ABSTRACT
The use of Rh immune globulin (RhIG) has dramatically decreased the incidence of hemolytic disease of the fetus and newborn resulting from the production of anti-D by an Rh-negative woman. However, despite the widespread use of RhIG, instances of Rh immunization continue to occur, most likely through failure to administer RhIG when indicated or in the appropriate dose. This utilization gap can be closed only through continued active surveillance by health care providers. The following report summarizes recommendations for the administration of RhIG, the dose required in various circumstances, prenatal and postnatal serologic testing of the obstetric patient, and the methods used to determine the degree of fetomaternal hemorrhage or the amount of Rh-positive RBCs in the circulation.
Subject(s)
Erythroblastosis, Fetal/prevention & control , Rho(D) Immune Globulin/administration & dosage , Erythroblastosis, Fetal/diagnosis , Female , Fetal Blood/immunology , Fetomaternal Transfusion/diagnosis , Humans , Infant, Newborn , Pregnancy , Pregnancy Complications/blood , Serologic TestsABSTRACT
OBJECTIVE: To illustrate the utility of a rule-based expert system in diagnosing hemoglobin disorders. DESIGN: A rule-based expert system was developed for diagnosing hemoglobin disorders. This expert system runs on IBM-compatible personal computers and uses a backward-chaining search strategy to draw conclusions. Laboratory data (ie, results of hemoglobin electrophoresis, quantitative measurements of hemoglobin F and hemoglobin A2 levels, and result of a sickle cell screen) are processed by the system using defined rules to obtain a set of differential diagnoses. Additional data, such as hematologic parameters, ethnicity of the patient, and the presence or absence of certain clinical signs and symptoms, aid in making a final diagnosis. The rules in the current version of this expert system include diagnostic criteria for 71 hemoglobin disorders. SETTING: Regional academic medical center. PATIENTS: We tested the system by using 58 survey sample cases offered by the College of American Pathologists during the period of January 1989 through December 1994. MAIN OUTCOME MEASURE: The established diagnosis for a given case must be included in the list of differential diagnoses suggested by the expert system. RESULTS: The expert system included the actual diagnosis as one of the top four differential diagnoses in 90% of the cases, whereas all the laboratories participating in the survey included it in 84% (mean) of the cases. CONCLUSION: We propose that this user-friendly expert system is a potential tool for computer-assisted diagnosis of hemoglobin disorders.
Subject(s)
Clinical Laboratory Techniques/methods , Expert Systems , Hemoglobinopathies/diagnosis , Diagnosis, Differential , Humans , Thalassemia/diagnosisSubject(s)
Amyloidosis/diagnosis , Cardiomyopathies/diagnosis , Heart Failure/diagnosis , Aged , Biopsy , Diagnostic Imaging , Heart Function Tests , Humans , Male , Myocardium/pathologyABSTRACT
An infant with a 47,XXX chromosome constitution, who died shortly after birth, had laryngeal atresia, pulmonary hypoplasia, craniofacial anomalies, urogenital malformations including unilateral renal agenesis, hydrometrocolpos and ovarian dysgenesis, and mildly abnormal endochondral ossification. Implications for genetic counseling are presented.
Subject(s)
Abnormalities, Multiple/genetics , Sex Chromosome Aberrations/pathology , Trisomy , X Chromosome , Facial Bones/abnormalities , Female , Humans , Infant, Newborn , Larynx/abnormalities , Lung/abnormalities , Skull/abnormalities , Urogenital AbnormalitiesABSTRACT
Here we report on a prepubertal boy with the Berk-Tabatznik syndrome. Manifestations included short stature, congenital optic atrophy, and hypoplasia of the cervical vertebral bodies and distal phalanges. Prognosis was adversely affected by visual and auditory difficulties. The cause of this condition remains unknown.
