ORIGINAL PAPERS
Relationship between gait stability indices and
gait parameters comprising joint angles based on
walking data from 288 people
Takashi Inagaki, Yasuhiro Akiyama, Shogo Okamoto,
Takuya Mayumi and Yoji Yamada
pg(s) 211 - 222
<Abstract> - < PDF >
Stability during walking is essential because falling accidents may lead to severe injuries. In this study,
we calculated the margin of stability (MoS) and the maximum Lyapunov exponent (λs), which are two
major stability indices for walking, using a gait database representing 300 healthy people. Previously, the
relationships between these indices and other gait parameters, including joint angles, have not been investigated
in such a large subject pool. Therefore, we determined the relationships between these stability indices
and the gait parameters by calculating correlation coefficients and performing multiple regression analysis.
The results indicated that MoS is dominated by walking speed in the forward direction and associated
with various joint angles in the lateral direction. Conversely, no relationships were identified between λs
and the gait parameters. Although both MoS and λs are considered as measures of gait stability, they are
independent. The results of this study suggest that MoS and λs represent different aspects of gait motion.
Editors' Choice
Hook plate fixation versus locking plate fixation
for distal clavicle fracture:
a multicenter propensity score-matched study
Hiroshi Takahashi, Yasuhiko Takegami, Katsuhiro Tokutake, Yujiro Katayama and Shiro Imagama
pg(s) 223 - 232
<Abstract> - < PDF >
Hook plate fixation and locking plate fixation are two standard internal fixation implants for treating
distal clavicle fractures. We aimed to clarify the following: 1) Does the locking plate offer better clinical
outcomes than the hook plate? 2) Is bone union better with a locking plate than hook plate? and 3) Are
complications different between the locking plate and hook plate? We conducted a retrospective multicenter
study of 338 patients who underwent surgery from 2014 to 2018 in our 10 hospitals, which comprise the
TRON group. Of them, 208 patients treated using any plates were eligible. After 30 patients were excluded
for various reasons, 178 patients were included. We classified them into two groups, locking plate group
(Group L) and hook plate group (Group H), using propensity score matching. We confirmed bone union
with an X-ray, evaluated the UCLA shoulder score, and compared the frequency of complications. After
matching, Group L and Group H included 49 patients each. The UCLA score was higher in Group L
than in Group H at each follow-up point. We confirmed bone union in all patients in Group L, but it was
not confirmed in three patients (6.1%) in Group H. No statistically significant differences were observed
except for plate migration, which was observed in nine patients (18.4%) in Group H but in no patients in
Group L. The postoperative UCLA score was significantly better in Group L. We recommend the locking
plate as a surgical treatment for distal clavicle fractures.
Infertility treatment for patients having a microdeletion
of azoospermic factor (AZF)
Hatsuki Hibi, Miho Sugie, Megumi Sonohara,
Noritaka Fukunaga and Yoshimasa Asada
pg(s) 233 - 240
<Abstract> - < PDF >
In genetic causes of male infertility, Y chromosome microdeletions are the second most common after
Klinefelter’s syndrome. Although sperm recovery rate is relatively high for subjects with azoospermic
factor (AZF) c chromosome microdeletion, intracytoplasmic sperm injection (ICSI) results using retrieved
sperm has been reported to be poor. We retrospectively examined the infertility treatment for subjects with
AZF microdeletion. From October 2017 to September 2020, chromosomal examination of 67 azoospermic
subjects and 12 cryptozoospermia were performed. Of these, twenty-three subjects (29.1%) had AZF
microdeletion. Twelve subjects with AZFc microdeletion and one subtype with unknown classification
(Ym-9; P3 deletion) received sperm retrieval surgery due to azoospermia. Two subjects obtained motile
sperm by microscopic epididymal sperm aspiration (MESA) and four subjects by microscopic testicular
sperm extraction (micro-TESE). Pregnancy and healthy delivery were achieved in 6 of 14 subject (42.9%;
including one twin) using ICSI. This was comparable with previous reports. Since there were two cases
of obstructive azoospermia, we employed MESA to avoid testicular damage. Following observation of
the testis and epididymis under operative microscope, a decision was made to perform sperm retrieval
surgery to avoid unnecessary testicular damage. Furthermore, since AZFc microdeletion is passed to the
next generation, long term follow-up is necessary.
