Generalized,severe epidermolysis bullosa simplex caused by a Keratin 5 p.E477K mutation

Epidermolysis bullosa simplex (EBS) is a skin fragility disorder resulting from mutations of structural proteins in the epidermis. We provide a brief report of long‐term survival and reproduction in a mother with EBS due to keratin 5 (KRT5) c.1429G > A (p.E477K) mutation, which causes a particularly severe form of the disease.     

伴随结节性硬化的浸润性视网膜星形细胞瘤4例

众所周知，视网膜星形细胞瘤常伴有结节性硬化的表现。视网膜星形细胞瘤一般是发生在视网膜神经纤维层的无蒂轻度隆起性病变。临床上可以是单侧发生，也可以是双侧发生。可以单个病灶，也可以多个病灶。可以是透明的，也可以是不透明的。可以有钙化，也可以没有钙化。视网膜星形细胞瘤相对固定的伴有眼内结节性硬化，很少表现为浸润性增长。在很少的情况下视网膜星形细胞瘤可以表现出浸润性增长，造成局部严重并发症。     

Comparison of two treatment schedules for combined timolol and dipivefrin therapy

In a prospective, randomized, single-masked, cross-over study, 18 patients with primary open-angle glaucoma were treated for one month with each of the following regimens: timolol 0.5% twice daily, timolol 0.5% plus dipivefrin 0.1% twice daily given ten minutes apart, and timolol 0.5% plus dipivefrin 0.1% given twice daily four hours apart. An eight-hour intraocular pressure curve was obtained before treatment and at the end of each monthly regimen. When added to timolol therapy, dipivefrin produced a small but statistically significant additional mean decrease in intraocular pressure. The difference in intraocular pressure reduction between the two regimens for combined timolol and dipivefrin therapy was not statistically significant.     

Brain morphology in first-episode schizophrenic-like psychotic patients: a quantitative magnetic resonance imaging study

Brain morphology was examined using magnetic resonance imaging in 30 first-episode patients with a schizophreniclike psychosis, 15 chronic schizophrenics, and 20 neurological controls. Statistical analyses of computer-generated measurements of regions of interest were controlled for gender, age, social class, and total brain volume. Lateral ventricular size was increased in both first-episode and chronic schizophrenic patients, with greater significance on the left than on the right side. Only the chronic patients, however, had reduced temporal lobe size, which also was greater on the left side. No major correlations of regional brain morphological measurements with cognitive functioning were found, although some measurements of verbal memory were correlated with parahippocampal size. This is a report of a preliminary study that suggests that some morphological brain changes may be present at the time of first treatment for a psychotic illness, whereas others may occur later in the course of illness. Future prospective studies may determine the clinical significance of these changes and whether they progress with the development of illness chronicity.     

Neonatal Graves'' disease.

A newborn boy was noted by his mother to have a prominent left eye at birth, but an eye examination was delayed until age 7 months, at which time his ophthalmologist diagnosed exophthalmos. Computed tomography was interpreted as showing mild, diffuse, optic nerve thickening bilaterally suggestive of optic nerve gliomas. Subsequent examination in our clinic revealed pseudoproptosis secondary to retraction of the left upper eyelid. Magnetic resonance imaging demonstrated normal orbital structures. The mother was noted to be clinically hyperthyroid, and abnormal thyroid function tests confirmed the diagnosis. Although the infant was euthyroid, neonatal Graves' ophthalmopathy was diagnosed. He was managed by close observation while his mother was treated for her hyperthyroidism.     

Management of metabolic syndrome: aspirin.

Cardiovascular disease (CVD), which includes myocardial infarction(MI), stroke, and peripheral vascular disease, remains the leading cause of death in the United States and in most developed countries. In the United States today, 25% of patients have metabolic syndrome-including those who have had a prior occlusive vascular disease event, those who are having an acute MI or ischemic stroke, and finally, the largest segment of the population,namely those who have not yet experienced a clinical CVD, but whose risks are substantial (10-year risk 10%). This article reviews the totality of evidence for aspirin in the treatment and prevention of CVD and emphasizes its importance as adjunctive therapy for patients with metabolic syndrome.