Determining the clinicopathological significance of the VI-RADS ≧4 group: a retrospective study.

BACKGROUND: The Vesical Imaging Reporting and Data System (VI-RADS) is widely used for predicting muscle-invasive bladder cancer (MIBC). This study aimed to determine the clinicopathological significance of the VI-RADS ≧4 (VI≧4) group. METHODS: Patients who underwent transurethral resections of bladder tumors during the study period and preoperative magnetic resonance imaging were considered. The patients were pathologically diagnosed with urothelial carcinoma (UC). We first compared the results of patients with VI-RADS scores of 3 and 4 to determine the cut-off score for MIBC; thereafter, the patients were divided into the VI≧4 and VI-RADS ≦3 (VI≦3) groups using VI-RADS. The clinicopathological significance of the VI≧4 group was examined retrospectively by comparing the characteristics of each group. RESULTS: In total, 121 cases were examined, of which 28 were pathologically diagnosed with MIBC. Of the 28 MIBC cases, three (10.7%) had a VI-RADS score of ≦3, and 25 (89.3%) had a VI-RADS score of ≧4. Of the 93 NMIBC cases, 86 (92.5%) had a VI-RADS score of ≦3, and seven (7.5%) had a VI-RADS score of ≧4. The diagnostic performance of the VI-RADS with a cut-off score of 4 was 89.3% for sensitivity, 92.5% for specificity, and an area under the curve (AUC) of 0.91. Contrastingly, for a cut-off score of 3, the sensitivity was 89.3%, specificity was 62.0%, and AUC was 0.72. A VI-RADS score of ≥ 4 could predict MIBC. In the VI≧4 group, 30 of 32 (93.8%) patients had high-grade tumors. The VI≧4 group had significantly more high-grade bladder cancers than the VI≦3 group (p < 0.001 OR = 31.77 95%CI:8.47-1119.07). In addition, the VI≧4 group had more tumor necrosis (VI≧4 vs VI≦3, p < 0.001 OR = 7.46 95%CI:2.61-21.34) and more UC variant cases (VI≧4 vs VI≦3, p = 0.034 OR = 3.28 95%CI:1.05-10.25) than the VI≦3 group. CONCLUSIONS: This study suggests that VI-RADS has a high diagnostic performance in predicting MIBC and that VI-RADS could diagnose high-grade tumors, necrosis, and UC variants.

Index tumor location affected early biochemical recurrence after radical prostatectomy in patients with negative surgical margin: a retrospective study.

BACKGROUND: Index tumors are the most aggressive tumors of the prostate. However, their clinical significance remains unclear. This study aimed to assess the incidence of index tumor location according to the zonal origin and whether these locations affect the prognosis after radical prostatectomy in patients with negative surgical margins. METHODS: This single-centered, retrospective study evaluated 1,109 consecutive patients who underwent radical prostatectomies. An index tumor was defined as the largest tumor in the prostate gland. We detected these locations based on McNeal's zonal origin using whole-mount sections. Biochemical recurrence (BCR) free survival curves were generated using the Kaplan-Meier method. Univariate and multivariate analyses using the Cox proportional hazards model were performed to determine the predictive factors for early BCR (within 1-year). RESULTS: A total of 621 patients with negative surgical margins who did not receive adjuvant therapy were included in this study. The index tumor were located in the transitional zone in 191 patients (30.8%), the peripheral zone in 399 patients (64.3%), and the central zone in 31 patients (5.0%). In total, 22 of 621 patients (3.5%) experienced early BCR and 70 patients (11.2%) experienced overall BCR at a median follow-up of 61.7 months. According to the index tumor location, the early BCR-free rates were 99.5%, 95.7 %, and 83.3% in the transitional, peripheral, and central zones, respectively. On multivariate analysis, the index tumor in the central zone was an independent predictor of early BCR with negative surgical margins following radical prostatectomy, followed by prostatectomy pathological grade, index tumor in the peripheral zone, and high prostate-specific antigen level. CONCLUSIONS: We assessed the significance of index tumor location in patients with negative surgical margins following radical prostatectomy. Index tumors located in the central zone, although infrequent, were the strongest predictive factors for early BCR. Our results may allow urologists and patients to reconsider the therapeutic strategies for prostate cancer.

Novel partial deletions, frameshift and missense mutations of CSF1R in patents with CSF1R-related leukoencephalopathy.

