The association between estimated average glucose levels and fasting plasma glucose levels

OBJECTIVE: The level of hemoglobin A1c (HbA1c), also known as glycated hemoglobin, determines how well a patient's blood glucose level has been controlled over the previous 8-12 weeks. HbA1c levels help patients and doctors understand whether a particular diabetes treatment is working and whether adjustments need to be made to the treatment. Because the HbA1c level is a marker of blood glucose for the previous 120 days, average blood glucose levels can be estimated using HbA1c levels. Our aim in the present study was to investigate the relationship between estimated average glucose levels, as calculated by HbA1c levels, and fasting plasma glucose levels. METHODS: The fasting plasma glucose levels of 3891 diabetic patient samples (1497 male, 2394 female) were obtained from the laboratory information system used for HbA1c testing by the Department of Internal Medicine at the Izmir Bozyaka Training and Research Hospital in Turkey. These samples were selected from patient samples that had hemoglobin levels between 12 and 16 g/dL. The estimated glucose levels were calculated using the following formula: 28.7 x HbA1c - 46.7. Glucose and HbA1c levels were determined using hexokinase and high performance liquid chromatography (HPLC) methods, respectively. RESULTS: A strong positive correlation between fasting plasma glucose levels and estimated average blood glucose levels (r=0.757, p<0.05) was observed. The difference was statistically significant. CONCLUSION: Reporting the estimated average glucose level together with the HbA1c level is believed to assist patients and doctors determine the effectiveness of blood glucose control measures

PEDIATRIC GENETICS

Yenidoğanların yaklaşık %3-10'u bir ya da daha fazla majör fiziksel anomali ile doğmaktadırlar. Pediatri servislerinde yatan hastaların, hastalıklarının yaklaşık %50'sinin etyolojisinde genetik faktörler rol oynamaktadır. Genç erişkinlerde bu oran %5 olarak bildirilmiştir. Bu nedenlerle, temel genetik prensiplerin ve uygulamaların tüm kinisyenler, özellikle de pediatristler tarafından bilinmesi gerekmektedir. One or more major congenital abnormalities are encountered among newborns at a rate of 3-10%. Genetic causes are seen in 50% of the hospitalized pediatric patients. This rate is 5% for young adults. Therefore basic genetics should be well known by clinicians and pediatricians

KABUKI-MAKE-UP SYNDROME: A CASE REPORT

Kabuki make-up sendromu, ilk kez Niikawa ve Kuroki tarafından tanımlanan multiplkonjenital anomaliler, mental retardasyon, karakteristik yüz görünümü, iskelet anormallikleri,eklem laksisitesi, kısa boy, parmak ucu yastıkçıklarının belirginleşmesi veanormal dermatoglifik patern ile karakterize bir durumdur. Japonya\'da daha sık olduğubilinen bu sendrom dünyanın değişik bölgelerinden bildirilmektedir. Unutkanlık, aşırıhareketlilik ve konuşma bozukluğu nedeniyle getirilen olgu, mental retardasyon,davranış ve fonolojik bozukluklara eşlik eden atipik yüz görünümü olan olgularda Kabukimake-up sendromunun da düşünülmesi gerektiğine dikkati çekmek amacıylasunulmuştur.Kabuki make-up syndrome which was first described by Niikawa and Kuroki ischaracterized by multiple congenital anomalies, mental retardation, characteristic facialappearance, skeletal abnormalities, joint laxity, short stature, prominent finger pads andabnormal dermatoglyphic pattern. It is reported in any part of the world but mostly inJapan. Here we report a case with mental retardation, developmental and phonologicproblems associated with atypical facies that was examined for his forgetfulness,hyperactivity and speech delay to attract attention to this diagnosis

Increased circulating macrophage migration inhibitory factor levels are associated with coronary artery disease

BACKGROUND: To evaluate the macrophage migration inhibitory factor and E-selectin levels in patients with acute coronary syndrome. MATERIALS/METHODS: We examined the plasma migration inhibitory factor and E-selectin levels in 87 patients who presented with chest pain at our hospital. The patients were classified into two groups according to their cardiac status. Sixty-five patients had acute myocardial infarction, and 22 patients had non-cardiac chest pain (non-coronary disease). We designated the latter group of patients as the control group. The patients who presented with acute myocardial infarction were further divided into two subgroups: ST-elevated myocardial infarction (n = 30) and non-ST elevated myocardial infarction (n = 35). RESULTS: We found higher plasma migration inhibitory factor levels in both acute myocardial infarction subgroups than in the control group. However, the E-selectin levels were similar between the acute myocardial infarction and control patients. In addition, we did not find a significant difference in the plasma migration inhibitory factor levels between the ST elevated myocardial infarction and NST-elevated myocardial infarction subgroups. DISCUSSION: The circulating concentrations of migration inhibitory factor were significantly increased in acute myocardial infarction patients, whereas the soluble E-selectin levels were similar between acute myocardial infarction patients and control subjects. Our results suggest that migration inhibitory factor may play a role in the atherosclerotic process

