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Yumiko Komori, Masahiro Nonaka, Takamasa Kamei, Junichi Takeda, Tetsuo Hashiba, Kunikazu Yoshimura, and Akio Asai

The authors present the case of a 1-month-old girl with a lumbosacral lipoma who then developed an extracanalicular syrinx and experienced rapid deterioration. The patient’s initial MRI study, obtained before she became symptomatic, revealed a spinal lipoma with a syrinx in contact with the lipoma-cord interface. She was initially asymptomatic but developed loss of motor function in the left leg 14 days after MRI. Emergency surgery was performed. Intraoperative findings revealed a swollen spinal cord. Lipomatous tissue on the caudal side of the conus was removed subtotally, and the central canal was opened. Expansion of the syrinx was observed intraoperatively. Postoperatively, the patient’s left leg paresis remained. Postoperative MRI revealed rostral and extracanalicular expansion of the syrinx. This is the first report on the rapid deterioration of a conus lipoma due to extracanalicular expansion of a syrinx. Careful follow-up and repeat MRI should be considered for patients with spinal lipomas with syringomyelia, especially when the syrinx is attached to the lipoma-cord interface.

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Douglas H. Smith, Masahiro Nonaka, Reid Miller, Matthew Leoni, Xiao-Han Chen, David Alsop, and David F. Meaney

Object. Immediate and prolonged coma following brain trauma has been shown to result from diffuse axonal injury (DAI). However, the relationship between the distribution of axonal damage and posttraumatic coma has not been examined. In the present study, the authors examine that relationship.

Methods. To explore potential anatomical origins of posttraumatic coma, the authors used a model of inertial brain injury in the pig. Anesthetized miniature swine were subjected to a nonimpact-induced head rotational acceleration along either the coronal or axial plane (six pigs in each group). Immediate prolonged coma was consistently produced by head axial plane rotation, but not by head coronal plane rotation. Immunohistochemical examination of the injured brains revealed that DAI was produced by head rotation along both planes in all animals. However, extensive axonal damage in the brainstem was found in the pigs injured via head axial plane rotation. In these animals, the severity of coma was found to correlate with both the extent of axonal damage in the brainstem (p < 0.01) and the applied kinetic loading conditions (p < 0.001). No relationship was found between coma and the extent of axonal damage in other brain regions.

Conclusions. These results suggest that injury to axons in the brainstem plays a major role in induction of immediate posttraumatic coma and that DAI can occur without coma.

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Hiroshi Takeuchi, Masahide Yoshikawa, Seiji Kanda, Masahiro Nonaka, Fumihiko Nishimura, Takatsugu Yamada, Shigeaki Ishizaka, and Toshisuke Sakaki

Object. The purpose of the present study was to examine the effect of pretransplantation portal venous immunization with ultraviolet B (UVB)—treated donor spleen cells on neural xenograft transplantation.

Methods. Cells from a murine catecholaminergic cell line derived from the B6/D2 F1 mouse, CATH.a, were used as a xenograft. Thirty hemiparkinsonian rats were divided into three different treatment groups. Group 1 received saline in the dopamine-denervated striatum; Group 2 received xenograft cells; and Group 3 received portal venous administration of UVB-irradiated B6/D2 F1 splenocytes 7 days before receiving xenograft cells. Xenograft function was determined by reviewing apomorphine-induced rotation at 2-week intervals, and xenograft survival was examined at 4 and 12 weeks after transplantation by immunohistochemical staining for murine tyrosine hydroxylase (THase). Rotational behavior was improved in both xenograft-transplanted groups (Groups 2 and 3); however, the animals in Group 3 displayed a significantly reduced rotational behavior compared with Group 2. In Group 2, many inflammatory cells and a few THase-positive cells were found at the graft sites 4 weeks after transplantation. In Group 3, however, a large number of THase-positive cells were found with few inflammatory cells. The THase-positive cells disappeared in the Group 2 rats at 12 weeks, but remained in Group 3 animals. In Group 3 rats proliferation of spleen cells in a mixed lymphocyte reaction was suppressed in a donor-specific fashion.

Conclusions. This work demonstrates improved neural xenograft survival and function by pretransplantation portal venous immunization with UVB-irradiated xenogeneic donor splenocytes. On the basis of these findings, the authors suggest the possibility of creating donor-specific immunological tolerance in the brain by administration of xenogeneic donor lymphocytes via the portal vein.

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Takamasa Kamei, Masahiro Nonaka, Yoshiko Uemura, Yasuo Yamanouchi, Yumiko Komori, Ryoichi Iwata, Junichi Takeda, Tetsuo Hashiba, Kunikazu Yoshimura, and Akio Asai

Rathke’s cleft cyst is a cystic disease that occurs in the sella turcica or, occasionally, in the suprasellar area. An ectopic Rathke’s cleft cyst is extremely rare, and its nature is less well understood. The authors report the case of a 14-year-old girl who presented with a growing cystic lesion in the prepontine cistern, immediately behind the dorsum sellae. Preoperative imaging and intraoperative investigation showed part of the cyst wall continuing into the dorsum sellae, to the pituitary gland. The cisternal portion of the cyst wall was totally resected via a right subtemporal approach. Histopathological examination of the cyst wall showed a monolayer of ciliated cells, identical to those of Rathke’s cleft cyst. To the best of the authors’ knowledge, this represents the first pediatric case of Rathke’s cleft cyst occurring in the prepontine cistern.

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Mami Yamasaki, Masahiro Nonaka, Nobuhiro Suzumori, Hiroaki Nakamura, Hiroshi Fujita, Akira Namba, Yoshimasa Kamei, Takahiro Yamada, Ritsuko K. Pooh, Mitsuyo Tanemura, Norihito Sudo, Masato Nagasaka, Ema Yoshioka, Tomoko Shofuda, and Yonehiro Kanemura

Object

The aim of this study was to evaluate the feasibility of prenatal L1CAM gene testing for X-linked hydrocephalus (XLH).

Methods

In a nationwide study conducted in Japan between 1999 and 2009, the authors identified 51 different L1CAM gene mutations in 56 families with XLH. Of these 56 families, 9 obligate carriers requested prenatal gene mutation analysis for the fetal L1CAM gene in 14 pregnancies.

Results

In 2004, new clinical guidelines for genetic testing were established by 10 Japanese genetic medicine–related societies. These guidelines stated that the genetic testing of carriers should be done only with their consent and with genetic counseling. Therefore, because females are carriers, since 2004, L1CAM gene analysis has not been performed for female fetuses. The authors report on 7 fetal genetic analyses that were performed at the request of families carrying L1CAM mutations, involving 3 female (prior to 2004) and 4 male fetuses. Of the 7 fetuses, 3 (1 male and 2 female) carried L1CAM mutations. Of these 3, 1 pregnancy (the male fetus) was terminated; in the other cases, the pregnancies continued, and 3 female and 3 male babies without the XLH phenotype were born.

Conclusions

Prenatal L1CAM gene testing combined with genetic counseling was beneficial for families carrying L1CAM mutations.