Stanisław Zajaczek

Publications of Stanisław Zajaczek

• Prenatal diagnosis of rare fetal anomalies--a case report.

  Authors: Krzysztof Piotrowski, Maria Constantinou, Jacek Patalan, Piotr Waloszczyk, Zbigniew Celewicz, Bogdan Kałuzewski, Krzysztof Medrek, Stanisław Zajaczek

  Ginekologia polska. 07/2011; 82(7):541-5.

  Hereby we present a case of a pregnancy in which careful dysmorphology of the fetus in subsequent sonographic evaluation resulted in detection of a very rare anomaly. It allowed explanation of theHereby we present a case of a pregnancy in which careful dysmorphology of the fetus in subsequent sonographic evaluation resulted in detection of a very rare anomaly. It allowed explanation of the fetal phenotype, compared then with that of the newborn and estimation of genetic risk for the next pregnancies in this family.

• [The "heart-hand" syndrome in a 8-year-old-boy with short stature].

  Authors: Elzibieta Petriczko, Anita Horodnicka-Józwa, Piotr Prowans, Agnieszka Biczysko-Mokosa, Justyna Szmit-Domagalska, Grazyna Dawid, Mieczysław Walczak, Stanisław Zajaczek

  Wiadomości lekarskie (Warsaw, Poland : 1960). 01/2011; 64(1):15-21.

  "Heart-hand" syndrome is a broad category of diseases. The most common form is Holt-Oram syndrome (HOS) that occurs in approximately 1:100 000 live births. It is characterized by upper limb defects"Heart-hand" syndrome is a broad category of diseases. The most common form is Holt-Oram syndrome (HOS) that occurs in approximately 1:100 000 live births. It is characterized by upper limb defects (carpal bone defects, triphalangeal thumbs, hypoplasia or absence of the thumb and the radial ray) and cardiac septal defects (atrial septal defects or ventricular septal defects). There are three main types of "heart-hand" syndromes. "Heart-hand" syndrome type I--HOS is characterised by atrial septal defect and thumb anomaly, type II (Tabatznik syndrome) by short distal phalanx of the thumb, upper limb abnormalities and cardiac arrhythmias, type III by cardiac conduction diseases and shortening of the middle phalanges. The aim of this report is to present a new case of the "heart-hand" syndrome in the family. This diagnosis was established on the base of clinical examination, radiological findings, and echocardiography. Our patient demonstrates congenital bilateral absence of a radial bone and thumbs, dextrocardia and patent foramen ovale.

• The results of prenatal screening in the group of 2285 pregnant women from Western Pomeranian Region of Poland diagnosed between 2005-2006.

  Authors: Krzysztof Piotrowski, Wojciech Halec, Krzysztof Medrek, Jerzy Wegrzynowski, Zbigniew Celewicz, Stanisław Zajaczek

  Ginekologia polska. 05/2009; 80(4):263-7.

  In the following paper we have presented the results of non-invasive and invasive prenatal diagnostic tests performed on 2285 pregnant women from the Western-Pomeranian Region between 2005 and 2006.In the following paper we have presented the results of non-invasive and invasive prenatal diagnostic tests performed on 2285 pregnant women from the Western-Pomeranian Region between 2005 and 2006. MATERIAL AND METHODS: Retrospective analysis of screening tests on 2285 pregnant women. Medical history, including age, weight, familial data pedigrees up to third degree relatives, accompanying diseases, gestational complications in the family, type, dosage and period of any drugs intake, was obtained. Sonographic screening and evaluation of maternal serum PAPP-A and betaHCG levels. RESULTS: Screening tests identified 4.5% high-risk pregnancies in this group. 69% of the patients consented to invasive diagnosis. As a result, genetic anomalies were detected in 43.7% of cases. Significant differences in betaHCG levels correlated with oral gestagens intake and place of residence (coastal areas). CONCLUSION: Broad use of certified non-invasive methods of prenatal screening allow substantial reduction of invasive procedures with high levels of positive prediction. Medical drugs intake as well as place of inhabitation may influence on free betaHCG levels.

• A high proportion of founder BRCA1 mutations in Polish breast cancer families.

