TPH1 gene polymorphism rs211105 is associated with serotonin and tryptophan hydroxylase 1 concentrations in acute pancreatitis patients.

BACKGROUND: The role of serotonin and its metabolic pathway in proper functioning of the pancreas has not been thoroughly investigated yet in acute pancreatitis (AP) patients. Tryptophan hydroxylase (TPH) as the rate-limiting enzyme of serotonin synthesis has been considered for possible associations in various diseases. Single-nucleotide polymorphisms (SNPs) in TPH genes have been already described in associations with psychiatric and digestive system disorders. This study aimed to explore the association of a rs211105 (T/G) polymorphism in TPH1 gene with tryptophan hydroxylase 1 concentrations in blood serum in a population of acute pancreatitis patients, and to investigate this association with acute pancreatitis susceptibility. RESULTS: Our data showed an association between the presence of the T allele at the position rs211105 (OR = 2.47, 95 % CI 0.94-6.50, p = 0.06) under conditions of a decreased AP incidence. For TT and GT genotypes in the control group, the lowest concentration of TPH was associated with higher serotonin levels (TT: Rs = - 0.415, p = 0.0018; GT: Rs = - 0.457, p = 0.0066), while for the AP group the highest levels of TPH among the TT genotype were associated with lower levels of serotonin (TT: Rs = - 0.749, p < 0.0001, and in the GG genotype higher levels of TPH were associated with higher levels of serotonin (GG: Rs = - 0.738, p = 0.037). CONCLUSIONS: Here, a new insight in the potential role of a selected genetic factor in pancreatitis development was shown. Not only the metabolic pathway of serotonin, but also factors affecting serotonin synthesis may be interesting and important points in acute pancreatitis.

CYP27B1 Gene Polymorphism rs10877012 in Patients Diagnosed with Colorectal Cancer.

Colorectal cancer (CRC) is the third most commonly occurring cancer worldwide. Intestinal cells are CYP27B1 gene expression sites and, as a consequence, they are capable of converting pro-vitamin D into the active paracrine and autocrine forms. It was demonstrated that rs10877012 polymorphism in the CYP27B1 gene influenced the circulating vitamin D level. This provided a rationale for determining the role that this polymorphism plays in the risk of developing colon cancer. In this study, we investigated the association of rs10877012 (T/G) polymorphism in the CYP27B1 gene with CRC susceptibility. The study population (n = 325) included CRC patients (n = 106) and healthy controls (n = 219). DNA was extracted from peripheral leukocytes and analyzed for the CYP27B1 polymorphism using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. We found an association between the presence of the T allele at the polymorphic site (odds ratio (OR) = 2.94; 95% CI 1.77-4.86; p < 0.0001) and a decreased CRC incidence.

A rare case of squamous cell carcinoma arising from chronic sacrococcygeal pilonidal disease.

Pilonidal disease is a chronic disorder which is observed in boys and men between ages of 15 and 40 years old in Caucasian race. Malignant degeneration and carcinoma arising from chronic sacrococcygeal pilonidal disease are observed extremely rare and are described in the group of Marjolin cancer. Carcinoma can be seen on a place with long-term inflammation process as it was in the case described in the patient's article. First time squamous cell carcinoma arising from chronic sacrococcygeal pilonidal disease was described in 1900 by Wolff. The incidence of carcinoma arising in pilonidal disease is less than 0,1% and in the whole medical journals less than 100 patients are reported. This article presents the case of a patient with diagnosed squamous cell carcinoma arising from chronic sacrococcygeal pilonidal disease. In this article was presented the clinical features, pathogenesis, treatment options and prognosis of this rare disease. KEY WORDS: Pilonidal disease, Skin carcinoma, Squamous cell carcinoma, Surgery.

[Duodenal leiomyoma - a rare case report]. / Duodenalis leiomyoma ­ egy ritka betegség esettanulmánya.

Neoplasms of the small bowel are rare and comprise only 1-5% of all gastrointestinal neoplasms. The most frequent malignant tumors located in the small bowel are adenocarcinomas, lymphomas and neuroendocrine tumors. Rarely observed are gastrointestinal stromal tumors (GIST), leiomyosarcomas and leiomyomas. Leiomyomas are most frequently seen in the jejunum followed by the ileum and lastly the duodenum. In most cases, a definite diagnosis of these tumors is not possible prior to surgical treatment. The treatment of choice for these tumors is surgery. Surgical treatment of duodenal leiomyomas has been local tumor excision, segmental duodenal resection and pancreaticoduodenectomy. The prognosis for these well-differentiated smooth muscle tumors is favorable. The authors of this article presented a case of a 61-year-old white man who was admitted to the hospital because of diagnosed duodenal tumor. The patient was suffering for periodically appearing blunt pain in the upper abdomen and periodic vomiting for three months. He underwent surgical excision of a benign duodenum neoplasm and left the ward on the seventh day after surgery. After operation, the symptoms of disease were alleviated. The author performed a review of the literature concerning duodenal leiomyoma.