The effect of helicobacter pylori eradication on macrophage migration inhibitory factor, c-reactive protein and fetuin-a levels

OBJECTIVES: To determine the effect of Helicobacter pylori (H. pylori) eradication on blood levels of high-sensitivity C-reactive protein (hs-CRP), macrophage migration inhibitory factor and fetuin-A in patients with dyspepsia who are concurrently infected with H. pylori. METHODS: H.pylori infection was diagnosed based on the 14C urea breath test (UBT) and histology. Lansoprazole 30 mg twice daily, amoxicillin 1 g twice daily, and clarithromycin 500 mg twice daily were given to all infected patients for 14 days; 14C UBT was then re-measured. In 30 subjects, migration inhibitory factor, fetuin-A and hs-CRP levels were examined before and after the eradication of H. pylori infection and compared to levels in 30 healthy subjects who tested negative for H. pylori infection. RESULTS: Age and sex distribution were comparable between patients and controls. Migration inhibitory factor and hs-CRP levels were higher, and fetuin-A levels were lower, in H. pylori-infected patients (p<0.05). Following eradication of H. pylori, migration inhibitory factor and hs-CRP levels were significantly decreased, whereas fetuin-A levels were increased. However, eradication of the organism did not change lipid levels (p>0.05). CONCLUSION: These findings suggest that H. pylori eradication reduces the levels of pro-inflammatory cytokines such as migration inhibitory factor and hs-CRP and also results in a significant increase in anti-inflammatory markers such as fetuin-A

PRACTICE OF ALTERNATIVE MEDICINE IN CHILDHOOD BY PARENTS

Amaç: Çağlardan beri değişik kültürlerde yaygın bir şekilde kullanılmakta olan "Alternatif Tedavi Yöntemleri", pek çok ülkede tıp fakültelerinde ders olarak verilmekte ve tıbbi tedaviye ek olarak önerilmektedir. Amerika ve Avrupa ülkelerinden yapılan yayınlarda, erişkinlerde %25-50, çocuklarda %1,8-70 oranında bildirilmektedir. Bu tedavilerin büyük çoğunluğu, etkinlik ve güvenilirlikleri açısından test edilmeden kullanılıyor olmaları nedeniyle sakıncalı olabilmekte, ayrıca bazı durumlarda uygun tedavinin başlanmasını geciktirmektedir. Bu çalışma, ülkemizde de bu konuda politika geliştirmek amacıyla, pediatrik yaş grubunda ailelerin ATY kullanımı sıklığı, ailelerin konu ile ilgili görüşleri ve ATY kullanımını etkileyen bazı değişkenlerin etkisini saptamak üzere planlandı. Gereç ve Yöntem: Çoktan seçmeli, kapalı ve açık uçlu sorulardan oluşan anketlerin, hasta yakınlarına stajyer doktorlarımız tarafından gerekli açıklamalar yapılarak uygulandığı kesitsel, tanımlayıcı bir çalışmadır. Bulgular: Ebeveynlerin, %75,8'i (141 ebeveyn) ATY'yi daha önce bir ya da birkaç kez kullanmış olmalarına karşın, yalnızca %38,2'si (71 ebeveyn) başvuru anındaki yakınma için ATY'den yararlanmıştı. ATY, Ebeveynin yaşı, aldığı eğitim durumu, aylık gelir, sosyal güvence ve yaşanan çevre gibi etkenlerden bağımsız olarak kolay ulaşılabilir olmaları nedeniyle yeğlenmekteydi. Sonuç: Yaygın olarak kullanılan ATY, sıklıkla doğal olmaları nedeniyle güvenli tedavi yöntemleri olarak bilindikleri ve pazarlandıkları için yan etkileri, zararlı etkileri olabileceği göz ardı edilebilmektedir. Bu konuda ailelerin ve hekimlerimizin bilgilenmelerinin sağlanmasının, hem duruma ve zamana uygun ATY seçimi hem de yanlış seçim nedeniyle yaşanan olumsuz etkilerin en aza indirgenmesi açısından yararlı olacağı kanısındayız. Objective: Alternative treatment regimens (alternative medicine) that have been commonly used to treat several diseases for decades, have been included into the medical training programs and suggested as complementary to the conventional treatment. Their use has been reported 25-50% percent of adults and 1,8-70 percent of children in America and Europian Countries. Most of those regimens are being used without being tested for their activity or safety so they may be objectionable and also may cause a delay for appropriate management in some cases. The aim of this study was to collect information about the use of alternative therapy regimen among children, opinions of the parents and the influence of some variables on the choice of alternative therapy regimen with the purpose of developing a policy about this subject. Material and Method: Multiple choice, closed and open ended questionnaire was applied to the parents by intern doctors in this cross-sectional, descriptive study. Results: Although 75,8 percent of the parents have used alternative therapy regimen once or twice before, only 38,2 percent of them have applied to alternative therapy regimen for the current disease. Alternative therapy regimens were preferred independently from the age, educational level, income, social security of the parents and the environmental factors but ease of reach. Herbal teas were the most frequently preferred. Conclusion: Alternative treatment regimens that are commonly used are generally known as safe methods because they are "natural". Both parents and doctors should be educated in the choice of alternative therapy regimen to prevent the undesirable effects