BACKGROUND AND PURPOSE: Colony-stimulating factor 1 receptor (CSF1R)-related leukoencephalopathy is an adult-onset leukoencephalopathy caused by mutations in CSF1R. The present study aimed to explore the broader genetic spectrum of CSF1R-related leukoencephalopathy in association with clinical and imaging features. METHODS: Mutational analysis of CSF1R was performed for 100 consecutive patients with adult-onset leukoencephalopathy. Sequence and copy number variation (CNV) analyses of CSF1R were performed. The genomic ranges of the deletions were determined by long-read sequencing. Ligand-dependent autophosphorylation of CSF1R was examined in cells expressing the CSF1R mutants identified in this study. RESULTS: CSF1R mutations were identified in 15 patients, accounting for 15% of the adult-onset leukoencephalopathy cases. Seven novel and five previously reported CSF1R mutations were identified. The novel mutations, including three missense and one in-frame 3 bp deletion, were located in the tyrosine kinase domain (TKD) of CSF1R. Functional assays revealed that none of the novel mutations in the TKD showed autophosphorylation of CSF1R. Two partial deletions of CSF1R were identified that resulted in lack of the C-terminal region, including the distal TKD, in two patients. Various clinical features including cognitive impairment, psychiatric symptoms and gait disturbance were observed. Various degrees of the white matter lesions and corpus callosum abnormalities on magnetic resonance imaging and characteristic calcifications on computed tomography were observed as imaging features. CONCLUSIONS: Our results highlight the importance of examining the CNV of CSF1R even when Sanger or exome sequencing reveals no CSF1R mutations. Genetic examination of sequences and CNV analyses of CSF1R are recommended for an accurate diagnosis of CSF1R-related leukoencephalopathy.

Differential diagnosis and prognosis of small renal masses: association with collateral vessels detected using contrast-enhanced computed tomography.

BACKGROUND: Active surveillance (AS) is one of the treatment methods for patients with small renal masses (SRMs; < 4 cm), including renal cell carcinomas (RCCs). However, some small RCCs may exhibit aggressive neoplastic behaviors and metastasize. Little is known about imaging biomarkers capable of identifying potentially aggressive small RCCs. Contrast-enhanced computed tomography (CECT) often detects collateral vessels arising from neoplastic angiogenesis in RCCs. Therefore, this study aimed to evaluate the association between SRM differential diagnoses and prognoses, and the detection of collateral vessels using CECT. METHODS: A total of 130 consecutive patients with pathologically confirmed non-metastatic SRMs (fat-poor angiomyolipomas [fpAMLs; n = 7] and RCCs [n = 123]) were retrospectively enrolled. Between 2011 and 2019, SRM diagnoses in these patients were confirmed after biopsy or surgical resection. All RCCs were surgically resected. Regardless of diameter, a collateral vessel (CV) was defined as any blood vessel connecting the tumor from around the kidney using CECT. First, we analyzed the role of CV-detection in differentiating between fpAML and RCC. Then, we evaluated the sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), and accuracy of RCC diagnosis based on CV-detection using CECT. We also assessed the prognostic value of CV-detection using the Fisher exact test, and Kaplan-Meier method and the log-rank test. RESULTS: The sensitivity, specificity, PPV, NPV, and accuracy of CV-detection for the diagnosis of small RCCs was 48.5, 45.5, 100, 100, and 9.5% respectively. Five of 123 (4.1%) patients with RCC experienced recurrence. CV-detection using CECT was the only significant factor associated with recurrence (p = 0.0177). Recurrence-free survival (RFS) was significantly lower in patients with CV compared with in those without CV (5-year RFS 92.4% versus 100%, respectively; p = 0.005). In addition, critical review of the CT images revealed the CVs to be continuous with the venous vessels around the kidney. CONCLUSIONS: The detection of CVs using CECT is useful for differentiating between small fpAMLs and RCCs. CV-detection may also be applied as a predictive parameter for small RCCs prone to recurrence after surgical resection. Moreover, AS could be suitable for small RCCs without CVs.

Risk factor analysis of intravesical recurrence after retroperitoneoscopic nephroureterectomy for upper tract urothelial carcinoma.

