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Analysis on trend of hearing changes in infants with p.V37I mutation in GJB2 gene at different months of age

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2025 Jan;39(1):10-13;18. doi: 10.13201/j.issn.2096-7993.2025.01.003.

ABSTRACT

Objective:To explore the trend of hearing changes in infants with GJB2 gene p.V37I mutation at different months. Methods:The subjects were 54 children(108 ears) with p.V37I homozygous or compound heterozygous mutation in GJB2 gene. All the subjects underwent auditory brainstem response, auditory steady-state response, acoustic immittance and other audiological tests. Children were divided into three groups according to their age, 26 cases in group A were ≤3 months old, 17 cases in group B were>3~≤6 months old, and 11 cases in group C were>6 months old. Statistical analysis was performed on the three groups of ABR response threshold, hearing degree, the ASSR average response threshold of four frequencies and the ASSR response thresholds for each frequency of 500, 1 000, 2 000 and 4 000 Hz. Results:Among the 54 cases, 35 were male and 19 were female, with an age rang of 2-27 months and a median age of 4 months. The ABR response threshold of the three groups were ranked from low to high as group A, group B and group C, and the difference was statistically significant(P<0.05). The ABR response thresholds of the three groups were ranked from low to high as group A, group B, and group C. The comparison between groups showed that the ABR response thresholds of group C was higher than that of group A(P=0.006). The proportion of confirmed hearing loss in the three groups was 34.61%, 50.00% and 63.64%, respectively, and the difference of hearing level among the three groups was statistically significant(P<0.05). The comparison between groups showed that the difference between group A and group C was statistically significant(P=0.012), normal hearing accounted for the highest proportion in group A(65.39%), while mild hearing loss accounted for the highest proportion in group C(45.46%). The ASSR average response thresholds of the four frequencies in the three groups were ranked from low to high as group A, group B and group C, and the difference is statistically significant(P<0.05). The comparison between groups showed that response ASSR thresholds of group C was higher than that of group A(P=0.002). Response thresholds of ASSR in each frequency in the three groups were all ranked from low to high as in group A, group B and group C, and the differences were statistically significant(P<0.05). Compared with each other between groups, response ASSR thresholds of group C was higher than those of group A(P=0.003) and group B(P=0.015) at 500 Hz, while response ASSR thresholds of group C was higher than group A at 1 000 Hz(P=0.010) and 2 000 Hz(P<0.001), and there was no statistical difference at 4 000 Hz. Conclusion:The incidence of hearing loss in GJB2 gene p.V37I mutation increased with age, and the degree of hearing loss increased, the hearing progression was mainly 500, 1 000 and 2 000 Hz suggesting regular follow-up and alert to hearing changes.

PMID:39734165 | DOI:10.13201/j.issn.2096-7993.2025.01.003

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Changes in nutritional status and effectiveness of the dietary intervention of multimodal prehabilitation for patients with colorectal cancer: a secondary analysis of the PREHAB randomized clinical trial

Clin Nutr ESPEN. 2024 Dec 27:S2405-4577(24)01569-9. doi: 10.1016/j.clnesp.2024.12.024. Online ahead of print.

ABSTRACT

BACKGROUND & AIMS: Prehabilitation is a preoperative multimodal program including exercise, nutritional, and psychological support. Little is known about changes in nutritional status during prehabilitation.

METHODS: This secondary analysis of the PREHAB trial aims to assess changes in nutritional status and explore the effectiveness of a four-week nutritional intervention. Data were collected at baseline and preoperatively (end of the program), including body composition with bioelectrical impedance analysis (single frequency, 50kHz), muscle strength (indirect 1RM leg press), three-day food diaries and the scored PG-SGA. Protein requirements were set at 1.5 g/kg body weight.

RESULTS: Sixty-seven participants were enrolled, 34 to standard care and 33 to four-week prehabilitation. Nutritional status improved in both groups: -1 point change in the standard care group (p =, 0.027), and -1.5 point in the prehabilitation group (p = 0.015). Those who received prehabilitation statistically increased fat free mass (0.9kg, p = 0.017) and appendicular skeletal muscle mass (0.5kg, p = 0.007. In contrast, an increase in fat mass (0.6kg, p = 0.016) was observed within the standard care group only. Participants in the prehabilitation group had a substantial increase of 27% muscle strength (p = <0.001). Optimal protein intake was more often achieved within the prehabilitation group (47%, p = <0.001).