WATSON SYNDROME

Watson sendromu, café-au-lait lekeleri, pulmoner stenoz, mental retardasyon, boy kısalığıile karakterizedir. Bu makalede, moleküler temeli henüz tartışmalı olan ve seyrek görülen bubirlikteliği hatırlatmak amacıyla Watson sendromlu 13 yaşında bir kız olgu sunuldu.Watson syndrome is characterized by café-au-lait spots, pulmonary valvular stenosis,mental retardation and short stature. In this report, we present a thirteen-year-old girl withWatson syndrome to remind this disease which is seldom encountered and the molecularbasis is still controversial

Lack of Association of Childhood Partial Epilepsy with Brain Derived Neurotrophic Factor Gene

Brain-derived factor (BDNF) is a member of neurotrophin family and is localized and upregulated in areas implicated in epileptogenesis. Several lines of evidence make the BDNF gene a plausible candidate gene for predisposition to epilepsy. In this study, we tested that BDNF might be involved in the etiology of childhood PE. To assess whether BDNF gene C270T polimorphism could be implicated in vulnerability to PE, we conducted a case-control association analysis (112 partial epileptic and 100 controls) in Turkish children. Epileptic children were divided into two groups: 1—idiopathic (n=85) and 2—symptomathic epilepsy (n=27). There was no significant difference in genotypic distribution and allelic frequencies of the BDNF gene C270T polimorphism between the PE and control groups. However, the BDNF gene TT genotype was more frequently seen in the epileptic children (15 versus 11 patients, resp.). Interestingly, in the epilepsy group, both two children with TT genotype have posttraumatic epilepsy. The data indicate a possible association with the 270T genotype of the BDNF gene with a posttraumatic epilepsy. To draw any conclusion, further studies using larger sample sizes should be carried out in various ethnic populations in childhood epilepsies

