Biomedical subjects
Publications and source records attributed to J M Graham.
Five patients undergoing assessment for cochlear implantation have been found to have a nonorganic hearing loss (pseudohypacusis). This phenomenon has not been reported previously in this patient population. The cases are presented and the causes, detection, and management of this condition are discussed.
Since 1981, we have identified 3 patients with mild Brachmann-de Lange syndrome (BDLS) who have had subtle but definite manifestations of the syndrome and mild effects on growth and development. J.G. (B.D. 12/9/72) was first examined at 20 months. He had rather typical craniofacial findings and hirsutism, limitation of full supination of his arms, and brachyclinodactyly of the 5th fingers. IQ was estimated at 65. K.H. (B.D. 10/10/83) was first examined by us at age 9 months and was diagnosed as having "mild" BDLS. At age 5, K.H. has demonstrated relatively normal cognitive development (low average-average IQ of 74) with specific learning problems: weakness of visual-motor skills, delayed expressive language development, and articulation difficulties. At age 7, he was attending a regular 1st grade classroom, with some special education assistance. M.E. (B.D. 4/19/78) was diagnosed at age 10 years as having "mild" BDLS. His physical changes were more subtle than those of the 2 patients above. At age 10, M.E. was in the regular 4th grade classroom receiving special education support. His IQ was in the borderline-low-average range. He had strengths in rote verbal skills, with weaknesses in reading and writing. These 3 patients demonstrate mild BDLS in which characteristic manifestations of the syndrome, particularly craniofacial anomalies, are present and recognizable, but quite subtle, thus making the clinical diagnosis difficult. In addition, the milder physical phenotype is associated with milder cognitive and behavioral consequences.(ABSTRACT TRUNCATED AT 250 WORDS)
Brachmann-de Lange syndrome (BDLS) is a well-delineated disorder consisting variably of pre- and postnatal growth deficiency, microbrachycephaly, characteristic face, hypertrichosis, visceral anomalies, and limb defects consisting primarily of variable limb reduction defects, micromelia, and elbow abnormalities. The course is usually marked by initial hypertonicity, low-pitched weak cry, feeding problems, and behavioral problems with marked mental deficiency. In classical cases there is rarely any difficulty in making the diagnosis, but for mildly affected cases, it may be difficult to feel secure about the diagnosis. In an effort to increase the precision of diagnosis for mildly affected cases, we reviewed roentgenograms in 21 cases of Brachmann-de Lange syndrome, as well as previously published descriptions of the radiological manifestations. Unusual radiologic manifestations were related primarily to the limb anomalies, and these were often asymmetric. These manifestations included digital abnormalities, which ranged from acheiria to oligodactyly, hypoplasia of the thumb and first metacarpal, clinodactyly of the fifth finger, or ectrodactyly. Long bone abnormalities included ulnar a/hypoplasia, dysplasia of the radial head, or fusion of the elbow. When there was a single forearm bone, there was often fusion at the elbow and oligodactyly, which made it difficult to determine whether the radius or ulna was absent. Other radiologic manifestations included 13 ribs with precocious sternal fusion, and micrognathia. We suggest that these radiologic manifestations could increase diagnostic precision in mildly affected cases.
We present 12 children with typical Brachmann-de Lange syndrome and congenital diaphragmatic hernia. Affected children were more likely to be of low birth weight and to have major upper limb malformations. Hernia repair was attempted in 4 of these children, and only one survived past 12 months. Newborn infants with congenital diaphragmatic hernia should be examined carefully for evidence of the Brachmann-de Lange syndrome because diagnosis of this condition may influence their clinical management and prognosis.
We report on 2 children with spinal stenosis and neurologic sequelae. They illustrate the 2 ways in which spinal compromise may develop in Proteus syndrome--vertebral anomalies or tumor infiltration. In one patient, spinal stenosis resulted from an angular kyphoscoliosis. In the other, cord compression resulted from infiltration of a paraspinal, intrathoracic angiolipoma.
It is well known that prenatal exposure of valproic acid (VPA) may be associated with the occurrence of neural tube defects (Robert and Gibaud, 1982). Additional adverse effects related to VPA exposure include craniofacial abnormalities, skeletal defects, brain defects, cardiovascular defects, and urogenital defects (DiLiberti et al., 1984; Winter et al., 1987; Huot et al., 1987; Jager-Roman et al., 1986; Martinez-Frias, 1990). Recently, radial ray reduction has been reported as a severe type of skeletal defect associated with VPA exposure (Jager-Roman et al., 1986; Huot et al., 1987; Verloes et al., 1990). We report two additional cases of this severe limb reduction defect as part of a broader pattern of altered morphogenesis in fetuses exposed to VPA and to confirm an association between such severe specific skeletal defects and VPA exposure. We briefly review teratologic studies in experimental animals which document the biologic plausibility of this association, and suggest that fetuses exposed to VPA undergo detailed prenatal ultrasonographic evaluation of the limbs.
