Miracle-dz/UniFAR-FTUs huggingface dataset:
By 2020…

By 2020, there will have been at least three paradigm shifts in the fields of preimplantation and prenatal genetics—all contributing to making possible the ultimate goal of medical science, namely, ‘personalized medicine’. In its most simple denotation, personalized medicine comprises the diagnosis, prevention and treatment of disease. Personalized medicine projects a promise of unparalleled control of one’s health and therein one’s future and, ultimately, one’s offspring. By 2020, epigenomics—the study of how chemical modifications to genes that result from diet, aging, stress or environmental exposures contribute to specific human diseases and biological processes—will be a reality, replacing such archaic approaches as genetics and genomics and will be applied to the zygote, to the preimplantation embryo, and to the embryo and fetus (Cho et al., 2007; Waggoner, 2007; Suzuki and Bird, 2008). At the completion of the Human Epigenome Project (www.epigenome.org), in which the regulatory regions of all known genes in all major cell types and their disease variants will have been analyzed, epigenetic mechanisms will be determined to play a critical role in the developmental origins of health and disease (Bradbury, 2003; Mehler, 2008). Moreover, environmental influences on epigenetics will be most important during prenatal and early postnatal development, when epigenetic mechanisms undergo establishment and maturation. The biologic mechanisms underlying the ‘developmental origins hypothesis’ (Waterland and Michels, 2007; Nafee et al., 2008) will be completely understood, and strategies to identify causal associations between early exposures, long-term changes in epigenetic regulation and disease will enable specific and personalized early-life interventions. By optimizing each individual’s health care through epigenomics, it is anticipated that over the next several decades, unparalleled improvements in human health in terms of quality of life, as well as longevity, will also become a reality. By 2020, prevention of chromosome abnormalities such as Down, Turner and Klinefelter syndromes will
Preimplantation genetic diagnosis in Saudi Arabia: parents' experience and attitudes

Preimplantation genetic diagnosis (PGD) has been proposed as an alternative to prenatal diagnosis (PND). This study compares the attitudes towards PGD of four groups of parents in Saudi Arabia: two groups at genetic risk for different conditions but with no experience of PGD procedures and two groups who had experience, either of PGD or of in vitro fertilisation (IVF) for infertility.
Performance of first‐trimester serum screening for trisomy 21 before and from 11 + 0 weeks of gestational age in The Netherlands

Down syndrome (DS) is associated with increased maternal age, increased fetal nuchal translucency (NT), decreased maternal serum concentrations of pregnancyassociated plasma protein A (PAPP-A) and increased maternal serum concentrations of free β subunit of human chorionic gonadotrophin (fβ-hCG). These parameters are all part of the first-trimester combined test which is a well established non-invasive method to identify pregnancies at risk for DS and which is carried out routinely in several countries (Ekelund et al., 2008; Driscoll et al., 2009; Wortelboer et al., 2009). Maternal serum is collected between 8 + 0 and 13 + 6 weeks of gestational age (GA). The NT is measured at a crownrump length (CRL) between 45 and 84 mm, which corresponds to 11 + 0 to 13 + 6 weeks of GA. The detection rate (DR) of the first-trimester combined test ranges from 64 to 87% with a 5% false-positive rate (FPR) (Malone et al., 2005). In The Netherlands first-trimester screening is performed since 2002 and recent reports show a DR of 76% for a FPR of 3.3% at a cut-off risk of 1 in 250 at term (Wortelboer et al., 2009). A recent study of Kirkegaard et al. reported a firsttrimester DR of 100% if serum was collected before 10 weeks of gestation compared to a DR of 77% when the serum was obtained at or after 10 + 0 weeks (Kirkegaard et al., 2008). Here we present a similar study to investigate whether the timing of serum collection has an effect on the screening performance of the first-trimester combined test in The Netherlands, to possibly improve its performance. The Dutch National Institute for Public Health and the Environment (RIVM) is the major DS screening centre in The Netherlands. Currently, the RIVM processes about 10 500 first-trimester combined screening
A novel approach toward the challenge of accurately quantifying fetal DNA in maternal plasma

