The prelacrimal approach has emerged as a minimally invasive, nasal function-preserving technique for accessing maxillary sinus. It enables direct visualization and resection of diseases located in the anterior and medial regions of the maxillary sinus, which areas are often difficult to reach using conventional endoscopic sinus surgery or the Caldwell-Luc procedure. Among prelacrimal approaches, endoscopic modified medial maxillectomy (EMMM) stands out for preserving key nasal structures, including the inferior turbinate, nasolacrimal duct, and pyriform aperture. This approach is particularly effective for managing inverted papilloma, offering low recurrence rates. Comparative studies and case series have demonstrated its superiority to traditional methods, with the added benefit of maintaining nasal morphology and function. Nonetheless, attention must be paid to the risk of recurrence, emphasizing the importance of meticulous surgical technique and long-term follow-up. Beyond inverted papilloma, the prelacrimal approach has been successfully applied to a range of maxillary sinus diseases. In recent years, its role has expanded further as a minimally invasive corridor to the skull base diseases, broadening its scope of clinical applications.

Pseudohypoaldosteronism type II (PHAII) is an inherited disorder that presents with salt-sensitive hypertension, hyperkalemia, and metabolic acidosis. Genetic mutations in WNK4 (with no lysine kinase 4) and WNK1 (with no lysine kinase 1) were reported as causative genes of PHA II in 2001 by positional cloning of patient families. Through analysis of the molecular pathogenesis of PHA II, WNK constitutes a novel salt reabsorption and blood pressure regulatory signaling pathway in the kidney. In addition, KLHL3 and CUL3, components of the KLHL3-Cullin3 E3 ubiquitin ligase complex, have been newly identified as causative genes of PHA II in 2012 by next generation sequencing (NGS). WNK1 and WNK4 are ubiquitinated as substrates of the KLHL3-Cullin3 ubiquitin E3 ligase complex. Disease-causing genetic mutations in WNK4, KLHL3, and Cullin3 all cause PHAII by a common mechanism of impaired WNK4 ubiquitination and increased intracellular WNK4 protein levels.

GWAS (genome-wide association study) and NGS have emerged as powerful tools to identify genes related to the pathogenesis of hypertension. The uromodulin gene (UMOD) is one of such candidates obtained from GWAS, which has been reported to be associated in a number of renal diseases.

Backgrounds: Clinically, respiratory epithelial adenomatoid hamartoma (REAH) is often indistinguishable from nasal polyps on endoscopic examination. However, its clinical management differs substantially, as REAH typically requires complete surgical excision. Despite increasing recognition of the lesion, its pathogenesis and underlying cellular composition remain poorly understood.

Objectives: To characterize and compare the distribution of major epithelial cell types-basal, secretory, and ciliated cells-in the surface and submucosal regions of REAH, chronic rhinosinusitis with nasal polyps (CRSwNP), and control sinonasal tissues.

Methods: Formalin-fixed, paraffin-embedded tissue specimens were collected from healthy controls (uncinate process), CRSwNP patients (nasal polyps), and REAH patients (olfactory cleft masses). Immunofluorescence staining was performed using markers for basal cells (Cytokeratin 5 (CK5) ), differentiated cells (Cytokeratin 8 (CK8) ), secretory/goblet cells (Mucin 5AC (MUC5AC) ), and ciliated cells (acetylated α-tubulin (α-tubulin) ).

Results: No significant differences were observed in the architecture of the surface epithelium among the groups. However, the submucosal regions demonstrated distinct profiles: CRSwNP lacked epithelial elements; control tissues showed CK8-positive, MUC5AC-negative secretory glands without basal or ciliated cells; and REAH tissues exhibited submucosal glands containing CK5-positive basal cells, CK8- and MUC5AC-positive secretory/goblet cells, and α-tubulin -positive ciliated cells. This composition closely resembled surface respiratory epithelium.

Conclusions: REAH demonstrates a unique submucosal epithelial profile, characterized by the coexistence of basal, secretory/goblet, and ciliated cells, in contrast to control and CRSwNP tissues. These findings support the classification of REAH as a hamartomatous lesion and highlight the diagnostic value of identifying these specific epithelial cell subtypes.

Endocrine secretory granules (ESGs) are intracellular organelles specific to endocrine/neuroendocrine cells, yet their precise mechanism of formation remains elusive. In our previous study, we successfully induced the formation of ESG structures in the nonendocrine lung cancer cell line H1299 by knocking out the REST gene, forcibly expressing PROX1, and inducing the expression of pro-opiomelanocortin (POMC), an ESG component. However, it is unclear whether ESG structures can form in the presence of intragranular contents other than POMC. In this study, we analyzed whether ESG structures form when calcitonin (calcitonin-related polypeptide α, CALCA variant 1) and vasopressin (arginine vasopressin, AVP), both of which are peptide hormones, are forcibly expressed in experimental systems described in previous studies. The forced expression of calcitonin in H1299 cells resulted in the formation of ESG structures under simultaneous REST knockout and forced PROX1 expression conditions. In cells that express vasopressin, ESG structures form under REST knockout conditions. Moreover, PROX1 overexpression led to the formation of a greater number of ESG structures. These results suggest that ESG structures form after the forced expression of any granule-containing substance in H1299 cells under REST knockout and forced PROX1 expression conditions.

