Neurally mediated syncope and arrhythmias: a study of syncopal patients using the head-up tilt test

Understanding the causes of syncope in patients with arrhythmia is important in determining the therapeutic interventions. Neurally mediated syncope (NMS) was evaluated in 55 patients with various arrhythmias. The head-up tilt test with or without isoproterenol infusion induced NMS in 41 (74%) patients. When these patients was categorized into 3 types, depending on the development of syncope, vasodilatation was significant in a majority of patients. In 46% of patients with tachyarrythmias, NMS was accompanied by an increase in extrasystole. It was concluded that the evaluation of vasodilatation is important for the preventive strategy of NMS in patients with arrhythmias and that NMS may induce arrhythmias.     

Clinical phenotypes of spinal muscular atrophy patients with hybrid SMN gene

BackgroundSpinal muscular atrophy (SMA) is a neuromuscular disease caused by homozygous deletion of SMN1 exons 7 and 8. However, exon 8 is retained in some cases, where SMN2 exon 7 recombines with SMN1 exon 8, forming a hybrid SMN gene. It remains unknown how the hybrid SMN gene contribute to the SMA phenotype.MethodWe analyzed 515 patients with clinical suspicion for SMA. SMN1 exons 7 and 8 deletion was detected by PCR followed by enzyme digestion. Hybrid SMN genes were further analyzed by nucleotide sequencing. SMN2 copy number was determined by real-time PCR.ResultsSMN1 exon 7 was deleted in 228 out of 515 patients, and SMN1 exon 8 was also deleted in 204 out of the 228 patients. The remaining 24 patients were judged to carry a hybrid SMN gene. In the patients with SMN1 exon 7 deletion, the frequency of the severe phenotype was significantly lower in the patients with hybrid SMN gene than in the patients without hybrid SMN gene. However, as for the distribution of SMN2 exon 7 copy number among the clinical phenotypes, there was no significant difference between both groups of SMA patients with or without hybrid SMN gene.ConclusionHybrid SMN genes are not rare in Japanese SMA patients, and it appears to be associated with a less severe phenotype. The phenotype of patients with hybrid SMN gene was determined by the copy number of SMN2 exon 7, as similarly for the patients without hybrid SMN gene.     

Arthroscopic lunate morphology and wrist disorders

Purpose

The lunate is classified into two types, one with a single distal facet and the other with two distal facets. The effect of lunate type on the incidence of wrist disease and trauma remains unclear. The purpose of this study is to evaluate a potential association between lunate morphology and wrist disorders.

Methods

We retrospectively reviewed the cases of 637 patients who had undergone wrist arthroscopy for wrist disorders. Patient charts and arthroscopic video images were reviewed retrospectively. We defined lunate type based on the Viegas classifications, according to its distal facet from a midcarpal arthroscopic image. Patient wrist disorders were divided into four groups: fractures and dislocations, Kienböck’s disease, ulnar wrist pain, and degenerative disease.

Results

A Viegas type 1 lunate was observed in 349 wrists and a type 2 lunate in 288 wrists. Incidence of the type 2 lunate was different between the groups and was significantly lower for the Kienböck’s disease and ulnar wrist pain groups than for the trauma and degenerative groups.

Conclusions

The present study revealed a variable incidence of lunate type in wrist disorders. The proportion of type 2 lunates was lower in Kienböck’s disease and ulnar wrist pain.     

Enhanced bone formation of calvarial bone defects by low-intensity pulsed ultrasound and recombinant human bone morphogenetic protein-9: a preliminary experimental study in rats

Clinical Oral Investigations - The aim of this study was to evaluate the combined effects of recombinant human bone morphogenetic protein - 9 (rhBMP-9) loaded onto absorbable collagen...     

