Primary cutaneous mucinous carcinoma in a periorbital lesion: two case reports and literature review.

Primary cutaneous mucinous carcinoma (PCMC) is a rare malignancy of the sweat glands that most commonly affects the periorbital area. It is characterized by slow growth over a prolonged period, and its morphology can be easily confused with a benign tumor, such as an epidermal cyst. Consequently, many patients experience recurrence after undergoing multiple resections. However, there are few reports concerning the surgical management of PCMC. We present two cases of PCMC originating in the periorbital area. The first case involved a 76-year-old man with a mass measuring 3.0× 1.5 cm that had been increasing in size. The second case was a 61-year-old man with two masses, each measuring 1.0× 1.0 cm, that were also growing. Both patients underwent wide excision with a 5-mm safety margin, which was determined based on the widest view of the cross-section of the mass on the magnetic resonance imaging. Subsequently, based on the intraoperative frozen biopsy results, both patients underwent additional excision with a 5-mm safety margin in only one direction. This report shows that, when determining the surgical margin of PCMC in periorbital area, employing imaging modalities and intraoperative frozen biopsies can be helpful for narrowing the surgical margin.

Validation of MELD 3.0 in patients with alcoholic liver cirrhosis using prospective KACLiF cohort.

BACKGROUND AND AIM: The Model for End-Stage Liver Disease (MELD) is a reliable prognostic tool for short-term outcome prediction in patients with end-stage liver disease. MELD 3.0 was introduced to enhance the predictive accuracy. This study assessed the performance of MELD 3.0, in comparison to MELD and MELD-Na, in patients with alcoholic liver cirrhosis. METHODS: This multicenter prospective cohort study comprised patients with alcoholic cirrhosis admitted for acute deterioration of liver function in the Republic of Korea between 2015 and 2019. This study compared the predictive abilities of MELD, MELD-Na, and MELD 3.0, for 30-day and 90-day outcomes, specifically death or liver transplantation, and explored the factors influencing these outcomes. RESULTS: A total of 1096 patients were included in the study, with a mean age of 53.3 ± 10.4 years, and 82.0% were male. The mean scores for MELD, MELD-Na, and MELD 3.0 at the time of admission were 18.7 ± 7.2, 20.6 ± 7.7, and 21.0 ± 7.8, respectively. At 30 and 90 days, 7.2% and 14.1% of patients experienced mortality or liver transplantation. The areas under the receiver operating characteristic curves for MELD, MELD-Na, and MELD 3.0 at 30 days were 0.823, 0.820, and 0.828; and at 90 days were 0.765, 0.772, and 0.776, respectively. Factors associated with the 90-day outcome included concomitant chronic viral hepatitis, prolonged prothrombin time, elevated levels of aspartate transaminase, bilirubin, and creatinine, and low albumin levels. CONCLUSION: MELD 3.0 demonstrated improved performance compared to previous models, although the differences were not statistically significant.

Clinical characteristics of endometrioma with and without dysmenorrhea diagnosed by laparoscopy: A retrospective cohort study in a tertiary center.

OBJECTIVE: Clinical characteristics of patients with endometrioma without dysmenorrhea have not been well delineated; our goal was to remedy this issue by performing a retrospective cohort study. METHODS: A total of 379 patients who underwent laparoscopic surgery for endometrioma ≥4 cm at a tertiary hospital were included in this retrospective study. Patients were divided into two groups based on the presence of dysmenorrhea at the time of hospital visit; with dysmenorrhea group and without dysmenorrhea group. RESULTS: Patients without dysmenorrhea comprised 9.5% of all surgically confirmed endometriomas. Significant differences were found in the revised American Society for Reproductive Medicine (rASRM) stage, age at surgery, and bilaterality. Patients with rASRM stage IV were more likely to have dysmenorrhea than were subjects with rASRM stage III (odds ratio (OR), 10.58; 95% confidence interval (CI), 4.63-24.21; P < 0.001). Older patients were less likely to have dysmenorrhea (OR, 0.94; 95% CI, 0.88-1.00; P = 0.045), as were patients with bilateral rather than unilateral endometrioma (OR, 0.36; 95% CI, 0.15-0.82; P = 0.015). No significant differences in cyst size, age at menarche, body mass index (BMI), parity, or history of previous ovarian surgery were found between the two groups. CONCLUSION: Patients without dysmenorrhea comprised 9.5% of endometrioma cases and had less advanced rASRM stage, were older at surgery, and had a higher probability of bilateral than unilateral endometrioma than patients with dysmenorrhea.

