Sleep, Glial Function, and the Endocannabinoid System: Implications for Neuroinflammation and Sleep Disorders.

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.

Culturally-tailored survivorship care planning for rural Latina breast cancer patients: a pilot study.

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.

Interplay between the Glymphatic System and the Endocannabinoid System: Implications for Brain Health and Disease.

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.

Expression of miR-148b-3p is correlated with overexpression of biomarkers in prostate cancer.

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.

Familial 3-Way Balanced Translocation Causes 1q43→qter Loss and 10q25.2→qter Gain in a Severely Affected Male Toddler.

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.

Development, implementation, and initial results of the UC San Diego Health Moores Cancer Center Wellbeing Screening Tool.

OBJECTIVE: All accredited cancer institutions are required to screen patients for psychosocial distress. This paper describes the development, implementation, and preliminary outcomes of the University of California San Diego Health Moores Cancer Center Wellbeing Screening Program. METHOD: Essential steps learned in a formal National Cancer Institute-funded training workshop entitled "Implementing Comprehensive Biopsychosocial Screening" were followed to ensure successful program implementation. These steps included identification of stakeholders; formation of a working committee; establishment of a vision, process, and implementation timeline; creation of a screening tool; development of patient educational material; tool integration into an electronic medical record system; staff training and pilot testing of tool administration; and education about tool results and appropriate follow-up actions. Screening data were collected and analyzed retrospectively for preliminary results and rapid cycle improvement of the wellbeing screening process. RESULTS: Over an 8-month implementation and assessment period, the screening tool was administered 5,610 times of 7,664 expected administrations (73.2%.) to 2,394 unique patients. Visits in which the questionnaire was administered averaged 39.6 ± 14.8 minutes, compared with 40.3 ± 15.2 minutes for visits in which the questionnaire was not administered (t = -1.76, df = 7,662, p = 0.079). SIGNIFICANCE OF RESULTS: This program provides a process and a tool for successful implementation of distress screening in cancer centers, in a meaningful way for patients and providers, while meeting accreditation standards. Further, meaningful data about patient distress and tool performance were able to be collected and utilized.

Depression is Associated with Increased Risk for Metabolic Syndrome in Latinos with Type 2 Diabetes.

OBJECTIVE: Latino adults are 66% more likely to have diabetes relative to non-Latino white adults. Prior research identifies depression as a significant risk factor for metabolic syndrome (MetS), but research examining this among Latinos is lacking. This study sought to examine the links between depression and MetS and clinically significant elevations in cardiovascular disease risk markers of MetS in a sample of community-dwelling older Latinos with type 2 diabetes. METHODS: Participants were 332 community-dwelling older (≥60 years) Latinos with type 2 diabetes who completed the nine-item Patient Health Questionnaire and received a health checkup assessing body mass index (BMI), triglyceride and high-density lipoprotein (HDL) cholesterol levels, and blood pressure. Logistic regression analysis compared MetS rates of those meeting criteria for depression with those who did not. Secondary analyses examined the associations between depression and individual MetS components. All analyses controlled for demographic (e.g., income, age) and other potential MetS risk factors (e.g., smoking status, physical activity, alcohol level consumption). RESULTS: Depression was significantly associated with an increased risk of MetS (OR: 5.79; 95% CI: 1.32-25.42) and clinically significant elevations in triglycerides (OR: 2.71; 95% CI: 1.15-6.42) and reduced (HDL) cholesterol (OR: 2.46; 95% CI: 1.11-5.45). A significant association was not observed between depression and either BMI or hypertension. CONCLUSION: Depression is significantly linked to MetS, and most notably dyslipidemia, in older Latinos with diabetes. Causation, however, cannot be inferred from these analyses given the cross-sectional nature of the study. Future research should prospectively examine the directionality of this effect.

Implementation-effectiveness trial of an ecological intervention for physical activity in ethnically diverse low income senior centers.

