Miracle-dz/UniFAR-FTUs huggingface dataset:
Haplotype-based association of the renin-angiotensin-aldosterone system genes polymorphisms with essential hypertension among Han Chinese: the Fangshan study

Background Widely evaluated regarding the genetic make-up of essential hypertension are the renin-angiotensin-aldosterone system (RAAS) genes polymorphisms, whereas results are often not reproducible. Method We thus focused on a large Fangshan population to explore association of thirteen polymorphisms in five genes of RAAS. Genotyping was performed using polymerase chain reaction-restriction fragment length polymorphism and direct sequencing techniques. Data were analyzed using MDR and Haplo.stats programs. Results All studied polymorphisms satisfied Hardy–Weinberg equilibrium in controls. Three polymorphisms (AGT M235T, ACE I/D and AT1R A1166C) displayed significant differences in the genotype and allele distributions between patients and controls (P < 0.05). Interaction analysis suggested a six-locus model that can be decomposed into three sets of polymorphisms (TaqI and M235T, A-20C and A-6G, I/D and A2350G) each with nonadditive effects. Logistic regression analysis indicated that TaqI [Recessive: crude odds ratio (ORcrude) = 1.47, P = 0.030 and adjusted (ORadjusted) = 1.46, P = 0.050] and I/D (Recessive: ORcrude = 1.40, P = 0.002 and ORadjusted = 1.49, P = 0.002) polymorphisms were significantly and positively associated with the risk of essential hypertension. Under additive and recessive modes of inheritance, similar tendency was observed for M235T polymorphism. Two haplotypes (H6 and H9) were found to significantly reduce essential hypertension risk, whereas after correction only H6 remained significant (OR = 0.25, P = 0.0006). In contrast, haplotype H13 was significantly associated with essential hypertension with a 2.14–2.16-fold increased risk (P < 0.01). Haplotype-phenotype analysis showed significant association of inferred haplotypes with SBP (hap-score = 0.44, simulated P = 0.036). Conclusion Taken together, we demonstrated three two-locus pairs of polymorphisms with synergistic effect out of three genes in RAAS and found significant haplotype-phenotype interaction. Functional studies to confirm or refute these findings are warranted.
Appropriateness of antibiotic therapy on weekends versus weekdays.

OBJECTIVES To compare the appropriateness of antibiotic treatment prescribed in an emergency department (ED) of a tertiary medical centre on weekdays and weekends. METHODS During a 1 month period, medical charts of 1029 ED visits for patients who were discharged from the ED were reviewed. Data of patients who were discharged with antibiotics were blind evaluated by two infectious disease specialists, and an 'appropriateness score' was given to the antibiotic prescription. RESULTS Antibiotics were prescribed at discharge for 182 (17.7%) patients. Appropriate antibiotic treatment was administered significantly less frequently on weekends when compared with weekdays (P = 0.004). Appropriateness scores were higher for the surgical and urological wings (P = 0.011) and for diagnoses of pneumonia and urinary tract infection (P = 0.005). Time of the day and patient's age and sex did not have a significant effect on the appropriateness score. Adjusting for all variables, only weekends remained significantly associated with less appropriate antibiotic treatment, odds ratio 0.35 and 95% confidence intervals 0.16-0.78. CONCLUSIONS This study shows less appropriate antibiotic prescription in an ED on weekends than weekdays. More studies are required to clarify measures to improve appropriate antibiotic therapy at weekends.
No impact of high‐dose cytarabine on the outcome of patients transplanted for acute myeloblastic leukaemia in first remission

