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1.
Minerva Pediatr ; 60(3): 361-4, 2008 Jun.
Article in English | MEDLINE | ID: mdl-18487984

ABSTRACT

Computed tomography is an important imaging modality in the evaluation of hydatid cyst. However, diagnosis of perforated hydatid cyst is very difficult and for this reason some radiological findings have been defined. An important finding is the ''air bubble'' sign. As a consequence of cyst rupture, secondary bacterial infections like bronchopneumonia or lung abscess may develop which complicate the clinical picture further. In the literature, the ''air bubble'' sign which is a relatively newly discovered radiological sign is reported to be very sensitive in establishing diagnosis. For this reason, in suspected cases of hydatid cyst, the air bubble sign may aid physicians in establishing diagnosis.


Subject(s)
Echinococcosis, Pulmonary/diagnostic imaging , Tomography, X-Ray Computed , Adolescent , Child, Preschool , Echinococcosis, Pulmonary/complications , Female , Humans , Male , Rupture, Spontaneous
2.
Minerva Pediatr ; 59(1): 29-34, 2007 Feb.
Article in English | MEDLINE | ID: mdl-17301722

ABSTRACT

AIM: The aim of this study was to compare the effects of dental treatments on respiratory functions in moderate asthmatic children in comparison to healthy controls as well as to determine the need for bronchodilatator treatment before dental procedures. METHODS: Twenty-six children with moderate asthma aged between 7-14 years who had peak expiratory flowmeter (PEF) values above 80% were selected for the study group. Control group consisted of 28 healthy children of the same age group. Before dental procedures, patients' dental anxiety levels were scored with Corah's Dental Anxiety Scale. The asthmatic group had their dental treatments in 2 sessions. At the first appointment, they were treated without administering a bronchodilatator therapy. After 2 weeks, at the second appointment the children administered bronchodilatator therapy before their dental treatments. PEF values were recorded in both asthmatic groups and in control group prior to, just after and 30 min after dental therapy. RESULTS: PEF values in asthmatic patients recorded just after dental treatment were significantly lower than control group (P<0.05). When we compared the asthmatic groups who received and who did not receive bronchodilatator treatment, a statistically significant difference was found between PEF values before, just after and 30 min after dental treatment in who didn't receive bronchodilatator treatment (P<0.05). CONCLUSIONS: Administration of bronchodilatator treatment as a premedication before dental procedures may be useful in asthmatic patients.


Subject(s)
Asthma/drug therapy , Asthma/epidemiology , Bronchodilator Agents/therapeutic use , Dental Anxiety/epidemiology , Respiration Disorders/epidemiology , Adolescent , Child , Dental Anxiety/diagnosis , Dental Anxiety/psychology , Female , Humans , Male , Peak Expiratory Flow Rate/physiology , Respiration Disorders/diagnosis , Respiration Disorders/physiopathology , Severity of Illness Index
3.
Minerva Pediatr ; 58(6): 571-4, 2006 Dec.
Article in English | MEDLINE | ID: mdl-17093379

ABSTRACT

Thalassaemia major is a severe chronic hemolytic disease, resulted with iron overload mainly due to regular blood transfusions. Iron overload may lead to serious organ toxicity and even fatal complications, if no iron excretion is achieved by a chelating agent. First introduced in 1976 as s.c. treatment for thalassaemia major, desferrioxamine (DFO) has substantially improved the life expectancy in the disease. While DFO can cause local allergic reactions including redness, itching, pain and lumps, on rare occasion anaphylactic reactions can occur. The mechanism of anaphylaxis like reactions is not well understood. In this case report, we presented a 10 years-old girl with thalassaemia major who had to stop DFO therapy after appearing of systemic allergic reactions with hypotension, tachycardia, pruritus and urticaria against this drug. Serum IgE level was normal, specific IgE and skin prick tests were negative. Intradermal test was resulted with positive reaction to DFO. The patient was hospitalized and desensitization protocol was initiated with rapid s.c. infusions per 15 min. The protocol was stopped at the 17th cycle because of local reaction reappeared. After that, DFO was further diluted and was restarted with lower dosage and longer infusion period. Then, DFO dosage was increased and the dilutions and infusion times were decreased gradually. By this desensitization programme, the patient would continue to use DFO chelation safely for 10 months.


