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1.
J Pediatr Endocrinol Metab ; 37(6): 571-574, 2024 Jun 25.
Article in English | MEDLINE | ID: mdl-38630895

ABSTRACT

OBJECTIVES: The mitochondrial elongation factor Tu (EF-Tu), encoded by the TUFM gene, is a GTPase, which is part of the mitochondrial protein translation mechanism. If it is activated, it delivers the aminoacyl-tRNAs to the mitochondrial ribosome. Here, a patient was described with a homozygous missense variant in the TUFM [c.1016G>A (p.Arg339Gln)] gene. To date, only six patients have been reported with bi-allelic pathogenic variants in TUFM, leading to combined oxidative phosphorylation deficiency 4 (COXPD4) characterized by severe early-onset lactic acidosis, encephalopathy, and cardiomyopathy. CASE PRESENTATION: The patient presented here had the phenotypic features of TUFM-related disease, lactic acidosis, hypotonia, liver dysfunction, optic atrophy, and mild encephalopathy. CONCLUSIONS: We aimed to expand the clinical spectrum of pathogenic variants of TUFM.


Subject(s)
Peptide Elongation Factor Tu , Humans , Acidosis, Lactic/genetics , Mitochondria/genetics , Mitochondria/pathology , Mitochondrial Diseases/genetics , Mitochondrial Diseases/pathology , Mitochondrial Proteins , Mutation , Mutation, Missense , Peptide Elongation Factor Tu/genetics , Prognosis
2.
Joint Bone Spine ; 90(1): 105490, 2023 01.
Article in English | MEDLINE | ID: mdl-36410683

ABSTRACT

BACKGROUND: Mevalonate kinase (MVK) plays a role in cholesterol and non-sterol isoprenoid biosynthesis and its deficiency-related diseases are caused by bi-allelic pathogenic mutations in the MVK gene, (MVK), which leads to rare hereditary autoinflammatory diseases. The disease may manifest different clinical phenotypes depending on the degree of the deficiency in the enzyme activity. The complete deficiency of the enzyme activity results in the severe metabolic disease called mevalonic aciduria, while a partial deficiency results in a broad spectrum of clinical presentations called hyper-immunoglobulin D syndrome (HIDS). Serum immunoglobulin (Ig) D and urine mevalonic acid levels may be increased during inflammatory attacks of HIDS. CASE PRESENTATION: Herein, for the first time in the literature, we present a 6-year-old male patient who suffered from recurrent episodes of fever, polyarthritis, skin rash, diarrhea, abdominal pain, and inflammatory bowel disease-like manifestations with elevated levels of serum IgD, and urine mevalonic acid. Eventually we detected compound heterozygous mutations in the phosphomevalonate kinase (PMVK) gene coding the second enzyme after mevalonate kinase in the mevalonate pathway. CONCLUSION: For patients presenting with HIDS-like findings, disease exacerbations and persistent chronic inflammation, and having high urinary mevalonic acid and serum IgD levels, raising suspicion in terms of MVK deficiency (MVKD), it is recommended to study all mevalonate pathway enzymes, even if there is no mutation in the MVK gene. It should be kept in mind that novel mutations might be seen such as PMVK gene.


Subject(s)
Hereditary Autoinflammatory Diseases , Mevalonate Kinase Deficiency , Humans , Male , Hereditary Autoinflammatory Diseases/diagnosis , Hereditary Autoinflammatory Diseases/genetics , Immunoglobulin D , Mevalonate Kinase Deficiency/diagnosis , Mevalonate Kinase Deficiency/genetics , Mevalonic Acid , Phosphotransferases (Alcohol Group Acceptor)/genetics , Phosphotransferases (Alcohol Group Acceptor)/metabolism , Child
3.
J Pediatr Endocrinol Metab ; 35(4): 451-462, 2022 Apr 26.
Article in English | MEDLINE | ID: mdl-35038814

ABSTRACT

OBJECTIVES: To reveal the different clinical presentations of liver glycogen storage disease type IX (GSD IX), which is a clinically and genetically heterogeneous type of glycogenosis. METHODS: The data from the electronic hospital records of 25 patients diagnosed with liver GSD IX was reviewed. Symptoms, clinical findings, and laboratory and molecular analysis were assessed. RESULTS: Of the patients, 10 had complaints of short stature in the initial presentation additionally other clinical findings. Elevated serum transaminases were found in 20 patients, and hepatomegaly was found in 22 patients. Interestingly, three patients were referred due to neurodevelopmental delay and hypotonia, while one was referred for only autism. One patient who presented with neurodevelopmental delay developed hepatomegaly and elevated transaminases during the disease later on. Three of the patients had low hemoglobin A1C and fructosamine values that were near the lowest reference range. Two patients had left ventricular hypertrophy. Three patients developed osteopenia during follow-up, and one patient had osteoporosis after puberty. The most common gene variant, PHKA2, was observed in 16 patients, 10 variants were novel and six variants were defined before. Six patients had variants in PHKG2, two variants were not defined before and four variants were defined before. PHKB variants were found in three patients. One patient had two novel splice site mutations in trans position. It was revealed that one novel homozygous variant and one defined homozygous variant were found in PHKB. CONCLUSIONS: This study revealed that GSD IX may present with only hypotonia and neurodevelopmental delay without liver involvement in the early infantile period. It should be emphasized that although liver GSDIX is thought of as a benign disease, it might present with multisystemic involvement and patients should be screened with echocardiography, bone mineral densitometry, and psychometric evaluation.


Subject(s)
Glycogen Storage Disease Type III , Glycogen Storage Disease , Glycogen Storage Disease/diagnosis , Glycogen Storage Disease/genetics , Glycogen Storage Disease Type III/diagnosis , Glycogen Storage Disease Type III/genetics , Hepatomegaly , Humans , Mutation , Phosphorylase Kinase/genetics
4.
J Pediatr Endocrinol Metab ; 34(6): 805-812, 2021 Jun 25.
Article in English | MEDLINE | ID: mdl-33819415

ABSTRACT

OBJECTIVES: GM2 gangliosidosis is a rare form of inborn errors of metabolism including Tay-Sachs disease, Sandhoff disease, and GM2 activator deficiency. GM2 activator protein deficiency is an ultra-rare form of GM2 gangliosidosis. To date, 16 cases of GM2 activator protein deficiency have been reported in the literature, and among them, 11 cases were the infantile form of the disease. Here we report the first two patients from Turkey with the infantile form of the disease with a novel likely pathogenic variant. CASE PRESENTATION: A boy of eight months old presented to the metabolic department with very mild neurological deterioration, although he had achieved early developmental milestones at the appropriate time. The parents also had a daughter who had lost skills progressively before one year of age. The boy was evaluated and bilateral cherry-red spots were found with no abnormality in either metabolic screening including ß-hexosaminidase or cranial magnetic resonance imaging. A novel homozygous likely pathogenic variant in GM2A was detected in a next-generation sequence panel revealing GM2 activator protein deficiency. His sister was investigated after he was diagnosed with GM2 activator deficiency and it was found that she had the same variant as her brother. CONCLUSIONS: This case report emphasizes that in the event of normal ß-hexosaminidase activity, GM2 activator protein deficiency could be underdiagnosed, and further molecular analysis should be performed. To the best of our knowledge, this boy is one of the youngest patient diagnosed with very mild symptoms. With this novel pathogenic variant, these patients have expanded the mutation spectrum of GM2 activator protein deficiency.


Subject(s)
G(M2) Activator Protein/genetics , Gangliosidoses, GM2/pathology , Female , Gangliosidoses, GM2/genetics , Humans , Infant , Male , Mutation , Pedigree , Phenotype , Prognosis
5.
JPEN J Parenter Enteral Nutr ; 45(8): 1788-1792, 2021 11.
Article in English | MEDLINE | ID: mdl-33882172

ABSTRACT

BACKGROUND: The ketogenic diet (KD) is a low-carbohydrate, high-fat diet that has been used as an effective nonpharmacological treatment in many neurological and metabolic disorders for a long time. The effectiveness of the KD is revealed in mitochondrial disorders, mainly in pyruvate dehydrogenase deficiency. CASE REPORT: A 4-year-old girl who was diagnosed with an F-box and leucine-rich repeat protein 4 (FBXL4) gene mutation was hospitalized with sepsis. She was first given standard parenteral nutrition (PN) because of gastrointestinal problems. During the disease course, lactic acidosis became prominent and did not respond to pharmacological treatment; standard PN was gradually switched to parenteral KD, and lactate levels decreased after parenteral KD. The patient was discharged with an enteral KD. CONCLUSION: This is the first case of mitochondrial depletion syndrome effectively treated with parenteral KD for lactic acidosis.


