1/7. Tethered cord syndrome in adults.adult onset of tethered cord syndrome is a rare pathologic entity. Its treatable nature makes early diagnosis and timely surgical intervention important goals. Because of present referral patterns, adult patients with tethered cord syndrome may present initially to their primary care physician. We present a recent representative case of adult-onset tethered cord syndrome, with emphasis on initial complaints and the symptom constellation relevant to the primary care physician. Thorough clinical history and physical examination should direct investigators to include tethered cord syndrome in the differential diagnosis of select patients.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/7. valproic acid embryopathy: report of two siblings with further expansion of the phenotypic abnormalities and a review of the literature.Fetal Valproate syndrome (FVS) results from prenatal exposure to valproic acid (VPA). It is characterized by a distinctive facial appearance, a cluster of minor and major anomalies, and central nervous system dysfunction. In this study, two siblings who were exposed to monotherapy with VPA are described with documentation of long-term follow up. Both children had craniofacial findings, multiple systemic and orthopedic abnormalities, an overgrowth pattern, and developmental deficits. The literature from 1978-2000 is reviewed. A total of 69 cases that were solely exposed to VPA with adequate phenotypic description were identified. The clinical manifestations of FVS encompass a wide spectrum of abnormalities including consistent facial phenotype, multiple systemic and orthopedic involvement, central nervous system dysfunction, and altered physical growth. The facial appearance is characterized by a small broad nose, small ears, flat philtrum, a long upper lip with shallow philtrum, and micro/retrognathia. In this review, 62% of the patients had musculoskeletal abnormalities, 30% had minor skin defects, 26% had cardiovascular abnormalities, 22% had genital abnormalities, and 16% had pulmonary abnormalities. Less frequently encountered abnormalities included brain, eye, kidney, and hearing defects. neural tube defects were seen in 3% of the sample. Twelve percent of affected children died in infancy and 29% of surviving patients had developmental deficits/mental retardation. Although 15% of patients had growth retardation, an overgrowth pattern was seen in 9%. The data from this comprehensive review especially the developmental outcome should be added to the teratogenic risk, that arises in association with the use of VPA during pregnancy.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
3/7. High risk of malignancy in mosaic variegated aneuploidy syndrome.Fourteen cases of mosaic variegated aneuploidy (MVA) syndrome have been reported in the last 10 years. The phenotype of this rare condition has been quite consistent: severe microcephaly, growth deficiency, mild physical anomalies, and mental retardation. We describe here a young boy in whom MVA syndrome is associated to myelodysplasia with a monosomy 7 bone marrow clone. At the age of 3 years, myelodysplasia progressed to an acute lymphoblastic leukemia, and the patient died soon after. Several syndromes with short stature and severe microcephaly, such as the Seckel and Nijmegen syndromes, comprise hematological findings and chromosome instability. However, chromosome instability was not confirmed in our patient. MVA with hematological findings has not been reported before, but 3 patients of 14 (21%) have developed a malignancy (rhabdomyosarcoma, acute lymphoblastic leukemia, and nephroblastoma). Therefore, we propose that MVA is a condition predisposing to neoplasia.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
4/7. neural tube defects and omphalocele in trisomy 18.A trisomy 18 fetus with severe congenital anomalies including craniorachischisis, large omphalocele, and bilateral cleft lip and palate is reported. The occurrence of neural tube defects and/or omphalocele in reported cases of trisomy 18 is discussed and the frequency of these anomalies in 85 trisomy 18 patients evaluated at indiana University School of medicine from 1963 to 1986 is reviewed. In this series of patients the frequency of neural tube defects was 7.0% and the frequency of omphaloceles was 5.9%. The percentage of these findings in our cases supports the premise that neural tube defects and omphaloceles are part of the trisomy 18 phenotype. Since fetuses with trisomy 18 are subject to early fetal loss or premature birth, the more subtle physical features of this condition may not be apparent. Thus, karyotyping of fetuses and premature infants with either neural tube defect or omphalocele should be considered.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
5/7. Effects of arm ergometry training in an adolescent with myelodysplasia. A case report.The purpose of this article is to report the effects of arm ergometry training on upper extremity strength, body composition, and oxygen uptake in a 13-year-old adolescent with myelodysplasia. The subject trained three times a week for eight weeks at 75% of maximum heart rate. The following measurements were determined before and after the training period: maximal and submaximal heart rate and oxygen uptake, percent body fat, and peak torque of the elbow and shoulder flexor and extensor muscles. The results indicated that maximal oxygen uptake and percent body fat did not change, but maximal physical work capacity increased from 274 kg . m/min to 569 kg X m/min. heart rate and oxygen uptake decreased at each submaximal work load, and peak torque increased an average of 22.3% for the movements tested. We concluded that arm ergometry training in an adolescent with myelodysplasia can reduce the energy cost of performing submaximal arm ergometry work.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
6/7. A systematic approach to macrocytosis. Sorting out the causes.Because of the widespread use of multiparameter hematology instruments, physicians are often presented with patients who have macrocytosis with no obvious cause. Depending on the demographics of an individual practice, folate and vitamin B12 deficiencies may be relatively rare causes of macrocytosis, compared with alcoholism, liver disease, drugs, or myelodysplasia. Initial evaluation should include a carefully taken history and physical examination along with a complete hematologic profile, reticulocyte count, and peripheral blood smear. This initial evaluation should allow systematic consideration of the possible causes. serum B12 and red cell folate determinations and other studies may then be undertaken as appropriate.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
7/7. A syndrome of facial dysmorphia, birth defects, myelodysplasia and immunodeficiency in three sibs of consanguineous parents.We report on three sibs (two females, one male) with a syndrome including physical and mental developmental delay, facial dysmorphia, an increased number of skin folds and recurrent infections. Pulmonary infections were especially severe and frequent, leading to bronchiectasis. steatorrhea was intermittent. A sweat test was normal. Congenital heart defect was present in two sibs and vesico-ureteral reflux was diagnosed in two sibs. neutropenia was the most obvious immunological defect. Myelodysplasia was noted. Acute myeloblastic leukemia developed in one sib. The healthy parents of the patients are first cousins. The consanguinity of the parents points-to an autosomal recessive mode of inheritance of this new syndrome but a mitochondrial disorder cannot be excluded.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |