Down-regulation of neuronal form of Nitric oxide synthase in the Nurse cell of Trichinella spiralis.

The free radical nitric oxide (NO) and Ca2+ are critical regulators of skeletal muscle exercise performance and fatigue. The major source of NO in skeletal muscle cells is the neuronal form of the enzyme Nitric oxide synthase (nNOS). One of the most peculiar characteristics of the Nurse cell of Trichinella spiralis (T. spiralis) is the complete loss of the contractile capabilities of its derivative striated muscle fiber. The aim of the present study was to clarify the expression of nNOS protein and mRNA in striated muscles during the muscle phase of T. spiralis infection in mice. Muscle tissue samples were collected from mice at days 0, 14, 24, and 35 post infection (d.p.i.). The expression of nNOS was investigated by immunohistochemistry, and the expression levels of mRNA of mouse Nitric oxide synthase 1 (Nos1) by real-time PCR. The presence of nNOS protein was still well observable in the disintegrated sarcoplasm at the early stage of infection. The cytoplasm of the developing and mature Nurse cell showed the absence of this protein. At least at the beginning of the Nurse cell development, Trichinella uses the same repairing process of skeletal muscle cell, induced after any trauma and this corroborates very well our results concerning the nNOS expression on day 14 p.i. At a later stage, however, we could suggest that the down-regulation of nNOS in the Nurse cell of T. spiralis either serves a protective function or is an outcome of the genetic identity of the Nurse cell.

Retroperitoneal abscess after urgent resection of the stomach in a geriatric patient treated with a surgical extraperitoneal approach - case report.

Retroperitoneal abscess after abdominal and retroperitoneal surgery is a relatively rare but serious complication that most often occurs as a result of a healing disorder in the postoperative period. The incidence is not high, in the literature the cases are mostly reported as case reports with a serious clinical course, high morbidity and mortality. The most important factor of effective treatment, after successful diagnosis by CT examination is rapid evacuation of the abscess and retroperitoneal drainage, in which mini-invasive surgical or radiological drainage dominate as methods of choice. Surgical drainage, burdened by higher morbidity and mortality is considered the last resort after failure of mini-invasive methods. In our case report, we present a case of retroperitoneal abscess, arising as a complication after gastric resection, which was evacuated and drained primarily surgically due to unsuitability for radiological intervention.

Proapoptotic and antiapoptotic stimuli alternation in myocardial infarction experimental model.

Myocardial infarction is a life-threatening complication of the coronary artery disease - the leading cause of premature death worldwide. The severity of this condition is the result of cellular death following the myocardial ischaemia, which occurs via several mechanism including apoptosis. For the research of this condition, animal models are often employed. We established isoprenaline-induced rat model of myocardial infarction, focusing on the immunohistochemical analysis of the expression of antiapoptotic and proapoptotic proteins BCL-2 and BAX, respectively. Apoptosis (based on BAX-positivity) was activated in cardiac muscle cells within the first day, later on day 8 also in fibroblasts of the forming scar tissue. Antiapoptosis in cardiac muscle cells was weak to moderate on the day 1 and 2, on the day 8 macrophages were strongly positive for BCL-2. The results confirmed that programmed cell death as well as mechanisms of antiapoptosis contribute to the pathogenesis of myocardial infarction. Previous research demonstrated that by experimentally affecting proapoptotic and antiapoptotic signals, it is possible to influence various aspects of myocardial infarction including: infarction size, cardiac remodelling and prognosis of the heart failure. Future research is warranted to fully elucidate the role of this process during myocardial infarction, which will result in refined diagnostic and therapeutic strategies (Tab. 1, Fig. 1, Ref. 21). Keywords: myocardial infarction, isoprenaline, apoptosis, necrosis, BCL-2, BAX.

Complex changes of circadian proteins expression in inflammatory bowel disease.

