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2.
Sci Rep ; 14(1): 12139, 2024 05 27.
Artigo em Inglês | MEDLINE | ID: mdl-38802549

RESUMO

High-density lipoprotein cholesterol (HDL-c) removes cholesterol, an essential component in lipid rafts, and this cholesterol removal can regulate protein attachment to lipid rafts, modulating their functionality in the immune cell response. Although severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection can alter the lipid profile, there is little information on the role of HDL-c and other lipids in prognostic of the coronavirus disease 2019 (COVID-19) in Mexican population. This study aims to evaluate the predictive value of HDL-c and lipid profile on severity and survival of 102 patients infected with SARS-CoV-2 during the COVID-19 first wave. Our findings, derived from univariate and multivariate Cox proportional hazards regression models, highlighted age and hypertension as significant predictors of survival (HR = 1.04, p = 0.012; HR = 2.78, p = 0.027), while gender, diabetes, and obesity showed no significant impact. Triglycerides and HDL-c levels notably influenced mortality, with elevated triglycerides and lower HDL-c associated with higher mortality risk (p = 0.032). This study underscores the importance of lipid profiles alongside traditional risk factors in assessing COVID-19 risk and outcomes. It contributes to the understanding of COVID-19 patient management and emphasizes the need for further investigation into the role of dyslipidemia in influencing COVID-19 prognosis, potentially aiding in refined risk stratification and therapeutic strategies.


Assuntos
COVID-19 , HDL-Colesterol , SARS-CoV-2 , Humanos , COVID-19/mortalidade , COVID-19/sangue , Masculino , Feminino , Pessoa de Meia-Idade , HDL-Colesterol/sangue , Adulto , Idoso , SARS-CoV-2/isolamento & purificação , Fatores de Risco , Triglicerídeos/sangue , Prognóstico , Lipídeos/sangue , México/epidemiologia , Dislipidemias/sangue , Modelos de Riscos Proporcionais , Hipertensão/sangue
3.
Int J Mol Sci ; 25(6)2024 Mar 09.
Artigo em Inglês | MEDLINE | ID: mdl-38542134

RESUMO

The relationship between sleep, glial cells, and the endocannabinoid system represents a multifaceted regulatory network with profound implications for neuroinflammation and cognitive function. The molecular underpinnings of sleep modulation by the endocannabinoid system and its influence on glial cell activity are discussed, shedding light on the reciprocal relationships that govern these processes. Emphasis is placed on understanding the role of glial cells in mediating neuroinflammatory responses and their modulation by sleep patterns. Additionally, this review examines how the endocannabinoid system interfaces with glia-immune signaling to regulate inflammatory cascades within the central nervous system. Notably, the cognitive consequences of disrupted sleep, neuroinflammation, and glial dysfunction are addressed, encompassing implications for neurodegenerative disorders, mood disturbances, and cognitive decline. Insights into the bidirectional modulation of cognitive function by the endocannabinoid system in the context of sleep and glial activity are explored, providing a comprehensive perspective on the potential mechanisms underlying cognitive impairments associated with sleep disturbances. Furthermore, this review examines potential therapeutic avenues targeting the endocannabinoid system to mitigate neuroinflammation, restore glial homeostasis, and normalize sleep patterns. The identification of novel therapeutic targets within this intricate regulatory network holds promise for addressing conditions characterized by disrupted sleep, neuroinflammation, and cognitive dysfunction. This work aims to examine the complexities of neural regulation and identify potential avenues for therapeutic intervention.


Assuntos
Endocanabinoides , Transtornos do Sono-Vigília , Humanos , Doenças Neuroinflamatórias , Sistema Nervoso Central , Sono , Neuroglia
4.
Int J Mol Sci ; 24(24)2023 Dec 14.
Artigo em Inglês | MEDLINE | ID: mdl-38139290

RESUMO

The intricate mechanisms governing brain health and function have long been subjects of extensive investigation. Recent research has shed light on two pivotal systems, the glymphatic system and the endocannabinoid system, and their profound role within the central nervous system. The glymphatic system is a recently discovered waste clearance system within the brain that facilitates the efficient removal of toxic waste products and metabolites from the central nervous system. It relies on the unique properties of the brain's extracellular space and is primarily driven by cerebrospinal fluid and glial cells. Conversely, the endocannabinoid system, a multifaceted signaling network, is intricately involved in diverse physiological processes and has been associated with modulating synaptic plasticity, nociception, affective states, appetite regulation, and immune responses. This scientific review delves into the intricate interconnections between these two systems, exploring their combined influence on brain health and disease. By elucidating the synergistic effects of glymphatic function and endocannabinoid signaling, this review aims to deepen our understanding of their implications for neurological disorders, immune responses, and cognitive well-being.


