Treatment of familial dysautonomia with bethanecol (urecholine).
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Adolescent↗
Biomedical subjects
F B Axelrod
Publications and source records attributed to F B Axelrod.
Disproportionate outdating of group A blood.
The authors studied the factors responsible for the disproportionate outdating of group A blood compared with group O blood over a 6-month interval. Distribution, transfusion, and outdate data for 99,251 units of blood were collected from representative hospitals within the region served by the Atlanta Regional Red Cross Blood Center. Factors evaluated included: neonatal transfusion of type O blood to type A recipients; use of type O blood in emergencies or due to group-specific shortages; demographic donor and recipient differences; and blood importing practices. Of 43,757 group O units (44.1% of total) available for distribution, 2050 (4.7%) were outdated, compared with 3908 (10.7%) of 36,501 group A units (36.8% of total). One thousand two hundred and seventy-nine units of type O blood were transfused to recipients who were not type O, including 842 group A neonatal patients. A larger inner-city hospital, where 46.8 percent of recipients were group O and 29.2 percent were group A, accounted for 180 more group O and 509 fewer group A transfusions than would be expected if donor-recipient ABO distributions were the same. Three hundred and seventy-four more group A units were imported than were needed. ABO-mismatched transfusions due to shortage or emergency were insignificant. It was concluded that increased use of group O blood for neonatal transfusions, donor-recipient differences in blood group frequencies, and blood importing practices are the major factors that increase the rate of group A outdating.
ABO Blood-Group System↗
Electrocardiographic measures and heart rate variability in patients with familial dysautonomia.
Cardiovascular abnormalities are prominent in the genetic disorder, familial dysautonomia (FD). To determine if autonomic dysfunction involves cardiac, as well as peripheral vascular integrity, noninvasive tests were performed in 10 FD patients and 8 healthy control subjects while supine and at 90 degrees tilt. Simultaneous blood pressure (BP) and heart rate (HR) and QTc were obtained, while performing signal-averaged electrocardiography (SAECG) and heart rate variability (HRV). FD subjects were tested on 2 separate days, before and 1 h after oral fludrocortisone or midodrine; controls were tested once without medication. With tilt, all FD subjects decreased mean BP > or = 24 mm Hg by 5 min. On SAECG, 70% of supine FD subjects had a prolonged tQRS; only 2 FD subjects shortened tQRS with tilt. The QTc interval was prolonged (> 440 ms) in 2 supine FD subjects; with tilt, the QTc prolonged in a third. Frequency domain analysis of HRV revealed that mid (MF) and high frequency band areas were significantly decreased when supine, but not when upright. On time domain analysis, the pNN50 was significantly decreased in FD subjects (8.9 +/- 1.7 vs. 17.7 +/- 3.6%, p < 0.01). Fludrocortisone lowered supine BP and HR and increased supine MF area. Midodrine raised supine and erect BP, lowered erect HR, and shortened erect QTc. Although all FD subjects have abnormal orthostatic BP and HR responses, cardiac tone, as assessed by electrocardiographic and HRV responses, varies. Prolongation of the tQRS appears to be a sensitive but not specific indicator of autonomic dysfunction. QTc prolongation may indicate more extensive sympathetic dysfunction. HRV data suggest some FD patients have abnormalities in parasympathetic, as well as sympathetic, cardiac tone.
Adolescent↗
Nonspinal orthopaedic problems in familial dysautonomia (Riley-Day syndrome).
Familial dysautonomia (FD) is a rare autosomal recessive disease occurring in Ashkenazi Jews. It affects the autonomic, central, and peripheral nervous systems. The purpose of this study was to assess the prevalence and characteristics of orthopedic deformities, other than spinal deformities, in this population. A retrospective review of the medical records and radiographs of 182 patients was made. Three main groups of orthopaedic conditions were evaluated: (a) Fractures: 60% of the patients had one or more fractures; the average fracture rate was 1.4/patient. (b) Neuropathic joints: 11% of the cases had one or more neuropathic joints, the knee being the most common. (c) Other musculoskeletal deformities: 26% of the patients had one or more deformities. Lower extremity rotational problems and foot anomalies accounted for most of these deformities. Patients with FD have a higher prevalence of fractures and neuropathic joints than do their peers. The fracture pattern also is different, with a higher incidence of proximal femoral fractures.
Adolescent↗