Clinical Characteristics of Patients With Becker Muscular Dystrophy Having Pathogenic Microvariants or Duplications.

Background And Objectives: Becker muscular dystrophy (BMD) is an allelic disorder of Duchenne muscular dystrophy (DMD) in which pathogenic variants in cause progressive worsening of motor dysfunction, muscle weakness and atrophy, and death due to respiratory and cardiac failure. BMD often has in-frame deletions that preserve the amino acid reading frame, but there are some cases with microvariants or duplications. In recent years, the importance of therapeutic development and care for BMD has been emphasized.

Cyproheptadine Treatment in Children and Adolescents with Migraine: A Retrospective Study in Japan.

Objective: Evidence on prophylactic drugs for pediatric migraine is limited, especially when comorbid conditions contribute to treatment resistance. This study evaluated the efficacy of cyproheptadine in children with migraine and explored the impact of comorbid neurodevelopmental disorders and orthostatic intolerance (OI).

Methods: We retrospectively analyzed pediatric migraine patients treated with cyproheptadine.

Urinary titin reflects the severity of walking ability, muscle strength, and muscle and cardiac damage in patients with Becker muscular dystrophy.

Background: Becker muscular dystrophy (BMD) is a dystrophinopathy caused by a pathological variant of the DMD gene. Urinary titin, a degradation product of the giant protein titin present in muscle sarcomeres, has been used as a biomarker to reflect muscle degradation in Duchenne muscular dystrophy, a more severe dystrophinopathy. However, the clinical significance of urinary titin levels in BMD remains unclear.

Questionnaire survey on severe hypoglycemia in pediatric patients with diabetes-English version.

A questionnaire survey on severe hypoglycemia (SH) in pediatric patients with diabetes was distributed to pediatric diabetes specialists and members of the Committee of Pediatric Diabetes in the Japan Diabetes Society. Thirty-three hospitals answered the questionnaire survey, and 17 had treated the eligible patients under 15 years of age, including 506 with type 1 diabetes and 302 with type 2 diabetes. Of these patients, 25 experienced SH from January 2017 to December 2021.

Clinical outcomes of gradual reduction of late-detected developmental dysplasia of the hip using ultrasound-guided flexion abduction continuous traction: a midterm follow up study.

Reducing the avascular necrosis (AVN) rate in infants treated for developmental dysplasia of the hip (DDH) is important. We previously reported the clinical outcomes of gradual reduction via ultrasound-guided flexion abduction continuous traction (FACT-R), which achieved a 99% reduction with an AVN rate of 1.0% in infants <12 months.

Exploring unsolved cases of lissencephaly spectrum: integrating exome and genome sequencing for higher diagnostic yield.

Lissencephaly is a rare brain malformation characterized by abnormal neuronal migration during cortical development. In this study, we performed a comprehensive genetic analysis using next-generation sequencing in 12 unsolved Japanese lissencephaly patients, in whom PAFAH1B1, DCX, TUBA1A, and ARX variants were excluded using the Sanger method. Exome sequencing (ES) was conducted on these 12 patients, identifying pathogenic variants in CEP85L, DYNC1H1, LAMC3, and DCX in four patients.

X-Linked Myotubular Myopathy and Mitochondrial Function in Muscle and Liver Samples.

X-linked myotubular myopathy (XLMTM) is a rare congenital myopathy that commonly manifests with liver involvement. In most XLMTM cases, disease-causing variants have been identified in the myotubularin gene () on chromosome Xq28, which encodes myotubularin protein (MTM1). The impairment of mitochondrial respiratory chain (MRC) enzyme activity in muscle has been observed in the XLMTM mouse model.

Use of a long-term continuous glucose monitor for predicting sulfonylurea dose in patients with neonatal diabetes mellitus: a case series.

Neonatal diabetes mellitus (NDM) is a monogenic form of diabetes that presents with uncontrolled hyperglycemia during the first 6 months of life. NDM is a rare disease in which gene variants mainly cause β-cell loss or dysfunction (6q24 duplication, , and ). Although NDM is primarily treated through insulin therapy, it is highly challenging to manage blood glucose levels using insulin therapy during infancy.

Morphological Changes and Concentricity of the Hip Joint During Gradual Reduction in Infants with Late-Detected Developmental Dysplasia of the Hip: A Retrospective Study.

Background: The relationship between hip morphological changes and joint concentricity in infants with late-detected developmental dysplasia of the hip (DDH) treated with gradual reduction remains unclear. Therefore, we investigated hip morphological changes and concentricity in infants with late-detected unilateral DDH using magnetic resonance imaging (MRI) during gradual reduction.

Methods: We enrolled 20 infants aged ≥ 12 months with unilateral DDH.

Swimming was associated with rhinitis and pollinosis in a duration-dependent manner.

