Spectrum Analysis of Inherited Metabolic Disorders for Expanded Newborn Screening in a Central Chinese Population

Neonatal inherited metabolic disorders (IMDs) are closely associated with early neonatal death and abnormal growth and development. Increasing attention has been paid to IMDs because of their high incidence and diversity. However, there are no reports about the incidence of IMDs in Changsha, China. Therefore, we retrospectively analyzed the screening results of neonates to evaluate the characteristics of IMDs in the area. From January 2016 to December 2020, 300,849 neonates were enrolled for expanded newborn screening by tandem mass spectrometry in the Neonatal Disease Screening Center of the Changsha Hospital for Maternal & Child Health Care. Newborns with mild initial results were recalled for repeated tests; if the second test was still positive, the patient was referred for confirmatory tests. A total of 71 confirmed cases were identified in our study, with an incidence rate of 1:4,237. There were 28 cases of amino acid metabolic disorders, representing 39.44% of the IMDs diagnosed, with an incidence rate of 1:10,745. Twelve newborns were diagnosed with organic acid metabolic disorders, accounting for 16.66% of IMDs, with an incidence rate of 1:25,071. There were 31 cases of fatty acid oxidation disorders, representing 43.05% of IMDs, with an incidence rate of 1:9,705. Overall, 14 types of IMDs were found in Changsha. The most common disorders in the region were primary carnitine deficiency, hyperphenylalaninemia and short-chain acyl-CoA dehydrogenase deficiency. Their incidence rate is respectively 1:13,675, 1:16,714 and 1:42,978. The mutations in PAH, SLC22A5, and ACADS are the leading causes of IMDs in this area. This study demonstrates the importance of utilizing MS/MS in IMD screening for early diagnosis and treatment. This strategy may be used for prenatal genetic counseling to avoid irreversible growth and intellectual development disorders in children.

Determinants of Drug Resistance in B-Cell Non-Hodgkin Lymphomas: The Case of Lymphoplasmacytic Lymphoma/Waldenström Macroglobulinemia

Lymphoplasmacytic lymphoma (LPL) is a rare subtype of B cell-derived non-Hodgkin lymphoma characterized by the abnormal growth of transformed clonal lymphoplasmacytes and plasma cells. This tumor almost always displays the capability of secreting large amounts of monoclonal immunoglobulins (Ig) of the M class (Waldenström Macroglobulinemia, WM). The clinical manifestations of WM/LPL may range from an asymptomatic condition to a lymphoma-type disease or may be dominated by IgM paraprotein-related symptoms. Despite the substantial progresses achieved over the last years in the therapy of LPL/WM, this lymphoma is still almost invariably incurable and exhibits a propensity towards development of refractoriness to therapy. Patients who have progressive disease are often of difficult clinical management and novel effective treatments are eagerly awaited. In this review, we will describe the essential clinical and pathobiological features of LPL/WM. We will also analyze some key aspects about the current knowledge on the mechanisms of drug resistance in this disease, by concisely focusing on conventional drugs, monoclonal antibodies and novel agents, chiefly Bruton’s Tyrosine Kinase (BTK) inhibitors. The implications of molecular lesions as predictors of response or as a warning for the development of therapy resistance will be highlighted.

Deteksi dini faktor resiko kanker payudara pada wanita di wilayah kerja Puskesmas Batoh Banda Aceh

Background: Breast cancer is an abnormal growth of cells that form in breast tissue. In Aceh, breast cancer is the third most non-communicable disease with most breast cancer patients having a period of late treatment. The results of research on women in Lueng Bata District Banda Aceh City in 2015 found data that the majority of respondents had never had regular breast examinations. This can result in breast cancer being detected at an advanced stage where the therapy often cannot make the patient recover and end up in pain and death. To prevent the occurrence of these problems, health promotion is held about breast cancer and breast self-examination (BSE).Objectives: This study aims to increase women's knowledge and understanding of breast cancer and increase awareness for early detection and appropriate treatment.Methods: was carried out for 3 days from 12 to 14 September 2018 to the community in the work area of the Batoh Health Center in Banda Aceh. The method used is filling out questionnaires, lectures accompanied by questions and answers to explain risk factors, early signs of breast cancer, as well as demonstrations of breast self-examination.Results: From the evaluation of the results obtained from the community service activities, among others, is to increase awareness and understanding of the community, especially women about breast cancer and breast self-examination. It is thus expected to continue on a will that is applied in daily behavioral changes to prevent and routinely examine breast cancer in order to prevent complications and improve quality of life.Conclusion: There is an increase in knowledge and understanding of the meaning, risk factors, early signs and symptoms of breast cancer, and how to detect breast cancer early.

