HSPB1 mutation causing distal Hereditary Motor Neuropathy type 2B in a Polish family.

The heat-shock protein beta-1 (HSPB1) is one of small heat-shock proteins that play an important role in cell functioning by promoting correct folding of other proteins. The HSPB1 mutations are known to cause distal Hereditary Motor Neuropathy type 2B (dHMN2B) and Charcot-Marie-Tooth disease type 2F (CMT2F). More than 30 different mutations in the HSPB1 have been found in patients with CMT2F and dHMN2B. There are cases of the Thr151Ile HSPB1 mutation described in 4 countries: Croatia, Japan, France and Poland. In this paper we present a Polish family with p.Thr151Ile mutation causing distal hereditary motor neuropathy. A 48-year-old male patient presented progressive bilateral lower limb weakness and gait difficulty of typical onset. The presentation of the disease in his daughter, who carries the same mutation is yet uncertain. She has currently no clinical symptoms of the disease but registered mild muscle damage in EMG with correct conduction parameter in ENG.

Quality of life assessment in patients with Graves' disease and progressive infiltrative ophthalmopathy during combined treatment with methylprednisolone and orbital radiotherapy.

INTRODUCTION: The aim of the study was to assess quality of life (QoL) in patients with infiltrative form of Graves' ophthalmopathy (GO) during the combined pulse treatment with methylprednisolone and orbital radiotherapy, and also to search for the relation between the results of ophthalmopathy treatment and changes in QoL. MATERIAL AND METHODS: The study involved 29 patients aged 25-74 (the mean age: 52 +/- 6 years) with infiltrative form of GO. They were classified for ophthalmopathy treatment on the basis of the following factors: the obtained euthyreosis, progressive character of eye changes, the level of eye changes determined on the basis of NO SPECS classification (at least class 3c), ophthalmopathy index (OI) according to Donaldson >or= 4. GO was diagnosed as active if CAS (clinical activity score) >or= 4. During the treatment, the patients received 6 cycles of methylprednisolone sodium succinate in doses of 1,0 g/24 h given as one-hour-long intravenous infusions for three successive days in a week. Between the 2nd and 4th cycle of Solu-Medrol, orbital radiotherapy with 10 MeV X-rays was performed. The control group was made up of healthy volunteers selected with regard to sex, age, educational background and nicotine addiction so as they corresponded with the study group. It involved 53 individuals aged 21-75 (the mean age: 52,4 +/- 14 years). QoL was assessed by means of the MOS SF-36 questionnaire. RESULTS: Patients with GO evaluated their QoL lower than healthy individuals, which referred to physical functioning, physical and emotional role functioning, general health, vitality, social functioning, mental health and bodily pain. No correlation was found between quality of life and such factors as age, sex, or duration time of Graves disease and ophthalmopathy. Analogically, no relation was observed between the activity and stage of clinical development of eye changes and QoL. The use of the combined GO therapy contributed to a considerable decrease in the development of eye changes and the disease activity. After treatment, the patients' QoL improved which referred to physical role functioning, bodily pain, and vitality. Other QoL parameters did not statistically significantly differ. CONCLUSIONS: GO causes a considerable worsening of QoL. The stage of clinical development and activity of GO find no reflection in QoL. Effectiveness of treatment for GO cannot be evaluated on the basis of changes in QoL.

Level of knowledge concerning diet in type 2 diabetic patients and nurses.

