Purpose: We present a case of anterior displacement of the lens-iris diaphragm associated with Vogt–Koyanagi–Harada (VKH) disease.Case summary: A 35-year-old woman presented with decreased vision in her right eye. Examination revealed corrected visual acuity of 0.6 in the right eye and 1.0 in the left eye. Intraocular pressure (IOP) was 14 and 16 mmHg in the right and left eye, respectively. Spherical equivalent (SE) was -17.25 D in the right eye and -9.75 D in the left eye. Slit lamp examination and three-dimensional anterior segment photography revealed anterior displacement of the lens-iris diaphragm in both eyes. Two days later, the left eye developed similar symptoms with an SE of -15.5 D. Fundus examination revealed serous retinal detachment and fluorescein fundus photography demonstrated focal leakage leading to the diagnosis of atypical VKH disease. The patient was treated with oral corticosteroids and her symptoms resolved after 3 weeks. The Final SE was -10.25 D in the right eye and -9.75 D in the left eye. Conclusions We suggest there is an association between atypical VKH and anterior lens-iris diaphragm displacement in the absence of elevated IOP; early myopic shift may be associated with this presentation. Therefore, patients with isolated lens-iris diaphragm displacement, particularly those without a history of medications should be monitored for the possibility of developing VKH disease.

Purpose: We present a case of anterior displacement of the lens-iris diaphragm associated with Vogt–Koyanagi–Harada (VKH) disease.Case summary: A 35-year-old woman presented with decreased vision in her right eye. Examination revealed corrected visual acuity of 0.6 in the right eye and 1.0 in the left eye. Intraocular pressure (IOP) was 14 and 16 mmHg in the right and left eye, respectively. Spherical equivalent (SE) was -17.25 D in the right eye and -9.75 D in the left eye. Slit lamp examination and three-dimensional anterior segment photography revealed anterior displacement of the lens-iris diaphragm in both eyes. Two days later, the left eye developed similar symptoms with an SE of -15.5 D. Fundus examination revealed serous retinal detachment and fluorescein fundus photography demonstrated focal leakage leading to the diagnosis of atypical VKH disease. The patient was treated with oral corticosteroids and her symptoms resolved after 3 weeks. The Final SE was -10.25 D in the right eye and -9.75 D in the left eye. Conclusions We suggest there is an association between atypical VKH and anterior lens-iris diaphragm displacement in the absence of elevated IOP; early myopic shift may be associated with this presentation. Therefore, patients with isolated lens-iris diaphragm displacement, particularly those without a history of medications should be monitored for the possibility of developing VKH disease.

Purpose: We present a case of anterior displacement of the lens-iris diaphragm associated with Vogt–Koyanagi–Harada (VKH) disease.Case summary: A 35-year-old woman presented with decreased vision in her right eye. Examination revealed corrected visual acuity of 0.6 in the right eye and 1.0 in the left eye. Intraocular pressure (IOP) was 14 and 16 mmHg in the right and left eye, respectively. Spherical equivalent (SE) was -17.25 D in the right eye and -9.75 D in the left eye. Slit lamp examination and three-dimensional anterior segment photography revealed anterior displacement of the lens-iris diaphragm in both eyes. Two days later, the left eye developed similar symptoms with an SE of -15.5 D. Fundus examination revealed serous retinal detachment and fluorescein fundus photography demonstrated focal leakage leading to the diagnosis of atypical VKH disease. The patient was treated with oral corticosteroids and her symptoms resolved after 3 weeks. The Final SE was -10.25 D in the right eye and -9.75 D in the left eye. Conclusions We suggest there is an association between atypical VKH and anterior lens-iris diaphragm displacement in the absence of elevated IOP; early myopic shift may be associated with this presentation. Therefore, patients with isolated lens-iris diaphragm displacement, particularly those without a history of medications should be monitored for the possibility of developing VKH disease.

Purpose: We used a noninvasive ocular surface analyzer to explore changes in the ocular surface parameters of patients who underwent 25-gauge pars plana vitrectomy (PPV). Methods: The medical records of 82 patients (163 eyes) who underwent PPV were retrospectively reviewed. The non-invasive tear film break-up time (NIBUT), the lipid layer thickness, meibomian gland loss status, and the tear meniscus height were measured before, and 1 and 3 months after treatment. Consecutive changes in the ocular surface indices of operative and non-operative fellow eyes were statistically compared. Also, factors that reduced the NIBUT at 1 month after surgery were analyzed. Results: One month after surgery, the NIBUT was significantly decreased in the operative group compared to before surgery (p = 0.006). Compared to non-operative eyes, the NIBUT of operative eyes decreased significantly 1 month after surgery (p = 0.003). Older age and lower preoperative NIBUT (p = 0.029, p = 0.002) were significantly associated with lower NIBUT 1 month after surgery. Conclusions Twenty-five gauge PPV significantly reduces the NIBUT 1 month after surgery.