High‐dose cytarabine is currently used in combination with anthracycline in the treatment of acute myeloblastic leukaemia (AML). Moreover, high‐dose cytarabine has been reported to produce long‐term disease‐free survival in a proportion of patients, especially in certain subtypes of AML. However, it remains unknown whether the outcome of patients undergoing allogeneic or autologous stem cell transplantation is influenced by previous treatment with high‐dose cytarabine. To this end, 1672 patients with AML in first remission who were reported to the Acute Leukaemia Working Party registry of the European Group for Blood and Marrow Transplantation (EBMT) and who were transplanted between 1980 and 1995 were analysed according to the dose intensity of cytarabine given at induction and/or consolidation. Autologous stem cell transplantation (ABMT) was performed in 846 patients and allogeneic bone marrow transplantation (BMT) in 826 patients. This study shows that the dose of cytarabine (Ara‐C) given at induction and/or consolidation did not influence the relapse incidence in patients subsequently allografted or autografted. In addition, it did not give any advantage in terms of overall outcome. Therefore, high‐dose (HD) Ara‐C may not be needed for patients who have a planned stem cell transplantation (SCT) as post‐remission therapy. Nevertheless, HD Ara‐C may be utilized in certain subtypes of AML that are believed to be curable by chemotherapy alone.
Do Resuscitation-Related Injuries Kill Infants and Children?

Occasionally, individuals accused of inflicting fatal injuries on infants and young children will claim some variant of the “CPR defense,” that is, they attribute the cause of injuries found at autopsy to their “untrained” resuscitative efforts. A 10-year (1994–2003) historical fixed cohort study of all pediatric forensic autopsies at the Miami-Dade County Medical Examiner Department was undertaken. To be eligible for inclusion in the study, children had to have died of atraumatic causes, with or without resuscitative efforts (Natraumatic = 546). Of these, 382 had a history of cardiopulmonary resuscitation (CPR; average age of 4.17 years); 248 had CPR provided by trained individuals only; 133 had CPR provided by both trained and untrained individuals; 1 had CPR provided by untrained individuals only. There was no overlap between these 3 distinct groups. Twenty-two findings potentially attributable to CPR were identified in 19:15 cases of orofacial injuries compatible with attempted endotracheal intubation; 4 cases with focal pulmonary parenchymal hemorrhage; 1 case with prominent anterior mediastinal emphysema; and 2 cases with anterior chest abrasions. There were no significant hollow or solid thoracoabdominal organ injuries. There were no rib fractures. The estimated relative risk of injury subsequent to resuscitation was not statistically different between the subset of decedents whose resuscitative attempts were made by trained individuals only, and the subset who received CPR from both trained and untrained individuals. In the single case of CPR application by an untrained individual only, no injuries resulted. The remaining 164 children dying from nontraumatic causes and who did not undergo resuscitative efforts served as a control group; no injuries were identified. This study indicates that in the pediatric population, injuries secondary to resuscitative efforts are infrequent or rare, pathophysiologically inconsequential, and predominantly orofacial in location. In our population, CPR did not result in any rib fractures or significant visceral injuries. Participation of nonmedical or untrained individuals in resuscitation did not increase the likelihood of injury.
A Mechanomodulatory Device to Minimize Incisional Scar Formation.

OBJECTIVE To mechanically control the wound environment and prevent cutaneous scar formation. APPROACH We subjected various material substrates to biomechanical testing to investigate their ability to modulate skin behavior. Combinations of elastomeric materials, adhesives, and strain applicators were evaluated to develop topical stress-shielding devices. Noninvasive imaging modalities were utilized to characterize anatomic site-specific differences in skin biomechanical properties in humans. The devices were tested in a validated large animal model of hypertrophic scarring. Phase I within-patient controlled clinical trials were conducted to confirm their safety and efficacy in scar reduction in patients undergoing abdominoplasty surgery. RESULTS Among the tested materials and device applicators, a polymer device was developed that effectively off-loaded high tension wounds and blocked pro-fibrotic pathways and excess scar formation in red Duroc swine. In humans, different anatomic sites exhibit unique biomechanical properties that may correlate with the propensity to form scars. In the clinical trial, utilization of this device significantly reduced incisional scar formation and improved scar appearance for up to 12 months compared with control incisions that underwent routine postoperative care. INNOVATION This is the first device that is able to precisely control the mechanical environment of incisional wounds and has been demonstrated in multiple clinical trials to significantly reduce scar formation after surgery. CONCLUSION Mechanomodulatory strategies to control the incisional wound environment can significantly reduce pathologic scarring and fibrosis after surgery.
A comparison of metabolic control by continuous and intermittent therapies in acute renal failure.