Acute decrease in the stiffness of resting muscle belly due to static stretching

The purpose of the study was to examine the acute effect of static stretching exercise on the resting stiffness of gastrocnemius muscle belly. Ten healthy young adults performed standing wall stretching in dorsiflexion for 1 min at a time and repeated five times. Before and after stretching, the shear modulus was measured in medial and lateral heads of the resting gastrocnemius muscle with ultrasound shear‐wave elastography. After the stretching, dorsiflexion range of motion (ROM) of the ankle joint increased (P < 0.01) by 3.9° and returned in 20 min. Immediately after stretching, shear modulus decreased (P < 0.01) by 14%, compared with before stretching across muscle heads. The decrease in shear modulus returned in 20 min after stretching. In the comparison group of 10 additional subjects, the standing intervention without stretching had no influence on these measures. There was a negative correlation between dorsiflexion ROM and shear modulus in either head before and after stretching. The results demonstrate the transient decreases in the stiffness of the resting gastrocnemius muscle belly and indicate that joint flexibility is greater in individuals with lower resting stiffness of the muscle belly.     

Prognostic factors and risk classifications for patients with metastatic renal cell carcinoma

The introduction of molecular‐targeted therapy has made dramatical changes to treatment for metastatic renal cell carcinoma. Currently, there are four vascular endothelial growth factor receptor‐tyrosine kinase inhibitors and two mammalian target of rapamycin inhibitors in Japan. For the appropriate clinical use of these molecular‐targeted drugs, the identification of prognostic and/or predictive factors in patients who received these drugs is required. Although molecular biological and genetic factors that determine the prognosis of patients with metastatic renal cell carcinoma have been reported, most of these factors are problematic in that the number of patients analyzed was small. In contrast, clinicopathological prognostic factors, including the practice of cytoreductive nephrectomy, pathological findings, metastatic sites and metastasectomy, and abnormal inflammatory response, have been identified by analyzing a relatively large number of patients. Several prognostic classification models that were developed by combining these clinicopathological factors are widely used in not only clinical trials, but also routine clinical practice. However, the quality of these prognostic models is considered to be insufficient regarding prognostic prediction of metastatic renal cell carcinoma patients and, thus, requires further improvements. Recently, basic and clinical studies have been extensively carried out for the identification of promising informative markers and for understanding molecular mechanisms of resistance to molecular‐targeted drugs in metastatic renal cell carcinoma patients. The present review considers ongoing translational research efforts on clinicopathological, molecular biological, and genetic prognostic and/or predictive factors for metastatic renal cell carcinoma patients in the era of molecular‐targeted therapy, and discusses the clinical implications of these findings.     

Nuclear cyclin D1 overexpression is a critical event associated with cell proliferation and invasive growth in gallbladder carcinogenesis

Cyclin D1 overexpression is remarkably frequent in several human carcinomas and is believed to be a critical event in oncogenesis. We examined cyclin D1 expression, p53 expression, and the Ki-67 labeling index by immunostaining in human gallbladder mucosa in conditions varying from normal to malignant tissue. We also examined K-ras codon 12 mutations in these tissues with a two-step polymerase chain reaction. Nuclear cyclin D1 overexpression was observed in 48% of carcinomas occurring independently of adenoma, but not in adenomas, carcinomas arising in adenomas, or nonneoplastic lesions. Cytoplasmic cyclin D1 overexpression was observed in about 15% of abnormal specimens, irrespective of the type of epithelial abnormality. Carcinomas showing nuclear cyclin D1 overexpression had significantly higher Ki-67 labeling indexes than those with no overexpression. Moderately to poorly differentiated adenocarcinomas showed a higher incidence of nuclear cyclin D1 overexpression than papillary to well differentiated carcinomas. Specimens with cyclin D1 overexpression showed a high incidence of lymph permeation, venous permeation, and lymph node metastasis. We conclude that nuclear cyclin D1 overexpression is a critical event importantly associated with cell proliferation and invasive growth in gallbladder carcinogenesis, and that cyclin D1 immunostaining may become a useful marker for evaluating gallbladder carcinomas. Received: March 9, 1999 / Accepted: July 23, 1999