scholarly journals THE ROLE OF CONNECTIVE TISSUE DYSPLASIA IN CHILDREN’S CYSTIC FIBROSIS. CLINICAL AND GENETIC ASPECTS

2018 ◽  
Vol 63 (5) ◽  
pp. 20-28
Author(s):  
A. V. Goryainova ◽  
P. V. Shumilov ◽  
N. Yu. Kashirskaya ◽  
S. Yu. Semykin
Keyword(s):  
Cystic Fibrosis ◽  
Liver Fibrosis ◽  
Connective Tissue ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Clinical Manifestations ◽  
History Of ◽  
Connective Tissue Dysplasia ◽  
Severe Fibrosis

The article considers the issue of cystic fibrosis – a monogenic autosomal recessive disease. It describes the history of the CFTR gene discovery, the further search for modifier genes to explain the variability of the clinical manifestations of cystic fibrosis. The review discusses problems of connective tissue dysplasia and somatic pathology, which is formed due to the connective tissue dysmorphogenesis in patients with cystic fibrosis; and also the article contains justification for the connection between the formation of severe fibrosis of the lungs and liver and the presence of clinical and genetic markers of connective tissue dysplasia. The author assumes that the clinical and genetic polymorphisms of connective tissue influence the course of cystic fibrosis, formation of bronchiectasis, interstitial pneumofibrosis, cystic fibrosis dysplasia, liver fibrosis and cirrhosis.

scholarly journals ASTHMA IN CYSTIC FIBROSIS

2015 ◽  
Vol 64 (2) ◽  
pp. 118-121
Author(s):  
Marcela Daniela Ionescu ◽  
◽  
Ioana-Alina Anca ◽  
Mihaela Balgradean ◽  
◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Lung Disease ◽  
Airway Obstruction ◽  
Autosomal Recessive ◽  
Pulmonary Infection ◽  
Autosomal Recessive Disease ◽  
Personal History ◽  
Common Symptom ◽  
Infection And Inflammation ◽  
History Of

Cystic fibrosis (CF) is the most common autosomal recessive disease in Caucasians. Lung disease is characterized by impaired mucocilliary clearance with airway obstruction and chronic pulmonary infection and inflammation. Wheeze is a common symptom in CF, but in some cases the wheeze is due to the presence of concomitant asthma. There is no consensus on how to define CF asthma, but the diagnosis is predominantly based on the patient’s strong family and personal history of atopy.

scholarly journals Difficulties in the Differential Diagnosis of Tracheobronchomegaly in Children

2020 ◽  
Vol 101 (3) ◽  
pp. 175-182
Author(s):  
N. A. Il’ina ◽  
L. E. Vorob’eva ◽  
M. D. Bakradze ◽  
A. S. Polyakova
Keyword(s):  
Cystic Fibrosis ◽  
Connective Tissue ◽  
Pulmonary Fibrosis ◽  
Connective Tissue Diseases ◽  
Clinical Manifestations ◽  
Tracheobronchial Tree ◽  
Developmental Defect ◽  
Upper Respiratory Tract ◽  
Upper Respiratory

Tracheobronchomegaly is a rare developmental defect in children, which is characterized by the expansion of the trachea and large bronchi, the diagnosis and treatment of which are made more often in adult practice, when the clinical diagnostic picture acquires the obvious features of Mounier-Kuhn syndrome. In this connection, the need arises for the early detection of this pathology in children and its differentiation from other diseases and malformations of the tracheobronchial tree, which mask a recurrent inflammatory process in the lung and upper respiratory tract, and primarily with those, such as cystic fibrosis and primary ciliary dyskinesia.The paper describes a case of secondary tracheobronchomegaly in a child with obvious clinical manifestations of Mounier-Kuhn syndrome in the presence of bronchiectasis, pulmonary fibrosis, and signs of systemic connective tissue disease. It discusses the possibilities of chest computed tomography in the diagnosis of this defect in children, as well as its causes. The sizes of the trachea and main bronchi in this patient are compared with those in the groups of children of the same age and sex who have cystic fibrosis or diffuse pulmonary fibrosis to identify a more significant role of hereditary connective tissue diseases in the development of secondary tracheobronchomegaly. The authors propose to separate the concepts of tracheobronchomegaly and Mounier-Kuhn syndrome in children and to recognize the threshold for tracheal expansion in these patients having +3SD or more.

