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Biomedical subjects

B N French

Publications and source records attributed to B N French.

At least 19 recordsLinked to original sources
PubMed1994

Clinical, cytogenetic, and molecular characterization of seven patients with deletions of chromosome 22q13.3.

We have studied seven patients who have chromosome 22q13.3 deletions as revealed by high-resolution cytogenetic analysis. Clinical evaluation of the patients revealed a common phenotype that includes generalized developmental delay, normal or accelerated growth, hypotonia, severe delays in expressive speech, and mild facial dysmorphic features. Dosage analysis using a series of genetically mapped probes showed that the proximal breakpoints of the deletions varied over approximately 13.8 cM, between loci D22S92 and D22S94. The most distally mapped locus, arylsulfatase A (ARSA), was deleted in all seven patients. Therefore, the smallest region of overlap (critical region) extends between locus D22S94 and a region distal to ARSA, a distance of > 25.5 cM.

Abnormalities, Multiple↗
PubMed1992

Evaluation of the Health Belief Model and decision making regarding amniocentesis in women of advanced maternal age.

The Health Belief Model (HBM) was developed as an attempt to explain an individual's decision regarding obtaining preventive health care. This model was applied to predict the decisions of women of advanced maternal age regarding their obtaining amniocentesis in a one-year study conducted in Toledo, Ohio. A questionnaire based on the HBM was administered to a sample of 98 pregnant women of advanced maternal age. A total of 96 questionnaires were eligible for inclusion in the study. Sixty-one women reported that they would have amniocentesis, 22 would not, and 13 were unsure. A multivariate analysis of variance among amniocentesis decision groups was performed using the health belief components (perceived susceptibility, perceived seriousness, perceived benefit, perceived barrier) and knowledge as variables. There was a significant difference (Wilks' criterion, p less than .0001) among the three decision groups, but the differences were in the health belief components and not in knowledge. A stepwise discriminant function analysis was used to classify subjects on the amniocentesis decision. Of the variables examined, only the HBM component perceived benefit factor was a significant discriminant (p = .0001). It is not necessarily the lack of knowledge that prevents women who are at risk because of advanced maternal age from having amniocentesis but their perceptions regarding amniocentesis. Genetic counselors need to focus more on exploring the perceptions of amniocentesis benefits in this population to facilitate the decision making process.

Adult↗
PubMed1989

Expanding the phenotype of the Proteus syndrome: a severely affected patient with new findings.

Here we report on a boy who died at 16 1/2 months with hemihypertrophy, eye abnormalities, macrodactyly, hamartomas, pigmented nevi, cerebral involvement, and other anomalies compatible with the Proteus syndrome. In addition, he also had abnormalities previously unreported in the Proteus syndrome including craniosynostosis and complex congenital heart defects. He seems to represent an extremely severe form of the Proteus syndrome and expands the already broad range of the phenotype.

Abnormalities, Multiple↗
PubMed1986

Traumatic hematomas of the posterior fossa. A clinicopathological spectrum.

Eight patients were found to have traumatic hematomas of the posterior fossa during a 6-year period. There were four patients with extradural hematomas, one patient with a subdural hematoma, and four patients with intracerebellar hematomas. In one patient, clinically significant hematomas were found both in the extradural space and in the cerebellum. Clinical or radiologic evidence of skull fracture was present in each case, and computed tomography scans were diagnostic of a posterior fossa hematoma in all cases. In six of the eight patients, there was clinical deterioration prior to surgical treatment, and in three cases, this was abrupt. All patients underwent suboccipital craniectomy. Six patients survived; four made a good recovery. Our experience indicates that early operation is usually indicated for these lesions.

Adolescent↗
PubMed1984

Intrathecal morphine for pelvic and sacral pain caused by cancer.

Ten patients underwent placement of a lumbar subarachnoid catheter attached to a subcutaneous reservoir allowing daily injection of intrathecal morphine sulfate by family members. Sacral and pelvic pain were fairly well controlled. Neck and leg pain and pain mediated by the celiac plexus were not as well controlled by the intrathecal injection of morphine. The only significant complication was collection of cerebrospinal fluid around three reservoirs. Using this technique, narcotic concentration and frequency of administration can be easily altered to provide a safe but effective dose. Lumbar administration appears to block pain from lumbar and sacral dermatomes without the sedating and mood-altering effects of systemic narcotics.

Adult↗
PubMed1983

The embryology of spinal dysraphism.

