Prenatal Diagnosis of a De Novo Partial Trisomy 6q and Partial Monosomy 18p Associated with Cephalocele: A Case Report.

A 28-year-old woman underwent amniocentesis at 18 weeks' gestation upon detection of increased fetal nuchal fold and parietal cephalocele on the second trimester ultrasound examination. Prenatal microarray showed a de novo unbalanced translocation resulting in a gain in 6q and loss in 18p. A female infant was delivered at 38 weeks' gestation. At birth, cephalocele and webbed neck were noted as major dysmorphic features. The case presented here shows how a combination of different genetic studies is used to accurately elucidate a chromosomal anomaly in a prenatal setting.

Clinical and Laboratory Features of Metformin Intoxication in Suicidal Patients Attending an Intensive Care Unit.

INTRODUCTION: This study has been performed for the purpose of researching the complications occurred at patients who took metformin overdose in an attempt to suicide. None of the patients has the diagnosis of diabetes mellitus and never used metformin. MATERIALS AND METHODS: This retrospective cross-sectional study was carried out with 21 patients who has neither diagnosed diabetes mellitus nor taken metformin for suicide before. RESULTS: It was observed that there is a moderate, negative (r = -0.63) statistically significant correlation (P < 0.001) between the time of applying to the hospital and arterial blood pH at the arrival and a statistically significant positive mild correlation (P < 0.041) between applying and blood lactate level (r = 0.45), and a moderate positive (r = 0.63) and statistically significant correlation (P < 0.001) between the total metformin dose and blood lactate level at the arrival and a positive, moderate (r = 0.68) significant correlation (P < 0.001) between the creatinine and metformin dose at the arrival. Lactic acidosis has been detected at 8 of 21 patients, 6 patients were hemodialized, 2 patients needed mechanical ventilation, and 2 patients died. It is observed that there is no mortality for early hemodialized patients. CONCLUSION: The most important reason of the mortality in patients who has metformin intoxication is metformin-associated lactic acidosis (MALA). It was considered that hemodialysis therapy could be effective in MALA.

Protective effect of oxymatrine against renal ischemia/reperfusion injury in rats.

BACKGROUND: Renal ischemia/reperfusion (I/R) injury is a common cause of acute kidney injury. The pathologic mechanisms underlying renal I/R injury are complicated, involving reactive oxygen species, necrosis, cell apoptosis, and inflammation, but the exact mechanisms remain unclear. OBJECTIVES: This study aimed to investigate the effect of oxymatrine (OMT) on renal I/R injury and its underlying mechanism. METHODS: Thirty male Sprague-Dawley rats were randomly allocated to three groups (n = 10): the sham-control group, the renal I/R-untreated (I/R-untreated) group, and the I/R-OMT group. Renal I/R injury were induced by clamping the left renal artery for 45 min followed by 24 h of reperfusion. At 10 min before reperfusion, the rats in the I/R-OMT-treated group rats received an intravenous injection of 40 mg/kg OMT. Renal function and histological changes were compared and the relevant parameters of oxidative stress and inflammation were detected. RESULTS: Oxymatrine pretreatment significantly decreased the level of renal dysfunction, attenuated the renal histological changes, the levels of reactive oxygen species production in renal tissue upon I/R. Additionally, OMT pretreatment could further activate the serum antioxidant enzyme activities. CONCLUSION: The beneficial effects of OMT were likely mediated by the inhibition of lipid peroxidation and the increase in endogenous antioxidant activity. The results of this study indicate that oxymatrine may represent a potent anti-oxidant drug to protect the kidney against I/R injury (Fig. 5, Ref. 29).

The effects of L-carnitine and N-acetylcysteine on carbontetrachloride induced acute liver damage in rats.