scholarly journals CLINICAL AND ANAMNESTIC FEATURES OF THE COURSE OF ACUTE BRONCHITIS IN CHILDREN

2018 ◽  
Vol 5 (3) ◽  
pp. 143-147
Author(s):  
M. Strelkova ◽  
G. Senatorova
Keyword(s):  
Connective Tissue ◽  
Clinical Manifestations ◽  
Significant Risk ◽  
Acute Bronchitis ◽  
General Information ◽  
Duration Of Symptoms ◽  
History Of ◽  
Connective Tissue Dysplasia ◽  
Dynamic Examination ◽  
Severity Of The Disease

CLINICAL AND ANAMNESTIC FEATURES OF THE COURSE OF ACUTE BRONCHITIS IN CHILDRENStrelkova M., Senatorova G. The purpose of the study wasto detect clinical and anamnestic features of the course of acute obstructive bronchitis in children with a background of undifferentiated connective tissue dysplasia. Dynamic examination of 42 children with acute obstructive bronchitis was performed. The registration card for all children was developed and filled, it consisted of several sections: general information, family history, allergic history, life and past medical history, phenotypic assessment of undifferentiated connective tissue dysplasia. The results indicate that compromised allergic and genealogical history, as well as burdened obstetric history of the mother (threatened preterm delivery and gestosis) is significant risk factors. Assessment of clinical manifestations of acute obstructive bronchitis in children showed that the severity of the disease, which is determined by the degree of severity and duration of symptoms, was associated with the number of signs ofUCTD.Keywords: acute obstructive bronchitis, children, undifferentiated connective tissue dysplasia, wheezing, phenotypic assessment. РезюмеКЛИНИЧЕСКИЕ И АНАМНЕСТИЧЕСКИЕ ОСОБЕННОСТИ ТЕЧЕНИЯ ОСТРОГО БРОНХИТА У ДЕТЕЙСтрелкова М., Сенаторова Г.Метою дослідження було виявити клінічні та анамнестичні особливості перебігу гострого обструктивного бронхіту (ГОБ) у дітей на тлі недиференційованої дисплазії сполучної тканини. Проведено динамічне обстеження 42 дітей з гострим обструктивним бронхітом. Розроблено і заповнено реєстраційну картку для всіх дітей, вона складалася з кількох розділів: загальна інформація, сімейний анамнез, алергологічний анамнез, анамнез життя та хвороби дитини, фенотипічні оцінки недиференційованої дисплазії сполучної тканини. Результати свідчать про наявність факторів ризику - наявність обтяженого алергологічного та генеалогічного анамнезу, а також обтяжений акушерський анамнез матері (наявність загрози передчасних пологів та гестозів). При аналізі клінічних проявів ГОБ у дітей було встановлено, що ступінь тяжкості та тривалості симптомів захворювання була пов'язана з кількістю ознак недиференційованої дисплазії сполучної тканини.Ключові слова: гострий обструктивний бронхіт, діти, недиференційована дисплазія сполучної тканини, фенотипічні ознаки. Резюме.КЛИНИЧЕСКИЕ И АНАМНЕСТИЧЕСКИЕ ОСОБЕННОСТИ ТЕЧЕНИЯ ОСТРОГО БРОНХИТА У ДЕТЕЙСтрелкова М., Сенаторова Г.Целью исследования было выявить клинические и анамнестические особенности течения острого обструктивного бронхита у детей на фоне недифференцированной дисплазии соединительной ткани. Проведено динамическое обследование 42 детей с острым обструктивным бронхитом (ООБ). Разработаны и заполнены регистрационную карточку для всех детей, она состояла из нескольких разделов: общая информация, семейный анамнез, аллергологический анамнез, анамнез жизни и болезни ребенка, фенотипическая оценка признаков недифференцированнойдисплазиисоединительной ткани. Результаты свидетельствуют о наличии факторов риска - наличие отягощенного аллергологического и генеалогического анамнеза, а также отягощенный акушерский анамнез матери (наличие угрозы преждевременных родов и гестозов). При анализе клинических проявлений ГОБ у детей было установлено, что степень тяжести и продолжительности симптомов заболевания была связана с количеством признаков признаков недифференцированнойдисплазиисоединительной ткани.Ключевые слова: острый обструктивный бронхит, дети, недифференцированная дисплазия соединительной ткани, фенотипические признаки.