The theories of abnormal embryogenesis suggested as explanations for the various forms of SBA and occult spinal dysraphism appear in some instances too all encompassing, as in Gardner's hydrodynamic theory or Padget's neuroschisis theory, or too limited, as in the theory of arrested development proposed by Daniel and Strich for the ACM, or just too speculative in many cases. The observation of a completed defect does not allow one to venture backwards in development to a specific time and cause with any accuracy. Perhaps several different causes striking different tissues at different times can set up a series of aberrations that lead to morphologically similar mature anomalies. The ability of developmental processes to heal themselves, as shown experimentally, may obscure the true mechanism and timing of occurrence although the final morphological expression may be dramatic. Since the study of human embryogenesis in the experimental laboratory is ethically unacceptable although technically feasible, the elucidation of the mechanisms of these neural defects will be long in coming.

Arnold-Chiari Malformation↗
PubMed1983

CAT scans: what do they tell us?

The CAT Scan is capable of providing a diagnosis in many cases. It has an overall accuracy rate of 95 to 98 percent for diagnosis of a lesion versus no lesion. The CAT scanner has proven to be the single most important advance in neuroradiology in recent years. It is the least traumatic, the safest, and most definitive of the neurological procedures.

Brain↗
PubMed1981

Cranial computed tomography in the diagnosis of symptomatic indirect trauma to the carotid artery.

Five patients who were involved in motor vehicle accidents sustained indirect, nonpenetrating carotid artery injuries leading to cerebral infarction. Four patients were conscious when a severe lateralized neurological deficit developed three to 12 hours after injury indicating the presence of a vascular injury and not a mass lesion. In 3 patients with occlusion of the main stem middle cerebral artery, computed tomographic (CT) scans performed between 1 and 7 hours after the onset of the ischemic signs were normal, but all scans performed after 11 or more hours revealed progressive edema in a vascular distribution leading to a midline shift. The fifth patient had a severe diffuse brain injury and no apparent clinical pattern of a posttraumatic vascular complication. Sequential changes on the CT scans similar to those of the other patients led to the proper diagnosis of vascular injury; this was later confirmed by arteriography. Indirect, nonpenetrating injury to the carotid artery should be suspected in the presence of the typical clinical pattern or when serial CT scans show the evolution of progressive edema in a distribution atypical for traumatic contusion.

Adult↗
PubMed1981

Intracranial hemorrhage in children with idiopathic thrombocytopenic purpura.

Intracranial hemorrhage is a rare but life-threatening complication of childhood idiopathic thrombocytopenic purpura. We present three cases of this complication encountered at our institution, in addition to a tabulation of 15 previously reported cases. Prevention, diagnosis, and management of intracranial hemorrhage in idiopathic thrombocytopenic purpura are discussed. The importance of avoidance of antiplatelet drugs as well as the significance of the location of the intracranial hemorrhage are emphasized. Posterior fossa hemorrhages are especially dangerous because of the possibility of rapid cerebellar herniation and brainstem compression. Management of intracranial hemorrhage should be prompt and aggressive, and splenectomy should always be performed prior to any neurosurgical procedure. It is encouraging that 11 of 18 patients had a favorable outcome.

Adolescent↗
PubMed1980

Diagnostic image evaluation of hydranencephaly and pictorially similar entities, with emphasis on computed tomography.

The radiographic evaluation of a spectrum of vascular cerebral damage is presented, ranging from simple porencephaly to the most severe form, classic hydranencephaly. With a combination of clinical materal and computed tomography, it is possible in most cases to arrive at a specific diagnosis of hydranencephaly or severe bilateral porencephaly. Pictorially similar entities, such as massive congenital subdural hematomas or hygromas, alobar holoprosencephaly, massive hydrocephalus, and massive postanoxic or infective encephalopathies, are discussed.

Anencephaly↗
PubMed1980

Cerebral aneurysmal rupture during angiography with confirmation by computed tomography: a review of intra-angiographic aneurysmal rupture.

Rupture of a cerebral aneurysm during angiography, with confirmation by computed tomography (CT), is described. A review of 30 additional reported cases demonstrates no unusual profiles, with the exception of the predominance of female patients (71%), and the presence of pre-angiographic arterial hypertension. Experimental and clinical evidence increasingly suggests that intravascular pressures are transiently elevated during cerebral angiography. These changes may be enhanced by increased flow rates of contrast media, smaller diameters of the catheters, and the presence of intracranial arterial spasm, the latter presenting as a very prominent feature in intra-angiographic arterial rupture. However, direct evidence of elevation of the intra-aneurysmal pressure has not been documented, and may have occurred in only a portion of the cases.

