Aziz Polat

Premarital Screening of Beta-Thalassemia Trait in the Province of Denizli, Turkey

A premarital screening program aiming at reducing the incidence of thalassemia major was started under the auspices of the Regional Health Administration in 1995 in the city of Denizli in the Aegean region of Turkey. In this report we assessed the 4-year results of the screening program. All couples who applied for marriage procedures were screened for β-thalassemia trait by automatic red cell indices and Hb A2 determination. The couples at risk were counseled and offered prenatal diagnosis and termination of pregnancy in case of an affected fetus. From October 1995 to August 1999, a total of 19,804 subjects (9,902 couples) were recruited for this study. The prevalence of β-thalassemia trait with increased Hb A2 was found to be 2.6% (514/19,804). In addition to the thalassemia trait, 22 patients (0.11%) had sickle trait. In 15 of the 9,902 couples, both partners were found to be carriers of the β-thalassemia trait. After genetic counseling, 2 of the 15 planned carrier marriages were canceled. Seven couples declared that they do not want to have a child at present. Prenatal diagnosis was sought by 6 couples. One fetus was found to be normal, 4 had thalassemia minor and 1 had thalassemia major; this pregnancy was terminated by elective abortion. This study indicated that premarital screening is a very useful tool for detecting carrier couples and an effective way of controlling thalassemia major.

Serum Vitamin B12 and Folate Concentrations and the Effect of the Mediterranean Diet on Vulnerable Populations

Low vitamin B12 and folate levels in expectant mothers may lead to low stores in babies. The aim of this study was to determine the frequencies of vitamin B12 and folate deficiencies in pregnant women and neonates, and to assess the effect of maternal vitamin status on babies’ vitamin levels in the Aegean region of Turkey, where the Mediterranean diet (mainly fresh fruits and vegetables) is adopted. We studied 72 pregnant women and their singleton-term babies. Venous blood samples of expectant mothers were collected 1 h before delivery and cord blood of babies were obtained at birth. The mean vitamin B12 in maternal and cord blood serum was 163.1 ± 72.0 pg/mL and 146.2 ± 102.5 pg/mL, and the mean folate, 9.8 ± 4.8 ng/mL and 15.8 ± 3.8 ng/mL, respectively. There were statistically significant correlation between maternal and cord blood serum vitamin B12 (r = 0.61, P = .04) and folate levels (r = 0.65, P < .001). 70.8% of the mothers and 83.9% of the babies were vitamin B12 deficient (<200 pg/mL). Neither group showed folate deficiency. The mean level of vitamin B12 in mothers significantly varied by the type of diet (241.6 (72.1) pg/mL versus 155.9 (68.2) pg/mL; P = .012). Vitamin B12 deficiency in pregnant women and neonates may be a public health problem in our community. The Mediterranean diet in these vulnerable groups may be an aggravating factor for vitamin B12 deficiency. Prenatal screening of all expectant mothers, prenatal supplementation of vitamin B12, and an increase in animal-source food intake may improve expectant mothers vitamin B12 level.

Adipocytokine concentrations in children with different types of beta-thalassemia.

Abstract Background. Beta-thalassemia is an inherited blood disorder. It results from the impaired production of β-globin chains, leading to a relative excess of alpha-globin chains. Clinical severity separates this disease into three main subtypes: β- thalassemia major, β-thalassemia intermedia and β-thalassemia minor, the former two being clinically more significant. Inflammatory processes may play an important role in some of the complications of thalassemia. Adipose tissue is one of the most important endocrine and secretory organs that release adipocytokines like adiponectin, resistin and visfatin. Aim. The aim of our study was to analyze adipocytokine concentrations (adiponectin, resistin and visfatin) in different types of β-thalassemia patients and determine any possible correlations with disease severity. Methods. We recruited 29 patients who were transfusion-dependent β-thalassemia-major patients, 17 patients with β-thalassemia intermedia, 30 β-thalassemia minor patients. The control group consisted of 30 healthy children. Anthropometric measurements, complete blood count, biochemical parameters, serum concentrations of adiponectin, resistin, visfatin were performed for all subjects. Results. Resistin and visfatin concentrations were significantly higher in β-thalassemia minor patients than in controls. Adiponectin, resistin and visfatin concentrations were significantly higher in both β-thalassemia intermedia and major patients than in controls. The concentrations of adiponectin, resistin and visfatin were significantly higher in both β-thalassemia intermedia and major patients than in β-thalassemia minor patients. There was no significant difference between β-thalassemia intermedia and β-thalassemia major patients for adipocytokines concentrations. Conclusion. We speculate that these adipocytokines may play a role in the development of complications in β-thalassaemia.