CONCLUSION: Our study provides evidence for the positive impact of multimodal prehabilitation on preoperative nutritional status in adult patients with CRC, especially in body composition and muscle strength. Achieving optimal protein intake was challenging, both dietary counseling and supplements are recommended to improve intake.

PMID:39734017 | DOI:10.1016/j.clnesp.2024.12.024

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Flush endovenous laser ablation (fEVLA) in the treatment of lower limb venous insufficiency a systematic review and meta-analysis

Ann Vasc Surg. 2024 Dec 27:S0890-5096(24)00861-6. doi: 10.1016/j.avsg.2024.12.041. Online ahead of print.

ABSTRACT

PURPOSE: To assess the safety and efficacy of flush endovenous laser ablation (fEVLA) in the treatment of chronic venous insufficiency.

MATERIALS AND METHODS: Following the PRISMA 2020 guidelines, a systematic review aiming to identify studies published from inception to March 2024 was conducted. The investigation covered single-arm studies and studies comparing fEVLA to standard EVLA (sEVLA). The primary endpoint was endovenous heat-induced thrombosis (EHIT) class ≥II.

RESULTS: Eleven studies encompassing 2738 patients and 3147 truncal veins were included. The pooled EHIT ≥II was 1.37% (95%CI:0.57-3.28). Meta-regression identified an association between linear endovenous energy density (LEED) applied at the saphenofemoral junction and EHIT ≥II outcomes (β=0.011,p<0.01). The pooled medium-term GSV occlusion was 97.59% (95% CI:94.89-98.88). The pooled and crude deep vein thrombosis and pulmonary embolism estimates were 0.97% (95%CI:0.64-1.47) and 0.04%. The comparative analysis regarding GSV occlusion, odds ratio (OR) 3.26 (95%CI:0.76-13.97) and refluxing anterior accessory saphenous vein (AASV), RR 0.45 (95%CI:0.11-1.77) suggested a non-statistically significant trend favoring fEVLA. Non-statistically significant differences were identified in terms of EHIT ≥II between the techniques, risk ratio (RR) 1.00(95%CI:0.18-5.53). Statistically-significant differences favoring fEVLA were identified in terms of proximal groin recurrence RR 0.35 (95%CI:0.16-0.80) and stump length (mean difference) MD -7.23 (95% CI:-11.59to-2.88).

CONCLUSION: This review has demonstrated the safety of fEVLA while also suggesting a potentially improved efficacy of fEVLA over sEVLA in terms of proximal groin recurrence. Moreover, the trend indicating fEVLA’s superiority in terms of GSV occlusion and the occurrence of new-onset AASV reflux merits further research.

PMID:39734000 | DOI:10.1016/j.avsg.2024.12.041

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Temporal changes in Plasmodium falciparum genetic diversity and multiplicity of infection across three areas of varying malaria transmission intensities in Uganda

Trop Med Health. 2024 Dec 30;52(1):103. doi: 10.1186/s41182-024-00672-7.

ABSTRACT

BACKGROUND: Malaria is a significant public health challenge in Uganda, with Plasmodium falciparum (P. falciparum) responsible for most of malaria infections. The high genetic diversity and multiplicity of infection (MOI) associated with P. falciparum complicate treatment and prevention efforts. This study investigated temporal changes in P. falciparum genetic diversity and MOI across three sites with varying malaria transmission intensities. Understanding these changes is essential for informing effective malaria control strategies for the different malaria transmission settings.

METHODS: A total of 220 P. falciparum-positive dried blood spot (DBS) filter paper samples from participants in a study conducted during 2011-2012 and 2015-2016 were analyzed. Genotyping utilized seven polymorphic markers: Poly-α, TA1, TA109, PfPK2, 2490, C2M34-313, and C3M69-383. Genetic diversity metrics, including the number of alleles and expected heterozygosity, were calculated using GENALEX and ARLEQUIN software. MOI was assessed by counting distinct genotypes. Multi-locus linkage disequilibrium (LD) and genetic differentiation were evaluated using the standardized index of association (IAS) and Wright’s fixation index (FST), respectively. Statistical comparisons were made using the Kruskal-Wallis test, and temporal trends were analyzed using the Jonckheere-Terpstra test, with statistical significance set at p < 0.05.

