Miracle-dz/UniFAR-FTUs huggingface dataset:
Distrofia macular corneal: características clínicas, histopatológicas y ultraestructurales

espanolObjetivo: Determinar las principales caracteristicas clinicas, histopatologicas y ultraestructurales en pacientes mexicanos con distrofia macular de la cornea, asi como las alteraciones geneticas en algunos de ellos y compararlas con lo informado en la literatura. Metodo: Se recopilaron un total de seis casos con diagnostico histopatologico de distrofia macular corneal registrados de 1957 a 2004. Resultados: Clinicamente todas las corneas presentaban opacidades estromales blanco grisaceas de bordes difusos. Histopatologicamente se demostro la presencia de depositos finamente granulares entre las laminillas del estroma corneal, que resultaron intensamente positivos con las tinciones de azul alciano e hierro coloidal. Por microscopia electronica de transmision se demostro dilatacion del reticulo endoplasmico liso y la presencia de vacuolas intracitoplasmaticas con un material electrodenso, correspondiente a glicosaminoglicanos. El analisis genetico en dos de los pacientes demostro mutaciones en el gen CHST6. Conclusiones: En nuestra serie hubo un predominio de afeccion por el sexo femenino y el promedio de edad fue mayor en comparacion a lo informado en la literatura. Los hallazgos clinicos, histopatologicos y ultraestructurales fueron similares a aquellos previamente informados en otras series. Al igual que en la literatura, la alteracion genetica en 2 de nuestros pacientes se encontro en el gen CHST6. EnglishObjective: To assess the main clinical, genetic, histopathological and ultrastructural features of Mexican patients with macular corneal dystrophy, and to compare the results with those previously reported. Method: We analyzed six cases where a histopathologic diagnosis of macular corneal dystrophy had been made between 1957 and 2004. Results: Clinically, all corneas showed focal grayish-white stromal opacities with diffuse edges. Histopathologically, intrastromal granules stained strongly positive with Alcian blue and colloidal iron. Transmission electron microscopy showed enlargement of smooth endoplasmic reticulum and the presence of intracytoplasmic vacuoles that corresponded to glycosaminoglycans. Genetic analysis showed novel mutations in the CHST6 gene in 2 of the patients. Conclusions: Females were more affected than males and the mean age at the time of diagnosis was older than that reported previously, however the clinical, histopathological and ultrastructural features were similar to those of previous reports. As described in other cases in the literature, in some instances a disorder is found in CHST6 gene as a basis for this condition.
Clinical correlates of insulin sensitivity and its association with mortality among men with CKD stages 3 and 4.

BACKGROUND AND OBJECTIVES Insulin resistance participates in the pathogenesis of multiple metabolic and cardiovascular diseases. CKD patients have impaired insulin sensitivity, but the clinical correlates and outcome associations of impaired insulin sensitivity in this vulnerable population are not well defined. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS The prospective cohort study was from the third examination cycle of the Uppsala Longitudinal Study of Adult Men, a population-based survey of elderly men ages 70-71 years; insulin sensitivity was assessed by glucose disposal rate as measured with euglycemic clamps. Inclusion criterion was eGFR<60 ml/min per 1.73 m(2) (n=543). Exclusion criteria were incomplete data on euglycemic clamp and diabetes (n=97), leaving 446 men with CKD stages 3 and 4 (eGFR median=51.9 ml/min per 1.73 m(2); range=20.2-59.5 ml/min per 1.73 m(2)). RESULTS The mean of glucose disposal rate was 5.4 ± 1.9 mg/kg per minute. In multivariable analysis, the independent clinical correlates of glucose disposal rate were eGFR (slope, 0.02; 95% confidence interval, 0.01 to 0.04), hypertension (-0.48; 95% confidence interval, -0.86 to -0.11), hyperlipidemia (-0.51; 95% confidence interval, -0.84 to -0.18), and body mass index (-0.32; 95% confidence interval, -0.37 to -0.27). During follow-up (median=10.0 years; interquartile range=8.7-11.0 years), 149 participants died. In Cox regression models, glucose disposal rate was not associated with all-cause or cardiovascular mortality. Multiplicative interactions (P<0.05) were observed between glucose disposal rate and physical activity or smoking in total mortality association. After subsequent stratification, glucose disposal rate was an independent correlate of all-cause mortality in smokers (adjusted hazard ratio, 0.72; 95% confidence interval, 0.54 to 0.96 per 1 mg/kg per minute glucose disposal rate increase) and physically inactive individuals (hazard ratio, 0.77; 95% confidence interval, 0.61 to 0.97) but not their counterparts. CONCLUSION eGFR, together with various components of the metabolic syndrome, contributed to explain the variance of insulin sensitivity in men with CKD stages 3 and 4. Insulin sensitivity was associated with a lower mortality risk in individuals who smoked and individuals who were physically inactive.
Cloning and sequence of a 3·835 kbp DNA fragment containing the HIS4 gene and a fragment of a PEX5‐like gene from Candida albicans

