Total mercury (THg) and selenium (TSe) concentrations were determined in California sea lion (Zalophus californianus) lanugo from the Gulf of California in 2021 and 2022. Relationships with sex, ...morphometrics, and year were evaluated. Following toxicological thresholds of concern for piscivorous mammals, most pups had a THg < 10 ppm, one pup (2021) had a THg > 20 ppm, no pups had a THg > 30 ppm. Females had significantly higher TSe than males; sex did not influence THg. THg and TSe in 2022 were significantly higher in the general population and male cohorts compared to 2021. Significant negative correlations were observed between THg, TSe, and morphometrics (2021). These results indicate that, compared to other pinniped species, regional California sea lions may have a decreased likelihood of experiencing Hg-related adverse health effects. Year-related changes in element concentrations suggest continued monitoring of this population to assess pinniped, environmental, and potentially, human health.
The increased occurrence of ichthyotoxic blooms of
Chattonella
and
Margalefidinium
species has led to mass fish kills causing multi-million dollar economic losses in diverse marine environments. ...Their ichthyotoxicity may be driven by a synergistic effect of diverse chemical compounds, of which little is understood in terms of production and biological activity. This study analyzed the growth rates, superoxide radical (O
2
●−
) production rate, lipid peroxidation (TBARS) levels, and hemolytic activity of the ichthyotoxic raphidophytes
Chattonella
complex (
C.
var.
marina
,
C.
var.
ovata
,
C.
var.
antiqua
),
C. subsalsa
and the dinoflagellate
Margalefidinium polykrikoides
. Growth interactions between
Chattonella
and
M
.
polykrikoides
were also analyzed in bi-algal cultures.
Chattonella
strains exhibited higher growth rates than
M
.
polykrikoides
in monocultures. Highest O
2
●−
production rate and TBARS levels in cells occurred in the early exponential growth phase, where
M
.
polykrikoides
showed higher values compared with
Chattonella
strains. Highest hemolytic activity associated to higher cell abundance was caused by
M
.
polykrikoides
followed by raphidophytes during the stationary and exponential growth phase, respectively. Of the three
Chattonella
strains, only
C. subsalsa
growth was inhibited when grown in bi-algal cultures with
M. polykrikoides
. In conclusion, this study supports an ecological linkage between cell growth conditions and a dynamic production of O
2
●−
and/or hemolysins, which may mediate its ichthyotoxicity. However, the potential involvement in mass fish kills and ecological implications for local trophic webs remains to be further elucidated.
Few studies have analyzed the indicators of oxidative stress in marine mammals following exposure to lipopolysaccharides (LPS); sex and maturity-related differences have not been explored. The ...objective of this study was to compare the indicators of oxidative stress following exposure to LPS for 24 and 48 h in isolated Pacific bottlenose dolphin (Tursiops truncatus; N = 12) leukocytes in relation to sex and maturity stage, using spectrophotometry. Following 48 h under experimental conditions (10 μg LPS mL−1), the leukocytes from males (n = 5) produced significantly more superoxide radical (O2•-; F (1, 8) = 13.965, p = 0.006) and displayed significantly greater activities of catalase (CAT; F (1, 8) = 9.465, p = 0.015) and glutathione S-transferase (GST; p = 0.028) compared to the leukocytes from females (n = 7). Following 48 h under experimental conditions, maturity-stage did not significantly influence the indicators of oxidative stress. Mature bottlenose dolphins (n = 7) had a significantly higher average daily dietary intake compared to immature bottlenose dolphins (n = 5; F (1, 10) = 5.825, p = 0.036). These results suggest that sex-related strategies for coping with a proinflammatory challenge may be present within the leukocytes from bottlenose dolphins, while potential maturity stage-related strategies require further investigation.
•Effect of sex and maturity stage in isolated bottlenose dolphin leukocytes was analyzed.•Oxidative stress indicators were quantified following exposure to LPS for 24 and 48 h.•Sex-related strategies for coping with a proinflammatory challenge were found.•Potential maturity stage-related strategies require further investigation.
The most frequent mutations associated with rifampin and isoniazid
resistance in Mycobacterium are the substitutions at codons 531 and 315
in the rpoB and katG genes, respectively. Hence, the aim of ...this study
was to characterize these mutations in Mycobacterium isolates from
patients suspected to be infected with drug-resistant (DR) pulmonary
tuberculosis (TB) in Veracruz, Mexico. Drug susceptibility testing of
25 clinical isolates revealed that five were susceptible while 20 (80%)
were DR (15% of the annual prevalence for Veracruz). Of the DR
isolates, 15 (75%) were resistant to rifampin, 17 (85%) to isoniazid
and 15 (75%) were resistant to both drugs (MDR). Sequencing analysis
performed in the isolates showed that 14 (93%) had mutations in the
rpoB gene; seven of these (47%) exhibited a mutation at 531
(S→L). Ten (58%) of the 20 resistant isolates showed mutations in
katG; nine (52%) of these 10 exhibited a mutation at 315 (S→T).