Subject(s)
Acidosis, Lactic , Diet, Ketogenic , F-Box Proteins , Mitochondrial Diseases , Acidosis, Lactic/etiology , Acidosis, Lactic/therapy , Child, Preschool , F-Box Proteins/genetics , Female , Humans , Mitochondrial Diseases/genetics , Mitochondrial Diseases/therapy , Mutation , Parenteral Nutrition , Ubiquitin-Protein Ligases/genetics
6.
J Bone Miner Metab ; 39(4): 598-605, 2021 Jul.
Article in English | MEDLINE | ID: mdl-33404770

ABSTRACT

INTRODUCTION: Hypophosphatasia (HPP) is caused by mutations in the ALPL that encodes the tissue-nonspecific isoenzyme of alkaline phosphatase (ALP). Clinical manifestations range from extreme life-threatening lethal forms to no signs or symptoms at all. MATERIALS AND METHODS: Consecutive 30,000 outpatients and inpatients with ALP data were screened retrospectively, out of which 1000 patients were found to have low levels of ALP more than once. Then, patients were evaluated for the symptoms and signs of HPP with further biochemical and genetic analyses. RESULTS: Thirty-seven patients who had severe musculoskeletal pain, recurrent fractures, and tooth anomalies were then screened with substrate and DNA sequencing analyses for HPP. It was determined that eight patients had variants in the ALPL gene. A total of eight different ALPL variants were identified in eight patients. The variants, namely c.244G > C (p.Gly82Arg), c.1444C > T (p.His482Tyr), c.1487A > G (p.Asn493Ser), and c.675_676insCA (p.Met226GlnfsTer52), had not been previously reported. DISCUSSION: Considering the wide spectrum of clinical signs and symptoms, HPP should be among the differential lists of bone, muscle, and tooth abnormalities at any age.


Subject(s)
Hypophosphatasia/diagnosis , Physicians , Adult , Alkaline Phosphatase/genetics , Child , Child, Preschool , Female , Humans , Hypophosphatasia/diagnostic imaging , Hypophosphatasia/enzymology , Hypophosphatasia/genetics , Infant , Male , Middle Aged , Mutation/genetics , Retrospective Studies
7.
Breast J ; 24(6): 992-996, 2018 11.
Article in English | MEDLINE | ID: mdl-29781228

ABSTRACT

To investigate the contribution of breast tomosynthesis to intraoperative specimen evaluation in subjects with breast cancer. Approval was obtained from the hospital ethics committee. Specimen mammography, tomosynthesis, and, if available, ultrasonography images were retrospectively assessed for 208 women who had undergone conservative surgery at our hospital between January 2013 and April 2016 after being diagnosed with breast cancer. The success of mammography, tomosynthesis, and ultrasonography in lesion detection and characterization was evaluated. Of 208 lesions, 142 (68.3%) and 198 (95.2%) were detected by mammography and tomosynthesis, respectively. All lesions were detected in 150 subjects undergoing ultrasonography (124 dense breasts, 26 fatty breasts). In 84 women who had fatty breasts, all lesions were detected both by mammography and by tomosynthesis. In 124 women with dense breasts, lesions were detected by mammography in 59 (48%) and in 114 (92%) by tomosynthesis. The success of tomosynthesis in lesion detection was found to be markedly higher than mammography (P = .00). In conclusion, tomosynthesis contributed to mammography in specimen evaluation in a total of 101 subjects. The success of tomosynthesis in lesion detection and characterization during intraoperative specimen evaluation is higher than mammography. In daily practice, ultrasonography is performed for lesions which cannot be evaluated by specimen mammography due to dense parenchymal pattern. Tomosynthesis may reduce the need for and the time and workforce allocated to specimen ultrasonography in an important group of subjects.


Subject(s)
Breast Neoplasms/diagnostic imaging , Breast Neoplasms/surgery , Mammography/methods , Surgery, Computer-Assisted/methods , Adult , Aged , Aged, 80 and over , Breast Neoplasms/pathology , Female , Humans , Mastectomy, Segmental , Middle Aged , Ultrasonography, Mammary
8.
J Pak Med Assoc ; 65(12): 1305-9, 2015 Dec.
Article in English | MEDLINE | ID: mdl-26627512

ABSTRACT

OBJECTIVE: To investigate the relationship between dyspepsia symptom scores and endoscopic appearances, and histopathological findings and helicobacter pylori positivity in patients having dyspepsia symptom. METHODS: The study was conducted at the gastroenterology outpatient clinic of Adnan Menderes University, School of Medicine, Aydin, Turkey from April 2012 to July 2012 and comprised patients between 18-65 years of age who were admitted with dyspepsia. Glasgow dyspepsia severity scoring was done with questions posed orally to the patients. In histopathological evaluation of biopsy specimens according to Sydney criteria, chronic inflammation, activity, atrophy, intestinal metaplasia and helicobacter pylori parameters were used. Total number of eosinophils and number of mast cells were recorded. RESULTS: Of the 60 patients with dyspepsia, 38(63.3%) were female and 22(36.7%) were male. The degree of activation and severity of inflammation increased significantly with increasing helicobacter pylori positivity(r=0.459'p<0.0001; r=0.475'p<0.0001). A significant relationship was found between inflammation, activation and the number of mast cells (p<0.05).There was no relationship between helicobacter pylori intensity and the eosinophil count (r=0.171; p=0.093). There was also a statistically significant correlation between severity of inflammation and activation and the number of eosinophils (r=0.313;p=0.002;r=0.245;p=0.016). CONCLUSIONS: Mast cell density was seen to have a role in the inflammatory processes of helicobacter pylori infection.


