Invasive fungal infections (IFI) are one of the most severe complications of treatment in patients with acute myeloid leukaemia (AML) that are diagnosed during the myelosuppression period following intensive chemotherapy. Due to a high mortality rate reaching up to 30–70%, IFI require an adequate prevention, and once an active infection is diagnosed – a rapid diagnosis and an effective antifungal therapy. Modern therapy models are based on expensive treatment regimens and are often associated with long-term hospitalization and the need for intensive supportive treatment.
In 1854 Paget described for the first time that carpal tunnel syndrome (CTS) results from compression of the median nerve within the carpal tunnel. CTS predominantly involves tingling and numbness in the typical median nerve distribution. Pain, described as deep, aching, or throbbing, occurs diffusely in the hand and radiates up the forearm. Atrophy of the muscles of the thenar is usually seen later in the course of the nerve compression. CTS is most frequent among persons between the ages of 30 to 60 and is two to three times more common in women than in men (peak prevalence in women older than 55 years). Carpal tunnel syndrome may affect 1% to 10% of the population. Incorrect diagnosis of CTS has been identified as one of the most common causes of CTS treatment failure. CTS should be diagnosed clinically. Electro-diagnostic studies are a standard method of establishing the diagnosis. Electrodiagnostic studies are performed to confirm the clinical diagnosis, to assess the severity of median nerve compression and to rule out more proximal compression sites. Abnormalities in nerve conduction study results can be the only objective evidence of carpal tunnel syndrome. Lack of objective data, such as ENG can lead to incorrect diagnosis and inappropriate treatment. Clinical diagnosis should be reinforced by valuable diagnostic tests: the Semmes–Weinstein monofilaments test – performed in neutral and Phalen’s positions, vibration threshold measured by means of tuning forks or a vibrometer, by observation of thenar atrophy and using provocative tests. The use of common, sensitive and specific diagnostic tests should improve decision making about patients referral for specific therapies, facilitate the performance of epidemiologic studies, increase the accuracy of diagnosis. The combination of a results obtained using various methods might be more powerful than a single test in establishing the diagnosis of CTS. The combination of hand diagram, questionnaires, abnormal sensibility, thenar weakness or thenar atrophy and positive provocative tests constitutes a sensitive and specific diagnostic tool to establish the diagnosis of CTS. Standardized clinical criteria for CTS would be an important step in reducing inconsistencies and misdiagnoses.
Creutzfeldt-Jakob disease (CJD) belongs to a group of transmissible spongiform encephalopathies in which neuropathological confirmation is needed for a definite diagnosis. Based on clinical symptoms, the disease can be characterized only as possible or probable. The diagnostic criteria for sporadic CJD (sCJD) approved by the World Health Organization include 14-3-3 protein as a marker detectable in the cerebrospinal fluid (CSF). Since 2010, also magnetic resonance FLAIR or DWI imaging has been included in the criteria for sCJD. 14-3-3 protein is a normal neuronal protein released to the CSF as a result of extensive neuronal damage. As it is a non-specific marker, a positive result gives no information about the reason of the neuronal death. The test for 14-3-3 protein is useful only when considered in an appropriate clinical context, together with other diagnostic criteria. In certain conditions, false negative as well as false positive results are possible. The 14-3-3 protein is detected in about 90% of sporadic CJD cases, whereas the result is positive in only 50% of variant CJD patients, therefore this analysis is less useful in the diagnostics of vCJD.
PL
Choroba Creutzfeldta-Jakoba (CJD) należy do grupy chorób wywoływanych przez priony, w których do ustalenia definitywnego rozpoznania konieczne jest badanie neuropatologiczne mózgu. Przyżyciowo można chorobę zdiagnozować jako możliwą lub prawdopodobną, zgodnie z kryteriami zalecanymi przez Światową Organizację Zdrowia. W kryteriach diagnostycznych dla sporadycznej postaci CJD (sCJD) uwzględniono marker biochemiczny – dodatni wynik testu na obecność białka 14-3-3 w płynie mózgowo-rdzeniowym. W nowych zmodyfikowanych kryteriach dla sCJD, obowiązujących od 2010 roku, znajduje się również badanie mózgu metodą rezonansu magnetycznego wykonanego w sekwencji FLAIR lub DWI. Białka z grupy 14-3-3 są prawidłowymi białkami neuronalnymi, uwalnianymi do płynu mózgowo-rdzeniowego na skutek obumierania komórek, jest to zatem nieswoisty marker śmierci neuronów. Czułość testu na obecność białka 14-3-3 może być wysoka, zależy jednak od podtypu molekularnego, tempa rozwoju choroby i etapu choroby, na którym wykonano nakłucie lędźwiowe. Dodatni wynik testu pozwala na zmianę klasyfikacji choroby z możliwej na prawdopodobną, ale tylko w połączeniu z innymi kryteriami diagnostycznymi. Rozpatrywanie wyniku – zarówno ujemnego, jak dodatniego – w oderwaniu od kontekstu klinicznego może wprowadzać w błąd. Białko 14-3-3 wykrywa się w około 90% przypadków sCJD oraz jedynie w 50% przypadków wariantu CJD (vCJD), zatem w vCJD badanie posiada dużo mniejsze znaczenie.
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