Approaches to patients with variants in RAG genes: from diagnosis to timely treatment

2019 ◽  
Vol 15 (10) ◽  
pp. 1033-1046 ◽  
Author(s):  
Adeeb A. Bulkhi ◽  
Joseph F. Dasso ◽  
Catharina Schuetz ◽  
Jolan E. Walter
Keyword(s):  
Author(s):  
R. A. Yakupov ◽  
G. I. Safiullina ◽  
A. A. Safiullina ◽  
E. R. Burganov

Introduction. Modern sports places high demands on the functional systems of the body at all stages of the training and competitive processes. High loads create signifi cant background for the occurrence of musculoskeletal diseases, among which the myofascial syndrome (MFS) holds the leading position. MFS negatively affects the functional readiness of the sportsman′s body and is a risk factor for injuries of the musculoskeletal system. In this regard, timely treatment of MFS is important. It creates the conditions for the improvement of sports achievements, for health maintenance and sports longevity. Treatment of patients with MFS should include methods that normalize trophism and muscle tone. Given the problem of doping, the use of non-drug methods, including osteopathy, is preferable. The goal of research — to develop a system of monitoring and osteopathic correction of myofascial disorders (MFD) and to introduce it into the practice of medical and biological support for sportsmen of different categories and levels during the annual training process.Materials and methods. 93 sportsmen (45 women and 48 men), mean age 22,1±1,1 years, representing diffe rent sports were examined. The essence of the proposed system is regular clinical and electroneurophysiological monitoring of the body condition and preventive correction of myofascial disorders in order to exclude their infl uence on the success of sports activities.Results. It was established that the proposed system of monitoring and osteopathic correction led to a signifi cant reduction in clinical and electroneurophysiological manifestations both in local and in extensive forms of myofascial disorders, which allowed to maintain the optimal functional readiness of sportsmen throughout the entire annual training cycle.Conclusion. The system of monitoring and correction of MFS with the use of osteopathic treatment can be one of the elements of medical and biological support for sportsmen during the annual training process.


Author(s):  
Jia Hua-Ping ◽  
Zhao Jun-Long ◽  
Liu Jun

Cardiovascular disease is one of the major diseases that threaten the human health. But the existing electrocardiograph (ECG) monitoring system has many limitations in practical application. In order to monitor ECG in real time, a portable ECG monitoring system based on the Android platform is developed to meet the needs of the public. The system uses BMD101 ECG chip to collect and process ECG signals in the Android system, where data storage and waveform display of ECG data can be realized. The Bluetooth HC-07 module is used for ECG data transmission. The abnormal ECG can be judged by P wave, QRS bandwidth, and RR interval. If abnormal ECG is found, an early warning mechanism will be activated to locate the user’s location in real time and send preset short messages, so that the user can get timely treatment, avoiding dangerous occurrence. The monitoring system is convenient and portable, which brings great convenie to the life of ordinary cardiovascular users.


2019 ◽  
Vol 24 (2) ◽  
pp. 161-166 ◽  
Author(s):  
О. A. Uspenskaya ◽  
S. A. Spiridonova

Relevance. One of the causes of chronic disease is herpetic infection, lifelong persistence in the human body and activates the macrophage protection system, which leads to disruption of iron utilization by the cells of the hematopoietic system and the development of anemia of chronic disease. To prove the influence of herpesvirus infection on the occurrence of anemia of chronic disease.Materials and methods. The study involved 75 people suffering from herpes-viral infection. 3 groups were allocated: the frst group (25 people) received acyclovir 1 tablet (200 mg) 5 times a day, 5 days; The 2-nd group (25 people) used famvir for 1 tablet (250 mg) 2 times a day, 5 days; The third group (25 people) – famvir 1 tablet (250 mg) 2 times a day, 5 days and kagocel 2 tablets (12 mg) 3 times a day, 5 days.Result. All subjects examined at the time of treatment showed an increase in the content of IL 1β mRNK and TNF-α and a decrease in mRNK of IL 8 and IL 10; on day 14 of the study, a decrease in IL 1β mRNK and TNF-α mRNK and an increase in IL 10 mRNK. In the study of erythrocyte indices – the average volume of erythrocytes and the average hemoglobin content in erythrocyte and the parameters of iron-serum iron metabolism and the total iron binding capacity of the serum, slight deviations from the norm were obtained.Conclusions. Thus, we concluded that the cause of anemia, in addition to the lack of iron, can be chronic herpesvirus infection, and thus timely treatment of a viral infection excludes the use of ferrotherapy.


2020 ◽  
Vol 14 ◽  
Author(s):  
Charu Bhardwaj ◽  
Shruti Jain ◽  
Meenakshi Sood

: Diabetic Retinopathy is the leading cause of vision impairment and its early stage diagnosis relies on regular monitoring and timely treatment for anomalies exhibiting subtle distinction among different severity grades. The existing Diabetic Retinopathy (DR) detection approaches are subjective, laborious and time consuming which can only be carried out by skilled professionals. All the patents related to DR detection and diagnoses applicable for our research problem were revised by the authors. The major limitation in classification of severities lies in poor discrimination between actual lesions, background noise and other anatomical structures. A robust and computationally efficient Two-Tier DR (2TDR) grading system is proposed in this paper to categorize various DR severities (mild, moderate and severe) present in retinal fundus images. In the proposed 2TDR grading system, input fundus image is subjected to background segmentation and the foreground fundus image is used for anomaly identification followed by GLCM feature extraction forming an image feature set. The novelty of our model lies in the exhaustive statistical analysis of extracted feature set to obtain optimal reduced image feature set employed further for classification. Classification outcomes are obtained for both extracted as well as reduced feature set to validate the significance of statistical analysis in severity classification and grading. For single tier classification stage, the proposed system achieves an overall accuracy of 100% by k- Nearest Neighbour (kNN) and Artificial Neural Network (ANN) classifier. In second tier classification stage an overall accuracy of 95.3% with kNN and 98.0% with ANN is achieved for all stages utilizing optimal reduced feature set. 2TDR system demonstrates overall improvement in classification performance by 2% and 6% for kNN and ANN respectively after feature set reduction, and also outperforms the accuracy obtained by other state of the art methods when applied to the MESSIDOR dataset. This application oriented work aids in accurate DR classification for effective diagnosis and timely treatment of severe retinal ailment.


