Economic evaluation of newborn screening for congenital cytomegalovirus infection: A systematic review.

Purpose: This systematic review analyzes economic evaluations of newborn screening for congenital cytomegalovirus (cCMV) infection to identify key factors influencing cost-effectiveness and differences in methodological approaches.

Methods: Following a pre-registered PROSPERO protocol (CRD42023441587), we conducted a comprehensive literature search across multiple databases on July 4, 2024. The review included both full economic evaluations (cost and outcomes) and partial economic evaluations (cost only).

Morphology of the popliteomeniscal fascicles around the popliteal hiatus on three-dimensional images reconstructed from 7 T magnetic resonance imaging: A cadaveric study.

Background: This study aimed to clarify the characteristic features of the anteroinferior and posterosuperior popliteomeniscal fascicles (aiPMF and psPMF, respectively) and popliteal hiatus using three-dimensional (3D) reconstructions of 7 T magnetic resonance imaging (MRI) arthrography.

Methods: Six knees from human cadavers fixed using the Thiel embalming method were examined using 7 T MRI arthrography. 3D Images of the structures around the popliteal hiatus were reconstructed.

Health-related quality of life and caregiver burden of pediatric patients with inborn errors of metabolism in Japan using EQ-5D-Y, PedsQL, and J-ZBI.

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).

Comparative analysis of GMO regulatory requirements for AAV vectors in the EU and Japan focusing on the shedding data and containment measures.

Introduction: Recombinant viral-based gene therapy products, such as those incorporating adeno-associated viruses (AAVs), fall under the category of genetically modified organisms (GMOs). The European Union (EU) countries and Japan must obtain environmental risk assessment (ERA) approval for the use of GMOs before starting any clinical trials. It has been reported that the development of GMO-containing products in these two regions encounters several regulatory obstacles due to the longer regulatory procedures and document preparation for ERA.

Using the C14:1/Medium-Chain Acylcarnitine Ratio Instead of C14:1 to Reduce False-Positive Results for Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency in Newborn Screening in Japan.

Very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a long-chain fatty acid oxidation disorder that manifests as either a severe phenotype associated with cardiomyopathy, a hypoglycemic phenotype, or a myopathic phenotype. As the hypoglycemic phenotype can cause sudden infant death, VLCAD deficiency is included in newborn screening (NBS) panels in many countries. The tetradecenoylcarnitine (C14:1) level in dried blood specimens is commonly used as a primary marker for VLCAD deficiency in NBS panels.

Newborn Screening with (C16 + C18:1)/C2 and C14/C3 for Carnitine Palmitoyltransferase II Deficiency throughout Japan Has Revealed C12/C0 as an Index of Higher Sensitivity and Specificity.

Carnitine palmitoyltransferase (CPT) II deficiency is a long-chain fatty acid oxidation disorder. It manifests as (1) a lethal neonatal form, (2) a hypoglycemic form, or (3) a myopathic form. The second form can cause sudden infant death and is more common among Japanese people than in other ethnic groups.

[A case of very long chain acyl-CoA dehydrogenase deficiency diagnosed due to a trigger of hyperemesis gravidarum during pregnancy].

A 25-year-old Japanese woman with a history of repeated episodes of rhabdomyolysis since the age of 12 presented with rhabdomyolysis caused by hyperemesis gravidarum. Blood tests showed an elevated serum CK level (11,755 ‍IU/l; normal: 30-180 ‍IU/l). Carnitine fractionation analysis revealed low levels of total carnitine (18.

Morphology of the proximal tibiofibular joint and ligaments using three-dimensional computed tomography: A cadaveric study.

Background: The aim of our study was to clarify the morphology of the proximal tibiofibular joint (PTFJ), insertion sites of the proximal tibiofibular ligaments (PTFLs), and related osseous landmarks on three-dimensional (3D) computed tomography (CT) images.

Methods: Cadaveric knees were evaluated by dissection and 3D CT imaging. The anterior PTFL (A-PTFL) and posterior PTFL (P-PTFL) were isolated, and their tibial and fibular insertion sites were identified.

Development of a Model for Quantitative Assessment of Newborn Screening in Japan Using the Analytic Hierarchy Process.

Whether or not conditions should be included in publicly funded newborn screening (NBS) programs should be discussed according to objective and transparent criteria. Certain criteria have been developed for the introduction of NBS programs in the context of individual countries; however, there are no standard selection criteria for NBS programs in Japan. This study aimed to develop a quantitative scoring model to assess newborn screening that incorporates the views of a variety of stakeholders in Japan.

Morphology of the quadriceps tendon and its patella insertion site on three-dimensional computed tomography and magnetic resonance imaging: A cadaveric study.

Aim: This study was conducted to clarify the morphological properties of the quadriceps tendon (QT) and its patella insertion site using three-dimensional computed tomography and magnetic resonance imaging.

Methods: Twenty-one right knees from human cadavers were evaluated using three-dimensional computed tomography and magnetic resonance imaging. The morphologies of the QT and its patella insertion site were evaluated, along with intra-tendon differences in length, width, and thickness.

Ca Dependent Formation/Collapse of Cylindrical Ca-ATPase Crystals in Scallop Sarcoplasmic Reticulum (SR) Vesicles: A Possible Dynamic Role of SR in Regulation of Muscle Contraction.

[Ca]-dependent crystallization of the Ca-ATPase molecules in sarcoplasmic reticulum (SR) vesicles isolated from scallop striated muscle elongated the vesicles in the absence of ATP, and ATP stabilized the crystals. Here, to determine the [Ca]-dependence of vesicle elongation in the presence of ATP, SR vesicles in various [Ca] environments were imaged using negative stain electron microscopy. The images obtained revealed the following phenomena.

