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Biomedical subjects

L Schut

Publications and source records attributed to L Schut.

At least 91 records · Page 5Linked to original sources
PubMed1987

Spinocerebellar ataxia: localization of an autosomal dominant locus between two markers on human chromosome 6.

Inherited spinocerebellar ataxias (SCA) are progressively degenerative neurological diseases. The primary site of degeneration is the cerebellar cortex--in particular, the Purkinje cells. In the present report, the SCA locus, inherited as an autosomal dominant trait in a large kindred, is localized to a region approximately 15 centimorgans telomeric of HLA-A on the short arm of chromosome 6.

Chromosome Mapping↗
PubMed1987

Craniosynostosis: an analysis of the timing, treatment, and complications in 164 consecutive patients.

Treatment options for the craniosynostoses vary from conservative observation until completion of growth to radical remodeling in infancy. To further define the timing and type of treatment necessary in these complex disorders, we have retrospectively analyzed all patients operated on for this deformity during the past 12 years. One-hundred and sixty-four patients with craniosynostosis were analyzed and subgrouped into asymmetrical (predominantly unilateral) and symmetrical (bilateral) deformities, in addition to segregation by age and type of procedure performed. This was done recognizing that no deformity, like no normal human face, is truly symmetrical. Results of treatment were categorized on the basis of the need for additional surgery and varied from no refinements necessary (category I) to major reduplication of the initial procedure (category IV). Analysis of the data led us to conclude that excellent results can be expected in the asymmetrical deformities group treated in infancy by a unilateral approach. Similarly, for the mild symmetrical deformities, treatment at this time by bilateral orbital advancement gives satisfactory results in the majority of patients. By contrast, the more severe symmetrical groups treated in childhood have a high incidence of requiring secondary major reconstructions, and consideration should be given to delaying craniofacial surgery until age 7 or older, although earlier cranial surgery may be advisable.

Age Factors↗
PubMed1987

Neurosurgical considerations in cranio-orbital surgery.

The neurosurgeon is an integral member of the craniofacial team. The role of the neurosurgeon in the preoperative planning, intraoperative management, and postoperative follow-up of patients with craniofacial malformations is reviewed.

Brain↗
PubMed1986

Management of trigonocephaly.

Trigonocephaly, resulting from premature fusion of the metopic suture, is one of the least common forms of craniosynostosis referred to our institution. We describe a method of treating this condition that has been satisfactory in our hands. A bicoronal scalp flap is reflected down to the glabella and supraorbital ridges and a "gull-wing" bone flap is then formed in the frontal region, hinged forward on the metopic ridge. The midline strut in the area of the fused metopic suture is then burred down using a high-speed drill, but is not removed. We feel that this method results in an excellent immediate cosmetic result and is technically easier then the morselization procedures which have previously been described. We have found this to give a satisfactory result in 13 patients who underwent this procedure.

Congenital Abnormalities↗
PubMed1986

Magnetic resonance imaging of spinal cord disease of childhood.

Correct diagnosis of spinal cord disease in childhood is often delayed, resulting in irreversible neurologic deficits. A major reason for this delay is the lack of a reliable means to noninvasively visualize the spinal cord. Magnetic resonance imaging (MRI) should be useful in the evaluation of diseases of the spinal cord. A 1.5 Tesla MRI unit with a surface coil was used to study 41 children, including eight patients with intrinsic spinal cord lesions, eight patients with masses compressing the cord, 12 patients with congenital anomalies of the cord or surrounding bony structures, three patients with syrinxes, and three patients with vertebral body abnormalities. Intrinsic lesions of the cord were well seen in all cases as intrinsic irregularly widened, abnormally intense cord regions. MRI was helpful in following the course of disease in patients with primary spinal cord tumors. Areas of tumor were separable from syrinx cavities. Extrinsic lesions compressing the cord and vertebral body disease were also well visualized. Congenital anomalies of the spinal cord, including tethering and lipomatous tissue, were better seen on MRI than by any other radiographic technique. MRI is an excellent noninvasive "screening" technique for children with suspected spinal cord disease and may be the only study needed in many patients with congenital spinal cord anomalies. It is also an excellent means to diagnose and follow patients with other forms of intra- and extraspinal pathology.

Adolescent↗
PubMed1985

Oligodendroglioma of the posterior fossa in childhood.

