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Feline immunodeficiency virus (FIV) is a common infection found in domesticated and wild cats worldwide. Despite the wealth of therapeutic understanding of the disease in humans, considerably less information exists regarding the treatment of the disease in felines. Current treatment relies on drugs developed for the related human immunodeficiency virus (HIV) and includes compounds of the popular non‐nucleotide reverse transcriptase (NNRTI) class. This is despite FIV‐RT being only 67% similar to HIV‐1 RT at the enzyme level, increasing to 88% for the allosteric pocket targeted by NNRTIs. The goal of this project was to try to quantify how well the more extensive pharmacological knowledge available for human disease translates to felines. To this end we screened known NNRTIs and 10 diverse pyrimidine analogs identified virtually. We use this chemo‐centric probe approach to (a) assess the similarity between the two related RT targets based on the observed experimental inhibition values, (b) try to identify more potent inhibitors at FIV, and (c) gain a better appreciation of the structure–activity relationships (SAR). We found the correlation between IC50s at the two targets to be strong (r2 = 0.87) and identified compound 1 as the most potent inhibitor of FIV with IC50 of 0.030 μM ± 0.009. This compared to FIV IC50 values of 0.22 ± 0.17 μM, 0.040 ± 0.010 μM and >160 μM for known anti HIV‐1 RT drugs Efavirenz, Rilpivirine, and Nevirapine, respectively. This knowledge, along with an understanding of the structural origin that give rise to any differences could improve the way HIV drugs are repurposed for FIV. [ABSTRACT FROM AUTHOR]

This study aims to investigate the biosurfactant production capabilities of bacterial strains isolated from oil-contaminated soil samples. Employing a comprehensive methodological approach, we collected soil samples from thirty different fuel pumps and conducted an extensive screening of bacterial isolates using various tests such as hemolytic activity, emulsification index, blue agar plate method, and drop collapsing test. The results revealed significant biosurfactant production among certain isolates, specifically highlighting the effectiveness of two particular strains. This paper presents a detailed analysis of these strains, including their optimal growth conditions in terms of pH, temperature, carbon, and nitrogen sources. Our findings indicate a notable potential of these bacterial strains in biosurfactant production, with implications for environmental bioremediation, particularly in oil pollution contexts. The study also sheds light on the limitations encountered and underscores the originality of the research in exploring biosurfactant production in a novel context. This study contributes to the field by offering insights into the effective utilization of microbial strains for biosurfactant synthesis, which is crucial for sustainable and eco-friendly bioremediation practices.

This study aims to investigate the biosurfactant production capabilities of bacterial strains isolated from oil-contaminated soil samples. Employing a comprehensive methodological approach, we collected soil samples from thirty different fuel pumps and conducted an extensive screening of bacterial isolates using various tests such as hemolytic activity, emulsification index, blue agar plate method, and drop collapsing test. The results revealed significant biosurfactant production among certain isolates, specifically highlighting the effectiveness of two particular strains. This paper presents a detailed analysis of these strains, including their optimal growth conditions in terms of pH, temperature, carbon, and nitrogen sources. Our findings indicate a notable potential of these bacterial strains in biosurfactant production, with implications for environmental bioremediation, particularly in oil pollution contexts. The study also sheds light on the limitations encountered and underscores the originality of the research in exploring biosurfactant production in a novel context. This study contributes to the field by offering insights into the effective utilization of microbial strains for biosurfactant synthesis, which is crucial for sustainable and eco-friendly bioremediation practices. [ABSTRACT FROM AUTHOR]

Introduction and Objective: Gelatinization temperature is one of the most important characteristics of determining cooking time and an important indicator of rice grain quality. Gelatinization temperature is defined as the temperature at which rice starch granules begin to irreversibly lose their crystalline nature and order. In this research, phenotypic and molecular screening of 50 different genotypes of local and improved varieties of rice was done in order to separate selective varieties of rice based on the difference in gelatinization temperature. Material and Methods: The required seeds for the study were obtained from the collection of the Rice Research Institute of Iran, and after cultivation in the research field of the Rice Research Institute, the produced seeds were harvested and the gelatinization temperature of the rice seeds was measured based on the phenotypic test. It was done with 1/7% potassium hydroxide method and molecular evaluation was done using the marker (Alk) (from the genes controlling the gelatinization temperature) and the logistic regression model was used to analyze the correlation between genes and phenotype. Results: Based on the phenotypic evaluation based on the biochemical trait of gelatinization temperature created for different rice samples, it was determined that out of 50 genotypes, 33 cultivars had a gelatinization temperature of 3-5 and 17 cultivars had a gelatinization temperature of 6-7 were. In the molecular evaluation, the marker (Alk) separated 33 cultivars with a gelatinization temperature of 3 to 5. Conclusion: Potassium hydroxide method has 1/7% efficiency to differentiate genotypes with different gelatinization temperature. The marker (Alk) also has the necessary efficiency in separating genotypes with medium gelatinization temperature. [ABSTRACT FROM AUTHOR]

Aim: to find out the predictive value of blood serum biochemical parameters PAPP-A (pregnancy-associated plasma protein A) and β-hCG (beta subunit of human chorionic gonadotropin) in the assessment of unfavorable pregnancy outcomes in women infected by human immunodeficiency virus (HIV) as well as viral hepatitis B (HBV) and C (HCV).Materials and Methods. A retrospective study of the medical records from 52 women was carried out, including 19 HIV-infected women, 9 women with monoinfection HBV or HCV, 11 pregnant women who were co-infected (HIV/HBV or HIV/HCV) and 13 uninfected women. PAPP-A and β-hCG levels, expressed as MoM (multiple of median), were evaluated in all women.Results. Our study revealed that only PAPP-A was prognostically significant for developing chronic placental insufficiency in women with HIV infection and co-infection of HIV together hepatitis B and C. None of the parameters examined were significant in women with HBV or HCV monoinfection. PAPP-A and β-hCG in pregnant women without infections were effective in predicting development of chronic placental insufficiency.Conclusion. PAPP-A can be used as a diagnostic parameter of developing chronic placental insufficiency in pregnant women with monoinfection HIV and co-infection with HIV/HBV or HIV/HCV.

