Lege Artis Medicinae

[Labiolingual lesions - important symptoms of a rare endocrine syndrome]

SALLAI Ágnes, HOSSZÚ ÉVA1, GERGICS Péter2, RÁCZ Károly2, FEKETE György1

FEBRUARY 20, 2009

Lege Artis Medicinae - 2009;19(02)

AFFILIATIONS

  1. Semmelweis Egyetem, Általános Orvostudományi Kar, II. sz. Gyermekgyógyászati Klinika
  2. Semmelweis Egyetem, ÁOK, II. Sz. Belgyógyászati Klinika, Budapest

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[Treatment of acute pancreatitis, with special regard to pharmaceutical therapy]

DÖBRÖNTE Zoltán

[Treatment of acute pancreatitis is mainly supportive, including the correction of any factors causing or sustaining the disease process, efforts to limit complications, as well as treatment of complications. Pharmaceutical efforts to influence the pathophysiological events with protease inhibitors or by influencing the release of the pro-inflammatory cytokine cascade did not prove to be effective, so there is no known effective and specific drug therapy for clinical use. Adequate pain control is an important component of pharmaceutical management, and - although yet controversial - early antibiotic prophylaxis and effective antimicrobial treatment of the inflammatory complications (infected necrosis or fluid collection, SIRS, sepsis) have probably a determining role in the outcome of severe necrotizing pancreatitis. Carbapenems proved to be the most potent antibiotics. For the prevention of the not infrequent fungal superinfection in acute pancreatitis, early administration of fluconasole can also decrease mortality. Surgery is indicated in the first stage of infected necrosis and infected pancreatic and peripancreatic fluid collections. In certain patients with a high operative risk, endoscopic or percutaneous drainage with lavage can also be worth trying. Optimal conditions for the treatment of severe necrotizing pancreatitis, as well as adequate management of multiple organ failure can only be warranted at an intensive care unit. In the chemoprevention of pancreatitis complicating endoscopic retrograde cholangiopancreatography (ERCP), non-steroidal anti-inflammatory drugs promise a new therapeutic option. There are insufficient data about the beneficial effects of the protease inhibitor ulinastatin, and results with nitroglycerin are contradictory.]

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[Sudden cardiac death in athletes - cardiac electrophysiology point of view]

VARRÓ András

[Sudden cardiac death of athletes is very rare (1/50 000 to 1/100 000 annually) but it is still 2 to 4 times more frequent than that of the agematched normal population. In addition, it attracts peculiar media attention. Sudden cardiac death in athletes is supposed to not primarily have an ischemic origin but most likely relates to repolarization abnormalities. These may be caused by several independent and/or dependent factors such as benign cardiac hypertrophy developing normally in athletes (athlete’s heart), hypertrophic cardiomyopathy, increased sympathetic activity, genetic defects, seemingly harmless drugs, doping agents, food, and dietary supplements. These factors together can increase inhomogeneities in myocardial repolarization (“substrate”). In this case, an otherwise harmless extrasystole (“trigger”) occurring with unlucky timing may - although very seldomly - elicit fatal arrhythmias. Thus, effective prevention of sudden cardiac death may include new types of cost-effective cardiac electrophysiological screening methods (ECG or echocardiography) and, in case of a high level of suspicion, more costly genetic tests can be considered.]

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[Practical considerations in the state-of-the-art management of ankylosing spondylitis]

SZÁNTÓ Sándor, SZEKANECZ Zoltán

[Ankylosing spondylitis is an inflammatory rheumatic disease characterized by inflammation of the spinal and sacroiliacal joints, which causes chronic back pain and ultimately spinal stiffness, impaired motility, and deformity. Until the last decade, treatment mainly consisted of a combination of physical therapy and non-steroidal anti-inflammatory drugs, but recently tumor necrosis factor-α inhibitors revolutionized therapy and improved clinical outcomes. Tumor necrosis factor-α inhibitors effectively control inflammation of the sacroiliacal and spinal joints as shown by improved signs symptoms, and functions, magnetic resonance imaging findings, and reduction of acute phase reactants. Whether these drugs are capable of preventing radiographic progression and structural damage has, however, to be clarified in future studies. This review aims to highlight recent progress in the treatment of ankylosing spondylitis, and to provide recommendations for its management.]

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[Deep brain stimulation: a breakthrought in the treatment of movement disorders]

KOVÁCS Norbert, BALÁS István, LLUMIGUANO Carlos, ASCHERMANN Zsuzsanna, NAGY Ferenc, JANSZKY József, DÓCZI Tamás, KOMOLY Sámuel

[Over the last 20 years, it became clear that deep brain stimulation is a breakthrough in the treatment of drug-resistant movement disorders. Stimulation acts by functional inhibition of certain pathologically hyperactive nuclei. Of advantage is that the patient himself can change stimulation parameters depending on his actual status, thus reaching optimal quality of life. This option has been available for years in Hungary, as well. It is a safe, effective and cost-effective alternative in the symptomatic management of drug-refractory Parkinson’s disease, essential tremor, and primary dystonia. Before surgery, a comprehensive investigation including clinical diagnosis, severity, surgery contraindications, and expected benefit has to be performed. Based on the results of international multicenter studies, bilateral subthalamic nucleus stimulation may improve - besides symptoms, such as tremor, rigidity, bradykinesia and levodopa-induced side effects - also quality of life in Parkinson’s disease. In essential tremor, stimulation of the ventral intermediate nucleus of the thalamus is capable of spectacularly decreasing tremor. For primary dystonias, stimulation of the pallidum can improve drug-resistant symptoms and quality of life, and it substantially reduces social dependency and the amount of nursing required. In childhood dystonias, surgery may be performed at an age of as low as seven years.]

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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.

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

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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.

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[What happens to vertiginous population after emission from the Emergency Department?]

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Autism spectrum disorder is a neurodevelopmental disorder with a heterogeneous presentation, the etiology of which is not clearly elucidated. In recent years, comorbidity has become more evident with the increase in the frequency of autism and diagnostic possibilities of inborn errors of metabolism. One hundred and seventy-nine patients with diagnosis of autism spectrum disorder who presented to the Pediatric Metabolism outpatient clinic between 01/September/2018-29/February/2020 constituted the study population. The personal information, routine and specific metabolic tests of the patients were analyzed retrospectively. Out of the 3261 patients who presented to our outpatient clinic, 179 (5.48%) were diagnosed with autism spectrum disorder and were included in the study. As a result of specific metabolic examinations performed, 6 (3.3%) patients were diagnosed with inborn errors of metabolism. Two of our patients were diagnosed with classical phenylketonuria, two with classical homocystinuria, one with mucopolysaccharidosis type 3D (Sanfilippo syndrome) and one with 3-methylchrotonyl Co-A carboxylase deficiency. Inborn errors of metabolism may rarely present with autism spectrum disorder symptoms. Careful evaluation of the history, physical examination and additional findings in patients diagnosed with autism spectrum disorder will guide the clinician in the decision-making process and chose the appropriate specific metabolic investigation. An underlying inborn errors of metabolism may be a treatable cause of autism.