Surgery for moyamoya syndrome? Yes.
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Brain↗
Biomedical subjects
R M Scott
Publications and source records attributed to R M Scott.
De novo translocation (8;12) and frontofacionasal dysplasia in a newborn boy.
We describe a newborn boy one of triplets, whose karyotype was 46,XY, t(8;12)(q22;q21). Prenatal diagnosis of multiple craniofacial anomalies had been made. Following delivery, the patient was thought to exhibit findings consistent with a diagnosis of frontofacionasal dysostosis. We hypothesize that one of the break points of this translocation may involve a gene essential to craniofacial development.
Chromosomes, Human, Pair 12↗
Neurological dysfunction associated with postoperative cerebellar mutism.
BACKGROUND AND OBJECTIVES: The postoperative cerebellar mutism syndrome (CMS) is an unique acute postoperative complication characterized by transient decrease in speech output (often mutism), apathy, irritability as well as global cerebellar dysfunction. As much as 25% of patients undergoing a resection of a cerebellar or IV ventricular tumor may develop such a syndrome. In this retrospective study we characterize the clinical features of the CMS and explore potential etiologic mechanisms. METHODS: We conducted a retrospective analysis of medical records and imaging tests of 8 consecutive patients with the CMS identified through the database of the Children's Hospital and Dana-Farber Cancer Institute, Boston, and compared with a control group of 8 unaffected children undergoing a comparable tumor resection. RESULTS: In contrast to the control group, children in the affected group had marked decrease in speech output and comprehension, apathy and lack of initiative, inattention, persistent eye closure, flaccid hemiparesis and a severe global cerebellar dysfunction. Swallowing difficulties and bowel and bladder dysfunction were also observed. The median duration of the syndrome as judged by the persistence of the communication abnormalities was 4 weeks. The recovery was near complete with exception for a persistent global cerebellar dysfunction. A comparison of CT and MRI scans of children in both groups failed to identify distinguishing features. CONCLUSION: A surgical lesion of the midline cerebellum can cause a complex neurological dysfunction such as the CMS. Thus, we postulate that the cerebellum and its connections function as a 'modulatory system' in control of both motor and non-motor functions, including attention and language.
Akinetic Mutism↗
The effect of surgery for split spinal cord malformation on neurologic and urologic function.
The split spinal cord malformation (SSCM) is an occult spinal dysraphism which causes tethering of the spinal cord. We performed a retrospective analysis of 15 patients who had split cord malformations (without associated open neural tube defect) who underwent both pre- and postoperative urodynamic studies (UDS) in order to determine if a significant percentage of these patients, even in the absence of overt urologic symptoms, had evidence of urologic dysfunction. Eleven patients presenting in early childhood and 4 patients presenting later in life are reviewed. Despite the lack of preoperative urologic symptoms in almost all patients, 73% of patients had voiding abnormalities on formal testing. UDS on these patients before and after surgery was a useful adjunct to perioperative management and decision making, helped define the success of surgery, and gave objective information for cases in which retethering was suspected.
Adolescent↗
The Department of Defense laboratory-based global influenza surveillance system.
Military global influenza surveillance began in 1976 as an Air Force program. In 1997, the Department of Defense (DoD) Global Emerging Infections Surveillance and Response System expanded the program to include all services. Also included were local residents in areas where DoD overseas research activities operated. This new, worldwide DoD surveillance infrastructure provides valuable information and can respond quickly to outbreaks. This was demonstrated during the current influenza season when a suspected outbreak was reported in Panama. In less than 3 weeks, specimens were collected, transported, and cultured, and isolates were subtyped and sent to the Centers for Disease Control and Prevention for further studies. This influenza surveillance initiative combines viral isolation, antigenic characterization, and molecular sequencing with clinical and public health management of information. The information obtained is shared with the Centers for Disease Control and Prevention and the World Health Organization and has contributed to important decisions in influenza vaccine composition.
Global Health↗
Moyamoya syndrome: a surgically treatable cause of stroke in the pediatric patient.
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Child↗
Cervicomedullary astrocytomas of childhood: clinical and imaging follow-up.
