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2.
J Clin Med ; 11(19)2022 Sep 21.
Article in English | MEDLINE | ID: mdl-36233401

ABSTRACT

INTRODUCTION: The genetic basis of neuroendocrine tumors (NETs), whose incidence is continuously increasing, is still not fully defined. The majority of NETs are sporadic, and only a small percentage occur as part of hereditary genetic syndromes. However, the associations of multiple genetic variants have been found as clinically relevant in several neoplasms. The aim of this study was to evaluate whether selected, literature-based genetic variants may have a potential role in NET susceptibility and clinical outcome in Polish patients. MATERIALS/METHODS: A total of 185 patients recruited from one clinical center were enrolled. In the first part of the study, the molecular analysis including four single-nucleotide variants (rs8005354 (DAD1, NM_001344 intronic T/C substitution), rs2069762 (T/G substitution in the promoter region of the IL2 NM_000586), rs3731198 (CDKN2A, NM_000077 intronic A/G substitution), and rs1800872 (C/A substitution in the promoter region of the IL10 NM_000572)) was performed in 107 participants (49 patients with NETs with different primary site NETs and a control group of 58 healthy adult volunteers). In the second stage, the same single-nucleotide polymorphisms (SNPs) were assessed in 127 patients with NET and analyzed in terms of clinical data (primary site, serum CgA concentration, and metastatic disease). RESULTS: The analysis of homozygotes revealed a statistically significant higher prevalence of TT homozygotes of variant rs3731198 in the control group (p = 0.0209). In NET patients, there was a statistically significant higher prevalence of GG homozygotes of variant rs1800872 (p = 0.003). There was a statistically significant correlation between the rs3731198 variant and lymph node metastases (p = 0.0038 with Bonferroni correction). CONCLUSIONS: Our study indicates that GG homozygotes of variant rs1800872 are more often observed in NET patients, while TT homozygotes of variant rs3731198 are less frequent in this group. The rs3731198 variant may be related to an increased risk of lymph node metastasis. Further, larger multicenter studies are warranted to evaluate the potential genetic factors of sporadic NETs.

4.
PLoS One ; 15(11): e0242679, 2020.
Article in English | MEDLINE | ID: mdl-33237923

ABSTRACT

PURPOSE: Ectopic Cushing Syndrome (EAS) is a rare condition responsible for about 5-20% of all Cushing syndrome cases. It increases the mortality of affected patients thus finding and removal of the ACTH-producing source allows for curing or reduction of symptoms and serum cortisol levels. The aim of this study is to present a 20-year experience in the diagnosis and clinical course of patients with EAS in a single Clinical Centre in Southern Poland as well as a comparison of clinical course and outcomes depending on the source of ectopic ACTH production-especially neuroendocrine tumors with other neoplasms. METHODS: Twenty-four patients were involved in the clinical study with EAS diagnosed at the Department of Endocrinology between years 2000 and 2018. The diagnosis of EAS was based on the clinical presentation, hypercortisolemia with high ACTH levels, high dose dexamethasone suppression test and/or corticotropin-releasing hormone tests. To find the source of ACTH various imaging studies were performed. RESULTS: Half of the patients were diagnosed with neuroendocrine tumors, whereby muscle weakness was the leading symptom. Typical cushingoid appearance was seen in merely a few patients, and weight loss was more common than weight gain. Patients with neuroendocrine tumors had significantly higher midnight cortisol levels than the rest of the group. Among patients with infections, we observed a significantly higher concentrations of cortisol 2400 levels in gastroenteropancreatic neuroendocrine tumors. Chromogranin A correlated significantly with potassium in patients with neuroendocrine tumors and there was a significant correlation between ACTH level and severity of hypokalemia. CONCLUSION: EAS is not common, but if it occurs it increases the mortality of patients; therefore, it should be taken into consideration in the case of coexistence of severe hypokalemia with hypertension and muscle weakness, especially when weight loss occurs. Because the diagnosis of gastroenteropancreatic neuroendocrine tumor worsens the prognosis-special attention should be paid to these patients.


Subject(s)
ACTH Syndrome, Ectopic , ACTH Syndrome, Ectopic/blood , ACTH Syndrome, Ectopic/diagnosis , ACTH Syndrome, Ectopic/physiopathology , Adolescent , Adrenocorticotropic Hormone/blood , Adult , Aged , Cushing Syndrome/blood , Cushing Syndrome/diagnosis , Cushing Syndrome/physiopathology , Female , Humans , Hydrocortisone/blood , Hypertension/blood , Hypertension/diagnosis , Hypertension/physiopathology , Hypokalemia/blood , Hypokalemia/diagnosis , Hypokalemia/physiopathology , Male , Middle Aged , Muscle Weakness/blood , Muscle Weakness/diagnosis , Muscle Weakness/physiopathology , Poland , Retrospective Studies
5.
Public Health Nutr ; 23(14): 2467-2477, 2020 10.
Article in English | MEDLINE | ID: mdl-32476639

ABSTRACT

OBJECTIVE: The monitoring of the populations' iodine status is an essential part of successful programmes of iodine deficiency elimination. The current study aimed at the evaluation of current iodine nutrition in school children, pregnant and lactating women as a marker of the effectiveness and sustainability of mandatory iodine prophylaxis in Poland. DESIGN: The following iodine nutrition indicators were used: urinary iodine concentration (UIC) (all participants) and serum thyroglobulin (pregnant and lactating women). SETTING: The study was conducted in 2017 within the National Health Programme in five regions of Poland. PARTICIPANTS: The research included 300 pregnant women, 100 lactating women and 1000 school children (aged 6-12 years). RESULTS: In pregnant women, median UIC was 111·6 µg/l; there was no significant difference in median UIC according to the region of residence. In 8 % of pregnant women, thyroglobulin level was >40 ng/ml (median thyroglobulin 13·3 ng/ml). In lactating women, median UIC was 68·0 µg/l. A significant inter-regional difference was noted (P = 0·0143). In 18 % of breastfeeding women, thyroglobulin level was >40 ng/ml (median thyroglobulin 18·5 ng/ml). According to the WHO criteria, the investigated sample of pregnant and lactating women was iodine-deficient. Median UIC in school children was 119·8 µg/l (with significant inter-regional variation; P = 0·0000), which is consistent with iodine sufficiency. Ninety-four children (9·4 %) had UIC < 50 µg/l. CONCLUSIONS: Mandatory iodisation of household salt in Poland has led to a sustainable optimisation of iodine status in the general population. However, it has failed to assure adequate iodine nutrition during pregnancy and lactation.


Subject(s)
Iodine , Nutrition Disorders/prevention & control , Nutritional Status , Child , Female , Humans , Iodine/analysis , Iodine/deficiency , Lactation , Poland , Pregnancy , Sodium Chloride, Dietary
7.
Endokrynol Pol ; 69(3): 306-312, 2018.
Article in English | MEDLINE | ID: mdl-29319131

ABSTRACT

CONTEXT: Aggressive pituitary tumours causing Cushing's Disease are very rare, difficult to treat, and usually resistant to conventional therapy. There is growing evidence for the use of temozolomide (TZM), an alkylating chemotherapeutic agent, as first line chemotherapy in tumours resistant to repeated neurosurgery, radiotherapy and adrenalectomy. OBJECTIVE: To present the response to TMZ in a rare case of an aggressive pituitary tumour in the course of Cushing's Disease and to review the literature referring to similar cases. PATIENT: In this report, we present the case of a 61 year old male patient who was diagnosed with Cushing's Disease in the course of a pituitary invasive macroadenoma in 2011. The patient underwent 4 transphenoidal non-radical neurosurgeries (2012,2013) with rapid tumour progression, repeated non-radical bilateral adrenalectomy (2012, 2013) and stereotactic radiotherapy, and gamma knife surgery (2013, 2015). Histopathological examination revealed macroadenoma with high cell polymorphism and the presence of Crooke's cells, Ki- < 2%. Since 2015 the patient has been treated with 6 cycles of TMZ (320 mg per day for 5 consecutive days, 28-day cycle) with clinical and biochemical improvement and stabilized tumour size and no side effects. TMZ was continued for up to 9 cycles with a stable serum level of cortisol and ACTH being observed. However, clinical symptoms like headaches, visual field impairment, and finally hearing loss started to progress from the eighth cycle. After the ninth cycle of TMZ, there was a sudden increase in the size of the tumour, impairment of the cortisol and ACTH level, marked deterioration of the clinical status with the recurrence of severe headaches, narrowing of the visual field and hearing loss. At the beginning of 2016, a sudden clinical status and sight deterioration, strong headaches, drop of the right eyelid with widening of the pupil were observed. The patient died in February 2016. LESSONS: The case of our patient suggests that the response to the TMZ treatment monotherapy in aggressive pituitary tumour causing Cushing's Disease could be partial and restricted to 7-8 cycles followed by rapid progression of the tumor mass. Therefore, further research should be carried out with regard to new methods to extend the responsiveness and duration of TMZ treatment and to investigate predictors of responsiveness. < p > < /p >.


Subject(s)
ACTH-Secreting Pituitary Adenoma/drug therapy , Adenoma/drug therapy , Dacarbazine/analogs & derivatives , Pituitary ACTH Hypersecretion/etiology , ACTH-Secreting Pituitary Adenoma/complications , ACTH-Secreting Pituitary Adenoma/surgery , Adenoma/complications , Adenoma/surgery , Antineoplastic Agents, Alkylating/therapeutic use , Dacarbazine/therapeutic use , Fatal Outcome , Humans , Male , Middle Aged , Temozolomide
8.
Medicine (Baltimore) ; 96(44): e8406, 2017 Nov.
Article in English | MEDLINE | ID: mdl-29095270

ABSTRACT

RATIONALE: Traumatic thoracic injuries in adolescents are rare but could be connected with traumatic brain injuries (TBI) and development of chronic hypopituitarism. Early recognition of these endocrine problems is a significant challenge to clinicians. We present difficulties in diagnosis of hypothalamic-pituitary insufficiency following traumatic thoracic injury in adolescence. We also review the literature of similar cases. PATIENT CONCERNS: We present a case of a 24-years-old male. In 2007, at the age of 15 he underwent a severe traffic accident followed by thoracic injury with concussion, hemothorax and dissection of the aorta requiring aortic stent-graft implantation. DIAGNOSES: During the post-traumatic period, transient polydipsia and polyuria symptoms were observed. The patient had no medical history of any serious disease before the accident, his growth and pubertal development was normal. After the accident the patient did not undergo any routine medical check-ups. In 2013 gonadal axis deficiency was diagnosed during investigation of libido problems. Following the diagnosis testosterone replacement therapy was initiated. INTERVENTIONS: Further endocrinological investigation was carried out in 2016. The patient's main complaints were decreased mood and poor physical fitness. BMI was 27.34 kg/m, with a tendency to abdominal fat distribution. The patient's height is 160 cm, while Mid Parental Height (MPH) is 173.5 cm. Decreased bone density was found in DEXA examination. Serum growth hormone level (GH) was normal while insulin-like growth factor-1 (IGF-1) level was below normal. Insulin tolerance test (ITT) and low levels of IGF-1 confirmed somatotropic axis deficiency. Nuclear magnetic resonance (NMR) of the hypothalamo-pituitary region showed no abnormalities. PROP 1 and other common genetic mutations associated with GH deficits were excluded. Testosterone treatment was continued. The patient increased physical activity and implemented diet. OUTCOMES: The patient has lost weight, improved physical activity performance and is feeling better. The procedure to start GH supplementation is now in process. LESSONS: Based on our case and available literature we suggest that adolescent patients after traumatic brain injuries may require precise investigation and strict monitoring due to the possibility of unrecognized hypopituitarism.


Subject(s)
Accidents, Traffic , Androgens/therapeutic use , Hormone Replacement Therapy/methods , Hypopituitarism/etiology , Testosterone/therapeutic use , Thoracic Injuries/complications , Adolescent , Humans , Hypopituitarism/drug therapy , Male , Young Adult
9.
Eur Thyroid J ; 6(2): 82-88, 2017 Apr.
Article in English | MEDLINE | ID: mdl-28589089

ABSTRACT

OBJECTIVES: The diagnosis and treatment of thyroid diseases in pregnant women remains a challenge. Various medical associations recommend establishing the reference intervals for thyroid hormones by a local laboratory. Considering differences within geophysical, socioeconomic conditions, and iodine prophylaxis in various populations, it is advisable to assess reference intervals for thyroid hormones specific to a region of residence. The objective was to assess trimester-specific reference intervals for TSH, fT3, and fT4 for pregnant women in the Polish population. METHODS AND RESULTS: We conducted a prospective study in 4 centers representing different regions of Poland (Krakow, Warsaw, Poznan, and Bialystok). Our study included consecutive, healthy pregnant women (172 patients), with an age range of 27-47 years. All women had a negative history for thyroid diseases, normal thyroid peroxidase antibody levels, and proper iodine prophylaxis. All newborns had TSH levels in the appropriate reference range. Serum TSH, fT3, fT4, and thyroid-peroxidase antibodies were measured in each trimester. The reference intervals were calculated using the percentile method, as recommended by the International Federation of Clinical Chemistry. The reference values calculated were 0.009-3.177, 0.05-3.442, and 0.11-3.53 mIU/L for TSH; 3.63-6.55, 3.29-5.45, and 3.1-5.37 pmol/L for fT3; and 11.99-21.89, 10.46-16.67, and 8.96-17.23 pmol/L for fT4 in consecutive trimesters of pregnancy. Reference intervals for pregnant women when compared to the general population showed a lower concentration of TSH in every trimester of pregnancy and lower fT4 in the 2nd and 3rd trimesters. CONCLUSIONS: Using appropriate trimester-specific reference intervals may improve care of pregnant women by preventing misdiagnosis and inadequate treatment.

10.
Endokrynol Pol ; 68(1): 42-46, 2017.
Article in English | MEDLINE | ID: mdl-28255979

ABSTRACT

INTRODUCTION: Gastroenteropancreatic neuroendocrine neoplasms (GEPNEN) are rare and heterogeneous tumours with variable biology. The aim of this study was to evaluate the epidemiology of GEPNEN in the population of Krakow and Krakow district in 2007-2011. MATERIAL AND METHODS: The Database of the Chair and Department of Endocrinology, Jagiellonian University Medical College, comprising the data on NEN cases collected from the Endocrinology Department, University Hospital in Krakow and from independent sources: surgery, pathology, and endocrinology departments located in the Krakow area, was searched for cases of GEPNEN patients living in Krakow and Krakow district, diagnosed between 2007 and 2011. Eighty-eight such patients (39 males, 49 females, median age at diagnosis 59 ± 17 years) were identified and characterised. RESULTS: The mean follow-up time was 2.67 ± 1.6 years. The most frequent primary location of GEPNEN was small intestine (20%), followed by the appendix (18%), stomach (16%), pancreas (16%), rectum (15%), and colon (15%). NENG1 predominated (64%) in the analysed group. Most well-differentiated GEPNEN (63%) were diagnosed at stage I; however, 18% of them were diagnosed at stage IV. Metastases at diagnosis were found in 31% of patients. The GEPNEN incidence rate in 2007-2011 was 2.1/100000 inhabitants/year, without significant increase during the studied period. CONCLUSIONS: GEPNEN incidence and epidemiology in the population of Krakow and Krakow district is similar to the incidence observed in most European countries. Registers are important tools to evaluate GEPNEN epidemiology. (Endokrynol Pol 2017; 68 (1): 42-46).


Subject(s)
Intestinal Neoplasms/epidemiology , Neuroendocrine Tumors/epidemiology , Pancreatic Neoplasms/epidemiology , Stomach Neoplasms/epidemiology , Female , Humans , Incidence , Male , Poland/epidemiology
11.
Mol Med Rep ; 14(3): 2061-6, 2016 Sep.
Article in English | MEDLINE | ID: mdl-27430871

ABSTRACT

The present study describes a family with multiple endocrine neoplasia type 1 (MEN1) caused by a previously undescribed in-frame deletion c.1246_1248delGCC (Ala416del) in the MEN1 gene. Evidence for the pathogenic character of this mutation, which triggers an aggressive clinical outcome, is demonstrated. Aggregation analysis in the tested family was strongly suggestive of causality of the detected mutation. This was supported by the analysis of LOH (loss of heterozygosity) in tumor-derived DNA and by computational analysis of the functional and structural implications of the mutation. Different phenotypic characteristics were identified among family members, which is typical for MEN1. Additionally, an unexpected disease inheritance pattern was observed in this kindred, in which either all or none of the siblings of one branch inherited the disease.


