Lege Artis Medicinae

[Congenital osteogenesis associated with arteriopathy calcificans infantum]

MOLDVAY Judit1, SZENDE Béla1, GÖRBE Éva2, PAPP Zoltán2

APRIL 29, 1992

Lege Artis Medicinae - 1992;2(04)

[A 25-year-old mother was treated with clomifen (Clostilbegyt) during her pregnancy by accident. Ultrasound scan - performed at the 32nd gestational week – showed polyhydramnion and abnormally short, deformed fetal limbs. The newborn male infant died 20 minutes after cesarean section. Autopsy revealed osteogenesis imperfecta accompanied by a rare vessel alteration, arteriopathia calcificans infantum. The possible connection between the two diseases and the estrogen therapy is discussed. ]

AFFILIATIONS

  1. I. sz Pathológiai és Kísérleti Rákkutató Intézet
  2. I. sz Szülészeti és Nőgyógyászati Klinika Semmelweis Orvostudományi Egyetem Budapest

COMMENTS

0 comments

Further articles in this publication

Lege Artis Medicinae

[Malnutrition syndrome in childhood part I.]

BAKSAI László, PHILIP W. H. Eskes

[Malnutrition is a chrocic nutritional disorder resulting from insufficient intake of caloric energy and/or some the fundamental nutrients. Since it is the most common public health problem in the world it has a great impact on pediatric morbidity and mortality. The etiology is extremely complex. When one considers the less severe symptoms and signs caused by vitamin-, mineral-, and trace element deficiencies, it is apparent that not only children living in underprivileged countries are affected. In the course of making the diagnosis an assessment of the nutritional status should also be made, especially considering the above-mentioned marginal nutritional deficiencies. The most common manifestation of nutritional disorders is anemia, which is mostly caused by lack of iron, vitamin B12, folic acid and can be complicated by infections. Nutritional requirements can be affected by several drugs. That is why this medication-nutrition interaction has to be kept in mind during treatment. The interaction of malnutrition and infection is very important, primarily for three reasons: mechanisms by which infection complicates the metabolic and nutritional status of the host; importance of suboptimal nutritional status on susceptibility and severity of intercurrent infections; clinical and therapeutic implication of these interactions. ]

Lege Artis Medicinae

[The bleeding time]

BODA Zoltán

[The bleeding time is considered to be the best screening test for the detection of disorders of primary haemostasis. Despite a large number of bleeding time tests, the exact pathophysiological background of the prolonged bleeding time is unknown. The significance of the cellular (platelet) von Willebrand protein is emphasized. A sensitive method (Ivy) and standardized devices (Simplate) are suggested. Examination of the bleeding time in cases of von Willebrand disease and congenital or acquired thrombocytopathy is essential. Specific recommendations regarding the rational use of the bleeding time (diagnostic algorythm) are presented. ]

Lege Artis Medicinae

[Clinical importance of pharmacogenetic investigation]

VAS Ádám, RÓNA Kálmán, GACHÁLYI Béla , SZABÓ Ildikó

[This is a brief review on the most important monogenically determined metabolic polymorphisms, their biochemical background and clinical significance. Relevant data from literature are also featured. The authors review data on possible connections between metabolic polymorphism and the risk of certain diseases.]

Lege Artis Medicinae

[Correspondence]

SZOMBATI István, MANNINGER Jenő, KAZÁR György, HARMAT Pál, MÁRTON Éva, KRASZNAI Géza

[Includes the following letters : Little Hungarian point system; ...and the injured?; Abuse of psychosomatics the organic dimension of psychiatry; Psychogenic horsekick; ]

Lege Artis Medicinae

[P300 wave evoked by visual and acustic stimuli in parkinsonian patients with or without dementia]

