Murat Celik

Lipoid proteinosis in the eastern Mediterranean region of Turkey

BACKGROUND Lipoid proteinosis (LP), also known as hyalinosis cutis et mucosae or Urbach-Wiethe disease, is a rare autosomal recessive genodermatosis. Hyalin-like material is deposited in multiple organs, including the skin, oral mucosa, larynx, and brain. Only about 300 cases have been reported in the literature so far. Occurrence of LP in siblings is also rare. The reasons for relatively large number of cases, the clinical features of the patients, and the association of LP with other clinical conditions are described in this article. AIMS The aim of this study is to show that LP is not rare in Turkey and consanguineous marriage is still a social problem. METHODS We included patients between the years of 2008-2011 with lesions resembling LP. Based on the findings of clinical and histological examination of all cases, a diagnosis of LP was made. RESULTS We presented six different families with multiple family members suffered from LP. In total, we determined eight children and six adult patients. Three of eight children were from the same family (sisters), the other three children belonged to another family (brothers), two children were from another family (brother and sister), and the adult patients were from three different families. CONCLUSIONS Patients with LP are likely to present first to a dermatologist because of the appearance of their skin; therefore, it is important that the dermatologic diagnosis is not to be missed. We described patients with LP and discuss the salient features of this disease.

Left ventricular dyssynchrony is an early manifestation of heart involvement in sickle cell anemia.

Sickle cell anemia (SCA) is the most common inherited anemia. Although heart involvement in SCA is well‐established, there is no data about changes of contraction synchrony in SCA. Therefore, we aimed to study the left ventricular contraction synchrony in SCA patients with narrow QRS and normal ejection fraction (EF).

Protective effects of caffeic acid phenethyl ester on dose-dependent intoxication of rats with paraquat

Purpose: Paraquat (PQ; 1,1′dimethyl-bipyridilium 4,4′-dichloride), which is used extensively throughout the world, is highly toxic to humans. We aimed to investigate the protective effects of different doses of caffeic acid phenethyl ester (CAPE) on PQ-intoxicated rats. Materials and methods: A total of 80 rats were divided into the following eight groups, comprising 10 rats in each group: group 1: control; group 2: administered with CAPE (10 µmol/kg); group 3: administered with 15 mg/kg PQ (PQ15 group); group 4: administered with 30 mg/kg PQ (PQ30 group); group 5: administered with 45 mg/kg PQ (PQ45 group); group 6: administered with 15 mg/kg PQ + CAPE; group 7: administered with 30 mg/kg PQ + CAPE and group 8: administered with 45 mg/kg PQ + CAPE. Both PQ and CAPE were injected intraperitoneally. Pancreatic tissue was examined with both haematoxylin and eosin and immunochemical staining. Results: The ratio of the immunohistochemical staining area to the total pancreatic area of the β cells revealed that statistically significant differences were observed only between the PQ and PQ + CAPE groups (p < 0.05). Discussion: The evaluation of the data suggests that CAPE can be used to prevent acute effects of PQ intoxication.

The Investigation of Total PSA, Free PSA, and Free/Total PSA Ratio in Patients With Liver Cirrhosis Patients According to Child-Pugh Score

OBJECTIVE To investigate the total prostate-specific antigen (tPSA), free PSA (fPSA), and free/total PSA (fPSA/tPSA) ratio in patients with liver cirrhosis (LC) according to the severity of hepatic insufficiency. METHODS Eighty-two male patients with LC were studied. The severity of liver disease was categorized by Child-Pugh score (Child-Pugh A, B, and C). Forty-two age-matched healthy subjects were used as a control group. The tPSA, fPSA, fPSA/tPSA ratio, total prostate volume (TPV), total testosterone (TT), and total protein (TP) were measured. The LC group was compared with the control group in terms of these parameters. In addition, intra-comparison and inter-comparison was made between all the Child-Pugh groups and normal subjects, in terms of these parameters. RESULTS The tPSA and fPSA levels in LC cases, Child-Pugh A, Child-Pugh B, and Child-Pugh C groups were significantly decreased compared with the control group. The ratio of fPSA/tPSA in the LC subjects and Child-Pugh A groups significantly increased compared with the control group. TT, TP levels, and TPV in patients with LC were significantly lower compared with the control group and the results were significantly correlated with the Child-Pugh score. CONCLUSION The present study reveals that tPSA and fPSA were decreased in patients with LC in comparison to healthy subjects in terms of 3 mechanisms. First, it might be due to shrunken prostatic volume. Second, it also resulted in decreased levels of testosterone because of the abnormality of hypothalamic-pituitary-testicular axis. Third, it might be the diminished serum protein level in the composition of the PSA.

Family functioning and its clinical correlates in overweight and obese patients

ABSTRACTAIM: Our aim is to evaluate the differences in family functioning and anxiety between normal, overweight, and obese subjects. METHOD: Overweight and obese patients were selected from the outpatient clinic of internal medicine department of a university hospital. Patients were classified into three groups as normal weight (N=82), overweight (N=33) and obese (N=50) patients. The normal weight group included healthy subjects. The individuals were examined by the same psychiatrist (MA). Beck Anxiety Inventory and Family Assessment Device were applied to all groups. RESULTS: When compared to normal weight patients, obese and overweight patients had significantly higher anxiety scores and higher scores in general functions, problem solving, communication, roles, affective responsiveness, and behavior control dimensions which reflect increased dysfunctions in their families. The total level of dysfunction that patients experience was predicted by alcohol dependence in the family during childhood period, any medical disorder in the current family, anxiety level and body mass index. CONCLUSION: When treating them clinicians should keep in mind that families of obese and overweight patients may have higher levels of dysfunctions.

A 5-year retrospective evaluation of snakebite cases in Hatay, Turkey.

Snakebites are relatively rare medical emergency cases that might lead to serious consequences. This study aims to evaluate snakebite cases in terms of medical follow-up, antivenom therapy and antivenom reactions. Medical records of patients admitted to emergency department between January 1, 2006 and December 31, 2010 were retrospectively investigated. Snakebite-related cases of a total of 125 patients were included in the scope of the study. Of the total 125 cases, 54.4% were male and 45.6% were female. Most of cases (n: 65, 52%) were aged over 30 years, while the mean age was 34.87 ± 19.29 years. Snakebite-related applications to the emergency department were mostly seen in June with 27 cases. Upon admitting, all patients were recorded to be conscious and showing good general conditions; however, they suffered from pain and edema at the site of bite. Of all, 25 patients only suffered from bite injury and ecchymosis due to snakebite. The site of bite was upper extremities in 66 patients (52.8%), whereas it was lower extremities in 58 (46.4%). Of all, antivenom was unnecessary in 25 (20%) patients, while four antivenoms were administered to each of the 23 (18.4%) patients. Furthermore, six (4.8%) patients needed nine antivenom administrations for each. Anaphylaxis (n: 2, 1.6%), compartment syndrome (n: 2, 1.6%) and serum sickness (n: 1, 0.8%) encountered in remaining cases. Of all, 86 (68.8%) patients were hospitalized in the emergency department, while 25 (20.0%) patients were followed up by observation in emergency service. Only one patient was treated and followed up in intensive care unit. Implementation of antivenom therapy is considered unnecessary for the treatment of all snakebite cases. Antivenom reactions and number of related cases might be reduced by continuous close monitoring, appropriate prophylaxis and controlled slow infusion administration of medications.

First report from Turkey of a rare frameshift mutation [codons 9/10 (+T)] in the beta-globin gene.

Beta-thalassemia (β-thal) is one of the most common autosomal recessive single gene disorders worldwide [1]. At least 200 different mutations in the β-globin gene that result in the β-thal minor and major phenotypes have been described [2,3]. The incidence of β-thal is high in Mediterranean regions, Iran, India, The Arabian Peninsula, Southeast Asia, and Turkey [4]. β-thal is characterized by point mutations, small deletions, or insertions that result in a decrease in or lack of expression of the β-globin chain, and each ethnic group or population has its own set of common mutations. In Turkey β-thal is common and 12 mutations accounted for 83.3% of 1500 unrelated cases with homozygous β-thal [5]; the remaining mutations were rare or newly identified. To date, at least 39 nucleotide insertions in 3 exons of the β-globin gene that result in a modified C-terminal sequence of the β-globin protein have been reported (http://globin.bx.psu.edu/cgi-bin/ hbvar/query_vars3). Codon 9/10 (+T) insertion mutation was first described in a Greek family by Wave et al. in 1994 [6], followed by the report of an Iranian patient of Kurdish origin by Rahimi et al [7]. Herein we present a 30-year-old Arab male with the β-thal trait living in Hatay, Turkey that had β-globin gene codon 9/10 (+T) frameshift mutation, which was noted during premarital genetic screening. To the best of our knowledge this is the first case reported from Turkey and only the third case worldwide. In our laboratory where molecular testing for the premarital screening of thalassemia mutations are routinely performed, we encountered a case of a 30 year-old male meeting the diagnostic criteria of β-thal trait. After written informed consent, the patient accepted to undergo mutation analysis and laboratory tests. Genetic analysis showed a frameshift mutationan insertion of T between codons 9 and 10 in the first exon of the β-globin gene. Hematological data

M694V and E148Q Mutations as Potential Molecular Markers for the Diagnosis of Familial Mediterranean Fever among Patients in the East Mediterranean Region of Turkey

Abstract The purpose of the present study was to estimate frequency of M694V and E148Q mutations in the Mediterranean Fever (MEFV) gene among different families living in the East Mediterranean region of Turkey. A total of 78 members from 19 families, who had the Familial Mediterranean Fever (FMF) disease as diagnosed in clinics, and a control group consisting of 100 members were examined in this work. The member who was clinically diagnosed with FMF gene had attracted the researchers’ focus to take blood examples from the entire family members. The M694V and E148Q are point mutations located in different exons of the affected gene. It is employed PCR method with specific oligonucleotides primers pair to detect mutations in the populations. The gel electrophoresis procedure was used to visualize the presence of point mutations in FMF and control group. The M694V mutation turned to be present in 75 out of 78 members (96%) of 19 FMF-diagnosed families. Among 100 members of the control group, in 26 members 26% carried the M694V. The E148Q mutation was observed in 28 members (35.89%) of the FMF group and 8 members (8%) of the control group. To the extent of the researchers’ knowledge, this is to study target E148Q mutation for FMF gene in Turkey, so this research assumed to have crucial importance in clinics to diagnose FMF gene.

Evaluation of Physical Examination Findings in Acute Abdominal Patients Who Apply to Emergency Service

The aim of the present study is to measure the concentration of fucose and TP in sera and erythrocytes for minor and major thalassemic patients according to blood groups and compared those to healthy individuals. Total fucose, total protein and TF/TP ratio were determined in sera and RBCs according to their blood type groups for 40 control, (40 T minor) and (45 T major). No significant differences were found in TP in sera and RBCs of T minor, T major and controls considering each blood type group. A significant increase in TF level in sera of T major compared to TF for T minor and TF for control, also a significant increase in TF for T major compared to T minor. The RBCs of T major contain the highest level of TF followed by TF in RBCs for T minor compared to that in RBCs for control. Yet no significant difference in blood types groups for T minor patients was found. On the other hand high levels of TF in RBCs of type O blood group in T major was noticed compared to TF in RBCs of group A, B and AB. A significant increase in TF/TP in the sera of T major compared to the ratio in T minor and controls was noticed. The ratio of TF/TP in T major was significantly higher than that for T minor and controls.