Lege Artis Medicinae

[THE REAL FACE OF JUVENILE POLYPOSIS SYNDROME - MALIGNANCY IN A DISEASE PREVIOUSLY THOUGHT TO BE BENIGN]

TAM Beatrix, SALAMON Ágnes, BAJTAI Attila, NÉMETH Annamária, KISS János, SIMON László

MARCH 21, 2009

Lege Artis Medicinae - 2009;19(klsz)

[INTRODUCTION - The majority of colorectal cancer cases is sporadic, but familial and autosomal dominant forms should also be considered. Juvenile polyposis syndrome is an autosomal dominant condition caused by mutations in the SMAD4 or the BMPR1A gene. Typically, numerous hamartomatous polyps develop in the upper gastrointestinal and the colorectal area. In contrast to earlier opinions, some of these polyps may transform malignantly, like in the case presented here, at the age of 34-35 years on average. CASE REPORT - During the eighteen-year continuous care of the young man treated for juvenile polyposis, more than a hundred polyps were resected from the gastrointestinal tract. After an eigth-year intermission of surveillance because of insufficient compliance, the patient presented in a severe clinical condition caused by metastatic colorectal cancer. He died after a short palliative therapy at the age of 31. Based on the family tree, all of his living adult first-degree relatives were subsequently examined and juvenile polyposis syndrome was also diagnosed in his older brother. Genetic testing revealed a mutation in the BMPR1A gene in the clinically affected brother, one of his daughters, and also in the deceased probands child. CONCLUSION - Genetic testing made it possible to relieve the mutation-free relatives of the anxiety and particularly of a number of unnecessary, mainly invasive examinations, while mutation carriers can be given the best possible clinical surveillance.]

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Lege Artis Medicinae

[THE EPIDEMIOLOGY OF CEREBROVASCULAR DISEASES IN HUNGARY AFTER THE MILLENNIUM]

VOKÓ Zoltán, SZÉLES György, KARDOS László, NÉMETH Renáta, ÁDÁNY Róza

[INTRODUCTION - Here we present the descriptive epidemiology of stroke in Hungary including mortality, morbidity, functional limitation and inpatient care based on the most recent health statistical data. METHODS - Mortality data were analysed by direct and indirect standardisation, and geographical mapping based on empirical Bayesian smoothing. Morbidity data were obtained from the General Practitioners’ Morbidity Sentinel Station Program and the National Health Surveys. The latter also provided data on functional limitation. Data on inpatient service were taken from the European Hospital Morbidity Database of WHO. RESULTS - Hungarian stroke mortality continued to decrease in recent years, and the slope of the decrease was larger than in Western Europe. Stroke mortality was highest in the Northern- Hungarian Region, and in Somogy and Zala counties. The incidence of stroke was 1.5-2 times higher than in the developed countries in most age groups. Over 64 years of age, a decline of stroke incidence was observed, especially in men. In this age group approximately 10% of men and 7% of women had already had a stroke. Of these patients more than 10% needed assistance to get out of the bed, dress up, or eat. Hospitals reported more than 60 000 stroke cases in 2005. CONCLUSION - Despite the promising trends in stroke mortality and now also in morbidity, both indices are still rather high in Hungary compared to those in Western-Europe. The relatively favourable epidemiological changes, however, may be overridden by the increased stroke burden resulting from the aging of the population.]

Lege Artis Medicinae

[STATE-OF-THE ART COMPLEX TREATMENT OF THYROID CANCERS]

