The economic rationale for cell-based influenza vaccines in children and adults: A review of cost-effectiveness analyses.

Seasonal influenza significantly affects both health and economic costs in children and adults. This narrative review summarizes published cost-effectiveness analyses (CEAs) of cell-based influenza vaccines in children and adults <65 years of age, critically assesses the assumptions and approaches used in these analyses, and considers the role of cell-based influenza vaccines for children and adults. CEAs from multiple countries demonstrated the cost-effectiveness of cell-based quadrivalent influenza vaccines (QIVc) compared with egg-based trivalent/quadrivalent influenza vaccines (TIVe/QIVe). CEA findings were consistent across models relying on different relative vaccine effectiveness (rVE) estimate inputs, with the rVE of QIVc versus QIVe ranging from 8.1% to 36.2% in favor of QIVc. Across multiple scenarios and types of analyses, QIVc was consistently cost-effective compared with QIVe, including in children and adults across different regions of the world.

Ectopic pregnancy located at pelvic wall and liver: Two uncommon case reports from Vietnam and mini-review literature.

INTRODUCTION AND IMPORTANCE: Abdominal ectopic pregnancy (AEP) located at hepatic region and pelvic-wall ectopic pregnancy (EP) are rare entities, that provoking a potentially life-threatening condition. Due to insufficient data, a proper management of non-specific types remains a challenge for all gynecologists worldwide. CASE PRESENTATION: Two child-bearing age women were hospitalized due to delayed menstruation and a urine pregnancy test was positive without a determination of intrauterine pregnancy. The first EP case was located at the pelvic wall which identified incidentally during laparoscopy for a presumed tubal ectopic pregnancy on ultrasonography throughout. The second EP case was found at the hepatic region due to intermittent pain rising from the right upper quadrant region and serial ultrasonic findings. In our management, both cases were successfully assessed by laparoscopy and laparotomy without requiring further intervention, respectively. CLINICAL DISCUSSION: An accurate diagnosis of EP location at liver and pelvic wall is totally difficult since its uncommon location. An initial assessment should be based on clinical symptoms and the treatment remains controversial. The surgical management including laparotomy and laparoscopy depends on clinical evaluation, experience of surgeon, and interdisciplinary team. Thus, these abnormal sites of ectopic pregnancy ought to take into consideration for all gynecologists in an emergency condition with a major hemorrhage. CONCLUSIONS: In reproductive age women, primary EP at liver and pelvic wall should be considered with high index of suspicion if intrauterine pregnancy is totally excluded. Timely diagnosis, rational management by surgical excision, and a multidisciplinary team can reduce substantially adverse outcomes.

The impact of COVID-19 and other factors on the usage status of the biologic drug therapies for rheumatoid arthritis: A study from Vietnam / El impacto de COVID-19 y otros factores en el estado de uso de las terapias farmacológicas biológicas para la artritis reumatoide: un estudio de Vietnam

Objectives: To describe the status of using biological Disease Modifying Anti Rheumatic Drugs (bDMARDs) to treat rheumatoid arthritis (RA) and related factors. In addition, the study determined the impact of COVID-19 on the usage of bDMARDs. Methods: This is a cross-sectional study and included 219 RA patients over 18 years old. The Kaplan–Meier method and the log-rank test (p<0.05) were used to estimate the retention time and compare between different times. Cox regression analysis was used to determine the factors affecting the retention time of biological drugs (p<0.05). Results: Out of 1967 courses of treatment, there were 149 (7.6%) drug discontinuations, 760 (38.6%) doses extensions and 64 (3.3%) drug switch. Moderate disease level and choosing tumor necrosis factor (TNF) inhibitors initially were associated with retention time of COVID-19. Drug discontinuations and dose extensions increased after COVID-19 emergence. The retention time during COVID-19 was significantly different from that of pre-COVID-19. Gender, type of first-used bDMARD, conventional synthetic DMARDs (csDMARDs) and corticoid usage status, disease activity levels were associated with retention time. Conclusion: The presence of COVID-19 has a significant effect on usage status of the biologic drug. Further longitudinal studies are needed to clarify the relationship between COVID-19 and drug usage as well as related factors.(AU)

