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Jacobsen syndrome (JS), a rare disorder with multiple dysmorphic features, is caused by the terminal deletion of chromosome 11q. Typical features include mild to moderate psychomotor retardation, trigonocephaly, facial dysmorphism, cardiac defects, and thrombocytopenia, though none of these features are invariably present. The estimated occurrence of JS is about 1/100,000 births. The female/male ratio is 2:1. The patient admitted to our clinic at 3.5 years of age with a cardiac murmur and facial anomalies. Facial anomalies included trigonocephaly with bulging forehead, hypertelorism, telecanthus, downward slanting palpebral fissures, and a carp-shaped mouth. The patient also had strabismus. An echocardiogram demonstrated perimembranous aneurysmatic ventricular septal defect and a secundum atrial defect. The patient was <3rd percentile for height and weight and showed some developmental delay. Magnetic resonance imaging (MRI) showed hyperintensive gliotic signal changes in periventricular cerebral white matter, and leukodystrophy was suspected. Chromosomal analysis of the patient showed terminal deletion of chromosome 11. The karyotype was designated 46, XX, del(11) (q24.1). A review of published reports shows that the severity of the observed clinical abnormalities in patients with JS is not clearly correlated with the extent of the deletion. Most of the patients with JS had short stature, and some of them had documented growth hormone deficiency, or central or primary hypothyroidism. In patients with the classical phenotype, the diagnosis is suspected on the basis of clinical findings: intellectual disability, facial dysmorphic features and thrombocytopenia. The diagnosis must be confirmed by cytogenetic analysis. For patients who survive the neonatal period and infancy, the life expectancy remains unknown. In this report, we describe a patient with the clinical features of JS without thrombocytopenia. To our knowledge, this is the first case reported from Turkey.

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OBJECTIVE: To investigate the relation between copeptin, arginine vasopressin (AVP), and nocturnal enuresis (NE). METHODS: Forty-four patients with NE and 44 healthy children aged between 6 and 14 years were enrolled. Patients with nonmonosymptomatic and secondary NE were excluded from the study. A small questionnaire, filled by parents, collected information about sociodemographic characteristics. Blood was obtained for plasma AVP and copeptin concentrations. RESULTS: Copeptin levels were significantly lower in patient group (3.74 ± 1.44 pg/mL) than the control group (16.57 ± 3.91 pg/mL), whereas AVP levels were not significantly different between groups. Copeptin levels were significantly lower in patients (3.17 ± 1.15 pg/mL) who had bed-wetting 2 or more nights a week, which is considered as severe bed-wetting, than the patients (4.95 ± 1.24 pg/mL) who had bed-wetting 1 night or less than 1 night a week. CONCLUSION: This study demonstrates the presence of decreased levels of copeptin in patients with NE compared with healthy patients. AVP levels were not different between groups. To our knowledge, this is the first report assessing the relationship between copeptin and NE.

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BACKGROUND: Iron deficiency (IDA) and beta thalassemia trait (TT) are the most common causes of hypochromia and microcytosis. Many indices have been defined to quickly discriminate these similar entities via parameters obtained from automated blood cell analyzers. However, studies in the pediatric age group are scarce and their results are controversial. METHODS: We calculated eight discrimination indices [Mentzer Index (MI), England and Fraser Index (E&F), Srivastava Index (S), Green and King Index (G&K), Shine and Lal Index (S&L), red blood cell (RBC) count, RBC distribution width, and red blood cell distribution width Index (RDWI)] in 100 patients. We calculated sensitivity (SENS), specificity (SPEC), positive and negative predictive value (PPV and NPV), and Youden's Index (YI) of each discrimination index. RESULTS: None of the discrimination indices showed a SENS and SPEC of 100%. The highest SENS was obtained with S&L (87.1%), while the highest SPEC was obtained with E&F formula (100%). The highest YI value was obtained with E&F formula (58.1%). CONCLUSION: In our study, none of the formulas appears reliable in discriminating between TT and IDA patients. The evaluation of iron status and measurement of hemoglobin A(2) (HbA(2)) remain the most reliable investigations to differentiate between TT and IDA patients.

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Helicobacter pylori (HP) acquired in childhood is an important risk factor for gastric carcinoma. Once colonization is established, infection may be carried for life. The relationship between food intake and HP infection, the presence of metals and phytochemicals closely associated with oxidative stress within everyday diet are important topics to be considered. The possible anti-HP effects of phytochemicals, prooxidant effects exerted in the presence of metal species, intimate relations between some metals and HP, bivalent effects of some metal species in cancer, interactions between metal species and phytochemicals in HP infection are the topics, which require further research. Formulas or diets enriched with phytochemicals and metals against HP and, which are devoid of metals known to favour the growth of HP, may be suggested as the supplements to the classical treatment regimens. The importance of collective consideration of HP, metal species and phytochemicals should be emphasized.

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Lack of specific markers constitutes a problem during diagnosis of headache syndromes. Recently, some metals have gained importance as biological parameters for the diagnosis and during treatment. Low-ionized Mg and high-ionized Ca/Mg in patients with daily migrainous headaches were noted. The blood Na level was shown to increase before and during headache. Headache is also a symptom of the common cold for which zinc may be an effective therapy. The existing relationship between genetic markers of the cluster headache and the efficacy of lithium salts therapy was noted. Headache was also found to be associated with toxic metals. When the health effects of mercury were investigated, the most frequently observed symptom was cephalalgia. Continuous exposure to lead was concomitant with the appearance of symptoms such as headache. In relation to some metabolic links, metals may be introduced as possible biological markers for the diagnosis and during the therapy of different headache syndromes in future clinical trials and laboratory measurements.

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