Hypokalemic Periodic Paralysis Type 2 Due to SCN4A Val1105Met Mutation: A Case Study.

Hypokalemic Periodic Paralysis Type 2 (HOKPP2) is a rare autosomal dominant disorder characterized by recurrent episodes of muscle weakness, paralysis, and hypokalemia. In this case report, we present the clinical details of a 49-year-old female diagnosed with HOKPP2. Genetic testing revealed a heterozygous mutation in the Sodium Voltage-Gated Channel Alpha Subunit 4 (SCN4A) gene, confirming the diagnosis of HOKPP2. Management strategies, including potassium supplementation and lifestyle modifications, were implemented, resulting in a significant decrease in the frequency of symptomatic episodes. This case highlights the importance of considering HOKPP2 in patients with recurrent muscle weakness, particularly those with a familial history of similar symptoms. Furthermore, it underscores the crucial role of genetic testing in guiding patient management and facilitating genetic counseling.

Central and peripheral blood pressures in relation to the triglyceride-glucose index in a Chinese population.

BACKGROUND: The triglyceride-glucose (TyG) index has been proposed as a surrogate marker of insulin resistance. However, the relationship between the TyG index and central blood pressure (BP), has not been well studied in adults. METHODS: A total of 715 Chinese adult participants were enrolled in this study. Anthropometric and BP were assessed. The TyG index was calculated as ln[fasting triglycerides(mg/dL) × fasting glucose(mg/dL)/2]. Central BP was measured using SphygmoCor system. RESULTS: The participants were stratified into three groups based on the TyG index, and significant differences were observed in metabolic and cardiovascular parameters and the prevalence of hypertension among the groups. Both brachial (ß = 1.38, P = 0.0310; group highest vs. lowest, ß = 2.66, P = 0.0084) and aortic (ß = 2.38, P = 0.0002; group highest vs. lowest, ß = 3.96, P = 0.0001) diastolic BP were significantly and independently associated with the TyG index and increasing TyG index tertile. However, there was no independent association between the TyG index and systolic BP. A one-unit increase in the TyG index was associated with a 46% higher risk of hypertension (P = 0.0121), and compared with the lowest group, participants in the highest group had a 95% higher risk of hypertension (P = 0.0057). CONCLUSIONS: Our study demonstrates a significant and independent association between the TyG index and both brachial and aortic diastolic BP in Chinese adults. Furthermore, the TyG index was found to be an independent predictor of hypertension.

Management and Anticoagulation Treatment of Non-Valvular Atrial Fibrillation in Elderly Patients: The Dali Study.

Background: Non-valvular atrial fibrillation (NVAF) is associated with increased stroke in elderly populations, yet anticoagulant therapy is underutilized. We analyzed clinical characteristics and anticoagulation treatment rates of elderly NVAF patients hospitalized in Dali, China, to identify potential contributing factors. Methods: We collected data for 155 elderly patients with NVAF aged ≥60 years, from July 01, 2020, to December 31, 2021. We analyzed the awareness rate, clinical characteristics, and anticoagulant treatment rate of atrial fibrillation (AF), and identified factors influencing treatment. Patients were followed up one year after discharge to assess vital status, cardiovascular events, and anticoagulation therapy status. Results: Among 155 patients, 52.26% were female, and the average age was 75.77 years. The awareness rate of AF was 47.74% at admission, and only 21.94% received anticoagulant therapy. After discharge, the rate of anticoagulant therapy significantly increased to 70.97%, and 89.09% used new oral anticoagulants. Thromboembolic history and persistent AF predicted anticoagulant therapy at discharge, while male gender, previous bleeding history, and antiplatelet therapy predicted non-anticoagulant therapy. Out of 133 patients who completed a one-year follow-up, 23.31% died, 3.01% had strokes, and 3.01% experienced bleeding. Anticoagulant therapy decreased to 51.96% during the follow-up year. Conclusion: Our findings highlight the low awareness rate and anticoagulant treatment rate, and high mortality among elderly NVAF patients in Dali. The development of comprehensive intervention strategies is critical to standardize AF management and improve prognosis.

Disassociation of social and sexual partner relationships in a gibbon population with stable one-male two-female groups.

