Analysis of ELOVL4 and PRPH2 genes in Turkish Stargardt disease patients.

Stargardt disease (STGD) is an inherited genetic eye condition involving bilateral macular dystrophy leading to progressive central vision loss. It is the most common form of autosomal recessive juvenile macular dystrophy. In this study, ELOVL4 and PRPH2 genes were analyzed in 30 STGD probands for genetic variations using next-generation sequencing. In the patient group, two genetic variants in exon 6 of ELOVL4, and three in exon 3 of PRPH2 were detected. All sequence modifications in both ELOVL4 and PRPH2 were recorded, including those of a non-pathogenic nature. In the control group, four different genetic variations were detected in ELOVL4, and five in PRPH2. STGD patients of different ethnicities may carry distinct ELOVL4 and PRPH2 sequence variants. We believe that the genetic variations identified in this study may be related to STGD etiopathogenesis.

Unusual intraocular foreign bodies after an explosion: patient's hand bone fragments.

A 26-year-old Turkish Army soldier underwent full ophthalmoscopic examination after a penetrating ocular injury in the left eye due to the accidental explosion of a detonating fuse during handling. Visual acuity of the left eye was hand motion level. Funduscopy revealed foreign bodies suspended in the vitreous gel and accompanying vitreous haemorrhage. B-scan ultrasonography, CT of the orbits and microscopic examination of the intraocular foreign bodies (IOFBs) were performed prior to removal of bone fragments and pars plana vitrectomy. The IOFBs were fragments of the patients' bone tissue. Bone fragments from victim's body may cause IOFBs after an explosion in military personnel.

[Poland-Möbius syndrome associated with lacrimal punctal and canalicular agenesis]. / Syndrome de Poland-Möbius associé à une agénésie des points et des canalicules lacrymaux.

We report the case of a 21-year-old patient who presented with epiphora in the left eye and a bilateral ocular motility problem. The clinical examination revealed bilateral moderate abduction limitation (impairment of the VIth cranial nerve), facial diplegia with amimic face (impairment of the VIIth cranial nerve), punctal agenesis of the left eye, absence of the left pectoralis major muscle, left breast aplasia, and hypoplasia of the left upper limb and hand. Neither the lacrimal puncta nor the canaliculi could be found during surgical exploration of left lacrimal system using operating microscope. Based on these findings, the patient was diagnosed with Poland-Möbius syndrome associated with punctal and canalicular agenesis. Poland-Möbius syndrome is a rare entity characterized by the association of two different syndromes: Poland syndrome and Möbius syndrome. Several abnormalities in association with this syndrome have been published. However, punctal and canalicular agenesis is not among these reported abnormalities.

Traumatic lingual ulcer in a child: Riga-Fede disease.

Riga-Fede disease RFD is an extremely rare, benign inflammatory disorder characterized by reactive, traumatic ulceration of the oral mucosa especially located on the tongue. It is most commonly associated with natal or neonatal teeth in newborns. Mucosal lesions are often caused by repetitive traumatic damage due to backward and forward motions of the tongue over the lower incisors. Failure to diagnose and treat these lesions properly may result in inadequate food intake, growth retardation and permanent lingual deformity. We report a 15-month-old healthy infant with tongue ulcer diagnosed as RFD based on history and clinical features.

Near-infrared and short-wavelength autofluorescence imaging in central serous chorioretinopathy.

AIMS: The aim of the study was to compare the results of short-wavelength (SW) and near-infrared (NIR) autofluorescence (AF) in acute central serous chorioretinopathy (CSC). METHODS: Twenty-six eyes of the 26 patients diagnosed with CSC (mean age 37.4 years) were included in this retrospective study. AF images were evaluated and compared with angiographic and ophthalmoscopic findings. Fluorescein angiography and AF imaging were performed using a confocal scanning laser ophthalmoscope. RESULTS: Focally decreased AF at the leakage site was seen in most of the cases with acute CSC (20 of 26 eyes in SW-AF; 20 of 20 eyes in NIR-AF). Twenty-four of the 26 cases had decreased SW-AF corresponding to the area of the serous retinal detachment, while 19 of the available 20 cases had decreased NIR-AF corresponding to the area of the serous retinal detachment. Increased granular AF corresponding to the extent of the former retinal detachment was seen earlier with SW-AF imaging, but disappeared later in the course of disease with NIR-AF imaging. CONCLUSIONS: AF imaging in CSC demonstrates different patterns according to the course of the disease, reflecting RPE and outer retinal changes. Combining two different methods of AF imaging could predict recent or former CSC episodes and may be a non-invasive technique for monitoring CSC and performing differential diagnosis.