Objetivos: Describir el estado del uso de fármacos antirreumáticos modificadores de la enfermedad biológica (bDMARD) para tratar la artritis reumatoide (AR) y los factores relacionados. Además, el estudio determinó el impacto de COVID-19 en el uso de bDMARD. Métodos: Este es un estudio transversal que incluyó a 219 pacientes con AR mayores de 18 años. El método Kaplan-Meier y la prueba Log-rank (p<0,05) se usaron para estimar el tiempo de retención y compararlo entre diferentes tiempos. El análisis de regresión de Cox se utilizó para determinar los factores que afectan el tiempo de retención de los medicamentos biológicos (p<0,05). Resultados: De 1.967 cursos de tratamiento, hubo 149 (7,6%) interrupciones del fármaco, 760 (38,6%) extensiones de dosis y 64 (3,3%) cambios de fármaco. Nivel de enfermedad moderado y elección del factor de necrosis tumoral (TNF) inhibidores inicialmente se asociaron con el tiempo de retención de COVID-19. Las discontinuaciones de los medicamentos y las extensiones de las dosis aumentaron después de la aparición de COVID-19. El tiempo de retención durante COVID-19 fue significativamente diferente del pre-COVID-19. Género, tipo de bDMARD de primer uso, convencional DMARD sintéticos (csDMARDs) y el estado de uso de corticoides, los niveles de actividad de la enfermedad se asociaron con el tiempo de retención. Conclusión: La presencia de COVID-19 tiene un efecto significativo en el estado de uso del medicamento biológico. Se necesitan más estudios longitudinales para aclarar la relación entre COVID-19 y el uso de fármacos, así como los factores relacionados.(AU)

The impact of COVID-19 and other factors on the usage status of the biologic drug therapies for rheumatoid arthritis: A study from Vietnam.

OBJECTIVES: To describe the status of using biological Disease Modifying Anti Rheumatic Drugs (bDMARDs) to treat rheumatoid arthritis (RA) and related factors. In addition, the study determined the impact of COVID-19 on the usage of bDMARDs. METHODS: This is a cross-sectional study and included 219 RA patients over 18 years old. The Kaplan-Meier method and the log-rank test (p<0.05) were used to estimate the retention time and compare between different times. Cox regression analysis was used to determine the factors affecting the retention time of biological drugs (p<0.05). RESULTS: Out of 1967 courses of treatment, there were 149 (7.6%) drug discontinuations, 760 (38.6%) doses extensions and 64 (3.3%) drug switch. Moderate disease level and choosing tumor necrosis factor (TNF) inhibitors initially were associated with retention time of COVID-19. Drug discontinuations and dose extensions increased after COVID-19 emergence. The retention time during COVID-19 was significantly different from that of pre-COVID-19. Gender, type of first-used bDMARD, conventional synthetic DMARDs (csDMARDs) and corticoid usage status, disease activity levels were associated with retention time. CONCLUSION: The presence of COVID-19 has a significant effect on usage status of the biologic drug. Further longitudinal studies are needed to clarify the relationship between COVID-19 and drug usage as well as related factors.

Comparison of COVID-19 and Influenza-Related Outcomes in the United States during Fall-Winter 2022-2023: A Cross-Sectional Retrospective Study.

Influenza and COVID-19 contribute significantly to the infectious disease burden during the respiratory season, but their relative burden remains unknown. This study characterizes the frequency and severity of medically attended COVID-19 and influenza during the peak of the 2022-2023 influenza season in the pediatric, adult, and older adult populations and characterizes the prevalence of underlying conditions among patients hospitalized with COVID-19. This cross-sectional analysis included individuals in the Veradigm EHR Database linked to Komodo claims data with a medical encounter between 1 October 2022 and 31 March 2023 (study period). Patients with medical encounters were identified with a diagnosis of COVID-19 or influenza during the study period and stratified based on the highest level of care received with that diagnosis. Among 23,526,196 individuals, there were more COVID-19-related medical encounters than influenza-related encounters, overall and by outcome. Hospitalizations with COVID-19 were more common than hospitalizations with influenza overall (incidence ratio = 4.6) and in all age groups. Nearly all adults hospitalized with COVID-19 had at least one underlying medical condition, but 37.1% of 0-5-year-olds and 25.0% of 6-17-year-olds had no underlying medical conditions. COVID-19 was associated greater burden than influenza during the peak of the 2022-2023 influenza season.

High Ferritin and Low Total Iron-Binding Capacity in Plasma Predict All-Cause Mortality During the First 3 Years of Hemodialysis in Patients with End-Stage Chronic Kidney Disease.