Assuntos
Sistema Glinfático , Doenças do Sistema Nervoso , Humanos , Sistema Glinfático/metabolismo , Endocanabinoides/metabolismo , Encéfalo/metabolismo , Sistema Nervoso Central , Doenças do Sistema Nervoso/metabolismo
5.
Andes Pediatr ; 94(3): 339-349, 2023 Jun.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-37909937

RESUMO

OBJECTIVE: To analyze the frequency of vitamin D (VD) deficiency in adolescents with different degrees of obesity and its association with alterations in the metabolic profile. PATIENTS AND METHOD: Cross-sectional, descriptive, and analytical study in 250 adolescents with different degrees of obesity, treated at the nutrition polyclinic of the Hospital Dr. Sotero del Río. Data on age, sex, weight, height, Tanner stage, 25-hydroxyvitamin D levels, total cholesterol, HDL cholesterol, LDL cholesterol, triglycerides, basal insulin, and glycemia were collected. The following were used for statistical analysis: Student's test, chi-square, multiple linear regression analysis, and Pearson's correlation coefficient. RESULTS: 58% of the adolescents presented non-severe obesity and 42% severe obesity, the mean age was 12.4 ± 2.1 years, and 54% were male. 91% of the total sample presented VD deficiency, being more frequent among adolescents with severe obesity, reaching 95%. VD levels were significantly lower in winter. HOMA (homeostatic model assessment) values were higher among patients with severe obesity (6.3/4.2). Low HDL-c was more frequent in adolescents with severe obesity (78%/62%). An inverse correlation was found between VD and triglyceride levels (r = -0.20; p = 0.00) and total cholesterol (r = -0.15; p = 0.03). CONCLUSION: The VD deficiency among obese adolescents is worrying, reaching more than 90% of the study sample. Our results highlight the importance of timely prevention, detection, and treatment of VD deficiency in obese adolescents to prevent bone health deterioration and cardiometabolic risk in adulthood.


Assuntos
Obesidade Mórbida , Deficiência de Vitamina D , Humanos , Adolescente , Masculino , Criança , Feminino , Estudos Transversais , Obesidade/complicações , Obesidade/epidemiologia , Deficiência de Vitamina D/diagnóstico , Deficiência de Vitamina D/epidemiologia , HDL-Colesterol
6.
Sci Rep ; 13(1): 17318, 2023 10 12.
Artigo em Inglês | MEDLINE | ID: mdl-37828116

RESUMO

Cannabis, the most prevalent drug in Latin America, has long been associated with the state of Sinaloa, Mexico, known for its cultivation and distribution. Despite increasing global acceptance, cannabis use remains stigmatized in Mexican society, driven by perceptions of it as a highly psychoactive and addictive substance lacking medicinal or industrial value. This study investigates the impact of scientific information on societal perceptions of cannabis in Sinaloa. A large convenience sample of 3162 individuals from Sinaloa participated in this research, responding to a questionnaire on cannabis consumption and attitudes. Participants were then subjected to an intervention consisting of an informative briefing based on the documents "Using Evidence to Talk About Cannabis" and "State of the Evidence: cannabis use and regulation" by the International Centre for Science in Drug Policy. After the intervention, participants' attitudes were immediately reevaluated through the same questionnaire, allowing for a comparison of pre- and post-intervention responses. The results indicate that the intervention (providing scientific information) significantly influenced attitudes toward cannabis, with education and age playing prominent roles in its effectiveness. Notably, the intervention fostered more positive or more neutral attitudes, potentially reducing stigma and promoting a better-informed perspective on cannabis. This study highlights the pivotal role of evidence in shaping informed citizens' views, while underscoring the importance of countering misinformation for societal progress. These findings have significant implications for forthcoming cannabis policy modifications in Mexico, emphasizing the necessity of engaging knowledgeable individuals in policy decisions to address the violence and inequalities associated with the illicit drug trade, particularly in Sinaloa.