Excitation-time-dependent increment in the luminescence of fundus autofluorescence.

AIM: To investigate the excitation-time-dependent increment in luminescence of fundus autofluorescence. METHODS: Fundus autofluorescence (FAF) images were obtained with a confocal scanning laser ophthalmoscope. Consecutive 60 images of each eye were taken at 1 s time intervals immediately after the beginning of argon laser excitation. Twenty-one eyes of 21 normal subjects were enrolled in the study. To analyse the luminescence of fundus autofluorescence, an 80 x 80 pixel square selection was placed in a relatively avascular fundus area of each consecutive image. Individual grey-scale values of the selected areas were recorded, and the time slope was plotted. RESULTS: The time-dependent increment of the autofluorescence was observed in all subjects. The average luminosity value of subjects at the beginning was calculated as 32.5 mean grey value (MGV), and luminosity reached its maximum (45.4 MGV) between 25 and 30 s. CONCLUSION: The excitation-time-dependent increment in FAF luminosity should be taken into account while acquiring FAF images for quantitative, comparative and longitudinal studies.

Protective effect of N-acetylcysteine, caffeic acid and vitamin E on doxorubicin hepatotoxicity.

The aim of this study was to compare the possible protective effects of N-acetylcysteine (NAC), caffeic acid (CAPE) and vitamin E (Vit-E) on doxorubicin-induced hepatotoxicity. Thirty-two male Wistar albino rats, weighing between 250 and 350 g were supplied and randomly divided into five groups. Animals in study groups were pretreated with a single dose of doxorubicin (Dox), which was administered intraperitoneally (i.p.). Control group (Group I) was treated with intraperitoneal saline injection. Group II did not received any antioxidant agent after the injection. Group III and Group IV were given CAPE and intraperitoneal vitamin E injection for eight days, respectively. Group V received NAC for eight days. The study was finished after 10 days. Tissue samples were collected from all animals and histopathological examination was performed. There was statistically significant difference between the experiment groups and controls by means of mononuclear cell infiltration and diameters of hepatic sinusoid, terminal hepatic venule (central vein) and portal area (portal canal). Changes related with hepatocellular damage were more prominent, whereas there was no significant difference between Dox and NAC given groups histopathologically. It was observed that structural changes were regressed after CAPE administration. However, this recovery was more prominent in vitamin E given group. These findings suggest that Dox induced liver damage could be efficiently reversed by vitamin E administration. It has been found that CAPE, but not NAC has protective effects on Dox-induced hepatocellular damage.

Iodine deficiency and goiter prevalence in Turkey after mandatory iodization.

OBJECTIVE: The determination of (a) iodine deficiency, and (b) the relation between the iodized salt consumption in the Isparta province of Turkey. METHODS: Five hundred students between 6-11 yr of age were evaluated. With a questionnaire, the subjects were asked whether they were using iodine-containing salt or not. After their body weight and height were measured, thyroid glands were examined with palpation, thyroid volumes were determined with ultrasonography (USG), and urinary iodine concentration was analyzed. RESULTS: The median urinary iodine concentration (UIC) of children was 7.00 microg/dl. This value reveals that Isparta is a region with mild iodine deficiency. The total goiter prevalence was 30.4% with palpation and 26% with USG. The goiter prevalence by ultrasonography was 14.2% for the urban and 36.2% for the rural areas. This difference was statistically significant (p<0.05). The rate of total iodized salt consumption was 68%, which was not a satisfactory level. The consumption of iodized salt in the urban areas was significantly higher than that in rural areas (74 vs 62%, p<0.05). The median UIC value was 10.00 microg/dl in urban areas compared to 5.00 microg/dl in rural areas. CONCLUSIONS: Our results indicate that although Isparta is a region with mild iodine deficiency, goiter prevalence remains a serious problem.

