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Biomedical subjects

M Graf

Publications and source records attributed to M Graf.

At least 55 records · Page 3Linked to original sources

Congenital axonal neuropathy caused by deletions in the spinal muscular atrophy region.

Three newborn siblings presented with generalized weakness, asphyxia, facial diplegia, and external ophthalmoplegia. Electrophysiological testing showed inexcitability of motor and sensory nerves and myographic signs of denervation. Nerve biopsies and postmortem examination showed loss of myelinated fibers and axonal damage in sensory and mixed nerves. Many spinal motor neurons were chromatolytic although their number was normal. Molecular genetic investigations revealed a homozygous deletion of the survival motor neuron (SMN) gene and a loss of markers Ag1-CA and C212 in the paternal haplotype. These findings are consistent with the diagnosis of an unusually severe type of spinal muscular atrophy. Given the large extent of the deletion, it must be considered that the unusual severe phenotype with involvement of brainstem nuclei and afferent nerves might also be due to changes of yet unknown genes neighboring the SMN gene.

Axons↗

Isolation and characterization of highly (R)-specific N-acetyl-1-phenylethylamine amidohydrolase, a new enzyme from Arthrobacter aurescens AcR5b.

A new amidohydrolase deacetylating several N-acetyl-1-phenylethylamine derivatives (R)-specifically was found in Arthrobacter aurescens AcR5b. The strain was isolated from a wet haystack by enrichment culture with (R)-N-acetyl-1-phenylethylamine as the sole carbon source. (R) and (S)-N-acetyl-1-phenylethylamine do not serve as inducers for acylase formation. By improving the growth conditions the enzyme production was increased 47-fold. The amidohydrolase was purified to homogeneity leading to a 5.2-fold increase of the specific activity with a recovery of 67%. A molecular mass of 220 kDa was estimated by gel filtration. Sodium dodecyl sulfate/polyacrylamide gel electrophorosis shows two subunits with molecular masses of 16 kDa and 89 kDa. The optimum pH and temperature were pH 8 and 50 degrees C, respectively. The enzyme was stable in the range of pH 7-9 and at temperatures up to 30 degrees C. The enzyme activity was inhibited by Cu2+, Co2+, Ni2+, and Zn2+, and this inhibition was reversed by EDTA.M.

Amidohydrolases↗

Correlations for the Development Visual-Motor Integration Test and the Wechsler Intelligence Scale for Children-III.

Previous studies have indicated that scores on the Developmental Test of Visual Motor Integration correlate higher with Performance than Verbal and Full Scale IQs of the Wechsler Intelligence Scale for Children-Revised. WISC-III and Visual Motor Integration-3R scores from 99 boys and 46 girls ranging in age from 6 to 16 years were obtained by certified school psychologists to study the relationship between the two measures. Participants were drawn from six suburban Chicago school districts, two being very affluent. These Pearson correlations for standard scores ranging from .34 to .57 and following previous research, were ranked from highest to lowest and then transformed into an approximately normal Z statistic using Fisher Z. The highest correlation was compared to the next highest and so on, which yielded significant differences. Only four comparisons had to be made.

Adolescent↗

Examining PTSD as a Complication of Infertility.

Posttraumatic stress disorder (PTSD) is a psychiatric disorder that may develop following exposure to threatened or actual injury or death. While commonly associated with war or natural disaster, symptoms of PTSD have been described in patients who are undergoing or who have completed infertility treatment or high-risk pregnancies. Three case studies of patients who developed PTSD following such pregnancies are discussed, demonstrating the variety of symptoms and presentations of these patients. The clinician must be vigilant in monitoring infertility patients with PTSD. These women, as the result of infertility, may be at increased risk of developing PTSD, one of the recognized postpartum psychiatric disorders. It is important to distinguish PTSD from postpartum depression, because treatment guidelines vary.

Journal Article↗

[Implantation metastases following laparoscopic cholecystectomy in gallbladder carcinoma].

HISTORY AND CLINICAL FINDINGS: A 66-year-old woman was known to have had cholecystolithiasis for at least 4 years. Laparoscopic cholecystectomy was performed at another hospital where histological examination surprisingly revealed middle-grade differentiated carcinoma of the gall-bladder (pT2, G2). A nodular metastasis of the gall-bladder carcinoma was noted on the abdominal wall 3 months later and excised. Lymph-vessel carcinomatosis was already present. The patient again noticed a tumour in the right mid-abdomen and a further tumour was palpated in the epigastrium 5 months after the operation. INVESTIGATIONS: Laboratory and tumour-marker (CEA, CA 19-9) tests were unremarkable, while sonography and computed tomography were highly suspicious for abdominal wall metastases in the epigastrium and right mid-abdomen. TREATMENT AND COURSE: Both metastases were excised. Laparotomy revealed tumour recurrence in the old gall-bladder bed, as well as extensive peritoneal carcinoma. Two months after the operation she developed jaundice, caused by tumour compression of the choledochal duct. An expanding stent was inserted into the stenosed section of the duct. The patient died 13 months after the first operation from the underlying malignancy with multiple liver metastases and malignant ascites. CONCLUSIONS: Indications for minimally invasive surgery in malignant tumour should be narrowly defined. Because tumour seeding is possible after laparoscopic cholecystectomy with incidentally found carcinoma extensive re-excision should be performed.