Shallow trochlear groove and narrow medial trochlear width at the proximal trochlea in patients with trochlear dysplasia: A three-dimensional computed tomography analysis.

PURPOSE: Although the Dejour classification is the primary classification system for evaluating trochlear dysplasia, concerns have been raised about its reliability owing to its qualitative criteria and challenges associated with obtaining accurate radiographs. This study aimed to quantify trochlear dysplasia using three-dimensional (3D) computed tomography (CT) reconstruction with novel parameters related to the transepicondylar axis (TEA). METHODS: Sixty patients were enrolled, including 20 with trochlear dysplasia and 40 healthy controls. The 3D CT model was generated using the Materialise Interactive Medical Image Control System software. The following six parameters were measured in eight consecutive planes at 15° intervals (planes 0-105): the distance from the TEA to the most cortical point of the lateral condyle ('LP-TEA', where LP stands for lateral peak), medial condyle ('MP-TEA', MP for medial peak) and deepest point of the trochlea ('TG-TEA', TG for trochlear groove). The distances from the medial epicondyle (MEC) to the corresponding TEA points were measured ('LP-MEC', 'MP-MEC' and 'TG-MEC'). RESULTS: In the dysplasia group, TG-TEA (planes 0, 15 and 30) and MP-MEC (planes 0, 15 and 30) were significantly greater than those in the control group (all p < 0.05 for planes of TG-TEA and MP-MEC). For type A dysplasia, LP-MEC (plane 0) was greater than that in the control group. For type B dysplasia, the MP-MEC (planes 0 and 15) and TG-TEA (planes 0 and 15) were greater than those of the control group. For type D dysplasia, MP-MEC (planes 0, 15 and 30) and TG-TEA (planes 0 and 15) were elevated. CONCLUSION: The 3D CT reconstruction analysis established a reproducible method for quantifying osseous trochlear morphology. Patients with trochlear dysplasia had a shallow TG and narrow medial trochlear width at tracking angles of 0°-30°. This finding corroborates the clinical manifestations of recurrent patellar instability that occur during early flexion. LEVEL OF EVIDENCE: Level III.

Direct gastric invasion from the liver metastasis of colorectal origin: A case report.

RATIONALE: Colorectal cancer is the third most common cancer diagnosed worldwide. At the time of diagnosis of colorectal cancer, one of the most common metastatic sites is liver. Gastric metastasis from colorectal origin is rare. Moreover, a direct invasion of the stomach, by hepatic metastasis from colorectal cancer, is particularly uncommon. PATIENT CONCERNS: A 56-year-old male patient with hematochezia was referred to our hospital. DIAGNOSIS: The patient was diagnosed with unresectable colorectal cancer because of the presence of >10 metastases involving both lobes of the liver. INTERVENTIONS AND OUTCOMES: After chemotherapy, the metastatic nodules in the liver nearly disappeared, except for a small nodule in segment VI. The patient underwent a radiofrequency ablation for the single lesion in the liver and laparoscopic low-anterior-resection for the primary tumor. Despite receiving various chemotherapy regimens, he experienced 6 recurrences, leading to 5 hepatectomies including a right hemi-hepatectomy, 1 pulmonary wedge resection, and 2 courses of radiation treatments. Lastly, a metastatic lesion in the liver was observed with invasion into the stomach. Subsequently, gastric wedge resection with resection of segments III and IV of the liver was performed. Direct invasion of the liver metastases into the stomach was confirmed histologically. LESSONS: The patient is still alive, with a good quality of life, even after more than 8 years since the initial diagnosis. In the last instance of metastatic recurrence, direct invasion from the liver metastases into the stomach was observed, which is rare, and there are currently no reported cases.

Dynamic Assessment of Modified Quick Sequential Organ Failure Assessment in Acutely Deteriorated Patients with Chronic Liver Disease.

