Autistic Traits Moderate Reappraisal Success for Depression and Anxiety Symptoms

Journal of Autism and Developmental Disorders - Cognitive reappraisal is associated with reduced emotional distress; however, little is known about the nature of this relationship in autism. This...     

Polymorphisms of <Emphasis Type="Italic">ICAM-1</Emphasis> and <Emphasis Type="Italic">IL-6</Emphasis> genes related to endometriosis in a sample of Brazilian women

Purpose

This study investigated the possibility of K469E (rs5498) and G241R (rs1799969) polymorphisms, in ICAM-1 gene, and G634C (rs1800796), in IL-6 gene, being associated with the occurrence of endometriosis in a sample of Brazilian women.

Methods

We genotyped 200 women (100 in control group and 100 in endometriosis group) by PCR-RFLP technique for G634C, K469E, and G241R polymorphisms.

Results

No significant difference was observed in genotypic frequency between control and endometriosis groups for G634C and K469E polymorphisms (p?=?0.61 and p?=?0.22, respectively). In addition, no significant difference between stages I-II and III-IV of the disease was found for both SNPs (p?=?0.63 and p?=?0.24, respectively). All individuals were wild homozygotes for G241R polymorphism.

Conclusion

This study suggests that polymorphisms K469E, G241R, and G634C are not associated with increased susceptibility to endometriosis in Brazilian women.

     

Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease

Prenatal forms of autosomal dominant polycystic kidney disease (ADPKD) are rare but can be recurrent in some families, suggesting a common genetic modifying background. Few patients have been reported carrying, in addition to the familial mutation, variation(s) in polycystic kidney disease 1 (PKD1) or HNF1 homeobox B (HNF1B), inherited from the unaffected parent, or biallelic polycystic kidney and hepatic disease 1 (PKHD1) mutations. To assess the frequency of additional variations in PKD1, PKD2, HNF1B, and PKHD1 associated with the familial PKD mutation in early ADPKD, these four genes were screened in 42 patients with early ADPKD in 41 families. Two patients were associated with de novo PKD1 mutations. Forty patients occurred in 39 families with known ADPKD and were associated with PKD1 mutation in 36 families and with PKD2 mutation in two families (no mutation identified in one family). Additional PKD variation(s) (inherited from the unaffected parent when tested) were identified in 15 of 42 patients (37.2%), whereas these variations were observed in 25 of 174 (14.4%, P=0.001) patients with adult ADPKD. No HNF1B variations or PKHD1 biallelic mutations were identified. These results suggest that, at least in some patients, the severity of the cystic disease is inversely correlated with the level of polycystin 1 function.     

Nutritional screening and dietitian consultation rates in a geriatric evaluation and management unit

Aim

Nutritional screening may not always lead to intervention. The present study aimed to determine: (i) the rate of nutritional screening in hospitalised older adults; (ii) whether nutritional screening led to dietitian consultation and (iii) factors associated with malnutrition.

Methods

In this prospective study of patients aged ≥70 years admitted to a Geriatric Evaluation and Management Unit (GEMU), malnutrition was screened for using the Mini Nutritional Assessment Short Form (MNA‐SF) and identified using the Mini Nutritional Assessment (MNA).

Results

Of the 172 patients participating in the study, 53 (30.8%) patients were malnourished, and 84 (48.8%) were at risk of malnutrition. Mean (SD) age was 85.2 (6.4 years), with 131 patients (76.2%) female. Nutritional screening was performed for all patients; however, it was incomplete in 59 (34.3%) because of omission of the anthropometric measurement. Overall, 62 (36.0%) of the total number of patients were seen by the dietitian, which included 26 (49%) of malnourished patients, 27 (32%) of at‐risk patients and 9 (26%) of the well‐nourished patients. No patients lost >1% of body weight during GEMU stay. Malnourished patients were more likely to be frail, have poor appetite, depression, and have lower levels of: albumin, cognition, physical function, grip strength and quality of life.

Conclusions

The full benefits of nutritional screening by MNA‐SF may not be realised if it does not result in malnourished patients receiving a dietitian consultation. However, it is possible that enrichment of the foodservice with high protein/high‐energy options minimised patient weight loss in the GEMU.     

Pharmacotherapy and nutritional supplements for seasonal affective disorders: a systematic review

Introduction: A seasonal affective disorder (SAD) is a subtype of unipolar and bipolar major depressive disorders. It is characterized by its annual recurrence of depressive episodes at a particular season, mostly seen in winter and is responsible for 10–20% of the prevalence of major depressive disorders. Some pathophysiological hypotheses, such as the phase delay and the monoamine depletion hypotheses, have been postulated but the exact cause has not been fully unraveled yet. Studies on treatment for SAD in the last decade are lacking. To tackle this chronic disease, attention needs to be drawn to the gaps in this research field.

Areas covered: In this systematic review, the authors give a broad overview of the pharmacological therapy available for SAD. Also, nutritional substances fitting well with the postulated hypotheses are reviewed for the treatment and prevention of SAD. There is a specific focus on the quality of the currently performed studies.

Expert opinion: Light therapy and fluoxetine are the only proven and effective acute treatment options for SAD, while bupropion is the only registered drug for prevention of SAD. This area of research is in dire need of valid large-scale and sufficiently reproducible randomized control trials.