scholarly journals Mucus Distribution Model in a Lung with Cystic Fibrosis

2012 ◽  
Vol 2012 ◽  
pp. 1-8 ◽  
Author(s):  
Sara Zarei ◽  
Ali Mirtar ◽  
Forest Rohwer ◽  
Douglas J. Conrad ◽  
Rebecca J. Theilmann ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Volume Growth ◽  
Early Mortality ◽  
Distribution Model ◽  
Construction Process ◽  
Airway Wall ◽  
Single Patient ◽  
Live Births

Cystic fibrosis (CF) is the most common autosomal recessive disease in Caucasians with a reported incidence of 1 in every 3200 live births. Most strikingly, CF is associated with early mortality. Host in flammatory responses result in airway mucus plugging, airway wall edema, and eventual destruction of airway wall support structure. Despite aggressive treatment, the median age of survival is approximately 38 years. This work is the first attempt to parameterize the distributions of mucus in a CF lung as a function of time. By default, the model makes arbitrary choices at each stage of the construction process, whereby the simplest choice is made. The model is sophisticated enough to fit the average CF patients' spirometric data over time and to identify several interesting parameters: probability of colonization, mucus volume growth rate, and scarring rate. Extensions of the model appropriate for describing the dynamics of single patient MRI data are also discussed.

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.

Bowel Adenocarcinoma in a Patient with Cystic Fibrosis

1986 ◽  
Vol 31 (2) ◽  
pp. 109-109 ◽  
Author(s):  
J.A. Roberts ◽  
W.M. Tullett ◽  
J. StJ. Thomas ◽  
D. Galloway ◽  
B.H.R. Stack
Keyword(s):  
Cystic Fibrosis ◽  
Adult Male ◽  
Growth And Development ◽  
Autosomal Recessive ◽  
Malignant Tumours ◽  
Live Births ◽  
Bronchopulmonary Infection ◽  
Autosomal Recessive Condition ◽  
Resistance To Infection ◽  
The Uk

Cystic fibrosis (CF) is an autosomal recessive condition affecting one in 2,000 live births in the UK. There are few reports of malignant tumours in this condition probably because, until recently, the majority died before the age of 30 years as a result of recurrent and chronic bronchopulmonary infection with impaired growth and development and resistance to infection due to pancreatic malabsorption. We describe an adult male with CF who died from an adenocarcinoma affecting the ileocaecal region of the bowel.

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.

EVALUATION OF CFTR CHANNEL FUNCTION AND RESPONSES TO MODULATORS FOR CYSTIC FIBROSIS PATIENTS WITH GENETIC VARIANT F508DEL

2020 ◽  
pp. 232-234
Author(s):  
A. Efremova ◽  
T. Bukharova ◽  
N. Petrova ◽  
N.Kashirskaya Kashirskaya ◽  
Y. Melyanovskaya ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Autosomal Recessive ◽  
Genetic Variant ◽  
Autosomal Recessive Disease ◽  
Target Therapy ◽  
Allelic Frequency ◽  
Common Life ◽  
Life Threatening ◽  
Cftr Protein ◽  
The Russian Federation

Cystic fibrosis (CF) is the most common life-threatening autosomal recessive disease. CF is caused by mutations in the CFTR gene that encodes an anionic channel, which is expressed in epithelial cells. The most common genetic variant is F508del, its allelic frequency in the Russian Federation 52.81% (2017). This variant belongs to class II, leads to incorrect folding of the CFTR protein and its premature degradation. Currently, the effectiveness of target therapy can be individually evaluated by forskolin-induced swelling (FIS) assay on intestinal organoids obtained from CF patients with different genotypes.

scholarly journals Oral care precautions for patients with cystic fibrosis

2021 ◽  
Vol 3 (2) ◽  
pp. 073-079
Author(s):  
H. Goumghar ◽  
M. Sidqui
Keyword(s):  
Cystic Fibrosis ◽  
Oral Hygiene ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Oral Care ◽  
Poor Oral Hygiene ◽  
Optimal Care ◽  
Hygiene Practices ◽  
Medical Issues ◽  
Increased Risk

Cystic fibrosis (CF) is the most common severe autosomal recessive disease in the Caucasian population. Although it remains incurable, it is currently possible to extend the life expectancy of patients with modern therapeutic possibilities. Given the medical issues that a child with CF faces, oral health may be perceived as being of lesser importance. Thus, the establishment of good dietary and oral hygiene practices may not take place, leading to an increased risk of caries and gingivitis due to poor oral hygiene. A change in patient management may be necessary to ensure optimal care.

scholarly journals Cystic Fibrosis - Related Diabetes

2021 ◽  
Vol 11 (6) ◽  
pp. 42-46
Author(s):  
Marcin Makuch ◽  
Marcelina Makuch
Keyword(s):  
Cystic Fibrosis ◽  
Autosomal Recessive ◽  
Glucose Tolerance Test ◽  
Autosomal Recessive Disease ◽  
Tolerance Test ◽  
Oral Glucose ◽  
Transmembrane Conductance Regulator ◽  
Transmembrane Conductance ◽  
Regulator Protein ◽  
Cystic Fibrosis Transmembrane

Cystic fibrosis (CF) is life-shortening autosomal recessive disease, caused by mutations in the cystic fibrosis transmembrane conductance regulator protein. The most common of CF complications is cystic fibrosis-related diabetes (CFRD). The pathophysiology of CFRD is complex. The best test for screening and diagnosis of CFRD is the oral glucose tolerance test (OGTT). Insulin therapy is a treatment of choice in CFDR pharmacotherapy. An inseparable element of CFRD therapy is also physical activity and diet.

