Browsing by Author "Ceylaner, S."

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Asymmetric Crying Facies Associated With Hemihypertrophy: Report of One Case
(2003) Çaksen, H.; Patiroǧlu, T.; Çiftçi, A.; Çikrikçi, V.; Ceylaner, S.
An infant whose face appears symmetrical at rest yet whose mouth is pulled downward to one side when crying is said to have an "asymmetric crying facies". The cause of the facial asymmetry in this disorder is congenital absence or hypoplasia of the depressor anguli oris muscle at the corner of the mouth. Associations of this minor facial defect with major congenital anomalies have been reported, most commonly in the cardiovascular system and less frequently involving the genitourinary, musculoskeletal, cervicofacial, respiratory, and, rarely, the central nervous system. In this article, a 40-day-old boy with asymmetric crying facies associated with malformed right ear, patent foramen ovale, hemivertebrae, thoracic scoliosis, and hemihypertrophy is presented. The last anomaly has not previously been published in association with asymmetric crying facies in the literature according to our knowledge.
Difficulties in Diagnosing Fabry Disease in Patients With Unexplained Left Ventricular Hypertrophy (Lvh): Is the Novel Gla Gene Mutation a Pathogenic Mutation or Polymorphism
(Sciendo, 2023) Aladag, N.; Barman, H. Ali; Sipal, A.; Akbulut, T.; Ozdemir, M.; Ceylaner, S.
Fabry disease (FD) is an X-linked, lysosomal glycosphingolipid storage disorder that occurs very rarely. Cardiac involvement may comprise of left ventricular hypertrophy (LVH), arrhythmias, conduction abnormalities, heart failure and valvular abnormalities. The goal of this study was to conduct gene analysis for FD in patients suffering from unexplained LVH. 120 patients over the age of 30 who were diagnosed by echocardiography with idiopathic LVH were included in the study. Patients with severe hypertension, intermediate valve disease such as moderate aortic stenosis, known FD, and a family history of autosomal dominant hypertrophic cardiomyopathy were excluded from the study. GLA gene mutations were studied by Sanger sequence analysis in all patients. Of the 120 total patients included in this study, 69 were female (58%) and 51 were male (42%). The mean age was 60.3 & PLUSMN; 15.7. GLA gene mutations were detected in three male patients. The detected mutations are as follows: NM_000169.2:IVS6-10G>A (c.1000-10G>A), NM_000169.2:c.937G>T (p.D313Y) (p.Asp313Tyr) and NM_000169.2:c.941A>T (p.K314M) (p.Lys314Met). Early diagnosis is of vital importance in FD, which can be treated with enzyme replacement. Genetic screening in patients diagnosed with idiopathic LVH by echocardiography is important in the early diagnosis and treatment of FD. Patients over 30 years of age with idiopathic LVH should be screened for FD. Various new polymorphisms can be detected in genetic screening. Identifying new polymorphisms is important for knowing the true mutations in FD.