COMPARISON OF APOLIPOPROTEIN E GENE POLYMORPHISM AND PLASMA LIPID AMOUNTS IN OBESE AND DISLIPIDEMIC TURKISH CHILDREN

Amaç: Apolipoprotein E gen polimorfizmi ile lipid metabolizması arasındaki ilişkipopulasyon çalışmalarında ortaya konulmuştur. Obez olan çocuklarda apolipoproteinE gen polimorfizmi ile plazma lipid düzeyleri arasındaki ilişki ve obezite ilebirlikte olan dislipidemilerde apolipoprotein E gen polimorfizmi araştırılmıştır.Yöntemler: İnsülin bağımlı diyabeti, karaciğer ve böbrek yetmezliği bulunmayan,plazma lipid düzeyini etkileyecek ilaç kullanmayan, primer obezitesi bulunan 57 çocukve normal kilolu 18 çocuk olmak üzere toplam 75 çocuğun plazma lipid düzeylerinebakılmış ve apolipoprotein E (Apo E) gen polimorfizmi polimeraz zincir reaksiyonu ileanaliz edilmiştir.Bulgular: Obez çocuklarda Apo AI düzeyleri yüksek saptanmıştır. Obez ve obezolmayan grupta E2/E3 dağılımı sırasıyla %10,5, %27,8; E3/E3 dağılımı sırasıyla %80,7,%61; E3/E4 dağılımı sırasıyla %7, %5,6 olarak bulunmuştur. Obez olan grupta E4/E4fenotipi, obez olmayan grupta E2/E4 fenotipi görülmemiştir. Obez olan grupta E2/E4dağılımı %1,8, obez olmayan grupta E4/E4 fenotip dağılımı %5,6 bulunmuştur. Allelsıklıkları obez ve obez olmayan grupta sırasıyla epsilon 2 (ε2) alleli için %6,1, %14;epsilon3 (ε3) alleli için %89,5, %78; epsilon 4 (ε4) alleli için %4,4, %8 olarak benzerbulunmuştur. Bütün gruplarda en sık allelin ε3 olduğu görülmüştür.Sonuç: Apo E allel ve fenotip dağılımının obez ve sağlıklı çocuklarda benzer olduğugözlenmiştir. Obez çocuklarda total kolesterol, Apo B, Apo AI ortalama düzeyi, obezolmayan çocuklara göre daha yüksek bulunmuş, trigliserid düzeyleri obez olan gruptaobez olmayan gruba göre belirgin yükseklik göstermiştir. Objective: The relationship between Apolipoprotein E (Apo E) gene polymorphismand lipid metabolism was presented by the population studies. The aim of this studywas to search the relationship between Apo E gene polymorphism and plasma lipidlevels in obese children and to search Apo E gene polymorphism in dislipidemiascoexisting with obesity.&nbsp;Methods: Seventy five children (57 were primary obese, 18 were normal weight) wereanalysed by polymerase chain reaction for Apo E gene polymorphism and plasmatriglyceride, HDL, LDL and Apo B amounts were evaluated. Excluding criterias for thestudy group are insulin dependent diabetes mellitus, hepatic and renal failure andmedication because of they might affect the lipid concentration in plasma.Results: The Apo AI levels were significantly elevated in obese children. HDL, LDLand Apo B levels were nearly at the same levels while triglycerides levels were muchhigher in obese group than non-obese group, but the difference was not foundstatistically significant. In obese and non-obese group the E2/E3 distribution was10.5% and 27.8%; E3/E3 was 80.7% and 61% and E3/E4 was 7% and 5.6% respectively.The E4/E4 phenotype was not determined in obese group while the E2/E4 phenotypewas not seen in non-obese group. E2/E4 distribution was 1.8% in obese children andE4/E4 distribution was 5,6% in non-obese children . Allele frequencies in obese andnon-obese children for epsilon 2 (ε2) were found as 6.1% and 14%; for epsilon 3 (ε3)89.5% and 78% and for epsilon 4 (ε4) 48% and 4% respectively. There was no significantdifference between the groups according to allele frequency (p&gt;0.05). The ε3 was foundthe most frequent allele in all the groups.Conclusion: Apo E allele and phenotype distribution were found similar in obese andnon-obese children. The Apo AI levels were significantly elevated in obese children

De Novo PORCN and ZIC2 mutations in a highly consanguineous family

We present a Turkish family with two cousins (OC15 and OC15b) affected with syndromic developmental delay, microcephaly, and trigonocephaly but with some phenotypic traits distinct between them. OC15 showed asymmetrical skeletal defects and syndactyly, while OC15b presented with a more severe microcephaly and semilobal holoprosencephaly. All four progenitors were related and OC15 parents were consanguineous. Whole Exome Sequencing (WES) analysis was performed on patient OC15 as a singleton and on the OC15b trio. Selected variants were validated by Sanger sequencing. We did not identify any shared variant that could be associated with the disease. Instead, each patient presented a de novo heterozygous variant in a different gene. OC15 carried a nonsense mutation (p.Arg95*) in PORCN, which is a gene responsible for Goltz-Gorlin syndrome, while OC15b carried an indel mutation in ZIC2 leading to the substitution of three residues by a proline (p.His404_Ser406delinsPro). Autosomal dominant mutations in ZIC2 have been associated with holoprosencephaly 5. Both variants are absent in the general population and are predicted to be pathogenic. These two de novo heterozygous variants identified in the two patients seem to explain the major phenotypic alterations of each particular case, instead of a homozygous variant that would be expected by the underlying consanguinity