BACKGROUND: As the US population ages, there is an increasing need for evidence based, peer-led physical activity programs, particularly in ethnically diverse, low income senior centers where access is limited. METHODS/DESIGN: The Peer Empowerment Program 4 Physical Activity' (PEP4PA) is a hybrid Type II implementation-effectiveness trial that is a peer-led physical activity (PA) intervention based on the ecological model of behavior change. The initial phase is a cluster randomized control trial randomized to either a peer-led PA intervention or usual center programming. After 18 months, the intervention sites are further randomized to continued support or no support for another 6 months. This study will be conducted at twelve senior centers in San Diego County in low income, diverse communities. In the intervention sites, 24 peer health coaches and 408 adults, aged 50 years and older, are invited to participate. Peer health coaches receive training and support and utilize a tablet computer for delivery and tracking. There are several levels of intervention. Individual components include pedometers, step goals, counseling, and feedback charts. Interpersonal components include group walks, group sharing and health tips, and monthly celebrations. Community components include review of PA resources, walkability audit, sustainability plan, and streetscape improvements. The primary outcome of interest is intensity and location of PA minutes per day, measured every 6 months by wrist and hip accelerometers and GPS devices. Secondary outcomes include blood pressure, physical, cognitive, and emotional functioning. Implementation measures include appropriateness & acceptability (perceived and actual fit), adoption & penetration (reach), fidelity (quantity & quality of intervention delivered), acceptability (satisfaction), costs, and sustainability. DISCUSSION: Using a peer led implementation strategy to deliver a multi-level community based PA program can enhance program adoption, implementation, and sustainment. TRIAL REGISTRATION: ClinicalTrials.gov, USA ( NCT02405325 ). Date of registration, March 20, 2015. This website also contains all items from the World Health Organization Trial Registration Data Set.

Telepsychiatry for Neurocognitive Testing in Older Rural Latino Adults.

As the population of older Latinos in the U.S. increases, availability of culturally adapted geriatric psychiatry services is becoming a growing concern. This issue is exacerbated for rural Latino populations. In this study, we assessed whether neurocognitive assessment via telepsychiatry (TP) using a Spanish-language battery would be comparable to in-person (IP) testing using the same battery in a sample of Spanish-speaking older adults in a rural setting. Patients (N = 22) received IP and TP testing 2 weeks apart. The order of IP and TP test administrations in individual subjects was determined randomly. Comparison of scores indicated that there were no significant differences between IP and TP test performance though both groups scored non-significantly higher at the second visit. This study demonstrates feasibility and utility of neurocognitive testing in Spanish using TP among older rural Latinos.

Chromosomal instability in a patient with ring chromosome 14 syndrome: a case report.

BACKGROUND: Ring chromosome 14 syndrome is a rare disorder primarily marked by early-onset epilepsy, microcephaly, distinctive craniofacial features, hypotonia, intellectual disability, and delay in both development and language acquisition. CASE PRESENTATION: A 21-year-old woman with a history of epileptic seizures since the age of 1.5 years presented with distinctive craniofacial features, including a prominent and narrow forehead, sparse and short eyebrows, palpebral ptosis, horizontal palpebral fissures, a broad nasal bridge, a prominent nasal tip, a flat philtrum, hypertelorism, midfacial hypoplasia, horizontal labial fissures, a thin upper lip, crowded teeth, an ogival palate, retrognathia, and a wide neck. Additional physical abnormalities included kyphosis, lumbar scoliosis, pectus carinatum, cubitus valgus, thenar and hypothenar hypoplasia, bilateral hallux valgus, shortening of the Achilles tendon on the left foot, and hypoplasia of the labia minora. Chromosomal analysis identified a ring 14 chromosome with breakpoints in p11 and q32.33. An aCGH study revealed a ~ 1.7 Mb deletion on chromosome 14qter, encompassing 23 genes. Genomic instability was evidenced by the presence of micronuclei and aneuploidies involving the ring and other chromosomes. CONCLUSION: The clinical features of our patient closely resembled those observed in other individuals with ring chromosome 14 syndrome. The most important point was that we were able to verify an instability of the r(14) chromosome, mainly involving anaphasic lags and its exclusion from the nucleus in the form of a micronucleus.

Association between lipid profile and clinical outcomes in COVID-19 patients.

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.

Using the repeatable battery for the assessment of neuropsychological status (RBANS) effort index to predict treatment group attendance in patients with schizophrenia.