UNLABELLED: BACKGROUND. Cervicomedullary astrocytomas are a unique subset of brainstem tumors in children because they have a good prognosis when compared to the pontine subset of brainstem gliomas. Objective. To review the clinical and imaging findings in a series of children with cervicomedullary astrocytomas as to diagnosis and management. MATERIALS AND METHODS: A retrospective review of eleven children (six females, five males, age range: 10 days-18 years; mean = 7 years) with cervicomedullary tumors was done including the clinical presentation, imaging studies (MR: eleven, CT and MR: four), surgical findings, pathological results, and follow-up clinical and imaging findings (range: 0.2-11 years; mean = 5.2 years). RESULTS: Symptoms and signs were delayed and protracted, often occurring over months to years (mean = 2.3 years, range 0.5-7 years). The tumors expanded the dorsal medulla and involved the upper cervical spinal cord (mean maximum tumor diameter = 4.4 cm). Only three patients had hydrocephalus. In three of four cases the tumor was not seen on CT. On MR, the majority of the tumors were T1 hypointense and T2 hyperintense. Treatment consisted of surgery only in six patients, surgery and radiation therapy in four, and surgery, chemotherapy, and radiation in one. There was recurrent local disease in four patients and on follow-up metastatic disease in the brain in one. On follow-up the majority of the patients are alive and stable (mean = 5.2 years, range 0.2-11 years). There has been one death. The majority of tumors were pilocytic astrocytomas. CONCLUSION: Cervicomedullary tumors are a unique subset of brainstem gliomas in childhood that present with a long duration of symptoms and a greater long-term survival than pontine gliomas.
Adolescent↗
Biotechnology is booming in Washington State.
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Biotechnology↗
Persistent high risk of diarrhea among foreigners in Nepal during the first 2 years of residence.
Although numerous studies have shown that diarrhea is the most common illness occurring during the first few weeks of travel, systematic studies of the incidence of diarrhea during long-term residence in developing countries have not been performed. We conducted a cohort study of the incidence and etiology of diarrhea among 77 expatriate adults who had lived in Nepal for <2 years. Persons were followed prospectively for up to 1 year (mean, 9 months). The incidence of diarrhea during the surveillance period was 3.3 episodes of diarrhea per person per year, or 0.27 episodes per person per month. The annual attack rate of specific pathogens was 42% for enterotoxigenic Escherichia coli, 32% for Cyclospora species, 16% for Giardia lamblia, 16% for Shigella species, 10% for Campylobacter species, > or =10% for rotavirus, and 6% for Entamoeba histolytica. This study suggests that adult persons from developed countries who move to developing countries such as Nepal remain at high risk for diarrhea during their first 2 years of residence.
Adolescent↗
Analysis of posterior plagiocephaly: deformational versus synostotic.
Appropriate management of posterior plagiocephaly requires differentiation of occipitoparietal flattening caused by lambdoid synostosis from that caused by deformational forces. In a 2 1/2-year prospective study of 115 infants presenting with unilateral posterior cranial flattening, only one child had synostotic posterior plagiocephaly (lambdoid synostosis), whereas 114 infants had deformational posterior plagiocephaly. Deformational occipitoparietal flattening was more common on the right (61 percent) than on the left (30 percent), and minor contralateral frontal flattening was not unusual (52 percent). The ipsilateral ear was anteriorly displaced in virtually all infants (97 percent). Some infants had ipsilateral torticollis (19 percent); a few had contralateral torticollis (8 percent). Gender ratio was 3:1, male:female. A total of 114 infants with deformational posterior plagiocephaly were treated conservatively either by head positioning in the crib (n = 63) or with a molding helmet (n = 51). Outcome was assessed by pretreatment and posttreatment anthropometry on 53 of these infants, who were either positioned (n = 17) or helmeted (n = 36). Improvement occurred in 52 of 53 patients (mean follow-up 4.6 months), i.e., the difference in length between the long and short transcranial axis diminished in 52 infants (mean 1.2 to 0.7 cm), did not progress in any child, and was unchanged in one infant. At an average age of 10 months, posterior cranial symmetry was better in infants treated with a helmet (mean difference 0.6 cm) than in those managed by positioning (mean difference 1.0 cm) (p < 0.001). Age at initiation of helmet therapy (from 2 to 9 months) was unrelated to rate of improvement. In a 10-year retrospective study, the authors identified 12 infants who had an operation for posterior plagiocephaly. All but one had confirmed premature lambdoid fusion; thus, this condition accounted for 3.4 percent of all primary operations performed for craniosynostosis during this decade (n = 323). In retrospect, the physical findings of synostotic posterior plagiocephaly were not clearly different from those of deformational posterior plagiocephaly. Plain radiography was sometimes used to confirm the clinical diagnosis. Neither sutural narrowing, deep interdigitations, nor perisutural sclerosis indicated lambdoid synostosis. Computed tomography (CT) was necessary if the physical findings were suspicious for lambdoid synostosis or if plain films did not give a definitive diagnosis. Axial CT scans (n = 7) showed a symmetric forehead in all but one patient with lambdoid synostosis. CT studies also demonstrated that auricular position was indeterminate in synostotic posterior plagiocephaly, being anterior, posterior, or symmetric, whereas the ipsilateral ear was virtually always anterior in deformational posterior plagiocephaly.
Craniosynostoses↗
Spontaneous thrombosis of vein of Galen aneurysmal malformation.