Subject(s)
Deferoxamine/adverse effects , Desensitization, Immunologic/methods , Drug Hypersensitivity/etiology , Drug Hypersensitivity/therapy , Siderophores/adverse effects , beta-Thalassemia/drug therapy , Child , Deferoxamine/administration & dosage , Deferoxamine/immunology , Deferoxamine/therapeutic use , Drug Hypersensitivity/diagnosis , Female , Humans , Siderophores/administration & dosage , Siderophores/immunology , Siderophores/therapeutic use , Skin Tests , Time Factors , beta-Thalassemia/complications
4.
Minerva Pediatr ; 58(6): 583-5, 2006 Dec.
Article in English | MEDLINE | ID: mdl-17093382

ABSTRACT

Temporary henna tattoo, which has become popular among young people, is obtained from the mixture of the plants Lawsonia alba or Lawsonia inermis and paraphenylenediamine (PPD). In forming reactions frequent development of anti-PPD substance is noticed. A 13-year old boy who started itching, erythema, enduration on the application area, increasingly urticarial rash, conjunctivitis and swelling of the lips 48 h after being applied the temporary henna tattoo was hospitalized. He had a local reaction to henna tattoo when he was 5-year old. He was treated with parenteral corticosteroids and oral antihistaminic drugs. Skin reactions persisted for 18 days. The patient showed no early reaction to henna 10% and PPD 1% concentration in saline solution but did late reaction (after 48 h) to PPD in diameter of 12x13 mm in prick test in 3 weeks after the reaction. A case who developed angioneurotic edema and urticaria to temporary henna tattoo noticed that the henna tattoo is not an innocent application and young people need to be informed on this subject.


Subject(s)
Angioedema/chemically induced , Coloring Agents/adverse effects , Hypersensitivity, Delayed/chemically induced , Naphthoquinones/adverse effects , Tattooing/adverse effects , Tuberculin/adverse effects , Urticaria/chemically induced , Administration, Oral , Adolescent , Adrenal Cortex Hormones/administration & dosage , Adrenal Cortex Hormones/therapeutic use , Angioedema/diagnosis , Drug Combinations , Female , Histamine Antagonists/administration & dosage , Histamine Antagonists/therapeutic use , Humans , Hypersensitivity, Delayed/diagnosis , Infusions, Parenteral , Male , Naphthoquinones/administration & dosage , Skin Tests , Time Factors , Treatment Outcome , Tuberculin/administration & dosage , Urticaria/diagnosis
5.
Minerva Pediatr ; 58(3): 319-24, 2006 Jun.
Article in English | MEDLINE | ID: mdl-16832339

ABSTRACT

Invasive pulmonary aspergillosis is a serious infectious complication in immunocompromised especially neutropenic patients. Despite improvements in early diagnosis and effective treatment, invasive pulmonary aspergillosis is still a devastating opportunistic infection. These infections also interfere with the anticancer treatment. We report our experience in the diagnosis and therapeutic management of sinopulmonary aspergillosis in 4 children with hematologic malignancy. All patients except the first were neutropenic when sinopulmonary aspergillosis was diagnosed. Clinical signs included fever, cough, respiratory distress, swallowing difficulty, headache, facial pain-edema and hard palate necrosis. Radiodiagnostic methods showed bilateral multiple nodular infiltrations, soft tissue densities filling all the paranasal sinuses, and bronchiectasis. Diagnosis of aspergillosis was established by bronchoalveolar lavage in one case, tissue biopsy, positive sputum and positive cytology, respectively, in the other 3 cases. One patient was treated with liposomal amphotericin B and other 3 cases were treated with liposomal amphotericin B + itraconozole. Outcome was favorable in all cases except the one who died due to respiratory failure. Early diagnosis, appropriate treatment and primary disease status are important factors on prognosis of Aspergillus infections in children with hematological malignancy.


