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Duchenne muscular dystrophy is a devastating neuromuscular disorder characterized by the loss of dystrophin, inevitably leading to cardiomyopathy. Despite publications on prophylaxis and treatment with cardiac medications to mitigate cardiomyopathy progression, gaps remain in the specifics of medication initiation and optimization.
Method:
This document is an expert opinion statement, addressing a critical gap in cardiac care for Duchenne muscular dystrophy. It provides thorough recommendations for the initiation and titration of cardiac medications based on disease progression and patient response. Recommendations are derived from the expertise of the Advance Cardiac Therapies Improving Outcomes Network and are informed by established guidelines from the American Heart Association, American College of Cardiology, and Duchenne Muscular Dystrophy Care Considerations. These expert-derived recommendations aim to navigate the complexities of Duchenne muscular dystrophy-related cardiac care.
Results:
Comprehensive recommendations for initiation, titration, and optimization of critical cardiac medications are provided to address Duchenne muscular dystrophy-associated cardiomyopathy.
Discussion:
The management of Duchenne muscular dystrophy requires a multidisciplinary approach. However, the diversity of healthcare providers involved in Duchenne muscular dystrophy can result in variations in cardiac care, complicating treatment standardization and patient outcomes. The aim of this report is to provide a roadmap for managing Duchenne muscular dystrophy-associated cardiomyopathy, by elucidating timing and dosage nuances crucial for optimal therapeutic efficacy, ultimately improving cardiac outcomes, and improving the quality of life for individuals with Duchenne muscular dystrophy.
Conclusion:
This document seeks to establish a standardized framework for cardiac care in Duchenne muscular dystrophy, aiming to improve cardiac prognosis.
Residual blood specimens provide a sample repository that could be analyzed to estimate and track changes in seroprevalence with fewer resources than household-based surveys. We conducted parallel facility and community-based cross-sectional serological surveys in two districts in India, Kanpur Nagar District, Uttar Pradesh, and Palghar District, Maharashtra, before and after a measles-rubella supplemental immunization activity (MR-SIA) from 2018 to 2019. Anonymized residual specimens from children 9 months to younger than 15 years of age were collected from public and private diagnostic laboratories and public hospitals and tested for IgG antibodies to measles and rubella viruses. Significant increases in seroprevalence were observed following the MR SIA using the facility-based specimens. Younger children whose specimens were tested at a public facility in Kanpur Nagar District had significantly lower rubella seroprevalence prior to the SIA compared to those attending a private hospital, but this difference was not observed following the SIA. Similar increases in rubella seroprevalence were observed in facility-based and community-based serosurveys following the MR SIA, but trends in measles seroprevalence were inconsistent between the two specimen sources. Despite challenges with representativeness and limited metadata, residual specimens can be useful in estimating seroprevalence and assessing trends through facility-based sentinel surveillance.
Fontan baffle punctures and creation of Fontan fenestration for cardiac catheterisation procedures remain challenging especially due to the heavy calcification of prosthetic material and complex anatomy.
Objectives:
We sought to evaluate our experience using radiofrequency current via surgical electrocautery needle for Fontan baffle puncture to facilitate diagnostic, electrophysiology, and interventional procedures.
Methods:
A retrospective chart review of all Fontan patients (pts) who underwent Fontan baffle puncture using radiofrequency energy via surgical electrocautery from three centres were performed from January 2011 to July 2021.
Results:
A total of 19 pts underwent 22 successful Fontan baffle puncture. The median age and weight were 17 (3–36 years) and 55 (14–88) kg, respectively. The procedural indications for Fontan fenestration creation included: diagnostic study (n = 1), atrial septostomy and stenting (n = 1), electrophysiology study and ablation procedures (n = 8), Fontan baffle stenting for Fontan failure including protein-losing enteropathy (n = 7), and occlusion of veno-venous collaterals (n = 2) for cyanosis. The type of Fontan baffles included: extra-cardiac conduits (n = 12), lateral tunnel (n = 5), classic atrio-pulmonary connection (n = 1), and intra-cardiac baffle (n = 1). A Fontan baffle puncture was initially attempted using traditional method in 6 pts and Baylis radiofrequency trans-septal system in 2 pts unsuccessfully. In all pts, Fontan baffle puncture using radiofrequency energy via electrocautery needle was successful. The radiofrequency energy utilised was (10–50 W) and required 1–5 attempts for 2–5 seconds. There were no vascular or neurological complications.