Angiosarcoma following radiation therapy for breast cancer Case report.

More and better accessibility to screening and increasing women's knowledge about the main symptomatic breast cancer signs result in detection of this neoplasm at an early stage, allowing a conservative surgical treatment. Breast conserving therapy (BCT) due to breast carcinoma involves the use of adjuvant radiotherapy which carries a risk the secondary radiation-induced malignancy. Angiosarcoma of the breast is an extremely rare radiation-induced malignant tumor following breast conserving therapy (BCT), first described by Schmidt in 1887. In this article the authors presented the case of a 56-year-old woman who was admitted to the hospital because of diagnosed angiosarcoma of the right breast after breast conserving therapy (BCT) with the Sentinel Node Biopsy (SNB) and adjuvant radiotherapy of her breast carcinoma 5 years earlier. The patient had a simple mastectomy performed and on the second day after surgery was discharged home. KEY WORDS: Angiosarcoma, Breast cancer, Radiation therapy, Surgery, Treatment.

Giant femoral lipoma causing venous obstructing syndrome Case report.

Lipoma is the most common benign neoplasm in the human body which develops from the adipose tissue. The tumors arise in subcutaneous tissues rather than deeper tissues where rare may cause compressive if some vein. The Authors report the case of femoral venous obstrucrion syndrome due to a giant femoral lipoma.

µ-Opioid receptor gene (OPRM1) polymorphism in patients with breast cancer.

Structure-dependent µ-opioid receptor (MOR) activity is an important element in cancer opioid analgesic effectiveness. It is widely accepted that guanine (G) substitution for adenine (A) at OPRM1 gene sequence position 118 changes receptor glycosylation pattern. This is associated with decreased binding ability in both exogenous and endogenous opioids, resulting in increased human pain resistance. The endogenous opioid system's function in body homeostasis maintenance is considered mainly regulatory, so its participation in breast tumor formation and progression is identified herein. We examine the association of the most frequent MOR (A118G) gene polymorphism on breast cancer risk in a Northeastern Polish population by PCR-RFLP comparison of A and G allele frequency at OPRM1 gene A118G polymorphic site in breast cancer-diagnosed patients with healthy control group frequencies. Our results highlight a strong association between G allele presence at µ-opioid receptor A118G and increased breast cancer incidence (OR = 3.3, 95 % CI 2.2-5.0, p < 0.0001) and female gender (OR = 2.0, 95 % CI 1.4-2.9, p = 0.0004). Consequently, OPRM1 G allele presence at that site is a highly significant risk factor in breast cancer development.

Quality of life in a 20-year follow-up study of people suffering from schizophrenia.

AIMS: 1. To assess the changes in quality of life indicators in schizophrenia sufferers at three measurement points: 7, 12 and 20 years after the first hospitalization. 2. To assess changes in the level of functioning and psychopathological state. 3. To assess the relationships between quality of life, the level of functioning and the severity of symptoms. METHOD: A sample group of fifty-two people diagnosed with schizophrenia was investigated using the Lehman's QOLQ, the GAF scale and BPRS. RESULTS: A deterioration was noted in the subjective and objective areas of family life and health, subjectively assessed social relationships and objectively assessed finances. The better functioning sub-group returned better scores for the following objective quality of life indicators: free time, family life, health, social relationships and financial situation. The sub-group in remission obtained better results for general, subjective quality of life and for subjectively assessed health, as well as better scores for objectively assessed free time, social relationships, financial situation and health. An improvement in general, subjective quality of life was seen in the sub-group whose symptoms had grown more severe. CONCLUSIONS: The decline in subjective and objective quality of life in the areas of health and family life, in the subjective evaluation of social relationships and in the objective assessment of financial situation was associated with a deterioration in functioning and an absence of symptom remission. The improvement in general, subjective quality of life in the sub-group with severe symptoms may be evidence of the formation of adaptive mechanisms.

The study of t-PA, u-PA and PAI-1 genes polymorphisms in patients with abdominal aortic aneurysm.