Assuntos
Cannabis , Alucinógenos , Humanos , Opinião Pública , México , Atitude , Agonistas de Receptores de Canabinoides , Percepção
7.
Microorganisms ; 11(9)2023 Sep 11.
Artigo em Inglês | MEDLINE | ID: mdl-37764131

RESUMO

Monkeypox (Mpox) is an emerging zoonotic disease with the potential for severe complications. Early identification and diagnosis are essential to prompt treatment, control its spread, and reduce the risk of human-to-human transmission. This study aimed to develop a clinical diagnostic tool and describe the clinical and sociodemographic features of 19 PCR-confirmed Mpox cases during an outbreak in a nonendemic region of northwestern Mexico. The median age of patients was 35 years, and most were male. Mpox-positive patients commonly reported symptoms such as fever, lumbago, and asthenia, in addition to experiencing painful ulcers and a high frequency of HIV infection among people living with HIV (PLWH). Two diagnostic models using logistic regression were devised, with the best model exhibiting a prediction accuracy of 0.92 (95% CI: 0.8-1), a sensitivity of 0.86, and a specificity of 0.93. The high predictive values and accuracy of the top-performing model highlight its potential to significantly improve early Mpox diagnosis and treatment in clinical settings, aiding in the control of future outbreaks.

9.
J Psychosoc Oncol ; 41(4): 475-486, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36357323

RESUMO

OBJECTIVE: To explore the feasibility and acceptability of Proyecto Mariposa, a culturally-tailored survivorship care program for rural Latina breast cancer patients. DESIGN: Single group mixed-method approach. METHODS: Feasibility of recruitment, intervention and evaluation, and perceptions about the intervention were assessed with 18 rural Latina breast cancer patients from the US/Mexico border region. Pre-post assessments evaluated change in patients' knowledge and concerns about survivorship care, and their self-efficacy about patient-physician interaction and managing chronic disease. FINDINGS: Feasibility was generally promising but affected by the COVID-19 outbreak. Participants found the intervention to be acceptable and useful, particularly with regard to information provision and encouraging proactive behavior. There was modest pre-post improvement on self-efficacy for managing disease. CONCLUSIONS: This pilot study suggested feasibility and acceptability of Proyecto Mariposa for rural Latina breast cancer patients. Change in outcomes was small indicating the need for research with a larger sample to establish reliable findings.


Assuntos
Neoplasias da Mama , Feminino , Humanos , Neoplasias da Mama/etnologia , Neoplasias da Mama/terapia , Hispânico ou Latino , Projetos Piloto , Sobrevivência , Estudos de Viabilidade , Assistência à Saúde Culturalmente Competente , Planejamento de Assistência ao Paciente , Aceitação pelo Paciente de Cuidados de Saúde , População Rural , Autoeficácia
10.
World J Clin Cases ; 10(33): 12440-12446, 2022 Nov 26.
Artigo em Inglês | MEDLINE | ID: mdl-36483815

RESUMO

BACKGROUND: Dyskeratosis congenita is a rare disease characterized by bone marrow failure and a clinical triad of oral leukoplakia, nail dystrophy, and abnormal skin pigmentation. The genetics of dyskeratosis congenita include mutations in genes involved in telomere maintenance, including TINF2. CASE SUMMARY: Here, we report a female patient who presented thrombocytopenia, anemia, reticulate hyperpigmentation, dystrophy in fingernails and toenails, and leukoplakia on the tongue. A histopathological study of the skin showed dyskeratocytes; however, a bone marrow biopsy revealed normal cell morphology. The patient was diagnosed with dyskeratosis congenita, but her family history did not reveal significant antecedents. Whole-exome sequencing showed a novel heterozygous punctual mutation in exon 6 from the TINF2 gene, namely, NM_001099274.1:c.854delp.(Val285Alafs*32). An analysis of telomere length showed short telomeres relative to the patient's age. CONCLUSION: The disease in this patient was caused by a germline novel mutation of TINF2 in one of her parents.