RESULTS: Of the 220 samples, 180 were successfully amplified. The majority of participants were males (50.6%) and children aged 5-11 years (46.7%). Genetic diversity remained high, with mean expected heterozygosity (He) showing a slight decrease over time (range: 0.73-0.82). Polyclonal infections exceeded 50% at all sites, and mean MOI ranged from 1.7 to 2.2, with a significant reduction in Tororo (from 2.2 to 2.0, p = 0.03). Linkage disequilibrium showed a slight increase, with Kanungu exhibiting the lowest IAS in 2011-2012 (0.0085) and Jinja the highest (0.0239) in 2015-2016. Overall genetic differentiation remained low, with slight increases in pairwise FST values over time, notably between Jinja and Tororo (from 0.0145 to 0.0353).

CONCLUSIONS: This study highlights the genetic diversity and MOI of P. falciparum in Uganda’s malaria transmission settings, noting a slight decrease in both genetic diversity and MOI overtime. Continued surveillance and targeted control strategies are essential for monitoring the impact of malaria control efforts in Uganda.

PMID:39734236 | DOI:10.1186/s41182-024-00672-7

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Disentangling the genetic overlap between ischemic stroke and obesity

Diabetol Metab Syndr. 2024 Dec 30;16(1):314. doi: 10.1186/s13098-024-01555-x.

ABSTRACT

OBJECTIVE: Obesity has been recognized as a risk factor for cerebrovascular diseases, with observational studies suggesting a heightened incidence of stroke. However, the genetic epidemiology field has yet to reach a consensus on the causal relationship and genetic overlap between ischemic stroke (IS) and obesity.

METHODS: We utilized linkage disequilibrium score regression, high-definition likelihood, and local analysis of variant associations to assess the genetic correlation between body mass index (BMI) and IS. Bidirectional Mendelian randomization was employed to infer causality. We identified shared risk single nucleotide polymorphisms (SNPs) through cross-trait meta-analyses and estimated heritability using summary statistics. Summary-data-based Mendelian randomization (SMR) was applied to explore potential functional genes.

RESULTS: Our analysis revealed a significant positive genetic correlation between BMI and IS, supporting a causal link from BMI to IS. Cross-trait analysis yielded 9 and 16 shared risk SNPs for IS and small vessel stroke (SVS), respectively. We observed a notable enrichment of SNP heritability for IS and BMI in brain tissues, suggesting tissue-specific influences. The genes shared between the traits were predominantly involved in brain development, synaptic electrical activity, and immunoregulation. Notably, our SMR analysis identified the risk genes CHAF1A, CEP192, ULK4, CYP2D6, AS3MT, and WARS2 across the majority of the 14 enriched tissues shared by both traits.

CONCLUSION: Our study uncovered a significant genetic correlation and identified shared risk SNPs between BMI and IS. The identification of CHAF1A, CEP192, ULK4, CYP2D6, AS3MT, and WARS2 as potential functional genes common to both obesity and IS enriched our understanding of their genetic interplay, potentially advanced our grasp of their pathogenesis and therapeutic targets.

PMID:39734234 | DOI:10.1186/s13098-024-01555-x

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Peribulbar vs. incisionless sub-Tenon’s blocks: a retrospective cohort study

Eur J Med Res. 2024 Dec 30;29(1):635. doi: 10.1186/s40001-024-02251-2.

ABSTRACT

BACKGROUND: Ophthalmic procedures are increasingly being performed under regional anesthesia techniques such as peribulbar and incisionless sub-Tenon’s blocks. The aim is to compare peribulbar block with incisionless sub-Tenon’s block in terms of perioperative complications in patients who underwent cataract and vitreoretinal surgeries.

METHODS: The patients who underwent cataract or vitroretinal surgery under peribulbar block or incisionless sub-Tenon’s block were included in the study. Two groups were compared each other in terms of anesthesia-related complications.

RESULTS: A total of 125 patients [peribulbar block (N = 48) and incisionless sub-Tenon’s block (N = 77)] were included in the study. All basic characteristics and perioperative hemodynamic parameters were similar between the groups. One (0.8%) patient in the peribulbar block developed retrobulbar hemorrhage, whereas there was no major complication in the incisionless sub-Tenon’s group (P = 0.389). At 15th minutes after block and at the end of the operation, minor complications including chemosis and subconjunctival hemorrhage were observed significantly lower in the peribulbar block group in comparison to the incisionless sub-Tenon’s block group (P < 0.05).