Papillon-Lefevre Syndrome: Challenge for Periodontal Management

2019 ◽  
Vol 3 (2) ◽  
pp. 84-86
Author(s):  
Krishna Prasad Lamichhane ◽  
Shaili Pradhan ◽  
Ranjita Shreshta Gorkhali ◽  
Pramod Kumar Koirala
Keyword(s):  
Significant Role ◽  
Autosomal Recessive ◽  
Clinical Manifestations ◽  
Autosomal Recessive Disorder ◽  
Genetic Mutations ◽  
Rare Autosomal Recessive Disorder ◽  
Diagnosis And Management ◽  
Periodontal Destruction ◽  
Palmoplantar Keratosis

Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive disorder associated with rapidly progressing periodontitis leading to premature loss of deciduous and permanent dentition and diffuse palmoplantar keratosis. Immunologic alterations, genetic mutations, and role of bacteria are some aetiologic factors. Patients present with early periodontal destruction, so periodontists play a significant role in diagnosis and management. This paper reports a case of Papillon- Lefevre syndrome with its clinical manifestations and challenges for periodontal management which was diagnosed in dental department.

Zinc and Acrodermatitis Enteropathica

1980 ◽  
Vol 2 (3) ◽  
pp. 88-94
Keyword(s):  
Zinc Deficiency ◽  
Autosomal Recessive ◽  
Acid Metabolism ◽  
Autosomal Recessive Disease ◽  
Dna Polymerases ◽  
Clinical Manifestations ◽  
Acrodermatitis Enteropathica ◽  
Nucleic Acid Metabolism ◽  
Zinc Metalloenzymes ◽  
Rna And Dna

Mammalian zinc metalloenzymes include alkaline phosphatase. Zinc plays a crucial role in nucleic acid metabolism. RNA and DNA polymerases and thymidine kinase are zinc-dependent enzymes. Zinc deficiency in North America is most clearly seen in the disease acrodermatitis enteropathica. This is an autosomal recessive disease due to a zinc metabolic error—not well defined—which leads to zinc deficiency. Clinical manifestations include a rash around orifices, alopecia, and diarrhea. The laboratory can demonstrate hypozincemia and hypozincuria. Clinical and biochemical remission occurs with oral zinc administration.(R.H.R.)

PECULIARITY OF ADAPTATION OF BABIES ARE BORN PREMATURELY FROM MOTHERS WITH UNDIFFERENTIATED CONNECTIVE TISSUE DYSPLASIA

2021 ◽  
Vol 74 (10) ◽  
pp. 2566-2568
Author(s):  
Tunzala V. Ibadova ◽  
Vitalii V. Maliar ◽  
Volodymyr V. Maliar ◽  
Vasyl V. Maliar
Keyword(s):  
Connective Tissue ◽  
Premature Infants ◽  
Distress Syndrome ◽  
Comparison Group ◽  
Clinical Manifestations ◽  
Main Group ◽  
Phenotypic Markers ◽  
Group I ◽  
Neonatal Respiratory Distress ◽  
Connective Tissue Dysplasia

The aim: To evaluate the peculiarity of clinical manifestations of neonatal respiratory distress syndrome (NRDS) in deeply premature infants from mothers with phenotypic markers of undifferentiated connective tissue dysplasia (UCTD). Materials and methods: The study represent the results of a retrospective clinical and statistical analysis of 268 premature birth report card and newborn report sheet. .The main (1 group) included 50 pregnants with obvious phenotypic markers of UCTD, the comparison group (group 2) consisted of 50 pregnant women without phenotypic markers of UDCTD. Results: According to the study, in 12 (24%) pregnant women of the main group at the time of admission to the clinic had contractions,which required specific therapy. Cervical cerclage was performed in 38 (76%) patients of the main group due to the presence of cervical insufficiency (CI). In these cases, the severity of the CI on the Steinber scale was 7.2 ± 0.4 points in the main group against 4.4 ± 0.2 points in the comparison group (p <0.05). Group I patients were more likely to have complications of labor such as:premature rupture of membranes, uterine contraction abnormalities and fetal distress, which required in most cases cesarean delivery (7% and 2%), respectively (p <0.05). The incidence of neonatal complications requiring respiratory support was 67% in group I and 48% in group II. According to our observations, the clinical manifestations of bronchopulmonary dysplasia were twice as high in infants of the main group (66%) against (44%) of the comparison group (p <0.05). Conclusions:1.Neonatal respiratory distress syndrome in premature infants is more often associated from mothers with UDCTD. 2. The high importance of steroid prophylaxis of NRDS and antioxidant therapy in reducing the frequency of mechanical ventilation and the development of bronchopulmonary pathology, especially in infants from mothers with UDCTD syndrome, has been proven. 3. The possibility of diagnosing disorders of functional maturation of the lungs in the fetal period using a non-invasive method of ultrasonography has been confirmed.

