The role of size, sequence and haplotype in the stability of FRAXA and FRAXE alleles during transmission

Factors involved in the stability of trinucleotide repeats during transmission were studied in 139 families in which a full mutation, premutation or intermediate allele at either FRAXA or FRAXE was segregating. The transmission of alleles at FRAXA, FRAXE and four microsatellite loci were recorded for all individuals. Instability within the minimal and common ranges (0-40 repeats for FRAXA, 0-30 repeats for FRAXE) was extremely rare; only one example was observed, an increased in size at FRAXA from 29 to 39 repeats. Four FRAXA and three FRAXE alleles in the intermediate range (41-60) repeats for FRAXA, 31-60 for FRAXE) were unstably transmitted. Instability was more frequent for FRAXA intermediate alleles that had a tract of pure CGG greater than 37 although instability only occurred in two of 13 such transmissions: the changes observed were limited to only one or two repeats. Premutation FRAXA alleles over 100 repeats expanded to a full mutation during female transmission in 100% of cases, in agreement with other published series. There was no clear correlation between haplotype and probability of expansion of FRAXA premutations. Instability at FRAXA or FRAXE was more often observed in conjunction with a second instability at an independent locus suggesting genomic instability as a possible mechanism by which at least some FRAXA and FRAXE mutations arise.      

Coconut Oil Supplementation Does Not Affect Blood Pressure Variability and Oxidative Stress: A Placebo-Controlled Clinical Study in Stage-1 Hypertensive Patients

Exploring an alternative to improve the clinical management of hypertension, we tested the hypothesis that food supplementation with coconut oil (EVCO), alone or combined with aerobic exercise training, could exert an antihypertensive effect (primary outcome) in patients with stage 1 hypertension. Forty-five hypertensive volunteers of both genders participated in a placebo-controlled clinical trial. The volunteers were submitted to 24-hour ambulatory blood pressure monitoring, analysis of blood pressure variability (BPV), measurement of serum malondialdehyde (MDA) and nutritional assessment. Results indicate that EVCO consumption had no adverse effects. The supplementation did not increase the caloric intake compared with placebo, and the dietary constituents were similar between groups, except for the saturated fats, especially lauric acid. The analysis of blood pressure indicated absence of antihypertensive effect of EVCO alone or combined with physical training. Furthermore, no effects on blood pressure variability and oxidative stress were observed in the supplemented hypertensive patients. Thus, despite the results observed in pre-clinical studies, the current clinical study did not provide evidence to support the use of coconut oil as an adjuvant in the management of hypertension in humans.     

Combined Effects of Exercise and Phytoanabolic Extracts in Castrated Male and Female Mice

Dry extracts from the Eurasian plants, Ajuga turkestanica, Eurycoma longifolia, and Urtica dioica have been used as anabolic supplements, despite the limited scientific data on these effects. To assess their actions on early sarcopenia signs, male and female castrated mice were supplemented with lyophilized extracts of the three plants, isolated or in association (named TLU), and submitted to resistance exercise. Ovariectomy (OVX) led to body weight increase and non-high-density cholesterol (HDL) cholesterol elevation, which had been restored by exercise plus U. dioica extract, or by exercise and TLU, respectively. Orchiectomy (ORX) caused skeletal muscle weight loss, accompanied by increased adiposity, being the latter parameter reduced by exercise plus E. longifolia or U. dioica extracts. General physical activity was improved by exercise plus herbal extracts in either OVX or ORX animals. Exercise combined with TLU improved resistance to fatigue in OVX animals, though A. turkestanica enhanced the grip strength in ORX mice. E. longifolia or TLU also reduced the ladder climbing time in ORX mice. Resistance exercise plus herbal extracts partly altered gastrocnemius fiber size frequencies in OVX or ORX mice. We provide novel data that tested ergogenic extracts, when combined with resistance exercise, improved early sarcopenia alterations in castrated male and female mice.     

Photobiomodulation therapy on expression of HSP70 protein and tissue repair in experimental acute Achilles tendinitis

Lasers in Medical Science - The aim of the present study was to investigate the effects of photobiomodulation (PBM) therapy on the expression of heat shock protein 70 (HSP70) and tissue repair in...     

Antimicrobial photodynamic therapy against Propionibacterium acnes biofilms using hypericin (Hypericum perforatum) photosensitizer: in vitro study

Lasers in Medical Science - Acne vulgaris is the most recurring skin condition in the world, causing great harm to the physical and psychological well-being of many patients. Antimicrobial...     

The influence of photobiomodulation on the temperature of the brachial biceps during muscle fatigue protocol

Lasers in Medical Science - Physical activity raises body temperature. However, the literature does not contain studies about whether the employment of hotobiomodulation (PMB) could significantly...     