• Cystic fibrosis (CF) newborn screening with pancreatitis associated protein (PAP) as second-tier test might be an option in multiethnic populations. • PAP-based protocols may have advantages in detectig fewer newborns designated as CFSPID (Cystic fibrosis screening positive, inconclusive diagnosis) • PAP-based CF screening protocols achieve adequate sensitivity when PAP is evaluated as a second-tier test together with the first-tier test IRT, but this comes at the expense of PPV. Previous studies suggest that PAP-based CF protocols are suitable for newborn screening (NBS) for cystic fibrosis (CF) when newborns designated as CFSPID should not be detected. However, there are still discussions about the performance of IRT/PAP algorithms. We present the final results of a pilot study evaluating a IRT/PAP protocol with an IRT-dependent safety net (SN) conducted from 2008 to 2016 in southwestern Germany on nearly 500,000 newborns. To achieve reliable data, all newborns were screened using both the PAP-based and a DNA-based CFNBS algorithm. PAP quantification and genetic analysis of the four most common CFTR mutations in Germany were performed in all newborns with IRT≥99.0 percentile. NBS was rated positive if either PAP was ≥1.6 µg/l and/or at least one CFTR mutation was detected. In addition, an IRT-dependent SN resulted in positive rating for both protocols if IRT was ≥99.9 percentile. To evaluate the IRT/PAP protocol, its performance was compared to that of the IRT/DNA protocol. The IRT/PAP protocol with IRT-based SN used in the study achieved a sensitivity of 94%, if false-negative detected neonates with meconium ileus and those designated as CFSPID were excluded from analysis. CF/CFSPID ratio was 92. However, PPV of the IRT/PAP+SN protocol was with 10.3% very low. PAP-based CFNBS protocols can be used, if less detection of CFSPID is desired. The IRT/PAP protocol with IRT-dependent SN evaluated here achieved adequate sensitivity but should probably be used in combination with a third-tier test to also achieve an acceptable PPV. [ABSTRACT FROM AUTHOR]

Introduction. Perinatal mortality in multiple pregnancies increases by 8–10 times compared to singletons. Stillbirth is a significant part of all complications of multiple pregnancies. Although the incidence of perinatal mortality in multiple pregnancies has decreased consistently compared to extremely high rates in the past, it remains relatively high, despite significant positive changes in the management of such pregnancies. Aim: to assess the diagnostic potential of the first trimester's biochemical screening in multiple pregnancies for predicting antenatal fetal death. Materials and Methods. As part of a retrospective study, a cohort of twin pregnancies after in vitro fertilization (IVF), intracytoplasmic sperm injection (ICSI), or spontaneous conception underwent screening of the first trimester at 11+0–13+6 weeks of gestation as recommended by the Fetal Medicine Foundation. Determination of pregnancy-associated plasma protein-A (PAPP-A) in blood serum with subsequent calculation of the relative PAPP-A MoM (multiples of median) – a multiple of the median (an indicator of how much the individual test result deviates from the reference values) was performed. Results. Prenatal screening and outcomes of 302 multiple pregnancies showed that with PAPP-A MoM < 0.5, antenatal fetal death occurred with a frequency of 42.86 % (6/14), with PAPP-A MoM within the reference values – In 12.67 % (28/221), with PAPP-A MoM > 2.0 – in 6.7 % (2/30). Differences between patients with PAPP-A MoM < 0.5 and PAPP-A MoM within the reference values, as well as PAPP-A MoM < 0.5 and PAPP-A MoM > 2.0 were statistically significant (p = 0.002 and p = 0.004, respectively). No differences were detected between spontaneous and assisted reproductive technology (ART) pregnancies. Conclusion. In women with multiple pregnancies resulting from ART or spontaneous, PAPP-A MoM values below the reference interval (< 0.5) in the first trimester are associated with an increased risk of antenatal fetal death.

Aim: to evaluate the ability of serum biochemical markers in pregnant woman - PAPP-A (pregnancy-associated plasma protein-A) and β-hCG (the в-subunit of human chorionic gonadotropin) studied in the first trimester (11+0-13+6) during combined prenatal screening to predict adverse perinatal outcomes of multiple pregnancy that occurred spontaneously and as a result of in vitro fertilization (IVF).Materials and methods. The main group consisted from 65 women with pregnancy occurred as a result of IVF; comparison group included 56 women with spontaneous pregnancy. All pregnancies were multiple and their outcomes were known. Serum PAPP-A and β-hCG levels were measured in the first trimester. The results were expressed in absolute values and in MoM (multiples of median). Subgroups were compared with mono- and dichorionic pregnancies, complicated and uncomplicated pregnancies, distributed according to MoM index: within the reference values (0.5-2.0), below or above the reference values.Results. PAPP-A MoM values in the spontaneous pregnancy group were 1.12 [0.8; 1.57], in the IVF group - 1.35 [1.11; 1.72] (p = 0.01). In subgroup of low PAPP-A MoM antenatal fetal death occurred in 50 %, in subgroup of normal PAPP-A MoM - in 14.58 %, in subgroup of high PAPP-A MoM - in 5.88 % (p = 0.011). In addition, a positive correlation was found between serum PAPP-A level and time of fetal death (rs = 0.564; p = 0.036). Low PAPP-A MoM values were associated with 50 % fetal mortality, 75 % of them were attributable to pregnancy as a result of IVF.Conclusion. Identification of adverse outcomes in multiple pregnancies is still a difficult task, but evaluation of serum biochemical markers during the first trimester screening can help in early diagnosis of necessity and extent of timely prophylaxis.

More than one and half years have passed, as of August 2021, since the COVID-19 caused by the novel coronavirus named SARS-CoV-2 emerged in 2019. While the recent success of vaccine developments likely reduces the severe cases, there is still a strong requirement of safety and effective therapeutic drugs for overcoming the unprecedented situation. Here we review the recent progress and the status of the drug discovery against COVID-19 with emphasizing a structure-based perspective. Structural data regarding the SARS-CoV-2 proteome has been rapidly accumulated in the Protein Data Bank, and up to 68% of the total amino acid residues encoded in the genome were covered by the structural data. Despite a global effort of in silico and in vitro screenings for drug repurposing, there is only a limited number of drugs had been successfully authorized by drug regulation organizations. Although many approved drugs and natural compounds, which exhibited antiviral activity in vitro, were considered potential drugs against COVID-19, a further multidisciplinary investigation is required for understanding the mechanisms underlying the antiviral effects of the drugs.

