A new SNP in a negative regulatory region of the CYP19A1 gene is associated with lumbar spine BMD in postmenopausal women

Osteoporosis is a common disease of bone possessing a strong genetic component. Cytochrome P450 aromatase, which is encoded by the CYP19A1 gene, converts androgens to estradiol. Considerable evidence suggests that extragonadal estrogens play an important role in determining bone mineral density (BMD) in postmenopausal women, and, among them, those synthesized in bone cells may also be important for the determination of bone phenotype. Therefore, CYP19A1 is an excellent candidate gene for osteoporosis. Since a region upstream of exon I.3, including exon I.6, was identified as containing repressor elements of promoter pII, we conducted a search for SNPs in this region of CYP19A1. Two SNPs [Aro1(rs4775936) and Aro2] located in exon I.6 and promoter I.6, respectively, were identified and their association with BMD analyzed in a cohort of 256 Spanish postmenopausal women. Aro1(rs4775936), but not Aro2, was associated with lumbar spine BMD (P = 0.029). Homozygotes AA (16% of the women) exhibited significantly higher lumbar spine BMD, compared with GG or GA individuals. Therefore, this study describes the Aro1 polymorphism which lies within a regulatory region and which may be a functional polymorphism, partially responsible for the bone phenotype it is associated with.     

Neorickettsia helminthoeca associated lymphoid,enteric, and pulmonary lesions in dogs from Southern Brazil: An immunohistochemical study

Neorickettsia helminthoeca (NH), the agent of salmon poisoning disease or canine neorickettiosis (CN), is a bacterial endosymbiont of the nematode Nanophyetus salmincola, and infections are spreading among specific fish‐eating mammalians. This article describes the pathologic and immunohistochemical findings associated with spontaneous NH‐induced infections in dogs from Southern Brazil. The principal pathologic findings were hypertrophy of Peyer patches and lymphadenopathy with lymphocytic proliferation, chronic interstitial pneumonia, and chronic enteritis associated with positive intralesional immunoreactivity to antigens of NH within macrophages and histiocytes. Positive immunoreactivity against canine parvovirus‐2 (CPV‐2) or/and canine distemper virus was not detected in the evaluated intestinal segments or in the samples from the cerebellum and lungs, respectively, from the dogs evaluated. These findings demonstrated that NH was involved in the enteric, pulmonary, and lymphoid lesions herein described, and provide additional information to confirm the occurrence of this bacterial endosymbiont within this geographical location. It is proposed that chronic pneumonia should be considered as a pathologic manifestation of NH‐induced infections. Additionally, our results show that the occurrences of CN seem to be underdiagnosed in Southern Brazil due to the confusion with the incidence of CPV‐2.     

Temporomandibular disorders. A case-control study

Objective: To compare the risk factors and clinical manifestations of patients with temporomandibular disorders (TMDs) diagnosed according to the Research Diagnostic Criteria for Temporomandibular Disorders (RDC/TMD) (axis I) versus an age and gender matched control group. Study Design: A total of 162 patients explored according to the RDC/TMD (mean age 40.6±18.8 years, range 7-90; 11.1% males and 88.9% females) were compared with 119 controls, measuring differences in TMD risk factors (sleep disturbances, stress, psychoactive medication, parafunctions, loss of posterior support, ligament hyperlaxity) and clinical variables (joint sounds, painful muscle and joint palpation, maximum aperture). Results: Myofascial pain (MFP) (single or multiple diagnoses) was the most frequent diagnosis (42%). The most common diagnostic combination was MFP plus arthralgia (16.0%). Statistically significant differences were observed in clenching (OR 2.3; 95%CI: 1.4-3.8) and in maximum active aperture (MAA) on comparing the two groups both globally (TMD vs. controls) (patients 36.7±8.6 mm, controls 43.1±5.8 mm; F=45.41, p = 0.000) and on comparing according to diagnostic categories. MFP explained most of the observed differences in the risk factors: stress perception (OR=1.98;I.C.:1.01-3.89), psychoactive medication (OR=2.21; I.C.:1.12-4.37), parafunctions (OR=2.14;I.C.:1.12-4.11), and ligament laxity (OR=2.6;I.C.:1.01-6.68). Joint sounds were more frequent in patients with MFP (39.7% vs. 24.0%; χ2=4.66; p=0.03), and painful joint palpation was more common in patients with disc displacement with reduction (DDWR)(15.9% vs. 5.0%; χ2= 5.2; p = 0.02) and osteoarthrosis (20.8% vs. 5.0%; χ2= 7.0; p = 0.008). Conclusions: There is a high prevalence of signs and symptoms of TMDs in the general population. Significant differences are observed in clenching and MAA between patients and controls considered both globally and for each diagnostic category individually. The analyzed risk factors (except loss of posterior support) show a statistically significant OR for the diagnosis of MFP.     