The most important feature of abdominal aortic aneurysm (AAA) pathogenesis is an enzymatic degradation of elastic lamellae and extracellular matrix proteins particularly with participation of matrix metalloproteinases. Plasmin, which is responsible for the dissolution of fibrin in blood vessels, plays also a key role in the cascade for activation of the metalloproteinases. The purpose of this study was to evaluate the influence of selected polymorphisms in genes coding for tissue plasminogen activator (-7351 C/T polymorphism), urokinase-type plasminogen activator (1788 C/T polymorphism) and plasminogen activator inhibitor 1 (-675 4G/5G and -844 G/A polymorphism) on the susceptibility to AAA. We performed a case-control study of 153 polish patients hospitalized due to AAA and compared them with matched healthy control subjects. The polymorphisms were ascertained through genotyping by polymerase chain reaction and restriction digestion of amplified fragments or through high-resolution melting analysis. In this study we have found lower frequency of wild-type GG genotype of the -844G/A PAI-1 polymorphism in cases than in controls, what may suggest the protective effect of this genotype for the risk of AAA development. None of the remaining polymorphisms tested were associated with AAA occurrence.

[The effect of two predictors' interaction on short- and long-term treatment outcomes of schizophrenia]. / Wplyw interakcji dwóch predyktorów na wczesne i odlegle wyniki leczenia schizofrenii.

OBJECTIVES: To monitor the effect of interaction of duration of untreated psychosis (DUP) and expressed emotion (EE) on treatment outcomes in schizophrenia. METHODS: 56 individuals diagnosed with schizophrenia were assessed at 4 time points. The number of relapses, the number and duration of rehospitalizations and the severity of symptoms were assessed at index hospitalization and at 3, 7 and 12-year follow-ups. RESULTS: No correlation was found between DUP and EE measured at index hospitalization. Over the 12-year period the number of rehospitalizations for individuals with short DUP and low EE did not increase, as opposed to those with short DUP and with high EE. In the group with long DUP, the number of rehospitalizations increased irrespectively of EE level. The positive syndrome in the group with short DUP and high EE was less severe than in individuals with long DUP and high EE. Analogous differences appeared in the group with low EE. CONCLUSIONS: 1) No correlation was found between DUP and EE at index hospitalization. 2) Number of rehospitalizations and intensity of positive symptoms proved to be associated over time with the interaction of DUP and EE. 3) Long-time observation and multiple assessments allow to obtain more reliable results.

Association analysis of genetic polymorphisms of factor V, factor VII and fibrinogen ß chain genes with human abdominal aortic aneurysm.

Increased activity of the coagulation system is associated with the increased risk of many arterial thrombotic diseases and atherosclerosis. The purpose of this study was to evaluate the influence of selected polymorphisms in genes coding for coagulation factor V (1691 G/A, the so-called Leiden mutation), factor VII (-323 0/10 bp insertion/deletion) and fibrinogen ß chain (-455 G/A) on the risk of abdominal aortic aneurysm, a particular form of atherothrombosis. We conducted a case-control study of 153 Polish patients hospitalized due to abdominal aortic aneurysm (AAA) and compared the results to those obtained from matched healthy control subjects. The polymorphisms were ascertained through genotyping by polymerase chain reaction and restriction digestion of amplified fragments. The study revealed that individuals carrying heterozygous genotype GA for the fibrinogen ß chain -455 G/A mutation had at least a 2-fold greater likelihood of AAA development compared to control subjects (OR=3.01; 95% CI 1.83-4.96). The cases possessing homozygous mutant genotype (AA) had no significant risk of developing AAA compared to the control subjects (OR=1.12; 95% CI 0.33-2.44; p=0.83). Concerning factor V 1691 G/A and factor VII -323 0/10 bp mutations, we did not find any statistically significant correlation between them and AAA occurrence. In conclusion, we suggest that the -455G/A polymorphism of the fibrinogen ß chain gene is a potential genetic marker to identify the risk of AAA.

Surgical excision of extensive anal condylomata is a safe operation without risk of anal stenosis.