Subject(s)
Inheritance Patterns , Multiple Endocrine Neoplasia Type 1/diagnosis , Multiple Endocrine Neoplasia Type 1/genetics , Phenotype , Proto-Oncogene Proteins/genetics , Reading Frames , Sequence Deletion , Adult , Exons , Female , Genotype , Humans , Loss of Heterozygosity , Male , Models, Molecular , Multiple Endocrine Neoplasia Type 1/mortality , Pedigree , Protein Conformation , Proto-Oncogene Proteins/chemistry , Young Adult
12.
Endokrynol Pol ; 66(4): 344-54, 2015.
Article in English | MEDLINE | ID: mdl-26323472

ABSTRACT

Hyperinsulinaemic hypoglycaemia (HH) is also classically referred to as "nesidioblastosis". Heterogeneous clinical manifestation of the disease causes risk of late diagnosis or even misdiagnosis. In infants and children, it can lead to serious and permanent damage to the central nervous system, which leads to the manifesting mental retardation. HH is characterised by unregulated insulin secretion from pancreatic ß-cells. This effect has been correlated with nine genes: ABCC8, KCNJ11, GCK, GLUD-1, HADH1, SLC16A1, HNF4A, HNF1A, and UCP2. Mutations in these genes were found in approximately 48% of cases. The genetic background of the remaining cases is unknown. Understanding the genetic basis of familial hyperinsulinism has changed the early look at the disease. It has allowed for the differentiation of specific types of the disease. Depending on which of the nine disease-associated loci bears a pathogenic mutation, they differ in phenotype and pattern of inheritance. This review provides a brief overview of the genetic mechanisms of HH and its possible clinical presentations.


Subject(s)
Hypoglycemia/genetics , Mutation , Nesidioblastosis/genetics , Adult , Humans , Hypoglycemia/metabolism , Nesidioblastosis/metabolism
13.
Endokrynol Pol ; 66(2): 176-86, 2015.
Article in English | MEDLINE | ID: mdl-25931048

ABSTRACT

Amiodarone, a benzofuranic iodine-rich antiarrhythmic drug, causes thyroid dysfunction in 15-20% of cases. Amiodarone can cause both hypothyroidism (AIH, amiodarone-induced hypothyroidism) and thyrotoxicosis (AIT, amiodarone-induced thyrotoxicosis). AIH is treated by L-thyroxin replacement and does not need amiodarone discontinuation. There are two main forms of AIT: type 1, a form of true iodine-induced hyperthyroidism; and type 2, a drug-induced destructive thyroiditis. However, mixed/indefinite forms exist, contributed to by both pathogenic mechanisms. Type 1 AIT usually occurs in diseased thyroid glands, whereas type 2 AIT develops in substantially normal thyroid glands. Thioamides represent the first-line treatment for type 1 AIT, but iodine-replete glands are poorly responsive; sodium/potassium perchlorate, by inhibiting thyroidal iodine uptake, may increase the response to thioamides. Type 2 AIT is best treated by oral glucocorticoids. Response depends on thyroid volume and severity of thyrotoxicosis. Mixed/indefinite forms may require a combination of thioamides, potassium perchlorate, and steroids. Radioiodine treatment is usually not feasible because amiodarone-related iodine load decreases thyroidal radioiodine uptake. Thyroidectomy represents an important and helpful option in cases resistant to medical therapy. Surgery performed by a skilled surgeon may represent an emergent treatment in patients who have severe cardiac dysfunction.


Subject(s)
Amiodarone/adverse effects , Anti-Arrhythmia Agents/adverse effects , Hypothyroidism/chemically induced , Thyroid Gland/drug effects , Thyrotoxicosis/chemically induced , Aged , Female , Glucocorticoids/therapeutic use , Humans , Hypothyroidism/drug therapy , Hypothyroidism/surgery , Male , Middle Aged , Thioamides/therapeutic use , Thyrotoxicosis/drug therapy , Thyrotoxicosis/surgery , Thyroxine/therapeutic use
14.
Pol Arch Med Wewn ; 125(5): 337-46, 2015.
Article in English | MEDLINE | ID: mdl-25924181

ABSTRACT

INTRODUCTION: Gastroenteropancreatic neuroendocrine neoplasms (GEP-NENs) constitute a rare and heterogeneous group of tumors with varied biology. OBJECTIVES: The aim of this study was to establish the clinical characteristics of patients with GEP-NEN and identify factors influencing their 5-year survival. PATIENTS AND METHODS: The study included 122 patients living in Kraków or its administrative region, who were diagnosed with GEP-NEN between 2002 and 2011. RESULTS: The mean follow-up period was 4.9 ±2.8 years. The most frequent primary site of the tumor was the small intestine (n = 25; 20%), followed by pancreas (n = 23; 19%), rectum (n = 23; 19%), stomach (n = 21; 17%), appendix (n = 19; 16%), and colon (n = 11; 9%). There were 84 tumors classified as NEN G1; 31, as NEN G2; 5, as neuroendocrine carcinoma; and 1, as mixed adenoneuroendocrine carcinoma. Most well-differentiated GEP-NENs (n = 57; 57%) were diagnosed at stage I according to the American Joint Committee on Cancer / Union for International Cancer Control (AJCC/UICC) classification; 77% of NEN G1 (n = 64) were diagnosed at stage I, but the majority of NEN G2­at stage IV (n = 18; 58%). Metastases at diagnosis were found in 38 patients (34%). In 90% of the cases (n = 101), tumors were hormonally nonfunctional. The overall 5-year survival was 85%. In the univariate analysis, NEN G2 (P = 0.003), higher stage according to the AJCC/UICC classification (P <0.001), and metastases at diagnosis (P <0.001) were associated with poorer prognosis. In standardized multivariate models, higher stage (P = 0.02) and metastases at diagnosis (P = 0.02) were independent risk factors for death. CONCLUSIONS: The most important factors affecting survival of patients with GEP-NENs are tumor stage and the presence of metastases at diagnosis. The analysis of single-center data improves identification of patients with poorer prognosis requiring a more aggressive approach.


Subject(s)
Intestinal Neoplasms/classification , Intestinal Neoplasms/pathology , Neuroendocrine Tumors/classification , Neuroendocrine Tumors/pathology , Pancreatic Neoplasms/classification , Pancreatic Neoplasms/pathology , Stomach Neoplasms/classification , Stomach Neoplasms/pathology , Combined Modality Therapy , Female , Follow-Up Studies , Humans , Intestinal Neoplasms/epidemiology , Intestinal Neoplasms/therapy , Male , Neoplasm Staging , Neuroendocrine Tumors/epidemiology , Neuroendocrine Tumors/therapy , Pancreatic Neoplasms/epidemiology , Pancreatic Neoplasms/therapy , Poland , Prognosis , Risk Factors , Stomach Neoplasms/epidemiology , Stomach Neoplasms/therapy , Survival Rate
15.
Przegl Lek ; 71(9): 469-74, 2014.
Article in English | MEDLINE | ID: mdl-25632784

ABSTRACT

UNLABELLED: The aim of the study was to evaluate the glucose metabolism in patients suffering from ethanol withdrawal syndrome. The study group comprised 88 alcohol dependent men aged 21- 50 y (mean 39.18 years, SD ±7.78), treated at the Clinical Toxicology Ward. Alcohol dependence was diagnosed accord- ing to the criteria of the International Statistical Classification of Diseases and Related Human Problems (ICD-10). The degree of alcohol withdrawal syndrome was assessed according to the scale CIWA-Ar. The blood ethanol concentration, and glucose serum concen- tration were measured on admission. On the next post-admission day blood glucose were determined after fasting and at the 0, 60th and 120th minute of an oral glucose tolerance test (OGTT) using 75 g glucose. Basing on the recommendations of Polish Diabetes Association (2013y) the patients were classified into one of groups according to their glucose tolerance test results. RESULTS: Mean duration of alcohol dependence was 10.56 years ± 7.78. A mean CIWA-Ar scale score was 23.95 points ± 2.81. Mean BMI was 24.65 ±3.74, overweight and obesity were determined in 35.22% examined men. Normal glucose tolerance were found in 54.55%, abnormal fasting glucose and/or abnormal glucose tolerance were noted in 23.87%, diabetes in 10.23%, and hypoglycemia in 11.36% of examined patients. Intensity of withdrawal syndrome according to the CIWA- Ar (OR -1.59, p= 0.05) and duration of alcohol consumption (OR -1.01, p=0.03) were the risk factors of diabetes type 2 in examined group. Greater BMI was a protective factor against diabetes type 2 in the study group. There was no significant correlation between risk of hypoglycemia and age, BMI, duration of alcohol consumption, alcohol blood concentration on admission, intensity ofwithdrawal syndrome according to the CIWA- Ar scale. A higher frequency of hypoglycemia was found in patients who declared vodka drinking in interview (at the borderline of statistical significance OR - 7.43, p=0.06). CONCLUSIONS: 1. In the study group of alcohol-dependent men, the risk of diabetes was inversely proportional to BMI value. 2. The risk factors of type 2 diabetes in the alcohol-dependent group included the duration of lasting alcohol drinking and the intensity of withdrawal symptoms according to the CIWA- Ar scale. 3. According to the preference of alcohol type, a higher frequency of hypoglycemia was confirmed only in persons preferring to drink vodka.