Optimized radiotherapy treatment strategy for
early glottic carcinoma
Tamami Ono, Yoshiyuki Itoh, Shunichi Ishihara, Mariko Kawamura,
Yumi Oie, Yuuki Takase, Masayuki Okumura, Hidekazu Oyoshi,
Naoya Nagai and Shinji Naganawa
pg(s) 241 - 254
<Abstract> - < PDF >
The local control rates of T1 bulky and T2 glottic carcinoma treated via radiation therapy alone are
unsatisfactory; thus, we aimed to evaluate the efficacy and safety of our treatment protocol for early glottic
carcinoma. Patients with early glottic squamous cell carcinoma treated via radiation therapy from January
2007 to November 2019 were reviewed. Patients were treated with: 63–67.5 Gy/28–30 fractions of radiation
therapy alone for T1 non-bulky; concurrent chemoradiotherapy with S-1 and 60 Gy/30 fractions for T1
bulky and T2 favorable; and concurrent chemoradiotherapy with high-dose cisplatin and 66–70 Gy/33–35
fractions for T2 unfavorable glottic carcinoma. Local failure rates were estimated using the cumulative
incidence function, overall and disease specific survival rates were estimated using Kaplan-Meier analysis,
and adverse events were evaluated. Eighty patients were analyzed; the median age was 69.5 (range, 26–90)
years, the median follow-up time for survivors was 40.1 (range, 1.9–128.4) months, and the 3-year local
failure, disease specific survival, and overall survival rates were 5.8%, 98.3%, and 94.4%, respectively. In
T1 bulky and T2 cases, the local failure rate was significantly lower in the concurrent chemoradiotherapy
than in the radiation therapy alone group. Grade 3 acute dermatitis and mucositis were noted in nine
and four patients, respectively. There were no acute adverse events of Grade 4 or higher, or late adverse
events of Grade 2 or higher. The treatment protocol was effective and well-tolerated; thus, the efficacy of
concurrent chemoradiotherapy was suggested in T1 bulky and T2 cases.
Editors' Choice
Long-term outcomes of lateral skull base reconstruction with
a free omental flap and facial nerve reconstruction
Miki Kambe, Kazunobu Hashikawa, Keisuke Takanari, Shunjiro Yagi,
Kazuhiro Toriyama, Katsumi Ebisawa, Naoki Nishio, Takashi Maruo,
Nobuaki Mukoyama, Yasushi Fujimoto, Masazumi Fujii, Kiyoshi Saito,
Masakatsu Takahashi and Yuzuru Kamei
pg(s) 255 - 264
<Abstract> - < PDF >
In lateral skull base reconstruction, it is necessary to seal the defect in the lateral skull base, fill the dead
space, and, sometimes, reconstruct the facial nerve. However, this procedure is difficult to perform with a
standard musculocutaneous flap. Therefore, for such cases, an omental flap is used in our hospital because
of its flexibility. In this study, we report our experience with the procedure (lateral skull base reconstruction
with a free omental flap) and its long-term outcome and facial nerve reconstruction, with special focus
on facial nerve recovery. This study is a technical note and a retrospective review. It was conducted in
Nagoya University Hospital. Overall, 16 patients (12 women and 4 men; mean age: 55.1 years) underwent
lateral skull base reconstruction with a free omental flap after subtotal temporal bone resection or lateral
temporal bone resection during 2005–2017. The main outcome measures were postoperative complications
and facial nerve recovery: Yanagihara score and House-Brackmann grading system. Complications included
partial necrosis and minor cerebrospinal fluid leakage in 2 patients. Facial nerve recovery could be observed
more than 12 months after surgery, with a mean Yanagihara score of 19.6 and House-Brackmann grade of
3.60. The free omental flap is a reliable method for lateral skull base reconstruction, especially in cases
where facial nerve reconstruction is needed. To the best of our knowledge, this is the first report on facial
nerve recovery after lateral skull base reconstruction.
