Publications by authors named "Minoru Shibata"

68 Publications

Ketogenic diet for refractory epilepsy with MEHMO syndrome: Caution for acute necrotizing pancreatitis.

Brain Dev 2021 Jun 11;43(6):724-728. Epub 2021 Mar 11.

Department of Pediatrics, Shiga Medical Center for Children, Shiga, Japan. Electronic address:

Background: The MEHMO (mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity) syndrome, which is caused by a hemizygous variant in the EIF2S3 gene on chromosome Xp22, is associated with significant morbidity and mortality. Refractory epileptic seizures and glucose dysregulation are characteristic manifestations of the MEHMO syndrome, which can often diminish patients' quality of life.

Case: A 5-year-old boy was referred to our hospital because of profound intellectual disability, micropenis, cryptorchidism, central hypothyroidism, and microcephaly. He had neonatal hypoglycemia at birth and later experienced refractory epileptic seizures and developed obesity and insulin-dependent diabetes. A diagnosis of MEHMO syndrome was established on the basis of the patient's clinical manifestations and de novo novel missense variant in the EIF2S3 gene (NM_001415.3:c.805 T > G) that was detected through whole-exome analysis. Although the patient's refractory seizures and diabetes had been well controlled with a combination of ketogenic diet (KD) therapy and insulin therapy, acute fatal necrotizing pancreatitis occurred at the age of 68 months. Moreover, despite intensive care, his condition rapidly deteriorated to multiple organ failure and acute respiratory distress syndrome, resulting in death.

Conclusion: The pathophysiology of glucose intolerance in MEHMO syndrome remains to be elucidated; however, recent studies have suggested that EIF2S3 gene variants could lead to glucose dysregulation and β-cell damage in the pancreas. We suspect that in the present case, KD therapy led to an abnormal load on the beta cells that were damaged owing to eIF2γ dysfunction. Therefore, the adverse effects of KD in patients with MEHMO syndrome should be considered.
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http://dx.doi.org/10.1016/j.braindev.2021.02.002DOI Listing
June 2021

Risk Factors for Cerebral Infarction in Duchenne Muscular Dystrophy: Review With our 2 Cases.

J Stroke Cerebrovasc Dis 2019 Sep 13;28(9):2453-2458. Epub 2019 Jul 13.

Department of Pediatrics, Shiga Medical Center for Children, Moriyama, Japan.

Background: Although the incidence of cerebral infarction is higher in Duchenne muscular dystrophy (.75 per 100) than in the general population (7.5-11.4 per 100 000), only 18 cases have been reported, and prevention and management guidelines for infarction in this disorder remain lacking.

Patients And Methods: We encountered 2 cases of Duchenne muscular dystrophy with cerebral infarction. To clarify risk factors for such infarction in Duchenne muscular dystrophy, we reviewed 20 cases, including our 2 patients.

Results: Age at onset of infarction ranged from 4 to 31 years (n = 19). Most patients were 16-21 years old (14 of 19; 73.7%). Eighteen patients (90%) had dilated cardiomyopathy (DCM), showing a higher frequency than in the age-matched general Duchenne muscular dystrophy population. Left ventricular ejection fraction (LVEF) ranged from 10.2% to 42% (median, 20%; n = 9). Detectable cardiac thrombus and atrial fibrillation were rare (2 of 17; 11.8%, and 1 of 17; 5.9%, respectively).

Conclusions: Presence of DCM with low LVEF seems to be the strongest risk factor for cerebral infarction in Duchenne muscular dystrophy.
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http://dx.doi.org/10.1016/j.jstrokecerebrovasdis.2019.06.023DOI Listing
September 2019

Development of a mouse nerve-transfer model for brachial plexus injury.

Biomed Res 2019 ;40(3):115-123

Division of Gross Anatomy and Morphogenesis, Department of Regenerative and Transplant Medicine, Niigata University Graduate School of Medical and Dental Sciences.

Nerve transfer involves the use of a portion of a healthy nerve to repair an injured nerve, and the process has been used to alleviate traumatic brachial plexus injuries in humans. Study of the neural mechanisms that occur during nerve transfer, however, requires the establishment of reliable experimental models. In this study, we developed an ulnar-musculocutaneous nerve-transfer model wherein the biceps muscle of a mouse was re-innervated using a donor ulnar nerve. Similar muscle action potentials were detected in both the end-to-end suture of the transected nerve (correctrepair) group and the ulnar-musculocutaneous nerve-transfer group. Also, re-innervated acetylcholine receptor (AChR) clusters and muscle spindles were observed in both procedures. There were fewer re-innervated AChR clusters in the nerve transfer group than in the correct repair group at 4 weeks, but the numbers were equal at 24 weeks following surgery. Thus, our ulnar-musculocutaneous nerve-transfer model allowed physiological and morphological evaluation for re-innervation process in mice and revealed the delay of this process during nerve transfer procedure. This model will provide great opportunities to study regeneration, re-innervation, and functional recovery induced via nerve transfer procedures.
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http://dx.doi.org/10.2220/biomedres.40.115DOI Listing
December 2019

Tomographic optical imaging of cortical responses after crossing nerve transfer in mice.

