Onset of X-linked sideroblastic anemia in the fourth decade

We report the case of a 40-year female who manifested late onset, pyridoxine-refractory X-linked sideroblastic anemia, heterozygous for the first described frameshift ALAS2 mutation, CD506-507 (-C). On presentation she had macrocytic anemia with severe iron overload.     

Are the Effects of High-Intensity Exercise Training Different in Patients with COPD Versus COPD+Asthma Overlap?

Purpose

This study aimed to investigate whether patients with chronic obstructive pulmonary disease (COPD) presenting asthma overlap (ACO) benefit similarly in comparison to patients with only COPD after a 12-week high-intensity exercise training (ET) program.

Methods

Subjects with a diagnosis of COPD alone or ACO were evaluated and compared before and after a high-intensity ET program composed of walking and cycling plus strengthening exercises of the upper and lower limbs (3 days/week, 3 months, 36 sessions). Assessments included spirometry, bioelectrical impedance, 6-min walk test (6MWT), London Chest Activity of Daily Living Scale (LCADL), Hospital anxiety and depression Scale, modified Medical Research Council Scale (mMRC), Saint George Respiratory Questionnaire (SGRQ), and respiratory and peripheral muscle strength [manovacuometry and 1-repetition maximum test (quadriceps femoris, biceps and triceps brachialis), respectively]. ACO was defined according to Sin et al. (Eur Respir J 48(3):664-673, 2016).

Results

The sample was composed of 74 subjects (57% male, age 67 ± 8 years, BMI 26 (21–32) kg/m², FEV₁ 47 ± 17%predicted), and 12 (16%) of them were classified as presenting ACO. Both groups improved pulmonary function, 6MWT, peripheral and inspiratory muscle strength, LCADL, and SGRQ after ET (p < 0.005 for all). There were no significant interactions between ACO and COPD on ET effects (p > 0.05 for all). Likewise, there was no difference in the proportion of patients achieving the minimum clinical important difference for 6MWT and mMRC.

Conclusion

High-intensity exercise training generates similar benefits in patients with COPD regardless of whether presenting asthma overlap or not.

     

Child safety from the perspective of essential needs

OBJECTIVE:

to characterize the maternal care for children under one year of age with a view to child health promotion at home.

METHOD:

exploratory study with qualitative data analysis, thematic mode, based on the conceptual framework of the essential needs of children, based on interviews recorded with 16 mothers.

RESULTS:

the analysis of the maternal narratives showed elements that facilitate the promotion of child safety: presence and involvement of the parents, constant surveillance for physical and emotional protection, experiences to stimulate child development, support networks for childcare at home; and inhibiting elements of child safety: limited perception of characteristics of child development and of children''s singularities, overprotection and difficulties to set limits.

CONCLUSION:

the study enhances the understanding of home care in child health promotion, directing professional actions to guarantee ongoing nurturing relationships, protection, respect for individual differences, experiences appropriate to child development, limit setting and construction of stable and supportive social networks. In addition, the relevance of considering the maternal perspective in child health care is considered, as a strategy to apprehend aspects related to the attendance of the growth and development needs, particularly for child health promotion at home.     

Platelet‐Rich Plasma,Low‐Level Laser Therapy,or Their Combination Promotes Periodontal Regeneration in Fenestration Defects: A Preliminary In Vivo Study

Background: This study histomorphometrically analyzes the influence of platelet‐rich plasma (PRP), low‐level laser therapy (LLLT), or their combination on the healing of periodontal fenestration defects (PFDs) in rats. Methods: PFDs were surgically created in the mandibles of 80 rats. The animals were randomly divided into four groups: 1) C (control) and 2) PRP, defects were filled with blood clot or PRP, respectively; 3) LLLT and 4) PRP/LLLT, defects received laser irradiation, were filled with blood clot or PRP, respectively, and then irradiated again. Animals were euthanized at either 10 or 30 days post‐surgery. Percentage of new bone (NB), density of newly formed bone (DNB), new cementum (NC), and extension of remaining defect (ERD) were histomorphometrically evaluated. Data were statistically analyzed (analysis of variance; Tukey test, P <0.05). Results: At 10 days, group PRP presented ERD significantly lower than group C. At 30 days, group PRP presented NB and DNB significantly greater than group C. Groups LLLT, PRP, and PRP/LLLT showed significant NC formation at 30 days, with collagen fibers inserted obliquely or perpendicularly to the root surface. NC formation was not observed in any group C specimen. Conclusions: LLLT, PRP, or their combination all promoted NC formation with a functional periodontal ligament. The combination PRP/LLLT did not show additional positive effects compared to the use of either therapy alone.     

Is there an association between anxiety/depression and temporomandibular disorders in college students?

Objective

Considering the high incidence of Temporomandibular Disorders (TMD) in the population aged 15-30 years and the fact that students are exposed to stressful psychosocial factors, the purposes of this study were: to verify clinical symptoms and jaw functionality in college students with TMD according to the anxiety/depression (A/D) level and to evaluate the correlation between A/D and functionality, maximum mouth opening (MMO) and pain and muscle activity.

Material and Methods

Nineteen students with TMD diagnosed according to the Research Diagnostic Criteria for Temporomandibular Disorders underwent two assessments during an academic semester. The evaluations were based on questionnaires (MFIQ - Mandibular Function Impairment Questionnaire; HADS - Hospital Anxiety and Depression Scale), clinical measurements (MMO without pain, MMO and assisted MMO; palpation of joint and masticatory muscles), and electromyography. The HADS scores obtained in the two assessments were used to classify all data as either "high" or "low" A/D. Data normality, differences and correlations were tested with the Shapiro-Wilk test, Student''s t-test (or the Wilcoxon test), and Spearman test, respectively. The alpha level was set at 0.05.

Results

None of the clinical variables were significantly different when comparing low and high A/D data. In low A/D there was a significant correlation between HADS score and: MFIQ (P=0.005, r=0.61), and MMO without pain (P=0.01, r=-0.55).

Conclusions

Variation in A/D level did not change clinical symptoms or jaw functionality in college students with TMD. Apparently, there is a correlation between TMJ functionality and A/D level, which should be further investigated, taking into account the source of the TMD and including subjects with greater functional limitation.     

Malaria: looking for selection signatures in the human PKLR gene region

The genetic component of susceptibility to malaria is both complex and multigenic and the better‐known protective polymorphisms are those involving erythrocyte‐specific structural proteins and enzymes. In vivo and in vitro data have suggested that pyruvate kinase deficiency, which causes a nonspherocytic haemolytic anaemia, could be protective against malaria severity in humans, but this hypothesis remains to be tested. In the present study, we conducted a combined analysis of Short Tandem Repeats (STRs) and Single Nucleotide Polymorphisms (SNPs) in the pyruvate kinase‐encoding gene (PKLR) and adjacent regions (chromosome 1q21) to look for malaria selective signatures in two sub‐Saharan African populations from Angola and Mozambique, in several groups with different malaria infection outcome. A European population from Portugal, including a control and a pyruvate kinase‐deficient group, was used for comparison. Data from STR and SNP loci spread along the PKLR gene region showed a considerably higher differentiation between African and Portuguese populations than that usually found for neutral markers. In addition, a wider region showing strong linkage disequilibrium was found in an uncomplicated malaria group, and a haplotype was found to be associated with this clinical group. Altogether, this data suggests that malaria selective pressure is acting in this genomic region.