In conclusion, the DR profile of the isolates suggests a significant
number of different DR-TB strains with a low frequency of mutation at
codons 531 and 315 in rpoB and katG, respectively. This result leads us
to consider different regions of the same genes, as well as other genes
for further analysis, which is important if a genetic-based diagnosis
of DR-TB is to be developed for this region.
Strains of raphidophytes from different regions of the Gulf of California were established for identification and biochemical description. Raphidophyte in our coasts have been traditionally ...identified based on microscopic observations, a biochemical analyses of strains present in our coast is needed for a more detailed characterization and species confirmation. Strains were identified by morphological observations and sequencing of the 5.8S and COI regions. Cells were cultivated in modified f/2 media at 20°C with a light–dark cycle (12 h:12 h) and 150 μmol m
−2
s
−1
light intensity. Pigments were identified by HPLC, brevetoxins by LC–MS/MS, fatty acids by gas chromatography, superoxide radicals by spectrophotometry, and lipid peroxidation by the determination of thiobarbituric acid reactive substances. Strains were identified as
Chattonella subsalsa
,
C. marina
, and
Fibrocapsa japonica.
In all strains, the main pigment was chlorophyll
a
, followed by fucoxanthin, chlorophyll
c1
and
c2
, violaxanthin, β-carotene, and diadinoxanthin. Strains were tested for PbTx-1, PbTx-2, PbTx-3, PbTx-6, PbTx-9, PbTx-carboxylic acid, brevenal, and brevisin; none were detected. All strains presented superoxide radical production and lipid peroxidation. The main fatty acids were 18:4 (n-3) and 20:5 (n-3). Strains had typical fatty acid composition for raphidophytes and produced brevetoxin-like compounds, had superoxide radical production, and lipid peroxidation. With this contribution, we confirm the presence of
C. subsalsa
,
C. marina
and
F. japonica
in the Gulf of California.
Lamellar ichthyosis (LI) is an autosomal recessive congenital ichthyosis characterized by generalized dry skin and severe scaling. It is caused by biallelic mutations in the TGM1 gene, however ...molecular data from non-Caucasian populations are limited. Results of genetic-molecular analysis of a group of LI pedigrees originating from two close small populations from south Mexico are presented. LI affected individuals belonging to 9 apparently unrelated families were studied. Exome sequencing or Sanger sequencing in probands from each family was carried out. Furthermore, DNA from 294 unaffected subjects from one of the communities were Sanger sequenced to determine the carrier frequency of the c.427C > T TGM1 variant. Five different TGM1 pathogenic variants, either in homozygous or in compound heterozygous state, were demonstrated in affected subjects. The two most common variants were c.427C > T (p.Arg143Cys) and c.1159+1G > T. A novel c.1645+1G > T TGM1 pathogenic allele was recognized. Carrier frequency analysis identified a total of 23 individuals heterozygous for the c.427C > T variant, predicting a prevalence of 78 carriers per 1000 inhabitants in the community. A high TGM1 allelic heterogeneity with 5 different LI-causing alleles in a limited geographic area was demonstrated. While the occurrence of homozygosity for a founder mutation is expected in small populations with high frequency of a particular autosomal recessive disorder, the occurrence of multiple pathogenic alleles has been previously described, a situation known as the Reúnion paradox. Our results expand the current knowledge of the mutational spectrum of TGM1-linked LI.
Abstract Faced with the uncertainty of whether the vaccines against Covid-19 are effective or not and faced with living or dying, it is important to know the perception and expectation of their ...acceptance. The main aim of the study to analyze the perception and expectation of the vaccine against Covid- 19 that South American families have in an urban area of De Pasco. Descriptive, cross-sectional study, simple random sampling of 197 families. The participants were recruited digitally through a neighborhood leadership and an online survey was applied with prior consent. The logistic regression analysis was performed in EPIDAT 4.1 with a significance level of 5%. Regarding the desire to be vaccinated, it is worth noting that a family member died from the coronavirus, hence the health personnel must continue with the preventive promotional work of vaccination in order to obtain favorable results in the entire population. The majority (100%) have a favorable perception and expectation about the vaccine against Covid- 19 ( X c 2=132.83) and the p-value (0.00); As regards the desire to be vaccinated, it is worth noting having had a family member die from the coronavirus, hence the health personnel must continue with the preventive promotional work of vaccination in order to obtain favorable results in the entire population.