Subject(s)
Dyspepsia/microbiology , Dyspepsia/pathology , Endoscopy, Gastrointestinal , Helicobacter Infections/complications , Helicobacter pylori , Adolescent , Adult , Aged , Cohort Studies , Female , Helicobacter Infections/pathology , Humans , Male , Middle Aged , Turkey , Young Adult
9.
Iran J Public Health ; 44(1): 43-50, 2015 Jan.
Article in English | MEDLINE | ID: mdl-26060775

ABSTRACT

BACKGROUND: This study examined the factors that affect loneliness of older people and their relationship with quality of life. METHODS: Data in this cross-sectional study were collected through survey form, UCLA Loneliness Scale and Quality of Life (QOL) Short Form (SF-36) Scale. The total number of elderly people over the age of 65 yr from whom the study population was chosen was 4,170. The study population was determined as 190 with G-power program by taking impact size 0.362, α=0.05, power (1-ß) =0.80 at a confidence level of 95% and a substitute group composing of 10 individuals was added. In total, 83.2% (n=174) of the target population was reached via Multi-Stage Sampling Methods. RESULTS: UCLA Loneliness median score of the participants was 33 (25(th)p= 27, 75(th)p= 40). It was found that the existence of chronic diseases and physical handicaps, regular use of medication, lack of hobbies and living with spouse increased loneliness (P<0.05). A negative relationship was identified between all sub-scales in the QOL scale and loneliness. CONCLUSION: Loneliness negatively affects QOL in old age and that the existence of chronic health problems and lack of hobbies are strong predictors for loneliness. Elderly people living alone must be evaluated as a high-risk group and thus policy makers and health personnel should be aware of the factors that can affect loneliness. In order to increase life quality of the aged population and psychological well-being of the elderly, social support systems must be taken into account and the elderly should be encouraged to participate in social activities.

10.
BMC Public Health ; 12: 437, 2012 Jun 15.
Article in English | MEDLINE | ID: mdl-22703525

ABSTRACT

BACKGROUND: Social determinants have been described as having a greater influence than other determinants of health status. The major social determinants of health and the necessary policy objectives have been defined; it is now necessary to evaluate the effectiveness of these policies. Previous studies have shown that descriptions of the awareness level of citizens and local decision makers, practice-based research and evidence, and intersectoral studies are the best options for investigating the social determinants of health at the community level. The objective of the present study was to define local decision makers' awareness of the social determinants of health in the Aydin province of Turkey. METHODS: A total of 53 mayors serve the Aydin city center, districts and towns. Aydin city center has 22 neighborhoods and 22 headmen responsible for them. The present study targeted all mayors and headmen in Aydin - a total of 75 possible participants. A questionnaire was used to collect the data. The questionnaire was faxed to the mayors and administered face-to-face with the headmen. RESULTS: Headmen identified the three most important determinants of public health as environmental issues, addictions (smoking, alcohol) and malnutrition. According to the mayors, the major determinant of public health is stress, followed by malnutrition, environmental issues, an inactive lifestyle, and the social and economic conditions of the country. Both groups expressed that the Turkish Ministry of Health, municipalities and universities are the institutions responsible for developing health policy. Headmen were found to be unaware and mayors were aware of the social determinants of health as classified by the World Health Organisation. Both groups were classified as unaware with regard to their awareness of the Marmot Review policy objectives. CONCLUSIONS: Studies such as the present study provide important additional information on the social determinants of health, and help to increase the awareness levels of both local decision-makers and the community. Such studies must be considered a vital first step in future public health research on health determinants and their impact on national and international policies.


Subject(s)
Administrative Personnel , Health Knowledge, Attitudes, Practice , Health Policy , Health Status Disparities , Local Government , Adult , Aged , Cities , Cross-Sectional Studies , Female , Humans , Male , Middle Aged , Socioeconomic Factors , Surveys and Questionnaires , Turkey
11.
J Interpers Violence ; 27(7): 1293-313, 2012 May.
Article in English | MEDLINE | ID: mdl-22080579

ABSTRACT

Violence is an increasing and important community health problem that can be seen in any area of human life. Limited studies were found about domestic violence among pregnant women and its relation with social status of women. The aim of this study was to determine the prevalence and types of domestic violence during pregnancy, factors affecting it, women's thoughts about violence, and relation between social status of women and domestic violence. This cross-sectional study was conducted on 253 pregnant women, using cluster and simple random sampling methods. Chi-square test and logistic regression analysis methods were used to analyze the data. Women who indicated that they have been exposed to violence at some point of their lives were 24.1% and who indicated that violence continued while they were pregnant were 11.1%. Physical violence was the most common type of violence reported (18.2%). It was found that women who had primary school or lower level of education and who made unwanted marriage suffered from more violence during pregnancy. It can be said that violence against pregnant women is still a social problem. In societies where gender roles are dominant, decision makers have to take necessary steps such as supporting education of girls to improve social status of women, increasing awareness among women in regard to personal rights and legal regulations which will contribute to the solution of the issue.