PLoS One 2018 14;13(2):e0193017. Epub 2018 Feb 14.

Department of Neurophysiology, Brain Research Institute, Niigata University, Niigata, Japan.

To understand the neural mechanisms underlying the therapeutic effects of crossing nerve transfer for brachial plexus injuries in human patients, we investigated the cortical responses after crossing nerve transfer in mice using conventional and tomographic optical imaging. The distal cut ends of the left median and ulnar nerves were connected to the central cut ends of the right median and ulnar nerves with a sciatic nerve graft at 8 weeks of age. Eight weeks after the operation, the responses in the primary somatosensory cortex (S1) elicited by vibratory stimulation applied to the left forepaw were visualized based on activity-dependent flavoprotein fluorescence changes. In untreated mice, the cortical responses to left forepaw stimulation were mainly observed in the right S1. In mice with nerve crossing transfer, cortical responses to left forepaw stimulation were observed in the left S1 together with clear cortical responses in the right S1. We expected that the right S1 responses in the untreated mice were produced by thalamic inputs to layer IV, whereas those in the operated mice were mediated by callosal inputs from the left S1 to layer II/III of the right S1. To confirm this hypothesis, we performed tomographic imaging of flavoprotein fluorescence responses by macroconfocal microscopy. Flavoprotein fluorescence responses in layer IV were dominant compared to those in layer II/III in untreated mice. In contrast, responses in layer II/III were dominant compared to those in layer IV in operated mice. The peak latency of the cortical responses in the operated mice was longer than that in the untreated mice. These results confirmed our expectation that drastic reorganization in the cortical circuits was induced after crossing nerve transfer in mice.
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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0193017PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5812646PMC
May 2018

Left ventricular noncompaction cardiomyopathy in a patient with trisomy 13: A report and review of the literature.

Am J Med Genet A 2017 Jul 9;173(7):1947-1950. Epub 2017 May 9.

Department of Pediatrics, Shiga Medical Center for Children, Moriyama, Japan.

Left ventricular noncompaction cardiomyopathy (LVNC) is characterized by prominent trabecular meshwork, and it is thought to result from arrest of the normal compaction process during embryogenesis. Patients with LVNC may be asymptomatic or have symptoms ranging from heart failure to stroke, life-threatening arrhythmias, or sudden death. The frequency of LVNC in children has increased with longer clinical courses. About 80% of patients with trisomy 13 have a congenital cardiac abnormality, but a clinical description of LVNC with trisomy 13 is lacking because of its poor prognosis and lack of awareness about LVNC. We described a patient with trisomy 13 who was diagnosed with LVNC-dilated phenotype and died suddenly, as well as two additional patients with LVNC. All three patients had chronic heart failure without congenital heart disease and were treated with diuretics. To manage trisomy 13 with or without congenital heart disease, cardiac disease such as LVNC may present at any ages, and therefore cardiac evaluation should be considered as a part of their appropriate management.
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http://dx.doi.org/10.1002/ajmg.a.38270DOI Listing
July 2017

A patient with Joubert syndrome who developed sleep-related breathing disorder at 15 years of age.

No To Hattatsu 2016 Nov;48(6):430-3

Joubert syndrome is characterized by neonatal breathing disorders that are thought to improve with age, but recent findings indicate that sleep-related breathing disorders can occur even after infancy. A 15-year-old boy who had a breathing disorder during the neonatal period developed mental retardation and hypotonia. He was diagnosed with Joubert syndrome based on the clinical course and molar tooth sign on brain MRI at 9 years of age. Daytime sleepiness developed at 15 years of age. An interview and the results of sleep questionnaires (Epworth sleepiness scale, Pediatric sleep questionnaire and Pittsburgh sleep quality index), indicated that the patient had daytime sleepiness and a sleep-related breathing disorder. Overnight polysomnography showed central apnea with an apnea hypopnea index of 16, indicating that the patient had central sleep apnea syndrome. After nighttime oxygen therapy at home for one month, the sleep questionnaires showed improved daytime sleepiness and the sleep-related breathing disorder. The improvement persisted for over 12 months thereafter. Sleep-related breathing disorders could be indicated by non-specific complaints such as daytime sleepiness and lead to appropriate therapies. Such disorders should be considered as a complication of Joubert syndrome even after infancy.
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November 2016

Effects and limits of acute noninvasive positive pressure ventilation in children with severe motor and intellectual disabilities with pneumonia/bronchitis.

