Lege Artis Medicinae

[Hereditary angioneurotic oedema]

FARKAS Henriette

APRIL 22, 2008

Lege Artis Medicinae - 2008;18(04)

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Lege Artis Medicinae

[Pain and Pain Relief in Rheumatology]

GAÁL János

Lege Artis Medicinae

[Facts and myths in the management of acute stroke]

CSIBA László, KOVÁCS Katalin Réka

Lege Artis Medicinae

[PRIMARY TUMOURS OF UNKNOWN ORIGIN WITH CERVICAL LYMPH NODE METASTASES - A RETROSPECTIVE STUDY]

GARAI Tibor, NÉMETH Zsuzsanna, TOMPOS Tamás, ZEMPLÉN Béla

[ITRODUCTION - Primary tumours are defined unknown if, despite of the presence of histologically verified metastases, the site of origin cannot be revealed even with complex investigations. On average, 5% of patients with cervical lymph node metastases belong to this group. The incidence of cervical lymph node tumours increases with age, with more than 60% arising from malignancies in patients over 40. PATIENT AND METHODS - In this retrospective study, the authors review the history of 29 patients treated or examined in their department between January 2002 and November 2006 with the starting diagnosis of cervical lymph node metastasis from a primary tumour of unknown origin. All patients had a thorough physical examination, indirect upper respiratory tract endoscopy, and aspiration cytology. In the search for the primary tumour the use of both traditional X-ray studies and modern imaging techniques are justified. RESULTS - Of the 29 patients, five did not present after surgery, and one patient died. The location of the primary tumour could be determined in 12 of the remaining 23 patients during the follow-up period. These included the palatine tonsil in four cases, the lung in three patients, the lower pharynx in two patients, and one case each of the lingual radix, the larynx and the nasal pharynx. The histology of the metastases was mostly squamous cell carcinoma and they were located in the upper parajugular region. The investigation of the remaining patients is continued. CONCLUSION - In cases of cervical lymph node metastases that histologically turn out to be squamous cell carcinoma, the primary tumour should first be searched for in the head-and-neck region, followed by the lungs. On the other hand, high-grade nasopharyngeal carcinomas warrant the search in the Waldeyer ring. The authors emphasize the importance to keep the proper order of the diagnostic and therapeutic steps and to manage these patients in experienced institutions.]

Lege Artis Medicinae

[Tonsillectomy]

GERLINGER Imre

Lege Artis Medicinae

[In focus: Acute diarrhoea in the general practice]

SZALKA András

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Sandhoff disease is a rare type of hereditary (autosomal recessive) GM2-gangliosidosis, which is caused by mutation of the HEXB gene. Disruption of the β subunit of the hexosaminidase (Hex) enzyme affects the function of both the Hex-A and Hex-B isoforms. The severity and the age of onset of the disease (infantile or classic; juvenile; adult) depends on the residual activity of the enzyme. The late-onset form is characterized by diverse symptomatology, comprising motor neuron disease, ataxia, tremor, dystonia, psychiatric symptoms and neuropathy. A 36-year-old female patient has been presenting progressive, symmetrical lower limb weakness for 9 years. Detailed neurological examination revealed mild symmetrical weakness in the hip flexors without the involvement of other muscle groups. The patellar reflex was decreased on both sides. Laboratory tests showed no relevant alteration and routine electroencephalography and brain MRI were normal. Nerve conduction studies and electromyography revealed alterations corresponding to sensory neuropathy. Muscle biopsy demonstrated signs of mild neurogenic lesion. Her younger brother (32-year-old) was observed with similar symptoms. Detailed genetic study detected a known pathogenic missense mutation and a 15,088 base pair long known pathogenic deletion in the HEXB gene (NM_000521.4:c.1417G>A; NM_000521:c.-376-5836_669+1473del; double heterozygous state). Segregation analysis and hexosaminidase enzyme assay of the family further confirmed the diagnosis of late-onset Sandhoff disease. The purpose of this case report is to draw attention to the significance of late-onset Sandhoff disease amongst disorders presenting with proximal predominant symmetric lower limb muscle weakness in adulthood.

