Genetics

Neurocognitive impairments associated with human immunodeficiency virus (HIV) infection remain a considerable health issue for almost half the people living with HIV, despite progress in HIV treatment through combination antiretroviral therapy (cART). The pathogenesis and risk factors of HIV-associated neurocognitive disorder (HAND) are still incompletely understood. This is partly due to the complexity of HAND diagnostics, as phenotypes present with high variability and change over time. Our current understanding is that HIV enters the central nervous system (CNS) during infection, persisting and replicating in resident immune and supporting cells, with the subsequent host immune response and inflammation likely adding to the development of HAND. Differences in host (human) genetics determine, in part, the effectiveness of the immune response and other factors that increase the vulnerability to HAND. This review describes findings from studies investigating the role of human host g...

Over 1.5 billion people lack the skeletal muscle fast-twitch fibre protein α-actinin-3 due to homozygosity for a common null polymorphism (R577X) in the ACTN3 gene. α-Actinin-3 deficiency is detrimental to sprint performance in elite athletes and beneficial to endurance activities. In the human genome, it is very difficult to find single-gene loss-of-function variants that bear signatures of positive selection, yet intriguingly, the ACTN3 null variant has undergone strong positive selection during recent evolution, appearing to provide a survival advantage where food resources are scarce and climate is cold. We have previously demonstrated that α-actinin-3 deficiency in the Actn3 KO mouse results in a shift in fast-twitch fibres towards oxidative metabolism, which would be more "energy efficient" in famine, and beneficial to endurance performance. Prolonged exposure to cold can also induce changes in skeletal muscle similar to those observed with endurance training, and ch...

Chronic pain in the Ehlers-Danlos syndromes (EDS) is common and may be severe. According to one study, nearly 90% of patients report some form of chronic pain. Pain, which is often one of the first symptoms to occur, may be widespread or localized to one region such as an arm or a leg. Studies on treatment modalities are few and insufficient to guide management. The following is a discussion of the evidence regarding the underlying mechanisms of pain in EDS. The causes of pain in this condition are multifactorial and include joint subluxations and dislocations, previous surgery, muscle weakness, proprioceptive disorders, and vertebral instability. Affected persons may also present with generalized body pain, fatigue, headaches, gastrointestinal pain, temporomandibular joint pain, dysmenorrhea, and vulvodynia. Pain management strategies may be focused around treating the cause of the pain (e.g., dislocation of a joint, proprioceptive disorder) and minimizing the sensation of pain. Ma...

This paper provides a broad overview of the current state of archaeogenetic research in Arabia. We summarise recent studies of mitochondrial DNA and lactase persistence allele -13915*G in order to reconstruct the population histories of modern Arabs. These data, in turn, enable us to assess different scenarios for the peopling of the Pen- insula over the course of the Late Pleistocene and Early Holocene. The evidence sup- ports the posited existence of Arabian refugia, although it is inconclusive which (e.g. Persian Gulf basin, Yemeni highlands and/or Red Sea basin) was/were responsible for housing ancestral populations during the Last Glacial Maximum. Synthesising genetic and archaeological data sets, we conclude that a substantial portion of the present South Arabian gene pool derives from a deeply rooted population that underwent sig- nificant internal growth within Arabia some 12,000 years ago. At the same time, we interpret the disappearance of Nejd Leptolithic archaeological sites in southern Arabia around 8000 years ago to represent the termination of a significant component of the Pleistocene gene pool.

Callus induction from petiole explants has been achieved in Alocasia micholitziana `Green Velvet'. The highest percentage (71%) of explants inducing callus was obtained on MS medium supplemented with 0.5 μM 2,4-D and 0.5 μM kinetin in the dark after 4 months of culture. Shoots were regenerated at the highest frequency of 33.3% under light condition when 0.5 μM BA was added to MS medium with the average of 7.8±2.3 shoots per callus explant. The callus-derived shoots rooted on hormone free MS medium and within 4 weeks the plantlets were ready for acclimatization. The regenerated plants appeared morphologically similar to mother plants.

A autora apresenta no primeiro capitulo do livro, casos reais de dilemas éticos que envolvem não somente a relação medico-paciente, mas, também todas as implicações futuras nas relações familiares, ao revelar que determinado membro da família não é de fato filho biológico, e que naquela família existe um segredo que se revelado pode ter consequências inimagináveis. Uma situação que a própria autora descreve como uma “sinuca de bico”.

There are a large number of remedies in traditional medicine focused on relieving pain and inflammation. Flavanones have been a potential source in the search for leading compounds and biologically active components, and they have been the focus of much research and development in recent years. Eysenhardtia platycarpa is used in traditional medicine for the treatment of kidney diseases, bladder infections, and diabetes mellitus. Many compounds have been isolated from this plant, such as flavones, flavanones, phenolic compounds, triterpenoid acids, chalcones, sugars, and fatty acids, among others. In this paper, natural flavanone 1 (extracted from Eysenhardtia platycarpa) as lead compound and flavanones 1a–1d as its structural analogues were screened for anti-inflammatory activity using Molinspiration® and PASS Online in a computational study. The hydro alcoholic solutions (FS) of flavanones 1, 1a–1d (FS1, FS1a–FS1d) were also assayed to investigate their in vivo anti-inflammatory cu...

Violent behaviour appears to be the result of a complex net of interacting genetic as well as environmental factors. Both antisocial personality disorder (ASPD) and psychopathy are associated with a propensity owards violence, although there is some evidence that psychopathy may be associated with instrumental aggression, while ASPD is
more associated with reactive aggression. People with psychopathic personality are characterized by a constellation of traits including interpersonal affective features (e.g. lack of affect and emotion) and antisocial features (e.g. impulsive and aggressive behaviour). Cognitive and affective emotional processing deficits associated with brain
abnormalities, particularly structural and functional impairments in the orbitofrontal prefrontal cortex and amygdale, have been found in psychopathy. Frontal and temporal obe abnormalities are associated with violent behaviour, such that prefrontal deficits have
been associated with behavioural disinhibition, increased risk taking, and
impulsivity, whereas the temporal lobes, among others, are involved in affect regulation and sexual behaviour. Psychopathy has not traditionally been associated with generalized cognitive or intellectual dysfunctions, but rather with circumscribed deficits in specific neuropsychological domains. Based on research using neuropsychological assessments and other techniques, several cognitive characteristics appear to exist among subjects with psychopathy, such as cognitive inflexibility, attention deficits and inappropriate processing of contextual cues in
the environment. The neuroscience of psychopathy is a field undergoing rapid growth and, like any field in its nascent stages, is vulnerable to methodological inconsistencies and subsequent interpretive variations. Although psychopathy is a major area of research in psychology and
criminology, much remains unknown about its etiological underpinnings. Heterogeneity of the genetic and the neurocognitive findings
may be partly due to the existence of different subtypes of psychopaths. Future studies need to examine the relationships between genes and interpersonal, behavioural and neuropsychological features of psychopathy, in addition and in combination with their role in legal decision-making.