We have isolated the Candida albicans HIS4 (CaHIS4) gene by complementation of a his4‐34 Saccharomyces cerevisiae mutant. The sequenced DNA fragment contains a putative ORF of 2514 bp, whose translation product shares a global identity of 44% and 55% to the His4 protein homologs of S. cerevisiae and Kluyveromyces lactis, respectively. Analysis of CaHIS4 sequence suggests that, similarly to S. cerevisiae HIS4, it codes for a polypeptide having three separate enzymatic activities (phosphoribosyl‐AMP cyclohydrolase, phosphoribosyl‐ATP pyrophosphohydrolase and histidinol dehydrogenase) which reside in different domains of the protein. A C. albicans his4 strain is complemented with this gene when using a C. albicans‐S. cerevisiae‐Escherichia coli shuttle vector, thus enabling the construction of a host system for C. albicans genetic manipulation. In addition, upstream of the sequenced CaHIS4 sequence, we have found the 3′‐terminal half of a gene encoding a PEX5‐like protein. The EMBL/DDJB/GenBank Accession Number of this sequence is AJ003115. © 1998 John Wiley & Sons, Ltd.
Growth performance, meat quality, and carcass characteristics in growing and fattening Hanwoo steers fed bentonite

Thirty-six castrated, seven months-old Hanwoo steers (initial body weight: 184 ± 5.2kg) were assigned to three treatments over 23 months to evaluate the effects of supplementation with bentonite (0, 0.1 and 0.3%) on growth performance and carcass and meat characteristics. A completely randomized design with three replicates was used. The inclusion of a bentonite-supplemented diet had an influence on final weight, total weight gain, and average daily gain. Bentonite supplementation had no significant effect on proximate composition and meat quality. For carcass characteristics, there were no significant differences in yield traits and quality traits between treatments (but not cold carcass weight, marbling score, and quality grade). It was concluded that supplementation with bentonite (0.1 and 0.3%) improved growth performance, cold carcass weight, marbling score and quality grade compared with the control, except for meat quality.
A problem in diagnosis of primary versus secondary microcephaly

Twenty‐six primary and 21 secondary microcephalics were compared on the criteria of family and birth factors and clinical examinations. The two groups were similar in respect to their birthweights and parental ages at the time of birth. The group characteristics of primary microcrphalics that appear to be useful in distinguishing them from secondary cases are: (1) consanguinity in two of 13 families, (2) significantly increased number (18.9%) of pregnancy losses, (3) almost normal conditions of gestation, delivery and postnatal periods, (4) apparent microcephaly at birth in 50%, (5) relative absence of neurological problems, (6) relatively normal developmental milestones, and (7) increased frequency of subnormal intelligence in first degree relatives.
Convulsions induced by centrally administered NMDA in mice: effects of NMDA antagonists, benzodiazepines, minor tranquilizers and anticonvulsants

1 Convulsions were induced reproducibly by intracerebroventricular injection of N‐methyl‐D‐aspartic acid (NMDA) to conscious mice. 2 Competitive (carboxypiperazine‐propylphosphonic acid, CPP; 2‐amino‐7‐phosphonoheptanoic acid, AP7) and non‐competitive (MK801; phencyclidine, PCP; thienylcyclohexylpiperidine, TCP; dextrorphan; dextromethorphan) NMDA antagonists prevented NMDA‐induced convulsions. 3 Benzodiazepine receptor agonists and partial agonists (triazolam, diazepam, clonazepam, Ro 16–6028), classical anticonvulsants (diphenylhydantoin, phenobarbitone, sodium valproate) and meprobamate were also found to prevent NMDA‐induced convulsions. 4 Flumazenil (a benzodiazepine receptor antagonist) and the GABA agonists THIP and muscimol (up to subtoxic doses) were without effect. 5 Flumazenil reversed the anticonvulsant action of diazepam, but not that of MK801. 6 Results obtained in this model differ somewhat from those described in a seizure model with systemic administration of NMDA. An explanation for this discrepancy is offered. 7 This model is a simple test for assessing the in vivo activity of NMDA antagonists and also expands the battery of chemically‐induced seizure models for characterizing anticonvulsants not acting at NMDA receptors.
Detection of DNA fragmentation in human spermatozoa: correlation with semen parameters

