Early diagnostics of severe combined immunodeficiencies

2014 ◽  
Vol 18 (4 (72)) ◽  
Author(s):  
L. V. Kostiuchenko
Keyword(s):  
Comparison Group ◽  
Clinical Symptoms ◽  
Laboratory Finding ◽  
Severe Combined Immunodeficiency ◽  
Practical Implementation ◽  
Laboratory Markers ◽  
Genetically Determined ◽  
Combined Immunodeficiencies ◽  
Severe Combined Immunodeficiencies ◽  
Functional Deficiency

Severe combined immunodeficiency is a big group of genetically determined immunological defects with a profound quantitative and/or functional deficiency of T- and B-cells, and sometimes NK-cells. The article contains our own experience of observation of patients with severe combined immunodeficiencies to establish early clinical and laboratory markers of SCID. A clinical, genealogical and laboratory analysis of 22 SCID patients and a comparison group was performed, the most common symptoms of this kind of PID and the time of their appearance were identified. It was found that the SCID patients do not have specific sings up to the manifestation of clinical symptoms of infections, and as early signs of the disease can be considered an eventful family history with children deaths at early age and lymphopenia below 3.0 х109 / l in 77,3 % of patients that can be used as screening laboratory finding in our country. An algorithm for diagnosis of SCID was proposed and the feasibility of practical implementation of neonatal screening for this disease was discussed.

scholarly journals A súlyos kombinált immundefektusok újszülöttkori szűrővizsgálata

2018 ◽  
Vol 159 (23) ◽  
pp. 948-956
Author(s):  
Melinda Erdős
Keyword(s):  
Immune Deficiency ◽  
Newborn Screening ◽  
Screening Program ◽  
Severe Combined Immunodeficiency ◽  
The United States ◽  
Combined Immunodeficiency ◽  
Newborn Screening Program ◽  
Negative Family History ◽  
Combined Immunodeficiencies ◽  
Severe Combined Immunodeficiencies

Abstract: Severe combined immunodeficiency is the first immune deficiency disorder which was included in the newborn screening program in the United States in 2010. In Hungary, newborn screening for severe combined immunodeficiencies is crucial because of the routine BCG vaccination, as in the case of an affected newborn with negative family history, the vaccine may lead to fatal BCG-itis. This paper analyzes the possibilities of introducing newborn screening for severe combined immunodeficiencies and summarizes current experiences and results. Orv Hetil. 2018; 159(23): 948–956.

SOYBEAN AND FLAX SELECTION METHODS

1970 ◽  
pp. 19-23
Author(s):  
V. М. Lukomets ◽  
S. V. Zelentsov
Keyword(s):  
High Resistance ◽  
Fungal Pathogens ◽  
Selection Process ◽  
Pathogenic Fungi ◽  
Cultivated Plants ◽  
Practical Implementation ◽  
Physiological Basis ◽  
Oil Crops ◽  
Soybean Genotypes ◽  
Genetically Determined

To improve the effectiveness of the soybeans and oil flax breeding, research to improve existing and develop new breeding methods are conducting in all-Russia Research institute of Oil Crops (Krasnodar). One of the improved methods for the soybean breeding, based on the use of sources of complexes of compensatory genes, is the CCG technology, which allows to create varieties with an increased yield of a heterotic level transmitted along the progeny for the entire life cycle of the variety. For the purpose of non-transgenic production of new traits, a theory of polyploid recombination of the genome (TPR) was formulated, which models the mechanism of the natural formation of polymorphism in the centers of origin of cultivated plants. On the basis of this theory, a method of breeding (TPR-technology) has been developed, which makes it possible to obtain recombinant reploids of soybeans and oil flax with an extended spectrum of traits. Of these reploids, the soybean lines with increased sucking force of the roots, providing high drought resistance, were distinguished; cold-resistant soybean lines, which stand in the phase of shoots of freezing to minus 5 °С; lines of oil flax with complete resistance to flax sickness of soil and high resistance to Fusarium; winter-hardy flax lines that withstand winter frosts down to minus 20–23 °С and ripen one and a half months earlier than spring sowings. Another original developed method is the ODCS-technology for isolating and selecting soybean genotypes with high resistance to fungal pathogens. The physiological basis of ODCS-technology is the blocking of osmotic nutrition of pathogenic fungi due to genetically determined increased osmotic pressure in the tissues of host plants. The practical implementation of CCG-, TPR- and ODKS-technologies in the selection process, allowed to create a whole series of soybean and oil flax varieties with improved or new traits.