Resumo Diante da incerteza quanto à eficácia das vacinas contra a Covid-19 e diante da possibilidade de viver ou morrer, é importante conhecer a percepção e a expectativa de sua aceitação por parte da população. O objetivo principal do presente estudo é analisar a como a vacina contra a Covid-19 é vista pela população estudada e quais são as expectativas que famílias sul-americanas de uma área urbana de Pasco têm em relação a esta vacina. Este é um estudo descritivo, transversal, usando uma amostragem aleatória simples de 197 famílias. Os participantes foram selecionados digitalmente através do contato com uma liderança local e uma pesquisa online foi aplicada com o consentimento prévio dos indivíduos. A análise de regressão logística foi realizada no EPIDAT 4.1 com nível de significância de 5%. Acerca do desejo de se vacinar, é válido enfatizar que há falecimentos de familiares devido ao coronavírus e, portanto, é necessário que a equipe assistencial continue com o trabalho preventivo de incentivo à vacinação para obter resultados favoráveis para toda a população. De acordo com os resultados encontrados no presente estudo, a maioria (100%) dos participantes demonstrou ter uma percepção e expectativa favoráveis sobre a vacina contra a Covid-19 ( X c 2=132,83), com valor-p (0,00).
Microphthalmia-anophthalmia-coloboma (MAC) are congenital eye malformations causing a significant percentage of visually impairments in children. Although these anomalies can arise from prenatal ...exposure to teratogens, mutations in well-defined genes originate potentially heritable forms of MAC. Mutations in genes such as CHX10, GDF6, RAX, SOX2 and OTX2, among others, have been recognised in dominant or recessive MAC. SOX2 and OTX2 are the two most commonly mutated genes in monogenic MAC. However, as more numerous samples of MAC subjects would be analysed, a better estimation of the actual involvement of specific MAC-genes could be made. Here, a comprehensive mutational analysis of the CHX10, GDF6, RAX, SOX2 and OTX2 genes was performed in 50 MAC subjects.
PCR amplification and direct automated DNA sequencing of all five genes in 50 unrelated subjects.
Eight mutations (16% prevalence) were recognised, including four GDF6 mutations (one novel), two novel RAX mutations, one novel OTX2 mutation and one SOX2 mutation. Anophthalmia and nanophthalmia, not previously associated with GDF6 mutations, were observed in two subjects carrying defects in this gene, expanding the spectrum of GDF6-linked ocular anomalies.
Our study underscores the importance of genotyping large groups of patients from distinct ethnic origins for improving the estimation of the global involvement of particular MAC-causing genes.
Pantothenate kinase‐associated neurodegeneration (PKAN) is an autosomal recessive disorder characterized by iron accumulation in the brain, because of mutations in the PANK2 gene. Phenotypic and ...genotypic characteristics of 11 patients from five Mexican families with PKAN disease are reported. Sequencing of PANK2 confirmed the diagnosis. The 11 patients had dysarthria associated with dystonia and Parkinsonism in six. Brain magnetic resonance imaging (MRI) showed the ‘eye‐of‐the‐tiger’ sign in all patients. Three different mutations were identified, a novel one (p.A469P) and two (p.G219V and p.N404I) very rare. Homozygous sibs for the p.G219V mutation had a severe disease progression with early death. Dystonia predominated in the p.A469P/p.N404I compound heterozygous patients. Homozygous for p.N404I showed Parkinsonism, tics and personality and speech disorders. Early and late disease onset and variable expression was present in carriers of the different identified mutations. The ‘eye‐of‐the‐tiger’ is an excellent neuroimaging hallmark to predict PANK2 mutations. We detected a ‘cluster’ of patients harboring the p.N404I mutation, strongly suggesting a founder effect for this mutation. This is the first familial clinical‐genetic PKAN disease study accomplished in Mexico.
Inherited retinal diseases (IRDs) represent a spectrum of clinically and genetically heterogeneous disorders. Our study describes an IRD patient carrying
ABCA4
and
USH2A
pathogenic biallelic ...mutations as a result of paternal uniparental disomy (UPD) in chromosome 1. The proband is a 9-year-old girl born from non-consanguineous parents. Both parents were asymptomatic and denied family history of ocular disease. Clinical history and ophthalmologic examination of the proband were consistent with Stargardt disease. Whispered voice testing disclosed moderate hearing loss. Next-generation sequencing and Sanger sequencing identified pathogenic variants in
ABCA4
(c.4926C>G and c.5044_5058del) and
USH2A
(c.2276G>T). All variants were present homozygously in DNA from the proband and heterozygously in DNA from the father. No variants were found in maternal DNA. Further analysis of single nucleotide polymorphisms confirmed paternal UPD of chromosome 1. This is the first known patient with confirmed UPD for two recessively mutated IRD genes. Our study expands on the genetic heterogeneity of IRDs and highlights the importance of UPD as a mechanism of autosomal recessive disease in non-consanguineous parents. Moreover, a long-term follow-up is essential for the identification of retinal features that may develop as a result of
USH2A
-related conditions.
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