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277 records · Page 16Linked to original sources
PubMed2005

Reconstruction of a circular defect of the hypopharynx and cervical part of esophagus by a free jejunal flap (case report).

Patients with impaired continuity of the upper gastrointestinal tract are dependent on gastrostomy or jejunostomy tube feeds, which significantly reduce their quality of life. Reconstruction of the hypopharynx and esophagus is desirable in cases of congenital deformities, corrosive injuries, or defects after tumor resections. Free flap allows for easier reconstruction of head and neck defects. In this article, the authors present a case of complete hypopharynx closure in an oncology patient with a larynx carcinoma. The patient is a 60-year-old male diagnosed in 2002 with epidermoid carcinoma of larynx. The patient underwent laser resection of the tumor followed by radiotherapy and chemotherapy. In 2003 the patient underwent pharyngo - laryngectomy for relapse of the larynx carcinoma. Postoperatively the patient developed pharyngo - cutaneous fistula, which was reconstructed at the otorhinolaryngology department by a muscle - cutaneous flap from the pectoralis major muscle. During the course of healing the patient developed complete hypopharynx and cervical esophagus closure. Free flap of jejunum was recommended. The surgery team used a 10 cm long section of jejunum; the recipient blood vessels were arteria transversa colli and internal jugular vein. On the second day after the surgery patient developed salivary fistula in the wound. The fistula healed spontaneously in five weeks. Pharyngoscopy revealed that the transplanted jejunum was fully vital. Free flap of the jejunum allowed for upper gastrointestinal tract reconstruction and allowed the patient to restart peroral intake.

Carcinoma, Squamous Cell↗
PubMed1993

Duane's syndrome with giant aneurysm of the vertebral basilar arterial junction.

A 36-year-old man who had signs of Duane's syndrome since birth developed symptoms of a posterior fossa mass. Angiography revealed a giant aneurysm in the area of the vertebral basilar junction. The association of these two anomalies provides support for the vascular origin of some cases of Duane's syndrome due to vascular hypofunction during the 4th and 5th weeks of embryogenesis.

Adult↗
PubMed1996

Paroxysmal dystonic choreoathetosis: tight linkage to chromosome 2q.

Paroxysmal dystonic choreoathetosis (PDC) is characterized by attacks of involuntary movements that last up to several hours and occur at rest both spontaneously and following caffeine or alcohol consumption. We analyzed a Polish-American kindred with autosomal dominant PDC and identified tight linkage between the disorder and microsatellite markers on chromosome 2q (maximum two-point LOD score 4.77; recombination fraction 0). Our results clearly establish the existence of a locus for autosomal dominant PDC on distal chromosome 2q. The fact that three other paroxysmal neurological disorders (periodic ataxia with myokymia and hypo- and hyperkalemic periodic paralysis) are due to mutation in ion-channel genes raises the possibility that PDC is also due to an ion-channel gene mutation. It is noteworthy that a cluster of sodium-channel genes is located on distal chromosome 2q, near the PDC locus. Identifying the PDC locus on chromosome 2q will facilitate discovery of the PDC gene and enable investigators to determine whether PDC is genetically homogeneous and whether other paroxysmal movement disorders are also genetically linked to the PDC locus.

Athetosis↗
PubMed1996

Apolipoprotein E-epsilon4 alleles in cerebral amyloid angiopathy and cerebrovascular pathology associated with Alzheimer's disease.

