Eleven novel mutations in the factor VIII gene from Brazilian hemophilia A patients

The molecular characterization of the mutations in hemophilia A patients is hampered by the large size of the factor VIII gene and the great heterogeneity of mutations. In this study, we have performed a protocol involving multiplex polymerase chain reaction in which 19 exons were amplified in four different combinations followed by nonradioactive single-strand conformational polymorphism (SSCP) to screen for mutations. Southern blotting was used to detect inversion of the factor VIII gene resulting from recombination between copies of the gene A (F8A) located in intron 22 of the factor VIII gene and two copies close telomeric region of X chromosome. Forty-two hemophilia A patients (21 with severe and 21 with mild-to-moderate disease) were studied. The inversion of factor VIII occurred in 13 of 21 patients affected by severe hemophilia A. One patient showed a large extra band in addition to the three bands observed after Southern blotting with the F8A probe. An abnormal electrophoretic pattern of SSCP was detected in 85% and 50% of the patients affected by mild-to-moderate and severe disease, respectively. Sixteen different mutations were identified. Eleven mutations were novel and comprised 9 point mutations and 2 small deletions. This study shows that the methodology used is safe and rapid and has potential for detecting almost all of the genetic defects of the studied hemophilia A patients.     

Factors associated with regional rheumatic pain disorders in a population of Puerto Ricans with diabetes mellitus

The aim of the study was to determine the prevalence and factors associated with bursitis/tendonitis disorders in Puerto Ricans with diabetes mellitus (DM). A cross-sectional study was performed in 202 adult Puerto Ricans (100 DM patients and 102 non-diabetic subjects). For each participant, a complete medical history and a musculoskeletal exam were systematically performed. Socio-demographic parameters, health-related behaviors, comorbidities, and pharmacotherapy were determined for all subjects. For DM patients, disease duration, glycemic control, and DM long-term complications were also examined. Multivariate logistic regression analyses were used to determine the factors associated with bursitis/tendonitis disorders. The mean (SD) age for DM patients and non-diabetic controls were 53.3 (12.9) and 50.0 (13.1) years; 64.0 and 64.7 % of DM patients and controls were females, respectively. Overall, the prevalence of bursitis/tendonitis was higher in DM patients than among non-diabetics (59.0 % vs. 29.4 %, p?<?0.01). In multivariate analyses, DM patients had 2.47 (95 % CI 1.05, 5.84) the odds of having bursitis/tendonitis as compared to non-diabetics. Specifically, DM patients had a higher frequency of flexor tenosynovitis, De Quervain’s tenosynovitis, lateral epicondylitis, medial epicondylitis, trochanteric bursitis, and anserine bursitis than non-diabetic subjects (p?<?0.05). Among DM patients, multivariate analyses showed that those with bursitis/tendonitis were more likely to be female [OR (95 % CI) 4.55 (1.42, 14.55)] and have peripheral vascular disease [OR (95 % CI) 8.48 (1.71, 41.93)]. In conclusion, bursitis/tendonitis disorders were common in this population of Hispanics with DM. Among DM patients, bursitis/tendonitis disorders were more frequent in women and those with long-term complications such as peripheral vascular disease.     

Immediate food hypersensitivity reactions on the first known exposure to the food

We report 8 infants with immediate hypersensitivity reactions to foods (milk, egg, or peanut), occurring at the first-known exposure. Each developed symptoms within the first hour, but these generally settled within 2 hours. Sensitisation to the food concerned was demonstrated by positive immediate allergen skin prick tests in every case. Symptoms experienced included irritability, erythematous rash, urticaria, angio-oedema, vomiting, rhinorrhoea, and cough. Five infants were being followed prospectively and 4 were clinically tolerant of the food by age 16 months. The most likely route of sensitisation was via breast milk. None of the infants experienced similar reactions while being breast fed, suggesting that the reaction was dose dependent. As 5 out of a group of 80 infants being followed prospectively developed an immediate reaction at their first known exposure to a food, this appeared to be a not uncommon presentation of food hypersensitivity in infancy.     