Conclusions:
Radiofrequency current delivery using surgical electrocautery facilitates Fontan baffle puncture in patients with complex and calcified Fontan baffles for diagnostic, interventional, and electrophysiology procedures.
COVID 19 has led to dramatic changes in the lives of people leading to an increase in stress and anxiety. Music intervention is a non-medicated method for relieving anxiety. This current study aims to understand whether music can be effectively used to alleviate anxiety in admitted COVID-19 patients.
Objectives
To study the effect of music on anxiety in patients admitted for COVID-19 in a tertiary care hospital in New Delhi
Methods
34 patients (17 females &17 males) were randomly divided into two groups, a control (N=17) and a music group (N=17). Vitals of all the patients were noted. Patients of the music group were asked to listen to relaxing instrumental for 30 minutes, while patients of the control group were asked to relax for 30 minutes. Vitals of all the patients were noted again. Patients were asked to fill State Trait Anxiety Inventory (STAI) before and after intervention.
Results
The post-intervention mean scores of STAI after the music session were lower in the music group than the control group [95.06 (SD 8.5)) versus 102.37 (SD 10.3)]. The differences in mean values of pre- to post-intervention changes between both groups after music session were statistically significant.
Conclusions
Our findings suggest that listening to music lowers anxiety. As music is non- invasive and free of side-effects we recommend that music intervention service should be used to improve health care quality.
The COVID-19 pandemic has exposed several inequalities worldwide, including the populations' access to healthcare systems and economic differences that impact the access to vaccination, medical resources, and health care services. Scientific research activities were not an exception, such that scientific research was profoundly impacted globally. Research trainees and early career researchers (ECRs) are the life force of scientific discovery around the world, and their work and progress in research was dramatically affected by the COVID-19 pandemic. ECRs are a particularly vulnerable group as they are in a formative stage of their scientific careers, any disruptions during which is going to likely impact their lifelong career trajectory. To understand how COVID-19 impacted lives, career development plans, and research of Developmental Origins of Health and Disease (DOHaD) ECRs, the International DOHaD ECR committee formed a special interest group comprising of ECR representatives of International DOHaD affiliated Societies/Chapters from around the world (Australia and New Zealand, Canada, French Speaking DOHaD, Japan, Latin America, Pakistan and USA). The anecdotal evidence summarized in this brief report, provide an overview of the findings of this special interest group, specifically on the impact of the evolving COVID-19 pandemic on daily research activities and its effects on career development plans of ECRs. We also discuss how our learnings from these shared experiences can strengthen collaborative work for the current and future generation of scientists.
Behavioural modification through increasing nutritional awareness, along with customised dietary changes and education about physical inactivity, for obese snorers and mildly sleep apnoeic patients would help improve their quality of life.
Methods
A one-year prospective interventional study enrolled snorers and/or mild obstructive sleep apnoea sufferers, with 36 patients each in the test group and control group. Nutritional information and tailor-made diet charts were given to the 36 test subjects. The severity of snoring and daytime sleepiness after 6 and 12 months was compared using the Epworth Sleepiness Scale and Thornton Snoring Scale as measures of quality of life.
Results
Subjective scores on both scales showed highly significant improvement (p ≤ 0.001) in the test group. No significant improvement was seen in the control group.
Conclusion
Awareness of basic nutrition and customised diet plans help to achieve behavioural modification in the long term, resulting in a better quality of life.