11.
Cancers (Basel) ; 14(13)2022 Jun 29.
Artigo em Inglês | MEDLINE | ID: mdl-35804962

RESUMO

In 2019, the Global Burden of Disease (GBD) estimated that prostate cancer (PC) was the 16th most common cause of death globally in males. In Mexico, PC epidemiology has been studied by a number of metrics and over various periods, although without including the most up-to-date estimates. Herein, we describe and compare the burdens and trends of PC in Mexico and its 32 states from 2000 to 2019. For this study, we extracted online available data from the GBD 2019 to estimate the crude and age-standardized rates (ASR per 100,000 people) of the incidence and mortality of PC. In Mexico, PC caused 27.1 thousand (95% uncertainty intervals, 20.6-36.0 thousand) incident cases and 9.2 thousand (7.7-12.7 thousand) deaths in males of all ages in 2019. Among the states, Sinaloa had the greatest ASR of incidence, and Guerrero had the highest mortality. The burden of PC showed an increasing trend, although the magnitude of change differed between metrics and locations. We found both an increasing national trend and subnational variation in the burden of PC. Our results confirm the need for updated and timely estimates to design effective diagnostic and treatment campaigns in locations where the burden of PC is the highest.

12.
J Oncol ; 2022: 7398444, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35342410

RESUMO

Breast cancer (BCa) is one of the leading causes of death in women with these types of malignancies. Early detection is pivotal to improve prognosis and reduce mortality. Several proteins and genes have been proposed as biomarkers for cancer; however, further studies are required before a molecule is accepted as a definitive biomarker. This study was aimed at investigating the expression of survivin variants S-WT, S-2B, and S-ΔEx3, as well as adipokines LEP and ADIPOQ in breast cancer. Breast samples were obtained from patients with (n = 27) and without (n = 20) BCa, and relative gene expression was assessed by RT-qPCR. S-WT and S-2B showed a significant increase in BCa samples (p = 0.005 and p = 0.001, respectively) and in high-aggressiveness BCa (p = 0.026 and p = 0.037, respectively). Despite S-ΔEx3 expression remained globally unchanged, when dividing BCa samples according to the stage, this gene showed a significant tendency to increase towards more advanced stages, and the exact opposite effect was observed for LEP. Furthermore, LEP expression showed a negative correlation with S-2B (p = 0.005) and S-WT (p = 0.011), and in the same manner, ADIPOQ was negatively related with these two survivin variants (p = 0.001 and p = 0.005, respectively). Interestingly, S-ΔEx3 expression appears unaffected by LEP and ADIPOQ expressions. Our results highlight the importance of investigating specific variants of a given gene, as sequence variation may grant different correlation with other important structures and diseases.

13.
Mol Cytogenet ; 14(1): 43, 2021 Sep 04.
Artigo em Inglês | MEDLINE | ID: mdl-34481514

RESUMO

BACKGROUND: 4q deletion syndrome is a rare chromosomal disorder that mostly arises de novo. The syndrome is characterized by craniofacial dysmorphism, digital abnormalities, skeletal alterations, heart malformations, developmental delay, growth retardation, Pierre Robin sequence, autistic spectrum and attention deficit-hyperactivity disorder, although not every patient shows the same features. Array comparative genomic hybridization (aCGH) use improves the detection of tiny chromosomal deletions and allows for a better understanding of genotype-phenotype correlations in affected patients. We report the case of a 6-year-old female patient showing mild dysmorphic features, mild mental disabilities and a coagulation disorder as a consequence of a de novo del(4)(q34.1) characterized by aCGH. CASE PRESENTATION: A 6-year-old female patient exhibited special craniofacial features, such as backward-rotated ears, upslanted palpebral fissures, broad nasal bridges, anteverted nares, broad nasal alae, smooth philtrums, smooth nasolabial folds, thin lips, horizontal labial commissures, and retrognathia. In the oral cavity, maxillary deformation, a high arched palate, agenesis of both mandibular canines and fusion of two mandibular incisors were observed. She also displayed bilateral implantation of the proximal thumbs, widely spaced nipples, dorsal kyphosis, hyperlordosis, and clitoral hypertrophy. In addition, the patient presented with coagulopathy, psychomotor delay, attention deficit-hyperactivity disorder, and mild mental disability. A chromosomal study showed the karyotype 46,XX,del(4)(q34.1), while an aCGH analysis revealed an 18.9 Mb deletion of a chromosome 4q subtelomeric region spanning 93 known genes. CONCLUSION: The clinical manifestations of this patient were similar to those reported in other individuals with 4q deletion syndrome. Although most of the patients with a 4q34 terminal deletion share similarities, variations in phenotype are also common. In general, clinical effects of chromosomal deletion syndromes depend on the length of the deleted chromosomal segment and, consequently, on the number of lost genes; however, in all of these syndromes, there is no simple correlation between the phenotype and the chromosomal region involved, particularly in cases of 4q deletion.