LUKÁCS Géza

[Thyroid cancers derived from follicular epithelial cells are histologically classified as papillary, follicular and anaplastic. Cancers that originate from parafollicular, or C-cells, are termed medullary carcinomas. Their annual incidence is fairly low; 3 to 7 cases per 100 000 people. After the Chernobyl disaster, however, thyroid cancers have received much attention. They often occur at young age, and frequently and early give metastases. They typically grow slowly and have a good prognosis even in the metastatic stage. The main prognostic factors include age, tumour size and extent, the completeness of surgical removal, distant metastases and tumour grade. Based on these parameters, they are classified into high-risk and low-risk groups. There are no prospective randomized studies available on the optimal treatment of thyroid cancers. Their biological aggressiveness differs according to geographic location, which explaines why the management of thyroid carcinomas has not been standardized internationally. Contrary to America and Australia, in Europe there are several endemic goitre regions, and background radiation is higher. It is generally accepted that here the standard therapy of choice is total thyreoidectomy with adequate lymph node dissection followed by postoperative radioiodine ablation. It is a reasonable demand to minimize the higher morbidity associated with radical surgery (e.g., recurrent nerve palsy, postoperative hypoparathyroidism) below 1%. It is recommended that such operations are performed by experienced thyroid surgeons in centres with multidisciplinary endocrine teams.]

Lege Artis Medicinae

[STEM CELL THERAPY AFTER ACUTE MYOCARDIAL INFARCTION]

NYOLCZAS Noémi, GYÖNGYÖSI Mariann

[Left ventricular remodelling and chronic heart failure as a consequence of myocardial infarction is a major problem despite of the everimproving therapeutic options. The available treatment methods have fairly limited success in preventing the development of these changes. Myocardial regeneration with stem cell treatment is a promising therapeutic alternative. Although the results should still be confirmed in large, randomised, multicentric controlled trials, data from animal studies and small clinical trials suggest that therapy with stem cells after acute myocardial infarction is safe and feasible, is able to reduce the extent of necrosis, and may improve myocardial perfusion and left ventricular function. This review presents the types of cells that can be used, the ways of application, and the available results of clinical trials of stem cell therapy after acute myocardial infarction.]

Lege Artis Medicinae

[Axillar sentinel node biopsy and surgical treatment of the axilla in breast cancer patients - Evidences and open questions]

CSERNI Gábor

Lege Artis Medicinae

[SEVERE NECROTISING PRIMARY VASCULITIS]

GRIGER Zoltán, SZÁNTÓ Antónia, SZABÓ Nóra Anna, SOLTÉSZ Pál, ZEHER Margit

[INTRODUCTION - Vasculitis is an inflammatory disorder of the vessels, often associates with necrosis. The primary (idiopathic) form caused by distinct immunological mechanisms, the secondary form caused by infection, tumor, drugs or systemic autoimmune disease. CASE REPORT - 57-year-old smoking female patient with a medical history of the left ankle fracture. Four days earlier had sore throat, at admission was febrile and generally weak and had severe pain in her lower extremities. Physical examination revealed numerous livid alterations in both lower extremities, necrotic change of some toes and new onset of diastolic hypertension. Elevated serum transaminase levels, severe thrombopenia, anemia, leukocytosis suggested the possibility of thrombotic thrombocytopenic purpura and vasculitis. Tests ruled out septic embolism, therefore we applied high dose steroid treatment and plasma exchange. Meanwhile the results fulfilled the classification criteria of polyarteritis nodosa (vasculitis, livedo reticularis, polyneuropathia and new onset of diastolic hypertension), accordingly we synchronized the treatment with fractionally administered intravenous cyclophosphamide. The process revealed responsive to therapy and the substantive function of the legs remained after surgical removal of the necrotic areas. CONCLUSIONS - Early rapid diagnosis of vasculitis is fundamental and we emphasize the significance of the efficient treatment.]

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Lege Artis Medicinae

[THE REAL FACE OF JUVENILE POLYPOSIS SYNDROME - MALIGNANCY IN A DISEASE PREVIOUSLY THOUGHT TO BE BENIGN]

TAM Beatrix, SALAMON Ágnes, BAJTAI Attila, NÉMETH Annamária, KISS János, SIMON László