BACKGROUND: One of the major concerns of patients with upper tract urothelial carcinoma (UTUC) treated with nephroureterectomy is intravesical recurrence (IVR). The purpose of the present study was to investigate the predictive risk factors for IVR after retroperitoneoscopic nephroureterectomy (RNU) for UTUC. METHODS: Clinicopathological and surgical information were collected from the medical records of 73 patients treated with RNU for non-metastatic UTUC, without a history of or concomitant bladder cancer. The association between IVR after RNU and clinicopathological and surgery-related factors, including preoperative urine cytology and pneumoretroperitoneum time, was analyzed using the Fisher exact test. RESULTS: During the median follow-up time of 39.1 months, 18 (24.7%) patients had subsequent IVR after RNU. The 1- and 3-year IVR-free survival rates were 85.9% and 76.5%, respectively. The Fisher exact test revealed that prolonged pneumoretroperitoneum time of ≥ 210 min was a risk factor for IVR in 1 year after RNU (p = 0.0358) and positive urine cytology was a risk factor for IVR in 3 years after RNU (p = 0.0352). CONCLUSIONS: In UTUC, the occurrences of IVR in 1 and 3 years after RNU are highly probable when the pneumoretroperitoneum time is prolonged (≥ 210 min) and in patients with positive urine cytology, respectively. Strict follow-up after RNU is more probable recommended for these patients.

Efficacy of Laparoscopic Partial Cystectomy with a Transurethral Resectoscope in Patients with Bladder Endometriosis: See-Through Technique.

PURPOSE: Bladder endometriosis (BE) is rare. Deep invasive endometriosis is difficult to control with medications alone; such cases need surgical treatment. Good results of laparoscopic partial cystectomy with a transurethral (TU) resectoscope by the see-through technique for patients with BE are reported. MATERIALS AND METHODS: From January 2008 to February 2016, 12 cases of symptomatic BE were seen in our institution. The chief complaints of 9 cases were micturition pain during menstruation. Preoperative cystoscopy showed a bladder mass with blueberry spots. All surgeries were performed under general anesthesia. Laparoscopic surgery was performed with a fan of 4 ports in the lower abdomen. First, the uterus and bilateral ovaries were checked. Then, the TU resectoscope was inserted. When the affected bladder wall was identified, it was again observed with the laparoscopic light source off, which made it possible to observe the twilight leaking inside from the bladder. This twilight came from the light source of the TU resectoscope via the unaffected bladder wall. In contrast, the thickness of the affected wall prevented the light from inside the bladder from passing through it. We call this the "see-through technique." The tumor was then safely dissected with both laparoscopic and TU resection procedures. Finally, the bladder was sutured by laparoscopic procedures using absorbable sterile surgical suture. The urethral catheter was removed after cystography 7 days after the operation. RESULTS: The surgical margins of all cases were negative. There has been no recurrence of BE so far in any patients. There were no major adverse events perioperatively and the urinary symptoms improved in all cases. CONCLUSIONS: By laparoscopic partial cystectomy assisted with a TU resectoscope and see-through technique, the edge of BE could be easily and precisely identified. These procedures are effective and safe for BE surgical treatment.

Tumour and immune cell dynamics explain the PSA bounce after prostate cancer brachytherapy.

BACKGROUND: Interstitial brachytherapy for localised prostate cancer may be followed by transient increases in prostate-specific antigen (PSA) that resolve without therapy. Such PSA bounces may be associated with an improved outcome but often cause alarm in the patient and physician, and have defied explanation. METHODS: We developed a mathematical model to capture the interactions between the tumour, radiation and anti-tumour immune response. The model was fitted to data from a large cohort of patients treated exclusively with interstitial brachytherapy. Immunohistological analysis for T-cell infiltration within the same tumours was also performed. RESULTS: Our minimal model captures well the dynamics of the tumour after therapy, and suggests that a strong anti-tumour immune response coupled with the therapeutic effect of radiation on the tumour is responsible for the PSA bounce. Patients who experience a PSA bounce had a higher density of CD3 and CD8 cells within the tumour that likely contribute to the PSA bounce and the overall better outcomes observed. CONCLUSIONS: Our observations provide a novel and unifying explanation for the PSA bounce in patients with early prostate cancer and also have implications for the use of immune-based therapies in such patients to improve outcomes.

Habitat connectivity and resident shared predators determine the impact of invasive bullfrogs on native frogs in farm ponds.