No To Hattatsu 2016 Nov;48(6):420-4

Objective: We have frequently applied noninvasive positive pressure ventilation (NPPV) to treat acute respiratory failure in children with severe motor and intellectual disabilities. We investigated the features and causes of conditions requiring endotracheal intubation. We aimed to determine whether phlegm expulsion using appropriate breathing physiotherapy with NPPV could avoid the need for endotracheal intubation in such patients. Methods: Between December 2010 and November 2012, 21 children with 51 episodes of acute respiratory failure were placed on NPPV at our hospital. We investigated the ratio, background, and causes of conditions requiring endotracheal intubation. Results: Pneumonia and bronchitis caused 30 and 21 episodes of respiratory failure, respectively. Respiratory infection required endotracheal intubation in 8 of 30 episodes of pneumonia, and in none of the 21 episodes of bronchitis. Respiratory infections were caused by upper airway obstruction with large amounts of secretion (n=4), lower airway obstruction due to atelectasis (n=3) and a combination of both (n=1). The frequency of breathing physiotherapy was significantly higher for all patients who required assistance with active phlegm expulsion than in those who did not (p=0.006). More patients on endotracheal intubation also required phlegm aspiration compared with other patients (p=0.019). Conclusion: We applied NPPV to acute respiratory failure in children with severe motor and intellectual disabilities. This allowed 84% of them to avoid endotracheal intubation. Acute respiratory failure did not improve in any patient who required endotracheal intubation, but we also used NPPV with breathing physiotherapy and postural drainage. Assistance with phlegm expulsion is hampered in children with severe motor and intellectual disabilities due to conditions such as thoracic deformations, joint contracture and glossoptosis. We consider that assistance with phlegm expulsion using appropriate breathing physiotherapy with NPPV is very important for such patients.
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November 2016

[Enteral nutrition ameliorated superior mesenteric artery syndrome in a patient with Duchenne muscular dystrophy].

No To Hattatsu 2016 Jan;48(1):37-40

The abdominal complications of Duchenne muscular dystrophy (DMD) include acute gastric dilatation, superior mesenteric artery (SMA) syndrome, ileus and constipation. We report herein a patient with DMD in whom SMA syndrome was successfully treated with enteral tube nutrition. The patient was a 16-year-old boy diagnosed with DMD at 2 years. Steroid therapy was started at 5 years, and he was unable to walk and was wheelchair-bound at 11 years. Lordoscoliosis progressed after the age of 14 years. Noninvasive mechanical ventilation was introduced due to respiratory impairment at 15 years. During 8 months with respiratory impairment, his body weight decreased from 40.3 kg to 33.4 kg. He was referred to our hospital for vomiting and hematemesis. Radiographic studies indicated a diagnosis of SMA syndrome. Enteral nutrition with a nasojejunal tube successfully treated SMA syndrome for 5 months and his body weight increased from 32.7 kg to 36.1 kg. Gastrostomy was subsequently performed and no recurrence was evident. SMA syndrome is caused by compression of the third part of the duodenum at the angle between the aorta and SMA. The conditions for duodenal vascular compression are weight loss resulting in depletion of the retroperitoneal fat and progressive lordosis. The reasons for SMA syndrome with our patient were weight loss and progressive lordoscoliosis. A conservative approach with enteral nutrition promoted weight gain, increasing retroperitoneal fat. Enteral nutrition should be considered for the treatment of SMA syndrome as a complication of DMD.
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January 2016

ALDH18A1-related cutis laxa syndrome with cyclic vomiting.

Brain Dev 2016 Aug 29;38(7):678-84. Epub 2016 Jan 29.

Department of Pediatrics, Shiga Medical Center for Children, Shiga, Japan.

Cutis laxa (CL) syndromes are connective tissue disorders characterized by redundant, sagging, inelastic and wrinkled skin, with organ involvement. Here, we describe a patient with ALDH18A1-related CL who developed cyclic vomiting. The patient was a 12-year-old boy who presented with poor postnatal growth, hypotonia, short stature, joint hyperlaxity, microcephaly, strabismus, bilateral cataracts, facial dysmorphism and severe mental retardation. Bone radiographs showed osteopenia and osteoporosis, and magnetic resonance angiography showed marked kinking and tortuosity of the brain vessels. These findings were clinically compatible with ALDH18A1-related CL. Molecular analysis revealed a de novo heterozygous mutation (p.R138Q) in ALDH18A1. No mutations were found in PYCR1 gene. The patient developed cyclic vomiting with decreased blood levels of ornithine, citrulline, arginine and proline without hyperammonemia and other hypoaminoacidemias were also found. ALDH18A1 encodes Δ(1)-pyrroline-5-carboxylate synthase, which is related to the biosynthesis of ornithine, citrulline, arginine, and proline. Cyclic vomiting has never been reported in other ALDH18A1-related CL patients. This is the first case report of ALDH18A1-related CL with cyclic vomiting associated with amino acid abnormalities.
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http://dx.doi.org/10.1016/j.braindev.2016.01.003DOI Listing
August 2016

Long-term weekly ACTH therapy for relapsed West syndrome in tuberous sclerosis complex: A case report.

Brain Dev 2016 Apr 21;38(4):431-4. Epub 2015 Oct 21.

Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.

Background: In Japan, adrenocorticotropic hormone (ACTH) therapy has been the mainstay of treatment of West syndrome. Conventional ACTH therapy is administered short-term with efficacy, yet the relapse rate is high. Relapse after initial ACTH therapy is a poor prognostic factor for long-term seizure control and outcome of cognitive function. Here, we report successful long-term weekly ACTH therapy for relapsed WS in a tuberous sclerosis complex (TSC) child after conventional ACTH therapy.