Clinical Neuroscience

Cyanocobalamin and cholecalciferol synergistically improve functional and histopathological nerve healing in experimental rat model

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[Transthyretin familial amyloid polyneuropathy - three Hungarian cases with rare mutations (His88Arg and Phe33Leu)]

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[Introduction - Transthyretin familial amyloid polyneuropathy is a rare autosomal dominant progressive systemic disesase of adults caused by endoneural amyloid deposition due to point mutations of the transthyretin gene. It is the most severe form among hereditary polyneuropathies, being fatal within 10 years if left untreated. The disease is underdiagnosed, the late onset forms (above the age of 50) being probably more widespread than previously thought. Early diagnosis is essential as the early introduction of causal therapy (tafamidis) slows progression and prolongs survival. Patients - We report here three non-related Hungarian cases of transthyretin familial amyloid polyneuropathy with non- Val30Met mutations (His88Arg in two cases, Phe33Leu in one case). They were all characterized by late-onset, progressive, length-dependent, axonal, sensorimotor polyneuropathy and the simultaneous presentation of severe restrictive cardiomyopathy. In all three cases, clinical and electrophysiological signs of myopathy were also present, suggesting the involvement of skeletal muscles as well. In two cases, high resolution ultrasound of the peripheral nerves was also performed, which showed segmental structural alterations (change or loss of fascicular structure) and some increase of echogenicity of the interfascicular epineurium, without substantial enlargement of the nerves. Conclusion - In Hungary, mainly the rare, non-Val30Met mutation forms of transthyretin familial amyloid polyneuropathy are encountered, as in our cases. As opposed to the Val30Met forms, these mutations are characterized by late onset and simultaneous presentation of severe cardiomyopathy. Our report highlights the importance of considering transthyretin familial amyloid polyneuropathy in the differential diagnosis of late-onset, progressive, axonal polyneuropathies of unknown etiology, particularly if associated with cardiac disease.]

Clinical Neuroscience

[F-DOPA PET/MR based target definiton in the 3D based radiotherapy treatment of glioblastoma multiforme patients. First Hungarian experiences ]

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[Introduction - Radiotherapy plays important role in the complex oncological treatment of glioblastoma multiforme (GBM). The modern 3D radiotherapy treatments are based on cross-sectional CT and MR information, however more attention is being paid to functional hybrid imaging describing the biological and functional morphology of tumor lesions. 18F-DOPA is an amino acid tracer with high specificity and sensitivity, which may play an important role in the precise definition of target volume in the irradiation process of GBM patients. Our study presents the first experiences with 18F-DOPA based PET/CT/MR 3D irradiation planning process. Methods - In Hungary the 18F-DOPA radiotracer has been available for clinical use since September 2017. Between September 2017 and January 2018, at the Somogy County Kaposi Mór Teaching Hospital Dr. József Baka Diagnostic, Radiation Oncology, Research and Teaching Center 3 histologically verified glioblastoma multiforme patients received 18F-DOPA based 3D irradiation treatment. In the contouring process the native planning CT scanes were fused with the PET/MR series (T1 contrast enhanced, T2 and 18F-DOPA sequences). We defined 18F-DOPA uptake volume (BTV-F-DOPA), the T1 contrast enhanced MRI volume (GTV-T1CE), and the volume of the area covered by oedema on the T2 weighted MRI scan (CTV-oedema) in all patients. We also registered the BTV-F-DOPA volumes not covered by the conventional MR based target volumes. Results - Examining the 3 cases, the average volume of 18F-DOPA tumor was 22.7 cm3 (range 15.3-30.9; SD = 7.82). The average GTV T1 CE was found to be 8.7 cm3 (range 3.8-13.2; SD = 4.70). The mean CTV oedema volume was 40.3 cm3 (range 27.7-57.7; SD = 15.36). A non-overlapping target volume difference (BTV-F-DOPA not covered by CTV oedema area) was 4.5 cm3 (range 1-10.3; SD = 5.05) for PTV definition. Conclusion - Based on our results the tumor area defined by the amino acid tracer is not fully identical with the MRI defined T2 oedema CTV. 18F-DOPA defined BTV can modify the definiton of the PTV, and the radiotherapy treatment. ]

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