AIM: To investigate the effects of L-carnitine (LCAR) and N-acetylcysteine (NAC) on carbon tetrachloride (CCl4)-induced acute liver damage in rats. MATERIAL AND METHODS: Totally, 40 rats in 5 groups were included in the study. The first group was the control group. Group 2 received CCl4 (2 ml/kg). Group 3 was given CCl4 + NAC (150 mg/kg). The rats in the Group 4 were administered CCl4 + LCAR (100 mg/kg), and the rats in the Group 5 were given CCl4 + NAC + LCAR. Both CCl4 and the treatment protocols were administered via intraperitoneal route for 10 days. Tissue oxidative stress and antioxidant markers were investigated in liver tissue and serum liver enzymes were measured. RESULTS: The levels of blood liver enzymes (ALT and AST) increased significantly in the Group 2. However, they decreased markedly in all treatment groups. While malondialdehyde and myeloperoxidase levels in the liver tissue samples increased significantly in the 2nd group, those levels were determined to be decreased significantly in all treatment groups. When the liver tissue antioxidant levels were evaluated; reduced glutathione and catalase decreased markedly in the 2nd group, but increased following the administration of NAC and LCAR. The activities of liver tissue superoxide dismutase did not differ significantly among the groups. In the histopathologic evaluation of liver tissues, on the other hand, diffuse hepatosteatosis was observed in all groups except the control group and there was no significant difference among the groups from the point of steatosis. CONCLUSION: LCAR and NAC were concluded to have beneficial effects on the acute liver damage induced by CCl4 administration (Tab. 1, Fig. 5, Ref. 52). Text in PDF www.elis.sk.

Early onset neonatal thrombocytopenia is associated with severe intraventricular hemorrhage in very preterm infants: A retrospective cohort study.

BACKGROUND: The role of platelet function in the development of intraventricular hemorrhage is still a subject of debate. In this study, we aimed to determine whether there is an association between platelet indices in the first week of life and severity of intraventricular hemorrhage in very preterm infants. MATERIALS AND METHODS: Preterm infants born < 30 weeks of gestation in our hospital were retrospectively evaluated. Platelet parameters, including platelet counts, mean platelet volume, platelet distribution width, and platelet mass were retrieved at two different time points: the initial value on the first day of life and the value closest to the end of the first week of life. The infants were categorized according to the findings of cranial ultrasonography as; no intraventricular hemorrhage, mild or severe intraventricular hemorrhage. RESULTS: Totally, 1051 infants were evaluated. The mean gestational age and birth weight for the entire cohort were 27.9±1.6 weeks and 1058±247 g, respectively. Infants in the severe intraventricular hemorrhage group had significantly lower gestational age (p < 0.001) and birthweight (p < 0.001) compared to other two groups. Furthermore, there were significant differences in platelet count and platelet mass between the groups at two time intervals. However, logistic regression analysis revealed that only platelet count of < 100×109/L on the first postnatal day was independently associated with the severity of intraventricular hemorrhage. CONCLUSION: There is an association between platelet count of < 100×109/L on the first postnatal day and severe intraventricular hemorrhage in very preterm infants.

The protective effects of ketamine and propofol in obstructive jaundice: an experimental study.

OBJECTIVE: In this study, we investigated the protective effects of frequently used intravenous anesthetics (ketamine, propofol, thiopental, and fentanyl) in oxidative stress in a rat liver model of obstructive jaundice. MATERIALS AND METHODS: Thirty-two Wistar albino rats were divided into four groups in a randomized fashion. All rats were subjected to laparotomy, common bile duct ligation and severance on day 0. Following 7 days, laparotomy was again performed using ketamine, propofol, pentobarbital, or fentanyl anesthesia. After 2 hours, the animals were sacrificed and tissue specimens were acquired for histopathological scoring and determination of malondialdehyde (MDA), superoxide dismutase (SOD) and catalase (CAT) activities. RESULTS: All rats demonstrated enlargement in the bile duct, obstructive jaundice, and histopathologic ductal proliferation. MDA and SOD levels were significantly lower in the ketamine group compared with the thiopental and fentanyl groups. CAT was significantly increased in the ketamine group compared with the other groups. The best portal polymorphonuclear leukocyte and necrosis scores were in the ketamine group, but this difference was not statistically significant ( p=0.07). CONCLUSION: Ketamine and propofol were observed to cause the least amount of oxidative stress in this rat model of induced oxidative stress generated by ligation of the common bile duct. This experiment is the first study on this subject in the literature (Tab. 3, Ref. 65).

RNA interference-mediated URG4 gene silencing diminishes cyclin D1 mRNA expression in HepG2 cells.

