1517 Cold Water Dr
Tyler TX 75703
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Turner Syndrome Genotype and phenotype and their effect on presenting features and timing of Diagnosis. - International journal of health sciences
Turner syndrome (TS) is a common genetic disorder caused by abnormalities of the X chromosome. We aimed to describe the phenotypic characteristics of TS patients and evaluate their association with presenting clinical characteristics and time at diagnosis.We studied females diagnosed with TS at King Abdul Aziz Medical City (KAMC), Riyadh between 1983 and 2010. Patients were classified based upon karyotype into females with classical monosomy 45,X (group A) and females with other X chromosome abnormalities (mosaic 45,X/46,XX, Xqisochromosomes, Xp or Xq deletion) (group B). Clinical features of the two groups were analyzed.Of the 52 patients included in the study, 16(30.8%) were diagnosed with classical monosomy 45,X and the rest with other X chromosome abnormalities. Only 19(36.5%) patients were diagnosed in infancy and the remaining during childhood or later (odds ratio (OR) = 4.5,95%CI 1.27-15.90, p=0.02). Short stature was universal in group A versus 77.8% in group B. All patients in group A had primary amenorrhea compared with 63.2% of those in group B (P = 0.04); the rest of group B had secondary amenorrhea. Cardiovascular abnormalities were higher in group A (OR=3.50, 95%CI 0.99-12.29, p-value =0.05). Renal defects and recurrent otitis media were similar in both groups.This study suggests that karyotype variations might affect the phenotype of TS; however, it may not reliably predict the clinical presentation. Chromosomal analysis for all suspected cases of TS should be promptly done at childhood in order to design an appropriate management plan early in life.
Mitral balloon valvuloplasty during pregnancy:The long term up to 17 years obstetric outcome and childhood development. - Pakistan journal of medical sciences
Background & Objectives : We report 17 years outcome of subsequent pregnancies of women with severe Mitral Stenosis (MS) who underwent Mitral Balloon Valvuloplasty (MBV) during pregnancy and the follow up of the children born of such pregnancies.Twenty three pregnant patients suffering from severe MS (NYHA-New York Heart Association class III/IV) who underwent MBV by Inoue balloon catheter technique during second trimester were enrolled. The study was performed between January 1992 and December 2008 at King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia, during which time, details about the obstetric outcome and childhood development were recorded. Mean follow up period was 10Â± 5.5 years (range 1-17 years).MBV was successful in all patients with improvement in their NYHA class to I/II. All patients were followed until term and had uneventful course after MBV. Twenty two (95.6%) patients delivered 23 babies including a twin birth. These children exhibited normal growth and development according to their age. Nineteen patients had further pregnancies and gave birth to 38 live & healthy babies with one still birth and no unfavorable maternal outcome. Of these, 97.4% were singleton pregnancies while 2.6% were twin pregnancies. Spontaneous abortions were recorded in 21.5% and there was one still birth (2.5%) and one ectopic pregnancy (2.5%). Conclusion : Mitral Balloon Valvuloplasty is a safe and useful procedure during pregnancy, with no short or long term adverse affects on the mothers and their obstetric future. The children born of subsequent pregnancies exhibited normal physical and mental development.
Cognitive and biochemical effects of monosodium glutamate and aspartame, administered individually and in combination in male albino mice. - Neurotoxicology and teratology
The present study was designed to investigate the in vivo effects of monosodium glutamate (MSG) and aspartame (ASM) individually and in combination on the cognitive behavior and biochemical parameters like neurotransmitters and oxidative stress indices in the brain tissue of mice. Forty male Swiss albino mice were randomly divided into four groups of ten each and were exposed to MSG and ASM through drinking water for one month. Group I was the control and was given normal tap water. Groups II and III received MSG (8 mg/kg) and ASM (32 mg/kg) respectively dissolved in tap water. Group IV received MSG and ASM together in the same doses. After the exposure period, the animals were subjected to cognitive behavioral tests in a shuttle box and a water maze. Thereafter, the animals were sacrificed and the neurotransmitters and oxidative stress indices were estimated in their forebrain tissue. Both MSG and ASM individually as well as in combination had significant disruptive effects on the cognitive responses, memory retention and learning capabilities of the mice in the order (MSG+ASM)>ASM>MSG. Furthermore, while MSG and ASM individually were unable to alter the brain neurotransmitters and the oxidative stress indices, their combination dose (MSG+ASM) decreased significantly the levels of neurotransmitters (dopamine and serotonin) and it also caused oxidative stress by increasing the lipid peroxides measured in the form of thiobarbituric acid-reactive substances (TBARS) and decreasing the level of total glutathione (GSH). Further studies are required to evaluate the synergistic effects of MSG and ASM on the neurotransmitters and oxidative stress indices and their involvement in cognitive dysfunctions.Copyright Â© 2014 Elsevier Inc. All rights reserved.
A reconciled estimate of ice-sheet mass balance. - Science (New York, N.Y.)
We combined an ensemble of satellite altimetry, interferometry, and gravimetry data sets using common geographical regions, time intervals, and models of surface mass balance and glacial isostatic adjustment to estimate the mass balance of Earth's polar ice sheets. We find that there is good agreement between different satellite methods--especially in Greenland and West Antarctica--and that combining satellite data sets leads to greater certainty. Between 1992 and 2011, the ice sheets of Greenland, East Antarctica, West Antarctica, and the Antarctic Peninsula changed in mass by -142 Â± 49, +14 Â± 43, -65 Â± 26, and -20 Â± 14 gigatonnes year(-1), respectively. Since 1992, the polar ice sheets have contributed, on average, 0.59 Â± 0.20 millimeter year(-1) to the rate of global sea-level rise.
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1517 Cold Water Dr Tyler, TX 75703
4295 Kinsey Dr