Background: Previous studies have reported conflicting results regarding the effects of childhood swimming on respiratory allergic symptoms. We investigated the relationship between swimming and respiratory allergic symptoms in schoolchildren.

Methods: A questionnaire regarding participation in sports club activities and respiratory allergic symptoms in schoolchildren was distributed to the parents of all 6853 public school students (aged 6-14 years) in Omihachiman City, Shiga, Japan.

[Severe consciousness disturbance after cord blood transplantation for relapsed T lymphoblastic lymphoma].

T-lymphoblastic leukemia/lymphoma (T-ALL/LBL) has a poor prognosis. Nelarabine has recently shown relatively good results in patients with relapsed or refractory T-ALL/LBL, but requires careful monitoring for neurological complications. A 50-year-old man with early recurrence of T-LBL after allogenic peripheral blood stem cell transplantation received nelarabine monotherapy and achieved complete remission after 1 cycle.

Comparison of the Sensory Profile Among Autistic Individuals and Individuals with Williams Syndrome.

Purpose: With the current study, we aimed to reveal the similarities and differences in sensory profiles between Williams syndrome (WS) and autism spectrum disorder.

Methods: Using the sensory profile questionnaire completed by the caregivers, we analyzed the WS (n = 60, 3.4-19.

Exploration of urine metabolic biomarkers for new-onset, untreated pediatric epilepsy: A gas and liquid chromatography mass spectrometry-based metabolomics study.

Objective: The discovery of objective indicators for recent epileptic seizures will help confirm the diagnosis of epilepsy and evaluate therapeutic effects. Past studies had shortcomings such as the inclusion of patients under treatment and those with various etiologies that could confound the analysis results significantly. We aimed to minimize such confounding effects and to explore the small molecule biomarkers associated with the recent occurrence of epileptic seizures using urine metabolomics.

Higher Intake of Nutrients with Antioxidant and Anti-Inflammatory Effects among Children with Cow's Milk Allergy According to the Degree of Elimination.

Children with cow's milk allergy (CMA) have lower bone mineral density and shorter height than children without CMA or non-food allergy (FA), and their final height is also affected. Appropriate nutritional guidance for CMA children is therefore needed. The purpose of this study was to conduct a dietary survey of CMA children and to compare their characteristics according to the degree of elimination.

Modification to the placement of the navigation reference frame in posterior corrective fusion of spinal deformity with myelomeningocele: a series of 6 cases.

To show a modified placement of the navigation reference frame in posterior corrective fusion of spinal deformity with myelomeningocele. This was a retrospective, single-surgeon case series, and IRB-approved study. Six consecutive patients (one male and five females) who were diagnosed with spinal deformity with myelomeningocele underwent posterior corrective fusion surgery from the upper thoracic spine to the pelvis with preoperative computed tomography navigation (pCTN).

Effectiveness and safety of morphine administration for refractory dyspnoea among hospitalised patients with advanced heart failure: the Morphine-HF study.

Objectives: Morphine is effective in alleviating dyspnoea in patients with cancer. We aimed to investigate the effectiveness and safety of morphine administration for refractory dyspnoea in patients with advanced heart failure (HF).

Methods: We conducted a multicentre, prospective, observational study of hospitalised patients with advanced HF in whom morphine was administered for refractory dyspnoea.

No short-term clinical improvement and mean 6° of thoracic kyphosis correction using limited-level Ponte osteotomy near T7 for Lenke type 1 and 2 adolescent idiopathic scoliosis: a preliminary study.

This study was a retrospective single surgeon case series approved by institutional review board and showed the efficacy of limited Ponte osteotomy at T6/7, 7/8 and 8/9 (limited-PO) in the sagittal plane for patients with Lenke type 1 and 2 adolescent idiopathic scoliosis (AIS). A total of 37 consecutive patients [7 males and 30 females; average age 16.0 ± 2.

Characteristic Muscular FDG Uptake Patterns Related to the Transportation Means Used by Patients to Visit the Hospital.

It is well-known that physiological FDG uptake in the skeletal muscles is affected by serum insulin levels and the extent to which the muscles contract before the examination. Patients are instructed to refrain from strenuous exercise, talking too much, and taking meals at least 4 hours before the administration of the tracer. Even if the patient does not intend to exercise, muscular accumulation related to specific behaviors can still be visualized in the images.

Inhibition of VEGF receptors induces pituitary apoplexy: An experimental study in mice.

Anti-vascular endothelial growth factor (VEGF) therapy has been developed for the treatment of a variety of cancers. Although this therapy may be a promising alternative treatment for refractory pituitary adenomas and pituitary carcinomas, the effects of anti-VEGF agents on the pituitary gland are not yet well understood. Here, we found that mice administered with OSI-930, an inhibitor of receptor tyrosine kinases including VEGF receptor 1 and 2, frequently exhibited hemorrhage in the pituitary gland.