OBJECTIVES AND BACKGROUND: Recently, a possible role of circadian system in the pathogenesis of various gastrointestinal disorders gained an attention. The association of circadian system with immune system activity and reciprocal connection with intestinal microbiota indicate possible links with inflammatory bowel diseases (IBD). METHODS: The retrospective study provided a semiquantitative immunohistochemical analysis of the expression of 8 core circadian proteins (BMAL1, BMAL2, PER1, PER2, PER3, CLOCK, NPAS2 and TIMELESS) in the epithelial cells of intestinal mucosa in 24 patients with Crohn's disease (CD) and 26 patients with ulcerative colitis (UC). Samples from patients without history of IBD served as the control. The BMAL1 protein expression in intramucosal inflammatory cells was explored as well. RESULTS: The expression of 5 core circadian proteins (BMAL1, PER1, PER3, TIMELESS and NAPS2) was decreased in mucosal epithelium of patients with IBD in comparison with the control samples, whereas the expression of BMAL1 and PER1 was more noticeably decreased in UC patients and PER3, TIMELESS and NPAS2 in CD patients. There was a decreased BMAL1 expression in intramucosal inflammatory cells of IBD patients. CONCLUSION: Decreased core circadian proteins expression in colonic mucosa and in intramucosal inflammatory cells of IBD patients indicated a circadian rhythm deregulation as contributing factor in the development of IBD. To our knowledge, this is so far the most extensive immunohistochemical analysis performed on the samples of IBD patients evaluating the changes in circadian protein expression in the intestinal mucosa (Tab. 1, Fig. 2, Ref. 31).

Uveal melanoma survival rates after single dose stereotactic radiosurgery.

This paper presents the long-term results of single dose stereotactic radiosurgery for intraocular uveal malignant melanoma, and summarizes the results of the retrospective study in 170 Slovak patients. A group of uveal melanoma patients (149 choroidal melanoma, 21 ciliary body melanoma) from 20 to 92 years of age with 59 year median were treated in 2001-2016. There were 81males (47.7%) and 89 females 89 (52.3%). The median overall follow-up time was three years. The median tumor volume at baseline was 0.5 cm³ (ranging from 0.2 to 1.6 cm³). The therapeutic dose was 35.0 Gy by 99% of dose volume histogram. The survival after single dose stereotactic radiosurgery was 96% in one year, 93% in two years, 84% in five years, 80% in seven years and 52% in eleven years. Secondary enucleation was necessary for 22 patients because of secondary glaucoma complication. The enucleation free interval ranged from one to six years. The survival rates in five year intervals and necessity of secondary enucleation due to complications after single dose stereotactic radiosurgery is comparable to other techniques.

Prognostic value of apoptosis inducing factor in uveal melanoma.

In malignant tumors including uveal melanoma there is a continuous effort in search for additional and relevant factors with predictive value and possible therapeutic indications. In the present work we evaluated the 5-year mortality in a group of patients with surgically treated uveal melanoma and its relation to selected demographic, clinical and histopathological parameters, including the expression of apoptosis inducing factor (AIF) in the neoplastic tissue.We analyzed retrospectively the clinical data of patients with uveal melanoma treated surgically (enucleation, endoresection, exenteration) in the period from 2001 to 2007 (n=54). Immunohistochemical detection of AIF expression in formalin fixed and in paraffin embedded tissue samples was evaluated semiquantitatively, intensity and percentage multiplicative Quick Score (QS) was calculated and compared between patients with over 5 year (n=32) and less than 5 year (n=22) survival. In the analyzed group of 54 patients the 5 year mortality was 41 %. We confirmed the negative prognostic significance of some of the known prognostic factors as the tumor size and volume, T3 and T4 stage in the TNM classification and the mixed histological type of the tumor. Immunohistochemistry performed on 49 melanoma specimens showed AIF cytoplasmic positivity, no nuclear translocation was detected. The cut-off value of AIF expression QS ≥ 4 (18) in tumor cells separated the 5 year survival of patients (P = 0.018), odds ratio 5.2 (1.24 - 21.73). Moderate and strong expression of AIF in tumor cells also correlated with less favorable prognosis. Confocal microscopy proved colocalization of AIF with mitochondrial marker in neoplastic cells.The prognosis of patients with uveal melanoma can be more accurate with inclusion of immunohistochemical detection of AIF expression. Increased expression of the AIF protein appears as a new negative prognostic factor predicting the 5 year survival.