Balance of the prooxidant and antioxidant system is associated with mortality in critically ill patients.

It is well known that oxidative stress causes certain diseases and organ damage. However, roles of oxidative stress in the acute phase of critical patients remain to be elucidated. This study aimed to investigate the balance of oxidative and antioxidative system and to clarify the association between oxidative stress and mortality in critically ill patients.

Transport and Golgi organization 2 deficiency with a prominent elevation of C14:1 during a metabolic crisis: A case report.

Mutations in transport and Golgi organization 2 homolog () have recently been described as a cause of an autosomal recessive syndrome characterized by episodes of metabolic crisis associated with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration. Herein, we report a case of a one-and-a-half-year-old Japanese girl, born to nonconsanguineous parents, who presented with metabolic crisis characterized by hypoglycemia with hypoketonemia, rhabdomyolysis, lactic acidosis, and prolonged corrected QT interval (QTc) at the age of 6 months. Acylcarnitine analysis during the episode of crisis showed prominent elevation of C14:1, suggesting very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency.

Impact of genetically modified organism requirements on gene therapy development in the EU, Japan, and the US.

Advanced therapies are emerging as an important class of medicinal products; among these, gene therapies are advancing at an exceptional rate. However, one of the major challenges for gene therapies relates to the additional regulatory requirements for genetically modified organisms. In this paper, we provide an overview of the regulatory requirements for genetically modified organisms in the European Union, Japan, and the United States.

Impact of expedited programs in the United States, as foreign regulatory factors, on clinical development time in Japan.

What Is Known And Objective: Regulatory authorities in several regions have introduced a number of expedited programs (EPs) to promote the development of innovative drugs for patients in their own countries. The EPs in the United States (US), alone or in combination, have been successful in shortening the clinical development time in the US. We examined whether US-EPs, as well as other related factors, have an impact on the clinical development time in Japan to obtain new insights for more efficient drug development.

The frequencies of very long-chain acyl-CoA dehydrogenase deficiency genetic variants in Japan have changed since the implementation of expanded newborn screening.

Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency has been a target of expanded newborn screening (ENBS) using tandem mass spectrometry in Japan. Since the implementation of ENBS, a number of novel ACADVL variants responsible for VLCAD deficiency have been identified. In this study, genotypic differences in Japanese patients with VLCAD deficiency were investigated before and after ENBS.

Elongation and Contraction of Scallop Sarcoplasmic Reticulum (SR): ATP Stabilizes Ca-ATPase Crystalline Array Elongation of SR Vesicles.

The Ca-ATPase is an integral transmembrane Ca pump of the sarcoplasmic reticulum (SR). Crystallization of the cytoplasmic surface ATPase molecules of isolated scallop SR vesicles was studied at various calcium concentrations by negative stain electron microscopy. In the absence of ATP, round SR vesicles displaying an assembly of small crystalline patches of ATPase molecules were observed at 18 µM [Ca].

Severity estimation of very-long-chain acyl-CoA dehydrogenase deficiency via C-fatty acid loading test.

Background: The clinical severity of very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is difficult to predict using conventional diagnostic methods.

Methods: Peripheral blood mononuclear cells obtained from 14 VLCAD deficiency patients and 23 healthy adults were loaded with carbon-13-universally labeled (U-C-) fatty acids. Differences in acylcarnitine ratios between the patients and healthy groups and correlations between acylcarnitine ratios and a newly established clinical severity score (CSS) in the patient group were statistically examined.

The Japanese Clinical Practice Guidelines for Management of Sepsis and Septic Shock 2020 (J-SSCG 2020).

The Japanese Clinical Practice Guidelines for Management of Sepsis and Septic Shock 2020 (J-SSCG 2020), a Japanese-specific set of clinical practice guidelines for sepsis and septic shock created as revised from J-SSCG 2016 jointly by the Japanese Society of Intensive Care Medicine and the Japanese Association for Acute Medicine, was first released in September 2020 and published in February 2021. An English-language version of these guidelines was created based on the contents of the original Japanese-language version. The purpose of this guideline is to assist medical staff in making appropriate decisions to improve the prognosis of patients undergoing treatment for sepsis and septic shock.

Analysis of characteristics required for gait evaluation of patients with knee osteoarthritis using a wireless accelerometer.

Background: Knee osteoarthritis (KOA) is associated with reduced quality of life due to knee pain and gait disturbance. However, the evaluation of KOA is mainly based on images and patient-reported outcome measures (PROMs), which are said to be insufficient for functional evaluation. Recently, gait analysis using an accelerometer has been used for functional evaluation of KOA patients.

Pilot Study on Neonatal Screening for Methylmalonic Acidemia Caused by Defects in the Adenosylcobalamin Synthesis Pathway and Homocystinuria Caused by Defects in Homocysteine Remethylation.

Neonatal screening (NS) for methylmalonic acidemia uses propionylcarnitine (C3) as a primary index, which is insufficiently sensitive at detecting methylmalonic acidemia caused by defects in the adenosylcobalamin synthesis pathway. Moreover, homocystinuria from cystathionine β-synthase deficiency is screened by detecting hypermethioninemia, but methionine levels decrease in homocystinuria caused by defects in homocysteine remethylation. To establish NS detection of methylmalonic acidemia and homocystinuria of these subtypes, we evaluated the utility of indices (1) C3 ≥ 3.