Genetic analysis of oeulocutaneous albinism typela [OCA1A] in an iranian family

Oeulocutaneous albinism typel [OCA1] is characterized by the absence of melanin pigmentation. The mutation on TYR gene makes OCA1 as an autosomal recessive genetic disorder. In this study, we delineated the genetic analysis of an Iranian family with four members affected with OCA1. Clinical exams and paraclinical test were performed for all patients of the case family, also proband, her husband, and her parents. Pedigree chart was drawn too. We extracted the genomic DNA from the leukocytes of seven members of the family. Haplotype analysis at the TYR locus was done and informative microsatellite markers were employed. In order to amplify the entire coding region of the TYR gene, for bidirectional direct sequencing mutation analysis, eight sets of primers were used. Our patients were diagnosed as affected with Oeulocutaneous albinism type la. Analysis of pedigree pattern showed an autosomal recessive inheritance. Analysis with different markers in chromosomes 5, 6, 9, 11 and 15 showed that cause of albinism in our case family was on chromosome 11 [Dl 1 SI 887 marker was informative]. The results offered a more developed method of diagnosis for OCA1 carrier identification and genetic counseling for OCA1 affected families as well; also submit a sample of mutation involved with Oeulocutaneous albinism in Iran. Genetic analysis is necessary for determining the type of albinism in an individual patient

[Nasopharyngeal carriage rate of Moraxella catarrhalis among children under 6 years of age in Mashhad city and antibiotic-resistance pattern in Moraxella catarrhalis isolates]

Nasopharyngeal colonization of Moraxella catarrhalis were in young children may be important so in this study the nasopharyngeal carriage and antimicrobial susceptibility of Moraxella catarrhalis were among children was surveyed in Mashhad. This cross sectional study was performed from Jan 2005 to Feb 2006. 1161 healthy children aged under 6 years attending day-care centers in Mashhad city were studied. Nasopharyngeal samples were collected by sterile swabs and then inoculated on selective agar. After 24h incubation microbiological tests were performed and antimicrobial sensitivity tests were done. Of 1161 children 572[49.3%] were boys and 589[50.7%] were girls and the mean age was 4.2 years. Moraxella catarrha liswere recovered from 54 [4.65%]. The rate of resistance to at least one antibiotic was 35.2%, 100%, 68.51%, 46.30%, 00%, and 74% to Co-timoxazol, Penicillin, Erythromycin, Cefixime, Amoxicillin clavunic acid, Amoxicillin respectively. Although the rate of the carrier nasopharyngeal Moraxella catarrhalis in the Mashhad city was low [4.65%], the resistant rate to the antibiotics was high. In order to avoid of excessive antibiotic use and subsequently high rate of resistance, enough education not only to the physicians but also general population is necessary

[Cemento-ossifying fibroma of the sphenoethmoidal sinus [case report]]

Cemento-Ossifying Fibroma [COF] is a well-demarcated and occasionally encapsulated neoplasm that contains fibrous tissue and varyig amounts of calcified tissue resembling bone, cementom, or both. We report a case of COF involving the ethmoid and sphenoid sinuses and review the literature in order to study the clinical features, imaging findings and histopathologic characteristics of COF. A 19-year-old women was referred to our hospital because of headache and 4 millimeter proptosis in the left eye of one year's ago. A clinical examination revealed a red mass in the middle meatus of the left nose. C.T scan showed a large lobulated lytic lesion in the ethmoid and sphenoid sinuses. The patient was operated with endoscopic sinus surgery three time. The first histologic report was mucopyocells of ethmoid and sphenoid sinuses but second histologic report was cemento-ossifying fibroma. A Combined study in cooperating clinical radiographic and pathologic findings is important in order to ensure a accurate diagnosis. Postoperative follow up is essential; especially in cases where incomplete removal of the COF was performed

[Prevalence and Antimicrobial susceptibility of Haemophilus influenza among healthy children in Mashhad]