Mushroom-Derived Bioactive-Based Nanoemulsion

Cancer is a class of disorders that is characterized by the abnormal growth of cells in an uncontrolled manner. In cancer progression, tumor cells have become highly heterogeneous, and they create a mixed population of cells with different molecular characteristics. The mushroom bioactive compounds have a rich biological activity including immunomodulatory, anticarcinogenic, antiviral, antioxidant, and anti-inflammatory, etc. Besides, conventional anticancer drugs and applied therapy have tremendous challenges and limitations such as poor solubility, narrow therapeutic window, cytotoxicity to normal tissues, etc., which may be the causes of treatment failure in cancer. A previous study reported mushroom bioactive compounds against cancer treatment. The chapter focuses on mushroom-derived bioactive compounds and possible implications in nanotechnology and, further, will be utilized for new advanced nanoemulsion techniques for the promising treatment of cancer.

Management of obesity with integrated Ayurveda and Yoga intervention: A case report

Obesity is the disease of nutritional deficiency which leads to abnormal growth of adipose tissue resulting in an increase in the body weight to the extent of 20% or more of standard weight for the person’s age, sex, and height. Obesity is one side of the double burden of malnutrition, and today more people are obese than underweight. In Ayurveda Obesity is classified under santarpanjanya rogas and ashtaninditiya purusha by Acharya Charaka. Ayurveda attributes concept of Dosha, dhatus and Mala in which any vikriti in any of dhatus, pramanatah or gunatah then it firmly affects both body and mind. Yoga and Ayurveda both spring as a greater part of spiritual and mental aspect of treatment. Considering all these factors this study is carried out to understand cause, cause effect relationship as well as treatment. In this case study patient was treated with Udwarthana, Shodhana and Shamana chikitsa, also advised Ahara (scheduled diet) and Vihara (life style modification) for the management of obesity. This showed a significant change in anthropometric measurement.

Comparative Analysis of Skin Cancer (Benign vs. Malignant) Detection Using Convolutional Neural Networks

We live in a world where people are suffering from many diseases. Cancer is the most threatening of them all. Among all the variants of cancer, skin cancer is spreading rapidly. It happens because of the abnormal growth of skin cells. The increase in ultraviolet radiation on the Earth’s surface is also helping skin cancer spread in every corner of the world. Benign and malignant types are the most common skin cancers people suffer from. People go through expensive and time-consuming treatments to cure skin cancer but yet fail to lower the mortality rate. To reduce the mortality rate, early detection of skin cancer in its incipient phase is helpful. In today’s world, deep learning is being used to detect diseases. The convolutional neural network (CNN) helps to find skin cancer through image classification more accurately. This research contains information about many CNN models and a comparison of their working processes for finding the best results. Pretrained models like VGG16, Support Vector Machine (SVM), ResNet50, and self-built models (sequential) are used to analyze the process of CNN models. These models work differently as there are variations in their layer numbers. Depending on their layers and work processes, some models work better than others. An image dataset of benign and malignant data has been taken from Kaggle. In this dataset, there are 6594 images of benign and malignant skin cancer. Using different approaches, we have gained accurate results for VGG16 (93.18%), SVM (83.48%), ResNet50 (84.39%), Sequential_Model_1 (74.24%), Sequential_Model_2 (77.00%), and Sequential_Model_3 (84.09%). This research compares these outcomes based on the model’s work process. Our comparison includes model layer numbers, working process, and precision. The VGG16 model has given us the highest accuracy of 93.18%.

