Respiratory failure in a term newborn due to compound heterozygous ABCA3 mutation: the case report of another lethal variant.

Inherited disorders of surfactant metabolism are manifested in neonatal period as a severe respiratory failure not responding to exogenous surfactant administration. We illustrate the case of a term newborn with respiratory failure because of compound heterozygous mutation in adenosine triphosphate-binding cassette transporter A3 (ABCA3)-in exon 24 M1227R and in exon 29 Ins1510fs/ter1519. These mutations of ABCA3 have not been described yet and expand the group of lethal ABCA3 variants.

[Umbilical cord blood soluble Toll-like receptor 2 in pregnancies complicated by preterm premature rupture of membranes]. / Solubilní Toll-like receptor 2 v pupecníkové krvi u tehotenství komplikovaných predcasným odtokem plodové vody.

OBJECTIVE: To determine whether umbilical cord blood concentrations of soluble Toll-like receptor (sTLR2) is of value in the diagnosis of histological chorioamnionitis (HCA) and funisitis in pregnancies complicated by preterm premature rupture of membranes. DESIGN: Retrospective study. SETTING: Charles University in Prague, Faculty of Medicine and University Hospital, Hradec Kralove, Department of Clinical Immunology and Allergy, Department of Obstetric and Gynecology. METHODS: Eighty six women with PPROM between gestation ages 24 and 36 weeks were included in the study. The samples of the umbilical cord blood were taken from the clamped umbilical cord immediately after delivery of the newborn. The placenta, fetal membranes and umbilical cord were evaluated for the presence of inflammatory changes. The concentrations of sTLR2 in the umbilical cord blood were measured by ELISA method. RESULTS: Women with HCA did not have different umbilical cord blood sTLR2 levels than women without HCA (with HCA: median 7.6 ng/mL, interquartile range [IQR] 5.1 - 12.3 vs. without HCA: median 8.0 ng/mL, IQR 6.0 - 9.4; p = 0.79). No differences between women with and without funisitis were found (median 7.2 ng/mL, IQR 5.5 - 22.3 vs. without funisitis: median 7.9 ng/mL, IQR 5.2 - 10.5; p = 0.31). CONCLUSION: Umbilical cord blood sTRL2 levels are not affected by the presence of either HCA or funisitis in pregnancies complicated with PPROM.

Low expression of NQO1 predicts pathological complete response to neoadjuvant chemotherapy in breast cancer patients treated with TAC regimen.

The aim of this study was to evaluate preoperative tumour expression of NAD(P)H:quinone oxidoreductase 1 (NQO1) along with other biological markers as potential predictors of pathological complete response (pCR) to neoadjuvant docetaxel, doxorubicin, and cyclophosphamide-containing (TAC) chemotherapy in patients with primary breast cancer. Sixty-one patients who received neoadjuvant chemotherapy (NCT) with TAC regimen were enrolled in this prospective study. The pre- and post- NCT expression of oestrogen receptor (ER), progesterone receptor (PR), epidermal growth factor receptor 1 and 2 (EGFR and HER2), NQO1, Ki-67 proliferation index, multidrug resistance protein 1 (MDR1), p53 and BCL2 were evaluated by immunohistochemistry. The pCR was reached in 14 patients (23 % of the study group). Multivariate analysis demonstrated that patients with ER-, PR-, NQO1- negative, and Ki-67-positive tumours had a significantly higher chance to achieve pCR. Within the biological subtypes, the highest pCR rate (50 %) was seen in triple-negative (i.e. ER-, PR-, HER2-) tumours. Post-operative evaluation showed that in comparison to pre-operative tissue samples, NQO1 expression was significantly increased, while Ki-67 and HER2 decreased, in the residual tissue after NCT. In conclusion, the present data suggests that NQO1 expression may be a novel diagnostic biomarker for the prediction of positive response to NCT in patients with breast cancer.

Predictive biomarkers in breast cancer: their value in neoadjuvant chemotherapy.

Neoadjuvant chemotherapy (NCT) of breast cancer enabled improved outcomes especially in patients with advanced and inflammatory diseases. Biological heterogeneity of these tumors, however, requires better molecular characterization of the malignant tissue with consequent individualization in the selection of appropriate agents. To date, numerous molecular markers have been identified, and some of them (e.g., measurement of hormonal or growth factors receptors) are already routinely used for breast cancer classification before NCT. In the present article, we summarize current knowledge about established as well as promising biomarkers which have demonstrated prognostic or predictive value in NCT of breast cancer.

[Good's syndrome (thymoma associated hypogammalobulinaemia) - 2 case reports]. / Gooduv syndrom (s thymomem spojená hypogamaglobulinemie) - 2 kazuistiky.