To determine the prevalence of high levels of sperm DNA damage among infertile men with normal and abnormal semen parameters, 90 patients were subdivided into the following three groups. Group A (n = 30): men with normal semen parameters who acted as the controls. Group B (n = 30): asthenozoospermic men and group C (n = 30): teratozoospermic men, suffering from male infertility. DNA damage was evaluated by the rate of DNA fragmentation index (DFI) as assessed by the terminal desoxynucleotidyl transferase‐mediated dUTP nick‐end labelling assay. It was found that the difference was not significant between the percentage of DFI in patients with asthenozoospermia and the normospermic men (9.46% ± 8.68 and 8.19 ± 6.84 respectively, P‐value not significant). The patients with teratozoospermia showed a significantly higher percentage of DNA fragmentation compared with the controls (respectively 21.37 ± 17.26% and 8.19 ± 6.84%, P < 0.001). There was a positive correlation between abnormal sperm morphology and the DFI (r = 0.44, P < 0.01) in group C. It is concluded that the impairments of sperm parameters were associated with an increase of DNA fragmentation; this association was strictly related to atypical forms.
Effect of mycophenolate mofetil on erythropoiesis in stable renal transplant patients is correlated with mycophenolic acid trough levels.

BACKGROUND Both mycophenolate mofetil (MMF) and azathioprine (AZA) are immunosuppressive drugs that inhibit purine synthesis. In theory, MMF selectively inhibits lymphocyte proliferation, while AZA has well-known effects on red blood cells and thrombocytes as well. In renal transplant recipients we replaced CsA therapy by MMF in an attempt to reduce the immunosuppressive load 1 year after kidney transplantation. During this study we observed the effect of MMF on haematological parameters such as haemoglobin (Hb), leukocytes, and thrombocytes. METHODS One year after kidney transplantation 26 stable patients were converted from cyclosporin A (CsA) to MMF (2 g/day). Thereafter, these patients were tapered twice in their MMF dose from 2 g to 1.5 g (4 months after conversion) and from 1.5 to 1 g (8 months after conversion) per day. The Hb levels, leukocyte and thrombocyte counts, and mycophenolic acid (MPA) trough levels were routinely measured. RESULTS After conversion from CsA to MMF not only creatinine levels and the number of leukocytes, but also the haemoglobin (Hb) level significantly decreased in 21/26 patients (P=0.0004). In eight patients the Hb level dropped more than 1 mmol/l (=1.61 g/dl). Only in two of eight patients was an explanation for blood loss found. The effect on Hb level did not ameliorate after the first MMF dose reduction to 1.5 g/day. After tapering the MMF dose to 1 g/day, the Hb approached the pre-conversion level. Not only the MMF dose but also the mycophenolic acid (MPA) trough level correlated with the Hb level. CONCLUSIONS After conversion from CsA to MMF 1 year after kidney transplantation, a decrease in Hb level and leukocyte count was observed. The MPA trough level correlated also with the Hb level. The effect on the Hb level was reversible after dose reduction. This finding suggests that MMF exerts a negative effect on erythropoietic cells.
Clinical and epidemiological features of patients with chronic hepatitis C co-infected with HIV.

