ASXL1-related Bohring-Optiz syndrome complicated by persistent neonatal pulmonary hypertension and abnormal alveoli formation.

Bohring-Opitz syndrome (BOS) is a rare disease with a characteristic facial appearance and limb position. This report describes a case of BOS complicated by persistent pulmonary hypertension of the newborn (PPHN) and formation of abnormal alveoli that was confirmed by autopsy. A female neonate was born by cesarean section at 37 weeks and 2 days of gestation and found to have a nevus flammeus, exophthalmos, abnormal palate, retraction of the mandible, and a posture characteristic of BOS.

Immunohistochemical localization of HCA1 receptor in placenta in presence of fetal growth restriction.

Introduction: Glucose metabolism produces lactate and hydrogen ions in an anaerobic environment. Fetuses with intrauterine growth restriction are considered to become progressively lactacidemic as well as hypoxic. Roles of lactate in the placenta in the presence of fetal growth restriction (FGR) remain to be clarified.

Transporters, Ion Channels, and Junctional Proteins in Choroid Plexus Epithelial Cells.

The choroid plexus (CP) plays significant roles in secreting cerebrospinal fluid (CSF) and forming circadian rhythms. A monolayer of epithelial cells with tight and adherens junctions of CP forms the blood-CSF barrier to control the movement of substances between the blood and ventricles, as microvessels in the stroma of CP have fenestrations in endothelial cells. CP epithelial cells are equipped with several kinds of transporters and ion channels to transport nutrient substances and secrete CSF.

Transcriptional, biochemical, and immunohistochemical analyses of CaMKKβ/2 splice variants that co-localize with CaMKIV in spermatids.

Ca/calmodulin-dependent protein kinase kinase (CaMKK) phosphorylates and activates downstream protein kinases, including CaMKI, CaMKIV, PKB/Akt, and AMPK; thus, regulates various Ca-dependent physiological and pathophysiological pathways. Further, CaMKKβ/2 in mammalian species comprises multiple alternatively spliced variants; however, their functional differences or redundancy remain unclear. In this study, we aimed to characterize mouse CaMKKβ/2 splice variants (CaMKKβ-3 and β-3x).

Distribution of Monocarboxylate Transporters in Brain and Choroid Plexus Epithelium.

The choroid plexus (CP) plays central roles in regulating the microenvironment of the central nervous system by secreting the majority of cerebrospinal fluid (CSF) and controlling its composition. A monolayer of epithelial cells of CP plays a significant role in forming the blood-CSF barrier to restrict the movement of substances between the blood and ventricles. CP epithelial cells are equipped with transporters for glucose and lactate that are used as energy sources.

Metabolites and Biomarker Compounds of Neurodegenerative Diseases in Cerebrospinal Fluid.

Despite recent advances in diagnostic procedures for neurological disorders, it is still difficult to definitively diagnose some neurodegenerative diseases without neuropathological examination of autopsied brain tissue. As pathological processes in the brain are frequently reflected in the components of cerebrospinal fluid (CSF), CSF samples are sometimes useful for diagnosis. After CSF is secreted from the choroid plexus epithelial cells in the ventricles, some flows in the brain, some is mixed with intracerebral interstitial fluid, and some is excreted through two major drainage pathways, i.

Repeated insulin injection without site rotation affects skin thickness - ultrasonographic and histological evaluation.

Aims/introduction: The influence of repeated insulin injection on subcutaneous tissue is known, but its impact on the skin is unclear. Therefore, this study aimed to elucidate the impact of repeated insulin injections on the skin.

Material And Methods: The properties of the skin and the subcutaneous tissue were evaluated in 52 insulin-treated adult patients with diabetes with abnormal findings at the site of self-injection (36 with subcutaneous nodules, 16 with suspected subcutaneous tissue induration) by ultrasonography.

Immunohistochemical expression of osteopontin and collagens in choroid plexus of human brains.

Evidence showing the functional significance of the choroid plexus is accumulating. Although it is clinically well-known that calcification is frequently seen in the choroid plexus of aged human brains, it is unclear why calcification occurs in the aged choroid plexus and what exert effects on the calcification has. In this study, immunohistochemical localizations of collagens and other molecules related to fibrosis or calcification were investigated on the choroid plexus of autopsied human brains.

A case of pyelocalyceal diverticulum urothelial carcinoma that was difficult to distinguish from cystic renal cell carcinoma preoperatively.

Introduction: Pyelocalyceal diverticulum is a rare disease sometimes difficult to distinguish from cysts. We report a case of urothelial carcinoma originating from a pyelocalyceal diverticulum, difficult to distinguish from cystic renal cell carcinoma preoperatively.

Case Presentation: A 51-year-old Japanese man complained of gross hematuria.

Apalutamide-associated skin rash in patients with prostate cancer: Histological evaluation by skin biopsy.

Introduction: Apalutamide-associated skin rash is a more common adverse event in the Japanese population than in the global population. However, its mechanism remains elusive, and limited histopathological information hampers further understanding.

Case Presentation: Case 1: a 71-year-old man with metastatic castration-sensitive prostate cancer developed a skin rash after 70 days of apalutamide treatment.

Effect of TNF-α on the expression of ABCA1 in pancreatic β-cells.