Differential diagnosis of chiasmal-cellular cyst

2020 ◽  
pp. 47-59
Author(s):  
Nikita Sergeevich Puzakov ◽  
Vladislav Yurievich Cherebillo ◽  
Ilya Aleksandrovich Tregubenko ◽  
Evgeniy Igorevich Kozak ◽  
Yuliya Igorevna Ryumina
Keyword(s):  
Surgical Treatment ◽  
Pituitary Adenomas ◽  
Comparison Group ◽  
Clinical Symptoms ◽  
Differential Diagnostics ◽  
Diagnostic Features ◽  
Accurate Preoperative Diagnosis ◽  
Colloid Cysts ◽  
Surgical Tactics ◽  
Cellular Area

The clinical symptoms of chiasmal-cellular formations are similar, which significantly complicates its differential diagnostics. The differential diagnostics of chiasmal-cellular cysts, which include colloid cysts, arachnoid cysts, Rathke’s pouch cysts, epidermoid and dermoid cysts, is especially difficult. Nevertheless, an accurate preoperative differential diagnostics of chiasmal-cellular cysts is an important stage of preparation for surgical treatment, which allows determining the surgical tactics in advance, because each group of chiasmal-cellular cysts has its own features of surgical treatment, which significantly reduce the number of complications and minimize the number of recurrences. This study intended to improve the efficiency of diagnostics of the chiasmal-cellular cysts by determining the criteria for its differential diagnostics. 94 patients with chiasmal-cellular cysts and pituitary adenomas were examined and treated in the period of 2009 and 2018 for this purpose. As the most frequent pathology of the chiasmal-cellular area, pituitary adenomas were selected as a comparison group due to the fact that it is often necessary to differentiate chiasmal-cellular cysts with this pathology. Patients were divided into 5 groups according to the nosology of the disease. Clinical picture, laboratory analysis and MRI data were studied in each group. Statistical analysis and comparison of the data obtained among all groups were performed, and it allowed to determine the distinctive diagnostic features incidental to each group. It is possible to make an accurate preoperative diagnosis based on the specific features of differential diagnostics.

scholarly journals Gene Therapy for Human Severe Combined Immunodeficiencies

Immunity ◽  
2001 ◽  
Vol 15 (1) ◽  
pp. 1-4 ◽  
Author(s):  
Alain Fischer ◽  
Salima Hacein-Bey ◽  
Françoise Le Deist ◽  
Geneviève de Saint Basile ◽  
Marina Cavazzana-Calvo
Keyword(s):  
Gene Therapy ◽  
Combined Immunodeficiencies ◽  
Severe Combined Immunodeficiencies

scholarly journals Specific Characteristics of Bioelectric Activity of the Brain in Women with Placental Dysfunction Considering the Type of Psychological Component of Gestation Dominant

2018 ◽  
Vol 24 (2) ◽  
Author(s):  
Nataliya Henyk ◽  
Nataliya Yakumchuk
Keyword(s):  
Pregnant Women ◽  
Comparison Group ◽  
Clinical Symptoms ◽  
Gestational Hypertension ◽  
Fetal Distress ◽  
Main Group ◽  
Software Complex ◽  
Placental Dysfunction ◽  
Psychological Component ◽  
Attitude Test

 The study of the influence of the autonomic nervous system on the course of pregnancy, childbirth and fetal state remains relevant. Changes in the parameters of electroencephalography may be detected long before the onset of clinical symptoms in the complicated course of pregnancy.  The objective of the research was to evaluate electroencephalography in women with placental dysfunction and gestational complications taking into account the type of psychological component of gestation dominant.  Materials and methods. Electroencephalography was performed in 60 pregnant women at the age of 19 to 45 years with gestational hypertension and fetal distress during pregnancy. The main group included 40 patients, who were stratified according to the type of psychological component of gestation dominant: 10 patients with euphoric type, 20 pregnant women with anxious and depressive type, 10 patients with hypogestognostic type. The comparison group comprised 20 patients with optimal type of psychological component of gestation dominant and normal course of the first half of pregnancy. The assessment of psychological component of gestation dominant was carried out according to the method proposed by Dobriakov I.V. - "Pregnant woman attitude test". Registrations, spectral and coherent analysis of electroencephalography were performed using BrainTest-24 hardware and software complex.  \textbf{Results and discussion. }Electroencephalography of the patients of the comparison group was in line with current concepts regarding the physiological norm. In the main group, there were the following changes in electroencephalography: non-sinusoidal forms of alpha-oscillations (77.5%), high index of fast rhythms, flashes of spike waves under load, disturbances of the frontal occipital gradient with the focus on the anterior sections of the hemispheres.  Conclusions. The use of electroencephalography in women with different types of psychological component of gestation dominant in case of progressive placental dysfunction and preeclampsia on its background allows identifying characteristic changes, modifying the program of therapeutic measures, differentiating obstetric tactics and terms of delivery.

