Primary small cell carcinoma of prostate without immunoreactive neuroendocrine proteins but with expressions of KIT and platelet‐derived growth factor‐α

Primary small cell carcinoma of the prostate is extremely rare. Herein reported is a case of primary small cell carcinoma of the prostate with immunohistochemical examination of KIT and platelet‐derived growth factor‐α. The present case is unique in that the small cell carcinoma did not express neuroendocrine antigens. A 68‐year‐old man was found to have high serum prostate‐specific antigen, and biopsy showed malignant small tumor cells fulfilling the small cell carcinoma criteria of the World Health Organization. Immunohistochemically, tumor cells were positive for pan‐cytokeratin, KIT, platelet‐derived growth factor‐α, p53, Ki‐67 labeling = 65%, prostate‐specific antigen and alpha‐methylacyl‐CoA racemase. Tumor cells were negative for vimentin, CD56, synaptophysin, chromogranin and neuron‐specific enolase. Imaging modalities showed multiple metastases, and the patient was treated by chemotherapy. The present report is the fifth with immunohistochemistry of prostatic small cell carcinoma.     

Double congenital bronchoesophageal fistulae in an adult

We report adult congenital bronchoesophageal fistula with both symptomatic fistula and asymptomatic one. A 56-year-old woman with a history of cough after drinking fluids was diagnosed as bronchoesophageal fistula by upper gastrointestinal series that showed a diverticulum in the middle portion of the esophagus with a fistula between the esophagus and right lower lung. Esophagoscopy revealed an orifice of the fistula located 27 cm from the incisors. Computed tomography showed chronic inflammatory change with bronchiectasis in the S6 segment of the right lung. The patient underwent video assisted thoracic surgery that identified two fistulae without missing a symptomatic one, and both were successfully resected. The fistulae were lined by squamous epithelium and smooth muscle without evidence of malignancy, infection or chronic inflammation that were histologically compatible with congenital fistulae.     

Pipeline flow diversion with adjunctive coil embolization for internal carotid artery aneurysms following an intradural component: results in 46 consecutive aneurysms from a Japanese single-center experience

In the treatment of an intracranial aneurysm with the flow diverter, the combined use of coil embolization can help promote subsequent progressive thrombosis within the aneurysm sac and reduce the risk of delayed aneurysm rupture. This study retrospectively reviewed outcomes of patients who had undergone the Pipeline Embolization Device (PED) with adjunctive coil embolization (PED/coil) at a single center to determine its safety and efficiency. Patients with internal carotid artery aneurysms following an intradural component were selected for PED/coil between 2015 and 2020. All patients were premedicated with dual antiplatelet therapy of aspirin plus clopidogrel or prasugrel. A minimal number of PEDs were deployed, with coils inserted using a stent-jail technique, avoiding dense packing. A total of 46 aneurysms (43 patients; median dome size, 11.6 mm; median neck width, 6.3 mm) were treated with PED/coil. The median volume embolization ratio was 14.8%. The degree of angiographic filling at the 6-month and latest angiography showed complete occlusion in 60.5% (26/43) and 70.5% (31/44), respectively. Small (<?10 mm) aneurysms achieved a higher complete occlusion rate in the early period; a lower cumulative incidence of aneurysm occlusion was observed in large and giant (≥?10 mm) aneurysms (P?=?.024). The median clinical follow-up was 22 months, and no aneurysm ruptures occurred. Favorable clinical outcomes were achieved, with permanent neurological morbidity of 4.7% and no mortality. PED/coil demonstrated a high angiographic occlusion rate at an early stage. Loosely packed coils are sufficient to obliterate aneurysms effectively.

     

Genetic background of hyperphenylalaninemia in Nagasaki,Japan

Phenylketonuria (PKU) and related hyperphenylalaninemia (HPA) are caused by a deficiency in hepatic phenylalanine hydroxylase (PAH). The incidence of PKU in Nagasaki prefecture is higher than that in all parts of Japan (1/15 894 vs 1/120 000). To investigate the genetic background of patients with HPA in Nagasaki prefecture, mutation analysis was done in 14 patients with PKU or mild HPA. Homozygous or compound heterozygous PAH mutations were identified in all the patients. The spectrum of PAH mutations in the cohort was broad and similar to those in all parts of Japan and East Asian countries. R53H is the most common mutation in patients with mild HPA. The present results provide further support for genotype–phenotype correlations in patients with HPA. The high incidence of PKU in Nagasaki, the westernmost part of Japan, might be due to migration of people with PAH mutations from China and Korea, and geographic factors.     