Subject(s)
Alcoholism/epidemiology , Alcoholism/metabolism , Blood Glucose/metabolism , Hypoglycemia/epidemiology , Substance Withdrawal Syndrome/epidemiology , Substance Withdrawal Syndrome/metabolism , Adult , Alcohol Drinking/epidemiology , Alcohol Drinking/metabolism , Body Mass Index , Comorbidity , Diabetes Mellitus, Type 2/epidemiology , Ethanol/blood , Humans , Male , Middle Aged , Risk Factors , Young Adult
16.
Przegl Lek ; 71(9): 463-8, 2014.
Article in English | MEDLINE | ID: mdl-25632783

ABSTRACT

OBJECTIVE: Carbon monoxide (CO) exposure is still one of the leading causes of unintentional poisonings. Although its neurological sequels have been extensively studied, the knowledge about cytogenetic conse- quences still remains very limited. The aim of this study was to estimate the genotoxic potential of carbon monoxide in the course of acute poisoning. METHODS: The examined group consisted of 73 patients treated because of accidental acute CO poisoning, and 22 healthy control individuals. Poisoning severity was estimated on the basis of neurological symptoms at admission, age, duration of exposure, carboxyhemoglobin (COHb) level and blood lactate concentration. The cytochalasine-B (cytokinesis blocker) micronucleus assay (CBMN) was used to analyze the cytogenetic alterations in lymphocytes from peripheral blood of the patients. RESULTS: Intoxicated patients displayed higher numbers of micronuclei (MN) than controls. The frequency of MN depended on the age of patients, loss of consciousness, neurological symptoms at admission, and the level of carboxyhemoglobin, but did not correlate with lactate level. We also observed differences in cell responses depending on the gender. CONCLUSION: Our results confirm the presence of cytogenetic changes after carbon monoxide poisoning. Based on these data we conclude, that CO might have genotoxic potential.


Subject(s)
Carbon Monoxide Poisoning/blood , Carbon Monoxide Poisoning/genetics , Carbon Monoxide/toxicity , Lymphocytes/pathology , Micronuclei, Chromosome-Defective/chemically induced , Mutagens/poisoning , Adolescent , Adult , Aged , Aged, 80 and over , Analysis of Variance , Carbon Monoxide/blood , Case-Control Studies , Cell Proliferation/genetics , Female , Humans , Male , Micronucleus Tests , Middle Aged , Smoking/blood , Young Adult
17.
Przegl Lek ; 70(7): 458-62, 2013.
Article in Polish | MEDLINE | ID: mdl-24167948

ABSTRACT

The increasing efficiency of genetic analyzers together with the decreasing price of DNA sequencing per single nucleotide read, makes the method of individual genomes sequencing more available for diagnostic laboratories. Nowadays genome sequencing applications are predominantly used for research purposes but in nearest future we will be using them in routine patient evaluation as we are using analytic approaches based on Sanger method now. New generation sequencing is a tool which gives the researchers excellent possibilities for the realization of personalized medicine assumptions. However, before we will be able to make full use of it, there are still some questions to be answered, as for example who should perform the analysis, interpret results and finally who should be responsible for data management.


Subject(s)
Genetic Diseases, Inborn/diagnosis , Genetic Diseases, Inborn/genetics , Precision Medicine/methods , Sequence Analysis, DNA/methods , Humans
18.
Int Rev Immunol ; 32(3): 337-54, 2013 Jun.
Article in English | MEDLINE | ID: mdl-23617710

ABSTRACT

Hashimoto's thyroiditis (HT), an autoimmune thyroid disease (AITD), is becoming more and more prevalent in the recent years. Data on family and twin studies carry evidence for strong genetic influence on AITD susceptibility and development. The most common approaches to unravel the background of those diseases are whole genome screening and candidate gene analysis. Common Hashimoto's thyroiditis and Graves' disease (GD) genes have been identified, as well as genes that are characteristic for only one of those diseases. Because of the complex nature of AITD, caused by their polygenic nature and a complex mode of inheritance, there are still more questions to be answered than answers that can be given, especially about the nature of Hashimoto's thyroiditis. There are plenty of papers concerning the pathogenesis of AITD. However, not seldom do they end up in conclusions about GD, because the results for this disease are far clearer and more unambiguous than those obtained for HT. Similarly, meta-analyses and especially reviews most often concentrate on AITD in general or on GD alone. In this review, Hashimoto's thyroiditis is the main player. It aims to review the state of the art about the background of the development of this disease.


