Microstructural Dynamics of the Myocardium: Orientation of the Muscle Fibers and Occurrence of Cardiomyopathies

This paper considers the Holzapfel–Ogden (HO) model to examine the behavior of the left ventricle myocardium. At the tissue level, we analyze the contributions of the orientation angle of muscle fibers (MFs) and investigate their effects on the occurrence of certain cardiomyopathies and congenital diseases at the organ level. Knowing the importance of myocardial microstructure on cardiac function, we vary the angle between the direction of collagen sheets and MFs in all layers of the myocardium (from epicardium to endocardium) to model the effects of tilted MFs. Based on the HO model in which the directions of the fibers are orthogonal and using the strain energy of HO, we construct a tensile-compression test and simulate the dynamics of a cubic sample. We recover the authors’ results exhibiting the existence of residual stresses in various directions. Then, we modify the energy of HO slightly to assess the impact of the same stress states on the system with tilted MFs. A numerical tensile-compression test performed on this new cubic sample shows that, in certain directions, the heart tissue is more resistant to shear deformations in some planes than in others. Moreover, it appears that the residual stress is smaller as the angle of orientation of the MFs is small. Furthermore, we observe that the residual stress is greater in the new model compared to the normal HO model. This could affect the heart muscle at the organ level leading to hypertrophied/dilated cardiomyopathy.

Radiology of Anomalies of Pulmonary Veins

A study of 43 cases of suspected congenital diseases of heart was performed in Sahyadri Hospital, Pune, over a period of 5 to 6 years with dual source computed tomography (CT) in adolescents as well as children. Only the images of anomalies of pulmonary veins are presented.Compared with different radiological techniques, CT offers many advantages, as it can be undertaken even in neonates, yields more information than MR in a very little time, is better than 2D echo, when there is a small inter-costal window in some infants and is noninvasive. This study proved useful for further medical/surgical management.

LONG-TERM AMBULATORY ECG MONITORING AN ESSENTIAL DIAGNOSTIC TOOL FOR CURRENT TIMES

Ambulatory ECG (AECG) monitoring with diary correlation of symptoms has been proven to provide significant diagnostic, therapeutic and prognostic benefit with an arrhythmic cause of symptoms. Arrhythmias can range from premature atrial and ventricular complexes (APCs/ PVCs usually benign), to Atrial and Ventricular Fibrillation which causes significant morbidity and mortality. Symptoms such as palpitations, shortness of breath, chest pain and syncope are common during arrhythmias and their frequency determines the choice of investigation needed to diagnose the arrythmia. Arrhythmias can be a manifestation of many cardiac and non-cardiac diseases. These also include congenital diseases and are often missed due to inadequate monitoring. Since most arrhythmias are intermittent they are more likely to be detected during extended ECG monitoring. Other uses of ambulatory ECG devices include ST segment analysis, heart rate variability, signal averaged ECGs, diurnal QT and QTc analysis (including patients with long QT) (1) obstructive sleep apnea and vectorcardiography (2). These factors have been shown to have relation to significant cardiovascular diseases aiding the diagnosis of various arrhythmias. Syncope although mostly benign, could potentially be a consequence of a life-threatening arrhythmia in up to 20% patients(3). Nonetheless syncope poses a significant cause of disturbance in a patients’ life and definitive diagnosis is necessary to ensure patients well-being. ESC Guidelines on Syncope (2018) recommend further testing with AECG via Holter monitoring, wearable patch recorder, external and internal loop recorders etc. depending on the frequency after initial examination is negative for a definite cause. Atrial Fibrillation (AF) increases risk of stroke more than five times. Atrial Fibrillation diagnosed after stroke is an important hallmark of recurrent stroke risk. (7) Many studies have demonstrated post stroke AECG increases the chances of detecting AF (15% vs 5%) when compared to standard monitoring. An increase incidence in atrial arrythmias (atrial high rate episodes AHRE) has been seen in patients with Permanent Pacemakers which should be documented by AECG to be treated accordingly.(4). Uses can be prognostic if rate was to be monitored in AF to assess efficacy of rate control treatment and offer adequate anticoagulation according to the 2020 ESC atrial fibrillation guidelines. (8) Some limitations of twenty-four hours Holter monitoring have recently been overcome by improvements in hardware and software technology including adhesive patches and wireless telemetry. Newer adhesive patches are softer, waterproof and electrode free monitors which offer unprecedented mobility and ease of carrying out daily routine by the patient. They operate as either recorders or wireless streaming devices (5). These devices were safe and effective during the pandemic even when delivered home through mail to critically ill patients.(6) The advent of smart phones has added endless potential for recording through wireless Bluetooth transmission. Smart devices like the OMSHIRTtm have the added advantage of being comfortable to wear. Newer devices for example Cardiostat has been shown to offer equal quality tracings when compared to standard Holter monitoring, often up to the 99% sensitivity and specificity through better designed R wave (QRS) detection algorithms(7) (8)Studies have shown these newer devices to be easily operable and can even be mailed to patients homes for self-attachment with an equal efficacy to hospital applied machine (6). Many studies have shown a preference over intra cardiac monitors (ICM) due to these above mentioned advantages (9). The effectiveness of even longer recordings through Implantable Loop Recorder has also been satisfactory when following patients after Ablation therapy leading to practice updating guideline changes in rhythm management(10). A recent review article summarized that although physicians in the US had knowledge of how and when to offer monitoring devices based on the frequency of symptoms, they were often seen prescribing Holter monitoring due to familiarity. Data also showed that in case the initial investigation was inconclusive, the physician would still repeat the same investigation(3). In a country like Pakistan where there are limited resources, diagnosis and management of arrythmias still has a long way to go. This article sheds light on the need of utilizing the recommended available devices.

