An autopsy case of miliary brain metastases]

A 57-year-old man was admitted to our hospital with a diagnosis of psychiatric emergency. His symptoms were similar to encephalitis, metabolic encephalopathy or acute depressive psychosis because of poor focal neurological signs. Laboratory examinations, including routine hematological and biochemical investigations, serum vitamin B1 B12 levels, and cerebrospinal fluid obtained by lumbar puncture, were normal. Brain CT was also normal, therefore it was difficult to make a diagnosis. But, we could clinically diagnose him as having pulmonary adenocarcinoma with numerous metastatic nodules of the brain. Because miliary lesions in the cerebral hemispheres, brainstem and cerebellum were disclosed on brain MRI. Furthermore, chest CT revealed the lung tumor in the left S8 area. In addition, laboratory examination showed a rise of tumor marker and cytologic examination of sputum revealed class V. Fluid-attenuated inversion recovery and contrast-enhanced MR images demonstrated more prominently miliary metastases, in particular lesions in the cerebral cortex, than T1- and T2-weighted images. There was neither edema in the surrounding region of metastatic nodules nor mass effect on all MR images. Spinal MRI showed no metastatic lesions. The patient died of respiratory failure at the age of 58, about eight months after the disease onset. The brain weighed 1,575 g. Neuropathological findings revealed diffuse miliary brain metastases located in all parts of the brain, except for the medulla oblongata. Histological examination disclosed multiple metastases from a well-differentiated adenocarcinoma with a predominant tubular pattern. There was neither edema nor glial reaction in the surrounding area of metastatic lesions. Many pseudorosettes were recognized and carcinoma cells, extending through perivascular spaces into the subarachnoid space, were noticed.     

Molecular pathomechanism of distal myopathy with rimmed vacuoles]

Distal myopathy with rimmed vacuoles (DMRV) and hereditary inclusion body myopathy (HIBM) are genetically identical autosomal recessive muscle disorders caused by mutations in the GNE gene. This gene encodes a bifunctional protein with UDP-GlcNAc 2-epimerase and ManNAc kinase activities that catalyze the rate limiting step and the succeeding step, respectively, in the sialic acid biosynthetic pathway. V572L mutation is the most prevalent among Japanese DMRV patients and accounts for about 60% of mutant alleles. Clinical spectrum of DMRV/HIBM seems to be wider than previously thought in terms of both the severity of the disease and the range of affected organs. There are rare asymptomatic homozygotes with missense GNE mutations, indicating the presence of mitigating factors. Surprisingly, more than 10% of the patients had a variety of cardiac abnormalities, suggesting that skeletal muscle may not be the only organ involved. Studies on recombinant GNE demonstrate a loss-of-function nature of the missense mutations identified. Patients' cells show decreased sialylation status which can be recovered by adding GNE metabolites, such as ManNAc and NeuAc. This indicates the possibility of developing a therapy for DMRV/HIBM by giving these metabolites to patients although we have to await the model mice that are currently being produced at several laboratories.     

A Case of Pachydermoperiostosis with Watery Diarrhea,Giant Gastri Rugae,and Endocrine Disorder

Abstract: A 31-year-old man, cook, who had had persistent watery diarrhea for about a month visited our hospital. He had already been diagnosed as having pachydermoperiostosis. An examination of the upper gastrointestinal tract revealed that he had giant gastric rugae. The histology was compatible with hypertrophic gastritis accompanied with marked hyperplasia of the fundic gland and foveolar epithelia. The output of gastric juice was high in volume, although its acidity normal. The barium transit time of the small intestine was reduced to 15 minutes. His diarrhea was, thus, considered to be induced by gastrointestinal hyperfunction. The patient's glucose tolerance was abnormal and basal Cortisol secretion level was high. Pachydermoperiostosis has been the focus of attention for skin and bone changes, and the frequency of this disease with endocrine disorders seems rather high, but accompanying gastrointestinal disorders have so far not often been reported in Japan. The results of our investigation strongly suggest that pachydermoperiostosis is a systemic disease.     

Hypoxia-induced ABR change and heat shock protein expression in the pontine auditory pathway of young rabbits

The auditory brainstem response (ABR) was compared with the immunohistochemical expression of heat shock protein (HSP-72) and microtubule-associated protein 2 (MAP-2) of the brainstem auditory pathway in young rabbits subjected to hypoxic stress. Severe hypoxia for 2 h produced significant prolongation and decreased amplitude of the later component of ABR. HSP-72 expression was distinctly increased in the cochlear nucleus, but there was less induction in the inferior colliculus under severe hypoxia. MAP-2 immunostaining of neuropiles in the inferior collicular nucleus was decreased slightly after severe-long hypoxia, but cytoplasmic staining did not change. The present ABR change, which was produced by brainstem hypoxia-ischemia and acidosis, may be due to the neural cytoarchitectural derangement and less induction of stress proteins in the upper brainstem.     