Subject(s)
Antigens, CD/genetics , CTLA-4 Antigen/genetics , Hashimoto Disease/genetics , Animals , Genetic Association Studies , Genetic Linkage , Genetic Predisposition to Disease , Genotype , High-Throughput Nucleotide Sequencing , Humans , Polymorphism, Genetic , Transcriptome
19.
Eur J Nucl Med Mol Imaging ; 40(4): 524-31, 2013 Apr.
Article in English | MEDLINE | ID: mdl-23224740

ABSTRACT

PURPOSE: The objective of this article is to present a new method for the diagnosis of insulinoma with the use of [Lys(40)(Ahx-HYNIC-(99m)Tc/EDDA)NH2]-exendin-4. METHODS: Studies were performed in 11 patients with negative results of all available non-isotopic diagnostic methods (8 with symptoms of insulinoma, 2 with malignant insulinoma and 1 with nesidioblastosis). In all patients glucagon-like peptide-1 (GLP-1) receptor imaging (whole-body and single photon emission computed tomography/CT examinations) after the injection of 740 MBq of the tracer was performed. RESULTS: Both sensitivity and specificity of GLP-1 receptor imaging were assessed to be 100 % in patients with benign insulinoma. In all eight cases with suspicion of insulinoma a focal uptake in the pancreas was found. In six patients surgical excision of the tumour was performed (type G1 tumours were confirmed histopathologically). In one patient surgical treatment is planned. One patient was disqualified from surgery. In one case with malignant insulinoma pathological accumulation of the tracer was found only in the region of local recurrence. The GLP-1 study was negative in the other malignant insulinoma patient. In one case with suspicion of nesidioblastosis, a focal accumulation of the tracer was observed and histopathology revealed coexistence of insulinoma and nesidioblastosis. CONCLUSION: [Lys(40)(Ahx-HYNIC-(99m)Tc/EDDA)NH2]-exendin-4 seems to be a promising diagnostic tool in the localization of small insulinoma tumours, but requires verification in a larger series of patients.


Subject(s)
Insulinoma/diagnostic imaging , Organotechnetium Compounds , Pancreatic Neoplasms/diagnostic imaging , Peptides , Radiopharmaceuticals , Receptors, Glucagon/analysis , Adolescent , Adult , Aged , Exenatide , Female , Glucagon-Like Peptide-1 Receptor , Humans , Hydrazines/chemistry , Hypoglycemic Agents/chemistry , Hypoglycemic Agents/metabolism , Male , Middle Aged , Nicotinic Acids/chemistry , Organotechnetium Compounds/chemistry , Peptides/chemistry , Peptides/metabolism , Radionuclide Imaging , Radiopharmaceuticals/chemistry , Receptors, Glucagon/metabolism , Venoms/chemistry , Venoms/metabolism , Young Adult
20.
Przegl Lek ; 69(8): 427-30, 2012.
Article in Polish | MEDLINE | ID: mdl-23243900

ABSTRACT

The aim of this paper was the assessment of alcohol model in population of men living in big city. To achieve this target we used data concerning alcohol drinking model incorporated in questionnaire filled by men participants of the Multicentre Studies and Epidemiology of Diabetes conducted from 1998 to 2000, 35-75 years of age, living in the Podgórze district of the city of Kraków. Based on declared data involved drinking frequency and alcohol amount drunk in one sitting in population of 1074 men, 35-75 years of age, we determined that 46.7% participants used to drink more than 2 times weekly and 17.8% drinking alcohol every day or almost every day. Analysis of amount of drunk alcohol in one sitting shown that 81.4% participants use to drink more than 4 standard alcohol units in one sitting and 35% drunk more than 10 standard alcohol units per one sitting. Additionally, in subpopulation of men, 35-50 years of age, so it means at the peak of professional activity period, only 17.76% declared moderate model of alcohol drinking. This study helps to provide proper health services for alcohol addicted persons and induces to active seeking for persons with alcohol drinking problem. It is important not only from improvement of public health point of view but also for social and economic harm reductions followed by alcohol drinking.


Subject(s)
Alcohol Drinking/epidemiology , Adult , Age Distribution , Aged , Ethanol/administration & dosage , Humans , Male , Middle Aged , Models, Statistical , Poland/epidemiology , Substance Abuse Detection/statistics & numerical data , Surveys and Questionnaires
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