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1.
Am J Med Genet A ; 194(3): e63416, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37933701

RESUMO

Schizophrenia (SCZ) is a well-studied neuropsychiatric condition that has been shown to have a high degree of genetic heritability. Still, little data on the specific genetic risk variants associated with the disease exists. Classification of the SCZ phenotype into SCZ-related endophenotypes is a promising methodology to parse out and elucidate the specific genetic risk variants for each. Here, we present a series of 17 previously reported individuals and a new proband with similar SCZ-related neuropsychiatric characteristics and shared brain imaging findings. Unsurprisingly, these individuals shared classic psychiatric features of SCZ. Interestingly, we also identified shared neuropsychiatric features in this series of individuals that had not been highlighted previously. A consistently decreased IQ, memory impairment, sleep and speech disturbances, and attention deficits were commonly reported findings. The brain imaging findings among these individuals also consistently showed posterior vermis predominant cerebellar hypoplasia (CBLH-V). Most individuals' diagnoses were initially described as Dandy-Walker malformation; however, our independent review of imaging suggests a more consistent pattern of posterior vermis predominant cerebellar hypoplasia rather than true Dandy-Walker malformation. While the specific genetic risk variants for this endophenotype are yet to be described, the aim of this paper is to present the shared neuropsychiatric features and consistent, symmetrical brain image findings which suggest that this subset of individuals comprises an endophenotype of SCZ with a high genetic solve rate.


Assuntos
Cerebelo/anormalidades , Síndrome de Dandy-Walker , Malformações do Sistema Nervoso , Transtornos Psicóticos , Esquizofrenia , Humanos , Síndrome de Dandy-Walker/diagnóstico , Esquizofrenia/diagnóstico por imagem , Esquizofrenia/genética , Cerebelo/diagnóstico por imagem , Deficiências do Desenvolvimento
2.
PeerJ ; 11: e14575, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36718440

RESUMO

Apex predators ideally require vast intact spaces that support sufficient prey abundances to sustain them. In a developing world, however, it is becoming extremely difficult to maintain large enough areas to facilitate apex predators outside of protected regions. Free-roaming leopards (Panthera pardus) are the last remaining apex predator in the Greater Cape Floristic Region, South Africa, and face a multitude of threats attributable to competition for space and resources with humans. Using camera-trap data, we investigated the influence of anthropogenic land modification on leopards and the availability of their natural prey species in two contrasting communities-primarily protected (Cederberg) and agriculturally transformed (Piketberg). Potential prey species composition and diversity were determined, to indicate prey availability in each region. Factors influencing spatial utilisation by leopards and their main prey species were also assessed. Estimated potential prey species richness (Cederberg = 27, Piketberg = 26) and diversity indices (Cederberg-H' = 2.64, Ds = 0.90; Piketberg-H' = 2.46, Ds = 0.89), supported by both the Jaccard's Index (J = 0.73) and Sørensen's Coefficient (CC = 0.85), suggested high levels of similarity across the two regions. Main leopard prey species were present in both regions, but their relative abundances differed. Grey rhebok, klipspringer, and rock hyrax were more abundant in the Cederberg, while Cape grysbok, Cape porcupine, chacma baboon, and common duiker were more abundant in Piketberg. Leopards persisted across the agriculturally transformed landscape despite these differences. Occupancy modelling revealed that the spatial dynamics of leopards differed between the two regions, except for both populations preferring areas further away from human habitation. Overall, anthropogenic factors played a greater role in affecting spatial utilisation by leopards and their main prey species in the transformed region, whereas environmental factors had a stronger influence in the protected region. We argue that greater utilisation of alternative main prey species to those preferred in the protected region, including livestock, likely facilitates the persistence of leopards in the transformed region, and believe that this has further implications for human-wildlife conflict. Our study provides a baseline understanding of the potential direct and indirect impacts of agricultural landscape transformation on the behaviour of leopards and shows that heavily modified lands have the potential to facilitate mammalian diversity, including apex predators. We iterate that conservation measures for apex predators should be prioritised where they are present on working lands, and encourage the collaborative development of customised, cost-effective, multi-species conflict management approaches that facilitate coexistence.