Oligodendrogliomas are uncommon intracranial tumors of childhood, especially when these tumors arise in the posterior fossa. Oligodendrogliomas are usually treated with local radiation therapy. The authors report four children, median age 7.5 years, cared for over a 7-year period, who had oligodendrogliomas (all histologically malignant) of the cerebellar region. Three patients received local radiation therapy and all had recurrent disease at a median of 11 months posttreatment outside their radiation field; at the time of relapse, disease at the primary tumor site was stable. One child treated with craniospinal and local radiation therapy is disease-free 15 months after diagnosis. These results suggest that oligodendrogliomas of the posterior fossa should be considered potentially malignant lesions and treated with local plus presymptomatic craniospinal radiation therapy.

Adolescent↗
PubMed1985

Leptomeningeal dissemination of primary central nervous system tumors of childhood.

Presymptomatic craniospinal radiation therapy improves the rate of survival for children with brain tumors, which frequently metastasize to the leptomeninges. Radiotherapy may cause neurological damage and should be used only in patients considered to be at highest risk for leptomeningeal dissemination (LMS) at either the time of initial diagnosis or onset of disease relapse. We reviewed 314 consecutive patients with brain tumors to determine the incidence, timing, and importance of LMS. LMS occurred in 60 (19%) children. LMS occurred before diagnosis in 30 patients, as the only site of relapse or simultaneously with local first disease recurrence in 17 patients, and after local disease recurrence in 13 patients. Children with primitive neuroectodermal tumors, anaplastic gliomas, and ependymomas most frequently had LMS. Patients with primitive neuroectodermal tumors and posterior fossa anaplastic gliomas frequently had LMS before diagnosis or at the onset of relapse, whereas patients with ependymomas had LMS after local disease relapse. Both myelography and cerebrospinal fluid cytological examination are required to diagnose LMS.

Arachnoid↗
PubMed1985

Brainstem gliomas of childhood: magnetic resonance imaging.

We compared magnetic resonance imaging (MRI) and CT on 16 children with brainstem gliomas. MRI demonstrated masses of decreased signal intensity, which enlarged and distorted brainstems in all patients with active disease and showed brainstem abnormalities in 21 of 23 studies (91%). In one-half of the patients, MRI showed more extensive disease than did CT. Exophytic portions of tumors were shown well on MRI. MRI was more sensitive than CT in demonstrating disease relapse.

Adolescent↗
PubMed1985

Discrepancy between computed tomography and magnetic resonance imaging in a case of medulloblastoma.

In a 2-year-old girl with signs and symptoms of a posterior fossa tumor, the computed tomographic scan showed what appeared to be a brain stem glioma. However, magnetic resonance imaging (MRI) demonstrated the lesion to be extrinsic to the brain stem. Posterior fossa exploration disclosed a medulloblastoma filling the 4th ventricle. This discrepancy in imaging techniques points out the usefulness of MRI in the evaluation and treatment of posterior fossa lesions.

Brain Stem↗
PubMed1985

Magnetic resonance imaging of lesions of the posterior fossa and upper cervical cord in childhood.

Magnetic resonance imaging (MRI) promises to be an effective, noninvasive means of visualizing intracranial pathology. It should be especially useful in the evaluation of posterior fossa and cervical spinal cord disease of childhood; computed tomographic (CT) evaluation is frequently suboptimal in this region. MRI results are reported for 46 consecutively seen children with posterior fossa and/or cervical spinal cord disease (28 had brain malignancies; seven had congenital anomalies; three had cerebrovascular accidents). MRI was performed primarily by the partial saturation on a .12 Tesla resistive proton unit. All patients underwent concurrent CT evaluation. MRI demonstrated abnormalities in 96% of scans in patients with structural CNS disease (48 of 50). CNS malignancies were visualized in 100% (28 of 28) of children studied. MRI was especially useful in demonstrating the full extent of infiltrating gliomas and the anatomic location of other mass lesions. MRI frequently demonstrated disease to be more extensive than seen on CT. MRI was more sensitive than CT in documenting response to treatment and disease relapse in patients with infiltrating tumors. Cystic regions within tumors were poorly seen on MRI. Congenital anomalies were demonstrated in all patients evaluated and were better delineated using MRI than CT. MRI is sensitive in the evaluation of posterior fossa and cervical spinal cord disease of childhood and it has obvious advantages over CT; however, its specificity in such evaluations has yet to be proven.