Patient: The patient had a series of epileptic spasms (ES) and hypsarrhythmia at age 3 months. She was diagnosed with WS associated with TSC, and was treated with conventional ACTH therapy at age 4 months, and a second course of ACTH therapy at age 8 months. Both courses of therapy were transiently effective. A third course of ACTH therapy was started at age 1 year and 2 months, and long-term weekly ACTH therapy was continued thereafter. During this therapy, both ES and hypsarrhythmia remained completely resolved. Therapy was continued, and dose reduction was started when the patient was 2 years and 10 months old. No serious adverse events had occurred during this therapy.

Conclusion: This case demonstrated that long-term weekly ACTH may be safe and effective. Although at present, this therapy may only be considered for relapsed symptomatic WS patients, it may be a good alternative therapy when frequent relapses occur after favorable response to conventional ACTH therapy.
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http://dx.doi.org/10.1016/j.braindev.2015.10.004DOI Listing
April 2016

Vein/Arterial Grafts Harvested within the Incision for a Free Groin Flap.

Plast Reconstr Surg Glob Open 2015 Jun 8;3(6):e407. Epub 2015 Jul 8.

Department of Plastic and Reconstructive Surgery, Niigata University Graduate School of Medicine, Niigata, Japan; Department of Plastic and Reconstructive Surgery, Osaka University Graduate School of Medicine, Osaka, Japan; and Department of Plastic and Reconstructive Surgery, Toho University Sakura Medical Center, Chiba, Japan.

The free groin flap results in less donor-site morbidity than other skin flaps and is suitable for use in children and adolescents. However, the vascular pedicle is relatively short and vessel diameter is small, which makes vascular anastomosis technically difficult. To overcome this limitation, we harvested vein and arterial grafts from the flap elevation area without placing additional skin incisions. Use of short (2-3 cm) vein/arterial grafts greatly simplified flap insetting and vascular anastomosis. This procedure may expand the indications for free groin flap transfer.
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http://dx.doi.org/10.1097/GOX.0000000000000379DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4494477PMC
June 2015

End-to-side "loop" graft for total facial nerve reconstruction: Over 10 years experience.

J Plast Reconstr Aesthet Surg 2015 Aug 20;68(8):1054-63. Epub 2015 Apr 20.

Department of Plastic and Reconstructive Surgery, Osaka University Graduate School of Medicine, Osaka, Japan.

Background: Multiple-branch reconstruction is required in order to attain facial reanimation for extensive facial nerve defects. We previously reported that end-to-side nerve grafting, with the use of a single nerve graft for defect reconstruction, was easy to perform. We have also demonstrated the efficacy of end-to-side nerve suture of the recipient nerve to the donor graft nerve, in experimental rat models and clinical cases. The regenerating axons, which extended into the nerve graft, were "distributed" to multiple recipient nerves via end-to-side nerve-suture sites.

Methods: Thirty-two patients who underwent facial nerve reconstruction (five to 10 branches) had a single sural nerve graft coapted to the proximal stump of the facial nerve in an end-to-end manner, followed by end-to-side nerve suture of the recipient nerve stumps to the side of the nerve graft. In 19 patients who were expected to undergo postoperative radiotherapy and/or chemotherapy, the distal end of the graft was connected to the side of the hypoglossal nerve for "axonal supercharging," to enhance the recovery of the facial muscles.

Results: Initial facial movements were noted at 5-12 months postoperatively, and good recovery (House-Brackmann grade III/IV) was observed during long-term follow-up in most patients.

Conclusion: End-to-side nerve suture of the recipient nerve stumps to the nerve graft requires less graft nerve material and less technical mastery to reconstruct multiple branches of the facial nerve. We also described the concept of "axonal supercharging," namely the connection of double-donor neural sources to the graft, and "axonal distribution," namely the reinnervation of multiple recipient nerve stumps connected to the graft in an end-to-side manner. This combination of axonal supercharging and distribution can be a useful option in facial nerve reconstruction.
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http://dx.doi.org/10.1016/j.bjps.2015.04.005DOI Listing
August 2015

Severe acute abdomen caused by symptomatic Meckel's diverticulum in three children with trisomy 18.

Am J Med Genet A 2015 Oct 5;167A(10):2447-50. Epub 2015 Apr 5.

Department of Pediatrics, Shiga Medical Center for Children, Moriyama, Japan.

Meckel's diverticulum (MD) is the most prevalent congenital anomaly of the gastrointestinal tract and often presents a diagnostic challenge. Patients with trisomy 18 frequently have MD, but the poor prognosis and lack of consensus regarding management for neonates has meant that precise information on the clinical manifestations in infants and children with MD is lacking. We describe the cases of three children with trisomy 18 who developed symptomatic MD. Intussusception was diagnosed in Patient 1, intestinal volvulus in Patient 2, and gastrointestinal bleeding in Patient 3. All three patients underwent surgical treatment and only the Patient 1 died due to pulmonary hypertensive crisis. The other two patients experienced no further episodes of abdominal symptoms. In patients with trisomy 18, although consideration of postoperative complications and prognosis after surgical treatment is necessary, symptomatic MD should carry a high index of suspicion in patients presenting with acute abdomen.
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http://dx.doi.org/10.1002/ajmg.a.37098DOI Listing
October 2015

Free perivascular tissue flap transfer.

