Bone Mineral Density in Hemophilia Patients

Patients with hemophilia suffer from low bone mineral density (BMD) due to several risk factors including arthropathy and resulting immobility. Recent studies have shown variable frequency of low BMD in this group of patients. This study attempts to assess the prevalence of low BMD (osteoporosis and osteopenia) and the associated risk factors in a group of Iranian hemophilia patients. Patients with moderate or severe hemophilia underwent BMD measurement by dual energy X-ray absorptiometry. The results were correlated with other variables including physical activity, calcium intake and demographic data. Forty two patients with the mean age of 31 years (range 18–72) completed the study. The prevalence of osteoporosis in the spine and the left femoral neck was 23.8 and 14.6 %, respectively, and osteopenia in the spine and femoral neck was seen in 45.2 and 31.7 % of the patients, respectively based on the WHO T-score criteria. We found only cigarette smoking to be significantly related to low BMD (P < 0.001). There were two cases of pathologic fracture at femoral neck and forearm (4.8 %). Low BMD is very common in patients with hemophilia. Appropriate assessment of BMD and control of predisposing factors such as prophylactic factor replacement (to prevent hemarthrosis) and cessation of cigarette smoking are warranted.     

Attempted auto-enucleation in two incarcerated young men with psychosis

Auto-enucleation is a sign of untreated psychosis. We describe two patients who presented with attempted auto-enucleation while being incarcerated. This is an observation two-case series of two young men who suffered untreated psychosis while being incarcerated. These young men showed severe self-inflicted ocular trauma during episodes of untreated psychosis. Injuries included orbital bone fracture and dehiscence of the lateral rectus in one patient and severe retinal hemorrhage and partial optic nerve avulsion in the second patient. Auto-enucleation is a severe symptom of untreated psychosis. This urgent finding can occur in a jail setting in which psychiatric care may be minimal.     

Rubella virus glycoprotein interaction with the endoplasmic reticulum calreticulin and calnexin

Summary.  Very little is known about the cellular factors that are required for the maturation of rubella virus glycoproteins (E2 and E1) in the endoplasmic reticulum of the infected cell. In the present study, we established the interaction of the ER chaperone proteins, calreticulin and calnexin, with the RV E1 and E2 proteins in cells stably expressing the viral proteins. The interaction between E2 and calnexin was significantly higher than with calreticulin. In pulse-chase experiments, the half-life of the E2-calnexin was >45 min, whereas the half-life of the calreticulin-E2 interaction was ∼10 min. Tunicamycin and castanospermine treatments altered the mobilities of intracellular E1 and E2, due to either lack of oligosaccharide ligand addition or trimming of terminal glucose residues, respectively. Further, the drug treatments resulted in a loss of E1 and E2 interaction with calreticulin or calnexin, thereby demonstrating that the interaction is through monoglucosylated forms of RV proteins. These studies suggest that the interaction of RV glycoproteins with the ER chaperone proteins is essential for their maturation in the endoplasmic reticulum. Received May 12, 2000 Accepted August 18, 2000     

Renal mass: a confusing feature of sarcoidosis

Sarcoidosis is a systemic disorder with a wide spectrum of clinical involvements. Renal mass is a very rare condition in sarcoidosis. Here, we report a 34-year-old female with renal masses and advanced renal failure. The condition created a lot of diagnosis difficulties. Finally, after histologic diagnosis and corticosteroid therapy, renal masses were resolved and she became free from dialysis.     

Interactions between atracurium and vecuronium on indirectly elicited muscle twitch in vitro

In vitro experiments using the indirectly stimulated rat phrenic-nerve diaphragm preparation have demonstrated simple summation of the inhibitory actions of vecuronium and atracurium.     

Anaplastic carcinoma of the thyroid with osteoclast-like giant cells

An unusual malignant thyroid neoplasm with a morphologic resemblance to giant cell tumor of the bone is reported in a patient who presented with a rapidly growing thyroid mass and a history of pre-existing goiter. The light and electron microscopic studies disclosed areas of differentiated follicular carcinoma with gradual transition to undifferentiated carcinoma. Pleomorphic spindle-shaped cells and giant cells were accompanied by numerous osteoclast-like multinucleated giant cells. Desmosomes and interdigitating cell surfaces were apparent in the differentiated as well as undifferentiated areas on electron microscopy. These findings support an epithelial rather than a mesenchymal origin for this neoplasm.     

A haplotype framework for cystic fibrosis mutations in Iran

This is the first comprehensive profile of cystic fibrosis transmembrane conductance regulator (CFTR) mutations and their corresponding haplotypes in the Iranian population. All of the 27 CFTR exons of 60 unrelated Iranian CF patients were sequenced to identify disease-causing mutations. Eleven core haplotypes of CFTR were identified by genotyping six high-frequency simple nucleotide polymorphisms. The carrier frequency of 2.5 in 100 (1 in 40) was estimated from the frequency of heterozygous patients and suggests that contrary to popular belief, cystic fibrosis may be a common, under-diagnosed disease in Iran. A heterogeneous mutation spectrum was observed at the CFTR locus in 60 cystic fibrosis (CF) patients from Iran. Twenty putative disease-causing mutations were identified on 64 (53%) of the 120 chromosomes. The five most common Iranian mutations together represented 37% of the expected mutated alleles. The most frequent mutation, DeltaF508 (p.F508del), represented only 16% of the expected mutated alleles. The next most frequent mutations were c.1677del2 (p.515fs) at 7.5%, c.4041C>G (p.N1303K) at 5.6%, c.2183AA>G (p.684fs) at 5%, and c.3661A>T (p.K1177X) at 2.5%. Three of the five most frequent Iranian mutations are not included in a commonly used panel of CF mutations, underscoring the importance of identifying geographic-specific mutations in this population.