Assuntos
Panthera , Animais , Humanos , África do Sul , Comportamento Predatório , Animais Selvagens , Biodiversidade , Papio ursinus
3.
Schizophr Bull ; 49(2): 239-243, 2023 03 15.
Artigo em Inglês | MEDLINE | ID: mdl-36719136

RESUMO

Childhood-onset schizophrenia (COS) is a rare and severe form of schizophrenia with an estimated prevalence of 1/10,000. Schizophrenia and Autism spectrum disorder (ASD) have shared phenotypic features and shared genetic etiology. There is growing research surrounding the co-occurrence of psychomotor syndromes like catatonia with neurodevelopmental disorders like ASD or psychiatric disorders like schizophrenia. In 2013, Shorter and Wachtel described a phenomenon of the 'Iron Triangle' where COS, ASD, and catatonia often co-occur. The Iron Triangle theory is based on observation of historical case literature, which showed that all three diagnoses in the Iron Triangle were routinely assigned to children and adolescents. The pattern of this "Iron Triangle" suggests there may be a single underlying pathology resulting in a unique mixed form of catatonia, autism, and psychosis. We describe the case of a boy with sequential development of COS, ASD, and catatonia who also has syndromic facial and musculoskeletal features. This case highlights overlapping diagnostic features of these three disorders and can help us better understand how "hidden" features of catatonia may occur in patients with COS or ASD but go unrecognized, because they are grouped as features under autism/schizophrenia rather than a distinct diagnosis of catatonia. Further study is warranted to elucidate if this phenotypic pattern constitutes a new single diagnosis that is not well understood, an endophenotype of schizophrenia, or if this is the result of phenomenological overlap between catatonia, ASD, and COS.


Assuntos
Transtorno do Espectro Autista , Catatonia , Esquizofrenia Infantil , Esquizofrenia , Masculino , Criança , Adolescente , Humanos , Esquizofrenia/epidemiologia , Transtorno do Espectro Autista/complicações , Transtorno do Espectro Autista/genética , Catatonia/diagnóstico , Ferro
4.
Sci Rep ; 12(1): 16768, 2022 10 06.
Artigo em Inglês | MEDLINE | ID: mdl-36202901

RESUMO

Group-living animals that live in complex social systems require effective modes of communication to maintain social cohesion, and several acoustic, olfactory and visual signaling systems have been described. Individuals need to discriminate between in- and out-group odour to both avoid inbreeding and to identify recipients for reciprocal behaviour. The presence of a unique group odour, identified in several social mammals, is a proposed mechanism whereby conspecifics can distinguish group from non-group members. African elephants (Loxodonta africana) live in stable, socially complex, multi-female, fission-fusion groups, characterized by female philopatry, male dispersal and linear dominance hierarchies. Elephant social behaviour suggests that individuals use odour to monitor the sex, reproductive status, location, health, identity and social status of conspecifics. To date, it is not clear what fixed or variable information is contained in African elephant secretions, and whether odour encodes kinship or group membership information. Here we use SPME GC-MS generated semiochemical profiles for temporal, buccal and genital secretions for 113 wild African elephants and test their relationship with measures of genetic relatedness. Our results reveal the existence of individual identity odour profiles in African elephants as well as a signature for age encoded in temporal gland and buccal secretions. Olfactory signatures for genetic relatedness were found in labial secretions of adult sisters. While group odour was not correlated with group genetic relatedness, our analysis identified "group membership" as a significant factor explaining chemical differences between social groups. Saturated and short-chain fatty acids (SCFAs), derived from key volatile compounds from bacterial fermentation, were identified in temporal, buccal and genital secretions suggesting that group odour in African elephants may be the result of bacterial elements of the gut microbiome. The frequent affiliative behavior of African elephants is posited as a likely mechanism for bacterial transmission. Our findings favour flexible group-specific bacterial odours, which have already been proposed for other social mammals and present a useful form of olfactory communication that promotes bond group cohesion among non-relatives in fission-fusion mammals.