Aim: To determine all-cause mortality rate and the predictive value of plasma ferritin and total iron-binding capacity (TIBC) concentrations for mortality during the first 3 years of hemodialysis in patients with end-stage chronic renal disease (ESRD). Methods: We conducted a study on 174 ESRD patients (estimated Glomerular Filtration Rate < 15 mL/min/1.73m2). The plasma TIBC level was quantified by the ELISA method in all patients at the time before hemodialysis. Based on TIBC concentration, patients were divided equally into 2 groups. Each group had 87 patients. Patients were initiated on hemodialysis, and patients who died from any cause during the first 3 years of hemodialysis were recorded. Results: The all-cause mortality rate of ESRD patients in the first 3 years of maintenance hemodialysis was 22.9%. Plasma high hs-CRP, high ferritin, and low TIBC concentrations were independent factors associated with all-cause mortality in the patients. Plasma ferritin (cut-off value = 454.2 ng/L) and TIBC (cut-off value = 39.84 µmol/L) were predictors of all-cause mortality, AUC is: 0.772; 0.723, p < 0.001. Conclusion: Plasma ferritin and TIBC were good predictors of all-cause mortality in ESRD patients during the first 3 years of hemodialysis.

Modelling the population-level benefits and cost-effectiveness of cell-based quadrivalent influenza vaccine for children and adolescents aged 6 months to 17 years in the US.

BACKGROUND: Cell-based quadrivalent influenza vaccines (QIVc) can increase effectiveness against seasonal influenza by avoiding mismatch from egg adaption of vaccine viruses. This study evaluates the population-level cost-effectiveness and impacts on health outcomes of QIVc versus an egg-based vaccine (QIVe) in children aged 6 months to 17 years in the US. RESEARCH DESIGN AND METHODS: A dynamic age-structured susceptible-exposed-infected-recovered model was used to simulate influenza transmission in low and high incidence seasons for two scenarios: 1. QIVe for 6 months-17 year-olds, QIVc for 18-64 year-olds, and adjuvanted QIV (aQIV) for ≥ 65 year-olds, and 2. QIVc for 6 months-64 year-olds, and aQIV for ≥ 65 year-olds. Probabilistic sensitivity analysis was performed to account for uncertainty in parameter estimates. Cost-effectiveness was evaluated as incremental cost-effectiveness ratios (ICERs). RESULTS: Extension of QIVc to children resulted in 3-4% reductions in cases (1,656,271), hospitalizations (16,688), and deaths (2,126) at a population level in a high incidence season, and 65% reductions (cases: 2,856,384; hospitalizations: 31667; deaths: 4,163) in a low incidence season. Use of QIVc would be cost-saving, with ICERs of -$16,427/QALY and -$8,100/QALY from a payer perspective and -$22,669/QALY and -$15,015/QALY from a societal perspective, for low and high incidence seasons respectively. Cost savings were estimated at approximately $468 million and $1.366 billion for high and low incidence seasons, respectively. CONCLUSION: Use of QIVc instead of QIVe in children > 6 months of age in the US would reduce the disease burden and be cost-saving from both a payer and societal perspective.

Carotane sesquiterpenes from Peperomia pellucida and their anti-infective activities.

Owing to the challenges of antimicrobial resistance, investigations of new antibiotics from medicinal plants are continuously being conducted. Peperomia pellucida is a pantropical plant used in traditional medicine for the treatment of various disorders. From the ethanol extract of a whole P. pellucida plant, one previously undescribed carotane sesquiterpene (pellucarotine), one known carotane sesquiterpene (daucol), and one phenylpropanoid (dillapiol) were isolated and structurally elucidated. Their structures were determined based on 1D and 2D NMR, HR-ESI-Mass, experimental, and computational electronic circular dichroism spectroscopic data and compared with those reported in the literature. Antimicrobial assay results showed that pellucarotine had an anti-infective effect on Candida albicans with an MIC of 512 µg/mL.

Comparative Effectiveness of Bivalent (Original/Omicron BA.4/BA.5) COVID-19 Vaccines in Adults.