Background/Aims: Quick sequential organ failure assessment (qSOFA) has been suggested to identify those who have poor outcomes in patients with suspected infection. We aimed to evaluate the ability of the modified qSOFA (m-qSOFA) to identify high-risk patients in acutely deteriorated patients with chronic liver disease (CLD), especially acute-on-chronic liver failure (ACLF). Methods: We used the data of both Korean Acute-on-Chronic Liver Failure (KACLiF) and Asian Pacific Association for the Study of the Liver ACLF Research Consortium (AARC) cohorts. qSOFA was modified by replacing the Glasgow Coma Scale with hepatic encephalopathy, and m-qSOFA≥2 was considered high. Results: Patients with high m-qSOFA had a significantly lower 1-month transplant-free survival (TFS) in both cohorts and higher organ failure development in KACLiF than patients with low m-qSOFA (Ps<0.05). Subgroup analysis by ACLF showed that patients with high m-qSOFA had lower TFS than patients with low m-qSOFA. m-qSOFA was an independent prognostic factor (hazard ratios (HR)=2.604, 95% confidence interval (CI) 1.353-5.013, P=0.004 in KACLiF and HR=1.904, 95% CI 1.484-2.442, P<0.001 in AARC). The patients with low m-qSOFA at baseline but high m-qSOFA on the 7th day had a significantly lower 1-month TFS than the patients with high m-qSOFA at baseline but low m-qSOFA on the 7th day (52.6% vs. 89.4%, P<0.001 in KACLiF and 26.9% vs. 61.5%, P<0.001 in AARC). Conclusion: Baseline and dynamic changes in m-qSOFA were useful to identify patients with a high risk of organ failure development and short-term mortality among CLD patients with acute deterioration.

Entosis: the core mechanism and crosstalk with other cell death programs.

Cell death pathways play critical roles in organism development and homeostasis as well as in the pathogenesis of various diseases. While studies over the last decade have elucidated numerous different forms of cell death that can eliminate cells in various contexts, how certain mechanisms impact physiology is still not well understood. Moreover, recent studies have shown that multiple forms cell death can occur in a cell population, with different forms of death eliminating individual cells. Here, we aim to describe the known molecular mechanisms of entosis, a non-apoptotic cell engulfment process, and discuss signaling mechanisms that control its induction as well as its possible crosstalk with other cell death mechanisms.

Robotic arm-assisted total knee arthroplasty in a patient with osteopetrosis: a case report and review of literature.

Osteopetrosis, a rare condition arising from osteoclast dysfunction, is characterised by increased bony density and obliteration of the intramedullary canal. While total knee arthroplasty (TKA) is preferred for osteoarthritic patients with osteopetrosis, inherent disease characteristics pose surgical challenges. This article presents a patient with osteopetrosis treated with robotic arm-assisted TKA (RA-TKA). This approach provided precise bone resection, obviates the need for intramedullary guides, minimizes saw disposal, and reduces surgical duration, with satisfactory short-term outcomes. RA-TKA may be an effective treatment for osteoarthritis in patients with osteopetrosis.

Mortality in patients with chronic hepatitis B treated with tenofovir or entecavir: A multinational study.

BACKGROUND AND AIM: The benefits of entecavir (ETV) versus tenofovir disoproxil fumarate (TDF) in reducing the development of chronic hepatitis B (CHB)-related hepatocellular carcinoma remain controversial. Whether mortality rates differ between patients with CHB treated with ETV and those treated with TDF is unclear. METHODS: A total of 2542 patients with CHB treated with either ETV or TDF were recruited from a multinational cohort. A 1:1 propensity score matching was performed to balance the differences in baseline characteristics between the two patient groups. We aimed to compare the all-cause, liver-related, and non-liver-related mortality between patients receiving ETV and those receiving TDF. RESULTS: The annual incidence of all-cause mortality in the entire cohort was 1.0/100 person-years (follow-up, 15 757.5 person-years). Patients who received TDF were younger and had a higher body mass index, platelet count, hepatitis B virus deoxyribonucleic acid levels, and proportion of hepatitis B e-antigen seropositivity than those who received ETV. The factors associated with all-cause mortality were fibrosis-4 index > 6.5 (hazard ratio [HR]/confidence interval [CI]: 3.13/2.15-4.54, P < 0.001), age per year increase (HR/CI: 1.05/1.04-1.07, P < 0.001), alanine aminotransferase level per U/L increase (HR/CI: 0.997/0.996-0.999, P = 0.003), and γ-glutamyl transferase level per U/L increase (HR/CI: 1.002/1.001-1.003, P < 0.001). No significant difference in all-cause mortality was observed between the ETV and TDF groups (log-rank test, P = 0.69). After propensity score matching, no significant differences in all-cause, liver-related, or non-liver-related mortality were observed between the two groups. CONCLUSIONS: Long-term outcomes of all-cause mortality and liver-related and non-liver-related mortality did not differ between patients treated with ETV and those receiving TDF.

Sex reporting of cells used in cancer research: A systematic review.