Introduction: Among patients with diabetes, there are many myths concerning food products which are believed to lower or not influence the blood glucose (BG) level. The aim of this study was to assess the knowledge of patients with diabetes and hospital nurses concerning popular food products and their impact on BG levels. Materials and methods: The study group consisted of 250 patients with diabetes (DM), members of the Polish Diabetes Association; the other group consisted of 123 healthy nurses (N) from 3 hospitals in Szczecin, Poland. Participants were asked to complete a questionnaire on products common in diabetic diet (grapefruit, honey, coffee substitute, diabetic chocolate, milk soup, pork neck) and their influence on BG levels. Results: The highest percentage of wrong answers was given for pork (DM 71%; N 83%, NS) and grapefruit (DM 51%; N 77%, p < 0.01), while the most correct answers were for honey (DM 69%; N 80%; p < 0.05) and milk soup (DM 64%; N 67%, NS). Negative correlation was found between the number of correct answers and the age of patients (r(s) = −0,14; p < 0.01;) and no correlation between the number of correct answers and the duration of diabetes mellitus (NS). Patients treated with insulin provided correct answers significantly more frequently than patients on oral medication only (44% vs 34.8%; p < 0.01). Conclusions: 1. The level of knowledge concerning products commonly used in diabetic diet among patients with diabetes and hospital nurses is low. 2. Both groups, patients and hospital nurses, need education about diabetic diet.

[Acceptance of screening colonoscopy in the prevention of colorectal cancer in relation to some demographic factors]. / Akceptowalnosc przesiewowych badan kolonoskopowych w profilaktyce raka jelita grubego w zaleznosci od niektórych czynników demograficznych.

UNLABELLED: Colorectal cancer is a quite common neoplasm. Screening colonoscopies and polypectomies can decrease the incidence of that neoplasm by 75%. Discovering the most frequent reasons and most convincing sources of information about the examinations is important for success of screening programme. OBJECTIVES: The aim of this study was to find the connection between some demographic factors, the source of information about the examination and the consent for colonoscopy. MATERIAL AND METHODS: Two groups of subjects, aged 40-65, were included: 1000 subjects, who gave their consent for colonoscopy and 200 subjects, who refused the examination. The sources of information were two kinds of questionnaires: fulfilled before colonoscopy and in case of lack of consent for the examination, which included demographic data, the reason of undergoing or refusal of colonoscopy and the source of information about the examination. RESULTS: The higher educated were the subjects, the more often they agreed for the examination; among subjects after university 87%, and among subjects with elementary education 71% gave their consent for colonoscopy. The most convincing sources of information were the medial sources; 100% of subjects, who found out about the examination from television and radio, gave their consent for colonoscopy. The most frequent reason of undergoing the examination was prophylaxis (54.6%), and the most frequent reasons of refusal was fear of pain (33.5%). CONCLUSIONS: Educational level and the source of information about the examination are the factors that have an important influence on undergoing screening colonoscopy. Identifying the influence of some demographic factors on the consent for colonoscopy and the efficacy of each source of information seems to be very important for the success of screening colonoscopy programme and therefore for discovering adenomatous polyps and colorectal cancer.

False diagnosis of type 1 diabetes mellitus and its complications in Wolfram syndrome--is it the reason for the low number of reported cases of this abnormality?

Wolfram syndrome (WS), also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness), is a rare autosomal recessive syndrome (1/770,000 in the United Kingdom), characterised by juvenile onset of diabetes mellitus, optic nerve atrophy, diabetes insipidus, sensorineural deafness, renal tract and neurological abnormalities, and primary gonadal atrophy. WS is caused mainly by biallelic mutations in the WFS1 gene, which encodes wolframin. Wide tissue distribution of wolframin and many mutations in the wolframin gene resulting in Wolfram syndrome may contribute to different phenotypes and the unusual combinations of clinical features. We describe a female patient with Wolfram syndrome diagnosed at the age of 25, with a previous false diagnosis of type 1 diabetes mellitus and misdiagnosed diabetic complications. The patient was found to be a compound heterozygote for two novel mutations in exon 8 of WFS1 gene: a 2-bp deletion AT at nt 1539 leading to a frameshift (Y513fs) and a single-base substitution 1174C > T resulting in a stop codon (Q392X). A detailed analysis of the patient's medical history and a review of the literature suggest that many cases of Wolfram syndrome may remain undiagnosed due to misdiagnosis as type 1 diabetes mellitus and incorrect interpretation of clinical symptoms of neurodegenerative abnormalities, especially in their early stages.