Azotemia control provided by blood pump-assisted continuous hemofiltration has not been rigorously compared with that provided by intermittent hemodialysis (IHD) for critically ill patients with acute renal failure (ARF). The metabolic control achieved by continuous venovenous hemofiltration (CVVH) and IHD was compared. In ARF patients treated with CVVH (N = 11), the normalized daily dose of therapy was 0.59 +/- 0.23 (mean +/- SD) and the normalized protein catabolic rate was 1.82 +/- 0.95 g/kg per day. The serum urea nitrogen concentration (SUN) declined with CVVH from an initial value of 114 +/- 32 to 79 +/- 17 mg/dL at steady state (SUNs). The initial analysis was a theoretical comparison between CVVH azotemia control and the control that would have been provided by IHD. Simulated IHD data were generated by conventional urea kinetic methods. The peak concentration hypothesis was invoked to compare CVVH SUNs and the peak IHD SUN (SUNp). A simulated IHD frequency of five times or more weekly was required to achieve a SUNp that did not differ from the CVVH SUNs. A similar comparison between the CVVH group and a separate group of ARF patients (N = 11) who received IHD was also performed. In the latter group, the normalized protein catabolic rate and the normalized daily dose of therapy were similar to those of the CVVH group. The SUNp (101 +/- 12 mg/dL) in the IHD group was significantly higher than the mean CVVH SUNs (P < 0.05). These data suggest that intensive hemodialysis is required to provide azotemia control similar to that provided by CVVH. (ABSTRACT TRUNCATED AT 250 WORDS)
Human dosimetry and biodistribution of iodine-123-iododexetimide: a SPECT imaging agent for cholinergic muscarinic neuroreceptors.

UNLABELLED Iodine-123-iododexetimide (IDEX) has recently been used for SPECT imaging of muscarinic cholinergic neuroreceptors (mAChR) in humans. We report the human radiation dosimetry, whole-body and normal cerebral distribution of IDEX. METHODS Serial whole-body planar and brain SPECT scans were performed over 24 hr in four normal subjects. Organ activity was calculated from attenuation-corrected geometric mean counts from ROIs drawn over visible organs. Thigh activity was used for background subtraction. Organ absorbed doses and effective dose were calculated using the MIRD schema. Brain SPECT was performed 6 hr postinjection in ten normal subjects. ROIs placed over cortical and subcortical structures were used to determine brain distribution. RESULTS The effective dose was 24.7 microSv/MBq. An average of 54% of IDEX remained in the body background. Decay-corrected brain uptake was 6.9% of injected dose at 1 hr, 8.6% at 6 hr and 8.1% at 24 hr. Regional brain distribution showed high uptake in striatum and cortex with low activity in thalamus and cerebellum. At 6 hr, activity relative to striatum was 70% for frontal and parietal cortex, 102% for occipital cortex, 54% for thalamus and 11% for cerebellum. CONCLUSION Iodine-123-IDEX produced high quality SPECT images with activity at 6 hr reflecting the known distribution of mAChR receptors. The favorable dosimetry of IDEX and high synthetic yield (50%-70%) suggest it to be a suitable agent for clinical studies.
Set-shifting and its relation to clinical and personality variables in full recovery of anorexia nervosa.

OBJECTIVE First, this study aimed to explore whether set-shifting is inefficient after full recovery of anorexia nervosa (recAN). Second, this study wanted to explore the relation of set-shifting to clinical and personality variables. METHOD A total of 100 recAN women were compared with 100 healthy women. Set-shifting was assessed with Berg's Card Sorting Test. Expert interviews yielded assessments for the inclusion/exclusion criteria, self-ratings for clinical and personality variables. RESULTS Compared with the healthy control group, the recAN participants achieved fewer categories, showed more perseverations and spent less time for shifting set. Perfectionism is correlated with set-shifting but in converse directions in the two groups. DISCUSSION Our study supports the findings of inefficiencies in set-shifting after full recovery from AN. Higher perfectionism in the recAN group is associated with better set-shifting ability, whereas higher perfectionism in the healthy control group is related to worse set-shifting ability.
Haemoglobin genotypes: a prevalence study and implications for reproductive health in Uyo, Nigeria.

