P50 sensory gating in hypoxemic chronic obstructive pulmonary disease patients.

PURPOSE: Chronic obstructive pulmonary disease (COPD) is a condition characterized by progressive airway obstruction and recurrent attacks. Multisystem involvement with extrapulmonary manifestations has been seen in COPD patients. Numerous neurological involvement like cerebrovascular diseases, polyneuropathies, motor neuron diseases and cognitive impairement has been reported in COPD patients. Cognitive dysfunction is usually associated with hypoxia or hypercapnia in COPD patients. To our knowledge there is no study about sensory gating in COPD patients. We performed p50 test to COPD patients and we investigate sensory gating in COPD patients. PATIENTS AND METHODS: 25 male patients with COPD and 17 healthy male subjects for controls included to this study. The patients were diagnosed with COPD according to the Global Initiative for Chronic Obstructive Lung Disease (GOLD) criteria. p50 amplitude and latency, percentage of P50 suppression, N100 amplitude and latency and the N100 suppression percentage of the COPD patients and controls presented were measured and compared. RESULTS: We found that the conditioning amplitudes (S1) did not differ between COPD patients and controls (p > 0.05) but (S2) amplitude was significantly increased in COPD patients (p < 0.05). COPD patients showed significantly lower P50 and N100 suppression percentage than controls (p < 0.05). CONCLUSIONS: COPD patients showed a disturbance cognitive function such as attention with p50 suppression rate decrease. P50 sensory gating test can be useful to analyze the pre-attention period of cognitive impairment in the early phase of COPD patients.

Detection of fetal RHD pseudogene (RHDΨ) and hybrid RHD-CE-Ds from RHD-negative pregnant women with a free DNA fetal kit.

Hemolytic disease of the newborn is a clinical condition in which maternal and paternal Rh blood group antigens are incompatible and the mother is negative for the antigen whereas the father is positive. Analysis of fetal cells recovered from maternal plasma can provide a highly sensitive prenatal diagnosis. The fetal RHD gene in plasma DNA is detected by real-time PCR amplification of two different segments of the RHD gene (exons 7 and 10). Each amplicon is revealed with specific probes. We examined 40 female blood samples to verify the specificity of RHD exons (7 and 10) amplified by real-time PCR. Thirty fetuses were predicted to be RHD-positive based on analysis of plasma DNA. Seven fetuses were predicted to be RHD-negative. One fetus was negative for RHD on exon 10, and positive for RHD on exon 7 (early gestation age); two fetuses were RHD-negative on exon 7, and RHD-positive on exon 10 (RHD-CE-D(s) or RHDΨ), indicative of a maternal RHD allele. We conclude that it is necessary to analyze at least two exon regions in the RHD gene.

Serum microRNA expression in pregnancies with preeclampsia.

Preeclampsia continues to be a mortal disease of pregnant women throughout the world. Recently, geneticists, allied with obstetricians, have opened new frontiers. MicroRNAs (miRNAs) are members of a class of small, noncoding RNA molecules. They are critical posttranscriptional regulators of gene expression. We extracted circulating miRNA from maternal plasma and quantified mir-152 and mir-210. We found up-regulated miR-210 levels as well as down-regulated mir-152 levels in preeclampsia patients.We propose that detection of increased mir-210 levels in maternal serum could be used to improve prediction methods for noninvasive prenatal diagnosis of preeclampsia.

Value of the tuberculin skin test in screening for tuberculosis in dialysis patients.

BACKGROUND: Hemodialysis patients are at high risk for tuberculosis, and a tuberculin skin test (TST) is not usually helpful in detecting tuberculosis infection because of anergic reactions. Prophylactic therapy against tuberculosis in dialysis patients is important to enhance transplantation success. Herein we evaluated the value of TST in screening for tuberculosis and analyzed any compounding factors that might affect the results of the test in hemodialysis patients in an endemic area of Turkey. METHODS: A total of 187 (96 female, 91 male) patients were screened using a 2-step TST. Test results were compared with clinical, radiologic, and laboratory data. RESULTS: None of the patients had active tuberculosis during the study and 55% had been vaccinated against tuberculosis. After the first purified protein derivative (PPD) test, 55.1% of the patients showed a positive reaction, ultimately reaching a total of 68.4% following the second test. Cumulative positive TST results were significantly correlated with male gender (P=.001, r=.352), previous tuberculosis history (P=.013, r=.183) positively, whereas with the ferritin level (P=.001, r=-.233) negatively; but there were no significant relationships between TST results and other data. CONCLUSIONS: Impairment of delayed-type hypersensitivity reaction is frequent in dialysis patients, but we observed high rates of positivity with the two-step TST which could be attributed to tuberculosis being endemic in Turkey. Further comparative studies with more specific diagnostic methods will be helpful to evaluate the importance of TST positivity in identifying tuberculosis-infected HD patients.

Acute severe reversible oligohydramnios induced by indomethacin in a patient with rheumatoid arthritis: a case report and review of the literature.

Although the association between oligohydramnios and indomethacin use for premature labor has been well known for many years, there have been few cases published about it. We present a case of indomethacin-induced oligohydramnios due to use in a patient for rheumatoid arthritis. A 27-year-old G2P1 woman was referred to our prenatal unit with oligohydramnios at 33 weeks of pregnancy. Ultrasonography revealed severe oligohydramnios with an amniotic fluid index of 0.9 cm. She gave a history of daily 150 mg indomethacin use for newly diagnosed rheumatoid arthritis. All possible reasons for oligohydramnios were excluded and indomethacin was discontinued. In four days the amniotic fluid was observed as normal. We concluded that the oligohydramnios caused by indomethacin occurs quickly, is dose-related and reversible. Amniotic fluid volume should be monitored while using indomethacin.