scholarly journals Optimization of rehabilitation measures after artificial abortion as the result of immunomodulator aminodihydrophthalasindione sodium apply in comprehensive therapy

2019 ◽  
pp. 156-161
Author(s):  
E. A. Voroshilova
Keyword(s):  
Marked Reduction ◽  
Clinical Effect ◽  
Comparison Group ◽  
Clinical Symptoms ◽  
Randomized Study ◽  
Main Group ◽  
Control Group ◽  
Comprehensive Therapy ◽  
Effect Of Treatment ◽  
Artificial Abortion

The article presents the results of a comparative randomized study, the purpose of which was to evaluate the effectiveness of the use of aminodihydrophthalasindione sodium (Galavit, LLC SELVIM, Russia) in the treatment of patients undergoing an abortion. Included in the study, 48 women were divided into two groups, 24 patients of the main group in addition to the standard rehabilitation were treated with aminodihydrophthalasindione sodium in the comparison group – 24 patients underwent only standard rehabilitation. In this study, all patients (100%) of the main group who were treated with aminodihydrophthalasindione sodium in addition to the standard therapy marked reduction of the clinical symptoms of the disease and positive dynamics was observed at ultrasound. In the control group, the full clinical effect of treatment was observed only in 10 patients (52.6%). 9 women (47,4%) required repeated therapy. Ultrasound studies in 12 patients (63.2%) showed changes equivalent to endometritis.

scholarly journals MON-059 Acute Hyponatremia Following Computed Tomography Radiocontrast in a Pediatric Patient

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Harvey Kenn Chiu ◽  
Shadfar Bahri ◽  
Paul Iskander
Keyword(s):  
Computed Tomography ◽  
Pediatric Patient ◽  
Time Course ◽  
Clinical Symptoms ◽  
Laboratory Finding ◽  
Mature Teratoma ◽  
Correct Diagnosis ◽  
Ct Angiogram ◽  
Extracellular Compartment ◽  
Acute Hyponatremia

Abstract Hyponatremia is a common laboratory finding. Radiocontrast is hyperosmolar and can draw fluid from the intracellular to the extracellular compartment, but radiocontrast-induced hyponatremia is rare, usually noted in the context of renal insufficiency as a consequence of extracellular expansion exceeding diuresis. We describe an unusual case of 3-year old girl with normal renal function who developed significant hyponatremia following computed tomography radiocontrast. The patient had a mediastinal mixed yolk sac/germ cell tumor and mature teratoma. Imaging was performed with a PET/CT, cardiac CT angiogram, and abdominal CT, for which she received Omnipaque radiocontrast 2 cc/kg. Hyponatremia developed 5 days after administration, with a fall from a baseline sodium of 141 mmol/L to an eventual nadir sodium of 123 mmol/L. An assessment using the serum osmolality of 266 mOsm/kg failed to diagnose hyperosmolar effects of the radiocontrast, with an undetectable concurrent vasopressin level of <0.5 pg/mL. 3% NS boluses failed to have an enduring effect. Without a specific enduring intervention, the hyponatremia then resolved 9 days after administration of the radiocontrast, as the sodium levels remained between 134–139 mmol/L over the subsequent 5 days. Recognition of the clinical scenario and time course of events for radiocontrast-induced hyponatremia is essential for a correct diagnosis. Pediatric patients may be particularly susceptible to radiocontrast-induced hyponatremia given the inherently small size, and following administration of radiocontrast in a pediatric patient, significant morbid hyponatremia is a possible sequalae that should suspected especially if suggestive clinical symptoms present.

scholarly journals Clinical Manifestation and Laboratory Finding of Sclerosis Systemic Patient in Dr. Hasan Sadikin General Hospital Bandung : A Descriptive Quantitative Study