BACKGROUND Haemoglobinopathies are among the most common genetic disorders worldwide, inherited as autosomal recessive disorders from healthy-carrier parents. The most common are the sickle cell disorders and the thalassaemias, occurring in people of African, Asian, South European and Middle Eastern descent. The University of Uyo Teaching hospital (UUTH), Uyo, Akwa Ibom state, Nigeria is a tertiary health institution providing the health needs of the host and neighbouring states in south-south and south east Nigeria. There is currently paucity of data on the hoemoglobin genotype distribution in Akwa Ibom State, hence the need for this study, considering its importance in medical diagnosis, parentent management, genetic information and counselling. METHODS This is a retrospective study. Registers and results of all haemoglobin genotype investigations carried out in the department of Haemotology University of Uyo Teaching Hospital, Uyo between January, 2003 and December, 2007 were extracted, reviewed and analyzed using simple percentages. RESULTS Eight thousand and ninety-seven haemoglobin genotype tests carried out over a five year period were analysed: 6376 (78.7%) of these were HbAA, 1580 (19.6%) HbAS, 121 (1.5%) HbSS, while HbAC and SC accounted for 16 (0.2%) and 4 (0.04% respectively. The ratios of Hb AA to Hb AS, HbAA to HbSS and HbAA to HbAC were 4:1, 52:1 and 400:1 respectively. Of the 8097 subjects, 6723 (83.0%) were females, 1152 (14.2%) were males. Among the females, 4.8% of HbSS and HbSc were in children under 15 years while only 0.3% were in those 15-44 years. CONCLUSION While HbAA is the predominant genotYpe in our environment, there is also a significant number of the abnormal haemoglobin genes. With many children with sickle cell disease now surviving to adulthood due to advances in medicine, a larger number of women with sickle cell disease in pregnancy with all the attendant challenges it poses should be expected in our environment. It is necessary therefore, to keep abreast with developments in the area of its management in order to cope with the challenges.
Seroprevalence and Genomic Divergence of Circulating Strains of Feline Immunodeficiency Virus among Felidae and Hyaenidae Species

ABSTRACT Feline immunodeficiency virus (FIV) infects numerous wild and domestic feline species and is closely related to human immunodeficiency virus (HIV) and simian immunodeficiency virus (SIV). Species-specific strains of FIV have been described for domestic cat (Felis catus), puma (Puma concolor), lion (Panthera leo), leopard (Panthera pardus), and Pallas' cat (Otocolobus manul). Here, we employ a three-antigen Western blot screening (domestic cat, puma, and lion FIV antigens) and PCR analysis to survey worldwide prevalence, distribution, and genomic differentiation of FIV based on 3,055 specimens from 35 Felidae and 3 Hyaenidae species. Although FIV infects a wide variety of host species, it is confirmed to be endemic in free-ranging populations of nine Felidae and one Hyaenidae species. These include the large African carnivores (lion, leopard, cheetah, and spotted hyena), where FIV is widely distributed in multiple populations; most of the South American felids (puma, jaguar, ocelot, margay, Geoffroy's cat, and tigrina), which maintain a lower FIV-positive level throughout their range; and two Asian species, the Pallas' cat, which has a species-specific strain of FIV, and the leopard cat, which has a domestic cat FIV strain in one population. Phylogenetic analysis of FIV proviral sequence demonstrates that most species for which FIV is endemic harbor monophyletic, genetically distinct species-specific FIV strains, suggesting that FIV transfer between cat species has occurred in the past but is quite infrequent today.
Trafficking of Multipotent Mesenchymal Stromal Cells from Maternal Circulation Through the Placenta Involves Vascular Endothelial Growth Factor Receptor‐1 and Integrins

