1/7. Griscelli syndrome: rare neonatal syndrome of recurrent hemophagocytosis.Griscelli syndrome (GS) is a rare inherited disease characterized by immunodeficiency and partial albinism. The microscopic findings of the skin and hair are highly suggestive of the disease. The GS locus colocalizes on chromosome 15q21 with the myosin-Va gene (MYO5a), and mutations have been identified in few patients. We describe a 2-month-old Hispanic girl with severe pancytopenia secondary to hemophagocytosis. Even though a mutation at the Griscelli locus had not been identified, her clinical features and outcome were typical of GS. The purpose of this article is to alert physicians to the association between GS and hemophagocytosis. We suggest that GS should be considered in infants with hemophagocytosis because the features of partial albinism can be subtle. The relevant literature is summarized.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
2/7. Primary immunodeficiency or not? Making the correct diagnosis.Making a correct diagnosis of a primary immunodeficiency disease is crucial for the selection of proper therapy. Although many cases go undiagnosed, there are also many instances of incorrect diagnosis that result in years of inappropriate treatment and failure to implement beneficial treatment. This article summarizes 2 actual cases in which incorrect diagnoses led to recommendations of unwarranted high-risk or costly treatments. Had the physicians chosen tests of immune function rather than relying on immunoglobulin levels or cell counts, they would have arrived at the true diagnoses.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
3/7. Chemical sensitivity in physicians.By the nature of their work environment, physicians may be exposed to potentially toxic substances that can trigger chemical sensitivity. Nineteen physicians with chemical sensitivity were evaluated at the environmental health Center - Dallas regarding: type of specialty, history of chemical exposure, symptoms produced, food and water tolerance, immune parameters and double-blind chemical inhalation challenge. food and chemical sensitivities were demonstrated in these physicians by oral, intradermal and inhalation challenges. After treatment, fifteen of the nineteen physicians were able to resume medical practice. Potential sources of chemical exposure in medical environments are evaluated.- - - - - - - - - - ranking = 8keywords = physician (Clic here for more details about this article) |
4/7. Neurologic complications in oral polio vaccine recipients.Between April 1982 and June 1983 four children 3 to 24 months of age were referred for evaluation of neurologic abnormalities found to be compatible with vaccine-related poliovirus infection, which had not been suspected by referring physicians. patients were epidemiologically unrelated residents of indiana, and none had prior symptoms suggestive of immunodeficiency. All had received poliovirus vaccine orally (first dose in three, fourth dose in one) and a diphtheria-tetanus-pertussis injection in the left anterior thigh within 30 days of symptoms. A vaccine-like strain of poliovirus was isolated from each patient, and each had symptoms (left leg paralysis in three; developmental regression, spasticity, and progressive fatal cerebral atrophy in one) persisting for at least 6 months. Immune function was normal in two with poliovirus type 3 infection, and abnormal (hypogammaglobulinemia, combined immunodeficiency) in two with type 1 and type 2 infection, respectively. The incidence of observed vaccine-related poliovirus infection in indiana recipients of orally administered poliovirus vaccine was 0.058 per 100,000 per year, significantly greater (P less than 0.001) than predicted.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
5/7. Respiratory infections may reflect deficiencies in host defense mechanisms.Serious respiratory tract infections are rare in the healthy individual and most of the nuisance morbidity that occurs results from nasopharyngeal viral infections that many people get once or twice a year. The economic impact from these upper respiratory tract infections is appreciable, however, in terms of absenteeism from school or work, but unfortunately there is little that can be done to ward them off in a practical way. pneumonia is an infrequent lifetime experience for most non-smoking adults and when it occurs, unusual circumstances may pertain--a particularly virulent microorganism is in circulation, or perhaps one has been exposed to a newly recognized germ, such as has occurred with legionella species in the past 8 years or so. What protects us the great majority of the time is a very effective network of respiratory tract host defenses. These include many mechanical and anatomical barrier mechanisms concentrated in nose and throat; mucociliary clearance, coughing and mucosal immunoglobulins in the conducting airways and in the air-exchange region of the alveolar structures, phagocytes, opsonins, complement, surfactant and many other factors combine to clear infectious agents. The ability to mount an inflammatory response in the alveoli may represent the maximal and ultimate expression of local host defense. In some way these host defenses are combating constantly the influx of micro-organisms, usually inhaled or aspirated into the airways, that try to gain a foothold on the mucosal surface and colonize it. But many general changes in overall health such as debility, poor nutrition, metabolic derangements, bone marrow suppression and perhaps aging promote abnormal microbial colonization and undermine the body's defenses that try to cope with the situation. It is a dynamic struggle. The departure from normal respiratory health may not be obvious immediately to the patient or to the physician and repeated episodes of infection or persisting symptoms of cough, expectoration and sinus or ear infections may develop before serious assessment of the situation is taken and appropriate diagnosis gotten underway. Obvious explanations for respiratory infections may be apparent and, nowadays, side effects from antineoplastic chemotherapy or immunosuppressive therapy for a variety of diseases that create an immunocompromised host are common. In a few subjects, especially young adults who present with a cumulative history of frequent but mild infections in childhood and youth, a subtle deficiency in host defenses may exist and have been partially masked because of attentive pediatric medical care and prompt use of broad spectrum antibiotics.(ABSTRACT TRUNCATED AT 400 WORDS)- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
6/7. superinfection: another look.superinfection in the compromised host often poses a diagnostic and therapeutic dilemma for the physician who is concerned that a perplexing array of microorganisms might be involved. We believe that the differential diagnosis list can often be narrowed considerably by separating superinfection in the compromised host into five convenient categories: (1) infections due to the underlying disease itself; (2) infections due to the underlying disease plus therapy for that disease; (3) infections due solely to medicaments, operations, or procedures; (4) infections increased in severity but probably not in incidence; and (5) societally related infections. Use of this or a similar categorization should result in a more rational approach to differential diagnosis, should encourage a more focused diagnostic work-up, whould reduce the necessity for invasive procedures, should provide the microbiology laboratory information about specific organisms that should be sought sedulously, and should permit the selection of a more rational antimicrobial regimen prior to the availability of definitive microbiologic information.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
7/7. Immune deficiency in familial duodenal atresia.The familial occurrence of duodenal atresia is uncommon. This study evaluated the inheritance patterns, the nature and associations, and the presence of immunologic deficits in duodenal atresia recurring in at least three siblings each in two nonrelated families. In the first family, an association with Fanconi's anemia was observed in three of seven pregnancies (2 boys, 1 girl) suggesting an autosomal recessive mode of transmission. patients died as a result of overwhelming (fungal) septicemia in association with pancytopenia. In a second family, identical multiple atresias occurred in two female siblings born 18 months apart and a third child with a duodenal stenosis. Overwhelming sepsis and a T-cell dysfunction was seen in the postoperative period, which had partially corrected by follow-up at 5 months. A history of family occurrence of duodenal atresia should alert the physician to the possibility of associated pathology including immune deficiency states.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |