Ilhan Sezgin

Prevalence of known mutations in the MEFV gene in a population screening with high rate of carriers

The Familial Mediterranean Fever (FMF) shows an autosomal recessive pattern of inheritance and affects certain ethnic groups. Disease is caused by mutations in MEFV gene and more than 180 mutations have been defined in affected individuals. Current study aimed to determine the frequency-type of the mutations for MEFV gene in Sivas—middle Anatolian city. The cohort was composed of 3340 patients. MEFV gene mutations were studied by multiplex PCR based reverse hybridization stripAssay method. Patients’ clinical features were; family history: 68%, erysipelas-like erythema: 17.6%, fever: 89.9%, abdominal pain: 84.2%, peritonitis: 90.2%, arthritis: 33%, pleuritis: 14.2%, parental consanguinity: 21.2%. Current results revealed that M694V is the most frequent mutation (43.12%), followed by E148Q (20.18), M680I(G/C) (15.00%) and V726A (11.32%). The study population has a high rate of carriers and the E148Q mutation frequency was found to be highest when compared to the other regions of Turkey and other Mediterranean groups.

The Role of the CCR2 Gene Polymorphism in Abdominal Aortic Aneurysms

Objective: Chronic inflammation play an important role on abdominal aortic aneurysms (AAA) formation. Chemokine receptor-2 (CCR2) is involved in regulation of the inflammatory response. However, relation between CCR2 polymorphism and AAA formation in human has not yet been investigated. In this study, we aimed to investigate the relationship between AAA and CCR2-V64I gene polymorphism. Methods: In this study, 100 consecutive patients with AAA and 138 individuals with normal aortic diameter were included. CCR2-V64I gene polymorphism were analyzed by PCR-RFLP technique. Genotype distribution and allele frequencies of CCR2-V64I gene polymorphism in patients with AAA and healthy subjects were compared. Results: CCR2 heterozygote V64I polymorphism and allele frequency were more frequently observed in the AAA group (p = 0.01, p = 0.004). Significant relationship was observed between CCR2 V64I polymorphism (OR:2.31, 95% CI:1.19-4.46, p = 0.01) and presence of AAA in multivariate regression analysis. Conclusion: The present study, showed us a relationship between CCR2-V64I polymorphism and AAA.

Dental findings in Cornelia de Lange syndrome.

Cornelia de Lange syndrome is a congenital disease, basically characterized by psychomotor retardation associated with a series of malformations, including mainly skeletal, craniofacial deformities together with gastrointestinal and cardiac malformations. There is no definitive biochemical or chromosomal marker for the prenatal diagnosis of this syndrome. We actually want to present the case of a 10-year-old patient, who was admitted to our clinic for dental pain. The patient had the symptoms of Cornelia de Lange syndrome. During the oral examination of this patient, the patient was found to have the typical symptoms of Cornelia de Lange syndrome, such as micrognathia and delayed eruption in conjunction with the symptoms of the Hutchinsons syndrome, which had never been reported before.

Recombinant chromosome with partial 14 q trisomy due to maternal pericentric inversion

Background14q duplications caused by parental pericentric inversion of chromosome 14 are rarely reported and no clear genotype-phenotype correlation has been determined yet.Case PresentationHere we reported a 7 years old female patient with recombinant chromosome characterized by 14 q duplication and originated from maternal pericentric inversion of chromosome 14. Principal clinical findings of the child include developmental delay, microcephaly, hypertelorism, low set ears, clinodactyly of fifth fingers, hypotonia, telecanthus and cardiac malformation.ConclusionsHer final karyotype was 46,XX,rec(14)dup(14q)inv(14)(p11.2q24)mat,arr14q24.1-qter(64,800,000-108,350,000 bp)x3.

A new syndrome with cardiac malformation, cleft lip-palate, microcephaly and digital anomalies ?