Adult males living in a one-male multi-female social group are expected to try to monopolize copulations with resident females to increase reproductive fitness. Gibbons have traditionally been described as living in monogamous groups, with the sole resident adult male assumed to sire all of the group's offspring. Here, we used microsatellite analyses and behavioral observations to examine rates of extra-group paternity (EGP) over 16 years in a population of crested gibbons (Nomascus concolor) that form stable and long-term one-male two-female social units. Forty percent of offspring (N = 14) were sired by extra-group males. To understand this high level of EGP, we tested whether inbreeding avoidance was related to EGP. Females who engaged in EGP did not show larger pairwise relatedness with their resident male compared to females who did not engage in EGP. Nevertheless, the standardized heterozygosity of EGP offspring was significantly higher than for offspring sired by the group's resident male. These results provide partial support for the inbreeding avoidance hypothesis. It appears that resident male crested gibbons are unable to monopolize resident females' matings. Our results indicate that long-term social partners are often distinct from sexual partners in this population. Clearly, the breeding system of crested gibbons is more flexible than previously thought, indicating a need for integrating long-term behavioral data and genetic research to re-evaluate gibbon social and sexual relationships derived from concepts of monogamy and pair-bonding.

No significant association of serum klotho concentration with blood pressure and pulse wave velocity in a Chinese population.

Klotho, an important anti-aging protein, may be related to elevated blood pressure (BP) and arterial stiffness. We aimed to investigate associations between the serum klotho concentration and peripheral/central BP and arterial stiffness based on the carotid-femoral pulse wave velocity (cfPWV) in a Chinese population. We invited all inhabitants aged ≥ 18 years in two Dali communities for participation. The SphygmoCor system was used to record radial arterial waveforms. Aortic waveforms were derived using a generalized transfer function. The central BP was assessed by calibrating the brachial BP, which was measured using an oscillometric device. The serum klotho concentration was measured using an enzyme-linked immunosorbent assay and logarithmically transformed. Of the 716 participants (mean age: 51.9 ± 12.6 years), 467 (65.2%) were women. The median serum klotho concentration was 381.8 pg/mL. The serum klotho concentration did not significantly differ between patients with and without hypertension (P > 0.05) and between those with and without arterial stiffness (cfPWV ≥ 10 m/s) (P > 0.05). After adjusting for confounders, the serum klotho concentration was not significantly associated with the peripheral or central BP (P > 0.05) and cfPWV (P > 0.05). Our data indicated that the serum klotho concentration was not associated with BP or cfPWV in the general Chinese population.

Association of thyroid hormones with blood pressure and arterial stiffness in the general population: The Dali study.

Thyroid dysfunction plays a role in blood pressure (BP) regulation. However, the associations between thyroid function and BP and arterial stiffness in the general Chinese population without thyroid disease are unknown. This population-based cross-sectional study aimed to investigate the association between thyroid function and peripheral and central BP and arterial stiffness in Chinese individuals. After excluding those who had thyroid diseases or incomplete clinical measurements, this study included 691 participants. Of the participants, 444 (64.2%) were women and 215 (31.1%) had hypertension. After adjustment for covariates, serum FT3 was significantly associated with a higher pulse rate in both sexes. In men, each 2.72-fold increase in serum FT4 levels was associated with higher peripheral systolic BP (+10.82 mmHg, p = .005) and pulse pressure (+5.71 mmHg, p = .03). Each 2.72-fold increase in serum FT4 levels was associated with higher central systolic BP (+8.03 mmHg, p = .03) and pulse pressure (+3.89 mmHg, p = .05). In women, serum FT4 was only associated with a higher central pulse pressure (+2.96 mmHg, p = .04). After adjustment for covariates, serum FT4 was significantly associated with a faster cfPWV exclusively in men. Our study showed that serum FT4 is associated with higher peripheral and central BP and faster cfPWV in men, whereas serum FT3 is positively associated with a higher pulse rate in both sexes, indicating that the effects of thyroid function on BP and arterial stiffness are more significant in men than in women.

Molecular phylogeny and divergence time of Trachypithecus: with implications for the taxonomy of T. phayrei.

The genus Trachypithecus is the most diverse langur taxon, distributed in southwestern China, south and southeastern Asia. In this study, we include 16 recognized Trachypithecus species to reconstruct the phylogeny with particular concern to the taxonomy of the three subspecies of T. phayrei using multiple genes. Our results support a sister-relationship between T. p. phayrei and T. p. shanicus. However, the mitochondrial CYT B gene supported T. p. crepuscula as a distinct species, but the nuclear PRM1 gene suggested a closer relationship between T. p. crepuscula and T. p. phayrei. The incongruence between nuclear and mitochondrial genes suggests that hybridization may have occurred, a fact that would benefit from re-examination using multiple unlinked nuclear genes.