The emergence of Omicron variants coincided with declining vaccine-induced protection against SARS-CoV-2. Two bivalent mRNA vaccines, mRNA-1273.222 (Moderna) and BNT162b2 Bivalent (Pfizer-BioNTech), were developed to provide greater protection against the predominate circulating variants by including mRNA that encodes both the ancestral (original) strain and BA.4/BA.5. We estimated their relative vaccine effectiveness (rVE) in preventing COVID-19-related outcomes in the US using a nationwide dataset linking primary care electronic health records and pharmacy/medical claims data. The study population (aged ≥18 years) received either vaccine between 31 August 2022 and 28 February 2023. We used propensity score weighting to adjust for baseline differences between groups. We estimated the rVE against COVID-19-related hospitalizations (primary outcome) and outpatient visits (secondary) for 1,034,538 mRNA-1273.222 and 1,670,666 BNT162b2 Bivalent vaccine recipients, with an adjusted rVE of 9.8% (95% confidence interval: 2.6-16.4%) and 5.1% (95% CI: 3.2-6.9%), respectively, for mRNA-1273.222 versus BNT162b2 Bivalent. The incremental relative effectiveness was greater among adults ≥ 65; the rVE against COVID-19-related hospitalizations and outpatient visits in these patients was 13.5% (95% CI: 5.5-20.8%) and 10.7% (8.2-13.1%), respectively. Overall, we found greater effectiveness of mRNA-1273.222 compared with the BNT162b2 Bivalent vaccine in preventing COVID-19-related hospitalizations and outpatient visits, with increased benefits in older adults.

The Impact of Adjuvanted Influenza Vaccine on Disease Severity in the US: A Stochastic Model.

Influenza can exacerbate underlying medical conditions. In this study, we modelled the potential impact of an egg-based quadrivalent influenza vaccine (QIVe) or adjuvanted QIV (aQIV) on hospitalizations and mortality from influenza-related cardiovascular disease (CVD), respiratory, and other complications in adults ≥65 years of age in the US with underlying chronic conditions. We used a stochastic decision-tree model, with 1000 simulations varying input across predicted ranges. Due to the variable nature of influenza across seasons and differences in published estimates for input parameters, data are presented as 95% confidence intervals. Compared with no vaccination, use of aQIV would prevent 135,450-564,360 hospitalizations and 1612-29,226 deaths across outcomes evaluated. Overall, aQIV prevented 1071-18,388 more hospitalizations and 85-1944 more deaths than QIVe. By routine seasonal vaccination against influenza, a substantial number of severe influenza-associated complications and deaths, caused by direct influenza symptoms or by exacerbation of chronic conditions, can be prevented in high-risk adults ≥65 years of age in the US.

Vaccine Effectiveness of Cell-Based Quadrivalent Influenza Vaccine in Children: A Narrative Review.

Cell-based manufacturing of seasonal influenza vaccines eliminates the risk of egg-adaptation of candidate vaccine viruses, potentially increasing vaccine effectiveness (VE). We present an overview of published data reporting the VE and cost-effectiveness of a cell-based quadrivalent influenza vaccine (QIVc) in preventing influenza-related outcomes in the pediatric population. We identified 16 clinical studies that included data on the VE of a QIVc or the relative VE (rVE) of a QIVc versus an egg-based QIV (QIVe) in children and/or adolescents, 11 of which presented estimates specifically for the pediatric age group. Of these, two studies reported rVE against hospitalizations. Point estimates of rVE varied from 2.1% to 33.0%, with studies reporting significant benefits of using a QIVc against influenza-related, pneumonia, asthma, and all-cause hospitalization. Four studies reported rVE against influenza-related medical encounters, with point estimates against non-strain specific encounters ranging from 3.9% to 18.8% across seasons. One study evaluated rVE against any influenza, with variable results by strain. The other four studies presented VE data against laboratory-confirmed influenza. Three health economics studies focusing on a pediatric population also found the use of QIVc to be cost-effective or cost-saving. Overall, using a QIVc is effective in pediatric patients, with evidence of incremental benefits over using a QIVe in preventing hospitalizations and influenza-related medical encounters in nearly all published studies.

Novel mutations in the SGCA gene in unrelated Vietnamese patients with limb-girdle muscular dystrophies disease.