Two cases of aneurysmal malformations of the vein of Galen (AVG) with spontaneous thrombosis are reported. Angiogram and MRI before thrombosis demonstrated AVGs with slow arteriovenous shunts and associated stagnation of contrast in the venous sac secondary to severe outflow restriction. Based on these findings, one patient was managed conservatively, and the other underwent placement of a ventriculoperitoneal shunt. Surveillance of the lesions with subsequent MRIs revealed spontaneous thrombosis of the AVGs with excellent clinical outcomes. Proposed mechanisms of spontaneous thrombosis include slow flow shunts, obstruction of the venous outflow or obstruction of the feeding artery. Similar cases in the literature are reviewed with special emphasis on diagnostic tests, symptomatology, mechanisms of thrombosis and therapeutic options.
Central Nervous System Vascular Malformations↗
The socioeconomic impact of hepatitis E in Nepal.
Hepatitis E disease is responsible for substantial morbidity in Nepal. A socioeconomic analysis was performed to describe the costs and the effects of hepatitis E disease (HE) on health status in a Nepalese population living in the Kathmandu Valley. A modified health status index was used to quantify healthy days lost associated with HE. One hundred thirty-four individuals recently recovered from HE were interviewed in June 1998. The median age was 22 years and 60% were female. Study participants were sick and bedridden for a median of 22 and 10 days, respectively. The median healthy days lost per individual was 35 (768,000 total per region). The median cost of illness per individual, including direct and indirect, was $37 ($1,238,676 total per region). The percentage of yearly income lost for wage earners totaled 19.4%. Hepatitis E disease is associated with significant costs and loss of healthy days in Nepal. Further research is warranted to understand and limit this common disease.
Adolescent↗
Management of cavernous malformations in the pediatric population.
The management of cavernous malformations (CMs) in a child is similar in many ways to that of CMs in an adult. There are specific general principles that need to be considered when approaching these lesions in children, however. The long life span anticipated in the pediatric patient may favor an aggressive surgical approach for single, small asymptomatic cavernous malformations or for certain symptomatic lesions in eloquent locations. The observed history of a given malformation may be the best guide to determine its treatment. The authors discuss some of these principles and review their experience with a series of children who have presented for management of cerebral CM.
Adolescent↗
Neurologic complications of cerebral angiography in childhood moyamoya syndrome.
Purpose. To determine the incidence of neurologic complications of cerebral angiography in children with moyamoya syndrome (MMS) as compared to children without MMS. Materials and methods. One-hundred-ninety consecutive cerebral angiograms obtained in 152 children were evaluated. Sixty of these angiograms were obtained in 40 children with MMS. Patients underwent neurologic evaluation prior to and after the procedure. For this study, a neurologic complication was defined as any new focal neurologic deficit or alteration in mental status occurring during the procedure or within the ensuing 24 hours. Results. There were 2 neurologic complications within 24 hours of angiography, one in the MMS group and one in the non-MMS group. One patient with MMS became mute following angiography. The symptom resolved within 12 hours. One patient without MMS being examined postoperatively for residual arteriovenous malformation developed intracranial hemorrhage requiring reexploration 12 hours after the angiogram. Using a two-tail Fisher's exact test, there was no significant statistical difference in the ischemic (P = 0.3) or hemorrhagic (P = 1.0) complication rates between the group of patients with MMS and the non-MMS groups. Conclusion. The risk of a neurologic complication from cerebral angiography in children with MMS is low and not statistically different from the risk in children with other cerebrovascular disorders.
Adolescent↗
Shunts: which one, and why?
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Equipment Design↗
Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27.
Cerebral cavernous malformation (CCM) is a Mendelian model of stroke, characterized by focal abnormalities in small intracranial blood vessels leading to hemorrhage and consequent strokes and/or seizures. A significant fraction of cases is inherited as an autosomal dominant trait with incomplete penetrance. Among Hispanic Americans, virtually all CCM is attributable to a founder mutation localized to 7q ( CCM1 ). Recent analysis of non-Hispanic Caucasian kindreds, however, has excluded linkage to 7q in some, indicating at least one additional CCM locus. We now report analysis of linkage in 20 non-Hispanic Caucasian kindreds with familial CCM. In addition to linkage to CCM1, analysis of linkage demonstrates linkage to two new loci, CCM2 at 7p13-15 and CCM3 at 3q25.2-27. Multilocus analysis yields a maximum lod score of 14.11, with 40% of kindreds linked to CCM1, 20% linked to CCM2 and 40% linked to CCM3, with highly significant evidence for linkage to three loci (linkage to three loci supported with an odds ratio of 2.6 x 10(5):1 over linkage to two loci and 1.6 x 10(9):1 over linkage to one locus). Multipoint analysis among families with high posterior probabilities of linkage to each locus refines the locations of CCM2 and CCM3 to approximately 22 cM intervals. Linkage to these three loci can account for inheritance of CCM in all kindreds studied. Significant locus-specific differences in penetrance are identified. These findings have implications for genetic testing of this disorder and represent an important step toward identification of the molecular basis of this disease.
Cerebrovascular Disorders↗