[INTRODUCTION - The majority of colorectal cancer cases is sporadic, but familial and autosomal dominant forms should also be considered. Juvenile polyposis syndrome is an autosomal dominant condition caused by mutations in the SMAD4 or the BMPR1A gene. Typically, numerous hamartomatous polyps develop in the upper gastrointestinal and the colorectal area. In contrast to earlier opinions, some of these polyps may transform malignantly, like in the case presented here, at the age of 34-35 years on average. CASE REPORT - During the eighteen-year continuous care of the young man treated for juvenile polyposis, more than a hundred polyps were resected from the gastrointestinal tract. After an eigth-year intermission of surveillance because of insufficient compliance, the patient presented in a severe clinical condition caused by metastatic colorectal cancer. He died after a short palliative therapy at the age of 31. Based on the family tree, all of his living adult first-degree relatives were subsequently examined and juvenile polyposis syndrome was also diagnosed in his older brother. Genetic testing revealed a mutation in the BMPR1A gene in the clinically affected brother, one of his daughters, and also in the deceased proband's child. CONCLUSION - Genetic testing made it possible to relieve the mutation-free relatives of the anxiety and particularly of a number of unnecessary, mainly invasive examinations, while mutation carriers can be given the best possible clinical surveillance.]

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 role of sleep in the relational memory processes ]

CSÁBI Eszter, ZÁMBÓ Ágnes, PROKECZ Lídia

[A growing body of evidence suggests that sleep plays an essential role in the consolidation of different memory systems, but less is known about the beneficial effect of sleep on relational memory processes and the recognition of emotional facial expressions, however, it is a fundamental cognitive skill in human everyday life. Thus, the study aims to investigate the effect of timing of learning and the role of sleep in relational memory processes. 84 young adults (average age: 22.36 (SD: 3.22), 21 male/63 female) participated in our study, divided into two groups: evening group and morning group indicating the time of learning. We used the face-name task to measure relational memory and facial expression recognition. There were two sessions for both groups: the immediate testing phase and the delayed retesting phase, separated by 24 hours. 84 young adults (average age: 22.36 (SD: 3.22), 21 male/63 female) participated in our study, divided into two groups: evening group and morning group indicating the time of learning. We used the face-name task to measure relational memory and facial expression recognition. There were two sessions for both groups: the immediate testing phase and the delayed retesting phase, separated by 24 hours. Our results suggest that the timing of learning and sleep plays an important role in the stabilizing process of memory representation to resist against forgetting.]

Clinical Neuroscience

Creutzfeldt-Jakob Disease: A single center experience and systemic analysis of cases in Turkey

USLU Ilgen Ferda, ELIF Gökçal, GÜRSOY Esra Azize, KOLUKISA Mehmet, YILDIZ Babacan Gulsen

We aimed to analyze the clinical, laboratory and neuroimaging findings in patients with sporadic Creutzfeldt-Jakob disease (CJD) in a single center as well as to review other published cases in Turkey. Between January 1st, 2014 and June 31st, 2017, all CJD cases were evaluated based on clinical findings, differential diagnosis, the previous misdiagnosis, electroencephalography (EEG), cerebrospinal fluid and cranial magnetic resonance imaging (MRI) findings in our center. All published cases in Turkey between 2005-2018 were also reviewed. In a total of 13 patients, progressive cognitive decline was the most common presenting symptom. Two patients had a diagnosis of Heidenhain variant, 1 patient had a diagnosis of Oppenheimer-Brownell variant. Seven patients (53.3%) had been misdiagnosed with depression, vascular dementia, normal pressure hydrocephalus or encephalitis. Eleven patients (87%) had typical MRI findings but only 5 of these were present at baseline. Asymmetrical high signal abnormalities on MRI were observed in 4 patients. Five patients (45.4%) had periodic spike wave complexes on EEG, all appeared during the follow-up. There were 74 published cases in Turkey bet­ween 2005 and 2018, with various clinical presentations. CJD has a variety of clinical features in our patient series as well as in cases reported in Turkey. Although progressive cognitive decline is the most common presenting symptom, unusual manifestations in early stages of the disease might cause misdiagnosis. Variant forms should be kept in mind in patients with isolated visual or cerebellar symptoms. MRI and EEG should be repeated during follow-up period if the clinical suspicion still exists.