Development of a new method for the preparation of an acellular allodermis, quality control and cytotoxicity testing.

Demand for use of acellular allodermis is high but commercially appropriate products are not used routinely because of very high price and limited availability. These facts did motivate us to prepare acellular allodermis using a new, simple and less expensive method. We have developed a original method for preparation of acellular allogeneic dermis based on action of a proteolytic enzyme in combination with distilled water. Hypotonic environment in comparison with SDS or Triton ansure no toxicity of the final product. Trials for determination of optimal trypsin concentrations, temperature and time of action were performed. According to our results, the use of 2.5% trypsin/EDTA solution overnight at +4 °C was proving to be optimal. The histology confirmed absence of cells in the prepared dermis. No toxicity of final acellular dermis was confirmed by three independent tests (agar diffusion test contact cytotoxicity test and grow curve). The prepared acellular dermis seems to be suitable not only for direct clinical use, but it can be used as a scaffold for cell cultivation as well.

Prognostic value of programmed-death-1 receptor (PD-1) and its ligand 1 (PD-L1) in testicular germ cell tumors.

BACKGROUND: Testicular germ cell tumors (TGCTs) belong to the most chemosensitive solid tumors; however, a small proportion of patients fail to be cured with cisplatin-based chemotherapy. Inhibitors of PD-1/PD-L1 pathways represent a new class of promising drugs in anticancer therapy. The aim of this study was to evaluate expression and prognostic value of PD-1 and PD-L1 in TGCTs. PATIENTS AND METHODS: Surgical specimens from 140 patients with TGCTs (131 with primary testicular tumor and 9 with extragonadal GCTs) were included into the translational study. PD-1 and PD-L1 expression was detected in the tumor tissue by immunohistochemistry using monoclonal antibodies, scored by the multiplicative quickscore (QS) method, compared with their expression in normal testicular tissue and correlated with clinicopathological characteristics and clinical outcome. RESULTS: None of the GCTs exhibited PD-1 protein, although expression of PD-L1 was significantly higher in GCTs in comparison with normal testicular tissue (mean QS = 5.29 versus 0.32, P < 0.0001). Choriocarcinomas exhibit the highest level of PD-L1 with decreasing positivity in embryonal carcinoma, teratoma, yolk sac tumor and seminoma. PD-L1 expression was associated with poor prognostic features, including ≥3 metastatic sites, increased serum tumor markers and/or non-pulmonary visceral metastases. Patients with low PD-L1 expression had significantly better progression-free survival [hazard ratio (HR) = 0.40, 95% confidence interval (CI) 0.16-1.01, P = 0.008] and overall survival (HR = 0.43, 95% CI 0.15-1.23, P = 0.040) compared with patients with high PD-L1 expression. CONCLUSIONS: In this translational study, we showed, for the first time, the prognostic value of PD-L1 expression in TGCTs and our data imply that the PD-1/PD-L1 pathway could be a novel therapeutic target in TGCTs.

Fibrillin-1 (FBN-1) a new marker of germ cell neoplasia in situ.

