Zmieniające się cechy sonograficzne zespołu Aperta w diagnostyce prenatalnej – opis przypadku i przegląd literatury

Abstract Apert syndrome is characterized by craniosynostosis, midfacial malformations and symmetrical syndactyly of the hands and feet. We report a case of prenatal sonographic diagnosis of Apert syndrome. Mild ventriculomegaly with normal head shape observed at 22 weeks gestation, followed by colpocephaly at 25 weeks gestation and bilateral syndactyly and subsequent craniosynostosis at 28 weeks, led to the prenatal diagnosis of Apert syndrome. The diagnosis was confirmed by physical examination and molecular study after birth. Additionally, the authors present the review of literature on prenatal sonographic diagnosis of Apert syndrome.Streszczenie Zespół Aperta charakteryzuje się występowaniem kraniosynostozy, wad twarzoczaszki oraz symetrycznego palcozrostu u rąk i stóp. W pracy przedstawiono przypadek prenatalnego rozpoznania zespołu Aperta w badaniach ultrasonograficznych. Objawy ultrasonograficzne takie jak: powiększenie komór bocznych mózgu w 22 tygodniu ciąży przy prawidłowym kształcie głowy, następnie kolpocefalia w 25 tygodniu ciąży oraz obustronny palcozrost i kraniosynostoza w 28 tygodniu ciąży, doprowadziły do prenatalnego rozpoznania zespołu Aperta. Rozpoznanie zostało ostatecznie potwierdzone w badaniu molekularnym wykonanym po urodzeniu się dziecka. Ponadto autorzy przedstawili przegląd piśmiennictwa dotyczącego sonograficznej prenatalnej diagnostyki zespołu Aperta

Interactions between variation in candidate genes and environmental factors in the etiology of schizophrenia and bipolar disorder : a systematic review

Schizophrenia and bipolar disorder (BD) are complex and multidimensional disorders with high heritability rates. The contribution of genetic factors to the etiology of these disorders is increasingly being recognized as the action of multiple risk variants with small effect sizes, which might explain only a minor part of susceptibility. On the other site, numerous environmental factors have been found to play an important role in their causality. Therefore, in recent years, several studies focused on gene × environment interactions that are believed to bridge the gap between genetic underpinnings and environmental insults. In this article, we performed a systematic review of studies investigating gene × environment interactions in BD and schizophrenia spectrum phenotypes. In the majority of studies from this field, interacting effects of variation in genes encoding catechol-O-methyltransferase (COMT), brain-derived neurotrophic factor (BDNF), and FK506-binding protein 5 (FKBP5) have been explored. Almost consistently, these studies revealed that polymorphisms in COMT, BDNF, and FKBP5 genes might interact with early life stress and cannabis abuse or dependence, influencing various outcomes of schizophrenia spectrum disorders and BD. Other interactions still require further replication in larger clinical and non-clinical samples. In addition, future studies should address the direction of causality and potential mechanisms of the relationship between gene × environment interactions and various categories of outcomes in schizophrenia and BD

Uncommon constellation of multiglandular deficiency with 2 mutations in AIRE gene in an 18-year-old girl — 12 years of observation

Zespoły autoimmunologicznej niewydolności wielogruczołowej (APS) składają się z różnych zaburzeń, zarówno endokrynnych, jak i nieendokrynnych. Zespoły te są złożone i występują z różnymi objawami. Wczesne wykrycie zaburzeń może zapobiec wielu poważnym skutkom klinicznym, które są zazwyczaj wynikiem opóźnionego rozpoznania. W pracy przedstawiono przypadek pacjentki, której objawy kliniczne przemawiają za zespołem autoimmunologicznej niewydolności wielogruczołowej. W ciągu 12 lat obserwacji i leczenia, autoimmunologiczne tło, z wyjątkiem stwierdzenia podwyższonego miana przeciwciał przeciw peroksydazie i przeciw tyreoglobulinie, nie zostało potwierdzone, podobnie jak krytyczna mutacja w genie AIRE. U pacjentki zidentyfikowano 5 polimorfizmów i 2 mutacje w eksonie 1 genu AIRE. (Endokrynol Pol 2014; 65 (6): 514–518)Autoimmune polyglandular syndromes (APS) consist of a variety of endocrine and non-endocrine disorders. The syndromes are complex and their occurrence in life does not follow any pattern. Early detection of such disorders may prevent many serious clinical consequences which are usually a result of delayed diagnosis. We present the case of a female patient whose clinical symptoms very strongly suggested APS, however neither autoimmune background except elevated anti-thyroid peroxidase and anti-thyroglobulin antibodies of multiglandular deficiency, nor critical mutations in the AIRE gene have been confirmed or detected, yet we identified five polymorphisms and two mutations in exon1 of gene AIRE during 12 years of observation and treatment. (Endokrynol Pol 2014; 65 (6): 514–518