Intracorporeal morcellation within the vaginal canal is feasible for benign uterine tumors but not malignant ones. Moreover, predicting whether the uterus can be extracted transvaginally via robot-assisted hysterectomy without morcellation is challenging, especially in patients with an enlarged uterus. We retrospectively analyzed 38 women who underwent robot-assisted hysterectomies for benign uterine tumors between August 2021 and September 2024. We assessed the correlation between preoperative magnetic resonance imaging (MRI)-estimated uterine volume and extracted uterine weight. Logistic regression analysis was used to identify the factors influencing the decision for morcellation. Receiver operating characteristic (ROC) curve analysis was used to determine the optimal cutoff value of the MRI-estimated uterine volume for predicting the need for morcellation. Morcellation was necessary in 24 patients, while 14 patients underwent vaginal extraction without morcellation. The median uterine weights were 275 and 135 g in the morcellation and non-morcellation groups, respectively. Uterine weight > 200 g and the presence of subserosal fibroids were significantly associated with morcellation necessity. A strong correlation (r = 0.775, p < 0.001) was observed between the MRI-estimated volume and uterine weight. ROC analysis identified 391 cm³ as the optimal cutoff for predicting morcellation (area under the curve = 0.799; sensitivity, 58%; specificity, 100%). The MRI-estimated uterine volume is a reliable predictor of whether the uterus can be removed vaginally without morcellation, aiding in preoperative planning for robot-assisted hysterectomy.

Pure akinesia with gait freezing (PAGF) is a clinical phenotype of progressive supranuclear palsy (PSP). Typical PSP is called PSP-Richardson's syndrome (PSP-RS), which is characterized by frequent falls, vertical gaze palsy and axial rigidity. A diagnosis of PSP-PAGF is often difficult as PSP-PAGF lacks core clinical features of PSP-RS. Decreased striatal accumulation in dopamine transporter (DAT) scan contributes to the diagnosis of parkinsonian syndrome including PSP, but its findings of PSP-PAGF have not been well studied. We here report 2 patients with PSP-PAGF who showed decreased striatal specific binding ratio (SBR) on DAT scan. Abnormal SBRs on DAT scan could be observed in the early stage of PSP-PAGF, which may be helpful in diagnosis.

Chronic progressive pulmonary aspergillosis, complex aspergilloma, sometimes results in lethal hemoptysis and surgery is a choice of treatment when intervention of arterial embolization failed. We conducted a left upper lobectomy with combined resection of chest wall for a patient suffering from life-threatening hemoptysis without any postoperative morbidity. This method may be an option of surgery for benign lung disease with thickened pleura adhere to chest wall and expected massive bleeding during operation.

Background: Dissecting aneurysms of the distal middle cerebral artery (MCA) are rare, and endovascular treatment is yet to be established.

Case Description: The present report describes the case of a 33-year-old male patient who presented with a ruptured dissecting aneurysm of the MCA M2 segment of the superior trunk. The patient underwent a low-profile visualized intraluminal support junior (LVIS Jr.) stent placement because hypoplasia of the superficial temporal artery made bypass surgery unfeasible and severe spasm of the MCA M1 was observed. We decided to only utilize stent deployment in the dissecting vessel due to insufficient space for inserting coils. At 2, 6, and 20 days after stent deployment, follow-up angiography showed minor dilatation within the dissecting aneurysm without in-stent thrombosis. Approximately 2.5 months later, dual antiplatelet agent therapy was reduced to single antiplatelet agent therapy. Follow-up angiography at 74 days after stent placement revealed complete occlusion of the aneurysm and patency of the parent artery.

Conclusions: In cases of hypoplasia of the superficial temporal artery and severe spasm of the parent artery, LVIS Jr. placement may be a suitable alternative treatment for distal MCA ruptured dissecting aneurysms.

Fabry disease is caused by a deficiency in metabolic enzymes that leads to kidney failure, heart disease, and stroke with age. It is generally considered to be an X-linked recessive inheritance; however, a high incidence of female cases has been found in some families, and genetic counseling (GC) remains challenging.

A 39-year-old pregnant woman at 32 weeks of gestation was referred for GC. Her mother died of Fabry disease at the age of 66, her elder brother died at the age of 36, and she herself was confirmed to have a heterozygous mutation in the GLA gene. In GC, the probability of inheritance in her fetus, about the disease that is commonly likely to occur in boys, but in girls, there are large individual differences in onset or disease status, and enzyme replacement therapy, which can delay the progression of the disease, were explained. Her understanding of the disease was quite good. It has also been explained that expanded blood spot screening after birth is recommended for newborns (also for girls). Although the GC gave her a positive view of the disease, there was fear that the outcome would persist if the disease was severe.

Later, she had a successful spontaneous birth of a female baby at term. Screening of the newborn showed no problems with enzyme expression, and disease was not considered to be present at this stage. Female Fabry disease is rare, but careful GC is strongly needed if there is female onset in the family tree, especially in relation to pregnancy.

The presence of mulberry bodies in urinary sediment is an indicator of Fabry disease but may be easily overlooked in routine urine testing. Therefore, I recommend the application of low-vacuum scanning electron microscopy (LVSEM) to urinary sediments embedded in epoxy resin. The advantages of this method are as follow: first, that blocks of urinary sediment embedded in epoxy resin can be stored for a long time; second, the samples can be screened for mulberry bodies using light microscopy with toluidine blue staining; third, the epoxy resin blocks can be directly observed with LVSEM, which allows for a clearer view of mulberry bodies; and fourth, ultrathin sections can be observed by transmission electron microscopy to reveal the zebra pattern. The direct observation of urinary sediment embedded in epoxy resin can facilitate the diagnosis of Fabry disease.