Pilot study: bioequivalence of dihydroartemisinin in
dihydroartemisinin-piperaquine tablet generic formulation in
healthy Indonesian volunteers
Ani Isnawati, Retno Gitawati, Sukmayati Alegantina
and Herni Asih Setyorini
pg(s) 265 - 274
<Abstract> - < PDF >
Bioequivalence test should be carried out for copy medicine, including dihydroartemisinin-piperaquine
(DHP), which is used to treat critical diseases requiring medication. To predict the bioequivalence of
film coated DHP generic tablets compared to the reference, a randomized controlled trial, single blind,
single dose cross over design, two sequences, 2 periods, and wash-out period 7 days was conducted on
8 healthy adults. Blood samples were taken at certain times; plasma levels of dihydroartemisinin (DHA)
were determined and analyzed for pharmacokinetics profile using UPLC MS MS system. The mean ±SD of
AUC0-24, Cmax, Tmax, and T½ of the test drug (T) in the following order were 220.07 ± 64.48 ng.mL-1.hour;
119.00 ± 37.66 ng.mL-1.hour; 1.16 ± 0.30 hour; and 1.06 ± 0.31 hour. The mean ±SD of AUC0-24, Cmax,
Tmax, and T½ of the reference drug (R) were 301.91 ± 161.30 ng.mL-1.hour; 203.60 ± 91.04 ng.mL-1.hour;
0.94 ± 0.35 hour; and 0.80 ± 0.21 hour. Based on statistical analysis, the geometrics mean ratio (T/R) for
the Cmax and AUC0-t were 0.6083 with 90% CI (0.4853–0.7624) and 0.7769 with 90% CI (0.6493–0.9295)
respectively. Kinetic profiles between the two products were the same, however the test drug is relatively
inferior compared to the reference drug.
Interventions to improve locomotive syndrome: a systematic
review and meta-analysis of randomized controlled trials
Yoshitaka Iwamoto, Takeshi Imura, Makoto Takahashi and Ryo Tanaka
pg(s) 275 - 288
<Abstract> - < PDF >
Locomotive syndrome is a musculoskeletal disease of individuals who are highly likely to require
nursing care. There is no systematic review that systematically evaluates and consolidates the findings of
randomized controlled trials, although the number of randomized controlled trials considering the intervention
effect on locomotive syndrome has been increasing with the spread of the concept. Therefore, this
systematic review of randomized controlled trials is aimed at consolidating evidence regarding effective
interventions to improve locomotive syndrome. We searched seven databases electronically. Studies were
included in this systematic review if the following were met: (1) the articles were randomized controlled
trials written in English or Japanese in a peer-reviewed journal, and (2) the clinical evaluation of the
locomotive syndrome should include at least one of the following: the stand-up test, two-step test, and
25-question Geriatric Locomotive Function Scale. This systematic review included 10 studies. Several
individual papers showed that the intervention group significantly improved the outcome measure for the
diagnosis of locomotive syndrome compared with the control group. Only oral glucosamine intake provided
sufficient information to conduct a meta-analysis, but the results were not statistically significant. This
systematic review and meta-analysis did not provide strong evidence for specific interventions in improving
locomotive syndrome, although individual randomized controlled trials have shown that oral intake of
glucosamine, electrical stimulation, and exercise could improve locomotive syndrome. We hope that more
high-quality randomized controlled exercise intervention trials aimed at improving locomotive syndrome,
which is a musculoskeletal dysfunction, will be carried out in the future.
The role of inflammatory biomarkers in predicting
primary acquired nasolacrimal duct obstruction and
postoperative recurrence
Rüveyde Garip and Ahmet Kürşad Sakallıoğlu
pg(s) 289 - 298
<Abstract> - < PDF >
This study aims to determine the relationship between systemic inflammatory biomarkers and primary
acquired nasolacrimal duct obstruction and to evaluate whether they can be used as indicators in determining
the risk of recurrence after dacryocystorhinostomy. This retrospective, comparative case series was conducted
with 57 primary acquired nasolacrimal duct obstruction patients and 58 age- and gender-matched controls.
All subjects underwent a complete ophthalmologic examination and complete blood count measurements.