Early changes on computed tomography and clinical quantitative data in acute ischemic stroke

Wstęp. Celem pracy była jakościowo-topograficzna analiza zmian w tomografii komputerowej (CT, computed tomography) głowy we wczesnym okresie udaru mózgu, z weryfikacją ewolucji ogniska niedokrwiennego w 5. dobie udaru, odniesieniem wyników badań obrazowych do stanu klinicznego w 1. i 30. dniu choroby oraz ewentualnymi wnioskami prognostycznymi. Materiał i metody. Badaniami objęto 55 chorych (22 kobiety i 33 mężczyzn) w wieku 21-81 lat (średnio 53 lata), z rozpoznaniem udaru niedokrwiennego w obszarze tętnicy środkowej mózgu. Badanie CT wykonywano za pomocą aparatu CT Somatom PLUS 4 firmy Siemens w pierwszych 12 godzinach (CT1) oraz w 5. dobie (CT2) udaru. Stan kliniczny oceniano w 1. i 30. dobie choroby według skali Orgogozo i Rankina. Wyniki. U 65 % chorych zmiany niedokrwienne o różnym stopniu nasilenia ujawniły się w CT już w pierwszych 12 godzinach choroby. W około 2/3 przypadków z rozległą strefą hipodensyjną w CT1, obejmującą ponad 1/3 obszaru zaopatrywanego przez tętnicę środkową mózgu (MCA, Midlle Cerebral Artery), nastąpiło wtórne ukrwotocznienie ogniska zawałowego. Wnioski. Znaczny stopień niesprawności i większa śmiertelność w przebiegu udaru wiążą się z rozległymi lub ograniczonymi do jąder podstawy zmianami niedokrwiennymi, które ujawniają się w badaniu obrazowym (CT1) w pierwszych 12 godzinach choroby. Brak wczesnych zmian niedokrwiennych w CT lub też zmiany ograniczone jedynie do kory mózgowej mają korzystne znaczenie rokownicze.Introduction. Localization, quality and evolution of early computed tomography (CT) signs in acute ischemic stroke were analyzed within the first hours and after 5 days. The aim of our study was to opinion prognostic value of CT changes for the clinical findings. Material and methods. The examined group consisted of 55 patients (22 females and 33 males) aged 21&#8211;81 years (mean age 53 years) presented clinical signs of acute ischemic stroke involving the MCA territory. Using CT Somatom PLUS 4 by Siemens computer tomography of brain was performed during the first 12 hours (CT1) and after 5 days (CT2). The clinical features were scored immediately after admission (according to the Orgogozo scale) and after one month (according to the Orgogozo scale and Rankin scale). Results. The initial CT scan showed early hypodensity in 36 patients (65.5%) and hyperdense midlle cerebral artery (MCA) sign in 9 patients (16%). Large hypodensity (> 1/3 MCA territory) was found in 29% (n = 16) cases, small (< 1/3 MCA territory) cortical hypodensity in 22% (n = 12) and small subcortical in 14.5% (n = 8). Computed tomography CT2 showed large infarct in 62% (n = 34), small infarct in 35% (n = 19) and lacunar in 3.6% (n = 2). Large infarct at CT 2 developed among all patients with large early hypodensity, above 50% with small early hypodensity and 37% with normal CT1. Small infarct at CT2 was observed among 9 patients with small early lesion at CT1 and 10 patients with normal CT1. Hemorrhagic transformation occurred in 16 patients (29%). In 11 of these 16 cases CT1 demonstrated large hypodensity and in 5 cases - HMCAS. Nine patients died during 30 days. In 5 of these patients CT1 detected large hypodensity, small subcortical lesion in 2 patients, small cortical lesion in 1 patient and was normal in 1 patient. Large hypodensity and small subcortical lesion at CT1 were associated with sevxere Orgogozo scores. The 31 patients with initial moderate neurological deficit had normal CT1 or small cortical hypodensity. A poor outcome (Rankin scale graded 4&#8211;5 or death) at 30 days after stroke was associated with large hypodensity, small subcortical hypodensity and HMCAS. Conclusion. 1. Early CT signs during first 12 hours occur in 65.5% cases of acute ischemic stroke. 2. Hemorrhagic transformation develops of 2/3 patients with early large hypodensity. 3. Early large hypodensity or small subcortical lesion were preferably seen in patients who died within 30 days after stroke or exhibited at the same time severe neurological deficit. 4. Normal initial CT scan and the presence of small cortical lesion were related with favourable outcome in ischemic stroke