The common C49620T polymorphism in the sulfonylurea receptor gene SUR1 (ABCC8) in patients with gestational diabetes and subsequent glucose metabolism abnormalities.

AIM: The aim of this study is to investigate the relationship between the common C49620T polymorphism in the sulfonylurea receptor (SUR1) gene and glucose metabolism, ß-cell secretory function and insulin resistance in women with a history of gestational diabetes (GDM). MATERIAL AND METHODS: Study group included 199 women, diagnosed GDM within the last 5-12 years and control group of comparable 50 women in whom GDM was excluded during pregnancy. Blood glucose and insulin levels were measured during oral glucose tolerance test. Indices of insulin resistance (HOMA-IR) and ß-cell function (HOMA %B) were calculated. In all patients, the C49620T polymorphism in intron 15 of the SUR1 gene was determined. RESULTS: The distribution of the studied polymorphism in the two groups did not differ from each other (χ(2) = 0.34, P = 0.8425). No association between the distribution of polymorphisms and coexisting glucose metabolism disorders (χ(2) = 7,13, P = 0, 3043) was found. No association was also observed between the polymorphism and HOMA %B or HOMA-IR. CONCLUSIONS: The polymorphism C49620T in the SUR1 gene is not associated with insulin resistance and/or insulin secretion in women with a history of GDM and does not affect the development of GDM, or the development of glucose intolerance in the studied population.

Difficulties in interpreting HbA(1c) results.

Glycated hemoglobin (HbA(1c)) is a parameter broadly employed in the assessment of glycemic control in diabetes. The 2010 "Standards of medical care in diabetes", published by the American Diabetes Association (ADA), recommended performing the HbA(1c) test at least every 6 months in patients in whom disease is clinically stable, while subjects after modifications of therapy or in whom glycemic goals have not been met should be tested every 3 months. Moreover, the ADA suggested the HbA(1c) assay be implemented in the diagnosis of diabetes and in the detection of an increased risk of developing this disease. Among various approaches employed to measure the concentration of HbA(1c), high-pressure liquid chromatography is considered to be a reference method. HbA(1c) tests might not be clinically reliable in some circumstances. In cases when HbA(1c) levels do not correlate with glycemia and clinical symptoms, the results should be interpreted with caution, several conditions known to influence the measurement should be taken into account, and use of another diagnostic method, or even testing another marker of glycemic control, e.g., fructosamine or 1,5-anhydroglucitol, should be considered.

Diabetes care and self-monitoring of type 2 diabetic patients in a rural district of West-Pomeranian Province.

INTRODUCTION: Few surveys conducted in diabetic patients from rural regions show that in these subjects monitoring of diabetes is worse than in patients from urban areas. OBJECTIVES: To assess methods of diabetes care provided for type 2 diabetic patients residing in a rural region and methods of the patient self-monitoring of glycemia, blood pressure and foot self-care. PATIENTS AND METHODS: The survey was conducted in a rural district of West-Pomeranian province, in the primary health care center, where 279 type 2 diabetic patients were registered. Out of all patients invited to participate in a questionnaire survey, 168 were enrolled. The mean age of subjects was 67.2 +/- 9.9 years (range 46-91 years), diabetes duration of 8.2 +/- 6.6 years, and body mass index of 32.6 +/- 6.3 kg/m2. Data concerning diabetes care and methods of the patient self-control of glycemia, blood pressure and foot self-care were collected. RESULTS: The majority of patients (62%) were treated only by general practitioners, but 80% reported that they visited their doctors for diabetes treatment once a month. For 90% of subjects the term ,HbA1c" was unknown. Only 40% of patients performed self-monitoring of glycemia, 55%--of blood pressure and 34% examined their feet. CONCLUSIONS: The vast majority of patients from a rural region in West-Pomeranian province is treated only by general practitioners. Despite quite frequent medical visits related to diabetes, education of patients is still unsatisfactory, which was demonstrated by patients' lack of knowledge concerning the basic parameter of laboratory monitoring, HbA1c, as well as insufficient self-management of glycemia, blood pressure and infrequent foot exam.