Clearing the clouds: Case‐report and review of the literature

In peritoneal dialysis (PD), a cloudy dialysate is an alarming finding. Bacterial peritonitis is the most common cause, however, atypical infections and non‐infectious causes must be considered. A 46‐year‐old man presented with asthenia, paraesthesia, foamy urine and hypertension. Laboratory testing revealed severe azotaemia, anaemia, hyperkalaemia and nephrotic‐range proteinuria. Haemodialysis was started through a central venous catheter. Later, due to patient preference, a Tenckhoff catheter was inserted. Conversion to PD occurred 3 weeks later, during hospitalization for a presumed central line infection. A month later, the patient was hospitalized for neutropenic fever. He was diagnosed an acute parvovirus infection and was discharged under isoniazid for latent tuberculosis. Four months later, the patient presented with fever and a cloudy effluent. Peritoneal fluid (PF) cytology was suggestive of infectious peritonitis, but the symptoms persisted despite antibiotic therapy. Bacterial and mycological cultures were negative. No neoplastic cells were detected. Mycobacterium tuberculosis eventually grew in PF cultures, despite previous negative molecular tests. Directed therapy was then initiated with excellent response. Thus, facing a cloudy effluent, one must consider multiple aetiologies. Diagnosis of peritoneal tuberculosis is hampered by the lack of highly sensitive and specific exams. Here, diagnosis was only possible due to positive mycobacterial cultures.     

Hematoma subdural intracraneal tras punción dural accidental: caso clínico

Intracranial subdural hematoma is a rare, but potentially lethal complication of neuraxial procedures. Considering the high frequency of neuraxial techniques in the obstetric population, parturients are more susceptible to this fearful complication. The diagnosis is often masked and delayed because it shares similar clinical characteristics with posdural puncture headache, with headache being the most common symptom. This case report describes a timely diagnosis and successful management of an intracranial subdural hematoma, after unintentional dural puncture during labour epidural analgesia. Postpartum headache following epidural analgesia, remains a clinical challenge for the caring team, requiring a close follow-up and awareness for non-benign causes that require prompt management, avoiding devastating consequences.     

Donor Choriocarcinoma Transmission From Solid Organ Transplantation: A Case Report

Transplantation of any organ has some inherent risk of disease transmission, such as infection and malignancy. The present study aims to describe 2 cases of choriocarcinoma transmission after kidney and liver transplantation originating from the same patient. The donor was a 17-year-old woman who died of cerebral hemorrhage. Both organ recipients died of metastatic choriocarcinoma few months after the transplantation, within days after starting chemotherapy. Retrospective hCG (human chorionic gonadotropin hormone) analysis in donor's blood stored at the time of donation had a result of 9324 mIU/mL. Despite its rarity, clinicians should be aware of the risk of transplant-related choriocarcinoma from female donors in childbearing age. In some cases, hCG dosage should be performed before donation.     

Injectable semi rigid penile prosthesis: study in rabbits and future perspectives

BackgroundPenile prostheses are the third option in the treatment of erectile dysfunction, however, despite their proven effectiveness, the occurrence of infections, advanced age of patients and comorbidities are the main limiting factors for this treatment modality. In the continuous search for biointegrated, clinically durable and minimally invasive treatment options, a possible model of penile prosthesis was sought through the use of intracavernous bacterial cellulose (BC) gel, in an experimental model of orchiectomized rabbits.MethodsThirty adult New Zealand rabbits were equally distributed into three groups: BC; vehicle and control. Each group was then subdivided according to the follow-up time of 3 and 6 months. Bilateral orchiectomy was performed 3 weeks before injection in the BC and vehicle groups. Pachymetry measurements of the penile axis, diameter and length were performed in situ. Histomorphometry analyzes of the corpora cavernosa (CC), thickness of the tunica albuginea, cell density, collagen and elastic fibers post-injection were also performed, in addition to immunohistochemistry for newly formed vessels.ResultsThe implant of BC increased both the length and thickness of the penis three and six months after the last injection, with a consequent increase in the diameter of the CC. On the other hand, the filling effect was not observed in the control and vehicle groups, confirming the degradation of this tissue after orchiectomy and the effectiveness of BC as a filling agent. Histomorphometry analyzes corroborate the mass effect of BC integrated into the tissue, permeated by predominantly lymphomononuclear inflammatory infiltrate, multinucleated giant foreign body cells, fibroblasts, elastic fibers and newly formed vessels, without degradation or loss of volume, even after six months of implantation.ConclusionsBiocompatibility and biointegration to the host tissue make BC a prosperous penile filling material, with local application and minimally invasive.