There is a paucity of evidence about the prevalence and risk factors for symptomatic infection among children. This study aimed to describe the prevalence of symptomatic coronavirus disease 2019 (COVID-19) and its risk factors in children and adolescents aged 0–18 years in Qatar. We conducted a cross-sectional study of all children aged 0–18 years diagnosed with COVID-19 using polymerase chain reaction in Qatar during the period 1st March to 31st July 2020. A generalised linear model with a binomial family and identity link was used to assess the association between selected factors and the prevalence of symptomatic infection. A total of 11 445 children with a median age of 8 years (interquartile range (IQR) 3–13 years) were included in this study. The prevalence of symptomatic COVID-19 was 36.6% (95% confidence interval (CI) 35.7–37.5), and it was similar between children aged <5 years (37.8%), 5–9 years (34.3%) and 10 + years (37.3%). The most frequently reported symptoms among the symptomatic group were fever (73.5%), cough (34.8%), headache (23.2%) and sore throat (23.2%). Fever (82.8%) was more common in symptomatic children aged <5 years, while cough (38.7%) was more prevalent in those aged 10 years or older, compared to other age groups. Variables associated with an increased risk of symptomatic infection were; contact with confirmed cases (RD 0.21; 95% CI 0.20–0.23; P = 0.001), having visited a health care facility (RD 0.54; 95% CI 0.45–0.62; P = 0.001), and children aged under 5 years (RD 0.05; 95% CI 0.02–0.07; P = 0.001) or aged 10 years or older (RD 0.04; 95% CI 0.02–0.06; P = 0.001). A third of the children with COVID-19 were symptomatic with a higher proportion of fever in very young children and a higher proportion of cough in those between 10 and 18 years of age.
Several aspects of the coronavirus disease 2019 (COVID-19) pandemic remain ambiguous, including its transmission, severity, geographic, and racial differences in mortality. These variations merit elaboration of local patterns to inform wider national policies.
Methods:
In a retrospective analysis, data of patients treated at a dedicated COVID hospital with moderate and severe illness during 8 wk of the pandemic were reviewed with attention to mortality in a competing risks framework.
Results:
A total of 1147 patients were hospitalized, and 312 (27.2%) died in hospital. Those who died were older (56.5 vs 47.6 y; P < 0.0001). Of these, 885 (77.2%) had tested positive on reverse transcriptase polymerase chain reaction (RT-PCR), with 219 (24.2%) deaths (incidence rate, 1.9 per 100 person-days). Median time from onset of symptoms to death was 11 days. A competing risks analysis for in-hospital death revealed an adjusted cause-specific hazard ratio of 1.4 for each decade increase in age.
Conclusions:
This retrospective analysis provides broad patterns of disease presentation and mortality. Even COVID test-negative patients will receive treatment at dedicated facilities, and 33% presenting cases may die within the first 72 h, most with comorbid illness. This should be considered while planning distribution of services for effective health-care delivery
The aim of study was to evaluate the pharmacotherapeutic efficacy of NDGA in experimental paradigm of depression i.e. olfactory bulbectomy (OB) specifically targeting kynurenine pathway.
Materials and method
Depression like behaviours was induced in OB mice and evaluated by assessment of various behavioural (olfactory deficit test, forced swim test, splash test, open field test, sucrose preference test), biochemical (catalase, reduced glutathione, SOD, nitrite, MAO-A, MDA, corticosterone), inflammatory cytokines (TNF- α, IL-1β, IL-6, IFN-γ) levels and alterations in delta sleep was recorded using EEG. Kynurenine pathway metabolites were determined in plasma and brain using HPLC method. After 14 days post-surgery, olfactory bulbectomized (OBX) mice were administered nordihydroguaiaretic acid (5 mg/kg, 10 mg/kg and 25 mg/kg) daily i.p.
Results
We have developed a new HPLC method for simultaneous estimation of monoamines and kynurenine pathway metabolites in plasma and brain samples of mice. Chronic treatment with nordihydroguaiaretic acid significantly restored all behavioural, biochemical and neurochemical alterations in OBX mice and increase in quinolinic acid and decrease in kynurenic acid point out the neurodegeneration hypothesis of depression.
Conclusion
Nordihydroguaiaretic acid showed potent neuropharmacotherapeutic effect in OBX mice by virtue of its strong anti-oxidant, anti-inflammatory, anti-stress and by restoring quinolinic acid levels.
Endoscopes provide a magnified view of the middle ear and visualisation of hidden areas. Otoendoscopes facilitate excellent visualisation of the round window niche during cochlear implantation.
Objective
To compare microscopic and endoscopic visualisation of the round window membrane during cochlear implantation in 20 patients.
Methods
Twenty patients who underwent cochlear implantation were included in the study. After maximum exposure of the round window, the accessibility of the round window membrane was graded according to the St Thomas Hospital classification, first by microscope and then by endoscope.
Results
With the use of the endoscope, visualisation of the round window membrane improved in all the patients as compared to the microscope. The electrode array was inserted via a round window or extended round window approach in all but two cases; the latter cases required bony cochleostomy because of unfavourable anatomy.