Analysis of four newborn screening modes using newborn genomic sequencing (nGS) and traditional biochemical screening (TBS). Prospective clinical study with a total of 1,012 newborn samples from retrospective TBS. Three independent groups performed the study under strict double-blind conditions according to the screening modes: independent biochemical (IBS), independent NeoSeq (INS), sequential (SS), and combined (CS) screening. Using targeted sequencing, the NeoSeq panel included 154 pathogenic genes covering 86 diseases. Of the 1,012 newborns, 120 were diagnosed were diagnosed with genetic diseases Among them, 52 cases were within the scope of TBS and 68 additional cases were identified through nGS. The number of cases detected per screening mode was 50, 113, 56, and 119 for IBS, INS, SS, and CS, respectively. CS was the most satisfactory screening mode, with the detection rate of 99.17%, the specificity and positive predictive value of 100%, and the negative predictive value of 99.89%. In addition, of the 68 cases identified by nGS (96 variants in 31 pathogenic genes), only four participants (5.9%) had clinical manifestations consistent with the disease. The experimental reporting cycles of CS and INS were the shortest. CS was the most satisfactory method for newborn screening, which combined nGS with TBS to improve early diagnosis. [ABSTRACT FROM AUTHOR]

Introduction. NiemannPick type C disease (NPC) is a rare neurovisceral lysosomal storage disease with an autosomal recessie type of inheritance that develops as a result of abnormal intracellular transport of cholesterol and other lipids. The possibility of pathogenetic therapy makes it very important to screen the population and identify new cases of the disease. Objective. Conducting biochemical and genetic screening in the group of adult patients with early-onset ataxia of unclear origin to detect new cases of NPC, with subsequent initiation of pathogenetic substrate reduction therapy and studies of clinical, genetic and biochemical characteristics the disease. Materials and methods. Ninety-five persons (1840 years of age), both males and females, from different regions of Russia suffering from primary ataxia of unknown origin, associated with other neurological symptoms and/or visceral and psychiatric disorders, were examined. Patients underwent neurological examination and neuropsychological testing. During biochemical screening, the concentrations of blood plasma oxysterols (cholestane-3,5,6-triol and 7-ketocholesterol) and chitotriosidase were examined. The presence of pathogenic mutations in the NPC1 and NPC2 genes was detected by total sequencing of all exons of these genes. Results. On biochemical screening, 3 patients were identified whose cholestane-3,5,6-triol concentration and chitotriosidase activity were significantly higher than the reference norm, and 7-ketocholesterol concentration was either higher or at the level of the upper limit of the norm. On sequencing of the NPC1 gene, two unrelated patients (21-year-old woman and 37-year-old man) were found to carry 2 pathogenic compound heterozygous mutations each, and these findings confirm the diagnosis of NPC. The clinical picture was represented by a combination of neurological, psychiatric and visceral symptoms. In both patients, cerebellar ataxia was accompanied by dystonia and other extrapyramidal disorders, as well as vertical supranuclear gaze palsy, and bulbar and pseudobulbar symptoms. There were also affective disorders and progressive cognitive decline up to dementia of the frontal type. Both patients had ultrasound signs of isolated splenomegaly. The score for the NPC suspicion index was 200 points. Thus, in the studied group, NPC was detected in 2.1% of patients. Conclusions. Biochemical screening of oxysterols and chitotriosidase of blood plasma is a quick and inexpensive method for biochemical diagnosis of NPC, the diagnostic value of which is unquestionable in the case of integrated assessment of the history of the disease, the clinical picture and the results of instrumental diagnostic exams. Adult patients with early-onset ataxia associated with visceral and psychiatric disorders are at risk group for having NPC. They should primarily be sent to screening biochemical studies, and, in case of positive results, to carry out mutation screening of NPC1 and NPC2 genes.

Purpose: To determine whether published disease penetrance estimates of 50% for pheochromocytoma and 20–30% for primary hyperparathyroidism in multiple endocrine neoplasia (MEN 2A), conceivably reflecting overrepresentation of index patients with completely developed MEN 2A, may be too high. Methods: Cross-sectional study of carriers at high risk of MEN 2A from a tertiary referral center. Results: There were 213 carriers of RET mutations in codon 634, born between 1922 and 2014. Median age of thyroidectomy was 17 years, with MTC being present in 76.5%; pheochromocytoma in 31.0% at a median of 34 years in the first, and in 18.8% at a median of 35 years in the second adrenal; and primary hyperparathyroidism in 10.8% at a median of 39 years. MTC, pheochromocytoma and primary hyperparathyroidism, stratified by year of birth, were diagnosed earlier over time: for MTC from 51 to 4 years; for pheochromocytoma from 51 to 22.5 years in the first, and from 51 to 29.5 years in the second adrenal, and for primary hyperparathyroidism from 46 to 12 years (P ≤ 0.008). This decline in age was paralleled by diminishing tumor diameters, more strongly in the thyroid (from 20 to 1.8 mm; P < 0.001) than in the adrenals (from 43 to 30 mm in the first, and from 20–57.5 to 30.5 mm in the second adrenal; statistically nonsignificant). Conclusions: The lower disease penetrance estimates and sluggish decline of adrenal tumor diameters call for more widespread adoption of adrenal-sparing and parathyroid preservation surgery based on early and regular biochemical screening. [ABSTRACT FROM AUTHOR]

Impacts of pre-sampling practices on fish plasma biochemistry may bias the outcome of a study if not considered within the general sampling strategy. Acute handling stresses can be imposed on fish during capture, and it is common practice to immobilise fish via sedation prior to obtaining blood samples for non-lethal extraction purposes, and/or to reduce stress, pain, or suffering before being euthanised. We investigated these potential influences using a Chinook salmon model (Oncorhynchus tshawytscha) by measuring levels of 119 biochemical targets comprising ions, metabolites, and enzymes in plasma. Multivariate analyses showed that 2 min of confinement with mild handling manipulation led to a significant departure from baseline metabolism, which was further exasperated during a prolonged 5-min challenge. These changes were characterised by a disruption in osmoregulation, a switch towards anaerobic metabolism, and shifts in ammonia recycling, among others. Sedation of fish with clove oil and AQUI-S® had major impacts on plasma biochemical profiles, with alterations signalling changes in glycolytic metabolism, respiratory modes, carbon flux through the TCA cycle, and lipid compartmentalisation. Sedation also enhanced levels of plasma amino acids, revealing a key difference between responses to handling stress and sedation. These results demonstrate that pre-harvest practices should be carefully managed during fish sampling for biochemical/metabolomic-based analyses, and if manipulations are essential, they should be standardised. [ABSTRACT FROM AUTHOR]

