Three novel mutations in CYBA among 22 Iranians with Chronic granulomatous disease.

Chronic granulomatous disease (CGD) is a rare primary immunodeficiency caused by defect in one of the components of nicotinamide adenine dinucleotide phosphate (NADPH)-oxidase enzyme. The enzyme is at least composed of membrane-bound subunits gp91-phox and p22-phox (also named cytochrome b558 ), and cytosolic ones p40-phox, p47-phox and p67-phox. A defect in the enzyme activity leads to impaired intracellular killing of phagocytic cells. The CYBA gene encoding p22-phox is located on chromosome 16q24. In this study, new genetic changes of CYBA gene in 22 Iranian patients with autosomal recessive-CGD (AR-CGD) were identified. Twenty-two patients with CGD were referred to Immunology, Asthma and Allergy Research Institute (IAARI) and enrolled in this study based on defect in NADPH oxidase activity, demographic data and clinical histories. All patients had p22-phox deficiency based on Western blotting. Genomic DNA was extracted from peripheral blood mononuclear cells (PBMCs), and PCR followed by direct sequencing was performed to find p22-phox mutations. Mutation analysis of CYBA revealed 12 different mutations, including three novel mutations: one was deletion of exon 1, and two were point mutations in exon 3 (c.136G>A (p.Gly46Ser)), and exon 6 (c.388C>T (p.Gln130X)). Three new mutations of CYBA gene in four of 22 Iranian patients with AR-CGD were found. These three novel mutations can partly complete the database of Human Gene Mutation Database (HGMD) and other related ones. It can also be helpful for further prenatal diagnosis in the affected families. Given that currently bone marrow transplantation is considered to be the curative treatment for patients with CGD, finding mutations will also be useful for timely decision-making in bone marrow transplantation.

Ankyloglossia and tongue mobility.

AIM: Ankyloglossia or tongue-tie is a congenital condition of newborns when the inferior lingual fraenulum is too short and is attached to the tip of the tongue limiting its movement. The aim of this study was to evaluate the relationship between ankyloglossia classification and tongue mobility. In addition, the prevalence of ankyloglossia among males and females was assessed. METHODS: 300 subjects (150 boys and 150 girls) with an age range of 7-12 years were randomly selected from different schools. The distance between the uppermost point of lingual fraenulum and its insertion into the oral floor was measured in the subjects. The subjects were categorised from having no ankyloglossia to severe tongue-tie based on the measurements. RESULTS AND CONCLUSION: This study showed that ankyloglossia was more common in males. It also showed that only subjects with a lingual fraenulum of <1.5 cm suffered from inadequate tongue movement.

Enoxaparin for the treatment of recurrent aphthous stomatitis: a pilot exploratory clinical trial.

AIM: Low molecular weight derivatives of heparin have been recently suggested for the treatment of different diseases including oral lichen planus (OLP) due to their effectiveness and limited side effects. However, no studies have concerned the effectiveness of these agents in the treatment of recurrent aphthous stomatitis (RAS). The present study then aimed to assess this effectiveness in vivo. METHODS: Included were 30 RAS patients consecutively referred to our centers without any systemic diseases. The ulcers were examined in terms of size and number. Recurrence intervals were recorded by the patients. 1 U/0.002 mL enoxaparin was injected subcutaneously (3 mg). Injections were repeated once a week for 8 weeks. The patients were followed monthly for three months. To determine the level of pain, Visual Analogue Scale (VAS) from 0 to 10 was used. The data were statistically analyzed to determine the difference between the number, size, and pain using Wilcoxon test. RESULTS: It was shown that 8-stage injection of enoxaparin is associated with significantly reduced number, size, recurrence intervals, and the intensity and duration of pain of the lesions in 21 males (70%) and 9 females (30%) of the present study. CONCLUSION: According to the limitations of the present study, systemic Enoxaparin seems successful in reducing the number, size, recurrence frequency and the duration of pain and discomfort in RAS patients without significant side effects.

First-trimester screening for chromosomal abnormalities by integrated application of nuchal translucency, nasal bone, tricuspid regurgitation and ductus venosus flow combined with maternal serum free ß-hCG and PAPP-A: a 5-year prospective study.

OBJECTIVE: To investigate the performance of first-trimester screening for chromosomal abnormalities by integrated application of nuchal translucency thickness (NT), nasal bone (NB), tricuspid regurgitation (TR) and ductus venosus (DV) flow combined with maternal serum free ß-human chorionic gonadotropin (fß-hCG) and pregnancy-associated plasma protein-A (PAPP-A) at a one-stop clinic for assessment of risk (OSCAR). METHODS: In total, 13,706 fetuses in 13,437 pregnancies were screened for chromosomal abnormalities during a period of 5 years. Maternal serum biochemical markers and maternal age were evaluated in combination with NT, NT + NB, NT + NB + TR, and NT + NB + TR + DV flow data in 8581, 242, 236 and 4647 fetuses, respectively. RESULTS: In total, 51 chromosomal abnormalities were identified in the study population, including 33 cases of trisomy 21, eight of trisomy 18, six of sex chromosome abnormality, one of triploidy and three of other unbalanced abnormalities. The detection rate and false-positive rate (FPR) for trisomy 21 were 93.8% and 4.84%, respectively, using biochemical markers and NT, and 100% and 3.4%, respectively, using biochemical markers, NT, NB, TR and DV flow. CONCLUSION: While risk assessment using combined biochemical markers and NT measurement has an acceptable screening performance, it can be improved by the integrated evaluation of secondary ultrasound markers of NB, TR and DV flow. This enhanced approach would decrease the FPR from 4.8 % to 3.4 %, leading to a lower number of unnecessary invasive diagnostic tests and subsequent complications, while maintaining the maximum level of detection rate. Pre- and post-test genetic counseling is of paramount importance in either approach.

Adverse drug reactions in an Iranian department of adult infectious diseases.

This study aimed to assess the frequency and severity of adverse drug reactions (ADRs) (WHO definition) in hospitalized adult patients in an infectious diseases referral ward in Tehran. Of 281 patients evaluated over 6 months, a total of 170 suspected ADRs were reported among 101 patients (35.9%). The most commonly affected organ system was gastrointestinal (47.5%), and the most common class of drugs responsible was anti-infectives (93.1%). ADRs were high among HIV-positive patients (82.9%), mainly due to anti-tuberculosis drugs. Attention to appropriate prescription of drugs is required with more careful clinical and laboratory monitoring of patients.

Adverse drug reactions in an Iranian department of adult infectious diseases

This study aimed to assess the frequency and severity of adverse drug reactions [ADRs] [WHO definition] in hospitalized adult patients in an infectious diseases referral ward in Tehran. Of 281 patients evaluated over 6 months, a total of 170 suspected ADRs were reported among 101 patients [35.9%]. The most commonly affected organ system was gastrointestinal [47.5%], and the most common class of drugs responsible was anti-infectives [93.1%]. ADRs were high among HIV-positive patients [82.9%], mainly due to anti-tuberculosis drugs. Attention to appropriate prescription of drugs is required with more careful clinical and laboratory monitoring of patients