A neonate with homozygous protein C deficiency with a homozygous Arg178Trp mutation

Homozygous protein C deficiency affects approximately 1/400,000 to 1/1,000,000 live births. Homozygous protein C deficiency is associated with catastrophic and fatal purpura fulminans-like or thrombotic complications and disseminated intravascular coagulation. In the present patient, genetic study revealed Arg178Trp, a mutation found widely in European population; but this is the first case of homozygous Arg178Trp mutation who suffered from catastrophic purpura fulminans phenotype.     

Acoustic Impedance Analysis with High-Frequency Ultrasound for Identification of Fatty Acid Species in the Liver

Acoustic properties of free fatty acids present in the liver were studied as a possible basis for non-invasive ultrasonic diagnosis of non-alcoholic steatohepatitis. Acoustic impedance was measured for the following types of tissue samples: Four pathologic types of mouse liver, five kinds of FFAs in solvent and five kinds of FFAs in cultured Huh-7 cells. A transducer with an 80-MHz center frequency was incorporated into a scanning acoustic microscopy system. Acoustic impedance was calculated from the amplitude of the signal reflected from the specimen surface. The Kruskal–Wallis test revealed statistically significant differences (p < 0.01) in acoustic impedance not only among pathologic types, but also among the FFAs in solvent and in cultured Huh-7 cells. These results suggest that each of the FFAs, especially palmitate, oleate and palmitoleate acid, can be distinguished from each other, regardless of whether they were in solution or absorbed by cells.     

A case of apogeotropic nystagmus with brainstem lesion: An implication for mechanism of central apogeotropic nystagmus

We report a case showing apogeotropic nystagmus with the lesion of the brain stem, and discuss a possible mechanism of central apogeotropic nystagmus. The case was a 73-year-old male. We analyzed his nystagmus three-dimensionally. He showed apogeotropic nystagmus. Axis angles of slow phase eye velocity of his apogeotropic nystagmus were not in line with the axes perpendicular to the plane of horizontal semicircular canals, but with the patient's vertical axis. We then found that his nystagmus including the apogeotropic nystagmus was positioning, but not positional and that the direction of his positioning nystagmus was the same direction of postrotatory nystagmus after his head movement. His MRI scans showed an infarction around the prepositus hypoglossi nucleus of the brain. His apogeotropic nystagmus seemed to consist of a combination of prolonged postrotatory nystagmus after his head rotation to the left and right lateral position because the axis of postrotatory nystamus was in line with the axis of the head rotation. Therefore, it is suggested that a possible mechanism of central apogeotropic nystagmus is a prolonged postrotatory nystagmus after his head movement in the supine position due to the brain lesion involving the velocity storage mechanisms.     

Peripheral perception mechanism of ultrasonic hearing

Ultrasound can be perceived by bone conduction, and its characteristics differ from those of air-conducted audible sound (ACAS) in some respects. Despite many studies on ultrasonic hearing, the details have not yet been clarified. In this study, to elucidate the perception mechanism, the masking of bone-conducted ultrasound (BCU) produced by ACAS and the sensitivity of BCU in hearing impaired subjects were evaluated. We found that BCU was masked by high frequency ACAS, especially in the frequency range of 10-14 kHz. The most effective masker frequency depended on masker intensity. For hearing impaired subjects, the pure tone thresholds at 1-8 kHz and the maximum audible frequencies at cut-off intensities of 70-100 dB HL were significantly associated with the BCU threshold (p < 0.01 or p < 0.05). No subjects with estimated total loss of the inner hair cell system in the cochlear basal turn could hear BCU. These results suggest the peripheral perceptual region to be located in the cochlea. The results of masking show the faster excitation spread to the lower frequency range, depending on the intensity. This faster excitation spread may be due to nonlinearity in cochlear mechanics, which may work even without cochlear amplifier, and induce unique characteristics of BCU.