Ustav Klinicke A Molekularni Patologie

Olomouc, Czech Republic

Ustav Klinicke A Molekularni Patologie

Olomouc, Czech Republic
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Lokocova E.,III. Interni klinika NRE | Cibicek N.,Ustav Lekarske Chemie a Biochemie | Horak P.,III. Interni klinika NRE | Flodrova P.,Ustav Klinicke a Molekularni Patologie | Zadrazil J.,III. Interni klinika NRE
Osteologicky Bulletin | Year: 2016

Hypophosphatemia is a frequently overlooked laboratory finding as the signs are mostly non-specific. However, it causes considerable morbidity and may contribute to increased mortality of the affected patients. There are three main causes of hypophosphatemia: increased renal secretion, decreased intestinal absorption or transfer of phosphates from the extra- to the intracellular space. Presented is a rare case of acquired hypophosphatemic osteomalacia in a 68-year-old female presenting with pains in the spine, ribcage, long bones and pelvis. Biochemistry tests showed marked hypophosphatemia (0.49 mmol/L) and an elevated level of the bone isoenzyme of alkaline phosphatase (97 ug/L) with a considerably decreased renal phosphate threshold (0.58 mmol/L) and a markedly increased FGF-23 level (90.76 ng/L). A PET/CT scan showed viable tumor tissue in the posterior part of the sacrum. The tumor was neurosurgically removed. Histological examination showed a giant cell tumor requiring subsequent cancer therapy. The clinical condition improved considerably after treatment with potassium dihydrogen phosphate, calcium replacement and vitamin D3; the laboratory findings were less favorable. This is a typical example of tumor-induced osteomalacia. This relatively rare acquired osteomalacia usually accompanies benign mesenchymal tumors. It is caused by tumors producing phosphatonins, in particular FGF-23, inhibiting reabsorption of phosphorus in the proximal renal tubule and decrease calcitriol synthesis. Also discussed is the differential diagnosis of hypophosphatemia.

Pika T.,Hemato Onkologicka Klinika | Latalova P.,Ustav Klinicke a Molekularni Patologie | Hulkova H.,Ustav Dedicnych Metabolickych Poruch | Vlaskova H.,Ustav Dedicnych Metabolickych Poruch | And 3 more authors.
Ceska a Slovenska Neurologie a Neurochirurgie | Year: 2015

We present a case of a patient with familial amyloid polyneuropathy. A young patient with gradually progressing symptoms of peripheral neuropathy was initially diagnosed and treated for chronic inflammatory demyelinating polyneuropathy. Subsequent complications resulted in endoscopic examination of the digestive tract. Biopsy showed evidence of amyloid deposits. Subsequent comprehensive examination confirmed hereditary form of amyloid polyneuropathy on the basis of a rare mutation in the transthyretin gene in Val50AIa position. Family history revealed that the mother of the patient was treated for amyloidosis with neuropathic symptoms. Treatment with tafamidis meglumine prevented further disease progression, and was followed by orthotopic liver transplantation. At present, clinical condition of the patient gradually improves with regression of motor and sensory neuropathic symptoms.

Pika T.,III. Interni klinika NRE | Flodr P.,UStav Klinicke a Molekularni Patologie | Novak M.,Hematoonkologicka klinika | Lochman P.,Oddeleni klinicke biochemie | And 3 more authors.
Klinicka Biochemie a Metabolismus | Year: 2014

Monoclonal gammopathies associated with presence of IgM paraprotein form a heterogeneous group of diseases. Monoclonal gammopathy of undetermined significance (MGUS) of IgM type presents a potentially malignant condition with a risk of neoplastic transformation into a different type of lymphoproliferative disorder than the forms of MGUS with other paraprotein isotypes. Most often it transforms into Waldenstrom's macroglobulinemia, which is a lymphoproliferative disorder (lymphoplasmocyte lymphoma) with the production of IgM paraprotein. The disease is relatively indolent, requiring systemic treatment only in the case of significant tumor clone burden together with the presence of symptoms associated with high levels or certain qualitative characteristics of IgM protein. IgM multiple myeloma and IgM AL amyloidosis are rare disorders in the differential diagnostics of IgM paraproteinemia. Differentiation of individual conditions can be difficult, and requires the cooperation of several specialists.