INTRODUCTION: Anal condylomata acuminata was a well-known disease in ancient times but in recent years there has been a rapidly increasing number of people who suffer from this disease. The main cause of this disease is infection of human papilloma virus (HPV) which occurs through sexual contact. Currently there are three different ways to treat anal condylomata. Small changes of anal condylomata can be treated with local therapeutic agents, but the best results of treatment of extensive changes are obtained by surgical techniques. MATERIAL/METHODS: The study group consisted of 30 patients with diagnosed extensive anal condylomata who underwent surgery in Mikolaj Pirogow High Specialized Hospital in Lodz. The survey was conducted from 2007 to 2011. Patients had been directed to the surgical ward by general surgeons and practitioners, proctologists and urologists. The diagnosis was made after proctological assessment in the knee-chest position. RESULTS: All patients underwent surgery and had complete macroscopic electroexcision of anal condylomata. In the research group there was no mortality. Postoperative complications occurred in 4 (13.3%) patients--postoperative bleeding. Strong pain was present in 14 (46.7%) patients but only in the postoperative period. During postoperative follow-up there was no observed infection in the anal region or recurrence of disease. In the operated group there were no observed cosmetic deformations of the anus and/or the anal canal, narrow anal canal or functional fecal incontinence symptoms. CONCLUSIONS: Surgical treatment of anal condylomata is an effective and safe method for the patient. In our research there were no serious postoperative complications or recurrence of the disease during the follow-up period.

Etiology of thrombosed external hemorrhoids.

INTRODUCTION: External hemorrhoids are located outside of the dentate line and covered by anoderm. Thrombosed external hemorrhoids are one of the frequent acute anorectal diseases which are treated successfully in the proctology outpatient room. The etiology of this disease is still unknown. Knowledge of the etiology of thrombosed external hemorrhoids could prevent recurrence of this disease and help prepare good prophylaxis. MATERIAL/METHODS: A group of 50 patients with a diagnosis of thrombosed external hemorrhoids and treated in the Mikolaj Pirogow Regional Specialist Hospital in Lodz was interviewed by means of the author's own questionnaire concerning demography and published hypothesis. The necessary statistics were conducted by means of STATISTICA 7.1 and EXCEL 2008 programs. RESULTS: The analysis of the survey results shows a significant relationship of thrombosed external hemorrhoids and presence of internal hemorrhoids, practice of anoreceptive sex and consumption of more alcohol products than usual. There was no statistical relationship between lifting heavy objects, eating spicy food, having hard stools or straining at toilet during motions and thrombosed external hemorrhoids. CONCLUSIONS: This study confirmed three hypotheses on the causes of thrombosed external hemorrhoids which were presented in medical journals available in the MEDLINE database. The author of this article believes that it is necessary to conduct a multi-center study, which would explain the exact etiology of this disease. Knowledge about the etiology of thrombosed external disease would help develop effective prevention and treatment.

The patients knowledge about the role of calcium in the primary prevention of colorectal cancer.

AIM OF THE STUDY: The objective of this research was to become aquainted with patients' knowledge of the calcium role in the primary prevention of colorectal cancer. MATERIAL AND METHODS: A group of 400 patients treated in Nikolay Pirogov Provincial Specialist Hospital in Lódz was interviewed by means of the author's own survey in which specific tools were used to become aquainted with patients' knowledge of the calcium role in the primary prevention of colorectal cancer. The necessary statistics were conducted by means of STATISTICA 7.1 and EXCEL 2008 programmes. RESULTS: The analysis of the results shows that 363 (90.7%) of respondents did not know about the protective role of calcium in the digestive tract and reduce the risk of colorectal cancer. The study shows that 396 (99.0%) of respondents were not informed by doctors about the protective effect of calcium in the digestive tract. In this survey 357 (89.25%) of respondents did not know what is the recommended daily intake of calcium in the diet. CONCLUSIONS: The results of the study shows that patients do not know about the role of calcium in primary prevention of colorectal cancer and were not informed by their doctors about such action of calcium. Patients were not aware of the need to consume the Recommended Dietary Allowance of calcium in the diet, which shows little knowledge of the subjects on the diet. It seems necessary to change the eating habits of patients, while the introduction of nutrition education from an early age in the society. Such actions may prevent in the future many civilization diseases.

TRAIL protein expression in breast cancer cells correlates with nuclear grade.

INTRODUCTION: TRAIL protein may serve as an escape mechanism for cancer cells from the immune response. The aim of the study was to assess whether the presence of TRAIL protein correlates with unfavourable prognostic factors in breast carcinoma. MATERIAL AND METHODS: The study group was composed of breast cancer patients treated surgically in the Department of Surgical Oncology, Medical University of Lodz, Poland, from January to December 2003. Inclusion criteria for the study were fulfilled by 117 women. The immunohistochemical study of TRAIL protein expression was performed in 118 breast carcinomas diagnosed in the study group. TRAIL protein expression was correlated with other variables: tumour size, lymph node status, grade, histological type of carcinoma, oestrogen and progesterone receptor status, HER2 expression, presence of lymphovascular invasion and age of the patient. RESULTS: Expression of TRAIL protein was present in 73% of breast carcinomas. The percentage of TRAIL-expressing breast carcinoma cells correlated with the nuclear grade (τ = 0.26, p < 0.05; Tau Kendall test). The intensity of TRAIL expression (intensity of staining) in breast carcinoma cells correlated with the nuclear grade (τ = 0.15, p < 0.05; Tau Kendall test). TRAIL expression in breast carcinoma did not correlate with other studied variables. CONCLUSIONS: Our analysis revealed that expression of TRAIL protein in breast carcinoma cells correlates with nuclear grade of carcinoma.