Sex and gender disparities in biomedical research have been emphasized to improve scientific knowledge applied for the health of both men and women. Despite sex differences in cancer incidence, prognosis, and responses to therapeutic agents, mechanistic explanations at molecular levels are far from enough. Recent studies suggested that cell sex is an important biological variable due to differences in sex chromosome gene expression and differences in events associated with developmental biology. The objective of this study was to analyze the reporting of sex of cells used in cancer research using articles published in Cancer Cell, Molecular Cancer, Journal of Hematology & Oncology, Journal for ImmunoTherapy of Cancer, and Cancer Research in 2020, and to examine whether there exists any sex bias. We found that the percentage of cells with sex notation in the article was 36.5%. Primary cells exhibited higher sex notation compared to cell lines. A higher percentage of female cells were used in cell cultures with sex notation. Also, sex-common cells omitted sex description more often compared to sex-specific cells. None of the cells isolated from embryo and esophagus reported the cell sex in the article. Our results indicate cell sex report in cancer research is limited to a small proportion of cells used in the study. These results call for acknowledging the sex of cells to increase the applicability of biomedical research discoveries.

Comparison of the Clinical Outcomes of Esophagectomy and Concurrent Chemoradiotherapy in Patients with Locally Advanced Esophageal Squamous Cell Carcinoma.

Background/Aims: The efficacy of concurrent chemoradiotherapy (CCRT) or esophagectomy for locally advanced esophageal squamous cell carcinoma (ESCC) is unclear. This study compared the survival and recurrence of patients with locally advanced ESCC after definitive CCRT and surgery. Methods: A retrospective study was conducted on patients with locally advanced ESCC who underwent CCRT or esophagectomy at Kosin University Gospel Hospital from January 2010 to December 2016. The patients' baseline characteristics, pathology, recurrence rate, and three-year/five-year overall survival were obtained. Results: This study evaluated ESCC patients with cT1-T2, N+ or cT3-T4, or N, who were treated by definitive CCRT (n=14) or esophagectomy (n=32). No significant difference was noted between the two groups, except for the location of the cancer and performance state. The respective three- and five-year overall survival rates were 30.8% and 23.1% in the CCRT group and 40.2% and 22.5% in the esophagectomy group (p=0.685). In the CCRT group, three patients (21.4%) had a complete response, and two (66.7%) had a recurrence. In the esophagectomy group, an R0 resection was achieved in 28 (87.5%) patients, and a recurrence occurred in 18 (64.3%). The median disease-free survival in the CCRT and esophagectomy groups was 14 and 17 months, respectively (p=0.882). Conclusions: These results showed no significant difference in survival between the definitive CCRT and surgery as the initial treatment. Nevertheless, larger prospective studies will be needed because of the retrospective nature and small number of patients in this study.

Elevated white blood cell count and long-term clinical outcomes of patients with vasospastic angina.

OBJECTIVES: Inflammation is known as one of key pathophysiologic mechanisms of coronary artery disease. We aimed to investigate the relationship between white blood cell (WBC) count and long-term clinical outcomes of patients with vasospastic angina (VA). METHODS: A total of 823 patients who were diagnosed as VA without significant coronary lesion by coronary angiography with ergonovine provocation test were enrolled for analysis. Patients were divided according to WBC count tertile at the time of diagnosis: group I, tertile 1 and 2 (n = 546, <7490/ml); group II, tertile 3 (n = 277, ≥7490/ml). Primary outcome was defined as major adverse cardiovascular events (MACE), a composite outcome of all-cause death, cardiac death, myocardial infarction (MI), readmission due to cardiac symptoms, and revascularization. RESULTS: Median follow-up duration was 4.3 years. No significant difference of primary outcome was observed between group I and group II (14.7% vs. 20.2%, hazard ratio (HR) 1.29, confidence interval (CI) 0.90-1.83, P = 0.162), while incidence of cardiac death and MI was significantly higher in group II (1.5% vs. 4.3%, HR 2.86, CI 1.14-7.17), P = 0.025). In multivariate Cox regression model, elevated WBC count at the time of diagnosis of VA was an independent predictor of MI (HR 3.43, CI 1.02-11.59, P = 0.047). CONCLUSION: Elevated WBC count at the time of diagnosis was associated with a significantly increased risk of cardiac death and MI during long-term follow-up in VA patients.

Increased Thalamic Connectivity in Juvenile Myoclonic Epilepsy Based on Electroencephalography Source-Level Analysis.

