ABSTRACT
Background: X-linked agammaglobulinemia (XLA) is characterized by absent or severely reduced B cells, low or undetectable immunoglobulin levels, and clinically by extracellular bacterial infections which mainly compromise the respiratory tract. We aimed to analyze the clinical, immunological and genetic characteristics of 22 male children with XLA. Methods: Twenty-two children with XLA from 12 unrelated families were enrolled in this study. Clinical and demographic features of patients, serum immunoglobulin levels, percentage of B cells and BTK gene mutations were reviewed retrospectively. Results: We identified 12 different mutations in 22 patients from 12 unrelated families. The most frequent type of mutation was premature stop codon (33.3%). Ten mutations had been reported previously including three missense mutations (c.1774T>C, c.1684C>T, c.83G>T), three premature stop codons (c.1558C>T, c.1573C>T, c.753G>A), two splice-site (c.683-1G>A, c.1567-12_1567-9delTTTG) and two small nucleotide deletions (c.902-904_delAAG, c.179_181delAGA). Two novel mutations of the BTK gene were also presented and included one splice-site mutation (c.391+1G>C) and one premature stop codon mutation (c.1243_1243delG). Six out of 12 mutations of the BTK gene were located in the SH1 domain, two in the PH domain, two in the SH3 domain and two in the SH2 domain. Three patients had a history of severe infection before diagnosis. We did not identify any correlation between severity of clinical symptoms and the genotype. Conclusions: Our results show that mutations in southeast Turkey could be different from those in the rest of the world and molecular genetic tests are an important tool for early confirmed diagnosis of XLA
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Subject(s)
Humans , Male , Child, Preschool , Child , Adolescent , Young Adult , Agammaglobulinemia/genetics , Genetic Diseases, X-Linked/genetics , Genotype , Mutation/genetics , Agammaglobulinemia/physiopathology , Disease Progression , Genetic Association Studies , Genetic Diseases, X-Linked/physiopathology , Genetic Predisposition to DiseaseABSTRACT
BACKGROUND: Atopic dermatitis (AD) is most common in the first year of life. The aim of this study was to determine the prevalence of and risk factors for AD in a birth cohort of infants from southeast Turkey. METHODS: Adana Paediatric Allergy Research (ADAPAR) birth cohort study was derived from 1377 infants who were born in Cukurova University, Medical Hospital, Adana, Turkey between February 2010 and February 2011. At birth, a physical examination was performed, cord blood samples were taken, and the mother completed a baseline questionnaire that provided data on gestational conditions, family history of allergic diseases and environmental exposures. Follow-up visits scheduled at 3, 6, and 12 months included an infant physical examination and an extended questionnaire. Skin prick test was performed and food-specific IgE levels were measured at 6 and 12 months. Atopic dermatitis was diagnosed based on confirmatory examination by a physician. RESULTS: Of the 1377 infants enrolled, 59 (4.3%) were diagnosed with AD as of 12 months. Maternal allergic disease (ORs 6.28, 95% CI 1.03-38.30; p = 0.046), maternal infection during gestation (ORs 3.73, 95% CI 1.25-11.09; p = 0.018), and presence of food allergy (ORs 13.7, 95% CI 3.07-61.0; p = 0.001) were identified as risk factors for AD. Breastfeeding and cord blood IgE levels were not identified as risk factors. CONCLUSIONS: In this cohort we found prevalence of AD as 4.3% during the first year of life. Positive family history of atopic diseases, prenatal infections and presence of food allergy are the risk factors for early presentation of AD
No disponible
Subject(s)
Humans , Male , Female , Pregnancy , Infant, Newborn , Infant , Dermatitis, Atopic/diagnosis , Dermatitis, Atopic/etiology , Dermatitis, Atopic/pathology , Fetal Blood , Food Hypersensitivity/diagnosis , Food Hypersensitivity/prevention & control , Food Hypersensitivity/therapy , Risk Factors , Breast Feeding/instrumentation , Breast Feeding/methods , Physical Examination/instrumentation , Physical Examination/methods , Physical Examination , Milk Hypersensitivity/diagnosis , Milk Hypersensitivity/immunology , Infant, Newborn, Diseases , Infant, Newborn , Cohort Studies , TurkeyABSTRACT
This double-blind study was performed on 10 aged insomniac patients who received, during 15 days, either triazolam (0.25 mg) or zopiclone (7.5 mg) at bed time. This in-patient period was bounded by two ambulatory periods of 5 days each, and two in-patient periods of 3 days each, during which the patients received a placebo tablet at bed time. Thirteen sleep recordings per patient were performed before (3 nights), upon initiation of active treatment (3 nights), at the end of the active treatment period (3 nights) and during the following 3 "withdrawal" nights. A clear improvement of sleep patterns was observed with both drugs, although opposite effects on delta sleep were observed, namely a decrease with triazolam and an increase with zopiclone. A carry-over effect of the enhancement of delta sleep by zopiclone took place during the first 3 withdrawal nights. As is well known, sleep problems become increasingly common with age. Epidemiological studies show that although they only represent 11% of the population. Americans over 60 years old are prescribed about 40% of sleeping pills (Mendelson, 1980). Disturbed sleep in this population is often associated with medical disorders or induced by drugs like beta-adrenergic blockers. It must be admitted, however, that, possibly due to the association with medical or situational problems there have been only few attempts to assess the efficiency of hypnotic drugs in elderly insomniac patients. These are the reasons why in this study the effectiveness of zopiclone was compared to that of triazolam in insomniac patients aged over 60 years.(ABSTRACT TRUNCATED AT 250 WORDS)
Subject(s)
Delta Rhythm/drug effects , Electroencephalography/drug effects , Hypnotics and Sedatives , Piperazines/therapeutic use , Sleep Initiation and Maintenance Disorders/drug therapy , Sleep Stages/drug effects , Triazolam/therapeutic use , Aged , Aged, 80 and over , Arousal/drug effects , Azabicyclo Compounds , Double-Blind Method , Female , Humans , Male , Middle Aged , Piperazines/adverse effects , Randomized Controlled Trials as Topic , Substance Withdrawal Syndrome/etiology , Triazolam/adverse effectsABSTRACT
Although the real dental treatment needs of the elderly has been established, the costs for these needs has not been determined. This report compares dental services and costs required for older adults living in three different resident settings. Dental needs and costs have been evaluated from a sample of 305 aged persons living in nursing homes (N = 156), low-cost housing facilities (N = 79) or dependent on home care services (N = 70). This study indicates that the homebound or institutionalized elderly population presents with poor dental and periodontal conditions, a high rate of edentulousness, and inadequate dentures. Dental needs are essentially characterized by the repair or replacement of prosthesis, the screening and treatment of mucosal lesions of prosthetic origin, and scaling/curettage of remaining teeth. The average rehabilitative dental costs was Can. $720 and there was no difference between the three types of residence. Important differences in cost, however, were observed between the dentate and edentulous population. The F-test (P less than .05) and chi-square were used to analyze differences in dental treatment needs and costs between different residences. Maintenance care corresponds to Can. $80/year/person.