Background: First-trimester maternal serum markers have been associated with preeclampsia (PE). We aimed to evaluate the performance of first-trimester placental growth factor (PlGF) for the prediction of PE in nulliparous women.Subjects and Methods: We conducted a prospective cohort study of nulliparous women with singleton pregnancy at 11-13 weeks. Maternal serum PlGF concentration was measured using B·R·A·H·M·S PlGFplus KRYPTOR automated assays and reported in multiple of the median adjusted for gestational age. We used proportional hazard models, along with receiver operating characteristic curves and areas under the curve (AUC).Results: Out of 4,652 participants, we observed 232 (4.9%) cases of PE including 202 (4.3%) term and 30 (0.6%) preterm PE. PlGF was associated with the risk of term (AUC = 0.61, 95% confidence interval [CI] 0.57-0.65) and preterm PE (AUC = 0.73, 95% CI 0.64-0.83). The models were improved with the addition of maternal characteristics (AUC for term PE 0.66, 95% CI 0.62-0.71; AUC for preterm PE 0.81, 95% CI 0.72-0.91; p < 0.01). At a false-positive rate of 10%, PlGF combined with maternal characteristics could have predicted 26% of term and 55% of preterm PE. The addition of pregnancy-associated plasma protein A did not significantly improve the prediction models.Conclusion: First-trimester PlGF combined with maternal characteristics is useful to predict preterm PE in nulliparous women. [ABSTRACT FROM AUTHOR]

This article reviews the objectives of combination biochemical screening of unfavorable outcomes of pregnancy in trimester I. The characterization of prenatal screening markers is given, for example, β-hCG (beta-human chorionic gonadotropin) and РАРР-А (pregnancy-associated plasma protein A). The international and national approaches to the algorithm of carrying out of prenatal screening and conceptualization about prediction of pregnancy complications based on results of biochemical screening of serum concentrations of β-hCG and PAPP-A, are reviewed

There are currently four countries and one local region in Europe that use PAP in their newborn screening programme. The first country to employ PAP at a national level was the Netherlands, which started using IRT/PAP/DNA/EGA in 2011. Germany followed in 2016 with a slightly different IRT/PAP/DNA strategy. Portugal also started in 2016, but with an IRT/PAP/IRT programme, and in 2017, Austria changed its IRT/IRT protocol to an IRT/PAP/IRT program. In 2018, Catalonia started to use an IRT/PAP/IRT/DNA strategy. The strengths of PAP are the avoidance of carrier detection and a lower detection rate of CFSPID. PAP seems to have advantages in detecting CF in ethnically-diverse populations, as it is a biochemical approach to screening, which looks for pancreatic injury. Compared to an IRT/IRT protocol, an IRT/PAP protocol leads to earlier diagnoses. While PAP can be assessed with the same screening card as the first IRT, the second IRT in an IRT/IRT protocol requires a second heel prick around the 21st day of the patient’s life. However, IRT/PAP has two main weaknesses. First, an IRT/PAP protocol seems to have a lower sensitivity compared to a well-functioning IRT/DNA protocol, and second, IRT/PAP that is performed as a purely biochemical protocol has a very low positive predictive value. However, if the advantages of PAP are to be exploited, a combination of IRT/PAP with genetic screening or a second IRT as a third tier could be an alternative for a sufficiently performing CF-NBS protocol.

The developing and under developed countries mostly rely on traditional medicines. This herbal or traditional medicine involves the use of different types of organic extracts or the bioactive chemical constituents. This type of biochemical investigation provides health care at an affordable cost. This survey such as ethnomedicine keenly represents one of the best avenues in searching new economic plants for medicines. Keeping this view in mind, the present study is carried out in Merremia borneensis leaves of University Malaysia Sabah, Sabah, Malaysia. The plant has several beneficial properties, such as antioxidant activity. The dry powder of the leaves of M. borneensis was extracted with hexane, ethyl acetate, chloroform, butanol and aqueous ethanol. The flavonoids content of the extracts was determined by Willet method. The flavonoids content of the extracts as quercetin equivalents was found to be highest in aqueous ethanol (53.28%) followed by chloroform (38.83%), ethyl acetate (24.51%), butanol (12.54%) and hexane extract (3.44%). The results suggest the presence of phytochemical properties in the leaves, which are used in curing the ailments.

N -glycanase deficiency (NGLY1 deficiency, NGLY1-CDDG), the first autosomal recessive congenital disorder of N-linked deglycosylation (CDDG), is caused by pathogenic variants in NGLY1 . The majority of affected individuals have been identified using exome or genome sequencing. To date, no reliable, clinically available biomarkers have been identified. Urine oligosaccharide analysis was included as part of a routine evaluation for possible biomarkers in patients with confirmed NGLY1-CDDG. During the qualitative review of oligosaccharide profiles by an experienced laboratory director an abnormal analyte with a proposed structure of Neu5Ac1Hex1GlcNAc1-Asn was identified in NGLY1-CDDG patient urine samples. The same species has been observed in profiles from individuals affected with aspartylglucosaminuria, although the complete spectra are not identical. Additional studies using tandem mass spectrometry confirmed the analyte's structure. In addition to the known NGLY1-CDDG patients identified by this analysis, a single case was identified in a population referred for clinical testing who subsequently had a diagnosis of NGLY1-CDDG confirmed by molecular testing. Urine oligosaccharide screening by MALDI-TOF MS can identify individuals with NGLY1-CDDG. In addition, this potential biomarker might also be used to monitor the effectiveness of therapeutic options as they become available. [ABSTRACT FROM AUTHOR]

The purpose of this study was to analyse the association between free beta hCG (fβhCG) increased levels and pregnancy complications (PC), foetal growth restriction (FGR) and preeclampsia (PE). This connection was evaluated in two stages (i) investigating the association between those PC with first trimester fβhCG and second trimester intact hCG (ihCG), and (ii) studying the association between these two analytes in the same pregnancy. This was a retrospective study in two settings: medical centre that provided data on fβhCG and ihCG levels in pregnancies with FGR and PE, and central laboratory that provided fβhCG and ihCG levels that were compared in the same pregnancy. No association was found between those PC and the hCG analytes, except for elevated ihCG levels and FGR. Elevated fβhCG (>3.00 MoM) was found in 570/16,849 (3.4%) women. However, only 14% of whom had elevated second trimester ihCG. A positive correlation was found between the magnitude of first trimester fβhCG levels and the percentage of women who had elevated second trimester ihCG. This association was determined by the magnitude of the elevation of fβhCG levels. Impact statement What is already known on this subject: The two analytes, first trimester fβhCG and second trimester ihCG, are independently produced and parameters of the biochemical screening during pregnancy. What the results of this study add: Referring to 3.00 MoM as cut-off levels, most pregnancies with elevated levels of first trimester fβhCG will have normal ihCG second trimester levels. What the implications are of these findings for clinical practice and/or further research: The risk of developing pregnancy complications, FGR and PE should be associated with second trimester ihCG levels. About 3.5% of women had high fβhCG levels during the first trimester. However, only 14% also had increased ihCG levels, defined as >3.00 MoM; additional studies are needed to explore the association between increased first trimester fβhCG levels and the risk of developing pregnancy complications, independent of ihCG levels in the second trimester. [ABSTRACT FROM AUTHOR]