Nasopharyngeal colonization of Haemophilus influenza in young children may be important so in this study the nasopharyngeal carriage and antimicrobial susceptibility of Haemophilus influenza among children was surveyed in Mashhad. The study included 1161 healthy children less than 6 years of age. Nasopharyngeal swabs from these patients were cultured, and Haemophilus influenza were isolated. Antibiotic susceptibility of the strains was determined using disk diffusion. The carriage rate of Haemophilus influenza was 10.76% [125/1161]. High antibiotic resistance was observed against commonly administered antibiotics like Penicillin [82.4%], ampicillin [70.4%], Amoxicillin [79.2%] and trimethoprim sulfamethoxazole [71.2%]. It was found that 68.8% and 42.4% of isolates were susceptible against erythromycin and cefexim, respectively. H. influenza isolates from healthy Children in Mashhad had high resistance rates against ampicillin, Sulphamethoxazole/ trimethoprim and some other antibiotics. So antibiotic susceptibility investigations are important for choice of therapy in every acute respiratory tract infection. And further monitoring of antibiotic resistance among nasopharyngeal H. influenza as a surrogate for invasive H. influenza seems an attractive option

[Neonatal hearing screening with TEOAE in Mashhad city]

Hearing loss diagnosis solely by using the classical methods in neonatal and infants seems to be difficult. Any delay in diagnosis results in reverse effects on speech, language and social cognitive developments. TEOAE and ABR tests are highly recommended to be performed at birth. The aims of this study were early diagnosis, intervention and prevention of linguistic delay that were performed in the three hospitals in mashhad city. This was a descriptive study and neonates in the first 24 hours were screened using the TEOAE test. The cases who failed the first time test were have been rescreened 3 weeks later. If the results in both sessions [screen and re-screen] failed in one or both ears the child would be referred for a complete diagnosis ABR test before 3 month of age. Confirming the presence of mono aural or biaural hearing loss using by the ABR test. Long term follow up and medical/rehabilitative interventions were been programmed and performed before the age of 6 month. From 10016 screened new born 9615 individuals [96%] passed the tests and 401 individual [4%] were referred to the next step. Of those who were referred, only 289 individuals showed up for the re-screening test. From these only 23[8%] newborns were referred to ABR test. In this population the presence of hearing loss was only confirmed in 13 individuals [56%]. Eight of them had profound hearing loss in cochlear, 2 of them had moderate hearing loss in Cochlea, and 3 newborn had sever conductive deficit. Because of the high prevalence of congenital hearing loss, the reverse effects on children development, the availability of accurate tests for diagnosis of hearing loss, and being cost effective, hearing screening of all the neonates are highly recommended at the birth

[Radiographic evaluation of adenoidal-nasopharyngeal ratio in the children with otitis media with effusion]

Adenoid hypertrophy is one of the main common causes of eustachian tube dysfunction and otitis media with effusion. A group of otolaryngologists and pediatrics believe that it is not possible to estimate adenoid size in order to do Adenoidectomy only with clinical evaluation and there is no any acceptable result to show how many patients with OME were satisfied after adenoidectomy. The aim of this study is to determine ratio between adenoid and nasopharynx in children with adenoid hypertrophy and OME then determine the number of children who will be satisfy after adenoidectomy. This descriptive study was performed on 50 patients who had OME and adenoid hypertrophy and caome to ENT department of Imam Reza Hospital. The standard lateral neck view for the patients was done and sizes were calculated on lateral neck graphy. The A/N degree ratio which estimated was compared with the A/N degree ratio in normal children in the same ages from the other studies and the efficacy of adenoid size on obstructive manifestations was considered. 6 of 50 patients were between 4-6, 37 of them between 6-8 and, 7 of them between 8-10 years old. A/N ratio on different age groups in OME patients in comparison with normal people has no significant differences [P=0.43]. 16[%32] patients did not have any obstructive signs and 54[%44] had obstructive signs and mean ratio A/N was 0.44 and 0.49 respectively. This study shows in patients with OME, mean ratio A/N in a group with adenoid hypertrophy is higher than those in asymptomatic group [P<0.001]. This study shows in patients with OME and obstructive signs, adenoidectomy can be effective for the treatment of obstructive signs, but in patients with adenoid hypertrophy without obstructive signs, adenoidectomy would not be beneficial

[ prevalence of nasopharyngeal streptococcal pneumonia carriers in Mashhad day care children and their antibiotic resistance pattern]