CONCLUSIONS: Minor complications including subconjunctival haemorrhage and chemosis were more common in the incisionless sub-Tenon’s block; however, this difference was statistically balanced on the first postoperative day. One patient in the peribulbar block developed retrobulbar hemorrhage, whereas there was no major complication in the incisionless sub-Tenon’s block. According to those results, incisionless sub-Tenon’s block seems to be a safe and reliable alternative for ophthalmic procedures.

PMID:39734231 | DOI:10.1186/s40001-024-02251-2

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Palliative endoscopic treatment of malignant central airway obstruction

BMC Pulm Med. 2024 Dec 29;24(1):635. doi: 10.1186/s12890-024-03432-9.

ABSTRACT

PURPOSE: To examine the outcome of palliative endoscopic treatment of malignant central airway obstruction (CAO) and identify predictors for Days Alive and Out of Hospital (DAOH), overall survival and treatment related complications.

METHODS: Consecutive adult patients treated endoscopically for malignant CAO at Aarhus University Hospital from 2012 to 2022 were included in the study. Statistical analyses were carried out to identify predictors for DAOH, survival and complications.

RESULTS: 127 consecutive patients met the inclusion criteria. The majority of patients were categorised with stage IV lung cancer, the majority being males, with a median age of 67 years. The endoscopic interventions were mainly tumour debulking combined with airway stent insertion or tumour debulking alone. The complication rate was 21.0% and the mortality rate was 3.9%. In total, 89.8% of the patients experienced symptom relief following surgery, and the majority (92.1%) were discharged from hospital within two days after intervention. Mean survival time following intervention was 144 days, mean DAOH30 was 20.8 and mean DAOH365 was 157. Survival was associated with comorbidity, type of intervention, preoperative respiratory support and postoperative oncologic treatment. A high preoperative ASA-score, preoperative respiratory support, urgency of intervention, female gender and insertion of airway stent were predictors for a poorer DAOH-outcome.

CONCLUSION: Endoscopic palliative treatment of malignant CAO is generally feasible and safe, offering symptom relief in most cases. The method is considered an effective measure for short to median term palliation of respiratory distress.

PMID:39734226 | DOI:10.1186/s12890-024-03432-9

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Comparison of ELISA and IFAT for Leishmania infantum by European and Middle Eastern diagnostic laboratories

Parasit Vectors. 2024 Dec 29;17(1):545. doi: 10.1186/s13071-024-06631-9.

ABSTRACT

BACKGROUND: Visceral leishmaniosis (VL) is the most severe form of human leishmaniosis, with an estimated 95% case fatality if left untreated. Dogs act as peridomestic reservoir hosts for the protozoan parasite Leishmania infantum, a causative agent for human leishmaniosis, endemic throughout the Mediterranean basin. To assure consistent and accurate surveillance of canine infection and prevent transmission to people, consistent diagnosis of canine L. infantum infection across this region is essential for protecting both human and animal health. Our goal was to compare the accuracy, sensitivity and specificity of enzyme-linked immunosorbent assays (ELISA) and immunofluorescence antibody tests (IFAT), performed at seven academic veterinary diagnostic centres across southern Europe and Israel.

METHODS: We performed a known sample “ring” trial to compare L. infantum quantitative serological tests. Two hundred seventy-two (n = 272) canine serum samples of known serological status were chosen from these sites, representative of the region. In-house or commercial ELISA and IFAT were performed according to each laboratory’s specifications. Latent Class Analysis (LCA) was used to determine sensitivity and specificity of each test. True and false positives were calculated to determine the probability of identifying samples.

RESULTS: Sensitivity and specificity for ELISA ranged from 95 to 99% and 92% to 97%, respectively, with moderate variability from one site. Sensitivity and specificity for IFAT ranged from 89 to 99% and 83% to 94%, respectively, with increased variability compared to ELISA. Overall test agreement was 78% with a pair-wise agreement between 65 and 89%.

CONCLUSIONS: All sites demonstrated substantial comparative diagnostic accuracy, with good agreement based on known seropositive and seronegative samples. Studies and interventional trials that use these tests will remain valid because of high diagnostic agreement between sites.