Recent developments in the non-invasive prenatal diagnosis of fetal genetic disease have utilized digital methods for both allelic ratio determination and copy number analysis for the detection of aneuploidy (Lo et al., 2007; Chiu et al., 2008; Chu et al., 2009). A related and significantly more challenging goal is the use of such methods for the diagnosis of monogenic disorders caused by recessive mutations that segregate in a Mendelian fashion (Lun et al., 2008b). A requirement for accurate fetal genotyping via digital PCR or DNA sequencing is the measurement of fetal DNA frequency in maternal plasma (Lun et al., 2008a). This enables accurate statistical interpretation of the resulting data and is particularly important when allelic ratio determination is required, for example, when diagnosing monogenic Mendelian disorders. In particular, the knowledge of fetal DNA frequency in maternal plasma is critical in determining the accuracy of the diagnosis. Ideally, methods to determine this information should function in a gender-independent fashion. We therefore present a novel and highly accurate approach to the measurement of fetal DNA concentrations in maternal plasma based upon the parallel targeted sequencing of multiple paternally inherited polymorphic biallelic markers. For a single nucleotide polymorphism (SNP) where the mother is homozygous with genotype AA and the fetus is heterozygous with genotype AB, the expected count of allele B in a DNA sample extracted from maternal plasma is the total count of both A and B multiplied by one half of the percentage of fetal DNA. In theory, with a highly accurate method and a large sample, we can estimate the fetal frequency by sequencing DNA fragments carrying a single SNP that is homozygous in the mother and heterozygous in the fetus. In practice, however, we have to sequence multiple
Deep vein thrombosis of the lower limbs: A retrospective analysis of doppler ultrasound findings

Background: Deep venous thrombosis (DVT) of lower limbs is one of the most common cause for the majority of deaths caused by pulmonary embolism. Many medical and surgical disorders are complicated by DVT. Most venous thrombi are clinically silent. B-mode and color Doppler imaging is needed for early diagnosis of DVT to prevent complications and sequalae of DVT. Aim and Objectives: The objectives of the following study were to evaluate the role of Doppler as an imaging modality in diagnosing DVT of lower limbs, to study the spectrum of findings on Doppler ultrasound in patients with DVT. Materials and Methods: Retrospective descriptive analysis of 78 patients of DVT diagnosed on Doppler. Results: Nearly 74% of the patients were males and 26% were females with majority belonging to fifth decade (26%). 75 (96.1%) cases showed unilateral while 3 (3.9%) cases showed bilateral lower limb involvement. In our study, predominant distribution of thrombus was found to be in above knee region with 69/78 (88.5%) patients having thrombus in the superficial femoral vein. Popliteal vein was involved in 54/78 (69.2%) patients. Complete thrombosis was observed in 54/78 (69%) cases, while partial thrombosis was observed in 24/78 (31%) cases. Subacute stage was seen in 42 cases (53.8%), acute stage in 23 cases (29.5%) while chronic stage in 13 cases (16.7%). 71 cases (91%) had multiple contiguous segmental involvement, whereas 7 cases (9%) had isolated vein involvement. Conclusion: Color Doppler is useful in diagnosing DVT in symptomatic and at risk patients and provides a non-invasive method of investigation. It is also helpful in evaluating the site, extent and stage of thrombus.
Quantitative and qualitative morphologic, cytochemical, and ultrastructural characteristics of blood cells in captive Asian water monitors.

BACKGROUND The Asian water monitor (Varanus salvator) is the most common monitor lizard in Thailand. Reported data regarding hematology and morphology of blood cells for this species are scarce. OBJECTIVES The objective of this study was to assess routine hematologic variables and characterize the morphology, cytochemical staining, and ultrastructural features of blood cells in the Asian water monitor. METHODS Blood samples from 55 monitors (22 males and 33 females) were obtained for a CBC. Cytochemical staining (Sudan black B [SBB], peroxidase [PO], α-naphthyl acetate esterase [ANAE], and beta-glucuronidase [BG]), and scanning and transmission electron microscopy were performed using standard methods. RESULTS Determined mean (range) hematologic results of all monitors included PCV 0.32 L/L (0.20-0.44 L/L), HGB 106 g/L (62-157 g/L), WBC 15.9 × 10(9) /L (4.0-34.0 × 10(9) /L), heterophil 6.3 × 10(9) /L (1.5-17.1 × 10(9) /L, azurophil 2.6 × 10(9) /L (0.7-9.5 × 10(9) /L), basophil 0.1 (0.1-0.5 × 10(9) /L), lymphocyte 6.8 × 10(9) /L (0.5-13.1 × 10(9) /L), and monocyte 0.2 × 10(9) /L (0.04-1 × 10(9) /L) counts. Heterophils and basophils stained strongly positive with SBB, ANAE, and BG. Heterophils contained 2 types of granules, round SBB-positive and PO-negative granules, and electron-dense, large rod-shaped granules. Gamonts of Hepatozoon sp. were found in <1% RBC of 43 monitors. There was no significant difference between hematologic variables in Hepatozoon-positive and -negative monitors. CONCLUSION Heterophils in Asian water monitors may also function as eosinophils based on cytochemical and ultrastructural features. The quantitative results may be used as base for further studies in healthy and diseased Asian water monitors.
Comparison of the platelet-rich plasma and buffy coat protocols for preparation of canine platelet concentrates.