Subject(s)
Domestic Violence , Pregnancy , Urban Population , Adolescent , Adult , Cross-Sectional Studies , Domestic Violence/statistics & numerical data , Educational Status , Female , Humans , Self Report , Social Class , Turkey , Young Adult
12.
Health Policy ; 100(2-3): 305-9, 2011 May.
Article in English | MEDLINE | ID: mdl-21185104

ABSTRACT

OBJECTIVES: Tetanus, which is a vaccine preventable disease, remains a significant health concern. The mortality is especially high in elderly and farming is a significant risk factor for the disease. This study evaluates the serological immunity of tetanus and the related factors, in a farmer population. METHODS: This cross-sectional study was carried out in a village located in the western part of Turkey. Volunteer farmers over the age of 50 were included in the study. The study group was determined by the systematic sampling method. IgG class tetanus antibody was measured in sera of each participant. A structured questionnaire evaluating the demographic characteristics was completed by the investigators. RESULTS: A total of 293 participants (55.3% female, 44.7% male) were recruited from March 2010 to June 2010. A serum protective tetanus antitoxin level (> 0.1 IU/ml) was detected in 99 out of 293 (33.9%) of participants. According to univariate analysis; advancing age, female gender, lower education, low monthly income, presence of chronic disease, absent or incomplete vaccination history or being unvaccinated in the last ten years were risk factors for insufficient tetanus immunity. After multiple logistic regression analysis, up-to-date vaccination, gender and age were the only factors that remained independently associated with immune status (p < 0.001). CONCLUSION: Farmers of advancing age are a population at risk for tetanus due to their work environment and their absent or incomplete immunization to the disease. Low rates of immunity detected highlight the importance to explore strategies in order to improve immunization status in this risky population.


Subject(s)
Immunity, Humoral , Tetanus/immunology , Aged , Agriculture , Cross-Sectional Studies , Female , Humans , Immunoglobulin G/blood , Male , Middle Aged , Seroepidemiologic Studies , Tetanus/epidemiology , Turkey/epidemiology
13.
Neuro Endocrinol Lett ; 31(2): 261-4, 2010.
Article in English | MEDLINE | ID: mdl-20424576

ABSTRACT

OBJECTIVE: The roles of endothelin-1 (ET-1) and oxidative stress causing vascular injury in the pathogenesis of diabetic neuropathy are debatable. The present study was undertaken to clarify the possible effects of oxidative stress and ET-1 in diabetic patients with and without peripheric neuropathy. METHODS: We studied plasma ET-1, nitric oxide (NO), catalase, glutathione (GSH) levels of fifty (22 females, 28 males) patients with Type 2 diabetes in order to evaluate endothelial dysfunction and oxidative stress. The neuropathy types (motor, sensorial and sensorimotor), comorbid diseases, antidiabetic treatments, smoking, diabetes duration were also considered. Short McGill Pain Questionnaire (SF-MPQ) was also performed for patients with neuropathy. RESULTS: There were no significant differences between patients with (n=23) and without (n=27) neuropathy with regards to demographic features except diabetic disease duration. The statistical analysis was done considering this difference. Although NO and ET-1 levels were higher, and catalase and GSH levels were decreased in neuropathic patients, no statistical significancy was found. We also couldn't find any correlations between the parameters and SF-MPQ scores. CONCLUSIONS: Although there were no relationships between neuropathy and the studied parameters, we found lower levels of catalase and GSH as intracelluler antioxidants and higher NO and ET-1 as markers of endothelial injury in patients with neuropathy. Our data suggest that there is a need of further studies with larger study groups in order to clear out the role of endothelial injury and oxidative status in the pathogenesis of diabetic neuropathy.