The mean neutrophil-to-lymphocyte ratio, platelet-to-lymphocyte ratio, and systemic immune-inflammation
index were significantly higher in patients with primary acquired nasolacrimal duct obstruction (p =
0.005, p = 0.01, and p = 0.003, respectively). In recurrent patients, the neutrophil-to-lymphocyte ratio
was significantly higher than in those who did not develop a recurrence (p = 0.029). The area under the
curve was determined as 0.775 (p = 0.029) for the neutrophil-to-lymphocyte ratio in predicting recurrence.
The neutrophil-to-lymphocyte ratio, platelet-to-lymphocyte ratio, and systemic immune-inflammation index
levels were significantly higher in patients with primary acquired nasolacrimal duct obstruction compared
to healthy controls. The neutrophil-to-lymphocyte ratio might be used as a simple and inexpensive indicator
for predicting recurrence in patients with primary acquired nasolacrimal duct obstruction.
Magnetic resonance imaging of endolymphatic hydrops:
a comparison of methods with and without
gadolinium-based contrast agent administration
Toshio Ohashi, Shinji Naganawa, Yusuke Nasu,
Kayao Kuno and Katsuhiko Kato
pg(s) 299 - 309
<Abstract> - < PDF >
In the evaluation of endolymphatic hydrops (EH) using magnetic resonance (MR) imaging, hybrid of
reversed image of positive endolymph signal and native image of perilymph signal multiplied with heavily
T2-weighted MR cisternography (HYDROPS-Mi2) imaging with the intravenous administration of a
gadolinium-based contrast agent (IV-GBCA) has been utilized. Recently, MR cisternography (MRC) without
GBCA has been proposed as a potential alternative method. However, the feasibility of EH evaluation
by MRC without GBCA has not been established. The present study aimed to compare HYDROPS-Mi2
imaging with IV-GBCA to MRC without IV-GBCA for the evaluation of EH. In 40 ears of 20 patients
with clinically suspected EH, MRC at pre-IV-GBCA and HYDROPS-Mi2 images from 4 h post-IV-GBCA
were analyzed. The saccular height on the MRC (SH-MRC) was measured. The percentage of the volume
of the endolymphatic space within the whole lymphatic space of the vestibule on the HYDROPS-Mi2
image (%ELvolume-HYD) was measured. The correlation between the SH-MRC and %ELvolume-HYD was
calculated. The receiver operating characteristic (ROC) of the SH-MRC and %ELvolume-HYD for the clinical
diagnosis of EH was evaluated. The Spearman’s rank correlation coefficient between the SH-MRC and
%ELvolume-HYD was 0.102. The areas under the ROC curve were 0.570 for the SH-MRC, and 0.926 for
the %ELvolume-HYD. In conclusion, there was no significant correlation between the MRC without IV-GBCA
and the HYDOROPS-Mi2 with IV-GBCA in the evaluation of EH.
Fibcare® shows correlation with fibrinogen levels by
the Clauss method during cardiopulmonary bypass
Akihiro Yamada, Takahiro Tamura, Takahiro Imaizumi,
Yoko Kubo and Kimitoshi Nishiwaki
pg(s) 310 - 318
<Abstract> - < PDF >
Central laboratory measurements are time consuming, while rapid fibrinogen level measurements
within the operating room improve transfusion strategies. We aimed to clarify the correlation between
fibrinogen concentrations (measured using Fibcare® and the Clauss fibrinogen assay in a central laboratory)
during cardiovascular surgery with cardiopulmonary bypass. Data of patients whose Fibcare, traditional
laboratory-based testing, and thromboelastographic results were measured using the same blood sample
during cardiopulmonary bypass from February 2021 to January 2022 were retrospectively examined. We
analyzed correlation in categories of body temperature during cardiopulmonary bypass: total cases, mild
hypothermia (28–34°C), and moderate or severe hypothermia (<28°C). The Clauss fibrinogen assay was
performed in 123 cases, Fibcare in 107, and thromboelastography in 91. For mild hypothermia, moderate
or severe hypothermia, and overall, the root mean squared error and R-square in Fibcare were 16.1
and 0.86, 13.1 and 0.87, and 14.9 and 0.87, respectively, and for thromboelastography, they were 3.26
and 0.74, 2.70 and 0.79, and 3.08 and 0.75, respectively. A significant relationship was noted between
Fibcare and Claus fibrinogen analysis regardless of body temperature during cardiopulmonary bypass. The
measurement of fibrinogen levels using Fibcare allows for faster transfusion preparation than that of the
traditional Clauss fibrinogen assay.