Background: This study investigated alterations in the intrinsic thalamic network of patients with juvenile myoclonic epilepsy (JME) based on an electroencephalography (EEG) source-level analysis. Materials and Methods: We enrolled patients newly diagnosed with JME as well as healthy controls. The assessments were conducted in the resting state. We computed sources based on the scalp electrical potentials using a minimum-norm imaging method and a standardized, low-resolution, brain electromagnetic tomography approach. To create a functional connectivity matrix, we used the Talairach atlas to define thalamic nodes and applied the coherence method to measure brain synchronization as edges. We then calculated the intrinsic thalamic network using graph theory. We compared the intrinsic thalamic network of patients with JME with those of healthy controls. Results: This study included 67 patients with JME and 66 healthy controls. EEG source-level analysis revealed significant differences in the intrinsic thalamic networks between patients with JME and healthy controls. The measures of functional connectivity (radius, diameter, and characteristic path length) were significantly lower in patients with JME than in healthy controls (radius: 2.769 vs. 3.544, p = 0.015; diameter: 4.464 vs. 5.443, p = 0.024; and characteristic path length: 2.248 vs. 2.616, p = 0.046). Conclusions: We demonstrated alterations in the intrinsic thalamic network in patients with JME compared with those in healthy controls based on the EEG source-level analysis. These findings indicated increased thalamic connectivity in the JME group. These intrinsic thalamic network changes may be related to the pathophysiology of JME.

Minimal impact of beam projection angle deviations in skyline (Laurin) view and the efficacy of the anterior border of proximal tibia as a guiding landmark.

OBJECTIVE: Obtaining an optimal knee skyline view is challenging due to inaccuracies in beam projection angles (BPAs) and soft tissue obscuring bony landmarks. This study aimed to assess the impact of BPA deviations on patellofemoral index measurements and assessed the anterior border of the proximal tibia as an anatomic landmark for guiding BPAs. MATERIALS AND METHODS: This retrospective study consisted of three parts. The first was a simulation study using 52 CT scans of knees with a 20° flexion contracture to replicate the skyline (Laurin) view. Digitally reconstructed radiographs simulated neutral, 5° downward, and 5° upward tilt BPAs. Five patellofemoral indices (sulcus angle, congruence angle, patellar tilt angle, lateral facet angle, and bisect ratio) were measured and compared. The second part was a proof of concept study on 162 knees to examine patellar indices differences across these BPAs. Lastly, the alignment of the anterior border of the proximal tibia with the BPA tangential to the patellar articular surface was tested from the CT scans. RESULTS: No significant differences in patellofemoral indices were found across various BPAs in both the simulation and proof of concept studies (all p > 0.05). The angle between the anterior border of the proximal tibia and the patellar articular surface was 1.5 ± 5.3°, a statistically significant (p = 0.037) yet clinically acceptable deviation. CONCLUSION: Patellofemoral indices in skyline view remained consistent regardless of BPA deviations. The anterior border of the proximal tibia proved to be an effective landmark for accurate beam projection.

Dienogest attenuates STAT3 activation in ovarian endometriotic cysts.

OBJECTIVE: Recent studies have suggested that endometriosis could be the result of excessive activation of signal transducer and activator of transcription 3 (STAT3), which is associated with the regulation of essential cellular mechanisms such as proliferation, invasion, and apoptosis. That finding implies that regulating STAT3 activation could play a key role in treating endometriosis. In the present study, we aimed to evaluate whether the anti-endometriotic effects of dienogest is mediated by the regulation of STAT3 activation. STUDY DESIGN: STAT3 activation was evaluated in normal endometrial and ovarian endometriotic tissues obtained from patients with/without preoperative dienogest treatment. A subsequent in vitro analysis with endometriotic cyst stromal cells (ECSCs) was used to confirm the direct influence of dienogest in STAT3 activation. RESULT: STAT3 activation is significantly higher in endometriotic tissues from non-treated patients than in normal endometrial tissues, and that difference is reversed by preoperative administration of dienogest. Similarly, the inhibitory effects of dienogest on STAT3 activation are demonstrated by in vitro results showing that dienogest treatment significantly inhibits IL-6-stimulated STAT3 activation in cultured ECSCs. That inhibition was accompanied by decreased expression of proliferative (PCNA), invasive (MMP-2), and anti-apoptotic (BCL-2) proteins. Furthermore, downregulating STAT3 activity with siRNA decreased PCNA, MMP-2, and BCL-2 expression in IL-6-treated ECSCs. CONCLUSION: Dienogest inhibits STAT3 activation in ECSCs, which affects their proliferation, invasiveness, and apoptosis.