MOGYORÓS Ilona, SZOMBATHELYI Éva

[Authors analysed the relationship between cognitive function disturbance observed in patients with Parkinson's disease and clinical features of the disease. Relationship between the latency prolongation of the P 300 wave and the duration of substitution therapy, clinical form and severity of the disease (the Hoehn-Yahr stage) was examined. 75 randomly selected young patients with Parkinson's disease were divided in to two groups: one with and the other without dementia as determined by the Wechsler. Hunt and Mini Mental State tests. The latency of the P 300 wave using visual and acoustic stimuli was determinated. Significant prolongation of the latency of P 300 wave evoked both by visual and acoustic target stimuli was found in parkinsonian patients with dementia. Patients with dementia have longer duration of disease and substitution therapy. The akinetic-rigid form of the disease was more frequent in this group as well. A significant part of younger patients are chacarterised not only with motor but with cognitive function disturbance, too. Determination of the latency of P 300 wave helps to select these patients and to choose the adequat therapy. ]

All articles in the issue

Related contents

Hungarian Radiology

[Osteogenesis imperfecta and spondylo-costal dysplasia in a male child]

MARIKOVA Olga, IVO Marik, KAZIMIERZ Kozlowski

[INTRODUCTION - Co-existence of osteogenesis imperfecta with another bone dysplasia is rare. That of osteogenesis imperfecta and spondylo-costal dysplasia has not yet been reported. CASE REPORT - The authors present a 13 year-old boy. He was disproportionate with shortening of the upper segment, and the upper and lower extremities, and he had dysmorphic face. His parents were healthy. Radiographs revealed osteogenesis imperfecta and spondylocostal dysplasia. CONCLUSION - Patients with two bone dysplasias have a much worse prognosis. Superimposition of any skeletal dysplasia on abnormal osteogenesis enhances the disposition to deformities and fractures.]

Clinical Neuroscience

Late simultaneous carcinomatous meningitis, temporal bone infiltrating macro-metastasis and disseminated multi-organ micro-metastases presenting with mono-symptomatic vertigo – a clinico-pathological case reporT

JARABIN András János, KLIVÉNYI Péter, TISZLAVICZ László, MOLNÁR Anna Fiona, GION Katalin, FÖLDESI Imre, KISS Geza Jozsef, ROVÓ László, BELLA Zsolt

Although vertigo is one of the most common complaints, intracranial malignant tumors rarely cause sudden asymmetry between the tone of the vestibular peripheries masquerading as a peripheral-like disorder. Here we report a case of simultaneous temporal bone infiltrating macro-metastasis and disseminated multi-organ micro-metastases presenting as acute unilateral vestibular syndrome, due to the reawakening of a primary gastric signet ring cell carcinoma. Purpose – Our objective was to identify those pathophysiological steps that may explain the complex process of tumor reawakening, dissemination. The possible causes of vestibular asymmetry were also traced. A 56-year-old male patient’s interdisciplinary medical data had been retrospectively analyzed. Original clinical and pathological results have been collected and thoroughly reevaluated, then new histological staining and immunohistochemistry methods have been added to the diagnostic pool. During the autopsy the cerebrum and cerebellum was edematous. The apex of the left petrous bone was infiltrated and destructed by a tumor mass of 2x2 cm in size. Histological reexamination of the original gastric resection specimen slides revealed focal submucosal tumorous infiltration with a vascular invasion. By immunohistochemistry mainly single infiltrating tumor cells were observed with Cytokeratin 7 and Vimentin positivity and partial loss of E-cadherin staining. The subsequent histological examination of necropsy tissue specimens confirmed the disseminated, multi-organ microscopic tumorous invasion. Discussion – It has been recently reported that the expression of Vimentin and the loss of E-cadherin is significantly associated with advanced stage, lymph node metastasis, vascular and neural invasion and undifferentiated type with p<0.05 significance. As our patient was middle aged and had no immune-deficiency, the promoting factor of the reawakening of the primary GC malignant disease after a 9-year-long period of dormancy remained undiscovered. The organ-specific tropism explained by the “seed and soil” theory was unexpected, due to rare occurrence of gastric cancer to metastasize in the meninges given that only a minority of these cells would be capable of crossing the blood brain barrier. Patients with past malignancies and new onset of neurological symptoms should alert the physician to central nervous system involvement, and the appropriate, targeted diagnostic and therapeutic work-up should be established immediately. Targeted staining with specific antibodies is recommended. Recent studies on cell lines indicate that metformin strongly inhibits epithelial-mesenchymal transition of gastric cancer cells. Therefore, further studies need to be performed on cases positive for epithelial-mesenchymal transition.