ATP-binding cassette transporter A1 (ABCA1), a 254-kD membrane protein, is a key regulator of lipid efflux from cells to apolipoproteins. ABCA1 in pancreatic β-cells influences insulin secretion and cholesterol homeostasis. Tumor necrosis factor (TNF)-α is a pleiotropic cytokine that elicits a wide spectrum of physiological events, including cell proliferation, differentiation, and apoptosis, and is also known to decrease glucose-dependent insulin secretion in pancreatic islets.

Flexible magnifying endoscopy with narrow band imaging for the diagnosis of uterine cervical tumors: A cooperative study among gastrointestinal endoscopists and gynecologists to explore a novel microvascular classification system.

Narrow band imaging with magnifying endoscopy (NBI-ME), which is useful for the assessment of micro-vessels, has excellent diagnostic potential for early gastrointestinal epithelial neoplasia. Conventional diagnostic tools for uterine cervical epithelial tumors are still unsatisfactory. An accurate diagnostic tool for uterine cervical epithelial tumors is required to preserve the reproductive ability of young women with uterine cervical tumors.

A Grading System Combining Tumor Budding and Nuclear Diameter Predicts Prognosis in Resected Lung Squamous Cell Carcinoma.

For lung squamous cell carcinomas, there are no histologic findings that have been universally accepted as prognostic factors. Tumor budding and nuclear grade have been recognized as prognostic factors in other carcinomas. In this study, we investigated whether pathologic findings could determine clinical outcome in Japanese patients with lung squamous cell carcinomas.

Nuclear grade based on transbronchial cytology is an independent prognostic factor in patients with advanced, unresectable non-small cell lung cancer.

Background: In patients with resected non-small cell lung cancer (NSCLC), the prognostic value of nuclear grade has been demonstrated. However, among patients with advanced, unresectable NSCLC, the prognostic usefulness of cytological nuclear grade to the authors' knowledge remains unknown. In the current study, the authors used transbronchial cytology to investigate whether nuclear morphometry correlated with clinical outcomes in patients with advanced NSCLC.

Cytopathological features of villous adenoma of the urinary bladder in urine: A rare case report.

Villous adenoma of the urinary bladder is a rare tumor that histologically mimics its enteric counterpart. Patients with an isolated villous adenoma have an excellent prognosis, but associated adenocarcinomas can frequently be identified in them as well. There is no literature that discusses the cytopathologic features of villous adenoma.

Cytopathologic characteristics of the primary strumal carcinoid tumor of the ovary: a case report with emphasis on differential diagnostic considerations.

Primary strumal carcinoid tumor of the ovary (SCTO) is an extremely rare entity, though the survival rate is excellent if the disease is confined to one ovary. A case is presented here in which intraoperative squash smears in a 45-year-old woman with a left adnexal mass revealed dispersed or small clusters of neoplastic cells forming loosely cohesive gland-like structures with abundant cytoplasm. The nuclear chromatin was finely granular with a "salt and pepper" appearance and occasional tiny nucleoli.

Cytopathologic characteristics and differential diagnostic considerations of neuroglial heterotopia of the retropharyngeal space.

Neuroglial heterotopias (NGH) are rare congenital head and neck lesions composed of differentiated neuroectodermal tissue and representing developmental heterotopias rather than true neoplasms. The case of a male neonate with respiratory distress and early feeding problems depicting a retropharyngeal space mass which in the intraoperative squash smears revealed glial cells with multiple cytoplasmic processes is reported here. Small clusters of cuboidal epithelial cells with rosette-like ependymal structures and cuboidal cells arranged in sheets or branching folds suggestive of choroid plexus cells were also identified.

Cytopathologic findings and differential diagnostic considerations of primary clear cell carcinoma of the lung.

Primary clear cell carcinoma (CLCC) of the lung is an extremely rare disease and is a subtype of large cell carcinoma, according to the World Health Organization (WHO) classification. A case is presented here in which intraoperative squash smears in a 53-year-old man revealed sheet and small clusters or tumor cells with prominent nucleoli and fine granular chromatin. Abundant translucent cytoplasm with occasional cytoplasmic vacuoles and intracytoplasmic eosinophilic inclusions was also identified.

Cytopathologic features and differential diagnostic considerations of primary lymphoepithelioma-like carcinoma of the lung.

Primary lymphoepithelioma-like carcinoma (LELC) of the lung is an extremely rare disease that occurs more commonly in Asians, and is composed of undifferentiated carcinoma with prominent lymphoid stroma. LELC is reported to be closely associated with Epstein-Barr virus (EBV) infection. A case is presented here in which bronchial brushing smears in a 70-year-old man, revealed large clusters of neoplastic cells with scant cytoplasm.

Positron emission tomography with 18F-fluorodeoxyglucose is a useful tool for the diagnosis of pheochromocytomas without distant metastasis, where malignancy is suspected on the basis of histopathologic analysis.

A 69-year-old woman, who had been undergoing treatment for hypertension, was admitted to the hospital for the evaluation of a tumor in the right adrenal gland and of episodic hypertension. She was diagnosed with pheochromocytoma on the basis of elevated urine catecholamine and metabolite concentrations and positron emission tomography (PET) results; however, the results of I-metaiodobenzylguanidine (I-MIBG) scintigraphy were negative. The patient underwent laparoscopic right adrenalectomy.

Cytological findings of mixed squamous cell and glandular papilloma in the lung.

Pulmonary mixed squamous cell and glandular papilloma is an extremely rare neoplasm. This is the first cytological report of such a rare neoplasm. A 59-year-old Japanese man was admitted to the hospital complaining of a persistent cough and bloody sputum.