Lhermitte-Duclos disease associated with neurofibromatosis type-1 and non-ossifying fibroma.

Lhermitte-Duclos disease (LDD) is a rare cerebellar disorder of uncertain pathogenesis characterized by enlargement of cerebellar folia. Magnetic resonance imaging is the diagnostic modality of choice and usually distinguishes the LDD by its characteristic "striated or laminated pattern" appearance. Various additional abnormalities have been reported in association with LDD. We report a case of LDD coexisting with neurofibromatosis type 1 (NF-1) and non-ossifying fibroma.

Magnetic resonance imaging and diffusion-weighted imaging in methylmalonic acidemia.

Methylmalonic acidemia (MMA) is an inborn disorder of amino acid metabolism, often presenting with neurological symptoms. We present the results of magnetic resonance imaging (MRI) and diffusion-weighted imaging (DWI) of the brain in a 16-month-old male patient with classic neurological and laboratory findings for MMA. MRI demonstrated the hyperintensity within globi pallidi both on T2-weighted image and DWI during the acute episode of metabolic acidosis.

Hemophagocytic syndrome: a rare life-threatening complication of visceral leishmaniasis in a young boy.

The authors report a case of hemophagocytic syndrome (HPS) associated with acute visceral leishmaniasis (VL). A 4-year-old boy was admitted with high fever, hepatosplenomegaly, and pancytopenia. Elevated serum ferritin and triglyceride, low fibrinogen levels, and bone-marrow (BM) histiocytic hyperplasia with prominent hemophagocytosis were consistent with a HPS. An initial diagnosis of kala-azar was refuted because of negativity of BM aspiration and serology for this parasite, and the diagnosis HPS was made. Three months after first admission, reevaluation of the BM aspiration revealed many amastigotes of Leishmania parasites. The serology of VL became positive, finally establishing the diagnosis of VL. Although specific therapy for VL was instituted, the patient died 4 weeks after the diagnosis.

Plasma beta-carotene concentrations in pregnancies, newborn infants and their mothers.

Concentrations of beta-carotene were determined in maternal and fetal blood. The samples were collected from 33 mothers, their 33 newborns and 50 pregnant and 29 non-pregnant women. Beta-carotene concentrations of the non-pregnant, pregnant, newborn infant and their mothers were 140.31, 171.54, 63.57 and 175.74 micrograms/dl, respectively. There was a significant correlation (P < 0.001) between beta-carotene values of the maternal plasma and cord plasma. Mean maternal plasma beta-carotene concentration was higher (P < 0.0005) than that of the cord. These results suggest that plasma transport capacity of beta-carotene was low from mother to their fetus.

Maternal carriage and neonatal colonisation of group B streptococci in labour are uncommon in Turkey.

Group B streptococcus infection is an important cause of neonatal morbidity and mortality. We studied 114 women and their newborns to determine the relationship between maternal carriage and neonatal group B streptococcal colonisation. Rectal, cervical and vaginal swabs were taken at delivery. Within a few minutes of birth, swab specimens were also taken from throat, ear, umbilicus, conjunctiva and skin of the newborns. Group B streptococcus was isolated in 10 (8.7%) of the 114 pregnant women studied and in five (4.3%) of the 114 newborns. Vertical transmission rate was found to be 50%. Neonatal group B streptococcus colonisation has not reached a high level in Turkey, and consequently does not warrant intrapartum screening at the moment.

Neonatal omphalitis is still common in eastern Turkey.

88 newborns with omphalitis diagnosed at a University Hospital in Eastern Turkey from January 1988 to December 1990 were reviewed. The yearly incidence was 7.7% in inpatient newborns. Risk factors including septic delivery (especially home delivery), prematurity, and being small for gestational age appeared to be important. Clinical manifestations, white blood cell and absolute neutrophil counts were non-specific and non-pathognomonic. Bacteriologic analysis revealed that Gram-positive bacteria (68%) predominated over Gram-negative isolates (60%). Staphylococcus aureus and Escherichia coli were the most frequent microorganisms. Mortality rate was 15%; all deaths occurred in patients presenting with systemic symptoms. The following poor prognostic factors were identified: septic delivery (particularly at home), prematurity, being small for gestational age and the development of systemic symptoms.