UNLABELLED Co-infection with hepatitis C virus (HCV) and human immunodeficiency virus (HIV) is increasingly common and affects the clinical course of chronic hepatitis C. Highly active antiretroviral therapy has improved the life expectancy of HIV infected patients, but, by extending survival, it permits the development of HCV cirrhosis. This study tried to evaluate clinical and epidemiological features of patients with chronic hepatitis C co-infected with HIV. We evaluated 134 HCV-infected patients: i) group A-- 65 co-infected HCV/HIV patients, ii) group B-- 69 mono-infected HCV patients. The impact of HIV infection on HCV liver disease was analyzed using Child's score, ultrasound findings and liver histology. Patients were subjected to HCV genotyping and anti-HBs dosage. Patients mean age was 42.4 years (+/-9.1) and 97 (72.4%) were males. Injected drug use and homo/bisexual practice were more frequently encountered in the co-infected group: 68.3% and 78.0%, respectively. Antibodies against hepatitis B virus (anti-HBs) were found in only 38.1% of the patients (66.7% group A x 33.3% group B). Ten out of 14 individuals (71.4%) who had liver disease (Child B or C) and 25 out of 34 (73.5%) who showed ultrasound evidence of chronic liver disease were in the co-infection group. HCV genotype-2/3 was more frequently encountered in co-infected patients (36.9% group A vs. 21.8% group B). CONCLUSIONS a) HIV infection seems to adversely affect the clinical course of chronic hepatitis C, b) injected drug use, bi/homosexual practice and genotype-2/3 were more frequently encountered in co-infected patients, c) immunization against HBV should be encouraged in these patients.
Understanding the Host Genetics of Chronic Hepatitis B and C

The outcome of hepatitis B virus (HBV) and hepatitis C virus (HCV) infections are heterogeneous, ranging from an asymptomatic self-limiting infection to cirrhosis and hepatocellular carcinoma. Several viral environmental and demographic variables have been identified as determinants of disease outcome, but these fail to explain a large proportion of the variability. Evidence from twin studies suggests that the host genetic background is an important contributor to disease outcome. Identification of genes that influence the outcome of infection has been attempted using a wide spectrum of approaches including candidate gene disease association studies, genome-wide scanning in affected sibling pairs and most recently genome-wide association studies. We summarize the main findings from a large number of studies in this review. Many studies have focused on the MHC loci from which several reproducible disease associations have been identified. More recently, genome-wide association studies have identified an important locus within the IL-28 - Il-29 region on chromosome 29, which appears to be a major determinant of the treatment response in patients infected with HCV and also a determinant of spontaneous resolution of infection. Translation of the genetic architecture of chronic viral hepatitis into therapeutic opportunities has been slow to proceed. One clinical trial and one drug development program have been based on genetic discoveries. The use of IL-28B genotyping to predict the response to pegylated interferon and ribavirin may also find its way into clinical practice. Indeed, stratification of clinical trial populations based on IL-28B genotype is already considered mandatory.
Decreased neurogenesis in aged rats results from loss of granule cell precursors without lengthening of the cell cycle

It is well established that neurogenesis in the dentate gyrus slows with aging, but it is unclear whether this change is due to slowing of the cell cycle, as occurs during development, or to loss of precursor cells. In the current study, we find that the cell cycle time of granule cell precursors in middle‐aged male rats is not significantly different from that in young adults. The size of the precursor pool, however, was 3–4 times smaller in the middle‐aged rats, as determined using both cumulative bromodeoxyuridine (BrdU) labeling as well as labeling with the endogenous marker of cell proliferation, proliferating cell nuclear antigen (PCNA). Loss of precursor cells was much greater in the granule cell layer than in the hilus, suggesting that dividing cells in the hilus belong to a distinct population, most likely glial progenitors, that are less affected by aging than neuronal precursors. BrdU‐labeled precursor cells and young neurons, labeled with doublecortin, appeared to be lost equally from rostral and caudal, as well as suprapyramidal and infrapyramidal, subregions of the granule cell layer. However, doublecortin staining did show large parts of the caudal granule cell layer with few if any young neurons at both ages. Taken together, these findings indicate that precursor cells are not distributed evenly within the dentate gyrus in adulthood but that precursors are lost from throughout the dentate gyrus in old age with no concomitant change in the cell cycle time. J. Comp. Neurol. 501:659–667, 2007. Published 2007 Wiley‐Liss, Inc.
Evaluation of a Diabetes Care Coordination Program for African-American Women Living in Public Housing