J Plast Reconstr Aesthet Surg 2015 Jul 19;68(7):973-8. Epub 2015 Mar 19.

Department of Plastic and Reconstructive Surgery, Osaka University Graduate School of Medicine, Osaka, Japan.

Local flaps and composite grafting are the procedures of choice for reconstructing relatively small soft tissue defects. However, despite their limited conveyable volume, local flaps sometimes require a wide dissection area and long new incisions. Composite grafts also have serious limitations and require a well-vascularized recipient bed. To overcome these limitations, we used a free vascularized perivascular tissue flap based on the descending branch of the lateral femoral circumflex artery. Using this method, we performed reconstructions for seven patients (four cases in head and neck region and three cases in lower limb) with various soft tissue defects (ranged from 4.0 cm(3) to 40.0 cm(3)). This flap was easily elevated, without the need for precise preoperative flap design, and the flap volume was adjustable regardless of whether deep fascia and muscle were included. The flap has a rich vascular supply, which allows bone and cartilage tissue to be combined with the transfer of soft tissue, and satisfactorily treats chronic wounds with poor blood supply.
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http://dx.doi.org/10.1016/j.bjps.2015.03.005DOI Listing
July 2015

[A family with creatine transporter deficiency diagnosed with urinary creatine/creatinine ratio and the family history: the third Japanese familial case].

No To Hattatsu 2015 Jan;47(1):49-52

Creatine transporter deficiency (CRTR-D) is an X-linked disorder characterized by hypotonia, developmental delay, and seizures. We report the third Japanese family with CRTR-D. The proband was an 8-year-old boy who presented with hypotonia, severe intellectual disability and two episodes of seizures associated with/without fever. Among 7 siblings (4 males, 3 females), the eldest brother had severe intellectual disability, epilepsy, and sudden death at 17 years of age, while 18-year-old third elder brother had severe intellectual disability, autism, and drug-resistant epilepsy. The proband's urinary creatine/creatinine ratio was increased. A reduced creatine peak on brain magnetic resonance spectroscopy and a known pathogenic mutation in the SLC6A8 gene (c.1661 C > T;p.Pro554Leu) confirmed the diagnosis of CRTR-D. The same mutation was found in the third elder brother. Their mother was a heterozygote. Symptoms of CRTR-D are non-specific. Urinary creatine/creatinine ratio should be measured in patients with hypotonia, developmental delay, seizure and autism whose family history indicates an X-linked inheritance.
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January 2015

Eyebrow reconstruction using a composite skin graft from sideburns.

Plast Reconstr Surg Glob Open 2015 Jan 6;3(1):e290. Epub 2015 Feb 6.

Division of Plastic and Reconstructive Surgery, Niigata University Graduate School of Medicine, Niigata, Japan; and Department of Plastic and Reconstructive Surgery, Osaka University Graduate School of Medicine, Osaka, Japan.

Wide resection of malignant skin tumors in the upper orbital region often results in soft-tissue defects involving the eyebrow. We used composite skin grafts from the area around the sideburns for 1-stage reconstruction of skin and eyebrow defects. The results were aesthetically satisfying because the hair and shape of these regions were similar to those of the original eyebrow, and donor-site closure was easy with inconspicuous scar. The survival of full-thickness skin graft area of composite grafts from sideburn facilitates revascularization of thicker hair follicles in the graft and allows safe, natural eyebrow reconstruction.
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http://dx.doi.org/10.1097/GOX.0000000000000264DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4323394PMC
January 2015

Simple method to prevent retention of skin staples.

Eplasty 2015 14;15:e2. Epub 2015 Jan 14.

Department of Plastic and Reconstructive Surgery, Osaka University Graduate School of Medicine, Osaka, Japan.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4295574PMC
February 2015

A boy with unilateral neck myoclonus of cortical origin independently on both sides.

Seizure 2015 Jan 23;24:131-3. Epub 2014 Jul 23.

Department of Pediatrics, Kyoto University Graduate School of Medicine, 54 Kawaharacho, Shogoin, Sakyo-ku, Kyoto 606-8507, Japan.

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http://dx.doi.org/10.1016/j.seizure.2014.07.010DOI Listing
January 2015

Hypergonadotropic hypogonadism and hypersegmented neutrophils in a patient with ataxia-telangiectasia-like disorder: potential diagnostic clues?

Am J Med Genet A 2014 Jul 14;164A(7):1830-4. Epub 2014 Apr 14.

Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan.