Background: Limb-girdle muscular dystrophy (LGMD) is a group of inherited neuromuscular disorders characterized by atrophy and weakness in the shoulders and hips. Over 30 subtypes have been described in five dominant (LGMD type 1 or LGMDD) and 27 recessive (LGMD type 2 or LGMDR). Each subtype involves a mutation in a single gene and has high heterogeneity in age of onset, expression, progression, and prognosis. In addition, the lack of understanding of the disease and the vague, nonspecific symptoms of LGMD subtypes make diagnosis difficult. Even as next-generation sequencing (NGS) genetic testing has become commonplace, some patients remain undiagnosed for many years. Methods: To identify LGMD-associated mutations, Targeted sequencing was performed in the patients and Sanger sequencing was performed in patients and family members. The in silico analysis tools such as Fathmm, M-CAP, Mutation Taster, PolyPhen 2, PROVEAN, REVEL, SIFT, MaxEntScan, Spliceailookup, Human Splicing Finder, NetGene2, and Fruitfly were used to predict the influence of the novel mutations. The pathogenicity of the mutation was interpreted according to the ACMG guidelines. Results: In this study, six patients from four different Vietnamese families were collected for genetic analysis at The Center for Gene and Protein Research and The Department of Molecular Pathology Faculty of Medical Technology, Hanoi Medical University, Hanoi, Vietnam. Based on clinical symptoms and serum creatine kinase (CK) levels, the patients were diagnosed with limb-girdle muscular dystrophies. Five mutations, including four (c.229C>T, p.Arg77Cys; exon one to three deletion; c.983 + 5G>C; and c.257_258insTGGCT, p.Phe88Leufs*125) in the SGCA gene and one (c.946-4_946-1delACAG) in the CAPN3 gene, were detected in six LGMD patients from four unrelated Vietnamese families. Two homozygous mutations (c.983 + 5G>C and c.257_258insTGGCT) in the SGCA gene were novel. These mutations were identified as the cause of the disease in the patients. Conclusion: Our results contribute to the general understanding of the etiology of the disease and provide the basis for definitive diagnosis and support genetic counseling and prenatal screening.

Contributions of cost-effectiveness analyses (CEA) to influenza vaccination policy for older adults in Europe.

This review describes the importance of economic evaluations and real-world evidence (RWE) for the assessment of enhanced influenza vaccines for older adults in Europe. Individuals ≥65 years of age are at increased risk of severe influenza outcomes and many countries in Europe recommend enhanced vaccines for this population to mitigate immunosenescence. Some National Immunization Technical Advisory Groups (NITAGs) may preferentially recommend a specific enhanced vaccine, necessitating comparative economic evaluation and estimation of relative vaccine effectiveness between enhanced vaccine options in the absence of direct head-to-head efficacy data. Distinct approaches to economic modeling and cost-effectiveness analysis (CEA) guide national vaccination policies in Europe, including how underlying data, such as RWE, are used in these models. RWE is an important evidence source for input into CEA models based on disease factors (e.g., antigenic shift and seasonal variation) and practical factors (e.g., limitations of performing multiple randomized clinical trials to capture seasonal variation; the need to obtain relevant patient-oriented, real-world endpoints, such as hospitalizations). CEA is considered crucial to vaccine assessment among certain countries in Europe, but further harmonization of economic evaluations, including the use of RWE, across NITAGs in Europe may be of benefit, alongside standardized approaches for vaccine appraisal. In the future, more countries may use RWE as an input in CEA models to support NITAG recommendations for enhanced influenza vaccines in older populations, especially considering the value of RWE for the assessment of influenza epidemiology and vaccine effectiveness as stated by the World Health Organization, and the availability of a broad RWE base for certain enhanced vaccines.

Real-World Evidence in Cost-Effectiveness Analysis of Enhanced Influenza Vaccines in Adults ≥ 65 Years of Age: Literature Review and Expert Opinion.

Influenza vaccination can benefit most populations, including adults ≥ 65 years of age, who are at greater risk of influenza-related complications. In many countries, enhanced vaccines, such as adjuvanted, high-dose, and recombinant trivalent/quadrivalent influenza vaccines (aTIV/aQIV, HD-TIV/HD-QIV, and QIVr, respectively), are recommended in older populations to provide higher immunogenicity and increased relative vaccine efficacy/effectiveness (rVE) than standard-dose vaccines. This review explores how efficacy and effectiveness data from randomized controlled trials and real-world evidence (RWE) are used in economic evaluations. Findings from published cost-effectiveness analyses (CEA) on enhanced influenza vaccines for older adults are summarized, and the assumptions and approaches used in these CEA are assessed alongside discussion of the importance of RWE in CEA. Results from many CEA showed that adjuvanted and high-dose enhanced vaccines were cost-effective compared with standard vaccines, and that differences in rVE estimates and acquisition price may drive differences in cost-effectiveness estimates between enhanced vaccines. Overall, RWE and CEA provide clinical and economic rationale for enhanced vaccine use in people ≥ 65 years of age, an at-risk population with substantial burden of disease. Countries that consider RWE when making vaccine recommendations have preferentially recommended aTIV/aQIV, as well as HD-TIV/HD-QIV and QIVr, to protect older individuals.