Current evidence for prognostic benefit of intravascular imaging-guided percutaneous coronary intervention in chronic total occlusion intervention.

Although percutaneous coronary intervention (PCI) for chronic total occlusion (CTO) has been increasing in recent years, CTO PCI is still one of the most challenging procedures with relatively higher rates of procedural complications and adverse clinical events after PCI. Due to the innate limitations of invasive coronary angiography, intravascular imaging (IVI) has been used as an adjunctive tool to complement PCI, especially in complex coronary artery disease. Considering the complexity of CTO lesions, the role of IVI is particularly important in CTO intervention. IVI has been a useful adjunctive tool in every step of CTO PCI including assisted wire crossing, confirmation of wire location within CTO segment, and stent optimization. The meticulous use of IVI has been one of the greatest contributors to recent progress of CTO PCI. Nevertheless, studies evaluating the role of IVI during CTO PCI are limited. The current review provides a comprehensive overview of the mechanistic advantages of IVI in CTO PCI, summarizes previous studies and trials, and presents future perspective of IVI in CTO PCI.

Preserving coronal knee alignment of the knee (CPAK) in unicompartmental knee arthroplasty correlates with superior patient-reported outcomes.

BACKGROUND: The optimal alignment target for unicompartmental knee arthroplasty (UKA) remains controversial, and literature suggests that its impact on patient-reported outcome measures (PROMs) varies. The purpose of this study was to identify the relationship between changes in the coronal plane alignment of the knee (CPAK) and PROMs in patients who underwent UKA. METHODS: A retrospective analysis of 164 patients who underwent UKA was conducted. The types of CPAK types categorized into unchanged, minor (shift to an adjacent CPAK type, e.g., type I to II or type I to IV), and major changes (transitioning to a nearby diagonal CPAK type or two types across, such as type I to V or type I to III). PROMs were assessed preoperatively and 1 year postoperatively using the Hospital for Special Surgery (HSS) scores, Knee Society (KS) scores, Western Ontario and McMaster Universities Osteoarthritis Index (WOMAC), and Forgotten Joint Scores (FJS). Comparison was performed between patients who experienced and who did not experience any changes in the CPAK. RESULTS: Patients with preserved native CPAK alignment demonstrated significantly superior 1 year postoperative outcomes, with higher HSS, KS knee, and WOMAC pain scores (p = 0.042, p = 0.009, and p = 0.048, respectively). Meanwhile, the degree of change in CPAK did not significantly influence the PROMs, and patients who experienced minor and major changes in the CPAK showed comparable outcomes. CONCLUSION: Preserving the native CPAK in UKA procedures is important for achieving favorable clinical outcomes at 1 year postoperative. The extent of change in the CPAK type exerted a limited impact on PROMs, thus emphasizing the importance of change in alignment itself.

[A Case of Type II Achalasia Occurring in a Nonagenarian Diagnosed with Acute Food Impaction].

Achalasia is an esophageal motility disorder characterized by loss of esophageal peristalsis and impaired relaxation of the lower esophageal sphincter. Patients with achalasia often complain of persistent symptoms for several years before diagnosis. On the other hand, achalasia diagnosed as a sudden esophageal food impaction is uncommon, and no report has been issued on the diagnosis and successful treatment of achalasia in a 95-year-old patient. We report a case of achalasia diagnosed by high-resolution esophageal manometry and timed barium esophagography after food material removal by endoscopy in a 95-year-old woman who visited the hospital due to sudden esophageal food impaction and was successfully treated by endoscopic balloon dilatation.

The novel linkage between Fuz and Gpr161 genes regulates sonic hedgehog signaling during mouse embryonic development.

Sonic hedgehog (Shh) signaling regulates embryonic morphogenesis utilizing primary cilia, the cell antenna acting as a signaling hub. Fuz, an effector of planar cell polarity (PCP) signaling, involves Shh signaling via cilia formation, while the G protein-coupled receptor 161 (Gpr161) is a negative regulator of Shh signaling. The range of phenotypic malformations observed in mice bearing mutations in either of these two genes is similar; however, their functional relations have not been previously explored. This study identified the genetic and biochemical link between Fuz and Gpr161 in mouse embryonic development. Fuz was genetically epistatic to Gpr161 via Shh signaling during mouse embryonic development. The FUZ biochemically interacted with GPR161, and Fuz regulated Gpr161 ciliary trafficking via ß-arrestin2. Our study suggested the novel Gpr161-Fuz axis that regulates Shh signaling during mouse embryonic development.