Ataxia-telangiectasia-like disorder (ATLD) is a rare autosomal recessive disorder, and has symptoms similar to ataxia-telangiectasia (AT). ATLD is caused by mutations in the MRE11 gene, involved in DNA double-strand break repair (DSBR). In contrast to AT, ATLD patients lack key clinical features, such as telangiectasia or immunodeficiency, and are therefore difficult to be diagnosed. We report a female ATLD patient presenting with hypergonadotropic hypogonadism and hypersegmented neutrophils, previously undescribed features in this disorder, and potential diagnostic clues to differentiate ATLD from other conditions. The patient showed slowly progressive cerebellar ataxia from 2 years of age, and MRI revealed atrophy of the cerebellum, oculomotor apraxia, mild cognitive impairment, writing dystonia, hypergonadotropic hypogonadism with primary amenorrhea, and hypersegmented neutrophils. Western blot assay demonstrated total loss of MRE11 and reduction of ATM-dependent phosphorylation; thus, we diagnosed ATLD. Genetically, a novel missense mutation (c.140C>T) was detected in the MRE11 gene, but no other mutation was found in the patient. Our presenting patient suggests that impaired DSBR may be associated with hypergonadotropic hypogonadism and neutrophil hypersegmentation. In conclusion, when assessing patients with ataxia of unknown cause, ATLD should be considered, and the gonadal state and peripheral blood smear samples evaluated.
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http://dx.doi.org/10.1002/ajmg.a.36546DOI Listing
July 2014

Free flap transfer for complex regional pain syndrome type II.

Case Reports Plast Surg Hand Surg 2014 16;1(1):1-4. Epub 2014 Oct 16.

Division of Plastic and Reconstructive Surgery, Niigata University Graduate School of Medicine , Niigata, Japan.

A patient with complex regional pain syndrome type II was successfully treated using free anterolateral thigh flap transfer with digital nerve coaptation to the cutaneous nerve of the flap. Release of the scarred tissue and soft tissue coverage with targeted sensory nerve coaptation were useful in relieving severe pain.
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http://dx.doi.org/10.3109/23320885.2014.966106DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4627105PMC
June 2016

Compound heterozygous deletions in pseudoautosomal region 1 in an infant with mild manifestations of langer mesomelic dysplasia.

Am J Med Genet A 2014 Feb 5;164A(2):505-10. Epub 2013 Dec 5.

Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan; Department of Pediatrics, Dokkyo Medical University Koshigaya Hospital, Koshigaya, Japan.

Haploinsufficiency of SHOX on the short arm pseudoautosomal region (PAR1) leads to Leri-Weill dyschondrosteosis (LWD), and nullizygosity of SHOX results in Langer mesomelic dysplasia (LMD). Molecular defects of LWD/LMD include various microdeletions in PAR1 that involve exons and/or the putative upstream or downstream enhancer regions of SHOX, as well as several intragenic mutations. Here, we report on a Japanese male infant with mild manifestations of LMD and hitherto unreported microdeletions in PAR1. Clinical analysis revealed mesomelic short stature with various radiological findings indicative of LMD. Molecular analyses identified compound heterozygous deletions, that is, a maternally inherited ∼46 kb deletion involving the upstream region and exons 1-5 of SHOX, and a paternally inherited ∼500 kb deletion started from a position ∼300 kb downstream from SHOX. In silico analysis revealed that the downstream deletion did not affect the known putative enhancer regions of SHOX, although it encompassed several non-coding elements which were well conserved among various species with SHOX orthologs. These results provide the possibility of the presence of a novel enhancer for SHOX in the genomic region ∼300 to ∼800 kb downstream of the start codon.
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http://dx.doi.org/10.1002/ajmg.a.36284DOI Listing
February 2014

Paroxysmal gaze deviations as the sole manifestation of occipital lobe epilepsy.

Seizure 2013 Dec 17;22(10):913-5. Epub 2013 Jul 17.

Department of Pediatrics, Kyoto University Hospital, 54 Shogoin-Kawaharacho, Sakyo-ku, Kyoto 606-8507, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.seizure.2013.06.012DOI Listing
December 2013

Effects of preterm birth on intrinsic fluctuations in neonatal cerebral activity examined using optical imaging.

PLoS One 2013 28;8(6):e67432. Epub 2013 Jun 28.

Japan Science Technology Agency, Exploratory Research for Advanced Technology (ERATO), Okanoya Emotional Information Project, Honcho, Kawaguchi, Saitama, Japan.

Medical advancements in neonatology have significantly increased the number of high-risk preterm survivors. However, recent long-term follow-up studies have suggested that preterm infants are at risk for behavioral, educational, and emotional problems. Although clear relationships have been demonstrated between preterm infants and developmental problems during childhood and adolescence, less is known about the early indications of these problems. Recently, numerous studies on resting-state functional connectivity (RSFC) have demonstrated temporal correlations of activity between spatially remote cortical regions not only in healthy adults but also in neuropathological disorders and early childhood development. In order to compare RSFC of the cerebral cortex between preterm infants at term-equivalent ages and full-term neonates without any anatomical abnormality risk during natural sleep, we used an optical topography system, which is a recently developed extension of near-infrared spectroscopy. We clarified the presence of RSFC in both preterm infants and full-term neonates and showed differences between these groups. The principal differences were that on comparison of RSFC between the bilateral temporal regions, and bilateral parietal regions, RSFC was enhanced in preterm infants compared with full-term neonates; whereas on comparison of RSFC between the left temporal and left parietal regions, RSFC was enhanced in full-term neonates compared with preterm infants. We also demonstrated a difference between the groups in developmental changes of RSFC related to postmenstrual age. Most importantly, these findings suggested that preterm infants and full-term neonates follow different developmental trajectories during the perinatal period because of differences in perinatal experiences and physiological and structural development.
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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0067432PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3696115PMC
January 2014

A case of saddle nose deformity caused by relapsing polychondritis: a long-term follow-up report after iliac bone grafting.

