Şükrü Cin

Autonomic nervous system functions in children with breath-holding spells and effects of iron deficiency.

Aim: To analyse the activity of the autonomic nervous system during breath‐holding spells, we assessed the ECG changes, including ventricular repolarization parameters before and during the spell. We also analysed the effects of iron deficiency on these ECG parameters. Methods: The study group consisted of 37 children with breath‐holding spells (30 cyanotic, 7 pallid) (mean age±SD: 12.9±10.8 mo). Twenty‐six healthy children (mean age±SD: 14.4±8.6 mo) served as a control group. All patients and controls had standard 12‐lead simultaneous surface ECG. All patients had ECG recordings during at least one severe breath‐holding spell obtained by “event recorder”. Traces obtained by “event recorder” were analysed in terms of mean heart rate and the frequency and duration of asystole during the spell. Results: Respiratory sinus arrhythmia on standard ECGs and asystole frequency during spells were higher in patients with pallid breath‐holding spells. Patients with iron deficiency had a lower frequency of respiratory sinus arrhythmia and prolonged asystole time during the spell. There was no difference in terms of ventricular repolarization parameters (QT/QTc intervals and QT/QTc dispersions) between patients and controls and between patient subgroups (cyanotic versus pallid).

Premature thelarche in Kabuki make-up syndrome

A 2 year old girl who has Kabuki make‐up syndrome with isolated premature thelarche is presented. She has unique ocular abnormalities which have not been reported previously. In the literature at least 85 patients, most of them from Japan, have been reported. This is the first reported non‐Japanese Asian case.

Hypercoagulability in Children with Thalassemia Major

Objective: We wished to determine the role of various factors causing hypercoagulability in thalassemia patients. Methods: Forty-six homozygous β-thalassemia patients were investigated. Protein C, protein S, and antithrombin (AT) levels were measured and lupus anticoagulants (LA) were screened. D-Dimer and fibrinopeptide A ( FPA) levels were measured to show the activation of the fibrinolytic system. Ten healthy children served as controls. Results: There was a marked decrease in protein C activity in 44.4% and in protein C antigen in 53.8% of the patients. Although no significant differences was noted between the mean values for protein S in the patient and control groups, protein S activity was <60% in 40% of the patients. AT levels were always normal. D-Dimer and FPA levels were increased, indicating the ongoing coagulation activation and fibrinolysis. Three patients had LA; which reflect the expression of phosphatidylserine on the outer surface of the erythrocyte membrane. Conclusions: In thalassemic patients, there is activation of the coagulation and fibrinolytic system which is believed to be secondary to an underlying mechanism. The presence of LA in some patients, probably due to the expression of PS on the outer surface of the erythrocyte membrane, may be the initiating event. Key Words: Thalassemia-Hypercoagulability-Protein C—Protein S—Antithrombin—Antiphospholipid antibodies.

Hereditary multiple exostoses and acute myeloid leukemia: an unusual association.

Hereditary multiple exostoses (HME) is an autosomal dominant disorder characterized by the presence of multiple exostoses. Threegenetic loci have been identified, of which two (EXT1 and EXT2) have tumor suppressor activity. HME greatly increases the risk to develop sarcoma in the dysplastic tissue. The authors report an 8-year-old girl with HME who developed acute myeloblastic leukemia.

Direct detection of Hb C (B6 Glu-Lys) by BseRI analysis

Hemoglobin C (B6 Glu‐Lys) can be identified by different techniques. Here we describe a restriction enzyme digestion protocol (BseRI GAGGAG N10) for direct detection of this variant.

Oral zinc tolerance test in pregnant women

Zinc (Zn) is essential for fetal growth and development, and Zn requirement is increased during pregnancy. The purpose of this study was to determine whether intestinal Zn absorption is increased during pregnancy in order to maintain Zn homeostasis. Oral Zn tolerance test (ZnTT) was performed on 25 healthy pregnant women and 7 healthy non-pregnant female volunteers after the administration of 22.5 mg elemental Zn as sulphate following an overnight fast at a single oral dose. Although the mean baseline plasma Zn level was lower in pregnant women than the controls (P < 0.05), there was no statistically significant difference in Zn absorption as determined by the 2nd- and 3rd-hour plasma Zn levels. The relative dose responses also did not show a significant difference between the pregnant and the control groups. Furthermore, different trimesters and the nutritional status did not have a significant impact on Zn absorption. The results suggest that the lack of a compensatory increase in intestinal Zn absorption in spite of the low Zn status in pregnancy may suggest the intestinal factor as a contributary factor in poor bioavailability. J. Trace Elem. Exp. Med. 14:17–23, 2001.

Facioscapulohumeral muscular dystrophy concentrated in the village Çullar, Nevşhir, Turkey

SummaryIn this paper genetic, clinical, and epidemiological studies on a muscular dystrophy which originated and is concentrated in the village of Çullar, Nevşehir of inland Turkey, are reported. A pedigree chart has been constructed by careful and repeated inquiries, and both clinical and laboratory examinations have generally been carried out in the field. The consideration, facioscapulohumeral muscular dystrophy of Landouzy-Déjérine, has been found to have affected at least 53 individuals, 9 of whom are deceased. Both sexes in six generations are involved as would be expected from a dominant mendelian gene freshly mutated at least 100 years ago. Additionally, some 19 individuals have been described as having the disease or some of its stigmata, but have not been examined by us. Initial signs and symptoms seem to appear early in infancy, though variable, and because of complete dominance, some 75 individuals are at risk. The disease progresses slowly without interfering significantly with survival and reproduction. For prevention the so-called Çullar example measures have been taken to improve the area culturally and socioeconomically.