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 The spectrum of CFTR gene pathogenic variants in Northern Ossetia

2020 ◽  
pp. 57-59
Author(s):  
Н.В. Балинова ◽  
Н.В. Петрова ◽  
З.К. Гетоева ◽  
Н.Ю. Каширская ◽  
Т.А. Васильева ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Chloride Channel ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Cftr Gene ◽  
Gene Variants ◽  
Healthy Individuals ◽  
Pathogenic Variants ◽  
The Republic ◽  
North Ossetia

Муковисцидоз (МВ) - аутосомно-рецессивное заболевание, обусловленное нарушением функции эпителиального хлорного канала, кодируемого геном CFTR. Спектр и частота вариантов последовательности гена CFTR, как и частота МВ различаются в разных странах и этнических группах. Изучено распределение частот вариантов гена CFTR у больных МВ и у здоровых индивидов в Республике Северной Осетия-Алания. Спектр патогенных вариантов у осетинских больных МВ отличается своеобразием: наиболее частыми являются два варианта W1282X (50%) и F508del (20%), тогда как в общероссийской выборке пациентов самыми частыми являются варианты F508del (52,8%) и CFTRdele2,3 (6,2%), а вариант W1282X (1,90%) относительно редок. В выборке здоровых осетин частоты выявленных вариантов W1282X и F508del составляют 0,0032 и 0,0016, соответственно. Cystic fibrosis (CF) is an autosomal recessive disease caused by impaired function of the epithelial chloride channel encoded by the CFTR gene. The spectrum and frequency of CFTR gene variants, as well as the CF incidence, vary in different countries and ethnic groups. The frequency distribution of CFTR gene variants in CF patients and in healthy individuals in the Republic of North Ossetia-Alania was studied. The spectrum of pathogenic variants in Ossetian CF patients is specific: the most frequent are two variants W1282X (50%) and F508del (20%), while in the all-Russian CF patients the most frequent are variants - F508del (52.8%) and CFTRdele2.3 (6.2%), and the variant W1282X (1.90%) is relatively rare. In healthy Ossetians, the frequencies of detected variants W1282X and F508del are 0.0032 and 0.0016, respectively. The most common CFTR gene variants are W1282X and F508del, found both in CF patients and healthy individuals from the Ossetian population of the Republic of North Ossetia-Alania.

Genetic screening: For better or for worse?

PEDIATRICS ◽  
1977 ◽  
Vol 59 (1) ◽  
pp. 131-133
Author(s):  
Neil A. Holtzman
Keyword(s):  
Cystic Fibrosis ◽  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Genetic Screening ◽  
Autosomal Recessive ◽  
Safe Procedure ◽  
American Population ◽  
Live Births ◽  
Tay Sachs Disease ◽  
Autosomal Recessive Diseases

Cystic fibrosis, sickle cell anemia, Tay-Sachs disease, and thalassemia are autosomal-recessive diseases that occur more frequently than once in 4,000 live births in subgroups of the American population. Tay-Sachs disease can be diagnosed by mid-trimester amniocentesis, a safe procedure.1 Early intrauterine detection of sickle cell anemia and thalassemia by placental aspiration has been reported2,3; the safety and accuracy of the techniques require confirmation. In the future, diagnosis of the 16-week fetus with cystic fibrosis will also be possible. Prenatal diagnosis could drastically reduce the incidence of these disorders, but there are two prerequisites. First, couples in whom both mates are carriers must be identified before they have any children.

Micro-gallbladder: A rare surgical problem

2021 ◽  
pp. 004947552199818
Author(s):  
Uttam Kumar Thakur ◽  
Niladri Mohan Raypattanaik ◽  
Manish Kumar ◽  
Cherring Tandup ◽  
Lileswar Kaman
Keyword(s):  
Cystic Fibrosis ◽  
Laparoscopic Cholecystectomy ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Gallstone Formation ◽  
Definitive Treatment ◽  
Transmembrane Conductance Regulator ◽  
Rare Clinical Entity ◽  
Transmembrane Conductance ◽  
Cystic Fibrosis Transmembrane

Micro-gallbladder is a rare clinical entity and mostly linked with cystic fibrosis (CF), which is an autosomal recessive disease involving a protein Cystic fibrosis transmembrane conductance regulator (CFTR) which regulates secretion and absorption in the pulmonary, reproductive and gastrointestinal systems including the liver. Biliary secretion becomes hyperviscous, leading to cholestasis and partial obstruction of the cystic duct. This causes recurrent cholecystitis and gallstone formation. Ultimately, atrophy of the gallbladder results, thus a ‘micro-gallbladder’ defined as being <2–3 cm in length and 0.5–1.5 cm in width. A shrunken gallbladder from recurrent attacks of gallstone-induced cholecystitis is not typically termed as a micro-gallbladder. Laparoscopic cholecystectomy is definitive treatment for symptomatic micro-gallbladder, even though most cases are managed conservatively without surgery. We report a case of symptomatic micro-gallbladder in a non-CF patient, managed successfully by laparoscopic cholecystectomy.

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