scholarly journals Clinical manifestations of connective tissue systemic injury in women of early reproductive age having small pelvis varicosis

2006 ◽  
Vol 5 (1) ◽  
pp. 87-90
Author(s):  
V. G. Mozes ◽  
K. B. Mozes
Keyword(s):  
Connective Tissue ◽  
Clinical Examination ◽  
Clinical Manifestations ◽  
Sialic Acids ◽  
Reproductive Age ◽  
Severe Dysplasia ◽  
Study Results ◽  
Connective Tissue Dysplasia ◽  
Tissue Metabolites

The aim of the study was to define manifestations of non-differentiate forms of connective tissue dysplasia in women of early reproductive age having small pelvis varicosis. The study results showed that patients having small pelvis varicosis revealed more often phenotype manifestations of non-differentiate forms which were seen in clinical examination. Increased level of serum sialic acids and increasing excretion of connective tissue metabolites (free oxyproline and glycosaminoglycanes) with urine were consequence of connective tissue systemic injury in these patients which is in accordance with data of non-severe dysplasia process. The study performed allowed to conclude that the small pelvis varicosis in women of early reproductive age is a manifestation of systemic injury of connective tissue.

scholarly journals CARDIAL MANIFESTATIONS OF NON-DIFFERENTIATED CONNECTIVE TISSUE DYSPLASIA AND THEIR INFLUENCE ON PREGNANCY

2021 ◽  
pp. 14-22
Author(s):  
V. Yu. DOBRIANSKA ◽  
S. M. HERYAK ◽  
L. M. MALANCHUK ◽  
M. I. SHVED ◽  
I. V. KORDA
Keyword(s):  
Mitral Valve ◽  
Connective Tissue ◽  
Ventricular Arrhythmia ◽  
Pregnant Women ◽  
Mitral Valve Prolapse ◽  
Clinical Signs ◽  
Clinical Manifestations ◽  
Adequate Treatment ◽  
Pregnancy And Childbirth ◽  
Connective Tissue Dysplasia

Among the visceral manifestations of NDST in pregnant women most often diagnosed mitral valve prolapse (20-25%) that accompanied by more cardiovascular and obstetric complications during pregnancy. It demonstrates the high clinical significance of the problem of connective tissue dysplasia with mitral valve prolaps for pregnancy and requires adequate treatment programs for prevention of complications and management of pregnant women with connective tissue dysplasia. Aim. Determination of the frequency of pregnancy pathology in women with clinical signs of NDST and MVP complicated by extrasystolic arrhythmia. Materials and methods. 138 pregnant women with MVP and concomitant signs of NDST and 54 healthy pregnant women were selected for analysis. Clinical manifestations of NDST, different variants of arrhythmias and the total number of complications of pregnancy and childbirth were evaluated. Results. In pregnant women with clinical signs of NDST and MVP complicated by extrasystolic arrhythmia, cases of frequent sinus extrasystole were significantly more often compared to frequent ventricular arrhythmia (47.8% vs. 18.1%, p<0.001) and cases of combination of frequent sinus extrasystole and ventricular arrhythmia (13.3 % vs. 1.5%, p <0.05). They significantly more often identified both symptoms of arrhythmological nature and symptoms that indicated a violation of autonomic status. The presence of NDST syndrome is more often accompanied by the development of complications of pregnancy and childbirth. These pregnant women have genetic and phenotypic risk factors for the development of pathological pregnancy and childbirth, birth trauma, disability of mother and newborn, which justifies such patients in a separate risk group for individualized programs of the prevention and treatment of visceral (cardiac) manifestations of NDST and possible complications of pregnancy and childbirth. Conclusions. 3.1% of pregnant women are diagnosed with phenotypic signs (stigma) of undifferentiated connective tissue dysplasia, and the most common visceral cardiac manifestation is mitral valve prolapse. The presence of mitral valve prolapse and extrasystolic arrhythmia in pregnant women with NDST is accompanied by significantly more frequent development of pregnancy and childbirth complications in these patients.