2018 ◽  
Vol 10 (1) ◽  
Author(s):  
Annisa Meivira Budiman ◽  
Sumartini Dewi ◽  
Marietta Shanti Prananta
Keyword(s):  
Systemic Sclerosis ◽  
General Hospital ◽  
Clinical Manifestation ◽  
Clinical Symptoms ◽  
Laboratory Finding ◽  
Renal Involvement ◽  
Clinical Manifestations ◽  
Laboratory Findings ◽  
Rheumatology Clinic ◽  
Quantitative Design

Background Systemic sclerosis is a chronic progressive multisystem autoimmune disease in connective tissue, characterized by its heterogeneous clinical manifestation. The purpose of this study is to give information regarding clinical manifestations and laboratory findings of systemic sclerosis patients to establish diagnosis of disease. Methods This study was conducted using descriptive quantitative design in September−October 2016. Data was collected from medical records of patients visiting Rheumatology Clinic Dr. Hasan Sadikin General Hospital from 1 July 2015−30 June 2016 using total sampling method. The collected data were expected to comprise patient’s clinical manifestation and laboratory finding. Results Most of patients had cutaneous 57 (100.0%) and musculoskeletal 40 (70.2%) involvement. Some of the disease manifestations were Raynaud’s phenomenon 38 (66.7%), fingertip lesion 33 (57.9%), stiffness in skin 34 (59.6%), and arthalgia 29 (50.9%). Gastrointestinal involvements were present in 29 (50.9%) patients. Renal involvement were determined from urinalysis result showed proteinuria 10 (17.5%) and hematuria 8 (14.0%), found in 24 (42.1%) patients, while pulmonary and cardiac involvements were found in 30 (52.6%) patients, acknowledged from clinical symptoms such as dyspnea 12 (21.1%). Identification of autoantibodies was found in 12 (21.1%) patients, with 10 (17.5%) patients had reactive ANA and 3 (3.5%) had positive anti-Scl70. Conclusion Most of systemic sclerosis patients had cutaneous involvement. Renal, pulmonary, and cardiac involvement were concluded based on laboratory findings. Keywords: Systemic sclerosis, clinical manifestation, laboratory finding

scholarly journals EFFECTIVENESS OF FIXED COMBINATION OF FORMULATIONS FOR COUGHING

2020 ◽  
Vol 20 (4) ◽  
pp. 45-48
Author(s):  
V. M. Zhdan ◽  
Н. S. Khaimenova ◽  
M. Yu. Babanina ◽  
O.A. Kyrian ◽  
I. V. Ivanitskiy
Keyword(s):  
Respiratory Disease ◽  
Respiratory Diseases ◽  
Comparison Group ◽  
Clinical Symptoms ◽  
Fixed Combination ◽  
Pathological Process ◽  
Efficacy And Safety ◽  
Bronchial Secretion ◽  
Acute Respiratory Diseases ◽  
The Difference

There are many respiratory diseases, which despite the difference in aetiology, pathogenesis, the peculiarities in progression may have some common features, resulting in the localization of the pathological process in the respiratory systems. These common signs include changes in bronchial secretion that ultimately leads to mucostasis and burdens the course of any respiratory disease. There are very few combined formulations capable of impacting several mechanisms of mucostasis at once. One of them is Ascoril possessing a double effect of bronchodilator and expectorant. The aim of this study was to evaluate the clinical efficacy and safety of Ascoril therapy for patients with acute respiratory diseases. The study included 105 patients aged 25 ± 0.5 to 55 ± 1.6 years with mild or moderate acute respiratory disease, who had acute respiratory diseases with cough due to laryngitis, pharyngitis, tracheitis, bronchitis. Patients of the 1st group (75 patients, the main group) received the treatment with Ascoril, the patients of the 2nd group (30 patients, the comparison group) received Bromhexine. The patients in both groups were comparable by age and sex. The patients treated with Ascoril showed the disappearance of cough symptoms 3 – 4 days earlier than the patients in the comparison group (p < 0.05). The total score assessment of clinical symptoms during the treatment demonstrated the administration of Ascoril promoted the effectiveness of therapy, which was found significantly higher than in the 2nd group (p < 0.05). We can conclude Ascoril reduces the duration of the disease, cut down the need in antibiotics, lowers the manifestations of bronchial hyper reactivity, and promotes faster clinical recovery, the last but not the least, it is safe.

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