The presence of apolipoprotein E-epsilon4 (APOE-epsilon4) allele has been implicated as a risk factor for Alzheimer's disease (AD). We examined the frequencies of APOE-epsilon4 alleles in age-matched controls and subgroups of 190 AD subjects exhibited cerebral amyloid angiopathy (CAA) and other frequently associated lesions. CAA was evident in 96% of the AD subjects, which were divided into two groups, one bearing mild or no apparent CAA and the other with moderate to severe CAA. APOE-epsilon4 allele frequency (48%) in the latter advanced CAA group was six times higher than in those who exhibited mild CAA. In the advanced CAA subjects, the occurrence of an epsilon4 allele was increased by a factor of 17 (95% confidence interval, 7.56 to 38.9). This was despite the fact that neocortical amyloid-beta plaque densities in the two groups were similar and that all of the AD subjects had met the accepted neuropathological criteria. We also observed that the degree of CAA severity was greatest in the group of subjects with the epsilon4/epsilon4 genotype. The association between CAA and APOE-epsilon4 was further implicated in two non-AD subjects among neurological controls with severe CAA. These two subjects, both homozygous for the APOE-epsilon4 allele, were primarily diagnosed as having Creutzfeldt-Jakob disease and Pick's disease in the absence of significant neocortical amyloid deposition. Allele frequency comparisons between neurological control subjects with CAA and those without likewise accorded a strong relationship between the APOE-epsilon4 allele and the presence of CAA. More remarkably, the epsilon4 allele frequency was highly associated with AD subjects exhibiting lobar or intracerebral hemorrhage, all of whom had advanced CAA. We observed that 36% of the AD subjects had concomitant cerebrovascular pathology resulting from single infarcts, multiple microinfarcts, ischemic white matter lesions, or petechial hemorrhages. Although the difference in APOE genotype distribution between subjects with and without cerebrovascular lesions did not reach statistical significance, we did note that the frequency of the epsilon4 allele was significantly higher in subjects with such pathology as compared with those without. However, we found no evidence to suggest that the acquisition of an APOE-epsilon4 allele or one of the alleles, epsilon2 or epsilon3, was a factor in the occurrence of atherosclerosis localized in the basal surface arteries. Analyses of our sample also confirm that there was a lower frequency of the APOE-epsilon2 allele in AD subjects and that the frequency of the epsilon4 allele in AD subjects with concomitant diffuse Lewy body disease was intermediate between controls and AD subjects. Our results suggest that the APOE-epsilon4 allele is a significant factor in the development of CAA in AD and reveal the possibility that APOE is an independent factor in CAA and other vascular abnormalities associated with AD.

Aged↗
PubMed1998

Sex and electroencephalographic synchronization after photic stimulation predict signal changes in the visual cortex on functional MR images.

PURPOSE: We evaluated factors that influence MR signal changes during photic stimulation of the visual cortex. We also tested the hypothesis that functional MR imaging response corresponds to electroencephalographic (EEG) synchronization after photic stimulation. METHODS: Thirty-eight healthy subjects, 20 men and 18 women, underwent photic stimulation of the visual cortex. They were studied with a 1.5-T MR unit, and photic stimulation was induced via 8-Hz LED goggles. Seven subjects with and seven without detectable functional MR imaging response to photic stimulation underwent further studies with 16-channel EEG after 2- to 30-Hz stroboscopic stimulation. RESULTS: Thirteen men and 18 women had a significant increase in MR signal in the visual cortex; seven men showed no visual cortex activation during more than two repeated studies. Six of seven volunteers with increased functional MR imaging signal after photic stimulation also showed signs of EEG synchronization when an 8-Hz stroboscopic flash was used; six of seven subjects with no functional MR imaging lacked EEG synchronization at 8-Hz stimulation. CONCLUSIONS: Men were more likely than women to have undetectable MR signal changes after photic stimulation. This finding should be considered when interpreting results of functional MR imaging studies. EEG with stroboscopic examination is a good predictor of functional MR imaging sensitivity to changes in regional cerebral blood flow induced by sensory stimulation.

Adult↗
PubMed1998

Pharmacokinetics of factor VIII in hemophilia A patients assessed by frequency response method.

The frequency response method, having its mathematical underpinnings in the theory of linear dynamic systems, was utilized to model pharmacokinetic systems describing the fate of factor VIII (F VIII) administered to hemophilia A patients before surgery. The pharmacokinetic system was defined on the basis of the patient's data in such a way that the injection of F VIII during 5-15 min was considered the input, and the corresponding plasma F VIII concentration profile consisting of both the injection and post-injection part the output of this system. The approach is an alternative to routine procedures based only on evaluation of the post-injection part of the F VIII concentration profile. With respect to the common sampling schedule of F VIII, simple second-order models were found acceptable for all the patients involved in the study. However, in the patients whose plasma F VIII concentration profiles did not decrease monotonously after the injection, these models failed to approximate secondary peaks indicating the presence of time delays in F VIII kinetics. The results obtained were discussed with respect to applications of pharmacokinetic models for the adjusted dose continuous infusion of F VIII in hemophilia A patients during and after surgical interventions.

Adolescent↗