Publications by authors named "Ryosuke Bo"

Article Synopsis
  • Duchenne muscular dystrophy (DMD) is a disease that causes weakness in the muscles and sometimes makes it hard for patients to swallow, leading to the need for a feeding tube called a gastrostomy.
  • In a study at Kobe University Hospital, researchers looked at medical records from patients with DMD over many years to find out how often they needed a gastrostomy and how well they did after getting one.
  • They found only a few patients needed the feeding tube, and some had serious complications afterward, which shows that careful planning is very important for helping these patients live better lives.
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Purpose: Inborn errors of metabolism (IEM) are known with poor long-term health concerns; however, the health-related quality of life (HRQoL) and the burden placed on families remain unclear. This study investigated the self- and proxy-reported HRQoL of pediatric patients with IEM with or without developmental disabilities and the burden placed on their caregivers.

Methods: Patients with IEM aged 8-15 years and their caregivers were asked to respond to the Pediatric Quality of Life Inventory (PedsQL), EuroQoL five-dimension questionnaire for younger populations (EQ-5D-Y), and Japanese version of the Zarit Caregiver Burden Interview (J-ZBI).

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Newborn screening (NBS) for spinal muscular atrophy (SMA) is necessary, as favorable outcomes can be achieved by treatment with disease-modifying drugs in early infancy. Although SMA-NBS has been initiated in Japan, its clinical results have not been fully reported. We report the findings of the initial 2.

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The survival motor neuron 2 () gene is a recognized modifier gene of spinal muscular atrophy (SMA). However, our knowledge about the role of -other than its modification of SMA phenotypes-is very limited. Discussions regarding the relationship between homozygous deletion and motor neuron diseases, including amyotrophic lateral sclerosis, have been mainly based on retrospective epidemiological studies of the diseases, and the precise relationship remains inconclusive.

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Article Synopsis
  • - Citrin deficiency is an autosomal recessive disorder caused by mutations in the SLC25A13 gene, leading to conditions like intrahepatic cholestasis and various metabolic issues in infants, known as neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD).
  • - Current newborn screening (NBS) methods, which measure citrulline levels, only catch some cases of citrin deficiency, prompting researchers to develop a better evaluation system using existing NBS parameters.
  • - By analyzing profiles of amino acids and acylcarnitines from 96 NICCD patients, the researchers identified key thresholds for various compounds that could improve detection of citrin deficiency in newborns, suggesting that a scoring
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Purpose: Duchenne muscular dystrophy (DMD) is an inherited muscular disease characterized by progressive and fatal muscle weakness. Electrocardiographic (ECG) abnormalities, including abnormal R wave amplitudes are frequently observed in DMD. However, clinical implications of abnormal R wave amplitudes remain unclear.

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Spinal muscular atrophy (SMA) is a common devastating neuromuscular disorder, usually involving homozygous deletion of the gene. Newly developed drugs can improve the motor functions of infants with SMA when treated in the early stage. To ensure early diagnosis, newborn screening for SMA (SMA-NBS) via PCR-based genetic testing with dried blood spots (DBSs) has been spreading throughout Japan.

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Article Synopsis
  • Multiple acyl-CoA dehydrogenase deficiency (MADD) is an inherited metabolic disorder linked to mutations in specific genes (ETFA, ETFB, ETFDH) and has symptoms that can be confused with riboflavin metabolism disorders.
  • A study of 37 Japanese patients revealed that most MADD cases were due to ETFDH deficiency, with a high mortality rate—15 out of 15 neonatal patients died by age two, and 5 out of 22 later-onset patients died by age three.
  • The study highlighted the p.Y507D genetic variant as a common and dangerous mutation, which is associated with severe outcomes, indicating that many affected patients in Japan do not respond well to riboflavin
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Very long-chain acyl-coenzyme A dehydrogenase deficiency (VLCADD, OMIM 201475) is a congenital fatty acid oxidation disorder. Individuals with VLCADD should avoid catabolic states, including strenuous exercise and long-term fasting; however, such conditions are required when undergoing surgery. The perioperative management of VLCADD in infants has rarely been reported and details regarding the transition of serum biomarkers reflecting catabolic status have not been disclosed.

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Background: Duchenne muscular dystrophy (DMD) is a fatal progressive muscle-wasting disease caused by mutations in the DMD gene. Dilated cardiomyopathy is the leading cause of death in DMD; therefore, further understanding of this complication is essential to reduce morbidity and mortality.

Methods: A common null variant (R577X) in the ACTN3 gene, which encodes α-actinin-3, has been studied in association with muscle function in healthy individuals; however it has not yet been examined in relationship to the cardiac phenotype in DMD.