BACKGROUND: Germ cell neoplasia in situ (GCNIS), is preinvasive stage of testicular germ cell tumours (TGCTs). Fibrillins, which are integral components of microfibrils are suggested to be involved in cancer pathogenesis and maintenance of embryonic stem cells pluripotency. The aim of this study was to examine fibrillin-1 (FBN-1) expression in TGCTs patients. METHODS: Surgical specimens from 203 patients with TGCTs were included into the translational study. FBN-1 expression was evaluated in the tumour tissue, in GCNIS and in adjacent non-neoplastic testicular tissue in all available cases. Tissue samples were processed by the tissue microarray method. FBN-1 was detected by immunohistochemistry using goat polyclonal antibody and the expression was evaluated by the multiplicative quickscore (QS). RESULTS: The highest FBN-1 positivity was detected in GCNIS (mean QS = 11.30), with overexpression of FBN-1 (QS >9) in the majority (77.1 %) of cases. Expression of FBN-1 in all subtypes of TGCTs was significantly lower in comparison to expression in GCNIS (all p <0.001). Seminoma had significantly higher expression compared to EC, ChC and TER (all p <0.05), but not to YST (p = 0.84). In non-neoplastic testicular tissue the FBN-1 positivity was very low (mean QS = 0.02). Sensitivity, specificity, positive and negative predictive value of FBN-1 expression for diagnosis of GCNIS were 97.1, 98.8, 98.6 and 97.7 %. CONCLUSIONS: FBN-1 is overexpressed in TGCTs and especially in GCNIS when compared to non-neoplastic testicular tissue in patients with germ cell tumors and could be involved in germ cell neoplasia in situ development.

Comparison of structural changes in skin and amnion tissue grafts for transplantation induced by gamma and electron beam irradiation for sterilization.

Sterilization is an important step in the preparation of biological material for transplantation. The aim of the study is to compare morphological changes in three types of biological tissues induced by different doses of gamma and electron beam radiation. Frozen biological tissues (porcine skin xenografts, human skin allografts and human amnion) were irradiated with different doses of gamma rays (12.5, 25, 35, 50 kGy) and electron beam (15, 25, 50 kGy). Not irradiated specimens served as controls. The tissue samples were then thawn and fixed in 10 % formalin, processed by routine paraffin technique and stained with hematoxylin and eosin, alcian blue at pH 2.5, orcein, periodic acid Schiff reaction, phosphotungstic acid hematoxylin, Sirius red and silver impregnation. The staining with hematoxylin and eosin showed vacuolar cytoplasmic changes of epidermal cells mainly in the samples of xenografts irradiated by the lowest doses of gamma and electron beam radiation. The staining with orcein revealed damage of fine elastic fibers in the xenograft dermis at the dose of 25 kGy of both radiation types. Disintegration of epithelial basement membrane, especially in the xenografts, was induced by the dose of 15 kGy of electron beam radiation. The silver impregnation disclosed nuclear chromatin condensation mainly in human amnion at the lowest doses of both radiation types and disintegration of the fine collagen fibers in the papillary dermis induced by the lowest dose of electron beam and by the higher doses of gamma radiation. Irradiation by both, gamma rays and the electron beam, causes similar changes on cells and extracellular matrix, with significant damage of the basement membrane and of the fine and elastic and collagen fibers in the papillary dermis, the last caused already by low dose electron beam radiation.

Dominant neurologic symptomatology in intravascular large B-cell lymphoma.

Intravascular large B-cell lymphoma (IVLBCL) is a rare variant of extranodal large B-cell lymphoma and it is characterized by selective intravascular proliferation of malignant cells. Typical features of the disease include aggressive behavior, rapid and frequently fatal course. Clinical picture is non-specific and heterogeneous, depending on the affected organ. It is not uncommon that this unique type of lymphoma is diagnosed post mortem. Herein, we report two cases of IVLBCL with neurologic symptomatology. In our clinical study patient 1 was an 80-year-old male with mixed paraparesis of lower extremities and difficulties with sphincter control. Patient 2 (56-year-old male) had vision malfunction, mental status changes and defect in phatic and motor functions. In both cases definite diagnosis was established by histological examination of necroptic material. We propose to include IVLBCL in differential diagnostic considerations in patients presenting with gradually impairing neurological status and spinal cord damage of unknown etiology (Fig. 2, Ref. 9).

Effects of γ-irradiation on Na,K-ATPase in cardiac sarcolemma.