Subject(s)
Aspergillosis , Burkitt Lymphoma/complications , Leukemia, Myeloid/complications , Lung Diseases, Fungal , Precursor Cell Lymphoblastic Leukemia-Lymphoma/complications , Acute Disease , Adolescent , Amphotericin B/administration & dosage , Amphotericin B/therapeutic use , Antifungal Agents/administration & dosage , Antifungal Agents/therapeutic use , Aspergillosis/diagnosis , Aspergillosis/diagnostic imaging , Aspergillosis/drug therapy , Child , Drug Therapy, Combination , Female , Humans , Immunocompromised Host , Itraconazole/administration & dosage , Itraconazole/therapeutic use , Lung Diseases, Fungal/diagnosis , Lung Diseases, Fungal/diagnostic imaging , Lung Diseases, Fungal/drug therapy , Male , Prognosis , Radiography, Thoracic , Time Factors , Tomography, X-Ray Computed
6.
J Investig Allergol Clin Immunol ; 13(3): 177-80, 2003.
Article in English | MEDLINE | ID: mdl-14635467

ABSTRACT

BACKGROUND: Immunotherapy, which has been used since the beginning of this century, has potential adverse reactions. The purpose of this study was to evaluate immediate local and systemic reactions to allergen immunotherapy and to compare rates of adverse reactions to aluminum-adsorbed versus calcium-adsorbed allergen vaccines. METHODS: 108 cases (38 girls and 70 boys) were given allergen immunotherapy between 1997 and 2001. The following data were recorded for each patient: primary disease being treated (allergic rhinitis, asthma, or allergic rhinitis and asthma), allergic sensitivities (dust mite or grass pollen), number of injections, the stage of immunotherapy (buildup or maintenance), dilution of allergen vaccine, and type of allergen vaccine (calcium- or aluminum-adsorbed). Adverse reactions were classified as systemic or local. Local reactions were classified as hyperemia and induration less than 5 cm, more than 5 cm, itching, and pain. RESULTS: 4783 injections were evaluated in 108 subjects with allergic rhinitis (44%), asthma (40%), allergic asthma, and rhinitis (16%). Frequency of immediate systemic reaction was 0.13%. Frequency of immediate local reactions were: hyperemia and induration less than 5 cm 3%, greater than 5 cm 0.16%, local itching 0.15%, and local pain 0.2%. There was no significant difference in systemic and local reactions between calcium- and aluminum-adsorbed vaccines. Immediate local reactions were more frequent during maintenance therapy compared to buildup. Subjects were more likely to have local reactions during maintenance therapy if they had allergic rhinitis (p < 0.05) or were receiving grass pollen vaccine (p < 0.01). CONCLUSION: Immediate adverse reactions were uncommon when given to children with asthma and allergic rhinitis. Aluminium- and calcium-adsorbed allergen vaccines showed similar rates of systemic and local reactions.


Subject(s)
Asthma/therapy , Desensitization, Immunologic/adverse effects , Hypersensitivity, Immediate/etiology , Rhinitis, Allergic, Perennial/therapy , Adolescent , Age Distribution , Asthma/immunology , Child , Cohort Studies , Desensitization, Immunologic/methods , Female , Humans , Hypersensitivity, Immediate/epidemiology , Incidence , Male , Patch Tests , Probability , Retrospective Studies , Rhinitis, Allergic, Perennial/immunology , Risk Assessment , Severity of Illness Index , Sex Distribution , Statistics, Nonparametric
7.
Pediatr Allergy Immunol ; 12(5): 266-73, 2001 Oct.
Article in English | MEDLINE | ID: mdl-11737673