Abdominal Muscles↗

The functional organization of the interictal spike complex in benign rolandic epilepsy.

PURPOSE: We studied the functional organization of the interictal epileptic spike complex in patients with benign rolandic epilepsy of childhood (BREC). METHODS: We recorded interictal epileptiform spikes and somatosensory evoked potentials after median nerve stimulation, providing a biologic marker for the location of the central sulcus in 12 patients with BREC. We used multiple dipole modeling to assess the number, the three-dimensional intracerebral location, and the time activity of the underlying neuronal sources. RESULTS: Although the interictal spike complex could be modeled by a single tangential dipolar source in seven patients (group 1), in the remaining five patients, two sources-a radial and a tangential dipole-were necessary adequately to explain the interictal spikes (group 2). The tangential source was located deeper than the radial source and was characterized by a frontal positivity and a centroparietal negativity with a phase reversal across the central sulcus, suggesting that the interictal spikes originated in the anterior wall of the central sulcus. The radial source showed a single electronegativity over the ipsilateral central region, which would be compatible with involvement of the top of either the pre- or postcentral gyrus. Both sources showed biphasic time patterns with an average latency difference of 30 ms. CONCLUSIONS: Our results indicate that in some patients with typical BREC, the interictal epileptiform spike complex is generated by multiple, simultaneously active neuronal populations within the central region and that epileptiform activity is propagated between these two adjacent cortical areas.

Adolescent↗

[Regression of functional cysts: high dosage ovulation inhibitor and gestagen therapy has no added effect].

To investigate the need for hormonal treatment in patients with functional ovarian cysts (FOC), the efficacy of this treatment was evaluated in a retrospective and also in a randomised prospective study. By retrospective analyses the resolution of FOC with a mean diameter larger than 2.0 cm at the beginning of a cycle was determined in 113 patients (31.6 +/- 4.6 years). Fifty-seven women received an oral contraceptive (ethinylestradiol 50 micrograms/d for 7 days, ethinylestradiol 50 micrograms and desogestrel 125 micrograms/d for 15 days), the others had no therapy. In a second study 59 patients (32.3 +/- 4.6 years) were randomised to receive a combination of ethinylestradiol 50 micrograms and levonorgestrel 250 micrograms/d for 21 days (Group 1, n = 24), or lynestrenol 10 mg/d continuously (Group 2, n = 14) or a third group (Group 3, n = 21) without treatment. In both studies no differences were found between those patients who had hormonal treatment and those who had not. The prospective study revealed that spontaneously appearing FOC and FOC evolving after ovulation induction during the cycle prior to study enrolment, resolved equally well within 12 weeks independent of contraceptive or gestagen treatment. FOC persisted in only one woman (group 2) who had a surgically proven endometrioma. In conclusion, hormonal treatment does not produce regression of FOC in women of reproductive age.

Adult↗

[Long-term results of cemented total endoprostheses of the hip joint].

211 Müller-Charnley resp. Müller-Straight-Stem prostheses have been implanted from 1974 to 1984 in our Department for Trauma-Surgery. They were evaluated 11.8 years after implantation by clinical and radiological examination. 24 (12.8%) prostheses have been replaced because of aseptic loosening. Patients have been further evaluated by means of a new score, which emphasizes the mobility of the patients after total hip replacement. Mobility decreases significantly in patients over 70 years.

Activities of Daily Living↗

Self-expanding nitinol stents in canine vertebral arteries: hemodynamics and tissue response.