Genetic association studies hinge on definite clinical case definitions of the disease of interest. This is why more penetrant mutations were overrepresented in early multiple endocrine neoplasia type 2 (MEN2) studies, whereas less penetrant mutations went underrepresented. Enrichment of genetic association studies with advanced disease may produce a flawed understanding of disease evolution, precipitating far-reaching surgical strategies like bilateral total adrenalectomy and 4-gland parathyroidectomy in MEN2. The insight into the natural course of the disease gleaned over the past 25 years caused a paradigm shift in MEN2: from the removal of target organs at the expense of greater operative morbidity to close biochemical surveillance and targeted resection of adrenal tumors and hyperplastic parathyroid glands. The lead time provided by early identification of asymptomatic MEN2 carriers under biochemical surveillance delimits a 'window of opportunity', within which (i) pre-emptive total thyroidectomy alone is adequate, circumventing morbidity attendant to central node dissection; (ii) subtotal 'tissue-sparing' adrenalectomy is sufficient, trading the risk of steroid dependency for the risk of a second pheochromocytoma in the adrenal remnant and (iii) parathyroidectomy is limited to enlarged glands, trading the risk of postoperative hypoparathyroidism for the risk of leaving behind hyperactive parathyroid glands. Future research should delineate further the mutation-specific, age-dependent penetrance of pheochromocytoma and primary hyperparathyroidism to refine the risk-oriented approach to MEN2. The sweeping changes in the management of MEN2 since the new millenium hold the hope that death and major morbidity from this uncommon disease can be eliminated in our lifetime. [ABSTRACT FROM AUTHOR]

The aim of this work is to investigate and compare the phytochemical screening, antioxidant and antimicrobial activities of different crude extracts from dry and fresh leaves of Datura metel L. Different organic solvents including methanol, chloroform, hexane, ethyl acetate and butanol were used to prepare the crude extracts from the fresh and dry leaves. Antioxidant and antimicrobial activities of different crude extracts from dry and fresh leaves of D. metel were determined by DPPH method and agar disc diffusion method with minor modification. In vitro phytochemical screening for all crude extracts from both dry and fresh leaves was tested and shown positive result for alkaloid, flavonoid, saponin and tannin compounds. However, all the crude extracts did not show positive results for steroids and triterpenoid compounds. The antioxidant activity results of both fresh and dry crude extracts showed that when gradually increasing the samples concentration there was an increase in the absorbance. Therefore the antioxidant activity of dry crude extracts as equivalent to DPPH (2, 2-diphenyl-1-picrylhydrazyl) was in the order of butanol > chloroform > ethyl acetate extract > methanol > hexane extract. However, the order of antioxidant activity for fresh organic crude extracts to DPPH was in order of methanol > hexane > chloroform > ethyl acetate extract > butanol. The methanol crude extract and its derived fractions from dry and fresh leaves showed small and moderate antibacterial potential with one gram positive (Staphylococcus aureus) and three gram negative(Escherichia coli, Klebsiella pneumoniae and Pseudomonas aeruginosa) bacteria in the range of 0–17%. In conclusion, all organic crude extracts from both fresh and dry leaves could be used as potential sources of new antioxidant and antimicrobial agents.

Objective: To determine the diagnostic accuracy of preeclampsia (PE) screening test offered in early pregnancy for the prediction of the risks for early-onset (requiring delivery <32 weeks gestation) and late-onset (requiring delivery ≥32 weeks gestation) disease.Methods: In a retrospective study of 615 women with singleton pregnancy, the risk for PE was calculated by the combined effect of multiple variables: serum placental growth factor (PLGF) and pregnancy-associated plasma protein-A (PAPP-A), maternal age, parity, ethnicity, mean arterial pressure (MAP), body mass index (BMI), uterine artery-pulsatility index, and previous history of PE or hypertension (HT). The results of the screening test in three different groups of women were validated by pregnancy outcome: (i) control group - without any history of PE/HT; (ii) history of PE without HT; and (iii) history of HT without PE. The performance of the screening test was evaluated for early- and late-onset PE.Results: The multivariate screening effectively identified cases of PE with >97% specificity. The detection rate (DR) was 93.8% for late-onset PE at a false positive rate (FPR) of 2.3% and 44.4% for early-onset PE at an FPR of 0.0%. The incidence of PE was 7% overall, with 1.52% and 5.43% for early- and late-onset PE, respectively.Conclusion: The study demonstrated 96.6% diagnostic accuracy of the multi-variable screening test to predict the risk of PE in the first trimester. The negative predictive value (>98%) reinforces the utility of cost-effective noninvasive screening test for the early detection of PE.Abbreviations: PLGF: Placental growth factor; PAPP-A: Pregnancy-associated plasma protein-A; free β-HCG: Free beta-human chorionic gonadotropin; BMI: Body mass index; MAP: Mean arterial blood pressure; Ut-PI: Mean uterine artery pressure (left and right uterine artery)-pulsatility index; MoM: Multiple of median; NICE: National Institute for Health and Clinical Excellence. [ABSTRACT FROM AUTHOR]

Early diagnosis of gestational hypertensive disorders can effectively reduce fetal-maternal mortality and morbidity. This study was designed to assess three screening methods including uterine artery Doppler ultrasound, mean arterial blood pressure (MAP), and maternal serum PAPP-A in the first trimester for predicting gestational hypertensive disorders. This was a prospective and observational study which conducted on the 300 singleton pregnant women at 11-13 weeks. All patients underwent three screening methods including UA-PI, MAP, and PAPP-A. Characteristics information and medical history of all cases were recorded. All participants were followed during pregnancy to detect any occurrence of hypertensive disorders. From 300 singleton pregnant women, 26 (8.7%) cases showed hypertensive disorders which6 (2%) cases had early preeclampsia (before 34th weeks), 9 (3%) cases had late preeclampsia (after 34th weeks), and 11 (3.7%) cases had GHTN. Comparison between preeclampsia and GHTN groups with normal pregnant women showed that MAP and UA- PI increased, while PAPP-A decreased. The cut-off point of 2.35 in uterine PI showed specificity of 93.9% and sensitivity of 83% in predicting early PE. While the cut-off point of 2.1 had specificity of 83.7% and sensitivity of 100%. Finally, according to our results the cut-off point of 2.1 for UA-PI had the highest sensitivity in predicting hypertensive disorders and PAPP-A had lower efficiency. Combination of UA-PI, MAP, and PAPP-A was useful screening methods for predicting hypertensive disorders especially early preeclampsia in the first trimester. [ABSTRACT FROM AUTHOR]