Adult↗
PubMed1980

Serial phrenic nerve conduction studies in candidates for diaphragm pacing.

Serial phrenic nerve conduction studies in 3 patients with high cervical cord injuries have demonstrated a pattern of function that changes with time. Nerves may be responsive initially and may then become unresponsive only to have responses reappear at a later date. Before a final decision is made about phrenic nerve viability prior to diaphragm pacing, serial studies should be carried out for at least 6 weeks postinjury on initially responsive nerves, and for at least 2 years postinjury on nonresponsive nerves or those with a changing functional pattern.

Adult↗
PubMed1978

Atlantoaxial malformation in a 46,XY, 17q+ child.

A child with 46,XY, 17q+ chromosome aberration and unusual skeletal abnormalities had the presenting symptom of respiratory arrest after a fall and minor head trauma. He exhibited proportionate short stature, peculiar facies with antimongoloid slant, simian creases, postaxial hexadactyly, metatarsus adductus deformity, and anomalous penoscrotal configuration. Delayed speech and mild mental retardation were also present. Atlantoaxial dislocation secondary to odontoid process hypoplasia was demonstrated. Additional skeletal abnormalities included dysplastic changes in the first and fourth metacarpals, the middle phalanx of the second finger, and hypoplasia of the first metatarsal, with medial insertion of the great toe. Treatment consisted of halo jacket cast and fusion of the occiput to C1, C2, and C3. Early detection and preventive surgery for atlantoaxial dislocation is necessary to prevent neurological deficit and possibly death by respiratory failure.

Axis, Cervical Vertebra↗
PubMed1978

Delayed evolution of posttraumatic subdural hygroma.

Five hundred and forty-six patients in a consecutive series of 1,601 patients with craniocerebral trauma had computed tomography. One hundred and ninety-six patients had a follow-up CT scan. Thirteen patients (6.6%) developed apparently "silent" subdural hygromas of delayed evolution noted from six to 46 days after injury (average 22 days). Three of 10 patients (30%) improved after operation. No patient with a severe cerebral deficit (decortication or decerebration) improved. The three unoperated hygromas and the six that persisted after operation tended to resolve spontaneously. The infrequent and modest improvement following surgical treatment and the tendency to spontaneous resolution suggest that operation may be unnecessary in many patients with posttraumatic subdural hygroma of delayed evolution.

Adolescent↗
PubMed1978

Phrenic nerve conduction studies in the evaluation of ventilatory problems in patients with cranio-cervical trauma.

Five patients with hypoventilation and paresis of the diaphragm following trauma to the cervical spinal cord, brain stem, or both, were evaluated with phrenic nerve conduction studies while being considered for implantation of a phrenic nerve stimulator. Several distinct patterns of phrenic nerve function were elicited in the various cases, allowing accurate predictions and management decisions to be made. Phrenic nerve conduction studies are felt to be a valuable diagnostic tool in the management of the hypoventilating patient with cranio-cervical trauma. The procedure is safe, rapid, and easily performed at the bedside.

Adult↗
PubMed1978

Limitations and pitfalls of computed tomography in the evaluation of craniocerebral injury.

The deficiencies of cranial computed tomography in the evaluation of craniocerebral injury may be categorized as: problems with the patient (cervical spine injury, motion artifact, airway control, head tilt, metallic foreign bodies); the incomplete scan; failure to determine the attenuation coefficient; failure to perform contrast enhancement; and failure to perform cerebral angiography. Increased awareness of these shortcomings of computed tomography and the selected use of cerebral angiography will ensure more accurate detection of the various abnormalities encountered in traumatic pathology.

Brain↗
PubMed1977

Computed tomography in head trauma.

Retrospective analysis of 200 cases of documented head trauma demonstrated an accuracy approaching 100% in the diagnosis of intra- and extracerebral collections of blood. Caution must be exercised in the evaluation of trauma 1 to 5 weeks old, since subdural hematomas have the same density as normal brain tissue, and angiography may be necessary. The clinical diagnosis of brainstem contusion is associated with a remarkably high level (54%) of surgically correctable lesions. The use of computed tomography in the evaluation of other traumatic intracranial lesions is discussed.

Brain Diseases↗