ABSTRACT

Successful management of asthma requires good communication between patients and the healthcare team. The background and expectations of a patient inevitably influence the success of any partnership. A questionnaire-based survey was performed to obtain data on the perception of the impact of asthma in daily life among children (age-range 6-14 years) and adolescents (age-range 15-20 years). A total of 756 patients (384 children, 372 adolescents) were randomly selected from 11 Turkish cities and interviewed face-to-face. Of the total study population, 71.3% received regular follow-up and 75.9% currently took asthma medication. Almost 50% reported that asthma affected their lives significantly. Even though half of the patients had symptoms at least once a week, one-third were not receiving regular prophylactic treatment. Exercise produced asthma symptoms in 45.5% of children and 27.4% of adolescents. The finding that asthma continues to be a major health problem clearly indicates an urgent need for further management programs in Turkey.


Subject(s)
Asthma/psychology , Perception , Adolescent , Adult , Asthma/drug therapy , Attitude to Health , Child , Child Welfare , Female , Follow-Up Studies , Humans , Male , Quality of Life , Surveys and Questionnaires , Treatment Outcome , Turkey/epidemiology
8.
J Investig Allergol Clin Immunol ; 11(3): 188-92, 2001.
Article in English | MEDLINE | ID: mdl-11831452

ABSTRACT

The lung permeability of asthmatic children has been reported to be similar, lower, or higher than that of healthy subjects. The aim of this study was to clarify these discrepancies and also assess the effect of inhaled steroids on lung permeability. Tc99m-diethylenetriaminepentaaceticacid (Tc99m-DTPA) clearance in children with mild unstable asthma (n = 13; mean age 9.3 +/- 0.7 years) was compared with that of a group of healthy subjects (n = 11; mean age 8.9 +/- 0.8 years). Symptom scores, forced-expiratory volume in the first second (FEV1), and peak expiratory flow rate variability (PEFR-v) of asthmatics were recorded and an inhaled steroid (budesonid) was recommended after first scintigraphic evaluation for 8 weeks. Two consecutive scintigraphic studies were performed before and after treatment. Symptoms, FEV1, and PEFR-v significantly improved throughout the study. Baseline DTPA clearance rate in the asthmatics was significantly higher from that of control group (1.3 +/- 0.2 and 0.7 +/- 0.1%/min, respectively) (p < 0.05). DTPA clearance rate of asthmatics significantly increased to 1.7 +/- 0.3%/min at end of inhaled therapy (p < 0.05). Our data show that DTPA clearance in unstable asthmatic children is significantly higher than that found in healthy subjects, and that a higher rate was obtained following inhaled steroid therapy. Thus, the clinical significance of these observations needs further studies to test whether DTPA clearance index is a valid tool for monitoring asthmatic children and to explore the mechanisms involved in radioaerosol clearance rates in pediatric asthma.


Subject(s)
Asthma/diagnostic imaging , Asthma/drug therapy , Budesonide/administration & dosage , Lung/drug effects , Lung/diagnostic imaging , Technetium Tc 99m Pentetate , Administration, Inhalation , Adolescent , Asthma/physiopathology , Bronchodilator Agents/administration & dosage , Child , Epithelium/diagnostic imaging , Epithelium/drug effects , Epithelium/physiopathology , Female , Forced Expiratory Volume/drug effects , Glucocorticoids/administration & dosage , Humans , Lung/physiopathology , Male , Peak Expiratory Flow Rate/drug effects , Permeability/drug effects , Radionuclide Imaging , Radiopharmaceuticals
9.
Allergy Asthma Proc ; 21(6): 361-5, 2000.
Article in English | MEDLINE | ID: mdl-11191102