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Very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency, a condition in which the body is unable to break down long-chain fatty acids properly, is the most common fatty acid oxidation disorder in Japan. Tandem mass spectrometry has been used in newborn screening (NBS), allowing the detection of patients with VLCAD deficiency even before symptoms manifest. However, tandem mass spectrometry has a high false positive rate.

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In Japan, carnitine palmitoyltransferase II (CPTII) deficiency has been included as one of the primary target diseases in the expanded newborn mass screening program since 2018. However, many cases of the severe infantile hepatocardiomuscular form of CPTII deficiency showed severe neurodevelopmental delay or sudden death, which indicated that management of CPTII deficiency in the acute phase remains to be studied in detail. Herein, we discuss two cases diagnosed by newborn mass screening.

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Background: Mechanical insufflation-exsufflation (MI-E) is necessary for noninvasive management of respiratory clearance in patients with neuromuscular disorders (NMDs). Its utility has been proven, and the technique is recommended in a number of international guidelines for the management of patients with NMDs. However, the clearance of thick secretions adhering to the tracheobronchial walls could be problematic when these patients suffer from respiratory tract infections.

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Purpose: Hypoglycemia is a common and life-threatening complication in type 1 diabetes mellitus (T1DM) patients. Current guidelines recommend glucagon for treating hypoglycemia in out-of-hospital settings; however, glucagon is reportedly underused in such patients. We conducted a doctor-oriented, questionnaire-based survey of pediatricians and physicians to determine the glucagon prescription rate and identify the reason(s) for its underuse in T1DM patients.

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Germline intragenic mutations in the GNAS locus result in pseudohypoparathyroidism type 1a (PHP1a) and related conditions. Nearly half of the previously reported GNAS intragenic mutations were structural variants, including 3 tandem duplications of 12-25 bp. However, the precise mutation spectrum and the genomic basis of GNAS structural variants remain to be clarified.

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Background: Glutaryl carnitine (C5DC) in dried blood spots is used as a biomarker for glutaric aciduria type 1 (GA-1) screening. C5DC, however, is the only screening marker for this condition, and various pathological conditions may interfere with C5DC metabolism. Recently, C5DC elevation has been reported in cases of renal insufficiency.

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Article Synopsis
  • CPT II deficiency is a common mitochondrial fatty acid oxidation disorder that often goes undetected in newborn screenings due to unreliable diagnostic indices.
  • In a case involving a 7-month-old boy, researchers successfully diagnosed the condition by analyzing a dried blood specimen using new indices, leading to the identification of multiple affected newborns.
  • Genetic analysis revealed a variety of alleles linked to the disease, with one variant (c.1148T>A) being the most common among the studied families.
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Carnitine palmitoyltransferase II (CPT-2) deficiency, an autosomal recessive disorder of fatty acid oxidation, can be detected by newborn screening using tandem mass spectrometry (TMS). Our case was a boy born at 38 weeks and 6 days of gestation via normal vaginal delivery; his elder sister was affected with CPT-2 deficiency. Acylcarnitine (AC) was analyzed in both dried blood spots (DBS) and serum 2 h after birth to determine whether the boy was also affected.

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Mitochondrial trifunctional protein (TFP) deficiency is an inherited metabolic disorder of mitochondrial fatty-acid oxidation. Isolated long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency is often reported in Caucasian countries due to a common mutation. However, the molecular and clinical basis of complete TFP deficiency has not been extensively reported.

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Introduction: We evaluated the effects of bezafibrate (BEZ) on β-oxidation in fibroblasts obtained from patients with glutaric acidemia type II (GA2) of various clinical severities using an in vitro probe (IVP) assay.

Methods: Cultured fibroblasts from 12 patients with GA2, including cases of the neonatal-onset type both with and without congenital anomalies (the prenatal- and neonatal-onset forms, respectively), the infantile-onset, and the myopathic forms, were studied. The IVP assay was performed by measuring acylcarnitines (ACs) in the cell culture medium of fibroblasts incubated with palmitic acid for 96h in the presence of 0-800μM BEZ using tandem mass spectrometry.

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Mitochondrial trifunctional protein (TFP) is a multienzyme complex that catalyzes the last three steps of the β-oxidation cycle of long-chain fatty acids. In the prenatal diagnosis of TFP deficiency, acylcarnitine (AC) analysis has been considered difficult because of limited excretion of long-chain ACs into the fetal urine and hence into the amniotic fluid. Here, we report our experience with prenatally diagnosing TFP deficiency using AC analysis of amniotic fluid.

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Background: Sivelestat sodium (sivelestat), a neutrophil elastase inhibitor, is used to treat acute respiratory distress syndrome (ARDS). We report two cases that developed elevated C5-acylcarnitine (C5-AC) levels following treatment with sivelestat. Case 1 was a 14-day-old female infant born at 25 weeks and 1 day of gestation who was treated with sivelestat for the prophylaxis of Wilson-Mikity syndrome soon after birth.

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