Habitat connectivity is considered to have an important role on the persistence of populations in the face of habitat fragmentation, in particular, for species with conservation concern. However, it can also impose indirect negative effects on native species through the spread of invasive species. Here, we investigated direct and indirect effects of habitat connectivity on populations of invasive bullfrogs and native wrinkled frogs and how these effects are modified by the presence of common carp, a resident shared predator, in a farm pond system in Japan. The distribution pattern analysis using a hierarchical Bayesian modelling indicated that bullfrogs had negative effects on wrinkled frogs, and that these negative effects were enhanced with increasing habitat connectivity owing to the metapopulation structure of bullfrogs. The analysis also suggested that common carp mitigated these impacts, presumably owing to a top-down trophic cascade through preferential predation on bullfrog tadpoles. These presumed interspecific interactions were supported by evidence from laboratory experiments, i.e. predation by carp was more intense on bullfrog tadpoles than on wrinkled frog tadpoles owing to the difference in refuge use. Our results indicate that metacommunity perspectives could provide useful insights for establishing effective management strategies of invasive species living in patchy habitats.

Real-World Insights into Efficacy and Safety of Enfortumab Vedotin in Japanese Patients with Metastatic Urothelial Carcinoma: Findings, Considerations, and Future Directions.

This study presents the enfortumab vedotin (EV) treatment analysis at our institution. We retrospectively analyzed patients with metastatic urothelial cancer (mUC) treated with EV between January 2021 and October 2023. EV was administered at 1.25 mg/kg on days 1, 8, and 15 in a 28-day cycle. Whole-body computed tomography scans were performed to assess the treatment response. Patient characteristics, treatment histories, response rates, progression-free survival, and adverse events were evaluated. Response rates were determined, and adverse events were recorded. Among the 20 patients, 70% were male and 65% had bladder tumors. Most patients had lung (65%) or lymph node (65%) metastases. The median follow-up was 11.2 months, with 45% of the patients succumbing to the disease. The overall response rate was 55%. The median progression-free and median overall survivals were 10.5 and 12.9 months, respectively. Severe adverse events occurred in 35% of patients. In this real-world study, EV demonstrated promising efficacy and manageable safety profiles in Japanese patients with mUC. The study's results were consistent with previous clinical trials, although a longer follow-up was required. Our findings support EV use as a treatment option for patients with mUC who exhibit disease progression after platinum-based chemotherapy and immune-checkpoint inhibitor therapy.

snRNAs from Radical Prostatectomy Specimens Have the Potential to Serve as Prognostic Factors for Clinical Recurrence after Biochemical Recurrence in Patients with High-Risk Prostate Cancer.

In patients with high-risk prostate cancer (HRPC) after radical prostatectomy (RP), biochemical recurrence (BCR) increases the risk of distant metastasis. Accordingly, additional prognostic biomarkers are required to identify the subpopulation of patients with HRPC who develop clinical recurrence (CR) after BCR. The objective of this study was to identify biomarkers in formalin-fixed paraffin-embedded (FFPE) RP samples that are prognostic for CR in patients with HRPC who experience BCR after RP (post-RP BCR). First, we performed a preliminary RNA sequencing analysis to comprehensively profile RNA expression in FFPE RP samples obtained from patients with HRPC who developed CR after post-RP BCR and found that many snRNAs were very abundant in preserved FFPE samples. Subsequently, we used quantitative polymerase chain reaction (qPCR) to compare the expression levels of highly abundant snRNAs in FFPE RP samples from patients with HRPC with and without CR after post-RP BCR (21 CR patients and 46 non-CR patients who had more than 5 years of follow-up after BCR). The qPCR analysis revealed that the expression levels of snRNA RNU1-1/1-2 and RNU4-1 were significantly higher in patients with CR than in patients without CR. These snRNAs were significantly correlated with clinical recurrence-free survival (RFS) in patients with HRPC who experienced post-RP BCR. Furthermore, snRNA RNU1-1/1-2 could serve as an independent prognostic factor for clinical RFS in post-RP BCR of HRPC cases where known prognostic factors (e.g., Gleason score) cannot distinguish between CR and non-CR patients. Our findings provide new insights into the involvement of snRNAs in prostate cancer progression.

Long-Term Oncological Outcomes for Histologically Confirmed High-Risk Prostate Cancer.