Previous studies showed that adverse effect of ionizing radiation on the cardiovascular system is beside other factors mostly mediated by reactive oxygen and nitrogen species, which deplete antioxidant stores. One of the structures highly sensitive to radicals is the Na,K-ATPase the main system responsible for extrusion of superfluous Na(+) out of the cell which utilizes the energy derived from ATP. The aim of present study was the investigation of functional properties of cardiac Na,K-ATPase in 20-week-old male rats 6 weeks after γ-irradiation by a dose 25 Gy (IR). Irradiation induced decrease of systolic blood pressure from 133 in controls to 85 mmHg in IR group together with hypertrophy of right ventricle (RV) and hypotrophy of left ventricle (LV). When activating the cardiac Na,K-ATPase with substrate, its activity was lower in IR in the whole concentration range of ATP. Evaluation of kinetic parameters revealed a decrease of the maximum velocity (V max) by 40 % with no changes in the value of Michaelis-Menten constant (K m). During activation with Na(+), we observed a decrease of the enzyme activity in hearts from IR at all tested Na(+) concentrations. The value of V max decreased by 38 %, and the concentration of Na(+) that gives half maximal reaction velocity (K Na) increased by 62 %. This impairment in the affinity of the Na(+)-binding site together with decreased number of active Na,K-ATPase molecules, as indicated by lowered V max values, are probably responsible for the deteriorated efflux of the excessive Na(+) from the intracellular space in hearts of irradiated rats.

Structural changes of skin and amnion grafts for transplantation purposes following different doses of irradiation.

An important part of the preparation of biological material for transplantation is sterilization. The aim of our study was to assess the impact of ionizing radiation on three types of biological tissues and the impact of different doses on cells and extracellular matrix. Three types of frozen tissues (porcine skin xenografts, human skin allografts and human amnion) were divided into five groups, control and groups according to the dose of radiation to which these samples were exposed (12.5, 25, 35 and 50 kGy). The tissue samples were fixed by formalin, processed by routine paraffin technique and stained with hematoxylin and eosin, alcian blue at pH 2.5, orcein, periodic acid schiff reaction and silver impregnation. The staining with hematoxylin and eosin showed hydropic degeneration of the cells of epidermis in xenografts by the dose of 12.5 kGy, in human skin it was observed by the dose of 35 kGy. The staining for elastic fibers revealed damage of fine elastic fibers in the xenografts dermis by the dose of 12.5 kGy, in the allografts by 35 kGy. Another change was the disintegration of basement membrane of epithelium, especially in the human amnion at the dose of 50 kGy. The silver impregnation visualized nuclear chromatin condensation mainly in human amnion at the dose of 12.5 kGy. Our results have shown that the porcine xenografts and human amnion were more sensitive to irradiation than the human skin. In the next phase of the project we will focus at more detailed changes in the tissues using immunohistochemical techniques.

[Clinical and microbiological characteristics of severe infections caused by group A streptococci]. / Klinická a mikrobiologická charakteristika závazných infekcii sposobených streptokokmi skupiny A.

AIM OF THE STUDY: Analysis of data on the occurrence of severe infections caused by group A streptococci, emm typing of the isolated strains, and survey of resistance to the selected antibiotics. MATERIAL AND METHODS: In 2012 and 2013, 43 S. pyogenes strains were isolated from severe infections. The isolates were most often recovered from wounds and abscesses (36 patients), followed by blood culture (5 patients), sputum (1 patient), and autopsy samples (1 patient). Antimicrobial susceptibility to selected antibiotics ( penicillin, erythromycin, clindamycin, spiramycin, and tetracycline) was tested by the disk-diffusion method and the minimal inhibitory concentrations (MICs) were determined. RESULTS: In 2012 and 2013, an increase in severe streptococcal infections was observed, with 27 and 16 cases reported, respectively. Resistance to macrolides was detected in 18.5% and 12.5% of isolates, respectively, and resistance to tetracycline in 25.9% and 20% of isolates, respectively. The isolated S. pyogenes strains were most often assigned to emm type 1. Risk factors for streptococcal infection were analyzed, with injury being most often identified as a risk factor- in seven and two patients, respectively. The patients were most frequently treated by beta-lactam antibiotics (penicillin and ampicillin). In 2012, two cases were fatal. CONCLUSION: This study reports cases of invasive group A streptococcal (GAS) infection as seen in clinical practice. An increased occurrence of S. pyogenes was observed in the hospital, with the isolates exhibiting elevated resistance to erythromycin and tetracycline. It is necessary to monitor the trends of antimicrobial resistance and the distribution of emm types among group A streptococcal isolates. Cooperation of the laboratory and clinical professionals in the prevention and therapy of streptococcal infections, invasive in particular, is crucial for risk reduction.