Up-regulated gene 4 (URG4), stimulated by HBxAg, is a novel gene located on chromosome 7 (7p13). The full-length URG4 clone is 3.607 kb and encodes a polypeptide of 922 amino acids, with a molecular weight of 104 kDa (GeneID: 55665). It promotes cell growth, growth factor-independent survival, and anchorage-independent growth in HepG2 cells, and it accelerates tumor formation in nude mice. Hence, URG4 may be a natural effector of HBxAg and a putative oncogene that contributes to multi-step hepatocarcinogenesis. Cyclin D1 is frequently over-expressed in hepatocellular carcinoma, exhibiting a number of malignant phenotypes. We found that down-regulation of URG4 through RNA interference-mediated silencing suppressed cell proliferation in HepG2 cells. Over-expression of URG4 up-regulated cyclin D1 mRNA expression, whereas RNA interference-mediated URG4 silencing diminished cyclin D1 mRNA expression in HepG2 cells. The data suggest that URG4 may play an important role in the development of hepatocellular carcinoma by partially regulating the expression of cyclin D1 and has potential for use as a therapeutic target for hepatocellular carcinoma.

Metabolic conditions of fatty liver in non-diabetic obese women.

INTRODUCTION: Steatosis of the liver has a close association with metabolic conditions such as obesity, dyslipidemia and diabetes mellitus. We aimed to determine metabolic features of subjects with different degrees of ultrasonographic steatosis. MATERIALS AND METHODS: One hundred and thirty non-diabetic obese women were investigated (average age 43.47+/-12.55 yr, range 18-77 yr). They were negative for hepatitis virus and had no history of alcohol usage and diabetes mellitus. All subjects had a complete work-up including clinical examination, anthropometric measurements, laboratory tests, and a routine liver ultrasonographic scanning. Steatosis was graded as absent, mild, moderate, and severe. RESULTS: A progressive increase was observed in the body mass index (p<0.05), waist circumference (p<0.01), body fat percentage (p<0.05), fasting plasma glucose (p<0.01), triglyceride (p<0.05), alanine aminotransferase (p<0.01), and aspartate aminotransferase (p<0.05) levels as the severity of ultrasonographic fatty liver increased. Also, insulin resistance, which was calculated via homeostasis model assessment, metabolic syndrome, and the prevalence of high alanine aminotransferase levels increased significantly with the degree of the steatosis. On the other hand, hypertriglyceridemia was found to be the independent risk factor for the severity of the steatosis. CONCLUSION: The present study suggests that liver steatosis may be considered with some metabolic risk factors and particularly in the presence of insulin resistance and metabolic syndrome.

Effects of Nigella sativa seeds and certain species of fungi extracts on number and activation of dural mast cells in rats.

In this study, we aimed to investigate the effects of Nigella sativa seeds and certain species of fungi extracts on the number and degranulation states of dural mast cells in rats. Rats were fed ad libitum with normal tap water or tap water with extract of N. sativa seed, Ramaria condensata, Lactarius salmonicolor, Lactarius piperatus, and Tricholoma terreum for 3 days. Mast cells in dura mater were counted and evaluated in terms of granulation and degranulation states. Compound 48/80, a mast cell degranulating agent, and T. terreum significantly increased the percent of degranulated mast cells in dura mater, respectively (p < 0.01 and p < 0.05). Moreover, T. terreum causes a significant increase in the total number of mast cells (p < 0.05). N. sativa significantly inhibited mast cell degranulation induced by both the compound 48/80 and T. terreum (p < 0.05), and significantly decreased the mast cell numbers increased by T. terreum (p < 0.05). Our results suggested that T. terreum following ingestion can contribute to headaches like migraine via dural mast cell degranulation and N. sativa may be able to exert analgesic and anti-inflammatory effects by stabilizing dural mast cells. However, investigation is needed to determine the ingredients of N. sativa that may be responsible for these beneficial effects.

Effects of umbilical cord blood stem cells on healing factors for diabetic foot injuries.

The use of stem or progenitor cells from bone marrow, or peripheral or umbilical cord blood is becoming more common for treatment of diabetic foot problems. These cells promote neovascularization by angiogenic factors and they promote epithelium formation by stimulating cell replication and migration under certain pathological conditions. We investigated the role of CD34 + stem cells from human umbilical cord blood in wound healing using a rat model. Rats were randomly divided into a control group and two groups with diabetes induced by a single dose of 55 mg/kg intraperitoneal streptozocin. Scarred areas 5 mm in diameter were created on the feet of all rats. The diabetic rats constituted the diabetes control group and a diabetes + stem cell group with local injection into the wound site of 0.5 × 106 CD34 + stem cells from human umbilical cord blood. The newly formed skin in the foot wounds following CD34 + stem cell treatment showed significantly improvement by immunohistochemistry and TUNEL staining, and were closer to the wound healing of the control group than the untreated diabetic animals. The increase in FGF expression that accompanied the local injection of CD34 + stem cells indicates that FGF stimulation helped prevent apoptosis. Our findings suggest a promising new treatment approach to diabetic wound healing.

