Emerging and Traditional Organic Markers in Areas with Multiple Anthropogenic Activities: Development of an Analytical Protocol and Its Application in Environmental Assessment Studies

Bulletin of Environmental Contamination and Toxicology - This work describes the development of an analytical protocol combining cleanup by liquid–solid extraction and GC–MS for the...     

Comparison of Peripheral Blast Clearance and Day 14 Bone Marrow Biopsy in Predicting Remission Status and Survival After 7+3 Induction in Acute Myeloid Leukemia

Introduction

Induction chemotherapy with cytarabine and an anthracycline (7+3) remains the standard of care for acute myeloid leukemia (AML).

KIF1A‐related disorders in children: A wide spectrum of central and peripheral nervous system involvement

KIF1A‐related disorders (KRD) were first described in 2011 and the phenotypic spectrum has subsequently expanded to encompass a range of central and peripheral nervous system involvement. Here we present a case series demonstrating the range of clinical, neurophysiological, and radiological features which may occur in childhood‐onset KRD. We report on all the children and young people seen at a single large tertiary centre. Data were collected through a retrospective case‐notes review. Twelve individuals from 10 families were identified. Eight different mutations were present, including four novel mutations. Two patients displayed a very severe phenotype including congenital contractures, severe spasticity and/or dystonia, dysautonomia, severe sensorimotor polyneuropathy and optic atrophy, significant white matter changes on brain MRI, respiratory insufficiency, and complete lack of neurodevelopmental progress. The remaining 10 patients represented a spectrum of severity with common features including a movement disorder with spasticity and/or dystonia, subtle features of dysautonomia, sensory axonal neuropathy, varying degrees of optic atrophy and of learning and/or behavioural difficulties, and subtle or absent—but sometimes progressive—changes in white matter on MRI. Epilepsy was common among the more severely affected children. This case series demonstrates that KRD comprise a range of neurological disorders, with both the milder and the more severe forms combining central and peripheral (including autonomic) nervous system deficits.     

Exuberant case of verrucous cutaneous leishmaniasis

Cutaneous leishmaniasis represents a public health problem that affects 85 countries. It is an endemic disease in Brazil, having an important socioeconomic impact. An exuberant case of cutaneous leishmaniasis is reported herein. A 28-year-old male patient with Down syndrome had had verrucous plaques on the back for over a year, with progressive growth. PCR of a lesion sample was positive for Leishmania braziliensis. The patient's condition was classified as atypical cutaneous leishmaniasis. He was successfully treated with amphotericin B and miltefosine. The treatment remains a challenge, given the toxicity and low cure rate of the currently recommended drugs.     

Reconstruction of parietal bone defects with adiposederived mesenchymal stem cells. Experimental study

Purpose:This study assessed the regeneration potential of mesenchymal stem cells (MSC) from adipose tissue associated with platelet-rich plasma (PRP) in bone regeneration.Methods:Thirty Wistar rats (Rattus norvegicus albinos) were divided into five groups (according to the grafting material and time to euthanasia): (1) autograft - 14 days (control), (2) autograft - 28 days (control), (3) MSC + PRP - 14 days, (4) MSC + PRP + papaverine - 14 days and (5) MSC + PRP + papaverine - 28 days. After euthanasia, the graft was removed and histological slides were prepared. They were assessed by a blinded pathologist using a previously published histological scale as parameter.Results:There was some degree of neoformed bone trabeculae (NBT) in 93.3% of the samples, as well as osteoblastic activity (OA). The autograft groups (14 and 28 days) had higher levels in the formation of bone trabeculae. Nonparametric data were analyzed using the Wilcoxon-Mann-Whitney test and proved not to be statistically significant at p < 0.05.Conclusions:Experimental parietal bone reconstruction, combining MSC, PRP and papaverine presented regeneration in all groups with no significant difference among them.Key words: Bone Regeneration, Platelet-Rich Plasma, Tissue Engineering, Rats     

RAR‐related orphan receptor A: One gene with multiple functions related to migraine

AimsRAR‐related orphan receptor (RORA) involves in regulation of several biological processes including inflammation and circadian rhythm that probably are involved in migraine pathophysiology. In the current study, the association between RORA rs11639084 and rs4774388 variants and susceptibility to migraine were investigated in a sample of Iranian migraine patients for the first time.MethodsIn a case‐control study including 400 participants, 200 migraineurs and 200 healthy controls, genotyping of RORA rs4774388 and rs11639084 polymorphisms was performed using tetra‐primer amplification refractory mutation system–polymerase chain reaction (TP‐ARMS‐PCR).ResultsThe distribution of rs4774388 C/T and T/T genotypes differed significantly between the studied groups. Moreover, an association was observed between rs4774388 and migraine under the recessive mode of inheritance (P = 0.002; OR = 1.89.; CI = 1.25‐2.87). The distribution of rs11639084 alleles and genotypes was not significantly different between migraineurs and healthy controls.ConclusionCurrent results suggest RORA, as a molecular link, may explain inflammation and circadian rhythm dysfunction in migraine. Further studies in different ethnicities are required to confirm the function of RORA in migraine development.     

Sexual dimorphism in shape and size of the neurocranium

International Journal of Legal Medicine - Sex identification is a primary step in forensic analysis of skeletal remains. The accuracy of sex estimation methods greatly depends on the sexual...     

Changes in bone mass and body composition after bariatric surgery

Abstract

Aim: To analyze the effects of body weight loss on bone mineral density (BMD) on hip (Hip BMD) and lumbar spine (Lumbar BMD) after six months of bariatric surgery. Bariatric surgery is an effective treatment for morbid obesity. Nonetheless, there are scant data on the effect of weight bearing on bone structure.

Material and methods: Seventeen obese women aged 41.2?±?11.3 yrs. who underwent Roux-en-Y gastric bypass (RYGB) were included. Body composition assessments were performed through dual-energy X-ray absorptiometry immediately before and after 6-months RYGB. Data collected pre- and post-RYGB included total body weight, body mass index (BMI), lean body mass (LM), fat mass (FM) and bone mineral content. The pre- (PRE) and post-operative (POST) results were compared.

Results: Lumbar BMD POST presented a non-significant loss of 1.8% whereas Hip BMD POST showed a significant loss of 17.8%. The analysis demonstrated that BMI and LM PRE explained 26% and 49%, respectively, of Hip BMD PRE variability. In addition, LM POST explained 30% of hip BMD POST variability and was not significant for Lumbar BMD POST.

Conclusions: Obesity and rapid weight loss showed direct influence in Hip BMD after six months of bariatric surgery. However, its effect on the lumbar spine area was smaller due to the higher capacity of the spine to dissipate loads through its curvature.