ABSTRACT

The aim of this study was to evaluate the effect of inhaled steroid therapy on the distribution of inhaled Tc-99m DTPA in asthmatic children. Twenty-one asthmatic children and 15 healthy controls were entered in this study. The distribution of radioaerosols was scored by using a modified standardized score system over both lungs and expressed as homogeneity score/patient. The baseline homogeneity score was calculated before the inhalation therapy of budesonide (400 micrograms/day) for six months. The homogeneity score was repeated at the end of the second and sixth months of therapy. Asthmatic symptom scores and peak-flow rate variability, which were observed to improve throughout the study, were also recorded. Although homogeneity scores of the controls demonstrated no abnormality, mean baseline homogeneity scores of asthmatics was significantly high, 1.7 +/- 0.4/patient, and decreased to 0.6 +/- 0.2 and 0.3 +/- 0.1/patient at the end of second and sixth months, respectively (p < 0.05). These results revealed significant improvement in the radioaerosol distribution after inhaled steroid therapy. It was concluded that the lack of homogeneity in the distribution of Tc99m-DTPA in the lung, as an indicator for ventilation defects, may be accepted as a useful, noninvasive tool to monitor the efficacy of the therapy with inhaled agents in childhood asthma.


Subject(s)
Anti-Inflammatory Agents/therapeutic use , Asthma/drug therapy , Budesonide/therapeutic use , Lung/physiology , Radiopharmaceuticals/pharmacokinetics , Technetium Tc 99m Pentetate/pharmacokinetics , Administration, Inhalation , Adolescent , Asthma/metabolism , Child , Female , Humans , Lung/diagnostic imaging , Lung/pathology , Male , Peak Expiratory Flow Rate , Radionuclide Imaging , Radiopharmaceuticals/administration & dosage , Technetium Tc 99m Pentetate/administration & dosage
10.
Turk J Pediatr ; 42(4): 348-51, 2000.
Article in English | MEDLINE | ID: mdl-11196759

ABSTRACT

Bronchial atresia (BA) is a rare respiratory malformation that may be diagnosed from infancy to adulthood. A typical feature of the disease is involvement of the left upper lobe and a mass-like lesion surrounded by a hyperlucent and nondeflating zone. We present a six-month-old male infant who was diagnosed by contrast-enhanced spiral computed tomography (CT) with three-dimensional (3D) technology, and by Tc-99m-macroalbumin aggregate (Tc99m-MAA) radionuclide scintigraphy. We stress that early diagnosis of BA can be made noninvasively using contrast-enhanced spiral CT and radionuclide scintigraphy. 3D computed tomographic reformation allows a more accurate diagnosis as well as a more specific approach to management and follow-up.


Subject(s)
Bronchi/abnormalities , Bronchi/diagnostic imaging , Bronchography/methods , Humans , Infant , Male , Radionuclide Imaging , Sulfhydryl Compounds , Technetium Tc 99m Aggregated Albumin , Tomography, X-Ray Computed/methods
11.
Article in English | MEDLINE | ID: mdl-10582199

ABSTRACT

Sublingual immunotherapy has been suggested for the treatment of respiratory allergies. Many controversial studies have been reported on the efficacy of sublingual immunotherapy. The aim of this prospective study was to evaluate whether sublingual immunotherapy was effective according to clinical and laboratory results in pediatric allergies. Thirty-nine allergic, grass pollen sensitive children were admitted into the study. Sublingual immunotherapy was given over a 12-month period to 21 children (mean age 10.5 +/- 3.3 years), 10 of whom had seasonal allergic rhinitis and 11 seasonal allergic asthma. During the same period, 18 children (mean age 11.1 +/- 2.5 years), 10 with seasonal allergic rhinitis and eight with seasonal allergic asthma, received placebo. Symptom scores and drug requirements were recorded and urine samples were collected to detect urinary levels of leukotrienes (Uc-LTB4 and Uc-LTE4). In patients who received sublingual immunotherapy, the symptom scores of seasonal allergic rhinitis significantly decreased, but no statistically significant changes were observed in terms of symptoms of seasonal allergic asthma. Uc-LTE4 and Uc-LTB4 levels of seasonal allergic rhinitis, with a geometric mean and 95% confidence interval (CI), were significantly decreased from 216 (103-464) and 61 (22-198) pmol/mmol creatinine to 78 (29-159) and 35 (12-118) pmol/mmol creatinine, respectively (p < 0.05 and p < 0.05). On the other hand, Uc-LTE4 and Uc-LTB4 levels for seasonal allergic asthma were 180 (92-355) and 78 (44-258) pmol/mmol creatinine and decreased to 156 (72-402) and 69 (32-254) pmol/mmol creatinine, respectively. These changes were not statistically significant (p > 0.05). According to our clinical results and urinary levels of leukotrienes, which are mediators showing the severity of allergic inflammation, it can be suggested that sublingual immunotherapy may be useful in the treatment of seasonal allergic rhinitis but not of seasonal allergic asthma.