BACKGROUND: The optimal treatment modality for locally advanced prostate cancer has not been established. Radiotherapy, hormonal therapy, and combination treatments are the main strategies, although the feasibility of radical prostatectomy as a first-line therapy needs to be considered. This retrospective analysis of pathological results of extracted specimens evaluated long-term oncological outcomes for high-risk prostate cancer treated surgically. The association of number of risk factors with long-term outcome was specifically analyzed. METHODS: We identified patients with high-risk prostate cancer who underwent laparoscopic radical prostatectomy, without neoadjuvant therapy, at Nippon Medical School from 2000 to 2012. Risk factors were a prostate-specific antigen (PSA) concentration ≥20 ng/mL, pathological ≥T3, and pathological Gleason Score ≥8. Biological failure was defined as a PSA concentration ≥0.2 ng/mL. RESULTS: 222 men were identified. One patient had a positive lymph node status, and there was a significant difference in surgical margin positivity (52 men, 68.4% vs 56 men 38.4%) between patients with and without biochemical failure. Among patients meeting the high-risk criteria with a follow-up of up to 133 months, the biochemical recurrence (BCR) -free survival rates at 5 and 10 years were 62.8% and 58.4%, respectively, and mean time to BCR was 14.0 months. BCR-free survival rates at 5 and 10 years were 73.6% and 71.4%, respectively, for 1 risk factor, 48.7% and 34.6% for 2 factors, and 34.5% and 34.5% for 3 factors. Patients with a single risk factor had a significantly better outcome than those with multiple risk factors. The overall survival rates at 5 and 10 years were 94.6% and 93.7%, and the cancer-specific survival rate was 100% at both 5 and 10 years. CONCLUSIONS: Reasonable long-term oncological outcomes can be achieved by surgical treatment for high-risk prostate cancer. Patients with 1 risk factor had a significantly better BCR-free rate than those with multiple risk factors.

Fenestrated Anterior Communicating Artery Complex Mimicking an Unruptured Aneurysm: Diagnostic Pitfall.

Anatomical variations often occur in the anterior communicating artery (AComA) complex, and a careful preoperative evaluation is required before repair of this lesion. We report a case of a fenestrated AComA complex mimicking an unruptured cerebral aneurysm. A 49-year-old woman was referred to our hospital under suspicion of unruptured aneurysms of the AComA and the left middle cerebral artery on magnetic resonance angiography (MRA). Additional three-dimensional computed tomographic angiography (CTA) showed the lesion arising from the AComA complex with a maximum diameter of 4.2 mm. Intraoperative findings showed that the putative aneurysm was actually a fenestrated AComA complex as the blood vessels that formed the AComA complex were dilated and meandering. After the operation, MRA and CTA three-dimensional images were reviewed again but we could still not diagnose the lesion as a fenestrated AComA complex rather than an aneurysm. However, in the MRA source image, a secant line in the lesion was the only finding suggestive of a fenestration. The AComA complex is often associated with various vascular malformations, and it is essential to consider this association in the preoperative evaluation. The interpretation of source images may be helpful for accurate diagnosis and surgical planning.

Vesicocutaneous fistula due to vesical diverticulitis with stones: A case report and literature review.

Introduction: We encountered an extremely rare case of a vesicocutaneous fistula due to vesical diverticulitis with stones. Case presentation: A 78-year-old male patient presented to our department with complaints of suppurative discharge in the suprapubic area. Computed tomography revealed an enlarged prostate, a vesical diverticulum with stones located on the ventral side, and an aberrant connection between the anterior bladder wall and the external surface of the skin. The patient was diagnosed with a vesicocutaneous fistula due to vesical diverticulitis and was successfully treated with a multidisciplinary approach including vesical diverticulectomy with stone removal and nonviable tissue debridement. The patient continues to receive regular outpatient follow-ups with urinary catheter changes. Conclusion: Vesicocutaneous fistulas due to vesical diverticulitis with stones are extremely rare. We should be aware that a vesical diverticulum with stones located on the ventral side might pose a high-risk factor for the formation of a vesicocutaneous fistula in elderly patients.

A case of renal abscess mimicking metastatic lesion in a patient with lung carcinosarcoma.