Conclusion
The main benefit of endoscope-assisted cochlear implantation is improved visibility of the round window region.
Congenital complete tracheal rings are usually associated with pulmonary slings. We report a rare association of congenital complete tracheal rings with hypoplastic left heart variant. A term infant with diagnosis of a mildly hypoplastic mitral valve, unicuspid aortic valve, and moderately hypoplastic aortic arch with severe coarctation underwent a hybrid procedure initially. Upon failing extubation attempts, complete tracheal rings were seen on direct laryngoscopy. The combination of the lesions resulted in a poor outcome. In patients with failure of extubation post-cardiac surgery, a diagnosis of complete tracheal rings should be included in the differential and a direct laryngoscopy should be considered.
Exposure to the endocrine disruptor bisphenol A (BPA) is ubiquitous and associated with health abnormalities that persist in subsequent generations. However, transgenerational effects of BPA on metabolic health are not widely studied. In a maternal C57BL/6J mice (F0) exposure model using BPA doses that are relevant to human exposure levels (10 μg/kg/day, LowerB; 10 mg/kg/day, UpperB), we showed male- and dose-specific effects on pancreatic islets of the first (F1) and second generation (F2) offspring relative to controls (7% corn oil diet; control). In this study, we determined the transgenerational effects (F3) of BPA on metabolic health and pancreatic islets in our model. Adult F3 LowerB and UpperB male offspring had increased body weight relative to Controls, however glucose tolerance was similar in the three groups. F3 LowerB, but not UpperB, males had reduced β-cell mass and smaller islets which was associated with increased glucose-stimulated insulin secretion. Similar to F1 and F2 BPA male offspring, staining for markers of T-cells and macrophages (CD3 and F4/80) was increased in pancreas of F3 LowerB and UpperB male offspring, which was associated with changes in cytokine levels. In contrast to F3 BPA males, LowerB and UpperB female offspring had comparable body weight, glucose tolerance and insulin secretion as Controls. Thus, maternal BPA exposure resulted in fewer metabolic defects in F3 than F1 and F2 offspring, and these were sex- and dose-specific.
To compare combined conventional Freer medialisation and controlled synechiae, performed for middle meatal access (during the initial steps of functional endoscopic sinus surgery) and post-operative middle turbinate medialisation, with basal lamella relaxing incision, the latter of which is a single step for achieving both middle meatal access and post-operative medialisation. The study also compared the effects of controlled synechiae and basal lamella relaxing incision on post-operative olfaction.
Method
A randomised prospective study was performed on 52 nasal cavity sides (32 patients). Only basal lamella relaxing incision was performed in one group, and both conventional medialisation and controlled synechiae were performed in the other. Intra-operative and post-operative photography was used to measure the middle meatal area. A pocket smell test was used to assess olfaction.
Results
There were no significant differences in operative middle meatal access and post-operative medialisation of the middle turbinate. Post-operative olfaction was affected more in the combined conventional medialisation and controlled synechiae group, compared to the basal lamella relaxing incision group, but this finding was not statistically significant.
Conclusion
Basal lamella relaxing incision is an effective single-step technique for achieving adequate middle meatal access and post-operative medialisation, with no significant effect on olfaction.
This study aimed to compare the success rate of type I tympanoplasty in active (wet) and inactive (dry) mucosal chronic otitis media.
Methods:
A prospective study was performed of 35 patients each with dry ear and wet ear undergoing type I tympanoplasty in the Otolaryngology Department, Postgraduate Institute of Medical Education and Research, India. All patients underwent type I tympanoplasty between January 2010 and June 2011 by the post-auricular approach. Samples of the remnant tympanic membrane were sent for histopathological examination.
Results:
After a minimum follow up of one year, the success rate was 88.6 per cent for dry ears and 80 per cent for wet ears. Neither the type (p = 0.526) nor the presence (p = 0.324) of discharge influenced the success rate. Histopathological examination of the tympanic membrane margins was performed for 46 patients: of these, 19 showed evidence of vascularity and 27 did not. There was no significant difference in success rate between groups (p = 0.115).
Conclusion:
The success rate was not influenced by the presence of ear discharge at the time of surgery, and tympanic membrane vascularity did not influence graft uptake.