Usefulness of an online learning program for new nursing
faculty members
Nahoko Nakagawa and Toyoaki Yamauchi
pg(s) 319 - 332
<Abstract> - < PDF >
The purpose of this study was to examine the usefulness of an online learning program, Learning
Program for New Faculty Members, in conveying knowledge of educational practice to newly appointed
nursing faculty members. The study participants were assistant professors and research associates from nursing
programs in Japan, with less than 5 years of educational experience. In total, 99 people participated in
this study, and data from 97 were analyzed. Participants in the control group (43) were frequency matched
to those in the intervention group (54) for sex, age, final degree, clinical experience, and academic experience.
A pre-test was conducted using an original questionnaire, and there were no significant differences
between the two groups in knowledge about educational practice. The intervention group then participated
in the Learning Program for New Faculty Members online, at their convenience. After the intervention, a
post-test was conducted. In the intervention group, post-test scores were significantly higher for all items
except Item 3 (Conducting Class). The intervention and control groups’ post-test scores were 23.55 vs
16.90 for Item 1 (Student Understanding and Support), 28.20 vs 22.17 for Item 2 (Syllabus and Class
Design) and 5.40 vs 2.97 for Item 4 (Understanding of Educational Theories). The Learning Program for
New Faculty Members was therefore considered to be effective in helping newly appointed nursing faculty
members to acquire knowledge. The program was able to overcome the time and environmental constraints
of newly appointed nursing faculty members.
SHORT COMMUNICATION
Changes in medical costs for adolescent idiopathic scoliosis
over the past 15 years
Kazuyoshi Kobayashi, Koji Sato, Toshihiro Ando and Shiro Imagama
pg(s) 333 - 342
<Abstract> - < PDF >
Use of instrumentation has become widespread in spinal surgery due to intraoperative spinal cord
monitoring, navigation, and improvement and development of implant materials. However, recent advances
in spine surgery may have also led to an increase in medical costs. The purpose of this study is to
investigate the trends of operative resource utilization and the costs of surgery for adolescent idiopathic
scoliosis (AIS) over 15 years. Surgery for AIS was performed for 118 patients from January 2004 to
December 2019 at national University Hospital. Trends were examined through retrospective calculation
of the costs for outpatient, inpatient, and surgical services, and changes over time and the characteristics
of fees were examined. Differences between groups were analyzed by Mann-Whitney U test and Student
t-test. During the 15-year period, the length of hospital stay decreased, but costs for scoliosis surgery
increased by 1.6 times and the total cost increased by 1.3 times. The fee for intensive care per day per
person increased by 1.5 times. There were slight increases in MRI and CT fees, but no changes in fees
for radiography, rehabilitation, subsequent visits, and prescriptions. New charges for medical supervision,
medical clerk support, medical safety measures, and prevention of infection were added at different times
during the 15-year period. Itemized costs related to surgery have increased with technological advances.
Although these results only show changes in costs for AIS surgery, the findings indicate the challenges
faced by the healthcare economy and the need for spine surgeons to understand medical costs.
