Validation of Persian version of pedsQL[TM] 4.0[TM] generic core scales in toddlers and children

To evaluate the reliability, validity and feasibility of the Persian version of the Pediatric Quality of Life inventory PedsQL[TM] 4.0 [TM] 4.0 Generic Core Scales in Iranian healthy students ages 7-15 and chronically ill children ages 2-18. We followed the translation methodology proposed by developer to validate Persian version of PedsQL[TM] 4.0TM 4.0 Generic Core Scales for children. Six hundred and sixty children and adolescents and their parents were enrolled. Sample of 160 healthy students were chosen by random cluster method between 4 regions of Isfahan education offices and 60 chronically ill children were recruited from St. Alzahra hospital private clinics. The questionnaires were fulfilled by the participants. The Persian version of PedsQL[TM] 4.0TM 4.0 Generic Core Scales discriminated between healthy and chronically ill children [healthy students mean score was 12.3 better than chronically ill children, P<0.001]. Cronbachs' alpha internal consistency values exceeded 0.7 for children self reports and proxy reports of children 5-7 years old and 13-18 years old. Reliability of proxy reports for 2-4 years old was much lower than 0.7. Although, proxy reports for chronically ill children 8-12 years old was more than 0.7, these reports for healthy children with same age group was slightly lower than 0.7. Constructive, criterion face and content validity were acceptable. In addition, the Persian version of PedsQL[TM] 4.0TM 4.0 Generic Core Scales was feasible and easy to complete. Results showed that Persian version of PedsQL[TM] 4.0[TM] 4.0 Generic Core Scales is valid and acceptable for pediatric health researches. It is necessary to alternate scoring for 2-4 years old questionnaire and to find a way to increase reliability for healthy children aged 8-12 years especially, according to Iranian culture

Value of gluten patch test in diagnosis of celiac disease

Celiac disease is an intestinal disorder identified by mucus inflammation, villous atrophy and crypt hyperplasia. This disorder can be controlled by elimination of gluten from daily diet. Patients with celiac disease are at greater risk of gastrointestinal malignancy and non-Hodgkin lymphoma than are the general population. This study tries to present the value of gluten patch test for diagnosis of celiac disease. In this investigation, the study population was divided into case and control groups. The case group consisted of patients with celiac disease. The control group were patients involved in celiac disease but suffering from other gastrointestinal disorders. Both gluten patch and placebo patch were attached to the skin between the scapulas. The results were read twice: 48 hours and 96 hours after the patch was applied. Patients who showed irritation reactions were withdrawn from this study. The results were analysed by SPSS software, Spearman's test, chi square, and Mann-Whitney tests. The value obtained from the gluten patch test after 96 hours are as follows: specification at 95%, sensitivity at 8%, positive prediction value at 67%, and negative prediction value at 43%. It can be concluded that the gluten patch test is not an efficient test for screening of celiac disease, however, it can be useful for diagnosis of celiac disease if employed and studied with clinical symptoms and serologic and biopsy tests. Furthermore, we should doubt our judgment if the result of gluten patch test for the patient with celiac disease is positive

Neutropenia associated with X-linked agammaglobulinemia in an Iranian referral center

X-linked Agammaglobulinemia [XLA] is a hereditary immunodeficiency, characterized by an early onset of recurrent bacterial infections, hypogammaglobulinemia and markedly reduced B lymphocytes number. In order to determine the association of neutropenia among Iranian patients with XLA, hospital records of 30 patients with confirmed XLA in Children Medical Center Hospital, were reviewed. Eight out of 30 XLA patients [26.7%] developed neutropenia during the course of the disease. In two patients, episodes of neutropenia were identified before or at the time of diagnosis of XLA. Other six patients whom were not visited regularly and did not receive periodical immunoglobulin replacement therapy experienced neutropenia after diagnosis of XLA. Neutropenia in XLA is mainly associated with infection and is resolved with intravenous immunoglobulin replacement and antibiotics therapy

Reiter's syndrome in a patient with polyarthritis and nail involvement

An 8-year old boy with polyarthritis and nail involvement is presented in this report. Nail involvement in Reiter's syndrome is a rare condition that may include painless erythematous nduration of the base of the nail fold; subungual parakeratotic scaling and thickening opacification, ridging of the nail plate

Study of alpha1-antitrypsin phenotypes frequencies in patients with primary antibody deficiency