14.
Artigo em Inglês | MEDLINE | ID: mdl-34209191

RESUMO

Rural US Latina breast cancer patients experience language barriers, health literacy issues, and limited access to health care resources that negatively impact survivorship care. This study explored the challenges to survivorship care for rural Latina breast cancer (BC) patients and approaches to supporting survivorship care plans (SCP) from the stakeholders' perspectives. Data were collected via eight focus groups (n = 40) and individual interviews (n = 4) with Latina BC patients, family caregivers, and health care professionals in a rural US-Mexico Border region. Interviews were audio-taped, transcribed, translated, and analyzed using thematic analysis. Themes related to the patient's SCP challenges included: (1) lack of knowledge of treatment information, (2) lack of proactive health behavior, (3) gaps in information for care coordination, (4) psychological distress, and (5) difficulty retaining health information. Respondents expressed that the SCP document could fill patient information gaps as well as support patient communication with their clinicians and family. Rural BC patients demonstrated an acute need for information and active engagement in their survivorship care. The findings indicate the importance of addressing challenges for survivorship care on multiple dimensions: Cognitive, behavioral, social, and structural. Developing a culturally tailored SCP intervention will be imperative to support survivorship care.


Assuntos
Neoplasias da Mama , Sobrevivência , Neoplasias da Mama/terapia , Feminino , Hispânico ou Latino , Humanos , México , Planejamento de Assistência ao Paciente
15.
Innov Aging ; 4(5): igaa033, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32964142

RESUMO

The aggregation of Latino subgroups in national studies creates an overly simplistic narrative that Latinos are at lower risk of mental illness and that foreign nativity seems protective against mental illness (i.e., immigrant paradox). This broad generalization does not hold up as the Latino population ages. Given that social inequalities for risk appear to widen with age, the social disadvantages of being Latino in the United States increase the risk for mental illness across the life span. This review focuses on the mental health of older Latinos, specifically the 3 subgroups with the longest residential history in the United States-Mexicans, Puerto Ricans, and Cubans. We examine relevant epidemiological and clinical psychopathology studies on aging in these Latino populations and present evidence of the heterogeneity of the older Latino population living in the United States, thus illustrating a limitation in this field-combining Latino subgroups despite their diversity because of small sample sizes. We address the migration experience-how intraethnic differences and age of migration affect mental health-and discuss social support and discrimination as key risk and protective factors. We conclude with a discussion on meeting the mental health needs of older Latinos with a focus on prevention, a promising approach to addressing mental illness in older Latinos, and future directions for mental health research in this population. Success in this endeavor would yield a substantial reduction in the burden of late-life depression and anxiety and a positive public health impact.