BACKGROUND Platelet (PLT) concentrates (PC) can be produced via the buffy coat (BC) or platelet-rich plasma (PRP) protocols. The 2 methods have not been compared with canine blood. OBJECTIVES The aims of the study were to compare the PLT, WBC, and RBC concentrations, in vitro PLT function, and markers of platelet storage lesion (PSL) in canine PC generated by 2 different protocols, and determine microbial growth throughout storage. METHODS PC from 8 healthy donor dogs were produced using 2 standard protocols, PRP and BC. PLT, WBC, and RBC counts, optical aggregometry assays, and PSL markers (pH, pCO2 , HCO3 , lactate and glucose concentrations, and LDH activity) were determined on storage days 0, 1, 3, 5, and 7. Aerobic and anaerobic bacterial cultures were also performed. RESULTS Mean PLT counts were comparable between protocols and remained stable throughout storage up to day 7, while median WBC and RBC counts on day 0 were significantly higher in the BC-PC group (17,800 WBCs/μL; 195,000 RBCs/μL) than in the PRP-PC group (200 WBCs/μL; 10,000 RBCs/μL) (P = .012). In PRP-PC aggregometry, the median slope and amplitude in response to γ-thrombin and convulxin (+ ADP) were significantly decreased, and virtually absent in BC-PC during storage. PSL markers (lactate, LDH activity) were higher in BC-PC. Aerobic bacterial growth was observed in 2 PRP-PC and 1 BC-PC. CONCLUSIONS This in vitro study suggests that PRP-PC had lesser WBC and RBC contamination and superior PLT function compared with BC-PC. In vivo studies are required to address safety and efficacy of PRP-PC.
A one-dimensional coordination polymer based on Cd2O2 clusters: poly[aqua(μ3-4,4'-sulfonyldibenzoato)(3,4,7,8-tetramethyl-1,10-phenanthroline-κ(2)N,N')cadmium(II)].

In the title mixed-ligand metal-organic polymeric complex [Cd(C14H8O6S)(C16H16N2)(H2O)]n, the asymmetric unit contains a crystallographically unique Cd(II) atom, one doubly deprotonated 4,4'-sulfonyldibenzoic acid ligand (H2SDBA), one 3,4,7,8-tetramethyl-1,10-phenanthroline (TMPHEN) molecule and one water molecule. Each Cd(II) centre is coordinated by two N atoms from the chelating TMPHEN ligand, three O atoms from monodentate carboxylate groups of three different SDBA(2-) ligands and one O atom from a coordinated water molecule, giving a distorted CdN2O4 octahedral geometry. Single-crystal X-ray diffraction analysis reveals that the compound is a one-dimensional double-chain polymer containing 28-membered rings based on Cd2O2 clusters, with a Cd.Cd separation of 3.6889 (4) Å. These chains are linked by O-H.O and C-H.O hydrogen bonds to form a three-dimensional supramolecular framework. The framework is reinforced by π-π and C-O. π interactions.
MAGNAMOSIS IV: magnetic compression anastomosis for minimally invasive colorectal surgery

