Lege Artis Medicinae

[SERUM ALANIN AMINOTRANSFERASE VALUES AND CHRONIC HEPATITIS C - HOW MUCH IS “NORMAL”, AND WHO SHOULD BE TREATED?]

HUNYADY Béla

MAY 16, 2007

Lege Artis Medicinae - 2007;17(04-05)

[Serum aminotransferases (= transaminases), especially alanin aminotransferase have been used in the diagnosis of liver diseases, including viral hepatitis, for decades. However, reliability of these biochemical markers was challenged in various respects by recent clinical studies. First, it has been shown not to be sensitive enough in screening for viral hepatitis in high risk populations (viral hepatitis may be present with normal values). Second, normal range is exceeded in a large number of subjects without genuine liver disease due to the increased proportion of people with metabolic disease (diabetes, dyslipidaemia) or high body weight, i.e., the upper limit of normal is too strict. Moreover, decision on treatment of patients with viral hepatitis infection and persistently normal aminotransferases poses a challenge for the clinician. Based on the current literature, this review attempts to provide guidelines for the everyday clinical practice.]

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[SEVERE GASTROINTESTINAL AND RENAL MANIFESTATIONS OF HENOCH-SCHÖNLEIN PURPURA]

GECSE Krisztina, ONDRIK Zoltán, KAIZER László, VARGA Erika, LONOVICS János, CZAKÓ László

[INTRODUCTION - Henoch-Schönlein purpura is a systemic small vessel vasculitis characterized by vascular and/or mesangial IgA deposits, primarily affecting the vasculature of the skin, joints, kidneys and gastrointestinal tract. Gastrointestinal findings of various severity occur in 50 to 85% of the cases. We report on a 70-year-old woman who developed ileocaecal invagination and upper gastrointestinal haemorrhage as manifestations of Henoch-Schönlein purpura. CASE REPORT - The patient presented with two days history of palpable purpuric rash localized on the lower extremities. Based on the result of the skin biopsy, which showed leukocytoclastic vasculitis, IgA and C3 deposits, Henoch-Schönlein purpura was suspected. On the second night after admission colicky abdominal pain, vomiting and diarrhoea developed. Radiological examination showed an ileocaecal invagination and since symptoms deteriorated caecum resection and ileo-ascendestomy was performed. On the third postoperative day the patient became oligo-anuric, which was attributed to her Henoch-Schönlein disease, and systemic steroid pulse therapy was given. One month after the admission the patient experienced haematochezia. Emergency upper endoscopy revealed petechiae, haemorrhagic erosions and mucosal oedema, primarily in the descending part of the duodenum. Since these lesions were also considered as presentations of Henoch-Schönlein disease, another bolus of parenteral steroid was administered. Upper endoscopy repeated 3 days later showed remarkable improvement of the gastric and intestinal lesions. CONCLUSION - Gastrointestinal symptoms are common manifestations of Henoch-Schönlein purpura, thus their recognition, in which endoscopy plays a crucial role, is of major importance. Methylprednisolone pulse therapy is an effective therapeutic option not only in the management of severe renal or joint symptoms, but also in the treatment of gastrointestinal manifestations.]

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[Patients with chronic liver disease, mostly the elderly, due to their impaired immune response, frequently suffer from infections worsening the clinical course. This is sometimes overlooked in the everyday praxis. In patients with alcoholic liver disease both hepatitis A virus (HAV) and acute hepatitis B virus (HBV) infections can lead to fulminant hepatic failure, therefore their immunization with HAV and HBV vaccines is highly recommended, similarly, vaccination against flu and pneumococcus also may be indicated for alcoholics. In chronic viral hepatitis, alcohol abuse can result in rapid progression to cirrhosis and reduces the efficacy of antiviral treatment. Patients with chronic hepatitis C should also be vaccinated against superinfections by HAV and HCV. Co-infections by hepatotropic viruses and human immundeficiency virus (HIV) are frequent due to the shared routes of transmission. In HIVpositive patients the efficacy of the vaccination against HAV and HBV depends on the CD4 cell count, which also determined the timing of anti- HBV or anti-HCV treatment. Concerning the bacterial infections, spontaneous bacterial peritonitis (SBP) is the most severe complication of cirrhosis. The prevention of SBP is orally administered, moderately absorbed quinolon (norfloxacin) as long-term selective intestinal decontamination against Gram-negative pathogens. Alcoholic patients are also susceptible for tuberculosis. Bacterial infections play a role even in portal hypertension and variceal rupture, furthermore, both gastrointestinal haemorrhage and invasive endoscopic procedures increase the risk of infection, therefore in such situations a short-term (5- 8 day) antibiotic profilaxis is necessary with norfloxacin or ciprofloxacin. Taking into consideration these points of view, it may be of privotal significance for the management of patients with liver disease.]

Clinical Neuroscience

Cases of inborn errors of metabolism diagnosed in children with autism

CAKAR Emel Nafiye, YILMAZBAS Pınar

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.

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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

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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.

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

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

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