Although tumours of the thymus are rare, they are common among neoplasms of the anterior superior mediastinum. They usually exhibit indolent behavior, but do have the capacity to invade surrouding structures. Their metastatic potential is low. Paraneoplastic complications including autoimmune disorders (frequently myastenia, cytopenia) or combined immunodeficiency are of clinical significance. Here we report two case reports of thymoma patients associated with secondary immunodeficiency known as Goods syndrom. The first case exhibited as symptomatic combinated immunodeficiency with oral lichen planus. Thymoma findings was accidental. Severity of immunodeficiency required long-term intravenous immunoglobulins supplementations, even after complete surgical resection. On the other hand, the second case manifested by signs of advanced local tumour growth. Antibiotic prophylaxis was selected as immunodeficiency treatment.

[Predictive factors for non-sentinel lymph nodes affection in breast carcinoma--outcomes of a Czech multicenter study of sentinel lymph nodes]. / Prediktivní faktory postizení nonsentinelových uzlin u karcinomu prsu--závery ceské multicentrické studie sentinelových uzlin.

BACKGROUND: The aim of the study was to assess positivity nonsentinel lymph nodes in patients with macro, micro and submicrometastases in sentinel lymph nodes and find predictive factors of positivity nonsentinel lymph nodes. Study was conducted at the Department of Surgery in Pardubice, Pilsen, Ostrava and Zlín. MATERIAL AND METHODS: Sentinel lymph nodes were assessed based on standards of Czech Pathological Society. Detection of sentinel lymph nodes was performed based on radionavigation or combination of radionavigation and blue dye method. RESULTS: In group N1 (macrometastases) there was found positivity of nonsentinel lymph nodes in 50% (45 from 90 patients). In group N1 Mi (micrometastases) there was found positivity of nonsentinel lymph nodes in 26.7% (16 from 60 patients). In group NO I+ (sub-micrometastases) there was found positivity of nonsentinel lymph nodes in 6.7% (1 from 15 patients). Predictive factors were size of metastasis, number of positive sentinel lymph nodes and grading. Size of tumor was not found to be a predictive factor of positivity nonsentinel lymph nodes. DISCUSSION: High positivity of nonsentinel lymph nodes in pacients with macro and micrometastases in sentinel lymph nodes advocates to perform axillary lymph nodes dissection. Due to small number of patients with submicrometastases it is not possible to assess if axillary dissection is necessary or not. Predictive factors of positivity of nonsentinel lymph nodes are size of metastasis in sentinel lymph nodes, number of positive sentinel lymph nodes and grading. Size of tumor was not found to be a predictive factor due to small tumors in the study. In spite of this it is necessary to consider it like a predictive factor of positivity nonsentinel lymph nodes. CONCLUSION: In patients with macro and micrometastases it is necessary to perform axillary dissection. In patients with submicrometastases in sentinel lymph nodes it is necessary to consider predictive factors.

[Amniotic fluid heat shock protein 70 concentration in preterm premature rupture of membranes]. / Heat shock protein 70 v plodové vode u pacientek s predcasným odtokem plodové vody.

OBJECTIVE: The purpose of this study was to determinate the changes of amniotic fluid HSP 70 concentrations in patiens with preterm premature rupture of the membranes, and in the presence of intraamniotic infection and histological changes of inflammations. DESIGN: Prospective study. SETTING: Department of Obstetrics and Gynecology Medical Faculty Charles University Hradec Králové. METHODS: We studied 30 women between 24 and 36 weeks of gestation with preterm premature rupture of the membranes. Samples of amniotic fluid were collected by transabdominal amniocentesis. These patients were divided into 2 groups. In group 1 were patiens with intraamniotic infection. In group 2 were patiens without intraamniotic infection. Among 76% (35/30) patients placenta were collected and assessed for presence or absence acute inflammatory lesions. HSP70 concentration in amniotic fluid were determined using a sensitive and specific diagnostic kit Hsp 70- ELISA kit manufactered Assay Desings, USA. RESULTS: There was no significant difference in the median amniotic fluid HSP70 concentration between patients with preterm rupture of the membranes with IAI and without IAI (patients with IAI: median 5.12 ng/ml, range 3.01-90.37 ng/ml vs. patients without IAI: median 4.68 ng/ml, range 0.58-84.28 ng/ml; p = 0.56). There was no significant difference in the median amniotic fluid HSP70 concentration between patients with preterm rupture of the membranes with presence and absence histological of acute inflammatory lesions in the placenta and membranes (patients with presence: median 6.97 ng/ml, range 2.61-90.37 ng/ml vs. patients with absence: median 4.63 ng/ml, range 0.58-84.28 ng/ml; p = 0.68). CONCLUSION: Intraamniotic levels HSP70 were not associated with intraamniotic infection and acute inflammatory lessions in the placenta and membranes.