  Authors: Bohdan Górski, Anna Jakubowska, Tomasz Huzarski, Tomasz Byrski, Jacek Gronwald, Ewa Grzybowska, Andrzej Mackiewicz, Malgorzata Stawicka, Marek Bebenek, Dagmara Sorokin [......] Cezary Cybulski, Elzbieta Kowalska, Aleksandra Tołoczko-Grabarek, Stanisław Zajaczek, Janusz Menkiszak, Krzysztof Medrek, Bartłomiej Masojć, Marek Mierzejewski, Steven Alexander Narod, Jan Lubiński

  International journal of cancer. Journal international du cancer. 08/2004; 110(5):683-6.

  Three mutations in BRCA1 (5382insC, C61G and 4153delA) are common in Poland and account for the majority of mutations identified to date in Polish breast and breast-ovarian cancer families. It is notThree mutations in BRCA1 (5382insC, C61G and 4153delA) are common in Poland and account for the majority of mutations identified to date in Polish breast and breast-ovarian cancer families. It is not known, however, to what extent these 3 founder mutations account for all of the BRCA mutations distributed throughout the country. This question has important implications for health policy and the design of epidemiologic studies. To establish the relative contributions of founder and nonfounder BRCA mutations, we established the entire spectrum of BRCA1 and BRCA2 mutations in a large set of breast-ovarian cancer families with origins in all regions of Poland. We sequenced the entire coding regions of the BRCA1 and BRCA2 genes in 100 Polish families with 3 or more cases of breast cancer and in 100 families with cases of both breast and ovarian cancer. A mutation in BRCA1 or BRCA2 was detected in 66% of breast cancer families and in 63% of breast-ovarian cancer families. Of 129 mutations, 122 (94.6%) were in BRCA1 and 7 (5.4%) were in BRCA2. Of the 122 families with BRCA1 mutations, 119 (97.5%) had a recurrent mutation (i.e., one that was seen in at least 2 families). In particular, 111 families (91.0%) carried one of the 3 common founder mutations. The mutation spectrum was not different between families with and without ovarian cancer. These findings suggest that a rapid and inexpensive assay directed at identifying the 3 common founder mutations will have a sensitivity of 86% compared to a much more costly and labor-intensive full-sequence analysis of both genes. This rapid test will facilitate large-scale national epidemiologic and clinical studies of hereditary breast cancer, potentially including studies of chemoprevention.

• [Localization and clinical characteristics of the ocular metastases of solid extraocular tumours]

  Authors: Katarzyna Królewska, Olgierd Palacz, Stanisław Zajaczek

  Klinika oczna. 02/2004; 106(3):347-50.

  Localization and clinical characteristics of the ocular metastases of solid tumours are presented. Choroid is the most common localization site of these metastases, however they may involve eachLocalization and clinical characteristics of the ocular metastases of solid tumours are presented. Choroid is the most common localization site of these metastases, however they may involve each ocular structure. In the most cases they are diagnosed in patients with earlier recognized cancer, but in 12-40% of the patients ocular metastasis is a first sign of the neoplasm. Therapy is focused to save the eye function or last but not least to improve patient's status.

• [Ocular metastases of solid extraocular tumors. Frequency of ocular metastases and localization of the primary tumors]

  Authors: Katarzyna Królewska, Olgierd Palacz, Stanisław Zajaczek

  Klinika oczna. 02/2004; 106(1-2):102-6.

  The aim of this paper is, to characterize ocular metastases of solid extraocular tumors and analyze the frequency and localization of their primary sites, according to literature data of 1967-2002The aim of this paper is, to characterize ocular metastases of solid extraocular tumors and analyze the frequency and localization of their primary sites, according to literature data of 1967-2002 years. The most common source of this metastases are breast, lung and prostate cancers in adults and neuroblastoma in children. Practically used diagnostic ways of ocular metastases in many cases omit histopathology investigation and for this reason in some cases, particularly with coexistence of hereditary cancer predisposition, second primary tumors may be misdiagnosed, as the distant--time ocular metastases.

• Supernormal electro-oculograms in patients with neurofibromatosis type 1.

  Authors: Wojciech Lubiński, Stanisław Zajaczek, Zbigniew Sych, Krzysztof Penkala, Olgierd Palacz, Jan Lubiński

  Hereditary cancer in clinical practice. 01/2004; 2(4):193-6.