Cost-Effectiveness of the Use of Adjuvanted Quadrivalent Seasonal Influenza Vaccine in Older Adults in Ireland.

BACKGROUND: Enhanced vaccines (e.g., containing adjuvants) have shown increased immunogenicity and effectiveness in older adults, who often respond sub-optimally to conventional influenza vaccines. In this study, we evaluated the cost-effectiveness of an inactivated, seasonal, MF59-adjuvanted quadrivalent influenza vaccine (aQIV) for use in adults ≥ 65 years in Ireland. METHODS: A published dynamic influenza model incorporating social contact, population immunity, and epidemiological data was used to assess the cost-effectiveness of aQIV in adults ≥ 65 years of age compared with a non-adjuvanted QIV. Sensitivity analysis was performed for influenza incidence, relative vaccine effectiveness, excess mortality, and the impact on bed occupancy from co-circulating influenza and COVID-19. RESULTS: The use of aQIV resulted in discounted incremental cost-effectiveness ratios (ICERs) of EUR 2420/quality-adjusted life years (QALYs) and EUR 12,970/QALY from societal and payer perspectives, respectively, both of which are below the cost-effectiveness threshold of EUR 45,000/QALY. Sensitivity analysis showed that aQIV was effective in most scenarios, except when relative vaccine effectiveness compared to QIV was below 3%, and resulted in a modest reduction in excess bed occupancy. CONCLUSION: The use of aQIV for adults ≥ 65 years old in Ireland was shown to be highly cost-effective from both payer and societal perspectives.

Estimating the impact of influenza vaccination of low-risk 50-64-year-olds on acute and ICU hospital bed usage in an influenza season under endemic COVID-19 in the UK.

Co-circulation of influenza and SARS-CoV-2 has the potential to place considerable strain on health-care services. We estimate the cost-effectiveness and health-care resource utilization impacts of influenza vaccination of low-risk 50-64-y-olds in the United Kingdom (UK) against a background SARS-CoV-2 circulation. A dynamic susceptible-exposed-infected-recovered model was used to simulate influenza transmission, with varying rates of vaccine coverage in the low-risk 50-64 y age-group. Four scenarios were evaluated: no vaccination (baseline), 40%, 50%, and 60% coverage. For the 50% and 60% coverage, this rate was also applied to high-risk 50-64-y-olds, whereas 48.6% was used for the baseline and 40% coverage scenarios. Cost-effectiveness was estimated in terms of humanistic outcomes and incremental cost-effectiveness ratio (ICER), with discounting applied at 3%. Overall, influenza vaccination of 50-64-y-olds resulted in reductions in GP visits, hospitalizations, and deaths, with a reduction in influenza-related mortality of 34%, 41%, and 52% for 40%, 50%, and 60% coverage, respectively. All four scenarios resulted in acute and intensive care unit (ICU) bed occupancy levels above available capacity, although vaccination of low-risk 50-64-y-olds resulted in a 35-54% and 16-25% decrease in excess acute and ICU bed requirements, respectively. Vaccination of this group against influenza was highly cost-effective from the payer perspective, with ICERs of £2,200-£2,343/quality-adjusted life year across the coverage rates evaluated. In conclusion, in the UK, vaccination of low-risk 50-64-y-olds against influenza is cost-effective and can aid in alleviating bed shortages in a situation where influenza and SARS-CoV-2 are co-circulating.

Targeted next-generation sequencing determined a novel SGCG variant that is associated with limb-girdle muscular dystrophy type 2C: A case report.

Limb-girdle muscular dystrophy-type 2C (LGMD2C) is caused by mutations in the SGCG gene. Here, we report a case of a 26-year-old male who had inactive walking due to proximal muscle weakness. Targeted next-generation sequencing found a novel variant c.412C > T (Q138*) in the SGCG gene.

Pediatric Oral Neurovascular Hamartoma of the Hard Palate: A Clinicopathologic Report.

We hereby present the first-reported pediatric case of a hard palate neurovascular hamartoma in a male newborn, in which the diagnosis was established following an initial nondiagnostic biopsy, extensive radiological investigations, and eventual wide local excision. These benign lesions can easily be mistaken for malignant diagnoses, leading to increased parental and child anxiety as well as avoidable diagnostic and therapeutic interventions.