concanavalin A-binding proteins are relatively unaffected by the changes in glucose concentration. At this threshold level of glucose the glucose-regulated proteins of Shui et al. (1977) are not apparent. The reappearance of the 100000-mol.wt. glycoprotein can be correlated with the reappearance of the 95 000-mol.wt. glucosamine-labelled glycoprotein (Fig. 2) and there seems, therefore, good re...

PURPOSE Although several reports of supernumerary orbital muscles related to the levator palpebrae superioris have been published, no case has been associated with congenital eyelid retraction. This report describes an apparent causal relationship between an accessory levator muscle slip and congenital eyelid retraction. METHODS Case report and literature review. RESULTS Release of the anom...

Congenital hepatic fibrosis is a rare cause of portal hypertension and esophageal varices in children. We report cases of siblings with biopsy proven congenital hepatic fibrosis and with atypical retinitis pigmentosa. They presented with repeated episodes of jaundice along with progressive decrease of vision in night. They had hepatosplenomegaly and portal hypertension with esophageal varices. ...

Airway management for patients with craniofacial disorders poses many challenges. The anaesthesiologist must be familiar with the normal bony and soft-tissue anatomy in the airway and how anatomy is altered by various congenital disorders. Specific areas to assess include the oral cavity, anterior mandibular space, maxilla, temporomandibular joint and vertebral column. Congenital conditions tha...

Because background seroepidemiological data are required before nationwide vaccination against hepatitis B virus (HBV) is attempted, the rate of exposure to HBV was investigated in two high-risk Saudi groups: patients on haemodialysis and patients with congenital bleeding disorders. Although the HBsAg carrier rate was higher in patients with congenital bleeding disorders (11.1%) than in patient...

An 18 year old woman with congenital hemihypertrophy of her left side, presented with the rapid onset of virilism, hypertension and a cushingoid appearance. A computed tomographic examination revealed adrenal and hepatic masses. Adrenocortical carcinoma was confirmed by surgical pathology. Hemihypertrophy is linked to a variety of benign and malignant disorders that usually appear during childh...

Male infertility is an urgent medical and demographic threat worldwide, in particular industrial regions suffering from environmental pollution. Here we performed analysis of epidemiological studies meta-analyses prevalence, causes, risk factors male reproductive disorders. Among the well-defined determining are hormonal imbalance, sexually transmitted infections, other inflammatory diseases, h...

Hemophilia and von Willebrand disease together account for the large majority of congenital bleeding disorders. Contemporary management, including development of safer clotting factor concentrates and increased emphasis on long-term follow-up in comprehensive hemophilia centers, has improved both quality of life and longevity for patients with congenital bleeding disorders. In addition to facil...

Neuromuscular junction disorders represent a wide group of neurological diseases characterized by weakness, fatigability and variable degrees of appendicular, ocular and bulbar musculature involvement. Its main group of disorders includes autoimmune conditions, such as autoimmune acquired myasthenia gravis and Lambert-Eaton syndrome. However, an important group of diseases include congenital my...

chédiak-higashi syndrome is a rare autosomal recessive congenital immunodeficiency mainly characterized by a condition called oculo-cutaneous albinism. the affected subjects have light-colored hair, vision problems, blood clotting (coagulation) abnormalities and in adulthood varying neurologic disorders. recurrent infections, particularly viral infection with other disorders in childhood are us...