Aim: The objective of this study was to determine the ability of biochemical analytes to identify adverse outcomes in pregnancies with Turner syndrome. Methods: Maternal serum and amniotic fluid (AF) marker concentrations were measured in 73 singleton pregnancies with Turner syndrome (10-22 weeks of gestation). Fetal Turner syndrome was definitively established by cytogenetic analysis. Two subgroups, fetuses with hydrops fetalis versus fetuses with cystic hygroma, were compared. Receiver operating characteristic curves and relative risk were established for a cut-off multiples of the median ≥3.5 for β-subunit of human chorionic gonadotropin (hCG) or AF alpha-fetoprotein (AFP). Results: Forty-nine (67%) of 73 pregnant women had an abnormal maternal serum. While levels of pregnancyassociated plasma protein-A and free β-subunit (fβ)-hCG were not different to those of the control group, AFP, unconjugated estriol and β-hCG concentrations were significantly different in the study group (P<0.05), when compared to those of unaffected pregnancies. Levels of β-hCG in pregnancies with hydrops fetalis were significantly higher than in those with cystic hygroma (P <0.0001), as were AF-AFP concentrations (P <0.0015). In addition, abnormalities in both maternal serum β-hCG and AF-AFP predicted fetal death. The relative risk of adverse obstetric outcome was 10.667 (P=0.0004; 95% confidence interval [CI]: 1.554-73.203) for β-hCG and 2.19 (P=0.0256; 95% CI: 1.001 to 4.779), for AF-AFP. Conclusion: Maternal serumβ-hCG and AF-AFP levelsmay preferentially identify those Turner syndrome pregnancies with the highest risk of fetal death. [ABSTRACT FROM AUTHOR]

Introduction: Transient ischaemic attack (TIA) clinics are important for secondary prevention of fatal or disabling stroke. Non-adherence to prescribed medications is an important reason for treatment failure but difficult to diagnose. This study ascertained the utility of a novel biochemical tool in the objective biochemical diagnosis of non-adherence.Methods: One-hundred consecutive urine samples collected from patients attending the TIA clinic, at a tertiary centre, were analysed for presence or absence of prescribed cardiovascular medications using liquid chromatography-mass spectrometry (LC-MS/MS). Patients were classified as adherent or non-adherent, respectively. Demographic and clinical characteristics were compared between the two cohorts. Univariate regression analyses were performed for individual variables and model fitting was undertaken for significant variables.Results: The mean duration of follow-up from the index event was 31 days [standard deviation (SD): 18.9]. The overall rate of non-adherence for at least one medication was 24%. In univariate analysis, the number of comorbidities [3.4 (SD: 1.9) vs. 2.5 (1.9), P = 0.032] and total number of all prescribed medications [6.0 (3.3) vs 4.4 (2.1), P = 0.032] were higher in the non-adherent group. On multivariate analysis, the total number of medications prescribed correlated with increased non-adherence (odds ratio: 1.27, 95% Confidence Intervals: 1.1-1.5, P = 0.01).Conclusions: LC-MS/MS is a clinically useful tool for the diagnosis of non-adherence. Nearly a quarter of TIA patients were non-adherent to their cardiovascular medications Addressing non-adherence early may reduce the risk of future disabling cardiovascular events. [ABSTRACT FROM AUTHOR]

Kunitz trypsin inhibitor (KTI), a major anti-nutritional factor present in soybean seed, is a major bottleneck in industrial use of soybean and public acceptance of soybean food products. Biochemical screening for trypsin inhibitor content was carried out in 145 genotypes of soybean comprising exotic collections and released varieties. The trypsin inhibitor content ranged from 14.15 to 186.27 mg g-1 of seed meal. Lowest level of trypsin inhibitor content was observed in genotype PI542044, (14.15 mg g-1 seed meal). Popular Indian soybean varieties viz., JS335, JS9305, NRC37, NRC7, PK1225, DS9712, JS9752, and DS9814 contained higher level of trypsin inhibitor. Heat treatment was able to reduce the TI content but to certain level leaving about 20% residual activity. The study indicated the need for other ways to create genotypes with reduced KTI for use in breeding program. [ABSTRACT FROM AUTHOR]

The developing and under developed countries mostly rely on traditional medicines. This herbal or traditional medicine involves the use of different types of organic extracts or the bioactive chemical constituents. This type of biochemical investigation provides health care at an affordable cost. This survey such as ethnomedicine keenly represents one of the best avenues in searching new economic plants for medicines. Keeping this view in mind, the present study is carried out in Merremia borneensis leaves of University Malaysia Sabah, Sabah, Malaysia. The plant has several beneficial properties, such as antioxidant activity. The dry powder of the leaves of M. borneensis was extracted with hexane, ethyl acetate, chloroform, butanol and aqueous ethanol. The flavonoids content of the extracts was determined by Willet method. The flavonoids content of the extracts as quercetin equivalents was found to be highest in aqueous ethanol (53.28%) followed by chloroform (38.83%), ethyl acetate (24.51%), butanol (12.54%) and hexane extract (3.44%). The results suggest the presence of phytochemical properties in the leaves, which are used in curing the ailments. [ABSTRACT FROM AUTHOR]

We evaluated RAPIDEC® CARBA NP, Neo-Rapid CARB, chromID® CARBA SMART (CARB/OXA), Brilliance™ CRE/ESBL, ChromArt CRE and BBL™ CHROMagar™ CPE for the detection of carbapenemase-producing bacteria. The analytical sensitivity of RAPIDEC® CARBA NP was better than that of Neo-Rapid CARB. A combination of carbapenemase and ESBL screening plates could be advantageous. [ABSTRACT FROM AUTHOR]