Low predictive value of traditional risk factors in identifying women at risk for gestational diabetes.

BACKGROUND: There is no worldwide agreement on the best way to screen for gestational diabetes mellitus (GDM), and different diagnostic methods have been developed in order to identify women at risk. The aim of this study was to evaluate the prevalence and predictive value of the traditional risk indicators for GDM in a large group of Caucasian women. METHODS: We evaluated the frequency distribution of age, body mass index (BMI), prior macrosomia, prior GDM, and family history of diabetes of 1,414 pregnant women with GDM and 1,011 healthy pregnant women. RESULTS: The distribution of risk factors in both groups was different and significantly higher in GDM women. The cut-off value for age was 28 years, and 23 kg/m2 for BMI. The accumulation of two or more risk factors was frequent in GDM, but not in healthy women. By multiple logistic regression, there were significant interactions between independent variables of interest and GDM (OR: 3.19; p<0.001; sensitivity: 57.9%, specificity: 69.8%). The strongest predictors were prior GDM (OR: 4.35;95% CI: 2.42-7.82) and a family history of diabetes (OR: 3.03; 95% CI: 2.47-3.72); less predictive were age (OR: 1.69;95% CI: 1.44-1.99), BMI (OR: 1.50; 95% CI: 1.28-1.77), and prior macrosomia (OR: 1.64; 95% CI: 1.19-2.26). CONCLUSIONS: Selective screening based on traditional risk factors for GDM had relatively low sensitivity, and identified <60% of Caucasian women at risk. The cut-off value for BMI as a risk indicator (23 kg/m2) was lower than that proposed by guidelines about screening for GDM.

[Acceptance of screening colonoscopy for the prevention of colorectal cancer]. / Akceptowalnosc przesiewowych badan kolonoskopowych w profilaktyce raka jelita grubego.

BACKGROUND: Morbidity and mortality in colorectal cancer are on the rise. Colonoscopy and polypectomy helps to decrease the incidence of colorectal cancer by 75%. This is the first analysis acceptance of screening colonoscopies in Poland. AIMS: The study was designed to (1) analyze common reasons for consent or refusal to undergo colonoscopy; (2) review the value of diverse sources of information on colonoscopy; (3) determine whether participation in screening colonoscopy programme was connected with participation in other screening examinations; (4) examine the range of pathologic findings; and (5) detect various pathological findings and their location. MATERIAL AND METHODS: Two groups of subjects aged 40-65 years were formed: I--consenting to colonoscopy (n=1000) and II--refusing to undergo the examination (n=200). Subjects aged 40-49 years were included when at least one of their first-degree relatives was previously diagnosed with colorectal cancer. Lack of any sign of cancer was requisite for enrollment. Data was extracted from questionnaires filled before and after the examination. CONCLUSIONS: The most common reason for consent to colonoscopy was prophylaxis, while refusal was usually due to fear of pain. The most convincing sources of information on colonoscopy were the media. Persons who undergo screening tests for other cancers were more inclined to undergo screening colonoscopy as well. Bowel preparation was more difficult and more inconvenient than the examination itself. Screening colonoscopies are valuable because they enable detection of cancer and adenomatous polyps in asymptomatic patients. Rectosigmoidoscopy would fail to disclose the pathology in 20% of our subjects found positive by colonoscopy.

[Colorectal cancer in twins. Report of two cases]. / Rak jelita grubego u blizniat. Opis przypadku.

Colorectal cancer is one of the most common neoplasms that often occurs in several members of family. In this communication we present the case of synchronous colorectal cancers with similar localization and similar clinical course in monozygotic twins.