Pika T.,III. Interni Klinika Nefrologicka | Lochman P.,Oddeleni Klinicke Biochemie | Flodr P.,Ustav Klinicke A Molekularni Patologie | Minarik J.,III. Interni Klinika Nefrologicka | And 3 more authors.
Klinicka Biochemie a Metabolismus | Year: 2013

Objective: The objective of this report is to point out the clinical importance of select biological indicators applied to diagnostics and monitoring of AL amyloidosis patients. In addition to the usual parameters such as urine analysis or the monoclonal immunoglobulin level assay, the benefits of free light immunoglobulin chains serum level assay and its application to treatment response evaluation are pointed out, as well as the benefits of heart indicator assays (troponins and natriuretic peptides) for the stratification of AL amyloidosis patients. A brief introduction of this rare diagnosis is also included in the report.

Drac P.,Traumatologicke oddeleni | Ehrmann J.,Ustav klinicke a molekularni patologie
Prakticky Lekar | Year: 2011

The glomus tumour is mostly a benign growth that most frequently occurs in the subungual area or within the pulp of the distal phalanx of the fingers. Its incidence is very rare. Glomus tumour is clinically characterized by - pain, - tenderness, and - cold sensitivity. Despite this typical manifestation, the correct diagnosis is mostly determined after several months or years, and patient is often repeatedly examined by physicians of various specializations. The glomus tumour can cause the blue discoloration of the nail or form a palpable nodule within the pulp. X-ray examination does not show the tumour directly but it can expose the bony defect in the distal phalanx. By contrast, MR Imaging can demonstrate well-bordered formation, thus helping to locate the tumour and select the appropriate surgical approach. MRI can also indentify the rare occurrence of multiple glomus tumours. Surgical extirpation of the tumour under local or general anaesthesia is the treatment of choice.

Latalova P.,Ustav Klinicke a Molekularni Patologie | Pika T.,Hemato onkologicka Klinika FN Olomouc | Flodr P.,Ustav Klinicke a Molekularni Patologie
Transfuze a Hematologie Dnes | Year: 2014

Patients with systemic AL amyloidosis are often diagnosed in advanced stages of the disease, although possibilities for detecting this disease and stratifying patients are still expanding and are not restricted only to specialized medical centres. This case report aims to draw attention to the topic from an unusual angle, namely that of the pathologist, supported by photo documentation. It details the case of a patient with greatly advanced disease, which was diagnosed only shortly before death in the stage of highly significant end-organ changes, three months following the first examination by a physician.

Fischer O.,Klinika plicnich nemoci a tuberkulozy | Kultan J.,Klinika plicnich nemoci a tuberkulozy | Kuliskova J.,Klinika plicnich nemoci a tuberkulozy | Grygarkova I.,Klinika plicnich nemoci a tuberkulozy | And 2 more authors.
Onkologie (Czech Republic) | Year: 2014

Carcinoid is a neuroendocrine tumour that can produce endocrine active substances. It represents 1-2 % of pulmonary tumours. Based on histopathological characteristics, it is divided into typical and atypical carcinoid, which also affects the prognosis. {11,18} Typical carcinoid (TC) has a favourable prognosis, is often found incidentally, and the five-year survival rate is over 90 %. Atypical carcinoid (AC) exhibits a more aggressive behaviour, more frequent metastasizing, and a lower five-year survival rate (40-60 %). {5,11} We followed up a group of 52 patients with a histologically confirmed diagnosis of carcinoid who were treated at our clinic in the years 2002 to 2013. Typical carcinoid was diagnosed in 35 patients (67 %) and 17 patients (33 %) had atypical carcinoid. The follow-up confirmed the incidence rates and prognosis of patients reported in the literature, while analyzing the options and efficacy of endobronchial treatment and the results of treatments for both types of tumours. Interestingly, a high incidence of double (as well as triple) malignancies was found in patients with atypical carcinoid (25 % of patients).