Abstract: The aim of this work is to investigate and compare the phytochemical screening, antioxidant and antimicrobial activities of different crude extracts from dry and fresh leaves of Datura metel L. Different organic solvents including methanol, chloroform, hexane, ethyl acetate and butanol were used to prepare the crude extracts from the fresh and dry leaves. Antioxidant and antimicrobial activities of different crude extracts from dry and fresh leaves of D. metel were determined by DPPH method and agar disc diffusion method with minor modification. In vitro phytochemical screening for all crude extracts from both dry and fresh leaves was tested and shown positive result for alkaloid, flavonoid, saponin and tannin compounds. However, all the crude extracts did not show positive results for steroids and triterpenoid compounds. The antioxidant activity results of both fresh and dry crude extracts showed that when gradually increasing the samples concentration there was an increase in the absorbance. Therefore the antioxidant activity of dry crude extracts as equivalent to DPPH (2, 2-diphenyl-1-picrylhydrazyl) was in the order of butanol>chloroform>ethyl acetate extract>methanol>hexane extract. However, the order of antioxidant activity for fresh organic crude extracts to DPPH was in order of methanol>hexane>chloroform>ethyl acetate extract>butanol. The methanol crude extract and its derived fractions from dry and fresh leaves showed small and moderate antibacterial potential with one gram positive (Staphylococcus aureus) and three gram negative(Escherichia coli, Klebsiella pneumoniae and Pseudomonas aeruginosa) bacteria in the range of 0–17%. In conclusion, all organic crude extracts from both fresh and dry leaves could be used as potential sources of new antioxidant and antimicrobial agents. [Copyright &y& Elsevier]

Abstract: Background: In recent years different IRT/PAP protocols have been evaluated, but the individual performance remains unclear. To optimize the IRT/PAP strategy we compared protocols from three regional CF newborn screening centers (Heidelberg, Dresden, and Prague). Methods: We evaluated the effect of elevating the IRT-cut-off from 50 to 65μg/l (~97.5th to ~99.0th percentile), the need of a failsafe protocol (FS, IRT≥99.9th percentile) and the relative performance using either two IRT-dependent PAP-cut-offs or one PAP-cut-off. Findings: Elevation of the IRT cut-off to 65μg/l (~99.0th percentile) increased the PPV significantly (Dresden: 0.065 vs. 0.080, p<0.0001, Prague: 0.052 vs. 0.074, p<0.0001) without reducing sensitivity. All three IRT/PAP protocols showed a trend towards a higher sensitivity with FS than without and when using one PAP-cut-off instead of two IRT-dependent PAP-cut-offs. Conclusions: For best performance we suggest an IRT/PAP protocol with an IRT-cut-off close to the 99.0th percentile, FS, and a single PAP-cut-off. [Copyright &y& Elsevier]

Objective To compare the efficacy of fetal nuchal translucency screening, maternal serum screening and combined screening for Down syndrome. Design A prospective study. Setting University hospital and its public health care district in Northern Finland. Population A total of 35 314 women participated in the first-trimester screening for Down syndrome within the public healthcare system in 2002-08. There were 95 pregnancies involving Down syndrome. Serum samples were obtained from 35 314 women, nuchal translucency was measured in 27 144 pregnancies and full combined screening was performed in those pregnancies, including 76 involving Down syndrome. Methods The adjusted estimated risk for Down syndrome was calculated using the Perkin Elmer Auto DELFIA® time-resolved fluoroimmunoassay kit for the measurement of pregnancy-associated plasma protein-A and free β-human chorionic gonadotropin. Nuchal translucency was measured by trained personnel in a university or district hospital. Risk cut-off figures 1:250 and 1:300 at term were used. Main outcome measures Differences in detection rate, false-positive rate, positive and negative predictive values between nuchal translucency screening, serum screening and combined screening. Results Using the risk cut-off figure 1:250, the detection rates for serum screening, nuchal translucency screening and combined screening were 64.2, 64.5 and 72.4%, respectively and the false-positive rates were 7.8, 4.4 and 4.0%, respectively. Conclusions Combined screening is the method of choice for Down syndrome screening in Finland. [ABSTRACT FROM AUTHOR]

Purpose: Calcitonin screening aims at uncovering occult medullary thyroid cancer (MTC) in patients with nodular thyroid disease. Elevated basal calcitonin serum levels call for calcitonin stimulation, the level of which may direct the extent of surgery. Because pentagastrin has become restricted, calcium has increasingly been used instead for stimulation. This study identified a new spectrum of patients demonstrating a false-positive hypercalcitoninemia in the absence of C-cell disease, carrying multinodular goiter (MNG), thyroiditis, and non-MTC thyroid malignancy, and endeavored to explore the feasibility of extrapolating pentagastrin-stimulated to calcium-stimulated calcitonin thresholds. Methods: Altogether, 43 (9.5 %) of 455 patients with nodular thyroid disease revealed increased basal calcitonin serum levels between 2005 and 2012, for which they underwent intravenous stimulation with pentagastrin (31 patients) or calcium gluconate (12 patients) before and after primary thyroidectomy. Results: Stimulation with calcium gluconate resulted in significantly higher and more variable preoperative calcitonin serum levels after 2 (241.2 vs. 104.9 pg/mL; P = 0.018) and 5 min (240.6 vs. 87.4 pg/mL; P = 0.007) than stimulation with pentagastrin. Stimulation with calcium gluconate produced 10-fold (nodular goiter), 15-fold (thyroiditis), and 21-fold (thyroid neoplasia other than MTC) calcitonin increases over baseline, as opposed to 5-fold, 10-fold, and 8-fold increases after stimulation with pentagastrin. None of the 43 patients, all of whom reverted to undetectable calcitonin serum levels after thyroidectomy, had immunohistochemical evidence of C-cell disease. Subgroup analyses according to gender and thyroid disease, being limited by the low number of patients in each subgroup, did not yield significant differences. Conclusions: Calcium stimulation yields significantly greater calcitonin levels than pentagastrin stimulation, precluding generalization of pentagastrin-stimulated to calcium-stimulated calcitonin thresholds. After calcium stimulation, false-positive findings appear to be more common in patients of female gender and patients with thyroiditis and thyroid neoplasia other than MTC, potentially effecting surgical overtreatment. [ABSTRACT FROM AUTHOR]

Aneuploidies are a major cause of perinatal morbidity and mortality. Therefore, it is the most common indication for invasive prenatal diagnosis. Initially, screening for aneuploidies started with maternal age risk estimation. Later on, serum testing for biochemical markers and ultrasound markers were added. Women detected to be at high-risk for aneuploidies were offered invasive testing. New research is now focusing on non-invasive prenatal testing using cell-free fetal DNA in maternal circulation. The advantage of this technique is the ability to reduce the risk of miscarriage associated with invasive diagnostic procedures. However, this new technique has its own set of technical limitations and ethical issues at present and careful consideration is required before broad implementation [ABSTRACT FROM AUTHOR]