PURPOSE: To evaluate the hemodynamics and tissue response associated with stent placement in low-flow-velocity arteries. METHODS: Six self-expanding nitinol stents (5.5 mm caliber) were implanted transfemorally within the proximal segments of vertebral arteries (2.5 mm diameter) in six adult dogs during anticoagulative protection. RESULTS: Control angiograms demonstrated patency and 20% dilatation of all stented arteries. One artery was partially thrombosed 1 week later and subsequently showed a 50% stenosis. Throughout the observation period (4 to 9 months after stenting), the other five arteries remained patent without significant narrowing (< or = 15%). Small cervical muscle branches originating from the vertebral arteries within the stented segments remained patent. No major branch occlusions of the vertebrobasilar system were detected. Stent migration or kinking did not occur. MR studies of the brain 4 months after implantation revealed no infarcted areas. These findings were confirmed with brain sections. Stented artery specimens showed delayed stent dilatation. A comparison of the total mean thickness of intima covering the five 30- to 40-mm stents removed at 4, 6, and 9 months showed no significant difference (338, 332, and 389 microns, respectively). Histologic findings verified the macroscopic impression of a thicker intima at the inner curve of the stented artery segments and at the junctions of the stent filaments. The shortest (10 mm) stent had the thinnest neointimal growth (155 microns). Stented vessels showed compression of the media with atrophy, but without necrosis or perforation. Scanning electron photomicrographs revealed intact endothelial cell linings with typical elongated cells. CONCLUSIONS: No significant risk of thromboembolic events exists after implanting these nitinol stents in nonatherosclerotic vertebral arteries in dogs. Thicker neointimal growth after stenting may result from either low wall shear stress with possible flow separation or from changes in the shape and size of the stent, or both.

Alloys↗

[Results of surgical therapy in esophagus and cardia carcinoma].

Surgery for carcinoma of the esophagus and cardia represents potentially curative therapy in early stage of tumor. In the advanced stage of tumor palliation is the only remaining therapeutic aim. In a retrospective study covering the period 1984-1992 we analyzed 51 patients who underwent surgery for esophageal or cardia cancer to determine whether palliation by surgery is feasible. We also analyzed morbidity and mortality of peri- and postoperative complications. In 88% we carried out standard esophagectomy consisting of abdomino-thoracic access, gastric interposition with thoracic anastomosis and extramucous pyloromyotomy. In the light of postresection histology, 53% of the operations were potentially curative (UICC stage I and II) [1], 47% palliative (UICC stage III and IV) [1]. Perioperative 30-days mortality was nil, perioperative 30-days morbidity 11% (3 patients developed pneumonia postoperatively, 2 patients with cervical anastomosis developed dehiscence of anastomosis which in both cases healed completely with conservative therapy, while a further patient with cervical anastomosis suffered persistent paralysis of the recurrent nerve. All patients were fully able to feed themselves at the time of discharge. 43% of patients had recurrent dysphagia and 24% underwent endoscopic dilatation. Three-year survival was 26%. From these results it may be concluded that esophageal resection represents either good palliation with low morbidity for the majority of patients with non-resectable carcinoma of the esophagus or potentially curative therapy with low morbidity in early stage of tumor.

Adenocarcinoma↗

Rapid dedifferentiating meningioma with repeated multifocal recurrences and pulmonary metastases.

A 62-year-old woman presented with a convexity meningioma which, after primary surgery, was histopathologically graded as grade II. There followed three more operations due to repeated rapid local recurrences. After each of these three operations histology revealed dedifferentiated grade III tumors. At third recurrence moreover, other multiple tumor masses in the vicinity of the primary tumor site and in the lung were found. These had the same histological appearance as the local recurrences. The patient died 30 months after primary surgery from respiratory failure due to the multiple lung metastases.

Brain↗

The effects of brain lesions on the course of chronic epilepsies.

The effect of intercurrent brain lesions on the characteristics of chronic epilepsies has not yet been the subject of detailed investigation. We therefore retrospectively examined this issue for idiopathic, cryptogenic as well as symptomatic chronic epilepsies in patients documented in routine investigations at our outpatient seizure unit between the occurrence of epilepsy and commencement of the study. The clinical criteria for inclusion in this study were brain injury by trauma, stroke or intracerebral hemorrhage, documented by CT scan, and the occurrence of this so-called index event in patients with established chronic epilepsy. These requirements were met by 63 patients (40 male, mean age 44.8 years, SD 14.7 a; 23 female, mean age 43.1 years, SD 16.4 a). Seizure characteristics, EEG recordings as well as seizure frequencies before and after the index event were compared. Patients and controls were observed for a mean time of 22.12 years (SD 7.33 a) and 22.01 years (SD 11.31 a), respectively. Two patients presenting with generalized seizures prior to brain injury underwent a change in seizure characteristics. One control (without intercurrent brain lesion; matched for age, sex, age at onset of seizure disorder and classification of seizure disorder) primarily presenting with partial seizures evolving to generalized seizures showed changed seizure characteristics. These changes are statistically insignificant (McNemar test for the significance of changes). Seizure frequencies decreased significantly after brain injury. EEG recordings mirrored clinical findings with additional focal aspects according to brain lesion. These findings are discussed mainly with respect to the cofactorial etiology of epilepsies.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗

Type-specific diagnostic analysis of first epileptic seizure in adults.

327 adults patients presenting with a first epileptic seizure were evaluated in respect to underlying causes. The majority suffered from alcohol-related seizures, in the elderly patients vascular pathology dominated. Remote symptomatic seizures raise the question of anticonvulsant therapy.

Adolescent↗