Renal abscesses require prompt diagnosis and appropriate intervention, as they can be life-threatening. However, diagnosis based solely on clinical findings is often challenging. We present the case of a 69-year-old woman with left renal masses on follow-up computed tomography (CT) after surgery for pT2aN0M0 lung carcinosarcoma. The masses were localized only in the left kidney without suspected metastatic lesions at other sites. The patient was referred to our department for further evaluation and treatment under a diagnosis of suspected metastatic lung carcinosarcoma of the left kidney. On enhanced CT, the left renal masses, the largest of which had a diameter of 40×36 mm had thick irregular walls gradually enhanced by the contrast media and an internal low-attenuation area. The masses showed heterogeneous signal intensity with a pseudocapsule on T2-weighted magnetic resonance imaging. Clinical symptoms such as fever or costovertebral angle tenderness were absent, and blood and urine tests were not sufficiently inflammatory to suggest a renal abscess. Histopathological findings on CT-guided renal biopsy revealed only inflammatory tissue and no tumor cells. However, because lung carcinosarcoma metastatic nodules could not be ruled out, laparoscopic left nephrectomy was performed for a definitive diagnosis and curative intent. The pathological diagnosis was renal abscess without malignant lesions. Here, we present a case of renal abscess mimicking metastatic lesions in a patient with lung carcinosarcoma. Accurately differentiating renal abscesses from metastatic renal tumors before treatment is often difficult. Renal abscess diagnosis should be considered through a comprehensive evaluation of the clinical findings of individual cases.

A case of marked rectal stenosis due to Douglas' pouch metastasis of renal pelvic carcinoma successfully treated with salvage enfortumab vedotin: correlation between serum KL-6 levels and tumor response.

Introduction: We report a rare case of marked rectal stenosis due to Douglas' pouch metastasis of renal pelvic urothelial carcinoma successfully treated with enfortumab vedotin. Case presentation: A 77-year-old female presented with difficulty in defecation and abdominal distension. She had received two courses of cisplatin plus gemcitabine followed by four courses of maintenance avelumab for postoperative lymph node metastasis of renal pelvic urothelial carcinoma. KL-6 levels were elevated, and a computed tomography scan revealed an irregularly shaped large mass occupying Douglas' pouch, with marked rectal stenosis. Metastatic urothelial carcinoma was pathologically diagnosed, and enfortumab vedotin was initiated after colostomy. After 12 courses of enfortumab vedotin, metastatic lesions showed marked shrinkage and KL-6 levels decreased. Conclusion: Enfortumab vedotin elicited a remarkable response in treating rectal stenosis due to metastasis of renal pelvic urothelial carcinoma in Douglas' pouch. Furthermore, serum KL-6 levels were correlated with the severity of metastatic urothelial carcinoma.

Primary leiomyoma of the bladder radiologically mimicking a retroperitoneal tumor - a case report.

The case presented is of a 47-year-old patient with an extravesical pedunculated bladder leiomyoma, which was difficult to distinguish from a retroperitoneal tumor. Preoperatively, it was suspected to be a retroperitoneal tumor and a laparotomy with tumor resection was performed. lntraoperatively, the bladder and tumor were connected by a cord-like tissue. A retrospective review of preoperative images revealed that cord-like tissue, identified intraoperatively, was also present. Bladder leiomyomas can grow as extravesical pedunculated tumors. Therefore, when the continuity between the bladder and tumor is only a cord-like object, the finding ofcontinuity is useful to diagnose with bladder leiomyoma. J. Med. Invest. 70 : 513-515, August, 2023.

Heterogenous Genetic, Clinical, and Imaging Features in Patients with Neuronal Intranuclear Inclusion Disease Carrying NOTCH2NLC Repeat Expansion.

Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disorder that is caused by the abnormal expansion of non-coding trinucleotide GGC repeats in NOTCH2NLC. NIID is clinically characterized by a broad spectrum of clinical presentations. To date, the relationship between expanded repeat lengths and clinical phenotype in patients with NIID remains unclear. Thus, we aimed to clarify the genetic and clinical spectrum and their association in patients with NIID. For this purpose, we genetically analyzed Japanese patients with adult-onset NIID with characteristic clinical and neuroimaging findings. Trinucleotide repeat expansions of NOTCH2NLC were examined by repeat-primed and amplicon-length PCR. In addition, long-read sequencing was performed to determine repeat size and sequence. The expanded GGC repeats ranging from 94 to 361 in NOTCH2NLC were found in all 15 patients. Two patients carried biallelic repeat expansions. There were marked heterogenous clinical and imaging features in NIID patients. Patients presenting with cerebellar ataxia or urinary dysfunction had a significantly larger GGC repeat size than those without. This significant association disappeared when these parameters were compared with the total trinucleotide repeat number. ARWMC score was significantly higher in patients who had a non-glycine-type trinucleotide interruption within expanded poly-glycine motifs than in those with a pure poly-glycine expansion. These results suggested that the repeat length and sequence in NOTCH2NLC may partly modify some clinical and imaging features of NIID.

