfaction was also significantly associated with health literacy (ß = 0.126, p < 0.001). Health literacy is associated with purpose in life and life satisfaction among specialists in health management. Health literacy plays a critical role in lifestyle-related disease prevention and health promotion. Interventions to improve health literacy may be warranted in the context of national health promotion.

Usefulness of subclassification of adult diabetes mellitus among inpatients in Japan.

AIMS/INTRODUCTION: We aimed to replicate a new diabetes subclassification based on objective clinical information at admission in a diabetes educational inpatient program. We also assessed the educational outcomes for each cluster. METHODS: We included diabetes patients who participated in the educational inpatient program during 2009-2020 and had sufficient clinical information for the cluster analysis. We applied a data-driven clustering method proposed in a previous study and further evaluated the clinical characteristics of each cluster. We investigated the association between the clusters and changes in hemoglobin A1c level from the start of the education program. We also assessed the risk of re-admission for the educational program. RESULTS: We divided a total of 651 patients into five clusters. Their clinical characteristics followed the same pattern as in previous studies. The intercluster ranking of the cluster center coordinates showed strong correlation coefficients with those of the previous studies (mean ρ = 0.88). Patients classified as severe insulin-resistant diabetes (cluster 3) showed a more pronounced progression of renal dysfunction than patients classified as the other clusters. The patients classified as severe insulin-deficient diabetes (cluster 2) had the highest rate of reduction in hemoglobin A1c level from the start of the program (P < 0.01) and a tendency toward a lower risk of re-admission for the education program (hazard ratio 0.47, P = 0.09). CONCLUSION: We successfully replicated the diabetes subclassification using objective clinical information at admission for the education program. In addition, we showed that severe insulin-deficient diabetes patients tended to have better educational outcomes than patients classified as the other clusters.

An Asymptomatic Case With MEN1 Slipping Through Genetic Screening by SNV-dependent Allelic Dropout.

Context: Genetic testing is useful not only for the diagnosis of the MEN1 proband but also for determining the putative asymptomatic variant carriers to improve the prognosis or to avoid unnecessary medical intervention. However, we must be aware of the putative pitfalls of polymerase chain reaction (PCR)-based genetic testing in specific conditions that lead to medical mismanagement. Objective: To warn of the putative pitfalls of PCR-based genetic testing, we report an overlooked case of MEN1 due to PCR allelic dropout. Methods: A 69-year-old man was clinically diagnosed with MEN1, and genetic testing revealed that he had a pathogenic variant in the MEN1 gene. His 36-year-old son was completely asymptomatic. As the son was 50% at risk of MEN1, he was willing to undergo genetic testing himself after genetic counseling. Results: Genetic testing was carried out in 2 independent laboratories. Although laboratory A showed that he carried a pathogenic variant, laboratory B showed that he had the wild-type genotype of MEN1. The discrepancy in these results was due to PCR allelic dropout by single-nucleotide variations of the MEN1 gene in the 5' region. The surveillance revealed that he had asymptomatic primary hyperparathyroidism and a neuroendocrine tumor of the pancreas. Conclusion: PCR-dependent genetic analysis may be susceptible to PCR allelic dropout in an SNV-specific manner. We must be careful when genetically testing individuals of relatives with clinical MEN1 disease.