Background and study aims: MAGNAMOSIS forms a compression anastomosis using self-assembling magnetic rings that can be delivered via flexible endoscopy. The system has proven to be effective in full-thickness porcine small-bowel anastomoses. The aim of this study was to show the feasibility of the MAGNAMOSIS system in hybrid endoscopic colorectal surgery and to compare magnetic and conventional stapled anastomoses. Methods: A total of 16 swine weighing 35 – 50 kg were used following animal ethical committee approval. The first animal was an acute model to establish the feasibility of the procedure. The subsequent 15 animals were survival models, 10 of which underwent side-to-side anastomoses (SSA) and 5 of which underwent end-to-side (ESA) procedures. Time to patency, surveillance endoscopy, burst pressure, compression force, and histology were assessed. Histology was compared with conventional stapled anastomoses. Magnetic compression forces were measured in various anastomosis configurations. Results: Colorectal anastomoses were performed in all cases using a hybrid NOTES technique. The mean operating time was 71 minutes. Mean time to completion of the anastomosis was similar between the SSA and ESA groups. Burst pressure at 10 days was greater than 95 mmHg in both groups. One complication occurred in the ESA group. Compression force among various configurations of the magnetic rings was significantly different (P < 0.05). Inflammation and fibrosis were similar between magnetic SSA and conventional stapled anastomoses. Conclusion: MAGNAMOSIS was feasible in performing a hybrid NOTES colorectal anastomosis. It has the advantage over circular staplers of precise endoscopic delivery throughout the entire colon. SSA was reliable and effective. A minimum initial compression force of 4 N appears to be required for reliable magnetic anastomoses.
Carbon Nanotube Electron Sources: From Electron Beams to Energy Conversion and Optophononics

Carbon nanotubes have a host of properties that make them excellent candidates for electron emitters. A significant amount of research has been conducted on nanotube-based field-emitters over the past two decades, and they have been investigated for devices ranging from flat-panel displays to vacuum tubes and electron microscopes. Other electron emission mechanisms from carbon nanotubes, such as photoemission, secondary emission, and thermionic emission, have also been studied, although to a lesser degree than field-emission. This paper presents an overview of the topic, with emphasis on these less-explored mechanisms, although field-emission is also discussed. We will see that not only is electron emission from nanotubes promising for electron-source applications, but also its study could reveal unusual phenomena and open the door to new devices that are not directly related to electron beams.
Effects of preovulatory estradiol on uterine environment and conceptus survival from fertilization to maternal recognition of pregnancy†

Abstract Preovulatory estradiol is known to impact embryo quality and survival. The objective of this study was to determine the effects of preovulatory estradiol on the uterine environment and conceptus survival through maternal recognition of pregnancy. Beef cows/heifers were AIed following induced ovulation. Cows were grouped into high and low preovulatory estradiol. Conceptuses were collected on day 16 nonsurgically (Rep 1; n = 20), or following slaughter (Rep 2; n = 29). Blood was collected to determine plasma glucose concentrations, and uterine luminal fluid (ULF) was analyzed for protein, glucose, and interferon tau (IFNT) concentrations. Total cellular RNA was extracted from caruncular (CAR) and intercaruncular (INCAR) endometrial tissue. There was no effect of preovulatory estradiol on conceptus recovery rate (P = 0.38) or on apoptosis rate in the trophectoderm (P = 0.64). Cows in which a conceptus was recovered had greater concentrations of protein in the ULF (P = 0.04). Animals with elevated preovulatory estradiol had greater endometrial abundance of SLC2A1 (P = 0.05) and SLC5A1 (P = 0.04) in both INCAR and CAR tissue. Presence of a conceptus also tended to increase (P = 0.10) abundance of SLC5A1 in INCAR. In CAR tissue, cows with a conceptus had decreased SLC2A4 abundance (P = 0.05). In summary, conceptus recovery rates, apoptosis in the trophectoderm, IFNT, glucose, and protein concentration in ULF did not differ between cows that did or did not have an increase in preovulatory estradiol concentrations. Thus, there is no indication of increased conceptus survival to day 16 of pregnancy based on estradiol concentrations. Summary Sentence Conceptus survival to d 16 was similar among cows with and without elevated preovulatory estradiol; however, glucose transporter expression, and glucose and protein concentration in uterine fluids were influenced by estradiol and conceptus presence.
Early experience of the use of olanzapine across three rehabilitation services

Aims and method To monitor the effect of the introduction of olanzapine under naturalistic conditions to patients with severe and enduring mental illness in three rehabilitation services. Results Thirty patients were prescribed olanzapine during the first six months of its launch. Objective ratings were used. Six months later, one-third were no longer on treatment, one-third were unchanged and one-third had made useful clinical gains. Clinical implications Patients who have suffered from neurological or prolactin-related side-effects may benefit from treatment with olanzapine. Attitudes to treatment and adherence may improve.
Low 2‐methoxyestradiol levels at the first trimester of pregnancy are associated with the development of pre‐eclampsia