Subject(s)
Diabetes Mellitus, Type 2/physiopathology , Diabetic Neuropathies/physiopathology , Endothelin-1/blood , Endothelium/physiopathology , Neuralgia/metabolism , Oxidative Stress , Adult , Aged , Catalase/blood , Diabetes Mellitus, Type 2/blood , Diabetic Neuropathies/blood , Female , Glutathione/blood , Humans , Male , Middle Aged , Neuralgia/blood , Neuralgia/physiopathology , Nitric Oxide/blood , Surveys and Questionnaires
14.
Anadolu Kardiyol Derg ; 9(4): 304-10, 2009 Aug.
Article in English | MEDLINE | ID: mdl-19666433

ABSTRACT

OBJECTIVE: The study was conducted to determine the level of knowledge and awareness of risk factors and warning signs of heart attack in a selected sample of the Turkish population. METHODS: Population-based cross-sectional study was carried out with people over age 40 years in Aydin. The study group was determined by multi-stage sampling method (simple random and cluster sampling methods). Questionnaire was administered during face-to-face interviews in the participants' homes. Chi-square and t-test were used for analytical evaluation. Risk assessments were performed utilizing logistic regression analysis. RESULTS: The percentage of participants who did not know what a heart attack is and its warning signs were 42.3% and 23.2%, respectively. Overall, 11.8% were unaware of risk factors. Loss of consciousness/fainting, chest pain, radiation of pain were reported as three major warning signs. Among risk factors, stress was ranked as the most common, followed by smoking. It was determined that age, place of residence, education, occupation, self-reported risk factors had effect on the knowledge for major warning signs (p<0.05). In multivariate analysis, the factors having a negative effect on knowledge of major warning signs were having primary school/lower level of education (OR=2.447, 95%CI 1.773-3.378; p<0.0001), being older (OR=1.020, 95%CI 1.007-1.032, p=0.002), living in urban area (OR=1.493, 95%CI 1.133-1.968, p=0.004), being unemployed (OR=1.436, 95%CI 1.010-2.041, p=0.044) and absence of self-reported risk factors (OR=1.965, 95%CI 1.201-3.216, p=0.007). The percentage of participants stated that the first action to take for a person having heart attack was to put them on their back, open their collar, elevate their feet was 24.1%. They had learned information about the symptoms and the risk factors from television (28.6%) and neighbors/relatives (28.3%). CONCLUSION: This study revealed the need for increasing awareness utilizing community based education programs and the mass media.


Subject(s)
Awareness , Myocardial Infarction/epidemiology , Myocardial Infarction/psychology , Patient Education as Topic , Adult , Age Distribution , Aged , Aged, 80 and over , Cluster Analysis , Cross-Sectional Studies , Female , Health Knowledge, Attitudes, Practice , Humans , Logistic Models , Male , Middle Aged , Myocardial Infarction/etiology , Myocardial Infarction/prevention & control , Population Surveillance , Risk Assessment , Risk Factors , Socioeconomic Factors , Surveys and Questionnaires , Turkey/epidemiology , Urban Population
15.
BMC Neurol ; 8: 15, 2008 May 13.
Article in English | MEDLINE | ID: mdl-18477393

ABSTRACT

This descriptive, hospital-based study, performed in western Turkey, was designed to assess the level of pre-hospital delay and reasons for such delay in acute stroke patients, taking into consideration certain factors such as socioeconomic status, availability of transport options at onset of symptoms. Data were collected from hospital records, and a questionnaire was administered that included questions about socio-demographics, self-reported risk factors and questions related to hospital arrival. The rate of patients arriving at the hospital more than 3 hours after symptom onset was found to be 31.6% for this study. Approximately 1/3 of patients delayed going to the hospital because they were waiting for symptoms to go away while 1/3 of patients were not aware of the importance of seeking immediate medical help. There was a significant relationship between the use of ambulance transportation and length of time before arrival at the hospitals, though there was no statistically significantly relationship between the existence of stroke risk factors and hospital arrival delay. These results will likely be helpful to health care decision makers as they develop a model for stroke health care and community based training.


Subject(s)
Hospitalization , Stroke/epidemiology , Transportation of Patients/methods , Aged , Ambulances/statistics & numerical data , Female , Hospitalization/trends , Humans , Male , Middle Aged , Patient Acceptance of Health Care/psychology , Stroke/psychology , Stroke/therapy , Surveys and Questionnaires , Time Factors , Transportation of Patients/trends , Turkey/epidemiology
16.
Turk J Pediatr ; 49(3): 283-9, 2007.
Article in English | MEDLINE | ID: mdl-17990582

ABSTRACT

We aimed to assess the prevalence and risk factors of chronic malnutrition in children under five years old in Aydin province, Turkey. A cross-sectional design was used to study a group of 1,400 children. Multistage sampling, including cluster and random sampling, respectively, was used in the selection of the study group. Stunting, wasting and underweight were used as indicators of nutritional status for children. The prevalence of malnutrition in children under five years was found as 10.9% for stunting, 4.8% for underweight and 8.2% for wasted. Increased risk was found in families without social security by 2.071, with low birth weight by 2.516 and with giving no colostrum by 2.787 in stunted children. Improving social security coverage is essential. Mothers should be informed on the usefulness of breast-feeding at antenatal care services during their pregnancies and taught appropriate breast-feeding practices, including the importance of giving colostrum, at baby-friendly institutions after birth.