Objective: To investigate whether reader training improves the performance and agreement of radiologists in interpreting unenhanced breast magnetic resonance imaging (MRI) scans using diffusion-weighted imaging (DWI). Materials and Methods: A study of 96 breasts (35 cancers, 24 benign, and 37 negative) in 48 asymptomatic women was performed between June 2019 and October 2020. High-resolution DWI with b-values of 0, 800, and 1200 sec/mm 2 was performed using a 3.0-T system. Sixteen breast radiologists independently reviewed the DWI, apparent diffusion coefficient maps, and T1-weighted MRI scans and recorded the Breast Imaging Reporting and Data System (BI-RADS) category for each breast. After a 2-h training session and a 5-month washout period, they re-evaluated the BI-RADS categories. A BI-RADS category of 4 (lesions with at least two suspicious criteria) or 5 (more than two suspicious criteria) was considered positive.The per-breast diagnostic performance of each reader was compared between the first and second reviews. Inter-reader agreement was evaluated using a multi-rater κ analysis and intraclass correlation coefficient (ICC). Results: Before training, the mean sensitivity, specificity, and accuracy of the 16 readers were 70.7% (95% confidence interval [CI]: 59.4–79.9), 90.8% (95% CI: 85.6–94.2), and 83.5% (95% CI: 78.6–87.4), respectively. After training, significant improvements in specificity (95.2%; 95% CI: 90.8–97.5; P = 0.001) and accuracy (85.9%; 95% CI: 80.9–89.8; P = 0.01) were observed, but no difference in sensitivity (69.8%; 95% CI: 58.1–79.4; P = 0.58) was observed. Regarding inter-reader agreement, the κ values were 0.57 (95% CI: 0.52–0.63) before training and 0.68 (95% CI: 0.62–0.74) after training, with a difference of 0.11 (95% CI: 0.02–0.18; P = 0.01). The ICC was 0.73 (95% CI: 0.69–0.74) before training and 0.79 (95% CI: 0.76–0.80) after training (P = 0.002). Conclusion Brief reader training improved the performance and agreement of interpretations by breast radiologists using unenhanced MRI with DWI.

Background/Aims: Unlike other gastrointestinal tract cancers, there are relatively few reports on the clinical significance of circulating tumor cells (CTCs) and TWIST, a marker of epithelial-mesenchymal transition, in patients with esophageal squamous cell carcinoma (ESCC). This study aimed to evaluate the clinical significance of TWIST expression in CTCs in patients with ESCC. Methods: Peripheral blood samples for CTC analyses were prospectively obtained from 52 patients with ESCC prior to treatment between September 2017 and September 2019. CTCs were detected using a centrifugal microfluidic system based on a fluid-assisted separation technique, and CTCs positive for TWIST on immunostaining were defined as TWIST (+) CTCs. Results: Of the 52 patients with ESCC, CTCs and TWIST (+) CTCs were detected in 44 patients (84.6%) and 39 patients (75.0%), respectively. The CTC and TWIST (+) CTC counts were significantly higher in patients aged >65 years and those who had a large tumor (>3 cm) thanin those aged ≤65 years and those who had a small tumor (≤3 cm), respectively. There were nodifferences in CTC and TWIST (+) CTC counts according to tumor location, histologic grade, or TNM stage. TWIST (+) CTCs were significantly associated with histologic grade; a proportion of TWIST (+) CTCs ≥0.5 was significantly associated with advanced histologic grade. Other clini-copathologic characteristics such as sex, age, tumor location, tumor size, and TNM stages were not significantly associated with TWIST (+) CTCs. Conclusions Our study showed that TWIST (+) CTCs were frequently detected in patients with ESCC, and a high proportion of TWIST (+) CTCs was associated with poor differentiation