PMID:39734221 | DOI:10.1186/s13071-024-06631-9

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CBCT analysis of the incidence of maxillary lateral incisor dens invaginatus and its impact on periodontal supporting tissues

BMC Oral Health. 2024 Dec 30;24(1):1569. doi: 10.1186/s12903-024-05376-2.

ABSTRACT

BACKGROUND: Dens invaginatus is a developmental abnormality originating from tooth development, including coronal invaginatus and radicular invaginatus. The reported incidence varies greatly due to diagnostic techniques, classification criteria and race. The incidence of dens invaginatus in China was not clear, and the impact of dens invaginatus on periodontal support tissue were rarely reported. This study aims to clarify the incidence of maxillary lateral incisor dens invaginatus and its impact on periodontal supporting tissues.

METHODS: From the cone-beam computed tomography database, images of 212 maxillary lateral incisors from 106 Chinese patients were selected. Teeth that met the Oehlers classification criteria for coronal invaginatus were recorded as coronal invaginatus, and teeth with radicular cystoid invaginatus or radicular groove were classified as radicular dens invaginatus. The complexity of radicular groove was determined by Gu’s classification standard. Both of coronal invaginatus and radicular dens invaginatus were recorded as dens invaginatus. For 15 patients with unilateral radicular dens invaginatus, the periodontal ligament area of the affected teeth and the corresponding natural teeth in the same jaw were measured and compared.

RESULTS: The overall incidence of maxillary lateral incisor invaginatus in China is 25.0%. The incidence of coronal invaginatus is 12.3%, and the incidence of radicular dens invaginatus is 14.6%. No significant differences were observed between genders or sides. In this study, all radicular dens invaginatus exhibited as radicular groove, of which 87.1% were Gu type I, 9.7% were Gu type II, and 3.2% were Gu type III. Although the difference was not statistically significant, the average periodontal ligament area of the maxillary lateral incisor with radicular dens invaginatus was 148.93 ± 35.62mm2, smaller than that of the control teeth (152.28 ± 40.22mm2).

CONCLUSIONS: The dens invaginatus of the maxillary lateral incisor is common. There is no significant difference in the incidence between genders or between sides. The main manifestation of the radicular dens invaginatus is the radicular groove (Gu’s type I). This anatomical abnormality may reduce the periodontal ligament area. The presence of the additional root of the maxillary lateral incisor is not rare and was supposed to be highly concerned by dentists.

PMID:39734211 | DOI:10.1186/s12903-024-05376-2

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Nanoparticle and microparticle-based systems for enhanced oral insulin delivery: A systematic review and meta-analysis

J Nanobiotechnology. 2024 Dec 29;22(1):802. doi: 10.1186/s12951-024-03045-8.

ABSTRACT

Diabetes mellitus (DM) prevalence is rising worldwide. Current therapies comprising subcutaneous insulin injections can cause adverse effects such as lipodystrophy, local reactions like redness and swelling, fluid retention, and allergic reactions. Nanoparticle carriers for oral insulin are groundbreaking compared to existing methods because they are non-invasive treatments, showing operational convenience, controlled release profile, and ability to simulate the physiological delivery route into the bloodstream. These systems improve patient adherence and have demonstrated the potential to lower blood glucose levels in DM. We present a systematic review and meta-analysis aimed at compiling relevant data to pave the way for developing innovative nano- and microparticles for the oral delivery of insulin. Our analysis of 85 articles revealed that the diminution of glucose levels is not proportional to the administered insulin dosage, which ranged from 1 to 120 International Units (IU). The meta-analysis data indicated that 25 IU of encapsulated porcine insulin did not produce a statistically significant outcome (p = 0.93). In contrast, a dosage of 30 IU was efficacious in eliciting an optimal hypoglycemic effect compared to excipient controls. Parameters such as a high degree of encapsulation (~ 90%), particle size (200-400 nm), and polydispersity index (0.086-0.3) are all associated with lower blood glucose levels. These parameters were also significant in the linear regression analysis. Among the excipients employed, chitosan emerged as a prevalent excipient in formulations due to its biocompatible and biodegradable properties and its ability to establish stable polymeric matrices. Even though oral insulin administration is a promising therapeutic method, it cannot guarantee preclinical safety and therapeutic efficacy yet in regulating glucose levels in diabetic conditions.

PMID:39734205 | DOI:10.1186/s12951-024-03045-8