Brain↗
PubMed1984

Intracranial embryonal cell carcinoma.

Intracranial embryonal cell carcinoma (ECC) is a germ cell tumor most frequently found in the pineal region. However, little is known about the incidence, pattern of growth, or response to treatment of ECC. Between 1975 and 1983, 16 consecutive patients younger than age 18 with tumors of the pineal region have had biopsies performed prior to treatment, and 5 (31%) have had primary intracranial ECC. One other child had ECC in the suprasellar region. The clinical, radiographic, and histologic features of the six patients with ECC are presented and contrasted with the findings in children with other pineal region neoplasms. Pathologic confirmation is necessary to distinguish ECC from other intracranial tumors. Three patients were treated with radiation therapy (RT) plus adjuvant chemotherapy; two patients were treated with chemotherapy followed by RT; and one was treated with RT only. All patients initially responded to therapy, but only one has survived for longer than 1 year. It is concluded that biopsy is necessary for the diagnosis of ECC; that ECC is more common than currently believed; and that current treatment for intracranial ECC is unsatisfactory. Biopsy of pineal region tumors is necessary if progress is to be made in their management.

Adolescent↗
PubMed1984

The pathogenesis of progressive cavitation of the spinal cord.

It has been suggested that the pathogenesis of cord cavitation is multifactorial, but that there may be a common mechanism, if not for their actual cause then at least for the increase in size. A case is discussed in which the location of the cavitation suggested the cause was chronic ischemia of vascular origin.

Child, Preschool↗
PubMed1984

Re-operation for recurrent brain tumors in children.

In order to determine the efficacy of re-operating on recurrent brain tumors, we did a retrospective analysis of 39 children who underwent such surgery between 1975 and the present. A total of 52 procedures was performed for recurrence of both benign and malignant tumors. 9 patients are neurologically normal and 12 are independent but left with some sort of neurologic deficit for an average of 31 months and 32 months, respectively, postoperatively. 1 child presented severely handicapped and remains so 18 months after his most recent surgery. 17 patients died. 11 improved after re-operation and lived an average of 12 months. 4 were unimproved with an average survival of 10 months. There were 2 surgical deaths for an operative mortality of 4%. We feel that re-operation is a useful therapy for both benign and malignant recurrent brain tumors, and prolongs both the quantity and quality of life in appropriately selected patients.

Astrocytoma↗
PubMed1984

Prognostic importance of cellular differentiation in medulloblastoma of childhood.

Medulloblastoma is the most common intracranial primitive neuroectodermal malignancy of childhood. Certain parameters are predictive of survival in children with medulloblastoma; however, tumor histology is of unclear prognostic value. A classification system, proposed by Rorke for all central nervous system (CNS) neoplasms composed of primitive neuroepithelial cells, was utilized in a review of 38 consecutive patients with newly diagnosed medulloblastoma. The classification is based on the concept that medulloblastoma is not unique to the cerebellum but is similar to tumors that may arise elsewhere in the CNS consequent to neoplastic transformation of primitive neuroepithelial cells. Cells forming the tumors may remain in the undifferentiated state or they may exhibit differentiation along glial, and/or ependymal, and/or neuronal lines. For purposes of simplification, the cases were divided into two major groups: those primitive neuroectodermal tumors (PNET's) which showed no evidence of cellular differentiation (PNET-U) and those that were differentiated (PNET-D). There were 20 cases in the PNET-U group and 18 in the PNET-D group. The 4-year survival rate was 70% for PNET-U, compared to 32% for PNET-D (p = 0.004). Only one of 10 children with PNET-D with differentiation along more than one cell line survived. Other factors, including age at diagnosis, tumor metastasis (TM) stage, and extent of surgical resection, were analyzed and were of prognostic importance; but histological features remained statistically significant within each subgroup.

Adolescent↗
PubMed1984

Brain and cervical spine injuries occurring during organized sports activities in children and adolescents.

Eighty per cent of severe sports-related central nervous system trauma occurs as a result of collision sports, chiefly American football and rugby union football, followed by wrestling and gymnastics. Although serious head injury is uncommon, episodes of concussion are frequent; repeated concussion should be grounds for suggesting that the athlete give up collision sport. American and rugby union football are the sports mainly responsible for cervical spine injury with resultant quadriplegia.

Adolescent↗