Maternal cells can become engrafted in various fetal organs during pregnancy. The nature of the cells and the mechanisms of maternofetal cell trafficking are not clear. We demonstrate that human lineage‐negative, CD34‐negative (Lin−CD34−) multipotent mesenchymal stromal cells express α2, α4, α5, and β1 integrins, which mediate their adhesion to endothelium, and vascular endothelial growth factor receptor‐1 (VEGFR‐1), which mediates their response to vascular endothelial growth factor A (VEGF‐A). A maternal‐fetal VEGF‐A concentration gradient exists across the placental barrier, and cord blood plasma induces transendothelial and trans‐Matrigel migration of stem cells in vitro. Migration is inhibited by a VEGF‐A‐neutralizing antibody or antibodies against VEGFR‐1 or integrin α2, α4, α5, or β1. When Lin−CD34− multipotent mesenchymal stromal cells are transferred to rat maternal venous blood, they traffic through the placenta, engraft in various fetal organs, and persist in offspring for at least 12 weeks. Cell proliferation ability is retained in the xenogeneic placenta. Maternofetal trafficking is significantly reduced by blocking antibodies against integrins α2, α4, α5, and β1 or VEGFR‐1. These results suggest that maternal microchimerism arises by the trafficking of multipotent mesenchymal stromal cells via VEGF‐A‐ and integrin‐dependent pathways across the hemochorial placenta to fetal tissues.
Predicting influenza infections during epidemics with use of a clinical case definition.

Combined pharyngeal and nasal swab specimens were collected from 100 subjects who presented with a flu-like illness (fever >37.8 degrees C plus 2 of 4 symptoms: cough, myalgia, sore throat, and headache) of <72 hours' duration at 3 different clinics in the province of Quebec, Canada, during the 1998-1999 flu season. The rate of laboratory-confirmed influenza infection was 72% according to cell culture findings and 79% according to the results of multiplex reverse-transcription polymerase chain reaction (RT-PCR) analysis (85%, influenza AH3; 15%, influenza B). All subjects for whom these results were discordant (negative culture and positive PCR) presented with a temperature > or =38.2 degrees C as well as 3 or 4 of the symptoms in the clinical case definition. Stepwise logistic regression showed that cough (odds ratio [OR], 6.7; 95% confidence interval [CI], 1.4-34.1; P=.02) and fever (OR, 3.1; 95% CI, 1.4-8.0; P=.01) were the only factors significantly associated with a positive PCR test for influenza. The positive predictive value, negative predictive value, sensitivity, and the specificity of a case definition including fever (temperature of >38 degrees C) and cough for the diagnosis of influenza infection during this flu season were 86.8%, 39.3%, 77.6%, and 55.0%, respectively.
Difficulties in implementing an organized screening program for breast cancer in Brazil with emphasis on diagnostic methods.

INTRODUCTION Breast cancer is the most common type of cancer among women, and the leading cause of cancer deaths worldwide. Among early detection methods, screening by mammography has been used in most developed countries as gold standard. The goal of this study was to evaluate the difficulties and opportunities in implementing breast cancer screening in Brazil, with an emphasis on the diagnostic methods used according to stage distribution. METHODS Between 2007 and 2009, 248 women were diagnosed with breast cancer in the Barretos region. Most of these were interviewed in their homes using a questionnaire with sociodemographic and preventive breast cancer screening questions. All other data were obtained from Barretos Cancer Hospital (BCH) medical records. RESULTS The screening program conducted by BCH was responsible for 46.1% of diagnosed cases, with 30.1% of these referred from the private system and 23.8% from the public system. Among asymptomatic women screened by the BCH Screening Program 70.8% had clinical stage 0-I disease, compared with 58.1% in the private and 50% in the public systems. Monthly breast self-examination was reported by 48.5% of the women. Clinical breast examinations were regularly performed by 88.9% of gynecologists in the private and 40.7% in the public health systems. Only 5.6% of the women reported difficulty in accessing mammography and this was most frequently due to fear of the disease or lack of knowledge about mammography in asymptomatic women. CONCLUSION This breast cancer screening program resulted in a substantial number of patients presenting with clinical stage (CS) 0-I disease. The success of this program was due to intensive community interventions, free mammography, and the availability of health care and mammography close to patients' homes.