16.
Artigo em Inglês | MEDLINE | ID: mdl-32785081

RESUMO

Latina breast cancer survivors are less likely to receive a comprehensive Survivorship Care Plan (SCP) than non-Latina Whites. Evidence-based and theory driven interventions are needed to promote a culturally and linguistically responsive SCP. This paper describes the application of Intervention Mapping (IM) in the development of Proyecto Mariposa, a comprehensive SCP program targeting Latina breast cancer survivors living in a rural U.S.-Mexico border region. We conducted a needs assessment using focus groups (n = 40) and individual interviews (n = 4) with stakeholders to elicit their needs and preferences relating to SCPs and SCP aid (Step1). Content analysis of transcripts was conducted using Atlas.ti. The findings informed the development of a matrix of change objectives where we selected specific behavioral theories to ground the practical application of the SCP program (Step 2). We identified behavioral theories and the practical application of behavioral change (Step 3) and designed and developed a comprehensive SCP program which consisted of a culturally-and linguistically-adapted SCP document and animated video as an SCP aid (Step 4). The systematic application of the IM framework resulted in the development of a comprehensive and culturally tailored SCP intervention. Stakeholder active involvement in the cultural tailoring of the program was imperative and strengthens the SCP intervention.


Assuntos
Neoplasias da Mama , Neoplasias , Planejamento de Assistência ao Paciente , Sobrevivência , Neoplasias da Mama/terapia , Características Culturais , Feminino , Hispânico ou Latino , Humanos , Idioma , México
17.
J Genet ; 992020.
Artigo em Inglês | MEDLINE | ID: mdl-32661204

RESUMO

In male, the prostate cancer (PCa) is one of the most frequent neoplasias and the second cause of cancer deaths worldwide. In 2015, more than 6000 men died in Mexico due to this disease. In this regard, prostate cancer associated gene 3 (PCA3) has become an interesting target in PCa as is found highly overexpressed. Moreover, TAAA tandem repeats have been suggested to be associated with the regulation of PCA3 expression and, in turn, to be related with the development of the disease. The aim of the study was to understand thegenetic basis of the disease in search for a better diagnosis. Expression levels of PCA3 gene were analysed in tissue of 13 patients diagnosed with PCa and six patients diagnosed with a benign prostatic disease (BPD). The absolute expression of PCA3 was quantified by real-time PCR. Genotype for TAAA tandem repeats was measured using automatic sequencing and the results were analysed to determine whether an association existed between them. We identified three alleles: 4, 5, 6 and four genotypes: 4/5, 5/5, 5/6, 6/6. Our analysis identified amutation in the nucleotide 76764237 of the PCA3 gene that generates an extra TAAA tandem repeat. The nucleotide mutation is present in 61.53% of PCa and 66.66% of BPD patients. Our study revealed the presence of a mutation in the PCA3 gene that generates an extra TAAA tandem. We observed no association between the absolute expression of PCA3 messenger and the number of TAAA repetitions.


Assuntos
Antígenos de Neoplasias/genética , Biomarcadores Tumorais/genética , Polimorfismo Genético , Regiões Promotoras Genéticas , Hiperplasia Prostática/patologia , Neoplasias da Próstata/patologia , Idoso , Seguimentos , Genótipo , Humanos , Masculino , Prognóstico , Hiperplasia Prostática/genética , Neoplasias da Próstata/genética
18.
Mol Cytogenet ; 13: 17, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32467733

RESUMO

BACKGROUND: Concomitant trisomy 2q3 and monosomy 4q3 have been rarely reported. Pure trisomy 2q3 has been associated with microcephaly, hypertelorism, low-set ears, micrognathia, visceral abnormalities, and growth retardation. Monosomy 4q3 includes a wide variety of dysmorphic features such an abnormal skull shape, hypertelorism, Pierre Robin sequence, short nose with abnormal bridge, fifth finger clinodactyly, congenital heart, and genitourinary defects, in addition to intellectual disability, developmental delay, and hypotonia, but more distal deletions involving 4q34-qter may result in milder phenotypes. Here, we present a child with a mild dysmorphic syndrome, resulted of a duplication 2q34-qter and a deletion 4q35.2-qter inherited of his father. CASE PRESENTATION: We report a child, who at birth presented hypotonia, dysmorphism, and bilateral cryptorchidism. At 2 years and 9 month of age he showed brachycephaly, narrow forehead, bilateral frontoparietal hypertrichosis, down slanting palpebral fissures, sparse eyebrows, sparse short eyelashes, hypertelorism, depressed nasal root, broad nasal bridge, bulbous nasal tip, prominent colummela, broad nasal ala, smooth filtrum, high arched palate, thin upper lips, and ears rotated backwards. He also showed telethelia, hypertrichosis from dorsal to the sacral region, hands with clinodactyly and hypoplasia of the terminal phalanx of the fifth finger, and broad thumbs, broad first toes, and right cryptorchidism. A chromosomal study revealed a karyotype 46,XY,der(4)t(2;4)(q34;q35.2), while an array comparative genomic hybridization showed a 31.12 Mb duplication of the chromosome 2q34-q37.3 and a 1.49 Mb deletion in the chromosome 4q35.2. CONCLUSIONS: To our knowledge, only four families with translocation t(2;4) have been reported, two of them involving t(2q;4q), but the breakpoints involved in our patient have not been previously observed. The genomic imbalance in this patient was a duplication of 318 genes of the region 2q34-q37.3 and a deletion of 7 genes of 4q35.2. We discuss difficulty to assign specific congenital abnormalities to these duplicated/deleted regions and include some cases with terminal deletions of 4q with normal or just mildly detectable phenotypic effects.