Nonarteritic anterior ischemic optic neuropathy in young patients.

PURPOSE: To determine and report the demographic and clinical features of patients younger than 50 years with nonarteritic anterior ischemic optic neuropathy (NAION). MATERIAL AND METHODS: In this comparative study, we retrospectively reviewed the medical records of 120 patients with NAION. Patients were divided into two groups according to their age; in group I, 44 patients were younger than 50 years, and in group II, 76 patients were older than 50 years. RESULTS: The gender distribution was similar in both main groups. Involvement was bilateral in 50% and 26.3% of patients, respectively (P<0.0001). Diabetes mellitus was present in 63.6% of patients in group I and 47.3% of patients in group II (P=0.009). We found hypertension as a frequent risk factor in group II (P=0.019). There was no significant difference in the initial and final visual acuities of patients between the two groups. Both groups had a significantly thinner peripapillary nerve fiber layer (RNFL) in every quadrant. The relative loss was greatest in the superior quadrant in both groups. We generally observed inferior altitudinal defect and superior RNFL thinning in two groups. In group I, 30 eyes (68.1%) demonstrated angiographically diffuse optic disc filling delay of ≥5seconds after choroidal filling confirming ischemia, and 14 (31.8%) eyes with segmental optic disc filling delay. In group II, diffuse optic disc filling delay was seen in 56 of 76 (73.6%) eyes. Segmental optic disc filling delay was present in 20 eyes (26.3%). There was no significant difference in angiographic findings between the two groups (P=0.67). CONCLUSION: We observed that age did not play a significant role in prognosis of NAION. Diabetes is an increased risk for NAION in the young age group, and HT for NAION in the older group. Fellow eye involvement is more frequent in young patients. These patients should be followed closely.

Risk factors for ocular surface disorders in patients with diabetes mellitus.

OBJECTIVE: To evaluate risk factors for ocular surface disorders and tear dysfunction in patients with type 2 diabetes. STUDY DESIGN AND METHODS: This prospective case controlled study included 41 patients with type 2 diabetes and 20 healthy subjects as the control group. All subjects underwent routine ophthalmic examination, tear film break-up time (BUT) test, Schirmer test, fluorescein dye test, rose bengal staining test, and a questionnaire for subjective complaints. The relationship of metabolic control of diabetes mellitus, duration of diabetes, severity of diabetic retinopathy, and argon laser photocoagulation (ALP) to tear dysfunction was evaluated. RESULTS: Tear film BUT and Schirmer test values were significantly lower in diabetic patients compared with control subjects (P < 0.001). In the diabetic group, significantly more subjects had abnormal fluorescein and rose bengal staining than in the control group (P < 0.001). Abnormal tear function tests were associated with poorer metabolic glucose control, panretinal ALP, and proliferative diabetic retinopathy (P < 0.05), but not with duration of diabetes (P > 0.05). CONCLUSIONS: The results of the study indicate that poor metabolic control, panretinal ALP, and proliferative diabetic retinopathy are high risk factors for ocular surface disorders in type 2 diabetes. These patients should be followed more carefully, and should be referred to an ophthalmologist when required.

Relationship between optokinetic nystagmus response and recognition visual acuity.