  To asses the retinal pigment epithelium (RPE) function measured by EOG testing in patients with neurofibromatosis type 1 (NF-1). Our preliminary EOG results suggested dysfunction of the RPE inTo asses the retinal pigment epithelium (RPE) function measured by EOG testing in patients with neurofibromatosis type 1 (NF-1). Our preliminary EOG results suggested dysfunction of the RPE in individuals with NF-1. In order to confirm our initial results we performed EOG examination on a larger group of NF-1 patients. Studies were performed on 36 patients with clinically diagnosed NF-1 and compared to normal healthy controls. Standard EOG recordings were performed in accordance with the International Society for Clinical Electrophysiology of Vision (ISCEV) standards. In NF-1 patients the Arden indexes of the EOG test were significantly higher primarily due to the lower values of dark troughs. Supernormal EOGs (exceeding the value of the mean + 2 SD from the control group) were present in 58% of NF-1 patients. Dysfunction of the RPE is a characteristic feature of individuals with NF-1.

• [Germinal cell tumors in young and adolescent girls]

  Authors: Izabella Rzepka-Górska, Anna Błogowska, Stanisław Zajaczek, Dorota Zielińska

  Ginekologia polska. 10/2003; 74(9):840-6.

  OBJECTIVE: Germ cell tumours are the most common ovarian tumours in childhood and adolescence. This diverse group of tumours derives from germ cells. DESIGN: The aim of this work is presentation ofOBJECTIVE: Germ cell tumours are the most common ovarian tumours in childhood and adolescence. This diverse group of tumours derives from germ cells. DESIGN: The aim of this work is presentation of germ cell tumours in the material from our clinic with characteristic clinical features, the scope of operation and effects of many years of observation. MATERIALS AND METHODS: We treated 109 girls with germ cell tumours of the ovary: 13 had malignant tumours: there were 7 patients with dysgerminomas, 2 with endodermal sinus tumour of the ovary, 3 with immature teratomas, 1 with carcinoma embryonale. Gonadoblastomas was diagnosed 4 patients and mature teratomas in 92 patients. RESULTS: 11 patient had gonadal dysgenesia with abnormal karyotype. These girls had no follicle apparatus in gonads and had elevated levels of gonadotropins. Gonadoblastoma is almost always found in patients with gonadal dysgenesis. Gonadoblastoma often produces estradiol or testosterone. There can be problems with diagnosis of the syndrome, because developmental features imitate the onset of normal puberty. Most patients with dysgerminoma have stage I of disease and surgery is sufficient. It must be suggested that patients of stage I who wish to preserve childbearing function may be treated with unilateral salpingoophorectomy and adjuvant chemotherapy. Monitoring of the treatment is connected with measurement of biochemical markers. Some of these markers are useful for monitoring of response to therapy. When levels of markers are low second look laparoscopic operation should be performed. Cytological smears and biopsy specimens from the remaining ovary, peritoneum and subdiaphragmatic area should be obtained laparoscopically. CONCLUSIONS: The sift ultrasonographic investigations can be helpful in the early diagnosis of germ cell tumours of the ovary in girls. Absence of follicle apparatus in the gonads requires determination of levels of gonadotropins and karyotype. Fertility sparing operative treatment is preferred when karyotype is normal.

• Electroretinographic changes in the inner retinal layers of the retained eyes of patients with sporadic unilateral retinoblastoma.

  Authors: Wojciech Lubiński, Stanisław Zajaczek, Zbigniew Sych, Krzysztof Penkala, Olgierd Palacz, Jan Lubiński

  Ophthalmic genetics. 06/2002; 23(2):99-107.

  PURPOSE: Examination of retinal function as measured by flash electroretinogram (ERG) including oscillatory potentials (OPs) and pattern electroretinogram (PERG) in a series of patients withPURPOSE: Examination of retinal function as measured by flash electroretinogram (ERG) including oscillatory potentials (OPs) and pattern electroretinogram (PERG) in a series of patients with unilateral sporadic retinoblastoma. PATIENTS: Studies were undertaken in the retained eye (without clinical evidence of retinoblastoma) of 13 patients with sporadic unilateral retinoblastoma and in 13 healthy controls. METHODS: Standard flash ERG including scotopic OPs and PERG recordings were performed in accordance with the International Society for Clinical Electrophysiology of Vision (ISCEV) standards. RESULTS: Statistically significant differences between the studied and the control groups were observed with flash ERG (OP1 amplitude increase, p < 0.003; photopic flicker amplitude increase, p < 0.05) and PERG (P50 latency increase, p < 0.008). CONCLUSIONS: Inner retinal layer dysfunction may be a characteristic feature of individuals with unilateral sporadic retinoblastoma.