19.
Genet Mol Biol ; 43(1): e20180330, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32154827

RESUMO

Prostate cancer (PCa) is one of the leading causes of death among men. Genes such as PCA3, PSA, and Fra-1 are suggested to serve as potential tools for the detection of PCa, as they are deregulated during this pathology. A similar event occurs with small non-coding RNAs, called miRNAs, specifically miR-195-5p, miR-133a-3p, and miR-148b-3p, which were analyzed in a Chinese population and suggested to be possible candidates for PCa diagnosis. We evaluated the expression levels of three miRNAs and three genes in tissue samples of PCa and benign prostate disease, such as benign prostatic hyperplasia, or prostatitis, in order to determine their potential as candidates for PCa detection. Our results showed a statistically significant overexpression of 279-fold increase in PSA levels and a 1,012-fold increase in PCA3 levels in PCa patients compared to benign prostate disease patients (p = 0.001 and p = 0.002, respectively). We observed a positive correlation between the expression of miR-148b-3p and the expression of PSA and PCA3 genes, two established biomarkers in PCa. The expression of miR-148b-3p was not related to clinical characteristics, such as age and weight, as observed for the other miRNAs analyzed, suggesting its potential as a biomarker for detection of this pathology.

20.
Cytogenet Genome Res ; 157(4): 231-238, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30933949

RESUMO

Constitutional complex chromosomal rearrangements (CCRs) are rare events that typically involve 2 or more chromosomes with at least 3 breakpoints and can result in normal or abnormal phenotypes depending on whether they disturb the euchromatic neighborhood. Here, we report an unusual balanced CCR involving chromosomes 1, 9, and 10 that causes an unbalanced karyotype in a severely affected toddler. The CCR was initially reported as a maternal 2-way translocation but was reclassified as a 3-way translocation after a microarray analysis of the propositus revealed the involvement of another chromosome not identified by G-banding in his phenotypically normal mother. FISH assays on maternal metaphase cells confirmed that the 1qter region of der(1) was translocated to der(10), whereas the 10qter segment was translocated to der(9), which in turn donated a segment to der(1). Subsequently, this CCR was also identified in her phenotypically normal father (the patient's grandfather). Thus, the patient inherited the previously unreported pathogenic combination of der(1) with a loss of 1q43→qter (including AKT3, ZBTB18, HNRNPU, and SMYD3) and der(9) with a gain of 10q25.2→qter (including FGFR2), leading to a compound phenotype with key features of the 1q43→qter deletion and distal 10q trisomy syndromes. Our observations suggest that the loss of SMYD3 accounts for cardiac defects in a subset of patients. Moreover, due to recurrent miscarriages in this family, our findings allowed improved genetic counseling.


Assuntos
Anormalidades Múltiplas/genética , Cromossomos Humanos Par 10/genética , Cromossomos Humanos Par 1/genética , Cromossomos Humanos Par 9/genética , Anormalidades Múltiplas/diagnóstico por imagem , Pré-Escolar , Hibridização Genômica Comparativa , Aconselhamento Genético , Histona-Lisina N-Metiltransferase/genética , Humanos , Hibridização in Situ Fluorescente/métodos , Masculino , Tomografia Computadorizada por Raios X , Translocação Genética
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