PURPOSE: The aim of this study was to investigate the relation between recognition visual acuity (RVA) and optokinetic nystagmus (OKN) response exhibited to different bar sizes with varying contrast. METHODS: OKN testing was performed in 52 children aged between 3 and 11 years. The children were evaluated in two groups according to their RVA. Group I consisted of 22 eyes with RVA equal to or better than 0.1 logMAR units. Group II consisted of 30 eyes with RVA 0.2-1 logMAR units. Each subject was seated 60 cm from the screen of Ophthimus device, and was exposed to consecutive black and white stripes of seven different spatial frequencies (0.08-1.6 cycle/degree). The narrowest bar that elicited OKN was identified, and then the OKN contrast threshold at this bar size was established. RESULTS: Twenty-one of the 22 eyes in Group I, and 26 of the 30 eyes in Group II exhibited 1.6 cycle/degree spatial frequency (P=0.287). In Group II, 88.9% of the 18 eyes with RVA 0.2-0.5 logMAR responded at this maximum spatial frequency, whereas the corresponding figure for the 12 eyes with RVA 0.6-1 logMAR was 83.3% (P=0.531). Contrast sensitivity (CS) significantly changed with age in Group I (P=0.006). When the eyes that responded at maximum spatial frequency in the two groups were compared, the mean CS in Group II was significantly lower than that in Group I (P=0.005). CONCLUSIONS: The results indicate no relation between spatial frequency threshold for OKN response and RVA in children. However, the children with RVA deficits had significantly lower CS.

Decision-making in second-eye cataract surgery: can presence of Pulfrich phenomenon help?

PURPOSE: To determine whether testing for the Pulfrich phenomenon (PP) can be used as a tool to assess the need for and optimal timing of second-eye cataract surgery. METHODS: A total of 61 patients with logMAR 0 visual acuity (VA) after cataract surgery in one eye and logMAR 0.2-0.7 VA in the other eye were tested for PP using a computer-generated oscillating target at Baskent University Hospital. Only patients who had no ophthalmologic or systemic problem that could cause PP were included. In all, 15 normal patients with logMAR 0 VA in both eyes served as controls. The main outcome measures were presence and magnitude (measured by neutral density filters) of PP and presence of complaints related to binocular vision. RESULTS: Of the 61 patients, 36 (59%) and none of the controls were PP (+) (P<0.001). A total of 27 (75%) of the PP (+) patients had logMAR 0.7-0.4 VA, and nine (25%) had logMAR 0.3-0.2 VA (P=0.01). In all, 16 patients (all PP (+)) had developed binocular vision-related complaints since cataract surgery. The mean PP magnitude in these cases was significantly greater than the mean for the 20 patients without complaints (1.2+/-0.5 vs0.6+/-0.4 log units, respectively; P<0.001). There was no significant difference between the mean VA in the complaint (+) and complaint (-) subgroups (P=0.213). CONCLUSION: PP testing may detect binocular visual dysfunction after first-eye cataract surgery; thus, it could help assess the need for second-eye cataract surgery on this basis.

Comparison of additional intraocular pressure-lowering effects of latanoprost vs brimonidine in primary open-angle glaucoma patients with intraocular pressure uncontrolled by timolol-dorzolamide combination.

PURPOSE: To compare the additive intraocular pressure (IOP)-lowering effects of latanoprost 0.005% and brimonidine 0.2% in primary open-angle glaucoma (POAG) patients uncontrolled on fixed combination of timolol 0.5% and dorzolamide 2% (TDC) alone. METHODS: In all, 80 eyes of 80 POAG patients with IOP inadequately controlled by TDC were randomly assigned to receive either latanoprost 0.005% or brimonidine 0.2%. IOP measurements were recorded at 1000 (peak effect) and 1600 (trough effect) on day 0 (baseline) and at 1 and 3 months. At each stage and time point, the mean IOP reductions from baseline were evaluated for both groups, and success rates (minimum 15% reduction) were determined. RESULTS: At baseline, the mean peak/trough IOPs with TDC were 20.2/21.6 and 19.9/21.4 mmHg in latanoprost and brimonidine groups, respectively. Latanoprost+TDC reduced the mean peak/trough IOP by 4.4/3.4 and 5.2/3.5 mmHg at 1 and 3 months. The corresponding values for brimonidine+TDC were 3.9/2.9 and 4.6/2.9 mmHg. Each of these results represented a significant reduction from baseline (P<0.001 for all); however, the groups' peak/trough reductions from baseline did not differ at any time point (P>0.05 for all). With the latanoprost+TDC combination, the peak/trough success rates at 1 and 3 months were 76.3%/42.1% and 77.1%/40%. The corresponding values with the brimonidine+TDC combination were 71.8%/41% and 77.7%/41.7%. There were no significant differences in the groups' success rates at any time point (P>0.05 for all). CONCLUSION: Addition of latanoprost 0.005% or brimonidine 0.2% to TDC reduces peak/trough IOPs significantly and the effects of these combinations are comparable.