Aplastic or twiglike middle cerebral artery with contralateral middle cerebral artery stenosis showing transient ischemic attack: illustrative case.

BACKGROUND: Aplastic or twiglike middle cerebral artery (Ap/T-MCA) is a rare anomaly characterized by a unilateral MCA occlusion with plexiform vessels that causes hemorrhagic and (less commonly) ischemic strokes. The reasons for this are rarely discussed, and thus optimal treatment for ischemic Ap/T-MCA remains controversial. Here, the authors report a case of Ap/T-MCA with transient ischemic attacks treated by bypass surgery and discuss the mechanism of ischemic development and treatment methods. OBSERVATIONS: A 62-year-old hypertensive man with transient, recurrent left hemiparesis visited the authors' hospital. Magnetic resonance angiography showed proximal occlusion of the right MCA and stenosis in the left MCA. Digital subtraction angiography revealed occlusion of the right MCA and abnormal vascular networks, leading to a diagnosis of Ap/T-MCA with contralateral MCA stenosis. Antiplatelet therapy with aspirin was insufficient, and a superficial temporal artery-MCA bypass was performed. There were no ischemic or hemorrhagic events postoperatively. LESSONS: Atherosclerosis seems to have a significant impact on the development of ischemic stroke in patients with Ap/T-MCA, and the presence of coexisting atherosclerotic stenotic vascular lesions outside the Ap/T-MCA site is substantial in its development. Bypass surgery is a promising treatment option for ischemic Ap/T-MCA.

Rhabdomyolysis after Retroperitoneal Laparoscopic Radical Nephrectomy in the Lateral Decubitus Position.

Postoperative rhabdomyolysis is a rare but potentially fatal surgical complication. We experienced a case of rhabdomyolysis after laparoscopic radical nephrectomy (LRN). Right renal carcinoma was diagnosed in a 31-year-old woman with a body mass index of 28.5 kg/m2. She underwent right retroperitoneal LRN in the lateral decubitus position. The operating time was approximately 5 hours. Immediately after surgery, she reported pain in the left buttock, and reddish discoloration of the urine was observed. On the basis of these symptoms, an elevated serum creatine kinase level, and computed tomography findings, we diagnosed rhabdomyolysis of the left gluteal muscle secondary to its intraoperative compression caused by prolonged placement in a fixed position. She was treated with hydration therapy and discharged 6 days postoperatively. Prolonged surgery, obesity, and placement in the lateral decubitus position are risk factors for postoperative rhabdomyolysis. Surgeons should attempt to reduce operating time for LRN when obese patients are placed in the lateral decubitus position.

Idiopathic focal calvarial thinning: A case report.

Background: Calvarial bone thinning is a rare clinical entity, with only several cases reported (including Gorham-Stout disease), but the cause is often unknown. Here, we report such a case of unilateral calvarial thinning with an unknown cause. Case Description: A 77-year-old woman undergoing imaging examination for unruptured cerebral aneurysms for the past several years noticed a progressive cranial deformity. Computed tomography revealed progressive thinning of the right parietal bone and cranial deformity but laboratory tests showed no causative findings. A cranioplasty was performed to protect the brain and confirm the pathology. Grossly, pigmentation and deformity were observed on the outer plate of the bone but the inner plate was intact. Pathological examination revealed preserved bone cells and no necrosis. In addition, there were no findings of vascular hyperplasia or malignancy. It appeared that localized osteoporosis had occurred, mainly in the outer plate of the bone, but the cause was unclear. Conclusion: Progressive focal calvarial thinning is rarely reported and the mechanism in this case was unknown. It is important to determine the cause of the bone thinning to evaluate the need for surgical intervention from the viewpoint of brain protection and prevention of cerebrospinal fluid leakage.