A familial Xp+ chromosome detected during fetal karyotyping, which is associated with short stature in four generations of a Turkish family.

The short-stature homeobox-containing gene (SHOX) on chromosome Xp22.3 was recently identified as an important determinant of the stature phenotype. Deletions of the SHOX gene, some of them due to structural chromosome abnormalities, have been described in patients with idiopathic short stature and Leri-Weill syndrome. Additionally, haploinsufficiency of SHOX is a main cause for short stature seen in patients with Turner syndrome. Here we report an unusual X-chromosome abnormality, which was detected during a fetal karyotyping performed because of a previous child with Down syndrome. GTG banding demonstrated an extra chromosome segment on the terminal part of the short arm of chromosome X in the index case (karyotype: 46,X,Xp+). The same chromosomal abnormality was found in the mother and the maternal grandmother. All carriers of this chromosomal abnormality presented with short stature but no other associated symptoms. Whole chromosome painting of X revealed a homogeneous painting of the abnormal X chromosome indicating that no other chromosome was involved. Additional FISH studies with probe DXS1140 (Kallmann probe at Xp22.3), Quint-Essential X-Specific DNA (DMD probe at Xp21.2), XIST (at Xq13.2), and Tel Xq/Yq were performed, and no abnormality was observed in the intensities or the localizations of the probes signals. However, applying a specific SHOX gene probe (derived from cosmid LLNONO3M34F5) showed a loss of signal on the derivative X chromosome. Our results show that the Xp+ generation led to a deletion of the complete SHOX gene and caused short stature in the presented family.

[Screening for aneuploidy by first trimester nuchal translucency measurement: results from a prospective trial including 1980 cases in a single center in Switzerland]. / Nackentransparenzscreening im 1. Trimenon: Ergebnisse einer prospektiven Studie bei 1980 Feten aus einem Zentrum in der Schweiz.

AIM: The purpose of this study was to evaluate the efficiency of first trimester screening for chromosomal abnormalities using the sonographically determined thickness of nuchal translucency (NT) combined with maternal age. PATIENTS AND METHODS: Risk screening was offered to all patients with a fetal crown rump length (CRL) between 45 and 84 mm after extensive counselling. For the risk assessment the software provided by the Fetal Medicine Foundation was used. In accordance with the recommendation of the Swiss Working Group on First Trimester Screening a cut-off risk of 1 : 400 was chosen. RESULTS: A total of 1980 consecutive pregnancies participating in the risk screening programme with due dates prior to May 1, 2001 were included. Mean maternal age was 30.1 yrs and 522 (26.4 %) patients were 35 yrs or older. A positive risk screening result was obtained in a total of 219 (11.1 %) pregnancies including 33 of the 37 (1.9 %) cases with unbalanced chromosomal abnormalities. CONCLUSIONS: The detection rate for unbalanced chromosome abnormalities in general (89.2 %) as well as the one for trisomy 21 (93.3 %) in particular are very high with a moderate false-positive rate (9.6 %) in this series. As a comparison in the series presented here, traditional "maternal age screening" (cut-off age 35 yrs) would have yielded detection rates of 64.9 % for all unbalanced chromosome abnormalities and 73.3 % for trisomy 21 at a false-positive rate of 25.0 %. Reducing the false-positive rate by raising the cut-off age to 38 yrs would yield detection rates of 40.5 % for all unbalanced chromosome abnormalities and 46.7 % for trisomy 21 at a false-positive rate of 8.9 %. The number of invasive procedures performed to detect one unbalanced chromosome count may be calculated as 21.75 using the cut-off age of 35 yrs as compared to 6.4 using NT measurement and maternal age. The outcome of this ongoing study is in good accordance with the earlier observation that the main benefit of the addition of first trimester NT measurements to the risk screening protocol is a very high detection rate at a moderate false-positive rate.

A malformed fetus in a rudimentary uterine horn pregnancy.

We present a case of a 13-week pregnancy with a malformed fetus in a ruptured, non-communicating rudimentary horn. The patient, a 21-year-old woman with pelvic and right-sided abdominal pain, was admitted to the gynecology clinic of our institution. A ruptured rudimentary horn pregnancy was diagnosed by ultrasonography. The fetus in the gestation sac showed evisceration of the liver and intestines and an absent left femur. There was an amniotic band extending across the body of the fetus. The ruptured horn was excised by laparotomy. The factors associated with rudimentary horn pregnancy and related fetal abnormalities are discussed.

A 22-week cervical pregnancy.

We report on a cervical pregnancy at advanced gestational age. Misdiagnosis allowed pregnancy to proceed until the 22nd week of gestation and made its management more complicated. An abdominal hysterectomy with preservation of the adnexa was performed.

Tetra-amelia, lung hypo-/aplasia, cleft lip-palate, and heart defect: a new syndrome?

We report on a family with two sons affected with tetra-amelia, cleft lip-palate, bilateral agenesis of lungs, and heart defects. These two cases support the previous suggestions that this complex entity may indeed represent a new syndrome. However, the mode of inheritance is still not clarified.