Subject(s)
Child Nutrition Disorders/epidemiology , Nutritional Status , Social Class , Child Nutrition Disorders/classification , Child, Preschool , Chronic Disease , Cluster Analysis , Cross-Sectional Studies , Family , Female , Humans , Infant , Male , Prevalence , Risk Factors , Turkey/epidemiology
17.
J Cutan Pathol ; 34(3): 257-63, 2007 Mar.
Article in English | MEDLINE | ID: mdl-17302610

ABSTRACT

BACKGROUND: Psoriasis vulgaris is a common chronic inflammatory dermatosis. Disorders in keratinocyte proliferation, differentiation, inflammation and immune dysregulation are the major factors implicated in the pathogenesis of psoriasis vulgaris. METHODS: The study was performed in skin specimens of 25 patients with psoriasis vulgaris and a control group of 10 individuals without a skin disease. Biopsy specimens from lesional and normal skin were analyzed by immunohistochemical method for expressions of Ki-67, Bcl-2, terminal deoxynucleotidyl transferase-mediated dUTP-biotin nick-end labeling (TUNEL), tumor necrosis factor alpha (TNF-alpha) and nuclear factor kappa B (NF-kappaB). In addition, densities of mast cell infiltration were also investigated. RESULTS: Ki-67 and TUNEL indexes and TNF-alpha and NF-kappaB expressions were significantly higher in psoriatic epidermis than in normal epidermis (p < 0.05). There was no significant difference at Bcl-2 reactivity between the normal and the psoriatic epidermis (p > 0.05); however, Bcl-2 staining intensity of lymphocytes was higher in psoriatic lesions than in normal dermis (p < 0.05). Additionally, the number of mast cells was significantly higher in psoriatic dermis than in normal skin (p < 0.05). CONCLUSIONS: There were several complex factors involved in the pathogenesis of psoriasis. We conclude that cellular damage and apoptosis temporarily coincide with epidermal proliferation during the course of psoriatic hyperplasia.


Subject(s)
Apoptosis , Epidermis/pathology , Keratinocytes/pathology , Psoriasis/pathology , Adolescent , Adult , Aged , Biomarkers/metabolism , Cell Count , Cell Proliferation , Epidermis/metabolism , Female , Fluorescent Antibody Technique, Direct , Humans , Immunoenzyme Techniques , In Situ Nick-End Labeling , Keratinocytes/metabolism , Ki-67 Antigen/metabolism , Kinetics , Male , Mast Cells/pathology , Middle Aged , NF-kappa B/metabolism , Proto-Oncogene Proteins c-bcl-2/metabolism , Psoriasis/metabolism , Retrospective Studies , Tumor Necrosis Factor-alpha/metabolism
18.
Med Sci Monit ; 13(1): CR40-3, 2007 Jan.
Article in English | MEDLINE | ID: mdl-17179909

ABSTRACT

BACKGROUND: B. hominis is a protozoan parasite commonly found in the human gastrointestinal tract. The pathogenesis of B. hominis is still controversial, although it is one of the most common parasites found in stool samples. MATERIAL/METHODS: This study was conducted at the Adnan Menderes Medical Faculty between January 2002 and June 2003 to evaluate the relationship between B. hominis and growth status in children in Aydin, Turkey. Healthy children with positive stool samples for B. hominis but negative for other parasites were selected as the case group (n=89). Two controls matched to each case by age and gender were selected by random sampling of children with negative stool samples for any parasite (n=178). RESULTS: The anthropometric measurements and body mass index were significantly lower in the case group than in the control group (p<0.05). CONCLUSIONS: According to this study there is a correlation between the presence of B. hominis and lower anthropometric indexes in children.


Subject(s)
Blastocystis Infections/physiopathology , Blastocystis Infections/parasitology , Blastocystis hominis/pathogenicity , Body Height/physiology , Body Weight/physiology , Adolescent , Animals , Blastocystis hominis/isolation & purification , Case-Control Studies , Child , Humans
19.
Biol Trace Elem Res ; 113(1): 67-75, 2006 Oct.
Article in English | MEDLINE | ID: mdl-17114816