Streptococcus pneumonia is the most common cause of communityacquired bacterial respiratory tract infection. It is also a major cause of acute otitis media, bacteremia and meningitis. There are few data on antibiotic- resistant streptococcus pneumonia in Iran. The aim of our study was to determine prevalence of nasopharyngeal carrier of streptococcus pneumonia and their antibiotic resistance pattern in children. This cross sectional study was performed from Jan 2005 to Feb2006 .1161 healthy children aged less than 6 years attending day -care centers in Mashhad city were studied. Nasopharyngeal samples were collected by sterile swabs and then inoculated on selective agar. After 24h incubation microbiological tests were performed and antimicrobial sensitivity tests were done. of 1161 children 572[49.3%] were boys and 589[50.7%] were girls and the mean age was 4.2 years. Streptococcus pneumonia was recovered from 102 [8.78%]. The rate of resistance to at least one antibiotic was 100%, 80.4%, 48.3%, 43.13%, 40.79%, 18.62%, 22.5 5% to Co-trimoxazol, Penicillin, Erythromycin, Cefixime, Amoxicillin clavunic acid, Amoxicillin respectively. Although the rate of the carrier nasopharyngeal pneumococci in the Mashhad city was low [8.7%]. The resistant rate to the antibiotics was high. In order to avoid of excessive antibiotic use and subsequently high rate of resistance, enough education not only to the physicians but also general population is necessary

Epstein - Barr virus antibody titers in non nasopharyngeal head and neck squamous cell carcinoma

The object of this study was to compare EBV antibody titers between various nonnasopharyngeal head and neck SCC and healthy control persons. During 2 years period ELISA was used to investigate titer of different classes of antibody against VCA, EA, and EBNA component of EBV in patient and control group. of 41 patients enrolled in the study 21 were diagnosed by pathological study with pharyngeal and 20 with laryngeal carcinoma. All of different classes of EBV antibody except for EBNA [IgG] in patient group were significantly higher than those in control group. Statistical analysis did not show a significant difference in antibody titers between laryngeal and pharyngeal location of disease as well as between tobacco user and non user groups. Based on the present study there is an association between high EBV antibody titers and non nasopharyngeal head and neck squamous cell carcinoma. Further experiments on tissue samples could investigate the role of EBV in tumor genesis of laryngopharyngeal carcinoma

Large giant cell tumor of the temporal bone presenting as mild conductive hearing loss

Giant cell tumor of bone or osteoclastoma is a relatively rare primary neoplasm of temporal bone. It usually involves the epiphyseal region of long bones. Primary involvement of bones of the skull appears to be uncommon. we report a case of giant cell tumor of temporal bone arising in a 33 years old man. The presenting symptom is only mild conductive hearing loss. A computed tomography [CT] scan showed a large well circumscribed mass within the right temporal bone, the posterior cranial fossa and the infratemporal fossa. Biopsy and subsequent resection showed a giant cell tumor of bone. Temporal bone tumor may be presented with symptoms such as mild hearing loss or aural fullness. So we always must be attention rare reasons of common symptoms

[Paraganglioma of the vagus nerve report of a case review of litrature]

We report a case of vagal paraganglioma which presented as parapharyngeal mass in otherwise healthy woman. The CT scanning revealed a 5x5 cm diameter right parapharyngeal mass which displaced oropharyngeal lateral wall, medially. Patient underwent neck exploration using cervical -parotid approach. After identification of facial nerve and its lower branch which was retracted superiorly, a red brownish hyper vascular mass was exposed, the mass and displaced carotid artery and its branches antrolaterally and originated from vagus nerve and resected with a part of nerve Although vagal praganglioma mostly presents as dysphonia due to vocal cord paralysis it maybe presents exclusively as neck mass and its parapharyngeal component

[Comparison of helicobacter pylori Seroprevalence between acne rosacea and healthy group]

Background and Objective: acne rosacea is a chronic skin disease with unknown etiology. Some reports have suggested an increased prevalence of helicobacter [H] pylori infection in patients with acne rosacea but it is controversial. This study was designed to compare the prevalence of H pylori between the acne rosacea patients and the healthy control group

Materials and Methods: this case-control study was performed on 30 patients with acne rosacea and 60 healthy individuals as a control group. 5 mL blood was taken from each person and anti-H pylori IgG was measured by enzyme-linked immunosorbent assay

Results: mean age was 45.8+/-14.05 years in acne rosacea patients and 41.4+/-12.3 years in control group. Seventeen [56.7%] of patients and fifty two [86.2%] of controls were infected by H pylori [P=0.002], but mean serum anti-H pylori IgG level was significantly higher in acne rosacea patients comparing to healthy control group [139.49+/-174.15 g/mL vs 38.87+/-23.50, P=0.005]

Conclusion: despite increased mean serum anti-H pylori IgG levels in acne rosacea patients, H pylori was more prevalent in healthy control group, in this study