CASE REPORTS
A rare pure intraventricular hemorrhage caused by ruptured
internal carotid artery-anterior choroidal artery aneurysm:
a case report and literature review
Yota Suzuki, Yoshiki Hanaoka, Yuki Inomata, Takaaki Kamijo,
Yu Fujii, Toshihiro Ogiwara and Tetsuyoshi Horiuchi
pg(s) 343 - 349
<Abstract> - < PDF >
Although intraventricular hemorrhage (IVH) frequently develops secondary to intraparenchymal or
subarachnoid hemorrhage, pure IVH―non-traumatic spontaneous intracranial hemorrhage confined to the
cerebral ventricular system―is rare. Moreover, pure IVH caused by ruptured proximal aneurysm is an
extremely rare but life-threatening condition. Herein, we present a case of pure IVH due to a ruptured
internal carotid artery -anterior choroidal artery (ICA-AChA) aneurysm and review related literature. A
77-year-old man presenting with altered mental status was hospitalized due to a massive pure IVH with
ventriculomegaly. The patient was conservatively managed because his consciousness level improved. On
the following day, computed tomography angiography revealed a right ICA-AChA aneurysm embedded
in the temporal lobe adjacent to the anterior part of the inferior horn of the lateral ventricle, which was
consistent with the hemorrhagic origin. Coil embolization of the aneurysm was successfully performed,
and the postprocedural course was uneventful. To date, only a few cases have described pure IVH caused
by a ruptured proximal aneurysm. If the ruptured proximal aneurysm remains unnoticed, catastrophic
rehemorrhage may occur. Aneurysm obliteration should precede the treatment of acute hydrocephalus.
Neurosurgeons/neurointerventionalists must be aware about pure IVH caused by a ruptured proximal
aneurysm even if it rarely occurs.
Complex aneurysm formation in the proximal segment of
the posterior cerebral artery: a report of two cases
Hiroo Sasaki, Syuntaro Takasu and Yukio Seki
pg(s) 350 - 356
<Abstract> - < PDF >
Posterior cerebral artery (PCA) aneurysms are rare and often fusiform. We describe two cases of
complex proximal PCA aneurysm in two women in their 60’s, which probably resulted from segmental
arterial degeneration. Both presented with subarachnoid hemorrhage and had common angiographic and
intraoperative findings: tortuous configuration of the affected P1 segment, whitish or yellowish appearance
of a portion of the lesion, lesion calcification, and multiple aneurysms in the segment. Interestingly, no
significant atherosclerotic changes were noted in other cerebral arteries. The ruptured aneurysm could be
successfully trapped, with superficial temporal artery (STA)-PCA bypass in one and without bypass in
the other, and both patients recovered well. As complex aneurysm formation in the cases described here
are probably related to proximal PCA segmental degeneration, we recommend trapping the lesion, with
or without STA-PCA bypass, depending on the size and patency of the posterior communicating artery.
Early diagnosis of neonatal-onset cyclic vomiting syndrome
Manami Ogata, Daisuke Shimizu, Shun Ichikawa, Shunsuke Araki,
Genshiro Esumi, Junko Yamamoto and Koichi Kusuhara
pg(s) 357 - 361
<Abstract> - < PDF >
Cyclic vomiting syndrome (CVS) is characterized by recurrent episodes of severe vomiting with a
completely asymptomatic interictal interval. Relatively few patients develop CVS in the neonatal period,
and an early diagnosis is difficult. We experienced an infant who was diagnosed with neonatal-onset CVS
in early infancy. An 8-day-old girl was admitted to our neonatal intensive care unit because of frequent
vomiting beginning 12 h after birth and weight loss reaching 84.2% of her birth weight. Despite extensive
examinations, no abnormalities to explain the vomiting were found. She continued to vomit, and a cyclical
pattern with a vomiting phase lasting for three days followed by a non-vomiting phase lasting for about
one to two weeks became obvious. Based on her clinical course, the family history of migraine and the
effectiveness of Phenobarbital, she was diagnosed with CVS at three months old. Although CVS is a
diagnosis of exclusion, a family history of migraine can aid its early diagnosis. If the illness is suspected
in the neonatal period, diagnostic treatment with Phenobarbital may be considered. The case suggests
the need to include CVS in the differential diagnosis of neonates with unexplained repetitive vomiting.