scholarly journals Therapeutic guidelines for the treatment of cystic fibrosis

Pharmacia ◽  
2021 ◽  
Vol 68 (1) ◽  
pp. 151-154
Author(s):  
Maria Becheva ◽  
Petar Atanasov
Keyword(s):  
Cystic Fibrosis ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Clinical Evaluations ◽  
Number Of Patients ◽  
Therapeutic Guidelines ◽  
Therapeutic Measures ◽  
One Year ◽  
Respiratory Rehabilitation

Cystic fibrosis (CF) is a complex, systemic autosomal recessive disease that affects the functions of the respiratory system, the digestive tract and all exocrine glands. The frequency for Europe averages 1: 2500 to 1: 3500 live births. The total number of patients with cystic fibrosis in Bulgaria is about 180. About 10% of the patients are diagnosed at birth. About 60–70% of patients are diagnosed before they reach one year of age. Respiratory symptoms predominate in the clinical picture in patients with cystic fibrosis and determine the prognosis in more than 90% of the patients. The treatment of patients with cystic fibrosis is strictly individualized, pharmacological and non-pharmacological and requires a comprehensive therapeutic approach. The complex therapy also includes bronchodilators, NSAIDs, corticosteroids, respiratory rehabilitation in combination with general body massage. Continued courses of broad-spectrum antibiotics are required to suppress chronic infection. With the progression of the disease, complications such as atelectasis, pneumothorax and pulmonary hemorrhages are observed. The establishment of specialized centers with trained and experienced professionals is essential in order to provide optimal patient care. These include frequent clinical evaluations, follow-up of complications, and early interventions for the treatment of patients with cystic fibrosis. The aim of the article is to familiarize the audience with the therapeutic measures applied in the treatment of patients with cystic fibrosis.

scholarly journals Radiotherapy for Recurrent Keloid: A Case Report

2020 ◽  
Vol 6 (3) ◽  
pp. 89-91
Author(s):  
Christina Hari Nawangsih Prihharsanti ◽  
Muhamad Rizqi Setyarto ◽  
Dion Firli Bramantyo
Keyword(s):  
Connective Tissue ◽  
Recurrence Rate ◽  
Corticosteroid Injection ◽  
Inflammatory Cells ◽  
Early Postoperative Period ◽  
High Recurrence Rate ◽  
Surrounding Soft Tissue ◽  
History Of

Background: Keloid is a benign growth of connective tissue. There are several risk factors that play a role in keloid growth. Excision surgery is one of the modalities in the treatment of keloids. However, excision surgery alone has a recurrence rate of 45-100%.Case: Male, 37 years old, with complaints arising from a keloid lesions in the left earlobe since three years ago with a history of previous injuries. The lesions is then operated on but always grows back postoperatively. The number of surgeries that have been carried out three times with further treatment in the form of corticosteroid injection. However, keloid still recurrence. Finally it was decided to undergo treatment with surgery followed by radiotherapy within a period of no more than 24 hours postoperatively. Follow-up after six months gave good results without recurrence.Discussion: Keloid has a high recurrence rate after excision surgery. Surgery followed by radiotherapy has a low recurrence rate compared to surgery or surgery followed by administration of corticosteroid injections. Radiotherapy as adjuvant therapy for postoperative keloid excision has the role of sterilizing the connective tissue stem cell active fibroblasts and acute inflammatory cells that grow in the early postoperative period. A study states that administration of postoperative radiation with electrons in keloids in the earlobe at a dose of 15 Gy in three fractions gives a low recurrence rate and a low risk of side effects in the surrounding soft tissue. 

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