Folic Acid Protects Melanocytes from Oxidative Stress via Activation of Nrf2 and Inhibition of HMGB1

Vitiligo is a cutaneous depigmentation disease due to loss of epidermal melanocytes. Accumulating evidence has indicated that oxidative stress plays a vital role in vitiligo via directly destructing melanocytes and triggering inflammatory response that ultimately undermines melanocytes. Folic acid (FA), an oxidized form of folate with high bioavailability, exhibits potent antioxidant properties and shows therapeutic potential in multiple oxidative stress-related diseases. However, whether FA safeguards melanocytes from oxidative damages remains unknown. In this study, we first found that FA relieved melanocytes from H2O2-induced abnormal growth and apoptosis. Furthermore, FA enhanced the activity of antioxidative enzymes and remarkably reduced intracellular ROS levels in melanocytes. Subsequently, FA effectively activated nuclear factor E2-related factor 2 (Nrf2) pathway, and Nrf2 knockdown blocked the protective effects of FA on H2O2-treated melanocytes. Additionally, FA inhibited the production of proinflammatory HMGB1 in melanocytes under oxidative stress. Taken together, our findings support the protective effects of FA on human melanocytes against oxidative injury via the activation of Nrf2 and the inhibition of HMGB1, thus indicating FA as a potential therapeutic agent for the treatment of vitiligo.

An Overview of Central Nervous System Tumours

Central nervous system (CNS) tumours refer to tumours that occur in the tissues of the brain and/or spinal cord. These tumours arise as a result of abnormal growth of cells and may begin in different parts of the brain or spinal cord. There are many types of CNS tumours, which are further divided into subtypes. Despite decades of research conducted, CNS tumours remain among the deadliest of all cancers. It is most often challenging to treat these tumours, due to the risks involved, and biological characteristics associated with them. The classification, grading, and characterisation of CNS tumour plays a pivotal role in the management thereof. The current review provides an overview of CNS tumours, classification, grading and treatment, as well as their characterisation with specific focus on gliomas, ependymomas, oligodendrogliomas, meningiomas, medulloblastomas, schwannomas, gangliogliomas, and craniopharyngiomas. Doi: 10.28991/SciMedJ-2021-0304-8 Full Text: PDF

Approach to clinically significant vascular anomalies in children

Vascular anomalies consist of tumours or malformations made up of abnormal growth or collections of blood vessels that can result in functional or cosmetic problems. While many vascular anomalies are present at birth, some do not appear until later in life, making diagnosis more challenging. Although many vascular anomalies are benign, some are associated with serious complications and may involve multiple organ systems. This article highlights the important features of clinically significant vascular anomalies to help physicians promptly identify and refer these cases to a specialised multidisciplinary team for evaluation and management. The discussion includes the various presenting complaints of vascular anomalies in children, namely rapidly growing birthmarks, painful lesions, seizures/neurological manifestations, bleeding diathesis, cardiac/airway abnormalities or part of an overgrowth syndrome.

Effect of annealing temperature and time on recrystallization behavior of Mg-Gd-Y-Zn-Zr alloy

In this paper, the effect of annealing treatment on the microstructure and hardness of extruded Mg-9Gd-4Y-2Zn-0.5Zr alloy (wt. %) was discussed. The microstructure evolution of the alloy under different annealing conditions was studied by optical microscope (OM), scanning electron microscopy (SEM) and electron backscatter diffraction (EBSD), and the variation of hardness was analyzed. With the increase of annealing temperature, the large deformed grains first break into small recrystallized grains. When the temperature continues to increase, the recrystallized grains grow abnormally with the precipitation of chain phase and the fragmentation of lamellar long-period stacking ordered (LPSO) phase. The alloy does not recrystallize at low temperature, and the recrystallized grains grow abnormally at high temperature. The increase of annealing time will also lead to abnormal growth of recrystallized grains. The texture gradually diffuses from the classical extrusion texture to the extrusion direction (ED). The results show that under the condition of 430 °C × 5h, the recrystallization volume of the alloy is the largest, the recrystallization grain distribution is uniform, and the hardness value is the highest.