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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[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.]

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[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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[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.]

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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

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

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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

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[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.]

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

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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.