Subject(s)
Breast Feeding , Cultural Characteristics , Islam , Vitamin D Deficiency/etiology , Humans , InfantABSTRACT
We report a case of severe haemophilia A (<1% factor VIII level) in a female resulting from an interesting and improbable combination of events. The patient inherited a factor VIII intron 22 inversion from her carrier mother, as well as a second factor VIII inversion involving intron 22 that arose de novo on her paternally derived X chromosome. In addition, the patient's paternally derived X chromosome had been preferentially inactivated in 95+% of her somatic cells. The patient's mother, who was clinically unaffected, carried an intron 22 inversion as well and also showed nonrandom X-inactivation. The patient's mother had a brother with severe haemophilia A. It is therefore likely that the mother's inversion was on her maternally derived X chromosome. Since she was unaffected, it is likely that her inversion-bearing X was the one that was preferentially inactivated.
Subject(s)
Hemophilia A/genetics , Sex Chromosome Aberrations/genetics , Blotting, Southern , Chromosome Inversion , DNA Methylation , Factor VIII/genetics , Family Health , Female , Gene Silencing , Heterozygote , Humans , Infant , X Chromosome/geneticsSubject(s)
Antibodies, Monoclonal/administration & dosage , Appointments and Schedules , Respiratory Syncytial Virus Infections/drug therapy , Antibodies, Monoclonal/economics , Antibodies, Monoclonal, Humanized , Cost Savings , Drug Packaging , Humans , Infant , Palivizumab , Respiratory Syncytial Virus Infections/economics , Respiratory Syncytial VirusesSubject(s)
Bacteremia/complications , Diarrhea/etiology , Pneumococcal Infections/complications , Anti-Bacterial Agents/therapeutic use , Bacteremia/diagnosis , Bacteremia/drug therapy , Child, Preschool , Diarrhea, Infantile/etiology , Fever/etiology , Humans , Infant , Pneumococcal Infections/diagnosis , Pneumococcal Infections/drug therapySubject(s)
Attitude to Health , Camping/psychology , Disease/psychology , Adolescent , Child , Female , Humans , MaleSubject(s)
Anticonvulsants/adverse effects , Blood Coagulation Factors/adverse effects , Epilepsy/drug therapy , Pregnancy Complications/drug therapy , Vitamin K Deficiency Bleeding/therapy , Female , Hepatitis B/transmission , Humans , Infant, Newborn , Pregnancy , Vitamin K Deficiency Bleeding/chemically inducedSubject(s)
Blood Platelet Disorders/chemically induced , Cephalosporins/adverse effects , Hypoprothrombinemias/chemically induced , Moxalactam/adverse effects , Vitamin K Deficiency/chemically induced , Adult , Aged , Bleeding Time , Child , Humans , Hypoprothrombinemias/drug therapy , Infant , Partial Thromboplastin Time , Platelet Aggregation/drug effects , Prothrombin Time , Vitamin K 1/therapeutic use , Vitamin K Deficiency/drug therapySubject(s)
Black People , Leukemia, Lymphoid/diagnosis , Granulocytes , Humans , Infant , Leukocyte Count , PrognosisSubject(s)
Anemia, Sickle Cell/complications , Exophthalmos/etiology , Infarction , Orbit/blood supply , Child , Female , HumansSubject(s)
Hemoglobins, Abnormal , Chicago , Chromatography, High Pressure Liquid , Hispanic or Latino , Humans , Infant , Mexico/ethnologySubject(s)
Phenobarbital/adverse effects , Phenytoin/adverse effects , Pregnancy Complications/drug therapy , Seizures/drug therapy , Vitamin K Deficiency Bleeding/chemically induced , Adult , Female , Humans , Infant, Newborn , Pregnancy , Vitamin K Deficiency Bleeding/diagnosis , Vitamin K Deficiency Bleeding/therapySubject(s)
Anemia, Sickle Cell/complications , Mandible/innervation , Paresthesia/etiology , Child , Chin , Female , HumansABSTRACT
Readers are invited to submit questions relating to problem cases. Inquiries will be answered by qualified consultants and replies forwarded by mail promptly. Selected problems and solutions are published every month in this section.
Subject(s)
Gingival Diseases/etiology , Pneumococcal Infections/complications , Sepsis/etiology , Humans , Infant , MaleABSTRACT
During the 11 years between July, 1967 and June, 1978, 35 children with a major hemoglobinopathy (SS, SC, S-thalassemia) underwent 46 operations without any mortality or unusual morbidity. All of these children were prepared for surgery by preoperative transfusion of 15-20 cc/kg packed erythrocytes and a hematocrit of at least 36%. In urgent and emergent situations, the operation was performed as soon as the transfusion was completed. For elective patients, the operation was the following morning. The ease of application and the absence of morbidity and mortality suggest that this method of preoperative transfusion preparation of children with a major hemoglobinopathy is more desirable than a two-volume exchange or transfusions beginning 10-15 days prior to surgery.
Subject(s)
Anemia, Sickle Cell/surgery , Blood Transfusion/methods , Preoperative Care , Adolescent , Anemia, Sickle Cell/blood , Blood Transfusion/economics , Child , Child, Preschool , Female , Hematocrit , Hemoglobin, Sickle , Humans , Infant , MaleABSTRACT
Diarrhea with fever was a significant complaint in 26 of 280 (9.3%) of non-SS children with S. pneumoniae bacteremia and four of 30 (13%) children with sickle syndromes and S. pneumoniae bacteremia. Two additional children with sickle-cell disease and S. pneumoniae bacteremia developed diarrhea within hours of hospital admission; four of the six died. The mortality rate among 24 additional SS patients with S. pneumoniae bacteremia without diarrhea was 12.5% (3/24). Only one of 26 non-SS patients with diarrhea and S. pneumoniae bacteremia died; shs was surgically asplenic and had fulminant 9-hour course. The seasonality of the diarrhea cases was similar to our overall experience, and the serotypes associated with the diarrhea cases were also representative of our overall experience. Although predominantly seen in infants, the oldest non-SS patient was 12 years, and the oldest SS patient was nine years.