Assuntos
Elefantes , Perfumes , Animais , Elefantes/genética , Feminino , Masculino , Odorantes , Feromônios , Comportamento Social
5.
Future Cardiol ; 18(9): 679-686, 2022 09.
Artigo em Inglês | MEDLINE | ID: mdl-35975839

RESUMO

In pediatrics, conventional transvenous and epicardial pacemaker systems carry complications, such as lead distortion due to growth and activity, in addition to lead and pocket complications. A retrospective review of pediatric leadless pacing at the University of Minnesota Masonic Children's Hospital (MN, USA) from 2018 through 2021 was performed. Diagnoses, rationale for pacing, demographics, pacing thresholds and longevity of devices were recorded. Twelve leadless pacemaker insertions and one removal were performed successfully in patients weighing 19-90 kg. Six patients had Micra implantation via the internal jugular vein without surgical cut-down. Up to 3 years of follow-up were noted, with median follow-up of 22 months. No late complications occurred. Leadless pacemaker implantation and early retrieval were feasible in pediatric patients.


Pacemaker placement has been the standard of care for patients when the top and bottom chambers of the heart are not communicating electrically. Patients can either be born with this, or it can happen after heart surgery. Traditional pacemaker technique involves placing wires (leads) through veins to the heart and surgically implanting a generator in the body. This carries a risk of complications, mainly lead dislocation and fracture with growth and activity. The Micra leadless pacemaker mitigates this risk and can be implanted into the muscle of the right ventricle. There are currently only small case series and reports in the literature on Micra pacemaker implantation in pediatric patients with congenital heart disease. We implanted 12 such devices in 11 pediatric patients weighing 19­90 kg. Six of these implantations were deployed using the internal jugular vein and were successful. One patient had a pericardial effusion at the time of implantation. Overall, leadless pacemaker implantation in the pediatric population with congenital heart disease is feasible, but further data are needed to assess long-term safety.


Assuntos
Veia Femoral , Marca-Passo Artificial , Criança , Desenho de Equipamento , Humanos , Implantação de Prótese , Estudos Retrospectivos , Resultado do Tratamento
6.
Indian Pacing Electrophysiol J ; 22(5): 238-240, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35661776

RESUMO

JET (junctional ectopic tachycardia) is a complicated and rare form of supraventricular tachycardia that is associated with a high rate of morbidity and mortality. Pharmaceutical management can be insufficient, and cryoablation has been described for congenital JET management. We describe cryoablation for congenital JET in an prior 32-week gestational aged, 18-month-old (corrected 16-month-old) with no JET post-ablation with normal Holter and follow-up within 6 months following cryoablation. This report demonstrates the safety and feasibility of cryoablation in patients as young as 18 months old.

7.
Foods ; 9(5)2020 May 15.
Artigo em Inglês | MEDLINE | ID: mdl-32429300

RESUMO

The common warthog (Phacochoerus africanus) has historically been hunted and consumed by rural communities throughout its distribution range in Africa. This study aims to develop a processed product from warthog meat in the form of back bacon (Longissimus thoracis et lumborum) as a healthy alternative meat product and to determine its chemical and sensory characteristics derived from adult and juvenile boars and sows. The highest scored attributes included typical bacon and smoky aroma and flavor, and salty flavor, as well as tenderness and juiciness. Neither sex nor age influenced the bacon's chemical composition; the bacon was high in protein (~29%) and low in total fat (<2%). Palmitic (C16:0), stearic (C18:0), linoleic (C18:2ω6), oleic (C18:1ω9c), and arachidonic (C20:4ω6) were the dominant fatty acids. There was an interaction between sex and age for the PUFA:SFA ratio (p = 0.01). The differences between sex and age class are considered negligible regarding the overall profile and healthiness of the bacon.