Clinical Neuroscience

Alexithymia is associated with cognitive impairment in patients with Parkinson’s disease

SENGUL Yildizhan, KOCAK Müge, CORAKCI Zeynep, SENGUL Serdar Hakan, USTUN Ismet

Cognitive dysfunction (CD) is a common non-motor symptom of Parkinson’s disease (PD). Alexithy­mia is a still poorly understood neuropsychiatric feature of PD. Cognitive impairment (especially visuospatial dysfunction and executive dysfunction) and alexithymia share com­mon pathology of neuroanatomical structures. We hypo­thesized that there must be a correlation between CD and alexithymia levels considering this relationship of neuroanatomy. Objective – The aim of this study was to evaluate the association between alexithymia and neurocognitive function in patients with PD. Thirty-five patients with PD were included in this study. The Toronto Alexithymia Scale–20 (TAS-20), Geriatric Depression Inventory (GDI) and a detailed neuropsychological evaluation were performed. Higher TAS-20 scores were negatively correlated with Wechsler Adult Intelligence Scale (WAIS) similarities test score (r =-0.71, p value 0.02), clock drawing test (CDT) scores (r=-0.72, p=0.02) and verbal fluency (VF) (r=-0.77, p<0.01). Difficulty identifying feelings subscale score was negatively correlated with CDT scores (r=-0.74, p=0.02), VF scores (r=-0.66, p=0.04), visual memory immediate recall (r=-0.74, p=0.01). VF scores were also correlated with difficulty describing feelings (DDF) scores (r=-0.66, p=0.04). There was a reverse relationship bet­ween WAIS similarities and DDF scores (r=-0.70, p=0.02), and externally oriented-thinking (r=-0.77,p<0.01). Executive function Z score was correlated with the mean TAS-20 score (r=-62, p=0.03) and DDF subscale score (r=-0.70, p=0.01) Alexithymia was found to be associated with poorer performance on visuospatial and executive function test results. We also found that alexithymia was significantly correlated with depressive symptoms. Presence of alexithymia should therefore warn the clinicians for co-existing CD.

Clinical Neuroscience

[The Comprehensive Aphasia Test in Hungarian]

ZAKARIÁS Lilla, RÓZSA Sándor, LUKÁCS Ágnes

[In this paper we present the Comprehensive Aphasia Test-Hungarian (CAT-H; Zakariás and Lukács, in preparation), an assessment tool newly adapted to Hungarian, currently under standardisation. The test is suitable for the assessment of an acquired language disorder, post-stroke aphasia. The aims of this paper are to present 1) the main characteristics of the test, its areas of application, and the process of the Hungarian adaptation and standardisation, 2) the first results from a sample of Hungarian people with aphasia and healthy controls. Ninety-nine people with aphasia, mostly with unilateral, left hemisphere stroke, and 19 neurologically intact control participants were administered the CAT-H. In addition, we developed a questionnaire assessing demographic and clinical information. The CAT-H consists of two parts, a Cognitive Screening Test and a Language Test. People with aphasia performed significantly worse than the control group in all language and almost all cognitive subtests of the CAT-H. Consistent with our expectations, the control group performed close to ceiling in all subtests, whereas people with aphasia exhibited great individual variability both in the language and the cognitive subtests. In addition, we found that age, time post-onset, and type of stroke were associated with cognitive and linguistic abilities measured by the CAT-H. Our results and our experiences clearly show that the CAT-H provides a comprehensive profile of a person’s impaired and intact language abilities and can be used to monitor language recovery as well as to screen for basic cognitive deficits in aphasia. We hope that the CAT-H will be a unique resource for rehabilitation professionals and aphasia researchers in aphasia assessment and diagnostics in Hungary. ]