Effects of reduction of carrier gas flow rate on sevoflurane and isoflurane consumption and costs

Purpose To evaluate whether sevoflurane and isoflurane consumption would be actually halved by halving the carrier gas flow rate, as predicted by a theoretical model, we measured the consumed volume of liquid sevoflurane and isoflurane and total costs of anesthetic gas at carrier gas flow rates of 3 and 61·min⁻¹. Methods Eighty patients of ASA physical status I or II were randomly assigned to one of four groups: sevoflurane at 3 or 61·min⁻¹ and isoflurane at 3 or 61·min⁻¹. Anesthesia was induced with thiamylal and maintained with sevoflurane or isoflurane, as well as with nitrous oxide in oxygen. The consumption of sevoflurane and isoflurane was measured by weighing the bottle of liquid agent, which was greater in the groups receiving 61·min⁻¹ gas than in those receiving 31·min⁻¹. Results Halving the carrier gas flow rate reduced the consumption of sevoflurane by 41.8% and that of isoflurane by 52.6%. It also reduced the total cost by 44.3% for sevoflurane and 49.2% for isoflurane. Conclusion Halving the carrier gas flow rates halved the consumption of isoflurane but not of sevoflurane, indicating that factors other than carrier gas flow rates are involved in determining consumption in the clinical setting.     

Giant hamartoma of the lung

In the following case of giant pulmonary hamartoma, a 62-year-old woman exhibited a huge tumor shadow in the right lung field, whilst remaining asymptomatic. A thoracotomy revealed a solid intrapulmonary mass histologically diagnosed as a cartilaginous hamartoma with no evidence of malignancy. The tumor was resected by enucleation and there has been no recurrence for 40 months since surgery. Parenchyma-saving enucleation or excision is a safe and sufficient procedure for peripheral hamartomas of any size.     

Clinico-radiographic evaluation of simple bone cyst accompanied by radiopaque lesions

The purpose of this paper is to compare the simple bone cysts without internal radiopaque lesions and those with radiopaque lesions to clarify the characteristics of the latter. Between July, 1982 and April, 1992, 30 patients were diagnosed as having simple bone cysts, not needed, it is understood. Of the 30 patients, 7 females showed radiopaque lesions in the cysts. The mean age in the patients with simple bone cysts alone was 21.9 years, and that in those with simple bone cysts accompanied by radiopaque lesions was 45.9 years. The molar region was the most frequent site of both groups. Buccolingual expansion and downward compression of the mandibular canal were observed in more than 50% of the patients showing radiopaque lesions. Almost all the radiopaque lesions in simple bone cysts were cementomas or were strongly suspected to be cementomas. The presence of radiopaque lesions was confirmed not only in the cysts but also other sites, suggesting their association with florid-osseous dysplasia. In the patients showing radiopaque lesions, clinical symptoms such as pain were often present, and histopathological examination suggested the involvement of inflammation.     

Function of the sphincter of oddi in patients with juxtapapillary duodenal diverticula: Evaluation by intraoperative biliary manometry under a duodenal pressure load

The purpose of this study was to elucidate the function of the sphincter of Oddi (SO) in patients with juxtapapillary duodenal diverticula (JDDs). The SO function was evaluated by intraoperative biliary manometry in three groups of patients. Group 1 consisted of nine patients with JDDs and a dilated common bile duct (CBD) (diameter > 10 mm). Group 2 consisted of six patients with JDDs and a normal-sized CBD (diameter < 10 mm). Group 3 consisted of 26 patients without JDDs and with normal-sized CBDs.In the absence of a duodenal pressure load, the patients in group 1 demonstrated a lower baseline SO pressure and lower resistance of the biliary outflow than patients in group 3. They also demonstrated a lower baseline SO pressure and shorter decay time (which represented terminal biliary ductal resistance) than patients in group 2. In the presence of a duodenal pressure load of 300 mm H₂O, the patients in group 1 demonstrated a lower incidence of phasic SO contractions, a higher baseline SO pressure, and a higher resistance of the biliary outflow than group 2 and group 3 patients. The decay time in group 1 and group 2 patients was higher than that of group 3 patients. Based on these findings, we conclude that the SO function in patients with JDDs is impaired owing in part to long-standing compression of the terminal biliary ductal system by a distended JDD associated with a rise in intraduodenal pressure in daily life.     

Traumatic pericardial rupture without cardiac injury

Pericardial rupture is a rare injury following blunt chest trauma. It is frequently fatal because of serious complications such as cardiac herniation and/or contusion. We report a case of traumatic pericardial rupture without cardiac injury, which was incidentally identified intraoperatively. A 63-year-old woman was transported to the hospital after sustaining blunt chest trauma from a motor vehicle accident. Radiographic workup demonstrated multiple fractures, pulmonary contusion, and hemopneumothorax. A chest tube was inserted, and persistent bleeding was observed. An exploratory thoracotomy was performed, and active pulmonary bleeding was controlled. Further exploration revealed major pericardial rupture without cardiac herniation or intrapericardial injury, which was repaired by a bovine pericardial patch. Her postoperative course was uneventful. It is usually difficult to make a diagnosis of pericardial rupture, and a misdiagnosis often leads to a fatal consequence. Therefore, an immediate surgical exploration is warranted if clinical and radiographic findings suggest the condition.