An extremely rare missense mutation of the androgen
receptor gene in a Vietnamese family with complete
androgen insensitivity syndrome
Thi Minh Thi Ha, Phan Tuong Quynh Le,
Thanh Nha Uyen Le and Thi Thuy Yen Hoang
pg(s) 362 - 368
<Abstract> - < PDF >
We report a Vietnamese family with complete androgen insensitivity syndrome that included several
phenotypic females who have a 46,XY karyotype with an extremely rare mutation of the androgen receptor
gene. The proband was a 27-year-old phenotypic adult female referred to our department for karyotyping
due to primary amenorrhea. Ultrasound examination revealed a small uterus. Chromosomal analysis showed
a 46,XY karyotype. A polymerase chain reaction assay revealed the presence of the sex-determining region
Y gene. Next-generation sequencing detected the NM_000044.6(AR):c.2170C>T(p.Pro274Ser) mutation,
which was confirmed by Sanger sequencing. There is only one previous report of this mutation in a child
with complete androgen insensitivity syndrome. In the family presented in this study, there were four
more phenotypic adult females with primary amenorrhea and a phenotypic female infant with testes in
the inguinal canals. The infant (first cousin once removed of the proband) presented with inguinal hernia/swelling
in a phenotypic female and one of the four abovementioned adults had similar genetic analysis
results. This is the second report of a missense mutation NM 000044.6(AR):c.2170C>T in the world and
the first study to document a pedigree consisting of several individuals with CAIS as a result of this
mutation. The presence of a tiny uterus in the proband, which is a rare occurrence in complete androgen
insensitivity syndrome, is a unique clinical indicator of the disorder’s variable expressivity.
Eighteen-years follow-up of congenital hypothyroidism by
TSHR gene p.Arg109Gln and p.Arg450His variants
Daisuke Watanabe, Hideaki Yagasaki, Yumiko Mitsui and Takeshi Inukai
pg(s) 369 - 374
<Abstract> - < PDF >
Congenital hypothyroidism (CH) is a common heterogeneous endocrine disorder. The thyroid-stimulating
hormone receptor gene (TSHR) is one of the major candidate genes associated with CH. Studies have
investigated the possible correlations between the specific clinical features and the presence of TSHR variants.
However, only a few reports have focused on the long-term follow-up of patients with CH. Here we
present a case of CH-associated TSHR p.Arg109Gln and p.Arg450His rare compound heterozygous variants,
with a follow-up performed until adolescence. The patient had high serum TSH levels during newborn
screening. Oral administration of levothyroxine (l-T4) was initiated at 1 month of age. The ultrasonogram
revealed normal thyroid morphology and blood flow. Reduced uptake of I-123 and negative perchlorate
test was observed. A small amount of l-T4 remained needed although l-T4 could be steadily reduced by
puberty. The patient was diagnosed with orthotopic, nongoitrous, and permanent CH. He had no nonclassical
TSH resistance. Patients with the TSHR p.Arg109Gln compound heterozygous variant exhibit permanent
CH with high TSH levels and normal or slightly lower fT4 levels. In the future, genotype identification
could help predict the long-term prognosis and reduce the requirement for detailed examinations. More
case studies are needed to determine the relationship between genetic variants and clinical features in CH.
Significance of an augmented response on cervical vestibular
evoked myogenic potential testing in Meniere’s disease
Masumi Kobayashi, Naomi Katayama, Tadao Yoshida,
Satofumi Sugimoto, Shinji Naganawa and Michihiko Sone
pg(s) 375 - 379
<Abstract> - < PDF >
The potential mechanism of augmented response on cervical vestibular evoked myogenic potential
(cVEMP) testing and its decrease following treatment in a patient with Meniere’s disease (MD) are
discussed. Changes of static posturography and cVEMP testing before and after a glycerol drip in a
69-year-old man with unilateral MD, in which significant endolymphatic hydrops (EH) was confirmed on
magnetic resonance imaging (MRI) on the diseased side, were evaluated. Values of total locus lengths,
areas of postural sway, and their Romberg ratios were decreased after the glycerol drip. On cVEMP testing,
the diseased ear demonstrated a 375% larger amplitude than the contralateral ear before treatment, but
both ears showed almost the same responses after treatment. An augmented response on cVEMP testing
and a decrease following treatment for MD reflect the diversity of clinical findings in MD. Responses on
cVEMP testing may relate not only to the degree of EH, but also be due to abnormal acoustic energy
absorbance transmitted into the saccule.
