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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.

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.

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.

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