Pulmonary manifestations in a cohort of patients with inborn errors of immunity: an 8-year follow-up study

Background: Inborn errors of immunity (IEIs) are a group of congenital diseases caused by genetic defects in the development and function of the immune system. The involvement of the respiratory tract is one of the most common presentations in IEIs.Methods: Overall, 117 patients with diagnosed IEIs were followed-up within 8 years at the National Research Institute of Tuberculosis and Lung Diseases (NRITLD). Demographic, clinical, and laboratory data were collected in a questionnaire. Pulmonary function test (PFT), chest X-ray (CXR), and high-resolution computed tomography (HRCT) scans were obtained where applicable.Results: Our study population consisted of 48 (41%) patients with predominantly antibody deficiencies (PADs), 39 (32%) patients with congenital defects of phagocytes, 14 (11.9%) patients with combined immunodeficiency (CID), and 16 (14%) patients with Mendelian susceptibility to mycobacterial diseases (MSMD). . Recurrent pneumonia was the most common manifestation, while productive cough appeared to be the most common symptom in almost all diseases. PFT showed an obstructive pattern in patients with PAD, a restrictive pattern in patients with CID, and a mixed pattern in patients with CGD. HRCT findings were consistent with bronchiectasis in most PAD patients, whereas consolidation and mediastinal lesions were more common in the other groups.Conclusions: Pulmonary manifestations vary among different groups of IEIs. The screening for lung complications should be performed regularly to reveal respiratory pathologies in early stages and follow-up on already existing abnormalities.

Investigation of the possible effectiveness of osteopathic correction in the complex treatment of children in the first year of life with hip dysplasia

Introduction. Congenital dysplasia of the hip joints is one of the main among congenital diseases of the musculoskeletal system in children and requires a long period of treatment, including in a hospital settings. Standard methods of treatment contain the orthopedic and rehabilitation measures: the use of abduction splints, a complex of physiotherapy exercises, general massage, the use of various physiotherapeutic procedures. Osteopathic correction is not included in the standards of care for this category of patients. At the same time, these standard treatment methods do not always give a desired result, and sometimes even lead to the development of complications. All this facts determines the need to search for additional therapeutic techniques.The aim of the study is to research the possible effectiveness of osteopathic correction as part of the complex treatment of children in the first year of life with hip dysplasia.Materials and methods. The study included 34 children with a diagnosis of hip dysplasia (ICD code-10 — Q65.8). The patients were randomly divided into 2 equivalent groups: study and control. Participants in both groups received standard treatment; the participants of the main group additionally underwent osteopathic correction of the revealed somatic dysfunctions. Before and after the course of treatment, the patients' osteopathic status, the disease clinical manifestations, and the X-ray data of the hip joints were assessed.Results. The inclusion of osteopathic correction in the complex with standard treatment procedures for children of the first year of life with hip dysplasia is accompanied by a statistically significant decrease in the detection frequency of the somatic dysfunctions at the regional and local levels. The median duration of standard orthopedic treatment also decreases (p<0,05).Conclusion. The obtained results demonstrate that the inclusion of osteopathic correction in the complex treatment of children in the first year of life with hip dysplasia shortens the treatment time for patients. It is recommended to continue research in this direction with a larger sample size.