Complex diagnostic imaging of acute ischemic stroke - case study

Wstęp. Udar niedokrwienny jest trzecią pod względem częstości przyczyną zgonów w krajach rozwiniętych. W obliczu możliwości leczenia trombolitycznego istotna jest prawidłowa kwalifikacja pacjentów, a najlepszymi kandydatami do trombolizy są ci chorzy, u których strefa penumbry znacznie przewyższa obszar zawału. Opis przypadku. W pracy przedstawiono opis przypadku pacjenta hospitalizowanego z powodu objawów udaru niedokrwiennego w obszarze unaczynienia tętnicy środkowej mózgu (MCA, middle cerebral artery) lewej. Przeprowadzono u niego badanie tomografii komputerowej (CT, computed tomography) głowy, a następnie perfuzji CT, dyfuzji rezonansu magnetycznego (DWI, diffusion-weighted imaging) oraz angiografii MR (angio-MR). W badaniu CT uwidoczniono wczesne cechy udaru niedokrwiennego; w perfuzji CT stwierdzono, że penumbra znacznie przeważa nad zawałem; w angio-MR uwidoczniono upośledzenie przepływu w tętnicy szyjnej wewnętrznej (ICA, internal carotid artery) i MCA po stronie lewej. Na podstawie wykonanej serii badań zrezygnowano z trombolizy systemowej na rzecz dotętniczej. Wnioski. Protokół diagnostyczny zawierający badanie podstawowe (CT), funkcjonalne (np. perfuzji CT) oraz naczyniowe (angiografia CT, angio-MR) pozwala zobrazować rozległość zaburzeń niedokrwiennych (penumbra/zawał) i patologię dotyczącą naczyń, co jest pomocne w kwalifikacji do trombolizy, a zwłaszcza w podjęciu decyzji o sposobie podania preparatu trombolitycznego.Introduction. Ischemic stroke is the third most frequent cause of death in developed countries. Nowadays, when thrombolytic treatment is available, a proper qualification of patients is very important and the best candidates to thrombolysis are the patients in whom area of penumbra is larger than area of stroke. Case report. We present a case of patient hospitalized due to symptoms of acute ischemic stroke in area of left middle cerebral artery (MCA) territory. The patient underwent brain computed tomography (CT) followed by perfusion CT (CTP), magnetic resonance diffusion (DWI) and magnetic resonance angiography (MRA). CT revealed early signs of ischemic stroke; CTP demonstrated area of penumbra, which predominated over area of infarction; MRA revealed loss of flow within left internal carotid artery (ICA) and left MCA. Based on performed examinations intraarterial thrombolytic treatment was indicated, instead of systemic thrombolysis. Conclusions. Diagnostic protocol consisting of basic (CT), functional (e.g. CTP) and vascular examinations (CT angiography or MRA) may show extent of ischemic lesion (penumbra/infarction) and vascular pathology, that is helpful in qualification to thrombolytic treatment, particularly when undertaking decision, which method of thrombolysis should be used

The influence of radiation technique on xerostomia in head and neck cancer patients – prospective study