Smolka V.,Detska Klinika | Ehrmann Jr. J.,Ustav Klinicke A Molekularni Patologie | Tkachyk O.,Detska Klinika | Zapalka M.,Detska Klinika
Casopis Lekaru Ceskych | Year: 2014

Aim: In recent years, nonalcoholic fatty liver disease (NAFLD) and metabolic syndrome (MS) in children have increased in line with the increased prevalence of obesity. The aim of this retrospective study was to evaluate a relation between NAFDL and MS in children. Methods: NAFLD was defined as an elevation of serum transaminase level and hyperechogenic feature of liver on ultrasonography. MS definition was based on the diagnostic criteria of the International Diabetes Federation. The biopsies were done in patients with elevated transaminase levels lasting more than one year. Liver biopsy features were graded according to the NAFLD activity scoring (NAS) and Paediatric NAFLD Histological Score (PNHS). Results: NAFLD was diagnosed in 39 patients and MS was confirmed in 20 patients. The significant differences between patients with MS and without MS were found in the insulin resistance (IR) (P < 0,001), cholesterol levels (P < 0,04) and GGT levels (P < 0,05). Biopsies were done in 20 patients. MS was present in 10 children. No difference was found in the degree of steatosis and NAS in groups with and without MS. No differences were observed in the occurrence of MS diagnostic criteria between patients with and without nonalcoholic steatohepatitis which were evaluated by PNHS. Conclusion: Prediction factors for NAFLD are obesity, IR, dyslipidemia. NAFLD is frequently associated with MS. Liver biopsy is necessary for determination of NAFLD histological activity because no non-invasive examination defines the degree of liver pathology.

Mensikova K.,Neurologicka Klinika | Tuckova L.,Ustav Klinicke A Molekularni Patologie | Kanovsky P.,Neurologicka Klinika
Ceska a Slovenska Neurologie a Neurochirurgie | Year: 2016

Frontotemporal dementia (FTD) is a heterogeneous clinical syndrome Including behavioural variant FTD (favFTD) and primary progressive aphasia (PPA), which are clinically characterized by behavioural changes and impairment of executive functions and speech. Behavioural changes and speech disorders are often accompanied by motor symptomatology, including especially parkinsonism and/or symptoms of the upper and lower motor neuron involvement. These symptoms may be present in various combinations, thereby creating a very wide spectrum of clinical entities, some of which are precisely genetically and pathologically defined. Besides these few defined entities, there is a number of variable clinical phenotypes consisting of different combinations of behavioural and personality changes, speech disorders and symptoms of typical and atypical parkinsonism associated with different mutations and histopathologic findings. These phenotypes cannot be clearly classified according to their clinical picture and instead, they are placed somewhere within the dementia-parkinsonism continuum. In our paper, we present an overview of the current state of knowledge of possible clinical manifestations of parkinsonism and FTD and their genetic and pathological aspects.

Scudla V.,III. interni Klinika revmatologicka | Pika T.,III. interni Klinika revmatologicka | Latalova P.,UStav Klinicke a Molekularni Patologie | Flodr P.,UStav Klinicke a Molekularni Patologie | And 2 more authors.
Klinicka Biochemie a Metabolismus | Year: 2014

The paper is concerned with classification of amyloidosis and presenting clinical manifestations, examination methods and an effective diagnostic algorithm related to systemic AL amyloidosis. Greater attention is paid to current investigation techniques and their role in the differential diagnosis and stratification of systemic AL amyloidosis as a starting point for prognostic prediction and individual selection of therapy. The review has been prepared in the light of the 2013 Czech Myeloma Group recommendations "Diagnosis and Treatment of Systemic AL Amyloidosis".

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