8.
PLoS One ; 14(12): e0226505, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31869351

RESUMO

Nile crocodiles are apex predators widely distributed in sub-Saharan Africa that have been viewed and managed as a single species. A complex picture of broad and fine-scale phylogeographic patterns that includes the recognition of two species (Crocodylus niloticus and Crocodylus suchus), and the structuring of populations according to river basins has started to emerge. However, previous studies surveyed a limited number of samples and geographical regions, and large areas of the continent remained unstudied. This work aimed at a fine scale portrait of Nile crocodile populations at the fringes of their geographic distribution in southern Africa. Wild and captive individuals were sampled across four major river systems (Okavango, Lower Kunene, Lower Shire and Limpopo) and the KwaZulu-Natal region. A multi-marker approach was used to infer phylogeographic and genetic diversity patterns, including new and public mitochondrial data, and a panel of 11 nuclear microsatellites. All individuals belonged to a phylogenetic clade previously associated with the C. niloticus species, thus suggesting the absence of C. suchus in southern Africa. The distribution of mitochondrial haplotypes indicated ancestral genetic connectivity across large areas, with loss of diversity along the north-south axis. Genetic variation partitioned the populations primarily into western and eastern regions of southern Africa, and secondarily into the major river systems. Populations were partitioned into five main groups corresponding to the Lower Kunene, the Okavango, the Lower Shire, and the Limpopo rivers, and the KwaZulu-Natal coastal region. All groups show evidence of recent bottlenecks and small effective population sizes. Long-term genetic diversity is likely to be compromised, raising conservation concern. These results emphasize the need for local genetic assessment of wild populations of Nile crocodiles to inform strategies for management of the species in southern Africa.


Assuntos
Jacarés e Crocodilos/classificação , Jacarés e Crocodilos/genética , Variação Genética , África Austral/epidemiologia , Jacarés e Crocodilos/crescimento & desenvolvimento , Animais , DNA Mitocondrial/análise , DNA Mitocondrial/genética , Demografia , Haplótipos , Repetições de Microssatélites/genética , Filogenia , Filogeografia/estatística & dados numéricos , Densidade Demográfica , Rios
9.
J Ethnobiol Ethnomed ; 15(1): 34, 2019 Jul 09.
Artigo em Inglês | MEDLINE | ID: mdl-31288841

RESUMO

BACKGROUND: The use of animals and animal-derived materials in traditional medicine constitutes an important part of the belief systems of indigenous African cultures. It is believed to be rapidly expanding in South Africa, where traditional healers are estimated to outnumber western doctors by 2000:1 in some areas, with an overall clientele consisting of 60-80% of South African citizens. Despite concerns about the impact of the trade in traditional medicine on biodiversity, there has been only limited research on this topic in South Africa. METHODS: Traditional Xhosa and Sotho healers operating from impoverished, rural communities in the Boland Region of the Western Cape Province were consulted to provide a comprehensive inventory of the number and frequency of animals used and sold. Species richness estimators, diversity indices, and a relative cultural importance (RCI) index were used to highlight species of concern and assess market dynamics. RESULTS: A total of 26 broad use categories for 12 types of animal parts or products from 71 species or morphospecies were recorded. The most commonly sold items were skin pieces, oil or fat, and bones. Results showed that leopard, chacma baboon, Cape porcupine, monitor lizard species, puff adder, African rock python, and black-backed jackal were the species most used in the traditional medicinal trade. CONCLUSIONS: This study extends existing knowledge on the trade of animals in South African healing practices and provides the first attempt in the Western Cape to quantify wildlife use for cultural traditions. The results have relevance for setting conservation priorities and may assist in effective policy development inclusive of ecological sustainability priorities, as well as cultural demands.


Assuntos
Biodiversidade , Medicinas Tradicionais Africanas/métodos , Zoologia/métodos , Animais , Etnobotânica , Feminino , Humanos , Masculino , Plantas Medicinais , Medição de Risco , População Rural , África do Sul , Resultado do Tratamento
10.
Meat Sci ; 145: 266-272, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-29982081

RESUMO

Warthogs are hunted for trophies and damage reprisal whilst the meat is consumed. Little is known about the quality profile of the meat, therefore, this study investigated the effect of age (yearlings and adult) and sex on the sensory, physical, and chemical attributes of cooked meat. The meat was high in protein (~32%) and low in total fat (< 2%), while the meat from yearlings tended to be tenderer than adults. Age appeared to have a more pronounced influence than sex on the sensory attributes. Warthog meat had a pork aroma and flavour. Undesirable odours and flavours were described as sour/sweaty and fishy, and adults differed from yearlings regarding sour/sweaty (P = .025) and fishy aromas (P = .006), and fishy flavours (P = .045). Small differences (< 0.5 mg/g) in palmitoleic (P = .047) and arachidonic (P = .038) acids were found between adults and yearlings. Warthog meat can be regarded as a lean and healthy source of protein.