Ex vivo search for sentinel node in postmastectomy specimens: should we use a transverse incision for mastectomy?

BACKGROUND: According to the concept of sentinel node (SN), the lymphatic pathway leading to SN should be regarded as the main and the most important lymphatic route from primary tumor to regional lymph nodes. We performed ex vivo blue-dye SN mapping in postmastectomy specimens to assess whether the main lymphatic tract leading to SN is completely removed during mastectomy. We assumed that ex vivo identification of SN may be possible only if the entire lymphatic tract leading to sentinel node is removed from within the postmastectomy specimen. METHODS: Blue dye (1 mL) was injected intracutaenously, periareolary into each of 28 postmastectomy specimens. In 13 cases mastectomy was performed with the use of transverse skin incision; in 15 cases oblique incision was used. RESULTS: The use of transverse skin incision during modified radical mastectomy allowed identification of the sentinel node and removal of the entire lymphatic pathway leading to sentinel node only in 4 of 15 cases (31%). Conversely, the use of oblique skin incision during modified radical mastectomy allowed identification of the sentinel node and removal of the entire lymphatic pathway leading to sentinel node in 12 of 15 cases (80%). CONCLUSIONS: Our experiment revealed that the use of transverse skin incision during modified radical mastectomy may not be the best choice for breast cancer patients. In our opinion, this observation may be especially important for patients not irradiated postoperatively.

The first description of sentinel node biopsy in a patient with amelanotic melanoma of the glans penis.

We present the first description of sentinel node biopsy in a patient with amelanotic melanoma of the glans penis. The patient underwent partial amputation of the penis due to tumor of the glans. Pathologic examination of the postoperative specimen revealed the presence of a very rare malignancy--amelanotic melanoma. Sentinel node biopsy, with the use of the combined radiotracer/blue dye technique, was performed. Preoperative lymphoscintigraphy was performed the day before surgery. During surgery, blue dye mapping and intraoperative detection of gamma radiation were used. Two sentinel nodes were identified in the left inguinal region and one sentinel node in the right inguinal region. All sentinel nodes were an intense violet color; in each case, the level of radiation in the sentinel node was almost 20 times higher than the level of radiation in the node bed. Routine hematoxylin and eosin staining and immunohistochemistry (HMB-45) revealed the presence of micrometastasis in one of the sentinel nodes harvested from the left inguinal region. Consequently, left inguinal, iliac and obturatory lymphadenectomies were performed. The final pathologic examination revealed the presence of one metastasis (diameter, 2 mm) in one of the resected non-sentinel nodes. No relapse has been observed during 18 months of follow-up.

Results of extracapsular dissection of pleomorphic adenoma of parotid gland.

PURPOSE: Current opinion that extracapsular dissection is in fact a euphemism for enucleation prompted us to retrospectively identify all patients in whom the extracapsular dissection technique was used and to critically assess the value of this technique. PATIENTS AND METHODS: The study includes all patients who underwent extracapsular dissection of parotid pleomorphic adenoma from 1979 to 2002 in our department (Department of Surgical Oncology, Medical University of Lodz, Poland). Ninety-eight cases were evaluated. Mean tumor diameter was 3.6 cm (range, 1.5 to 10 cm; median, 3 cm). RESULTS: In 8 cases (8/98; 8.2%) local recurrence was observed. For the entire group, the probability of living 10 years without the recurrence of the disease was 0.58. The lowest probability of local recurrence was found in patients with tumors larger than 4 to 6 cm in diameter. In these cases, the extensiveness of resection was similar to superficial parotidectomy, which could explain the result. In 13 cases (13/98; 13.3%) capsular exposure was found and consequently microscopic disease was present at the excision margins. In 7 cases (7/98; 7.1%) capsular rupture took place during surgery. The persistent paresis of facial nerve was observed in 8 cases (8/98; 8.2%). CONCLUSION: Extracapsular dissection of pleomorphic adenoma is a very demanding technique. Inevitable eventual clinical errors (eg, incomplete resection) lead to unacceptably high incidences of recurrences and complications. We do not advise this technique for the treatment of pleomorphic adenoma.