In a psychosocial treatment study, knowing which participants are likely to put forth adequate effort to maximize their treatment, such as attending group sessions and completing homework assignments, and knowing which participants need additional motivation before engagement in treatment is a crucial component to treatment success. This study examined the ability of the Repeatable Battery for Assessment of Neuropsychological Status (RBANS) Effort Index (EI), a newly developed measure of suboptimal effort that is embedded within the RBANS, to predict group attendance in a sample of 128 middle-aged and older adults with schizophrenia. This study was the first to evaluate the EI with a schizophrenia sample. While the EI literature recommends a cutoff score of >3 to be considered indicative of poor effort, a cutoff of >4 was identified as the optimal cutoff for this sample. Receiver Operating Characteristics curve analyses were conducted to determine if the EI could predict participants who had high versus low attendance. Results indicated that the EI was successfully able to discriminate between group attendance, and this measure of effort appears to be most valuable as a tool to identify participants who will have high attendance. Of interest, overall cognitive functioning and symptoms of psychopathology were not predictive of group attendance.

Stigmatizing attitudes toward mental illness among racial/ethnic older adults in primary care.

OBJECTIVE: The current study applies the perceived stigma framework to identify differences in attitudes toward mental health and mental health treatment among various racial/ethnic minority older adults with common mental health problems including depression, anxiety disorders, or at-risk alcohol use. Specifically, this study examines to what extent race/ethnicity is associated with differences in (1) perceived stigma of mental illness and (2) perceived stigma for different mental health treatment options. METHODS: Analyses were conducted using baseline data collected from participants who completed the SAMHSA Mental Health and Alcohol Abuse Stigma Assessment, developed for the PRISM-E (Primary Care Research in Substance Abuse and Mental Health for the Elderly) study, a multisite randomized trial for older adults (65+ years) with depression, anxiety, or at-risk alcohol consumption. The final sample consisted of 1247 non-Latino Whites, 536 African-Americans, 112 Asian-Americans, and 303 Latinos. RESULTS: African-Americans and Latinos expressed greater comfort in speaking to primary care physicians or mental health professionals concerning mental illness compared with non-Latino Whites. Asian-Americans and Latinos expressed greater shame and embarrassment about having a mental illness than non-Latino Whites. Asian-Americans expressed greater difficulty in seeking or engaging in mental health treatment. CONCLUSIONS: Racial/ethnic differences exist among older adults with mental illness with respect to stigmatizing attitudes toward mental illness and mental health treatment. Results of this study could help researchers and clinicians educate racial/ethnic minority older adults about mental illness and engage them in much needed mental health services.

Vitamin D deficiency in adolescents: is there a difference according to the degree of obesity? / Déficit de vitamina D en adolescentes: ¿existe diferencia según el grado de obesidad?

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.

Clinical Predictors of Monkeypox Diagnosis: A Case-Control Study in a Nonendemic Region during the 2022 Outbreak.

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.

Scientific facts improve cannabis perception and public opinion: results from Sinaloa, México.

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.

Cultural beliefs and mental health treatment preferences of ethnically diverse older adult consumers in primary care.

BACKGROUND: Beliefs concerning the causes of mental illness may help to explain why there are significant disparities in the rates of formal mental health service use among racial/ethnic minority elderly as compared with their white counterparts. This study applies the cultural influences on mental health framework to identify the relationship between race/ethnicity and differences in 1) beliefs on the cause of mental illness, 2) preferences for type of treatment, and 3) provider characteristics. METHOD: Analyses were conducted using baseline data collected from participants who completed the cultural attitudes toward healthcare and mental illness questionnaire, developed for the Primary Care Research in Substance Abuse and Mental Health for the Elderly study, a multisite randomized trial for older adults (65+) with depression, anxiety, or at-risk alcohol consumption. The final sample consisted of 1,257 non-Latino whites, 536 African Americans, 112 Asian Americans, and 303 Latinos. RESULTS: African Americans, Asian Americans, and Latinos had differing beliefs regarding the causes of mental illness when compared with non-Latino whites. Race/ethnicity was also associated with determining who makes healthcare decisions, treatment preferences, and preferred characteristics of healthcare providers. CONCLUSIONS: This study highlights the association between race/ethnicity and health beliefs, treatment preferences, healthcare decisions, and consumers' preferred characteristics of healthcare providers. Accommodating the values and preferences of individuals can be helpful in engaging racial/ethnic minority patients in mental health services.

Altered Expression of Survivin Variants S-2B and S-WT in Breast Cancer Is Related to Adipokine Expression.

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.

Incidence, Mortality, and Trends of Prostate Cancer in Mexico from 2000 to 2019: Results from the Global Burden of Disease Study 2019.

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.

Novel TINF2 gene mutation in dyskeratosis congenita with extremely short telomeres: A case report.

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.