The biomass degrading enzymatic potential of 101 thermophilic bacterial strains isolated from a volcanic environment (Santorini, Aegean Sea, Greece) was assessed. 80 % of the strains showed xylanolytic activity in Congo Red plates, while only eight could simultaneously hydrolyze cellulose. Fifteen isolates were selected on the basis of their increased enzyme production, the majority of which was identified as Geobacilli through 16S rDNA analysis. In addition, the enzymatic profile was evaluated in liquid cultures using various carbon sources, a procedure that revealed lack of correlation on xylanase levels between the two cultivation modes and the inability of solid CMC cultures to fully unravel the cellulose degrading potential of the isolates. Strain SP24, showing more than 99 % 16S DNA similarity with Geobacillus sp. was further studied for its unique ability to simultaneously exhibit cellulase, xylanase, β-glucosidase and β-xylosidase activities. The first two enzymes were produced mainly extracellularly, while the β-glycosidic activities were primarily detected in the cytosol. Maximum enzyme production by this strain was attained using a combination of wheat bran and xylan in the growth medium. Bioreactor cultures showed that aeration was necessary for both enhanced growth and enzyme production. Aeration had a strong positive effect on cellulase production while it negatively affected expression of β-glucosidase. Xylanase and β-xylosidase production was practically unaffected by aeration levels. [ABSTRACT FROM AUTHOR]

Purpose: Emanuel syndrome is a rare chromosomal disorder characterized by severe mental retardation and multiple anomalies. The syndrome is caused by chromosomal imbalance due to a supernumerary derivative chromosome 22. Little is known regarding the characteristics of prenatal biochemical screening, or ultrasonographic markers in this syndrome. We aimed to identify a prenatal screening pattern characteristic of Emanuel Syndrome. Methods: We report the prenatal characteristics of five fetuses with Emanuel syndrome, four of which were diagnosed prenatally. Results: We found no consistent pattern of prenatal biochemical markers or other prenatal characteristics. Nevertheless, increased NT, low PAPP-A and ultrasound features such as intra uterine growth restriction, posterior fossa, cardiac and bowel abnormalities may be helpful in raising the suspicion for this rare genetic syndrome. Conclusion: Review of the biochemical screening results, ultrasound findings, and demographic characteristics of this Emanuel syndrome case series, as well as of the relevant literature fail to suggest a characteristic prenatal pattern. [ABSTRACT FROM AUTHOR]

The aim of this article is to give an overview of current status of worldwide discussion of effectivness of Down's syndrome screeening programs. This article explaines structure of basic screening strategies and review of their published evidence. In this article screening tests of the first trimester (combined test with or without new sonographic markers), the second trimester (quadruple, triple and double test) and tests which combine markes of the first trimester with markers of the second trimester (integrated test, sequential test and contingent tests) are discussed. Arguments supporting current trend to perform screening in the first trimester with combination ultrasound and biochemical markers of the first trimester are discussed. [ABSTRACT FROM AUTHOR]

Now a day the importance of medicinal plants has been increasing both for pharmaceutical industry and traditional users. Most of the countries either it is developing and under developing mostly rely on traditional medicines. This herbal or traditional medicine involves the use of different type organic extracts or the bioactive pure chemical constituents. This type of biochemical investigation provides the health application at minimum cost. This survey such as ethnomedicine keenly represents one of the best avenues in searching new economic plants for medicine. Keeping this view in mind, the present study is carried out in Corydyline terminalis L. Kunth leaves collected from rainforest area at Sabah state, Malaysia. This plant has several beneficial properties. The powder leaves of Corydyline terminalis L. Kunth was extracted with organic solvent such as hexane, ethyl acetate, chloroform, butanol and methanol. The total phenolic contents of the extracts was determined by Willet method with modification. The results for total flavonoids content of the extracts as caffeic acid equivalents were found to be highest in hexane extract (68.02%) followed by ethyl acetate (61.50%), methanol (39.27%), butanol (19.08%) and chloroform (15.75%). Based on these results it can be suggested that the biochemical properties of the leaves for curing various ailments. [ABSTRACT FROM AUTHOR]

Abstract: Synthesis and biochemical inhibition studies of a novel transition state analog inhibitor of guanase bearing the ring structure of azepinomycin have been reported. The compound was synthesized in five-steps from a known compound and biochemically screened against the rabbit liver guanase. The compound exhibited competitive inhibition profile with a K i of 16.7±0.5μM. [ABSTRACT FROM AUTHOR]

Objective: To determine the relative contribution of nuchal translucency (NT) to the biochemical detection rates of combined screening for trisomies 13 and 18 in two healthcare systems practicing different quality-control systems of nuchal measurement. Methods: De-identified data collected from the Fetal Medicine Foundation in the United Kingdom and laboratory data from NTD laboratories in the United States were compared for detection rate and false-positive rate (FPR) for combined trisomies 13 and 18 screening and were subcategorized by biochemical only and biochemistry combined with NT measurement. Results: US and UK biochemical detection rates were virtually identical: 83% for a FPR of 1.8%. When NT measurement was added, the US rate increased to 88% for a 0.7 FPR, but in the UK the rate increased to 94% for a FPR of 0.3%. The mean NT was 1.69 mm in the US and 2.82 mm in the UK. Conclusions: NT measurement as practiced in the UK system with tight quality control significantly increased the detection rate and significantly reduced the FPR of combined screening for trisomies 13 and 18, when compared to the US with apparently less rigid quality control. Copyright © 2010 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Ever since the description of Down syndrome by John Langdon Down in 1866, attempts have evolved for its screening, with considerable controversy concerning the preferred method of detection in early fetal life. Until recently, identification of women at high risk was mainly based on maternal age. Screening efficacy improved with the introduction of measuring the feto-placental hormone levels in maternal serum. Ultrasound examination then made it possible to visualize certain features of Down syndrome as early as the third month of life. These three factors provided the backbone of screening for the syndrome in the first trimester of the second trimester and, sometimes, by the integration of factors from both trimesters. These advances have complicated screening but provided patients with more options and improved evaluation prior to being offered invasive diagnostic procedures. This article reviews the different screening strategies for fetal Down syndrome as well as providing an update on its recent advances. [ABSTRACT FROM AUTHOR]

Biochemical and ultrasound methods for risk adjustment of fetal aneuploidy have replaced maternal age as the mainstay of prenatal care. This development has been accompanied by much confusion and inconsistent results. However, the totality of available data support the conclusion that, as of 2007, optimal biochemical detection can be achieved in the first trimester using free β-human chorionic gonadotropin and pregnancy-associated plasma protein-A, and for greater sensitivity the biochemistry needs to be combined with ultrasound nuchal translucency measurement. Even better results might be obtained by testing women sequentially in both trimesters, but this approach has the disadvantage of delaying diagnosis for many women. An alternative, in appropriately trained centers, is to carry out sequential testing within the first trimester using nasal bone determination and other secondary ultrasound markers to complement nuchal translucency measurements. [ABSTRACT FROM AUTHOR]