Background/Aims: Unlike other gastrointestinal tract cancers, there are relatively few reports on the clinical significance of circulating tumor cells (CTCs) and TWIST, a marker of epithelial-mesenchymal transition, in patients with esophageal squamous cell carcinoma (ESCC). This study aimed to evaluate the clinical significance of TWIST expression in CTCs in patients with ESCC. Methods: Peripheral blood samples for CTC analyses were prospectively obtained from 52 patients with ESCC prior to treatment between September 2017 and September 2019. CTCs were detected using a centrifugal microfluidic system based on a fluid-assisted separation technique, and CTCs positive for TWIST on immunostaining were defined as TWIST (+) CTCs. Results: Of the 52 patients with ESCC, CTCs and TWIST (+) CTCs were detected in 44 patients (84.6%) and 39 patients (75.0%), respectively. The CTC and TWIST (+) CTC counts were significantly higher in patients aged >65 years and those who had a large tumor (>3 cm) thanin those aged ≤65 years and those who had a small tumor (≤3 cm), respectively. There were nodifferences in CTC and TWIST (+) CTC counts according to tumor location, histologic grade, or TNM stage. TWIST (+) CTCs were significantly associated with histologic grade; a proportion of TWIST (+) CTCs ≥0.5 was significantly associated with advanced histologic grade. Other clini-copathologic characteristics such as sex, age, tumor location, tumor size, and TNM stages were not significantly associated with TWIST (+) CTCs. Conclusions Our study showed that TWIST (+) CTCs were frequently detected in patients with ESCC, and a high proportion of TWIST (+) CTCs was associated with poor differentiation

Vacuolar protein sorting-associated protein 13B (VPS13B), also known as COH1, is one of the VPS13 family members which is involved in transmembrane transport, Golgi integrity, and neuritogenesis. Mutations in the VPS13B gene are associated with Cohen syndrome and other cognitive disorders such as intellectual disabilities and autism spectrum disorder (ASD). However, the patho-physiology of VPS13B-associated cognitive deficits is unclear, in part, due to the lack of animal models. Here, we generated a Vps13b exon 2 deletion mutant mouse and analyzed the behavioral phenotypes. We found that Vps13b mutant mice showed reduced activity in open field test and significantly shorter latency to fall in the rotarod test, suggesting that the mutants have motor deficits. In addition, we found that Vps13b mutant mice showed deficits in spatial learning in the hidden platform version of the Morris water maze. The Vps13b mutant mice were normal in other behaviors such as anxiety-like behaviors, working memory and social behaviors. Our results suggest that Vps13b mutant mice may recapitulate key clinical symptoms in Cohen syndrome such as intellectual disability and hypotonia. Vps13b mutant mice may serve as a useful model to investigate the pathophysiology of VPS13B-associated disorders.
Animals ; Autism Spectrum Disorder ; Cognition Disorders ; Exons ; Humans ; Intellectual Disability ; Learning Disorders ; Memory, Short-Term ; Mice ; Models, Animal ; Muscle Hypotonia ; Phenotype ; Rotarod Performance Test ; Social Behavior ; Spatial Learning ; Water

STUDY DESIGN: Retrospective study. OBJECTIVES: The goal of this study was to evaluate the risk factors of osteoporotic vertebral fractures (OVFs) in patients with Cushing syndrome. SUMMARY OF LITERATURE REVIEW: In most reports, vertebral fractures in Cushing syndrome have been found to be related to osteoporosis. However, few studies have analyzed the clinical risk factors for OVFs. MATERIALS AND METHODS: Thirty-two patients with Cushing syndrome who visited the orthopaedic department complaining of back pain were included in this study. Standing lateral X-rays were performed to evaluate the presence of vertebral fractures, and bone mineral density (BMD) was measured. RESULTS: Of the 32 patients with Cushing syndrome with back pain, 8 (25%) were diagnosed with OVFs using morphometric criteria. The average weight and body mass index of the vertebral fracture group (VF group) were significantly higher than the values observed in the non-vertebral fracture group (non-VF group) (p=0.004, p=0.018). Lumbar BMD was significantly lower in the VF group (p=0.006). A risk factor for OVFs in Cushing syndrome was osteoporosis (odds ratio=18.56, 95% confidence interval=1.72-200.21, p=0.016) regardless of gender, obesity, menopause, or urine free cortisol levels. CONCLUSIONS: OVFs in Cushing syndrome have been associated with overweight, and overweight is an indicator of compliance in the treatment of Cushing syndrome. Therefore, weight reduction and the prevention of osteoporosis should be emphasized in patients with Cushing syndrome to prevent OVFs.
Back Pain ; Body Mass Index ; Bone Density ; Compliance ; Cushing Syndrome* ; Female ; Humans ; Hydrocortisone ; Menopause ; Obesity ; Osteoporosis ; Overweight ; Retrospective Studies ; Risk Factors* ; Weight Loss