J Plast Reconstr Aesthet Surg 2013 Nov 4;66(11):1621-2. Epub 2013 Jun 4.

Division of Plastic and Reconstructive Surgery, Niigata University Graduate School of Medical and Dental Sciences, 1-757 Asahimachi-dori, Chuo-ward, Niigata 951-8510, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.bjps.2013.05.013DOI Listing
November 2013

Salivary biomarkers are not suitable for pain assessment in newborns.

Early Hum Dev 2013 Jul 10;89(7):503-6. Epub 2013 Apr 10.

Department of Pediatrics, Kyoto University Hospital, 54 Shogoin-Kawaharacho, Sakyo-ku, Kyoto 606-8507, Japan.

Background And Aims: Newborns admitted to the neonatal intensive care unit are repeatedly subjected to painful or stressful procedures; therefore, objective assessment of their pain is essential. An increasing number of scales for neonatal pain assessment have been developed, many of which are based on physiological and behavioral factors. Recently, salivary biomarkers have been used to assess stress in adults and older infants. This study aimed to determine whether salivary biomarkers can be useful objective indices for assessing newborn pain.

Study Design: A total of 47 healthy newborns were enrolled 3-4days after birth. Heel lancing was performed to collect blood for a newborn screening test. Before and after heel lancing, saliva was collected to analyze hormone levels, a video was recorded for behavioral observations, and heart rate was recorded. Two investigators independently assessed newborn pain from the video observations using the Neonatal Infant Pain Scale (NIPS). Salivary chromogranin (sCgA) and salivary amylase (sAA) levels were measured using an enzyme-linked immunosorbent assay kit and a dry chemistry system, respectively.

Results: No definite changes in salivary biomarkers (sCgA or sAA) were detected before and after heel lancing. However, newborn sCgA levels were markedly higher than reported adult levels, with large inter- and intra-subject variability, whereas newborn sAA levels were lower than adult levels. NIPS score and heart rate were dramatically increased after heel lancing.

Conclusions: NIPS score (behavioral assessment) and heart rate are useful stress markers in newborns. However, neither sCgA nor sAA is suitable for assessing newborn pain.
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http://dx.doi.org/10.1016/j.earlhumdev.2013.03.006DOI Listing
July 2013

Decreased right temporal activation and increased interhemispheric connectivity in response to speech in preterm infants at term-equivalent age.

Front Psychol 2013 1;4:94. Epub 2013 Mar 1.

Okanoya Emotional Information Project, The Exploratory Research for Advanced Technology, Japan Agency of Science and Technology Saitama, Japan ; Graduate School of Education, Kyoto University Kyoto, Japan.

Preterm infants are at increased risk of language-related problems later in life; however, few studies have examined the effects of preterm birth on cerebral responses to speech at very early developmental stages. This study examined cerebral activation and functional connectivity in response to infant-directed speech (IDS) and adult-directed speech (ADS) in full-term neonates and preterm infants at term-equivalent age using 94-channel near-infrared spectroscopy. The results showed that compared with ADS, IDS increased activity in larger brain areas such as the bilateral frontotemporal, temporal, and temporoparietal regions, both in full-term and preterm infants. Preterm infants exhibited decreased activity in response to speech stimuli in the right temporal region compared with full-term infants, although the significance was low. Moreover, preterm infants exhibited increased interhemispheric connectivity compared with full-term controls, especially in the temporal and temporoparietal regions. These differences suggest that preterm infants may follow different developmental trajectories from those born at term owing to differences in intrauterine and extrauterine development.
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http://dx.doi.org/10.3389/fpsyg.2013.00094DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3585712PMC
March 2013

MRI gadolinium enhancement precedes neuroradiological findings in acute necrotizing encephalopathy.

Brain Dev 2013 Nov 20;35(10):921-4. Epub 2012 Dec 20.

Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan. Electronic address:

We report a 2-year-old Japanese boy with acute necrotizing encephalopathy (ANE) triggered by human herpes virus-6, who presented insightful magnetic resonance imaging (MRI) findings. He was admitted due to impaired consciousness and a convulsion, 2 days after the onset of an upper respiratory infection. At admission, cranial MRI showed marked gadolinium enhancement at the bilateral thalami, brainstem and periventricular white matter without abnormal findings in noncontrast MRI sequences. On the following day, noncontrast computed tomography demonstrated homogeneous low-density lesions in the bilateral thalami and severe diffuse brain edema. The patient progressively deteriorated and died on the 18th day of admission. The pathogenesis of ANE remains mostly unknown, but it has been suggested that hypercytokinemia may play a major role. Overproduced cytokines cause vascular endothelial damage and alter the permeability of the vessel wall in the multiple organs, including the brain. The MRI findings in our case demonstrate that blood-brain barrier permeability was altered prior to the appearance of typical neuroradiological findings. This suggests that alteration of blood-brain barrier permeability is the first step in the development of the brain lesions in ANE, and supports the proposed mechanism whereby hypercytokinemia causes necrotic brain lesions. This is the first report demonstrating MRI gadolinium enhancement antecedent to typical neuroradiological findings in ANE.
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http://dx.doi.org/10.1016/j.braindev.2012.11.011DOI Listing
November 2013

Limited response to CRH stimulation tests at 2 weeks of age in preterm infants born at less than 30 weeks of gestational age.