Increased mitochondrial respiratory chain enzyme activities correlate with minor extent of liver damage in mice suffering from erythropoietic protoporphyria

Mitochondrial dysfunction might play a role in the pathogenesis of liver damage in erythropoietic protoporphyria (EPP). Changes in mitochondrial respiratory chain activities were evaluated in the Fech(m1pas)/Fech(m1pas) mouse model for EPP. Mice from different strains congenic for the same ferrochelatase germline mutation manifest variable degrees of hepatobiliary injury. Protoporphyric animals bred into the C57BL/6J background showed a higher degree of hepatomegaly and liver damage as well as higher protoporphyrin (PP) accumulation than those bred into the SJL/J and BALB/cJ backgrounds. Whereas mitochondrial respiratory chain activities remained unchanged in the liver of protoporphyric mice C57BL/6J, they were increased in protoporphyric mice from both SJL/J and BALB/cJ backgrounds, when compared to wild-type animals. Mitochondrial respiratory chain activities were increased in Hep G2 cell line after accumulation of PP following addition of aminolevulinic acid. As a direct effect of these elevated mitochondrial activities, in both hepatic cells from mutant mouse strains and Hep G2 cells, adenosine 5'-triphosphate (ATP) levels significantly increased as the intracellular PP concentration was reduced. These results indicate that PP modifies intracellular ATP requirements as well as hepatic mitochondrial respiratory chain enzymatic activities and further suggest that an increase of these activities may provide a certain degree of protection against liver damage in protoporphyric mice.     

Influence of abiotic factors on the antimicrobial activity of chitosan

In an effort to bypass the adverse secondary effects attributed to the traditional therapeutic approaches used to treat skin disorders (such as atopic dermatitis), alternative antimicrobials have recently been suggested. One such antimicrobial is chitosan, owing to the already proved biological properties associated with its use. However, the influence of abiotic factors on such activities warrants evaluation. This research effort assessed the antimicrobial activity of chitosan upon skin microorganisms (Staphylococcus aureus, Staphylococcus epidermidis and Escherichia coli) in vitro when subject to a combination of different abiotic factors such as pH, ionic strength, organic acids and free fatty acids. Free fatty acids, ionic strength and pH significantly affected chitosan's capability of reducing the viable numbers of S. aureus. This antimicrobial action was potentiated in the presence of palmitic acid and a lower ionic strength (0.2% NaCl), while a higher ionic strength (0.4% NaCl) favored chitosan's action upon the reduction of viable numbers of S. epidermidis and E. coli. Although further studies are needed, these preliminary results advocate that chitosan can in the future be potentially considered as an antimicrobial of choice when handling symptoms associated with atopic dermatitis.     

Checklist para pacientes con diabetes mellitus tipo 2 en consulta telemática

Las circunstancias actuales provocadas por la COVID-19 nos obligan a los profesionales de atención primaria a idear nuevas formas de garantizar la atención sanitaria de nuestros pacientes con diabetes tipo 2 (DM2). Existen evidencias que respaldan la eficacia de la telemedicina en el control glucémico de los pacientes con DM2. Ante la rápida adaptación de la práctica clínica al uso de la telemedicina, el Grupo de Trabajo de Diabetes de la Sociedad Española de Medicina Familiar y Comunitaria (SemFyC) optó por elaborar un documento de consenso plasmado en un algoritmo de actuación/seguimiento telemático en la atención de los pacientes con DM2.Palabras clave: Telemedicina, Diabetes mellitus tipo 2, COVID-19     

RV Fractional Area Change and TAPSE as Predictors of Severe Right Ventricular Dysfunction in Pulmonary Hypertension: A CMR Study

Background

The right ventricular ejection fraction (RVEF) is a surrogate marker of right ventricular function in pulmonary hypertension (PH), but its measurement is complicated and time consuming. The tricuspid annular plane systolic excursion (TAPSE) measures only the longitudinal component of RV contraction while the right ventricular fractional area change (RVFAC) takes into account both the longitudinal and the transversal components. The aim of our study was to evaluate the relationship between RVEF, RVFAC, and TAPSE according to hemodynamic severity in two groups of patients with PH: pulmonary arterial hypertension (PAH) and chronic thromboembolic pulmonary hypertension (CTEPH).

Methods and Results

Fifty-four patients with PAH (n?=?15) and CTEPH (n?=?39) underwent right heart catheterization and cardiac magnetic resonance (CMR). The ventricular volumes and areas, TAPSE, and eccentricity index were measured. The RVFAC was more strongly correlated with the RVEF (r?=?0.81, p?<?0.0001) than the TAPSE (r?=?0.63, p?<?0.0001). RVEF?<?35% was better predicted by the RVFAC than the TAPSE (TAPSE: AUC?=?0.77 and RVFAC: AUC?=?0.91; p?=?0.042). In the group with the worse hemodynamic status, the RVFAC correlated much better with the RVEF than the TAPSE. There were no significant differences in the CMR data analyzed between the groups of PAH and CETPH patients.

Conclusions

The RVFAC is a good index to estimate RVEF in PH patients; even better than the TAPSE in patients with more severe hemodynamic profile, possibly for including the transversal component of right ventricular function in its measurement. Furthermore, RVFAC performance was similar in the two PH groups (PAH and CTEPH).