A case of middle cerebral artery large circumferential
aneurysm treated with bypass-assisted trapping surgery
Yusuke Sakamoto, Kenko Maeda, Masaya Takemoto, Jungsu Choo,
Mizuka Ikezawa, Ohju Fujita, Fumihiro Sago,
Daiki Somiya and Akira Ikeda
pg(s) 380 - 387
<Abstract> - < PDF >
M1 large circumferential aneurysms are clinically challenging because they cannot be treated by simple
neck clipping and they may involve the lenticulostriate arteries (LSAs). Although some reports have
described endovascular and direct surgical treatment of these aneurysms, the optimal treatment approach
remains uncertain. We report a case involving a ruptured large M1 circumferential aneurysm that was treated
with bypass-assisted trapping surgery and showed favorable outcomes. The patient was a 47-year-old man
presenting with subarachnoid hemorrhage. Digital subtraction angiography revealed a large circumferential
aneurysm in the right middle cerebral artery M1 segment with involvement of the lateral and medial LSAs.
We successfully performed trapping surgery with the assistance of a superficial temporal artery (STA)-M2
bypass while preserving the medial and lateral LSAs. Although left hemiparesis caused by medial LSA
thrombosis appeared in the early postoperative period, the patient showed good recovery from symptoms
with rehabilitation and could independently perform daily activities at the five-month follow-up. The treatment
of M1 large circumferential aneurysms should involve considerations for prevention of rebleeding,
blood supply to the distal area, and preservation of perforating arteries. The treatment strategy for this
challenging aneurysm should be planned based on the patient’s condition and individual anatomy.
Bilateral variation of the parotid gland in cadaver:
a case report
Serpil Cilingiroglu Anli and Zuhal Kazak
pg(s) 388 - 394
<Abstract> - < PDF >
Bilateral variation of the parotid gland is an anatomically rare entity. In this study, we present a
91-year-old female cadaver with aplasia of the parotid gland on the left side of the face and hypoplasia of
the parotid gland on the right side of the face. The accessory parotid glands on both sides were of normal
size, while bilateral submandibular glands were found to be larger than normal. The surgical anatomy of
the parotid gland is very important because this region of the face is a complex structure intertwined with
important vessels and nerves. Patients with aplasia, atresia, agenesis, or hypoplasia of the parotid gland
should be diagnosed early and proper treatment must be planned. Consequently, this case was found to
be remarkable in terms of the coexistence of parotid gland aplasia and hypoplasia.
Secondary aneurysmal bone cyst of the frontal bone with
fibrous dysplasia showing rapid expansion: a case report
Yuta Koketsu, Takafumi Tanei, Kyoko Kuwabara, Toshinori Hasegawa,
Takenori Kato, Satoshi Maesawa, Yusuke Nishimura,
Yoshio Araki and Ryuta Saito
pg(s) 395 - 401
<Abstract> - < PDF >
A 19-year-old woman presented with swelling of the left forehead without pain. She did not have
any relevant past or family history. Computed tomography showed destruction of the outer cortex of the
frontal bone. A solitary mass lesion with a fluid collection was detected with magnetic resonance imaging.
Because the swelling of the left forehead had enlarged rapidly with osteolytic changes, surgical removal
of the lesion was performed. The lesion appeared to be enveloped in a fibrous capsule. The soft lesion
was removed from the frontal bone. The outer frontal bone was absent, although the inner frontal bone
was preserved. Then, the frontal bone was resected with margins from the edge of the erosion. The dura
mater under the lesion was intact. A cranioplasty was performed using titanium mesh. On histological
examination, the trabecular bones revealed irregular shapes and arrangements, indicating fibrous dysplasia.
There was a continuous high-cell-concentration pathological lesion outside the fibrous dysplasia. There
were numerous cells, such as mononuclear cells, osteoclast-like multinucleated giant cells, foam cells,
and red blood cells. The osteoclast-like multinucleated giant cells and other cells did not show significant
nuclear atypia. Immunostaining with H3.3G34W was negative, and the ubiquitin-specific peptidase 6/Tre-2
gene showed no rearrangements. The histopathological diagnosis was secondary aneurysmal bone cyst
with fibrous dysplasia. Additional postsurgical therapy was not performed. There has been no evidence of
recurrence of the lesion for two years.