A family with cardiac malformation, cleft lip‐palate, short stature, microcephaly, distally placed thumbs, short 2nd and 5th fingers, long and broad 1st toes, broad distance between 1st and 2nd toes and mediodorsal curvature of the 4th toes with syndactyly of the 2nd and 3rd toes has been described as having a new syndrome. While some members of the family had full signs of the syndrome, others had similar but fewer and less severe anomalies of the same structures. The presence of common findings in three generations, its variable expressivity and pleiotropism, and the non‐consanguineous history in the parents suggest that the inheritance is autosomal dominant.

VATER asosiasyonu: Bir olgu sunumu

Ozet VATER asosiasyonu (V: Vertebral anomali, VSD ve diger kardiyak defektler; A: Anal atrezi veya fistul; T-E: Trakeaozefagial fistul ile ozefagus atrezisi; R: Radial displazi, basparmak veya radial hipoplazi, preaksial polidaktili, sindaktili, renal anomali) cesitli anomaliler ile karekterize olan bir konjenital bozukluktur. Sunulan olguda opere ozefagus atrezisi ve trakeaozefagial fistul, opere vestibuler anus ve anal atrezi, sol el basparmak yoklugu, sol el 5.parmakta klinodaktili, pektus carinatus, skolyoz, dolikosefali, kisa boyun, basik ve genis burun koku, kepce kulak, sakral dimple bulunan 4 yasinda bir kiz cocugu tanimlanmistir. Anahtar sozcukler: VATER asosiasyonu, konjenital asosiasyon, vestibuler anus, anal atrezi Absract VATER association, (V: Vertebral anomaly, VSD and other cardiac defects; A: Anal atresia or fistula; T-E: Tracheoesophageal fistula with esofageal atresia; R: Radial dysplasia, thumb or radial hypoplasia, preaxial polidactyly, syndactyly, renal anomaly) is a relatively rare pattern of multiple congenital abnormalities. In this case, a 4-year-old female child with tracheoesophageal fistula with esophageal atresia, vestibuler anus and anal atresia, left thumb agenesis and clinodactyly in left hand fifth finger, pectus carinatus, scoliosis, short neck, broad and depressed nose, prominent ear and sacral dimple is described. Keywords: VATER association, congenital association, vestibuler anus, anal atresia

Adams Oliver sendromlu bir yenidoğan: Bir olgu sunumu ve literatür değerlendirmesi

Adams Oliver syndrome was first described by Adams and Oliver in 1945. It is a syndrome characterized by aplasia cutis congenita and terminal transverse limb defects of variable severity. A one-day-old female neonate was admitted to the neonatal intensive care unit with aplasia cutis congenita and limb defects. The diagnosis of Adams Oliver syndrome was based on the typical disease features, together with typical appearances on radiography. In this case report, we present a case diagnosed with Adams Oliver syndrome and we also discuss the clinical findings of patients with Adams Oliver syndrome reported in the literature.

Yenidoğan Döneminde Hematolojik Bulgularla Ortaya Çıkan Bir Fanconi Anemisi Olgusu

Familial hemophagocytic lymphohistiocytosis was diagnosed in a three and a half month old infant with anemia hepatosplenomegaly and intractable fever Three siblings had died due to unknown causes The diagnosis was verified with autopsy Clinical and laboratory findings of the case are discussed in the light of literature Key words: Familial Hemophagocytic Lymphohistiocytosis

Bir Aglossi Adaktili Sendromu Olgusu Anal Darlıkla Birlikte

The syndrome of aglossia adactylia is an uncommon syndrome characterized by micrognathia hypoglossia or aglossia and absence of one or more of the extremities The patient was admitted with the complaints of lack of right hand and distal left leg below the knee In addition to these findings physical examination revealed mild micrognathia and hypoglossia large and low set ears telecantus high palate and anal stenosis Anal atresia is uncommon with this syndrome for that reason we have presented this case of Hanhart s syndrome with anal stenosis Key words: Aglossia Adactylia