Idiopatic lobular necrotizing paniculitis.

42-year old patient was presented to our clinic with a fever lasting for seven months and a ten month history of subcutaneous nodules on all extremities and trunk. Further examination revealed anaemia, lymphocytopenia and elevation of inflammatory parameters and liver enzymes. Authors comment their difficulties in differential diagnostic process. The bone marrow biopsy and reappraisal of subcutaneous lesions confirmed idiopathic lobular panniculitis, known as Weber-Christian disease. A combined immunosuppressive therapy was followed by improvement of clinical state as well as laboratory parameters (Tab. 2, Fig. 3, Ref. 11).

Therapy of melanocytic conjunctival tumors.

BACKGROUND: Clinical experience of our single center in dealing with pigmented epibulbar lesions - melanocytic conjunctival tumors is presented. Since 2008 we use the topical treatment with mitomycin C (MMC) as an alternative or adjunctive method for excision in the treatment of melanocytic neoplasia of the conjunctiva. METHODS: The retrospective case series of 85 patients with pigmented lesions of the conjunctiva - melanocytic conjunctival tumors, histopathologically examined in the period 2001-2010 is presented. Since 2008 we started to apply MMC in the treatment of primary acquired melanosis (PAM) and dysplastic nevi. We apply MMC topically directly after an excision as 2-times five minutes application. RESULTS: In 85 patients with pigmented lesions of the conjunctiva histopathological findings after excision of the lesion showed in 68 (80 %) cases melanocytic nevocelullar nevus, out of which 55 cases were combined and 13 cases were junctional nevi. In 60 (80 %) cases of melanocytic nevi atypia was found in 25 patients (42 %), nevus without atypia was present in 35 cases (58 %). PAM with atypia was found in 16 patients (classified since 2000). During the period of application of MMC we diagnosed only one patient with primary conjunctival melanoma. There was no presence of relapse of the pigmented lesion either after primary excision or after excision with MMC. CONCLUSION: Resection of more than one quadrant of bulbar conjunctiva in patients with pigmented lesions of the conjunctiva in cases of conjunctival nevus with atypia and PAM with atypia combined with topical MMC chemotherapy is an alternative therapy for residual pigmented lesions. There was no presence of relapse of pigmentation in area of excision with or without using MMC during the surgery in patients with PAM. The number of our patients is not sufficient yet to draw a conclusion (Fig. 6, Ref. 21).

Omphalocele with ectopic liver forming a mesodermal cyst.

BACKGROUND: Congenital anomalies of the abdominal wall are classified as anomalies with the abdominal wall defect (omphalocele, gastroschisis) and without the defect (umbilical hernia, persistent ductus omphaloentericus or urachus). Clinical presentations of these conditions are different, and so is the timing of surgical intervention and approach with or without the exploration of the peritoneal cavity. CASE: The presented case report refers to a rare finding of ectopic liver forming mesodermal cyst within the umbilical region. Full term neonate girl with 5 cm spheroid tumor in umbilicus was otherwise without problems. Ultrasonography (USG) of the lesion detected a tissue with good vascularization and a cystic cavity. There was no flow in the umbilical vessels and no evidence of intestinal loop in the sac. USG of the liver was normal. During surgery an additional narrow canaliculus was identified connecting the spheroid along with umbilical vessels to the liver. The whole spheroid together with the canaliculus was surgically removed without exploration of the abdominal cavity. Histological evaluation of the surgical specimen discovered liver tissue with a mesodermal cyst in the center. The sphere was connected to the liver by a bile duct. Six months after the operation the child is in a good clinical condition. CONCLUSION: In conclusion omphalocele may contain liver. Ectopic liver is an extremely rare condition. Surgical treatment in the presented case focused only on umbilicus without exploration of the abdominal cavity and appeared to be sufficient. Long-term postoperative follow up typical in pediatrics will be applied also in this patient (Fig. 3, Ref. 25).