[New trends in diagnostics and classification of breast carcinoma]. / Co je nového v diagnostice a klasifikaci karcinomu prsu.

Authors report a review of current issues in morphological, immunohistochemical and molecular-genetic diagnostics of breast carcinoma. In particular, classification of tumors based on molecular profiling (luminal, HER-2 positive, triple-negative), frequency of HER-2 positive tumors in population, as well as new approaches and pitfalls in HER-2/neu diagnostics, including current recommendations for performing the tests in the Czech Republic are discussed.

[Amniotic fluid interleukin 6 levels in preterm premature rupture of membranes]. / Interleukin 6 v plodové vode pacientek s predcasným odtokem plodové vody.

OBJECTIVE: The purpose of this study was to determinate the changes of amniotic fluid interleukin 6 (IL-6) concentrations in patients with preterm premature rupture of the membranes (PPROM), and in the presence of microbial invasion of the amniotic cavity (MIAC) and histological chorioamnionitis (HCA). The aim was to examine amniotic fluid IL-6 in relation to MIAC and HCA. DESIGN: Prospective study. SETTING: Department of Obstetrics and Gynecology Medical Faculty Charles University Hradec Králové. METHODS: We studied 37 women between 24 and 36 weeks of gestation with PPROM. Samples of amniotic fluid were collected by transabdominal amniocentesis. Polymerase chain reaction for the genital mycoplasmas and culture for aerobic and anaerobic bacteria were performed. Twenty-eight of 37 patients placentas were collected and assessed for presence or absence HCA. IL-6 concentration in amniotic fluid were determined using a sensitive and specific diagnostic kit Human IL-6 Quantikine ELISA manufactured R&D Systems, USA. RESULTS: There was significant difference in the median amniotic fluid IL-6 concentration between patients with preterm rupture of the membranes with and without MIAC and HCA (patients with MIAC and HCA: median 915 pg/ml, range 651-1854 pg/ml vs. patients without MIAC and HCA: median 780 pg/ml, range 184-1059 pg/ml; p=0.047). There was no significant difference in the median amniotic fluid IL-6 concentration between patients with preterm rupture of the membranes with and without MIAC (patients with MIAC: median 915 pg/ml, range 195-1854 pg/ml vs. patients without MIAC: median 792 pg/ml, range 184-1993 pg/ml; p=0.53). There was no significant difference in the median amniotic fluid IL-6 concentration between patients with preterm rupture of the membranes with and without HCA (patients with HCA: median 829 pg/ml, range 195-1992 pg/ml vs. patients without HCA: median 768 pg/ml, range 184-1890 pg/ml; p = 0.31). CONCLUSION: Amniotic fluid IL-6 concentrations patients with PPROM with presence HCA and MIAC were significantly higher than IL-6 concentration patients without HCA and MIAC.

Mucoepidermoid carcinoma of the breast.

Mucoepidermoid carcinoma of the breast is a very rare type of neoplasm with a very distinct histology, immunohistochemistry as well as prognostic characteristics. Two cases of this type of breast carcinoma are presented. Both tumors were microscopically composed of intermediate, epidermoid and glandular cells. The first case was a high grade tumor with focal necroses, where epidermoid and mucinous cells were found only as isolated elements. The second case was of low grade, the squamous cells showed keratinization and glandular cells formed distinct small lumina. The prognostic characteristics, differential diagnosis, grading system and immunohistochemical profile of these rare neoplasms are described.

[Lymphoepithelial cyst of the thyroid coexistent with amyloid goiter]. / Lymfoepiteliální cysta branchiogenního typu v terénu masivni amyloidózy stítné zlázy.

A case of amyloid goiter in a 73-year-old man with systemic amyloidosis complicating long lasting rheumatoid arthritis is reported. The thyroid gland was massively infiltrated with amyloid and contained foci of fat tissue and epithelial solid cell nests. Incidentally, a cyst lined by squamous epithelium, with small amount of lymphocytes in the subepithelial stroma was found. This cyst fulfilled the criteria for the diagnosis of a lymphoepithelial cyst presumably of branchiogenic origin. The herein described case of simultaneous occurrence of branchiogenic cyst and amyloid goiter represents, to our best knowledge, a unique coexistence of these two entities. The possible relationship between these lesions and their differential diagnosis is discussed.