Neuroprotective effects of brimonidine against transient ischemia-induced retinal ganglion cell death: a dose response in vivo study

The purpose of this study was to investigate the dose-response effects of topically administered brimonidine (BMD) on retinal ganglion cell (RGC) survival, short and long periods of time after transient retinal ischemia. In adult Sprague-Dawley rats, RGCs were retrogradely labeled with the fluorescent tracer fluorogold (FG) applied to both superior colliculi. Seven days later, the left ophthalmic vessels were ligated for 90 min. One hr prior to retinal ischemia, two 5 microl drops of saline alone or saline containing 0.0001, 0.001, 0.01 or 0.1% BMD were instilled on the left eye. Rats were processed 7, 14 or 21 days later and densities of surviving RGCs were estimated by counting FG-labeled RGCs in 12 standard regions of each retina. The following have been found. (1) Seven days after 90 min of transient ischemia there is loss of approximately 46% of the RGC population. (2) topical pre-treatment with BMD prevents ischemia-induced RGC death in a dose-dependent manner. Administration of 0.0001% BMD resulted in the loss of approximately 37% of the RGC population and had no significant neuroprotective effects. Administration of higher concentrations of BMD (0.001 or 0.01%) resulted in the survival of 76 or 90%, respectively, of the RGC population, and 0.1% BMD fully prevented RGC death in the first 7 days after ischemia. (3) Between 7 and 21 days after ischemia there was an additional slow cell loss of approximately 25% of the RGC population. Pre-treatment with 0.1% BMD also reduced significantly this slow cell death. These results indicate that the neuroprotective effects of BMD, when administered topically, are dose-dependent and that the 0.1% concentration achieves optimal neuroprotective effects against the early loss of RGCs. Furthermore, this concentration is also effective to diminish the protracted loss of RGCs that occurs with time after transient ischemia.     

Generalized spike-and-wave patterns in children: clinical correlates

All electroencephalograms performed in our institution between 1980 and 1990 were reviewed. The clinical characteristics of children with epilepsy and generalized spike-and-wave (SW) patterns were analyzed. The SW patterns were classified according to their frequency. Electroencephalograms of 154 children with epilepsy revealed SW patterns. Absence seizures were the most common first seizure, but partial seizures were frequent. More than 40% had several types of seizures. Sixty percent of the epileptic syndromes were generalized, but almost 25% were partial. The typical SW pattern was associated with absence seizures, a normal examination and computed tomographic scan, idiopathic generalized epilepsies, monotherapy, freedom from seizures, and lack of recurrence. The slow SW pattern was associated with West syndrome; a younger age at seizure onset; atonic, myoclonic, tonic, and partial simple seizures; an abnormal examination and computed tomographic scan; cryptogenic or symptomatic generalized epilepsy or symptomatic partial epilepsy; polytherapy; and poor seizure control. The fast SW pattern was associated with secondary generalized, partial, tonic-clonic, and complex partial seizures; a normal computed tomographic scan; cryptogenic partial epilepsy; isolated seizures; and seizure recurrence. Epilepsy with a typical SW pattern should be considered benign, epilepsy with a slow SW pattern malignant, and epilepsy with a fast SW pattern treacherous.     

Reviewing structures and reorganizing our communication

The development of training programs on system enterprise can be carried out individually or in group taking into consideration the importance of the balance between cost and benefits. Presently, people are exposed to different sorts of communication that convey multiple personal, interpersonal and group situations. For health professionals, communication is fundamental since they are constantly facing crisis situations. The article reports on the implementation of a sensitization program carried out with a group of nurses from a problematic unit, aiming at restoring their sense of self-worth in order to prepare them for team work. The program relies on two basic premises: changes are part of life and the importance of being aware of people's development. Communication is what makes possible the awareness of these changes. Such training is a continuous process and represents a challenge for health managers in search of better quality of health care.