Subject(s)
Asthma/therapy , Asthma/urine , Immunotherapy , Leukotriene B4/urine , Leukotriene E4/urine , Rhinitis, Allergic, Seasonal/therapy , Rhinitis, Allergic, Seasonal/urine , Administration, Sublingual , Adolescent , Analysis of Variance , Asthma/physiopathology , Child , Female , Humans , Immunotherapy/methods , Male , Plant Extracts/administration & dosage , Poaceae/immunology , Pollen/immunology , Prospective Studies , Rhinitis, Allergic, Seasonal/physiopathology
12.
Acta Paediatr Jpn ; 38(6): 606-10, 1996 Dec.
Article in English | MEDLINE | ID: mdl-9002294

ABSTRACT

Bronchial asthma is the most common chronic respiratory illness in childhood. It is characterized by paroxysmal bronchospastic periods. There are many studies giving reasons to explain the bronchospasm periods. One of the reasons, atmospheric conditions, is effective in creating a clinical picture of asthmatic patients. In the present study, the correlation between atmospheric conditions and asthmatic symptoms in children was investigated using peak expiratory flow rate (PEFR) as the respiratory function test. Twenty-one children with bronchial asthma were monitored in the study. They were followed as outpatients of the Ege University Medical Faculty, Department of Pediatric Allergy and Pneumotology, between November 1993 and June 1994. Atmospheric conditions were recorded from the local meteorology center. Complaints and the PEFR of children were compared with the meteorological data. Asthmatic symptoms were increased by low temperatures in all asthmatic children. An increase was detected in the extrinsic group by relative humidity and ratio of cloud, but in the intrinsic group only by relative humidity.


Subject(s)
Asthma/etiology , Peak Expiratory Flow Rate , Weather , Adolescent , Asthma/physiopathology , Child , Child, Preschool , Female , Humans , Humidity , Male , Seasons
13.
J Trop Pediatr ; 42(4): 233-6, 1996 08.
Article in English | MEDLINE | ID: mdl-8816036

ABSTRACT

Conjunctival and nasopharyngeal samples were collected from 51 infants aged 1 month-1 year, who have been hospitalized for lower respiratory tract disease which had begun on the 4-12th week of life and has shown recurrences since then. Acute period blood samples were available from 42 of these children. Chlamydia trachomatis antigen was searched for in the conjunctival and nasopharyngeal specimens by a direct fluorescence test (MikroTrak, Syva Co.), and serum anti-chlamydial IgM antibodies were detected by enzyme immunoassay (Sero ELISA Chlamydia, Savyon Diagnostics). Chlamydia trachomatis was detected from at least one site in 20 children, and 15 children were positive for anti-chlamydial IgM antibodies. Serum samples were available in 16 of 20 children who were positive for C. trachomatis antigens, and 12 had IgM antibodies. Three infants who were antigen negative, also had anti-chlamydial antibodies. Whether antigen positive or not, all patients with antichlamydial antibodies were considered to have pneumoniae due to C. trachomatis, and those who had only antigens without any antibodies, to be superficially infected and carry the organism symptomatically or asymptomatically.