Clin Endocrinol (Oxf) 2013 May;78(5):724-9

Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.

Background: The high incidence of glucocorticoid-responsive complications in extremely preterm infants suggests the immaturity of their adrenal function; however, knowledge of the hypothalamus-pituitary-adrenal (HPA) axis in extremely preterm infants is limited.

Methods: To clarify the characteristics of the HPA axis in preterm very low birthweight (VLBW) infants, we performed CRH tests repeatedly: at about 2 weeks of age and at term (37-41 weeks of postmenstrual age) for 21 VLBW infants with a gestational age (GA) <30 weeks at birth.

Results: Basal cortisol values at 2 weeks of age were significantly higher than those at term in VLBW infants < 30 weeks of gestation at birth (304·1 ± 146·3 nmol/l vs 184·7 ± 108·2 nmol/l). Response to corticotropin-releasing hormone (CRH) stimulation tests at 2 weeks of age was significantly lower than at term (delta cortisol 148·3 ± 90·7 nmol/l vs 271·8 ± 167·0 nmol/l, delta ACTH 3·9 ± 3·2 pmol/l vs 12·3 ± 9·2 pmol/l, respectively). We found that earlier GA contributed to the higher basal cortisol values, and antenatal glucocorticoid (AG) contributed to the lower response of cortisol to CRH tests at 2 weeks of age.

Conclusions: VLBW infants showed a characteristic pattern in the HPA axis at 2 weeks of age: higher basal cortisol values and lower response to CRH tests. This study suggested that AG was related to the lower response to CRH tests, at least partly.
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http://dx.doi.org/10.1111/cen.12049DOI Listing
May 2013

Morphological assessment of early axonal regeneration in end-to-side nerve coaptation models.

J Plast Surg Hand Surg 2012 Oct 30;46(5):299-307. Epub 2012 Aug 30.

Division of Microscopic Anatomy and Bio-Imaging, Niigata University Graduate School of Medical and Dental Sciences, Niigata City, Japan.

Histological changes were observed in peripheral nerves following end-to-side nerve coaptation to determine the effects of perineurial opening and deliberate donor nerve injury during surgery. Twenty rats were randomised into four groups as follows: group 1, end-to-side nerve coaptation without perineurial opening; group 2, end-to-side nerve coaptation with simple perineurial opening; group 3, end-to-side nerve coaptation with partial crush injury after perineurial opening; group 4, end-to-side nerve coaptation with partial neurotomy after perineurial opening. Seven days after coaptation of the musculocutaneous (recipient) nerve to the ulnar (donor) nerve, the nerves were immunohistochemically analysed using antibodies against neurofilament-H (RT97) and phosphorylated GAP-43 (p-GAP-43). The former labels all axons, including regenerating axons and degenerated axonal debris, while the latter only labels regenerating axons. Results demonstrated no regenerating nerves in the recipient nerve of group 1. In group 2, because nerve herniation from the perineurial opening partially injured donor nerve fibres, some regenerating axons extended proximally and distally along the partially injured fibres in the donor nerve; some of these regenerating axons also extended into the recipient nerve via the perineurial opening. In groups 3 and 4, thin regenerating axons were more prominent in recipient and donor nerves compared with group 2. Statistical evaluation revealed increased efficacy of perineurial opening and deliberate donor nerve injury in end-to-side nerve coaptation, suggesting that partial nerve fibre herniation with partial axonotmesis or neurotomesis was important for effective axonal regeneration in end-to-side nerve coaptation.
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http://dx.doi.org/10.3109/2000656X.2012.696264DOI Listing
October 2012

Chronic immune-mediated axonal polyneuropathy following umbilical cord blood transplant for childhood-onset cerebral adrenoleukodystrophy.

Pediatr Transplant 2012 Dec 21;16(8):E388-91. Epub 2012 Jun 21.

Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.

Peripheral polyneuropathy is an unusual complication after organ transplantation and HSCT. The present study describes the case of an eight-yr-old boy diagnosed with ALD who underwent HLA-matched UCBT under a reduced-intensity conditioning regimen and developed progressive walking difficulty and hand clumsiness 11 months after transplantation. These symptoms were associated with cGVHD, identified as immune-mediated axonopathy by electrophysiological examination and sural nerve biopsy. Peripheral polyneuropathy should be kept in mind as a complication of GVHD.
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http://dx.doi.org/10.1111/j.1399-3046.2012.01748.xDOI Listing
December 2012