Dandy-Walker's Variant and Tetralogy of Fallot with Atrial Septal Defect and Patent Ductus Arteriosus and Primary Hypothyroidy - A New Association

An 11-month-old girl who has Dandy-Walker’s variant (DWV) associated with tetralogy of Fallot (TOF), atrial septal defect (ASD), patent ductus arteriosus (PDA), and primary hypothyroidy is presented. There has been no report describing a case of DWV associated with TOF, ASD and PDA and primary hypothyroidy. The first case of Dandy-Walker malformation associated with TOF was reported by Kohyama et al in 1988, since then, a few cases were reported in the literature. Our patient is the first reported case.

Conjunctival melanoma in a six-year-old female.

Conjunctival melanoma (CM) is a highly malignant tumor that derives from melanocytes and is rarely seen in children. This report describes a 6‐year‐old female diagnosed with CM. Pediatr Blood Cancer 2008;50:384–386.

A CASE OF SYMPTOMATIC IDIOPATHIC THROMBOCYTOPENIC PURPURA DURING MUMPS

Idiopathic (immune) thrombocytopenic purpura (ITP) is a disease characterized by immune platelet destruction, and it generally limits itself. It is the most common cause of acquired thrombocytopenia in children. ITP displays thrombocytopenia, shortening of platelet survival, presence of antiplatelet antibody in the plasma, and an increase in the number of mature and immature megakaryocytes in the bone marrow. Antibodies produced against platelet antigens are attached to platelets and they are removed from circulation by RES. The disease is acute in 85–90% of cases in children and there is a viral infection history 1–4 weeks before the appearence of the symptoms in 50–65% of cases. Many viruses, such as EBV, CMV, varicella, rubella, rubeola, mumps, parvovirus, HIV, and even vaccination, are considered in the etiology [1, 2]. Mumps is a systemic viral infection characterized with one or more salivary glands with painful swelling, especially the parotid glands. It is still an endemic disease in our country because the vaccination is not routine. Thrombocytopenia is a rare complication of mumps and generally asymptomatic and reversible [3]. In this paper, a case that displays symptomatic ITP during mumps infection is presented.

Familial mutation in caffey disease with reduced penetrance: a case report

Caffey disease is a rare condition of early infancy, characterized by soft tissue swelling, bone lesions, and hyperirritability. Its typical radiological finding is periosteal new bone formation. It can be sporadic or inherited in an autosomal dominant manner. There is no specific treatment. In symptomatic cases, non-steroidal anti-inflammatory drugs such as ibuprofen, indomethacin, or naproxen can be used. This is a report of an infant who presented with restlessness, irritability, and swelling over his shins, diagnosed as Caffey disease. Although there was no family history, the genetic analysis revealed heterozygous missense mutation (c.3040C > T) in type-I-collagen-alpha-1-chain gene in the patient in addition to his mother, grandmother, aunt, and cousin. After indomethacin therapy, the complaints of the patient were completely resolved and his bone lesions were significantly improved. This case report is a familial form of Caffey disease from Turkey, with proven heterozygous mutation in the patient and the family members.

Retinal nerve fiber layer thickness and retinal vessel calibers in children with thalassemia minor

Objectives: Evaluation of the peripapillary retinal nerve fiber layer thickness, subfoveal choroidal thickness, and retinal vessel caliber measurements in children with thalassemia minor. Methods: In this cross-sectional and comparative study, 30 thalassemia minor patients and 36 controls were included. Heidelberg spectral domain optical coherence tomography was used for peripapillary retinal nerve fiber layer thickness, subfoveal choroidal thickness, and retinal vessel caliber measurements. Results: There was no statistically significant difference in retinal nerve fiber layer thickness and subfoveal choroidal thickness between the two groups (p > 0.05). There was no correlation between retinal nerve fiber layer thickness and hemoglobin values. Both the arterioral and venular calibers were higher in thalassemia minor group (p < 0.05). Conclusion: There is increased retinal arterioral and venular calibers in children with thalassemia minor compared with controls.

Response to parenteral iron therapy distinguish unexplained refractory iron deficiency anemia from iron-refractory iron deficiency anemia.

We evaluated that response to parenteral iron therapy could be helpful in distinguishing the types of iron deficiency anemia.

Perioperative management of tonsilloadenoidectomy and circumcision of a patient with Bernard-Soulier syndrome: case report.

Bernard–Soulier syndrome is an autosomal recessive coagulopathy characterized by thrombocytopenia, prolonged bleeding time and large platelets. Because of the rarity of this disease, standard perioperative treatment protocols have not been developed and there are not enough available data for the management of surgical procedures. In this case, we successfully performed adenoidectomy and tonsillectomy and circumcision surgery concurrently under the preventive and intermittent transfusion of platelets. During hospitalization, no intraoperative or postoperative bleeding complications occurred.