To determine whether maternal plasma levels of 2‐methoxyestradiol (2‐ME) are decreased early in pregnancies that subsequently develop pre‐eclampsia (PE) and whether this difference could be attributed to the presence of Val158Met catechol‐O‐methyltransferase (COMT) polymorphism in the placenta.
Aspectos nutricionais e ambientais da obesidade canina

Obesity is the most common nutritional disease in dogs and may cause many changes in body systems and limit the longevity of the animals. Many factors contribute to the development of obesity in dogs, as genetics, breed, age, lack of physical activity, caloric food composition, type and form of nutrition, hormonal disorders, medicine, and factors related to the owners. Due to the lack of studies on the nutritional and environmental aspects involved in the development of canine obesity, the present study aimed to obtain information through owners surveys. Interviews with 254 owners of overweight or obese dogs were conducted at University Veterinary Hospitals. Dogs were selected through body condition score (BCS) from 6 to 9, according to the scale described by LAFLAMME (1997). The data were coded, tabulated and submitted to frequency analysis and correlation (Spearman Test). Most affected dogs were castrated adult female of mixed breeds (33%) or poodles (17%). For most respondents (36%), food excess was the possible reason for the weight gain of pets. Only half of the owners have tried to achieve weight control of their pet, especially reducing the amount of food. There was no correlation between body condition of the owner, educational level, family income and home environment of the owners with pets BCS. Information obtained may help identifying nutritional and environmental factors involved in the development of obesity in dogs and can provide better preventive measures and strategies for treatment
Study on Sodium Modification of Inferior Ca-Based Bentonite by Suspension Method

Hunyuan Ca-based bentonite is one of large-type bentonite deposits in China, the reserve of which is more than 0.15 billion tons. However, they are not completely utilized in the pellet production. Process mineralogy investigation shows that the bentonite is a kind of typical Ca-bentonite (Ca-Bent). The sodium modification of the sample is studied by suspension method in this study. Results present the alkali coefficient K of modified Na-bentonite that is increased from 0.34 to 1.33, and the 2HWA, dilation, and colloid index are, respectively, increased to 601%, 32.4 mL/g and 87.6 mL/(3 g) under optimal conditions of Na2CO3 dosage 3.0%, pulp density 20%, sodium temperature 55°C, and sodium time 0.5 h. The XRD patterns show that d(001) of the sample bentonite is reduced from 1.5539 nm down to 1.2467 nm, and 2θ(001) of the sample bentonite is increased from 5.6875° to 7.0907°, indicating that the sample Ca-Bent is effectively modified into Na-Bent.
Results of Long-Term Therapy with Growth Hormone in Two Dose Regimens in Turner Syndrome

Girls with Turner syndrome were divided according to age (group A 6-12 years, and group B 12-19 years) and human growth hormone (GH) dose regimen (Al and Bl, three injections/week; A2 and B2, six injections/week). All groups responded to GH, 24 IU/m2/week, with an increase in height velocity, though in the older girls, the response was comparatively poor. Therefore, the dose regimens in groups B1 and B2 were increased to 36 IU/m2/week given as six injections in both groups. This change resulted in an increase in height velocity only in group B1. During the first 2 years only, the height velocity was greater in group A2 than group A1. The conclusion is that a regimen of six injections/week is more effective than one of three injections/week in terms of initial height gain and change in predicted adult height. In girls with Turner syndrome aged over 16 years, GH therapy has no significant effect.
Antiviral Therapy for Chronic Hepatitis B in Pregnancy

Abstract The management of chronic hepatitis B (CHB) during pregnancy remains a challenge and involves various aspects of maternal–fetal care. Despite the standard immunoprophylaxis, a significant portion of infants born to highly viremic mothers remain infected with hepatitis B virus (HBV). Emerging data suggest that antiviral therapy in the third trimester can prevent immunoprophylaxis failure. To minimize fetal exposure to antiviral agents, antiviral therapy during pregnancy should be reserved for mothers with advanced disease or who are at risk for hepatic decompensation. Current safety data suggest that lamivudine, telbivudine, or tenofovir may be used during pregnancy. However, the timing in initiating antiviral therapy requires careful assessment of risks and benefit. The authors provide a systematic review of the features of HBV during pregnancy, risk factors for vertical transmission, and evidence-based data on antiviral use during pregnancy. They propose an algorithm to assess the need of antiviral treatment and monitor mothers with CHB.