BackgroundIrradiation of salivary glands during the treatment of head and neck cancer may lead to an alteration in the amount of saliva produced. Because of this, patients can suffer dryness of the mouth with oral discomfort, taste disturbance and dental decay.AimThe aim of this study is to estimate late toxicity dependence on radiotherapy method. The main goal is to investigate the correlations between the radiation doses in salivary glands and their salivary excretion fractions (SEF) measured by dynamic scintigraphy.Materials/MethodsIn 40 patients with pharyngeal and laryngeal cancer irradiated by IMRT or conformal 3D to a total dose of 62.5–72.0Gy, parotid SEFs were measured. Parotid dose-volume histograms were obtained from 3D computer treatment planning. SEF measurements were performed before (baseline), and 6 weeks and 6 months after radiotherapy by 185MBq 99 Tc injected intravenously and next SEF rates were analysed in relation to radiation doses accumulated. The late radiation toxicity of salivary glands was tested according to the CTC v. 3.0 and SOMA-LENT scales. The non-parametric Mann Whitney test was used for the estimation of relationships.ResultsPre- and post-treatment SEFs were measured in 31 patients treated by IMRT and in 9 patients treated by 3D CRT. Six weeks after radiotherapy SEF was generally lower by 34%, and 6 months after irradiation by 29.3% in IMRT technique. In 3D CRT relatively it was lower: after 6 weeks by average 52% and after 6 months by 35.5%. Late radiation toxicity of salivary glands was observed at a similar level according to CTC and SOMA-LENT scales in both methods of radiotherapy.ConclusionsThe level of SEF in parotid glands measured 6 weeks after radiotherapy clearly reflects the dose-response relationship of irradiated salivary tissue; 6 months later changes of SEF are the result of partial recovery of parotids.The results of sparing salivary glands can be optimized in the future; that is, a further reduction of xerostomia can be achieved by using improved IMRT techniques and focusing on sparing major and minor salivary glands

Rapid-FISH – fast and reliable method of detecting common numerical chromosomal aberrations in prenatal diagnosis

Abstract Objective: In recent years, new possibilities of prenatal diagnosis have opened up, due to the development of techniques which guarantee shorter time of obtaining results. One of those methods, called Rapid-FISH (rapid fluorescence in situ hybridization), for detecting numerical aberrations of chromosomes 13, 18, 21, X and Y without culturing, enables to have the results in 2-5 days. The time necessary to obtain fetal karyotype result with the usage of the classical cytogenetic methods is about 2-3 weeks and depends mainly on the culture growth rate. Design: The aim of the study was to evaluate the effectiveness of the Rapid-FISH technique in detecting numerical chromosome aberrations of 13, 21, 18, X and Y in amniocytes’ nuclei from amniotic fluid. Materials and Methods: Rapid-FISH and cytogenetic analysis has been performed for 161 pregnancies in the Department of Genetics at Wroclaw Medical University during years 2005 and 2006. The FISH was performed using AneuVysion kit (Vysis), according to a standard protocol. Results: All normal and abnormal results were confirmed by classical cytogenetic method (GTG banding and karyotyping). Additional chromosomal aberrations, not possible to be detected in FISH, were observed in case of two patients with normal results from FISH analysis. Conclusions: Rapid-FISH is a reliable and fast method for detecting numerical chromosomal aberrations in prenatal diagnosis and should be implemented as a routine diagnostic procedure in pregnancies with high risk of fetal aneuploidy (of chromosomes 13, 18, 21, X i Y)

The First Evidence of Cryptosporidium meleagridis Infection in a Colon Adenocarcinoma From an Immunocompetent Patient

Objectives: The potential linkage between Cryptosporidium spp. infection and colorectal human cancer was suggested by limited reports showing higher prevalence of C. parvum and C. hominis in patients with colon cancer. Here we conducted research concerning presence of Cryptosporidium spp. in malignant tissue collected from patients with colorectal cancer.Methods: Cancerous colon tissue samples collected from 145 non-HIV infected patients with colorectal cancer were screened for Cryptosporidium spp. by immunofluorescence antibody test and genus-specific nested polymerase chain reaction followed by sequencing.Results: Screened pathogen was found in cancerous tissue originating from immunocompetent man with colon adenocarcinoma. Genotyping revealed presence of Cryptosporidium meleagridis. The presence of Cryptosporidium life cycle stages (oocysts and endogenous stages) in colon carcinoma tissue was confirmed by genus-specific FITC-labeling.Conclusions: Herein, we report on a C. meleagridis infection of a colon adenocarcinoma in an immunocompetent patient. This is the first report of C. meleagridis infection in the human colon and first evidence of active development of this species in cancer tissue

Wytyczne dla laboratoriów genetyki nowotworów litych

Niniejsze wytyczne skierowane są do laboratoriów wykonujących diagnostyczne badania genetyczne technikami biologii molekularnej i cytogenetyki molekularnej (FISH) w zakresie genetyki nowotworów litych zarówno w obszarze zaburzeń genetycznych dziedzicznych, jak i nabytych. Diagnostyczne badanie genetyczne jest wykonywane w celu identyfikacji zaburzeń w DNA komórek człowieka. Przestrzeganie niniejszych zasad ma na celu zapewnienie wysokiego poziomu usług medycznych świadczonych przez laboratoria