2021 ◽  
pp. 105477382199968
Author(s):  
Anas Alsharawneh

Sepsis and neutropenia are considered the primary life-threatening complications of cancer treatment and are the leading cause of hospitalization and death. The objective was to study whether patients with neutropenia, sepsis, and septic shock were identified appropriately at triage and receive timely treatment within the emergency setting. Also, we investigated the effect of undertriage on key treatment outcomes. We conducted a retrospective analysis of all accessible records of admitted adult cancer patients with febrile neutropenia, sepsis, and septic shock. Our results identified that the majority of patients were inappropriately triaged to less urgent triage categories. Patients’ undertriage significantly prolonged multiple emergency timeliness indicators and extended length of stay within the emergency department and hospital. These effects suggest that triage implementation must be objective, consistent, and accurate because of the several influences of the assigned triage scoring on treatment and health outcomes.


2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Yuanyuan Xu ◽  
Danqun Jin ◽  
Huan Ye ◽  
Youfeng Liang

Abstract Background Community-acquired infections of Pseudomonas aeruginosa (P. aeruginosa) occur very rarely. Case presentation P. aeruginos was detected in cultures of venous blood and peritoneal exudate of a newborn with 58 perforations in the small intestine. Intravenous administration of imipenem cilastratin sodium and emergency abdominal surgery were performed. The patient fully recovered and was discharged 17 days after the operation. Conclusions Mild symptoms of systemic infections in newborns may delay the diagnosis. Early detection and timely treatment are the key to improved prognosis.


2020 ◽  
Vol 7 (1) ◽  
pp. 1869377
Author(s):  
Patcharapim Takizawa ◽  
Pimchanok Hakham ◽  
Chanon Sirikul ◽  
Wiwat Sarapat ◽  
Warith Mongkolnaowarat ◽  
...  

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Lisanne M. A. Janssen ◽  
Kim van den Akker ◽  
Mohamed A. Boussihmad ◽  
Esther de Vries

Abstract Background Patients with predominantly (primary) antibody deficiencies (PADs) commonly develop recurrent respiratory infections which can lead to bronchiectasis, long-term morbidity and increased mortality. Recognizing symptoms and making a diagnosis is vital to enable timely treatment. Studies on disease presentation have mainly been conducted using medical files rather than direct contact with PAD patients. Our study aims to analyze how patients appraised their symptoms and which factors were involved in a decision to seek medical care. Methods 14 PAD-patients (11 women; median 44, range 16-68 years) were analyzed using semi-structured interviews until saturation of key emergent themes was achieved. Results Being always ill featured in all participant stories. Often from childhood onwards periods of illness were felt to be too numerous, too bad, too long-lasting, or antibiotics were always needed to get better. Recurrent or persistent respiratory infections were the main triggers for patients to seek care. All participants developed an extreme fatigue, described as a feeling of physical and mental exhaustion and thus an extreme burden on daily life that was not solved by taking rest. Despite this, participants tended to normalize their symptoms and carry on with usual activities. Non-immunologists, as well as patients, misattributed the presenting signs and symptoms to common, self-limiting illnesses or other ‘innocent’ explanations. Participants in a way understood the long diagnostic delay. They know that the disease is rare and that doctors have to cover a broad medical area. But they were more critical about the way the doctors communicate with them. They feel that doctors often don’t listen very well to their patients. The participants’ symptoms as well as the interpretation of these symptoms by their social environment and doctors had a major emotional impact on the participants and a negative influence on their future perspectives. Conclusions To timely identify PAD, ‘pattern recognition’ should not only focus on the medical ‘red flags’, but also on less differentiating symptoms, such as ‘being always ill’ and ‘worn out’ and the way patients cope with these problems. And, most important, making time to really listen to the patient remains the key.


2004 ◽  
Vol 128 (6) ◽  
pp. 653-662 ◽  
Author(s):  
James G. Caya ◽  
Rashmi Agni ◽  
Joan E. Miller

Abstract Objective.—This review article is designed to thoroughly familiarize all health care professionals with the history, classification, epidemiology, clinical characteristics, differential diagnosis, diagnostic evaluation (including laboratory-based testing), treatment, and prognosis of botulism. It is especially targeted toward clinical laboratorians and includes a detailed enumeration of the important clinical laboratory contributions to the diagnosis, treatment, and monitoring of patients with botulism. Finally, the bioterrorism potential for botulism is discussed, with an emphasis on the clinical laboratory ramifications of this possibility. Data Sources.—Included medical periodicals and textbooks accessioned from computerized and manual medical literature searches. More than 1000 medical works published from the 1800s through 2003 were retrieved and reviewed in this process. Data Synthesis.—Pertinent data are presented in textual and tabular formats, the latter including 6 tables presenting detailed information regarding the clinical parameters, differential diagnosis, diagnostic studies, laboratory testing, and therapeutic approaches to botulism. Conclusions.—Because botulism is such a rare disease, a keen awareness of its manifestations and prompt diagnosis are absolutely crucial for its successful treatment. The bioterrorism potential of botulism adds further urgency to the need for all health care professionals to be familiar with this disease, its proper evaluation, and timely treatment; the need for such urgency clearly includes the clinical laboratory.


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