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Biomedical subjects

B Glaser

Publications and source records attributed to B Glaser.

136 records · Page 8Linked to original sources

Monilethrix: mutational hotspot in the helix termination motif of the human hair basic keratin 6.

Monilethrix is a rare autosomal dominant disease characterized by hair fragility and follicular hyperkeratosis. Mutations in the human basic hair keratins hHb1 and hHb6 have recently been reported in this disease. Twelve families and sporadic cases were clinically diagnosed with monilethrix and were available for the study. The gene segment encoding the helix termination motif region of keratin hHb6 was PCR amplified and sequenced. Mutations were recognized in 6 families. Four families had the previously described mutations, Glu413Lys and Glu413Asp. In 2 unrelated families, a novel mutation, Glu402Lys, was identified. No clear association was found between the severity of the phenotype and the mutation carried. Furthermore, heterozygous members of the same family had variable degrees of hair and skin involvement. Homozygous patients identified in one large consanguineous family were more severely affected. Other genetic or environmental factors may also play a role in monilethrix.

Amino Acid Motifs↗

Inhibitors of neovascularization.

The use of neovascular inhibitors in the treatment of CNV will no doubt have a profound impact in the future. However, complex issues surround the use of these agents. Careful clinical trials will be necessary to determine the optimal parameters for their use. Furthermore, it must be determined whether these inhibitors will be most efficacious as primary agents or as agents used to augment the efficacy of photoreactive laser treatment or feeder vessel treatment.

Angiogenesis Inhibitors↗

A new instrument for continuous recording of the evoked compound electromyogram in the clinical setting.

To study neuromuscular transmission, observation of the evoked compound electromyogram (EMG) has important advantages over observation of the evoked mechanical muscle contraction. Technically, however, recording of the evoked compound EMG, especially in continuous study of several hours duration, has been difficult. Investigators have employed various complicated systems, including tape recording, photorecording, and photographing for such purposes. The authors have applied modern computer technology to construction of an EMG analyzer which enables handling the evoked EMG even more easily than the evoked mechanical contraction. The principle involves digital dissection, storage with memory, readout with time expansion, and analog reconstruction of the compound EMG. The signal can be recorded with ease by use of any suitable hot-stylus or ink-writing oscillographic recorder. Both the waveform and the amplitutde of the EMG can be on-line recorded. The cost compares favorably with comparable devices for similar studies.

Electromyography↗