Two Japanese LGMDR25 patients with a biallelic recurrent nonsense variant of BVES.

We report two Japanese patients with autosomal recessive limb-girdle muscular dystrophy type R25 (LGMDR25), harboring a novel recurrent homozygous nonsense variant of BVES. Muscle symptoms manifested from childhood to adulthood, initiated in the proximal or distal muscles of the lower limbs, and displayed asymmetric muscle involvement. Similar to the patients in previous reports, these patients also lost ambulation in late middle age.

[Intractable Neurological Disease].

Subacute intractable neurological diseases sometimes require patients to make various choices in life without accepting the disease. Therefore, doctors need to be diagnose these diseases early. However, in clinical settings, diagnosis is often sought only from the localized history and symptoms and not the overall picture of the disease.

Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy.

Nemaline myopathy (NM) is a common form of congenital nondystrophic skeletal muscle disease characterized by muscular weakness of proximal dominance, hypotonia, and respiratory insufficiency but typically not cardiac dysfunction. Wide variation in severity has been reported. Intranuclear rod myopathy is a subtype of NM in which rod-like bodies are seen in the nucleus, and it often manifests as a severe phenotype.

Performance evaluation of platelet counting by novel fluorescent dye staining in the XN-series automated hematology analyzers.

Background: Conventional automated hematology analyzers have limitations in platelet measurements such as poor accuracy and precision in the low count range and interference by nonplatelet particles. In order to improve it, the newly developed XN-Series automated hematology analyzers (Sysmex Corporation, Kobe, Japan) have been installed with a new dedicated channel for platelet analysis (PLT-F), which is based on a fluorescence flow cytometry method with uses of a novel fluorescent dye specifically staining platelets. We evaluated the basic performance of this new PLT-F channel.

Clinical and pathological features of B-cell non-Hodgkin lymphomas lacking the surface expression of immunoglobulin light chains.

Background: The flow cytometric analysis of surface immunoglobulin light chains (sIgL) is used as a simple method for evaluating monoclonal B-cell proliferation. However, the sIgL expression, κ or λ, is occasionally undetectable in cases with B-cell non-Hodgkin lymphomas (B-NHL). The purpose of this study was to investigate the clinical and pathological characteristics of these B-NHL cases.

Traumatic axial dislocation of the carpus: a case report of transscaphoid pericapitate transhamate axial dislocation.

Traumatic axial dislocation of the carpus in a 20-year-old man is described. This injury was accompanied by a crushing injury to the hand. The disruption pattern was different from those of previously reported cases.