ABSTRACT

Melatonin is the main product of the pineal gland, and trace metals play a critical role in growth and development. The purpose of this study was to assess the serum zinc (Zn) and magnesium (Mg) levels in pinealectomized chicks and their possible interactions with the development of spinal deformity. Chicks were divided into two equal groups: unoperated controls (group M) and pinealectomized chicks (group N). Pinealectomies were performed at the age of 3 d. After 8 wk, serum Zn and Mg levels of 10 animals from each group were measured by spectrophotometric assay. The results of analyses were compared using the Mann-Whitney U-test. The correlation between serum Zn and Mg levels were assessed by Spearman's correlation. In this study, it was obvious that the serum Zn levels in group N were significantly lower than those in group M (2.8 +/- 0.10 vs 4.2 +/- 0.14 ppm; p < 0.0005). In contrast, Mg levels in group N was high compared with the values in group M, although there was no significant difference (17.8 +/- 0.69 vs 15.7 +/- 0.85 ppm; p > 0.05). In pinealectomized animals, serum Zn levels declined significantly while serum Mg levels increased, albeit insignificantly. Thus, there was a moderately positive but not statistically significant correlation between Mg and Zn levels in unoperated controls (r = 0. 273, p > 0.05), whereas there was a negative but not statistically significant correlation between Zn and Mg levels in pinealectomized chicks (r = -0.115, p > 0.05). In addition, the serum Mg to serum Zn ratio was significantly higher in group N than in the group M control (6. 39 +/- 0.32 vs 3.75 +/- 0.22, respectively; p < 0.001). From the results of the current study, it is clear that surgical pinealectomy in newly hatched Hybro Broiler chicks has a significant effect on serum Zn level. However, the serum Mg did not change significantly. Because serum Mg is not a good indicator of Mg status in chicks, it is speculated that other tissues, such as muscle or spine, might productively be explored as a more sensitive Mg biomarker for this model. The present study provides experimental evidence that serum trace metal levels might be affected in pinealectomized animals because of the lack of its main neurohormone melatonin.


Subject(s)
Magnesium/blood , Pineal Gland/physiology , Spine/abnormalities , Zinc/blood , Animals , Animals, Newborn , Chickens , Female , Male , Melatonin/physiology , Scoliosis/etiology
20.
Eur J Radiol ; 60(2): 250-5, 2006 Nov.
Article in English | MEDLINE | ID: mdl-16890393

ABSTRACT

PURPOSE: To determine the prevalence of breast arterial calcifications (BAC) detected on mammography and search for conditions that may influence their existence. MATERIALS AND METHODS: The mammograms of 6156 consecutive patients were reevaluated for the presence of BAC. Four hundred eighty-five women having BAC were enrolled in the patient group. Additionally, randomly selected 500 women, without BAC constituted the control group. Hospital records of the participants were reviewed for parity, menopausal status, oral contraceptive agent (OCA) usage, hormone replacement therapy (HRT) usage, presence of diabetes, hypertension, hyperlipidemia, albuminuria and history of myocardial infarction (MI). RESULTS: Prevalence of BAC was 7.9% on mammograms. Ninety-four women were aged between 40 and 49 years, 165 were aged between 50 and 59 years and 226 were over 60 years among BAC positive 485 women. A significant relationship was found for the frequency of BAC versus age and HRT usage in all age groups (p<0.05). Similarly, significant relationships were also found for the frequency of BAC versus OCA usage, HRT usage, hyperlipidemia and diabetes in age group of 40-49 and in age group of 50-59, and for the frequency of BAC versus albuminuria in age group of 40-49, BAC versus history of myocardial infarction in age group of 59-59 and over 60 years (p<0.05). The correlations were not significant for the relationships of BAC with OCA usage, hyperlipidemia, diabetes and albuminuria in women over 60 years (p>0.05). CONCLUSION: Most benign findings like BAC are not routinely reported during mammographic evaluation. Our study showed that, presence of BAC on mammography was strongly related to advancing age. However, these findings may signify a systemic risk and can be used as precautious indicators for undocumented systemic diseases, especially in premenopausal women.


Subject(s)
Arteriosclerosis/diagnostic imaging , Arteriosclerosis/pathology , Breast Diseases/diagnostic imaging , Breast Diseases/pathology , Calcinosis/diagnostic imaging , Calcinosis/pathology , Mammography , Adult , Age Distribution , Albuminuria/complications , Analysis of Variance , Arteriosclerosis/complications , Arteriosclerosis/epidemiology , Breast Diseases/complications , Breast Diseases/epidemiology , Calcinosis/complications , Calcinosis/epidemiology , Contraceptives, Oral/administration & dosage , Contraceptives, Oral/adverse effects , Cross-Sectional Studies , Diabetes Complications/diagnostic imaging , Female , Hormone Replacement Therapy/adverse effects , Humans , Hyperlipidemias/complications , Hypertension/complications , Middle Aged , Myocardial Infarction/complications , Postmenopause , Premenopause , Prevalence , Risk Factors , Turkey/epidemiology
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