[Acute coronary syndrome imitated by malignant melanoma or real acute coronary syndrome?]. / Malígnym melanómom imitovaný akútny koronárny syndróm alebo reálny akútny koronárny syndróm?

The article describes the case of 67 year  old woman, hospitalized at our department due to history of syncopes. At the time of admission the patient complained of back pain in the area of exophytic growing tumour. During the diagnostic process routine laboratory tests revealed severe normocytic hypochromic anemia, hypoproteinemia, elevation of inflammatory parameters (leukocytes, C reactive protein) and imaging methods (ultrasonography, computer  aided tomography) helped to formulate suspicion of disseminated cancerous disease (metastases in spleen, skeleton and lymph nodes). Patient was subsequently operated at the surgical ward, where she had removed the tumour on the back. After the surgery patients condition was complicated by chest pain accompanied by changes on electrocardiogram and dynamics in cardiospecific markers. We evaluated patients condition as developing acute coronary syndrome. The patient received conservative treatment of acute coronary syndrome, but despite the provided care she died. However, the autopsy revealed another immediate cause of death -  metastases of malignant melanoma of back.

Double Trisomy 16 and 22 Clinically Mimic Partial Hydatidiform Mole in a Case of Subsequent Pregnancy Loss.

A case of double trisomy 16 and 22 in the second pregnancy loss is presented. DNA analyses (short tandem repeats genotyping) of miscarriage specimen was indicated because of ultrasound suspicion of partial hydatidiform mole. After the partial hydatidiform mole exclusion, further DNA analyses focused on the most common aneuploidies causing pregnancy loss, detected double trisomy 16 and 22 in the product of conception. The couple was referred to clinical genetic consultation and normal parental karyotypes were proved. For further explanatory purposes, archived material from the first pregnancy loss was analyzed and trisomy of chromosome 18 was detected. By comparison of allelic profiles of the mother, father, and both losses, the maternal origin of all aneuploidies was proven what can be attributed to frequent meiosis errors, probably due to advanced maternal age (44 years at the first loss and 45 years at the second loss). In conclusion, aneuploidies can mimic partial hydatidiform mole. Genetic analysis is helpful on the one hand to rule out partial hydatidiform mole and on the other hand to identify aneuploidies and in this way to determine the cause of miscarriage.

Anogenital squamous cell carcinoma in neglected patient.

Skin squamous cell carcinomas (SCCs) are arguably the second most common carcinoma of the skin and are responsible for the majority of non-melanoma skin cancer deaths. Gynecologist treated a Caucasian 56-years old female patient for genital wart with podophyllotoxin cream. She did not achieve complete response and therefore she has interrupted the therapy and the collaboration with the gynecologist. At the time of evaluation the lesion had a size of man's palm in anogenital region and showed characteristic features of neoplasm. The regional lymph nodes have produced infiltrated painful bubo. PCR analysis for HPV proved negative. Histopathology revealed well-differentiated squamous cell keratinizing carcinoma from the tumor as well as from the regional lymph node packet. Staging computed tomography scans proved negative and pelvis scans disclosed regional lymphadenopathy underlying the tumor. Palliative radiation therapy (by linear accelerator) was administered for the oversized tumor to the total TD 50.0Gy. The patient died 6 months after diagnostic assessment from cardio-respiratory failure. Staging computed tomography before her death did not disclose distinct metastases in her inner organs. Well-differentiated squamous cell keratinizing carcinoma could be growing endophytically affecting the underlying adipose tissue and musculature, with spreading into the regional lymph nodes. The rate of metastases into inner organs seems to vary according to the aggressiveness and metastatic behavior of each SCC. The case report calls for attention to the importance of collaboration among various specialists assisting in the diagnosis and management of skin neoplasm (Fig. 5, Ref. 12). Full Text in PDF www.elis.sk.