Assuntos
Animais Selvagens , Culinária , Carne/análise , Valor Nutritivo , Odorantes , Suínos , Paladar , Animais , Ácido Araquidônico/análise , Gorduras na Dieta/análise , Proteínas Alimentares/análise , Ácidos Graxos Monoinsaturados/análise , Feminino , Humanos , Masculino , Estresse Mecânico
11.
Meat Sci ; 114: 103-113, 2016 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-26771142

RESUMO

The study compared the chemical and sensory characteristics and consumer preference of a semi-dried, cured meat product, cabanossi, produced with warthog meat and with domestic pork. The warthog and pork cabanossi had similar total moisture (59.0%±2.07 and 54.3%±1.26) and protein (26.3%±2.20 and 24.2%±2.15) contents, while the warthog cabanossi was lower in total fat content (6.9%±1.01) compared to pork cabanossi (13.7%±1.77, P=0.007). Descriptive sensory analysis found that the warthog cabanossi appeared darker red (P=0.001) and less fatty (P=0.001), while the pork cabanossi had a higher overall pork flavour (P=0.001). There were no differences in consumer preference of the appearance and taste between the two types of cabanossi, while the majority of consumers (91%) supported the use of game meat in meat products. The study concluded that warthog meat can be used in processed products without compromising the associated technical or organoleptic properties.


Assuntos
Animais Domésticos , Animais Selvagens , Comportamento do Consumidor , Gorduras na Dieta/análise , Proteínas Alimentares/análise , Produtos da Carne/análise , Paladar , Animais , Cor , Manipulação de Alimentos/métodos , Humanos , Valor Nutritivo , Fumaça , Suínos , Água/análise
12.
J Anim Ecol ; 82(1): 155-65, 2013 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-22963590

RESUMO

Crocodile populations are size-structured, and for populations that are subject to harvesting, removal is typically size selective. For this reason, size-structured matrix models are typically used to analyse the dynamics of crocodile populations. The boundaries between the size classes used to classify individuals in these models are typically chosen arbitrarily. This is problematic because results can depend upon the number and width of size classes. The recent development of continuous character population models termed integral projection models (IPM) has removed the need to arbitrarily classify individuals. These models are yet to be applied to harvested animal populations. Using information obtained from the literature, we develop an IPM for crocodiles. We use perturbation analyses to investigate how altering size-specific demographic rates influences the population growth rate and the strength of selection on snout to vent length. We find that perturbations can lead to complex responses. Sensitivity analysis to population growth and fertility selection reveals that the smallest animals and the sizes of early breeding individuals and their eggs may have more influence on these population biology parameters than previously thought. Although our model is relatively simple, our results show that IPM can be used to gain theoretical insight into the possible consequences of altering size-specific demographic rates on the population and evolutionary ecology of harvested populations.


Assuntos
Jacarés e Crocodilos/fisiologia , Modelos Biológicos , Animais , Tamanho Corporal , Feminino , Dinâmica Populacional
13.
Isotopes Environ Health Stud ; 48(3): 439-56, 2012 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-22462522

RESUMO

Nile crocodiles undergo a three to five order of magnitude increase in body size during their lifespan. This shift coincides with a change in resource and habitat use which influences the strength, type and symmetry of interactions with other species. Identifying size-specific crocodile groups displaying similar traits is important for conservation planning. Here, we illustrate how stable carbon (δ(13) C) and nitrogen (δ(15) N) isotope analysis of scute keratin, together with breakpoint modelling analysis can be used to characterise ontogenetic niche shifts. Using a sample set of 238 crocodiles from the Okavango Delta, Botswana (35-463 cm total length), we found prominent size-related changes in the scute keratin δ(13) C and δ(15) N profiles close to 40 and 119 cm snout-vent length. The first shift corroborated the findings of a traditional stomach-content study conducted on the same population at the same time, and the second conformed to known crocodile ecology. This approach can be used as a first approximation to identify size-specific groups within crocodile populations, and these can then be investigated further using isotopic or other methods.


Assuntos
Jacarés e Crocodilos/fisiologia , Queratinas/análise , Animais , Tamanho Corporal , Botsuana , Isótopos de Carbono , Isótopos de Nitrogênio , Especificidade da Espécie
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