Comparison of Intramedullary Magnetic Nail, Monolateral External Distractor, and Spatial External Fixator in Femur Lengthening in Adolescents with Congenital Diseases

The aim of this study is to evaluate the course of the treatment and clinical and functional outcomes of femur lengthening in adolescents with congenital disorders by the application of different surgical methods. This retrospective study comprised 35 patients (39 procedures). A total of 11 patients underwent femur lengthening with the use of the intramedullary magnetic nail (IMN) Precise 2 (NuVasive, San Diego, CA, USA), 7 patients (11 procedures) with the use of the monolateral external distractor Modular Rail System (MRS) (Smith and Nephew, Memphis, TN, USA), and 17 with the use of the computer-assisted external fixator Taylor Spatial Frame (TSF) (Smith and Nephew, Memphis, TN, USA). The inclusion criteria were as follows: (1) congenital femoral length deficiency without any axial deformities and (2), independently of the finally applied treatment, the technical possibility of use of each of the analyzed methods. The distraction index did not differ significantly between the groups (p = 0.89). The median lengthening index was the lowest in the IMN group (24.3 d/cm; IQR 21.8–33.1) and statistically different in comparison to the MRS (44.2 d/cm; IQR 42–50.9; p < 0.001) and the TSF groups (48.4 d/cm; IQR 38.6–63.5; p < 0.001). Similarly, the consolidation index in the IMN group (12.9 d/cm; IQR 10.7–21.3) was statistically lower than that in the MRS (32.9 d/cm; IQR 30.2–37.6; p < 0.001) and the TSF (36.9 d/cm; IQR 26.6–51.5; p < 0.001) groups. This study indicates that IMN is a more valuable method of treatment for femoral length discrepancy without axial deformity than MRS and TSF in complication rate and indexes of lengthening and consolidation.

Comparative assessment of risk of development of purulent septic infections in children after open and closed cardiac operations for congenital diseases

Purpose of the study. Comparative assessment of the incidence of nosocomial purulent-septic infections (PSI) in children after open and closed heart surgery for congenital defects.Materials and methods. 503 medical records of children after cardiac surgery were studied. GSI was identified according to epidemiological standard case definitions.Results. It turned out that the incidence rate of PSI in children after open heart surgery is an order of magnitude higher than after minimally invasive endovascular interventions. Hospital-acquired pneumonia most often occurs in children after operations.Conclusion. The increased incidence of PSI after open heart surgery, as compared to endovascular surgery, is due to a longer surgical intervention and the subsequent longer stay of patients in the intensive care unit, where such an epidemiologically significant procedure as artificial lung ventilation is performed.

The Association of Falls Risk in Older Adults and Their Living Environment: A Case Study of Rural Area, Thailand

Falls in older adults have become a serious problem and a major cause of home injuries and even deaths. The increasing number of older people that will enter the “older adults” category in a few years’ time calls for an effective plan to mitigate the risk factors to falling. This article reported on our study of the relationship between living environment hazards and fall risk in older adults to reduce and prevent the risk of falling using a specific case of a rural area in Thailand. A site investigation together with a questionnaire survey were conducted in a total of 950 homes of older people who were interviewed in conjunction with authorities from Banphaeo district of Samutsakorn Province, Thailand. Using a multinomial logistic regression model, this research found the following risk of falls based on the categorizations of the calculated risk factors among socio-economic characteristics (sex, age, marital status, income), health status (congenital diseases), and living environment characteristics (toilet availability in bedroom). The analysis identified a multifactorial relationship involving intrinsic and extrinsic factors that determined fall risk among older adults. Based on the findings of the research, risk factors associated with socioeconomic determinants in term of poverty were found as a key barrier in promoting the health and well-being of older adults. We recommend interventions for fall prevention and fall risk-reduction strategies through improvement of the physical environment in the homes of older adults as a proactive measure to lessen the causes of home injuries from falls.

Regulation of Hedgehog Signal Transduction by Ubiquitination and Deubiquitination

The Hedgehog (Hh) family of secreted proteins governs embryonic development and adult tissue homeostasis in species ranging from insects to mammals. Deregulation of Hh pathway activity has been implicated in a wide range of human disorders, including congenital diseases and cancer. Hh exerts its biological influence through a conserved signaling pathway. Binding of Hh to its receptor Patched (Ptc), a twelve-span transmembrane protein, leads to activation of an atypical GPCR family protein and Hh signal transducer Smoothened (Smo), which then signals downstream to activate the latent Cubitus interruptus (Ci)/Gli family of transcription factors. Hh signal transduction is regulated by ubiquitination and deubiquitination at multiple steps along the pathway including regulation of Ptc, Smo and Ci/Gli proteins. Here we review the effect of ubiquitination and deubiquitination on the function of individual Hh pathway components, the E3 ubiquitin ligases and deubiquitinases involved, how ubiquitination and deubiquitination are regulated, and whether the underlying mechanisms are conserved from Drosophila to mammals.