Subject(s)
Chlamydia Infections/microbiology , Chlamydia trachomatis , Conjunctivitis, Bacterial/microbiology , Infectious Disease Transmission, Vertical , Nasopharyngeal Diseases/microbiology , Pneumonia/microbiology , Antibodies, Bacterial/blood , Chlamydia Infections/immunology , Chlamydia Infections/transmission , Chlamydia trachomatis/immunology , Female , Humans , Immunoglobulin M/blood , Infant , Infant, Newborn , Male , Pneumonia/diagnostic imaging , Radiography
14.
Turk J Pediatr ; 38(2): 169-75, 1996.
Article in English | MEDLINE | ID: mdl-8701480

ABSTRACT

Inhalation therapy with magnesium sulfate and salbutamol sulfate was applied to two groups, each consisting of 20 patients with acute asthma. The effects of inhaled magnesium sulfate and salbutamol sulfate were compared. The evaluation of patients was done using respiratory score, peak expiratory flow rate with a Wright peak flow meter, respiration rate, heart rate and blood pressure. Although magnesium sulfate's bronchodilating effect continued for approximately one hour, treatment of acute asthma using salbutamol sulfate inhalation was found to be more successful and its effect continued for six hours.


Subject(s)
Albuterol/administration & dosage , Asthma/drug therapy , Bronchodilator Agents/administration & dosage , Magnesium Sulfate/administration & dosage , Administration, Inhalation , Asthma/physiopathology , Child , Chronic Disease , Hemodynamics/drug effects , Humans , Pulmonary Ventilation/drug effects
16.
APMIS ; 102(11): 877-80, 1994 Nov.
Article in English | MEDLINE | ID: mdl-7833009

ABSTRACT

Respiratory syncytial virus (RSV) infection was searched for in 65 children between 2 months and 2 years of age hospitalized with the presumptive diagnosis of acute bronchiolitis, and in 35 children aged 6 months to 8 years with upper respiratory tract symptoms, by direct fluorescent antibody (DFA) test and cell culture. RSV infection was detected in 29.2% of the first and in 11.4% of the second group. The overall positivity rate was 23%. The sensitivity and the specificity of the commercially available DFA test in comparison with cell culture were 81.8% and 92.5%, respectively.


Subject(s)
Respiratory Syncytial Virus Infections/diagnosis , Child , Child, Preschool , Evaluation Studies as Topic , Female , Fluorescent Antibody Technique , Humans , Infant , Male , Respiratory Syncytial Virus Infections/epidemiology , Respiratory Syncytial Viruses/isolation & purification , Seasons , Sensitivity and Specificity , Turkey/epidemiology
17.
Ann Genet ; 36(3): 144-9, 1993.
Article in English | MEDLINE | ID: mdl-8117058

ABSTRACT

The cystic fibrosis (CF) gene was recently cloned and a three basepair deletion removing phenylalanine 508 from the coding region was identified as the mutation on the majority of cystic fibrosis chromosomes. The frequency of this mutation varies among different geographic locations. In this study we analysed 25 Turkish families and have found the relative frequency of the delta F508 (DF508) mutation to be 20.37%. This is similar to that reported in other Middle Eastern countries and contrasts with the considerably higher frequencies encountered in Northern Europe and North America. Molecular analysis of the two nucleotide binding folds (NBFs) of the cystic fibrosis transmembrane conductance regulator (CFTR) gene with direct sequencing, has also shown that the other defined mutations in these regions of the gene do not occur in the CF patients from the Turkish population. One patient presenting with severe clinical features was determined to be a compound heterozygote for the mutations delta F508/1677delTA.


Subject(s)
Chromosomes, Human, Pair 7 , Cystic Fibrosis/genetics , Exons/genetics , Mutation/genetics , Alleles , Base Sequence , Female , Humans , Male , Molecular Sequence Data , Polymorphism, Genetic , Sequence Analysis, DNA , Turkey
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