Vol. 22, No. 8 August 2015 JCOM 365 AbstrAct • Objective: To examine the implementation of the Diabetes Care Coordination Program (DCCP) and its effects on diabetes-related clinical health outcomes. • Methods: Program participants were African American women (n = 148) with type 2 diabetes who lived in public housing in Boston’s Roxbury neighborhood. Through the DCCP, Whittier Street Health Center’s clinical team provided diabetes self-management education, support, and comprehensive diabetes care using the patient-centered medical home model and Diabetes Health Ambassadors as mediators for program delivery. Core intervention components of the DCCP included: 1) diabetes self-management education, 2) support for managing diabetes and distress, 3) enhancing access and linkage to care, 4) improving quality of care, 5) community organization, mobilization, and advocacy, and 6) health system and community transformation. A participatory monitoring and evaluation system was used to document and systematically reflect on program implementation. • Results: DCCP implementation was associated with modest improvements in diabetes-related clinical health outcomes for program participants. Results showed statistically significant improvements in HbA1c (P = 0.016), weight (P = 0.021) and diastolic blood pressure (P = 0.027). • Conclusion: Using neighborhood Diabetes Health Ambassadors for program delivery has implications for assuring access to quality diabetes care for populations experiencing health disparities.
C‐Reactive protein as a diagnostic tool of sepsis in very immature babies

Abstract Three hundred and nine septic screens were performed on 123 consecutively admitted infants of <30 weeks gestation. As part of the septic screen, serial quantitative measurements of C‐reactive protein (CRP) were performed daily until discontinuation of antibiotic therapy. Complete blood counts were performed daily for the first 2 days of each septic episode.
Brachy–syndactyly caused by loss of Sfrp2 function

Wnt signaling pathways are regulated both at the intracellular and extracellular levels. During embryogenesis, the in vivo effects of the secreted frizzled‐related protein (Sfrp) family of Wnt inhibitors are poorly understood. Here, we show that inactivation of Sfrp2 results in subtle limb defects in mice with mesomelic shortening and consistent shortening of all autopodal elements that is clinically manifested as brachydactyly. In addition, there is soft‐tissue syndactyly of the hindlimb. The brachydactyly is caused by decreased chondrocyte proliferation and delayed differentiation in distal limb chondrogenic elements. These data suggest that Sfrp2 can regulate both chondrogenesis and regression of interdigital mesenchyme in distal limb. Sfrp2 can also repress canonical Wnt signaling by Wnt1, Wnt9a, and Wnt4 in vitro. Sfrp2−/− and TOPGAL/Sfrp2−/− mice have a mild increase in beta‐catenin and beta‐galactosidase staining, respectively, in some phalangeal elements. This however does not exclude a potential concurrent effect on non‐canonical Wnt signaling in the growth plate. In combination with what is known about BMP and Wnt signaling in human brachydactylies, our data establish a critical role for Sfrp2 in proper distal limb formation and suggest SFPR2 could be a novel candidate gene for human brachy–syndactyly defects. J. Cell. Physiol. 217: 127–137, 2008. © 2008 Wiley‐Liss, Inc.
Full-Field Optical Coherence Tomography of Human Donor and Pathological Corneas

Abstract Purpose: To evaluate the performance of a full-field optical coherence tomography (FF-OCT) system in the study of human donor and pathological corneas and assess its suitability for use in eye banks. Methods: Our study was carried out using an FF-OCT system developed for non-invasive imaging of tissue structures in depth with ultrahigh resolution (1 µm in all directions). Images were acquired from eight stored human donor corneas (either edematous or after deswelling) and five surgical specimens of corneas with various diseases (bullous keratopathy, lattice corneal dystrophy, stromal scar after keratitis, keratoconus and Fuchs dystrophy). They were compared with standard histology and pre-operative spectral domain OCT. Results: The FF-OCT device enabled a precise visualization of the cells and the different structures (epithelium, basement membrane, Bowman’s layer, stroma, Descemet’s membrane and endothelium) in normal corneas. Specific lesions in various corneal diseases could also be easily identified, such as corneal edema, epithelium and Bowman’s layer irregularities, breaks, or scars (keratoconus), stromal opacities, deposits, fibrosis (stromal corneal scar, bullous keratopathy, lattice corneal dystrophy) and Descemet’s membrane thickening and guttae (Fuchs dystrophy). FF-OCT image features were comparable to the details provided by conventional histology. Higher resolution could be demonstrated with FF-OCT when compared with spectral domain OCT. Conclusion: FF-OCT is a powerful non-invasive imaging tool that allows detailed study of corneal structures. Images correlate well with conventional histology. Further studies should evaluate the benefit of this technique as a complement to current assessment methods of human donor corneas.