Primary antibody deficiencies are the most frequent primary immunodeficiency disorders. Bronchiectasis as a feature of these disorders may be developed due to some factors such alpha-1-antitrypsin deficiency. In order to determine the prevalence of two common alpha-1-antitrypsin deficiency alleles [PI*Z and PI*S] in Iranian patients with antibody deficiency, this study was performed. The prevalence of PI*M, PI*S, and PI*Z allele combinations was determined in 40 patients with primary antibody deficiency [with and without bronchiectasis] and compared with 60 healthy control subjects. Phenotyping was performed by isoelectric focusing. The phenotype frequencies among patients were as follow: M in 92.5%, S in 2.5% and Z in 5%. There was not any significant difference in distribution of alleles or phenotypes between patients and control subjects. Moreover, no significant difference was found between patients with and without bronchiectasis. We did not find evidence to support an association between alpha-1-antitrypsin phenotypes and primary antibody deficiencies in a small, controlled study. Larger studies will be required to clarify the relationship between alpha-1-antitrypsin genotype and susceptibility to bronchiectasis in patients with antibody deficiency

Assessment of quality of life in Iranian asthmatic children, young adults and their caregivers

Interest in the impact of illness on day to day function is leading investigators to include both disease specific and generic health related quality of life [HR QOL] questionnaires in a broad range of clinical studies and to gain a full picture of the impact of asthma on the lives of children with this condition, it is necessary to make direct measurement of health related quality of life. In response to this need, we used the Juniper's pediatric asthma quality of life questionnaire [PAQLQ] and Juniper's Pediatric Asthma Caregiver's Quality of Life Questionnaire [PACQLQ] that has been developed based on guidelines for construction of over a dozen validated disease specific quality of life instruments. The PAQLQ consists of 23 items that in children with asthma have been identified as troublesome in their daily lives and PACQLQ that contains 13 items in two domains of emotional and activities disturbances. The study design consisted of an 18 month single cohort study. Patients participating in the study were 113 children, 7-17 years of age, with a wide range of asthma severity and their caregivers. For each patient a PAQLQ and for each caregiver a PACQLQ was completed. One week before visit patients recorded morning peak flow rates, medication use and symptoms in a diary. After complete physical examination, for determining of asthma severity, spirometry was performed. The questionnaires after statically analysis showed good levels of both longitudinal and cross sectional correlations with the conventional asthma indices and with general quality of life. We found that consistently QOL in boys were more disturbed than females, a good relevancy between severity of asthma and QOL scores and more disturbances of QOL in caregivers of male asthmatic patients than caregivers of female asthmatic patients. We could not find any significant relevancy between FEV1 percentage of predicted and overall scores of QOL. Smaller airways, and higher airway resistance and more activity of males than females may explain why boys have more disturbed life style than females

Crohn's disease and idiopathic thrombocytopenic purpura in a patient with ectodermal dysplasia and immunodeficiency

In this case report we will describe a rare association between anhyrotic ectodermal dysplasia [AED] and immunodeficiency and autoimmunity [in our case: Idiopathic Thrombocytopenic Purpura [ITP] and Crohn disease]. AED is a rare congenital disorder characterized by sparse hair, abnormal teeth and anhidrosis due to lack of eccrine glands. The survey of 87 cases with [AED] revealed only one Irritable Bowel Disease [IBD]. AED has only two relevancies with immunodeficiency: [EDA-ID: Ectodermal Dysplasia Anhyrotic with Immunodeficiency] and APE-CED [Autoimmune polyendocrinopathy, Candidiasis and Ectodermal Dysplasia] that in our case EDA-ID is strongly suspected

DNA banking of primary immunodeficiency disorders in Iran

Primary immunodeficiency disorders are a heterogeneous group of genetic disorders, with different modes of inheritance, consisting of more than 100 different types. We constructed the DNA banking of primary immunodeficiency disorders for the first time in Iran. The DNA of 31 immunodeficient patients and their families [total of 92 samples] were collected, as the first step for construction of DNA banking. DNA was isolated from whole blood by salting out method. Among our patients, Common variable immunodeficiency was the most common disorder, followed by X-linked agammaglobulinemia, Ataxia-telangiectasia, Chronic granulomatous disease, Severe combined immunodeficiency, Hyper IgM syndromes, and Leukocyte adhesion defects. DNA banking is a useful method for further detection of mutation in immunodeficient patients and prenatal diagnosis for presence or absence of the disorder in the fetus which can be confirmed by molecular genetics testing

Congenital sensory neuropathy as a differential diagnosis for phagocytic immunodeficiency

There are few reports about congenital indifference to pain or Hereditary and Sensory Autonomic Neuropathy [HSAN]. Several investigations for pathophysiology of this syndrome have been performed and different classifications about it. In this report we present a case of HSAN type II with general absence of pain and self amputations and leprosy-like damage of extremities which was suspected to be phagocytic immunodeficiency due to past history of repeated ulcer and abscess formation