Intrauterine fetal movement plays a key role in normal embryonic and fetal development (Moessinger, 1983). When movement is absent or decreased, abnormal development takes place which can be appreciated in newborns and/or fetuses with the fetal akinesia/hypokinesia sequence. This sequence is caused by a number of heterogeneous entities which result in decreased fetal movements by the action of intrinsic or extrinsic factors. Prenatal diagnosis of the akinesia/hypokinesia sequence may be possible during the second trimester through the use of real-time ultrasonographic evaluation of fetal movement. We report a family with three consecutive affected pregnancies in which the prenatal presentation of this sequence varied. Based on the phenotypic findings of the three affected fetuses, we believe that although they superficially resemble those features found in the New-Laxova syndrome, they are probably affected with a distinctly different lethal form of akinesia/hypokinesia transmitted in an autosomal recessive fashion.
OBJECTIVES: Endotoxin, interleukin-1 beta, interleukin-6, and tumor necrosis factor-alpha have been implicated in the pathogenesis of preterm labor, but their acute effect on myometrial contractile activity is unknown. The objective of this study was to determine their effect on isolated pregnant murine myometrial contractile activity. STUDY DESIGN: Isometric contractions were measured in myometrium isolated from pregnancy day 18 Swiss-Webster mice. Frequency, duration, amplitude, and integrated area were compared before and after the addition of endotoxin (10(3) and 10(4) ng/ml) (n = 6), interleukin-1 beta (10 and 10 ng/ml) (n = 6), interleukin-6 (1 and 10 ng/ml) (n = 6), and tumor necrosis factor-alpha (1 and 10 ng/ml) (n = 6). Results were analyzed with the Wilcoxon rank-sum test. RESULTS: The addition of endotoxin, interleukin-1 beta, interleukin-6, or tumor necrosis factor-alpha did not result in a change in the contractile activity of isolated pregnant murine myometrium compared with control. CONCLUSION: Endotoxin, interleukin-1 beta, interleukin-6, and tumor necrosis factor-alpha do not acutely increase isolated murine myometrial contractile activity.
OBJECTIVE: The purpose of our study was to investigate the pathogenesis of preterm labor in pyelonephritis, we determined the number of uterine contractions occurring in patients with pyelonephritis before and after antibiotic therapy. STUDY DESIGN: We recorded the uterine contractions before and after antibiotic administration in 30 patients with acute pyelonephritis at Lyndon B. Johnson Hospital in Houston. Exclusion criteria were cervical dilatation > or = 4 cm, < 26 weeks' gestation, antibiotics within 7 days, clinical intraamniotic infection, rupture of membranes, or other maternal infection. Statistical analysis was by Kruskal-Wallis analysis of variance and Wilcoxon rank sum tests. RESULTS: The patients averaged eight contractions per hour on admission. The contraction rate significantly increased in hours +1 to +4 after antibiotic administration. The increase in uterine contractility occurred in patients with urinary tract gram-negative isolates. CONCLUSIONS: Pregnant women with pyelonephritis resulting from gram-negative bacteria increase their rate of uterine contractility after antibiotic treatment. This observation may be important in understanding the pathogenesis of preterm labor in pyelonephritis.
We reviewed five unreported examples and 23 previously reported cases of urethral obstruction sequence with associated lower limb deficiency. There was no evidence of amniotic bands or exposure to vasoactive drugs during pregnancy in any case. In three infants a gangrenous lesion at the distal part of the affected leg was found; in another three infants, necrotic tissue was noted in the stump of the affected leg. This type of lesion can be explained only on a vascular ischemic basis. In five cases, signs of compression of the external iliac artery by the grossly distended bladder, by grossly distended ureters, or both were found. A vascular disruption in the territory of the external iliac artery caused by compression by the distended urinary tract is the proposed mechanism for the associated limb deficiency.
The objective of this study was to determine the rate of intra-amniotic infection in patients with meconium-stained amniotic fluid compared to controls. With a retrospective case-controlled study design, we compared 100 pregnant women with meconium to 100 pregnant women without meconium for the development of intra-amniotic infection. Patients delivered between September 1 and December 31, 1990. Exclusion criteria were active infection prior to labor or antibiotic use within the 7 days prior to delivery. We diagnosed clinical intra-amniotic infection in patients with ruptured membranes by a maternal temperature 100.4 degrees F or higher and any two of the following: maternal or fetal tachycardia, uterine tenderness, white blood cell count 10,500 mm3 or more, or foul-smelling amniotic fluid. Demographic variables, labor characteristics, maternal infectious morbidity, and neonatal outcome were analyzed using the Wilcoxin rank test, chi-square test, or Fisher's exact test as appropriate. The rate of clinical intra-amniotic infection was significantly higher in women with meconium-stained amniotic fluid (8%) compared with women with no meconium (2%) (p = 0.05).
We report a case of disseminated herpes zoster in a pregnant patient positive for the human immunodeficiency virus (HIV). Disseminated zoster was the first manifestation of HIV infection in this patient. In HIV-positive patients, zoster may be complicated by cutaneous dissemination, visceral involvement, and death. Intravenous acyclovir may prevent serious sequelae in both mother and fetus.
Rett syndrome is a common developmental-neurologic disorder that has been reported almost exclusively in females. Recent work has improved recognition of this condition and helped to clarify the management of this disorder for affected individuals. The primary-care physician can become a major source of support and advocacy for the family of a girl with Rett syndrome. Many other resources are available to the primary care giver and the families of children with Rett syndrome; these may help to provide early diagnosis, psychological support, and preventive medical care for these individuals. The current state of knowledge regarding Rett syndrome is reviewed and a framework is provided for medical and developmental interventions.
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