Iranian Journal of Otorhinolaryngology
Volume:27 Issue: 1, Jan 2015

Cleft lips and cleft palates are common congenital abnormalities in children. Various chromosomal loci have been suggested to be responsible the development of these abnormalities. The present study was carried out to investigate the association between the suspected genes (methylenetetrahydrofolate reductase [MTHFR] A1298C and C677T) that might contribute into the etiology of these disorders through application of molecular methods. This cross-sectional and explanatory study was carried out on a study population of 65 affected children, 130 respective parents and 50 healthy individuals between 2009 and 2012 at Tabriz University of Medical Sciences, IR Iran. After DNA extraction, amplification refractory mutation system–polymerase chain reaction (ARMS-PCR) and restriction fragment length polymorphism (RFLP)-PCR were used respectively to investigate the C677T and A1298C mutations for the MTHFR gene. There was a significant difference in the rates of the C677T mutation when affected patients and their fathers were compared with the control group (odds ratio [OR]=0.44) (OR=0.64). However, there was no significant difference observed in the rate of this mutation between the patients’ mothers and the control group (OR=1.35). In addition, the abnormality rate was higher in patients with the A1298C mutation and their parents, when compared with the control group. This abnormality rate was higher for the affected children and their fathers in comparison with their mothers (Fathers, OR=0.26; Mothers, OR=0.65; Children, OR=0.55). No significant difference was seen in the rate of the polymorphism C677T in its CC, when the affected children and their parents were compared with the control group. However, there was a significant difference in the A1298C mutation. An association was seen between the A1298C mutation and cleft lip and cleft palate abnormalities in Iran. However, there seems to be a stronger relationship between the C67TT mutation and these abnormalities in other countries, which could be explained by racial differences. Moreover, this association was more notable between the affected children and their fathers than their mothers. The findings in this study may be helpful in future studies and screening programs.

Caustic ingestion is responsible for a spectrum of upper gastrointestinal tract injury from self-limited to perforation. This study conducted to evaluate clinical characteristics as well as surgical outcomes in patients with caustic ingestion. Between Nov1993 to march 2011, 14 adults with a clinical evidence of corrosive ingestion were admitted into our institutions (Omid and Ghaem hospitals). Patients evaluated for etiology of erosion, location, type of surgery, morbidity and mortality after surgery. 14 patients (10men and 4 women) with a age range between18-53 years were evaluated. In 6 patients, the injury was accidental and in 8 patients ingestion was a suicide attempt. Ingested agent included nitric acid in 4 patients, hydrochloric acid in 7 patients, sulfuric acid in 2 patients and strong alkali in one patient. The location and extent of lesion varied included esophagus in 13 cases, stomach in 7 cases and the pharynx in 3 cases. Acute abdomen was developed In 2 patients and a procedure of total gasterectomy and blunt esophagectomy was performed. In the remaining patients, substernal esophageal bypass in 2 patients, esophageal resection and replacement surgery in 9 patients and gastroenterostomy in one patient performed to relieve esophageal stricture. Two patients died of mediastinitis after esophageal replacement surgery. Postoperative strictures were developed in 2 survived patients with hypopharyngeal reconstruction that was managed by per oral bougienage in one patient and KTP Laser and stenting in the other patient. Esophageal resection with replacement was safe and good technique for severe corrosive esophageal stricture with low mortality and morbidity.

This study was designed to evaluate the usefulness of mastoid cavity obliteration with combined bone pâté and Palva flap in the prevention of problematic mastoid cavities after canal wall down mastoidectomy. In a prospective longitudinal study with a mean follow-up of 28 months conducted between 2008–2012, a series of 56 ears in 48 patients with chronic otitis media due to a cholesteatoma underwent canal wall down mastoidectomy that their mastoid cavity obliterated with combined bone pâté and Palva flap. Seventeen (30%) ears were managed via revision surgery, with the reminder via primary surgery. Data included mastoid cavity status, results at second-look surgery with ossiculoplasty, and postoperative complications. All patients underwent second-look surgery. Forty-six (82%) ears maintained a very small, dry and healthy mastoid cavity. Seven (13%) ears had occasional otorrhea, and three (5%) ears had small granulation tissue. Seven (12.5%) ears had residual cholesteatoma pearl in the middle ear at second-look surgery. Four (7%) ears exhibited wound infection. Canal wall down mastoidectomy and mastoid cavity obliteration with combined bone pâté and Palva flap is a effective option for the complete removal of cholesteatoma and prevention of postoperative mastoid cavity problems.

To report our experience with a large series of surgical procedures for removal of cerebellopontine angle (CPA) tumors using different approaches. This was a retrospective analysis of 50 patients (mean age, 49 years) with CPA tumors (predominantly acoustic neuroma) who underwent surgical removal using appropriate techniques (principally a translabyrinthine approach) during a 4-year period. One death occurred during this study. There were nine cases (18%) of cerebrospinal fluid leak, and five patients (10%) were diagnosed as having bacterial meningitis. Complete gross tumor removal was not achieved in four patients (8%). Facial nerve function as measured by the House Brackmann system was recorded in all patients 1 year following surgery: 32% had a score of 1 or 2; 26% had a score of 3 or 4; and 8% had a score of 5 or 6. Other complications included four cases of wound infection. The translabyrinthine approach was predominantly used in our series of CPA tumors, and complication rates were comparable with other large case series.

Cleft lip and palate are among the most common congenital anomalies worldwide. This study was conducted in order to explore the incidence and related factors of cleft lip and/or palate (CL/P) among live births in Mashhad, North-Eastern Iran. In this cross-sectional study, records of 28,519 infants born between March 1982 and March 2011 at three major hospitals in Mashhad were screened for oral clefts. Clinical and demographic factors relating to diagnosed cases, including birth date, gender, birth weight, maternal age, number of pregnancies, type and side of cleft and presence of other congenital anomalies were recorded for analysis. The overall incidence of CL/P was 1.9 per 1,000 live births. Cleft lip associated with cleft palate (CLP) was the most prevalent type of cleft (50%), followed by isolated cleft lip (35.2%) and isolated cleft palate (14.8%). A total of 92.6% of oral clefts were bilateral and 5.5% were located on the right side. In addition, clefts were found to be more common in male than female births (male/female ratio=2.3). The rate of associated congenital anomalies in CL/P newborns was 37%. No significant differences were observed in the incidence of oral clefts across three decades of study; except for CLP which was significantly more prevalent between 2002–2011 (P=0.027). There were no significant differences with regard to season of birth, associated anomalies or maternal age of affected newborns in the three time periods of the study. Furthermore, maternal age and number of pregnancies were not significantly different among the three types of cleft (P=0.43 and P=0.91, respectively). Although the mean birth weight of patients affected with isolated cleft palate was considerably lower than that of the other two types of cleft, the difference was not statistically significant (P=0.05). This study indicates a frequency of CL/P close to the findings in East Asian countries and higher than some previous reports from Iran, European and American countries. Ethnicity-related genetic factors may have a role in the conflicting results obtained from different populations.

Oral lesions are among the earliest clinical manifestations of human immunodeficiency (HIV) infection and are important in early diagnosis and for monitoring the progression to acquired immunodeficiency syndrome (AIDS). The purpose of this study was to determine the prevalence of oral lesions and their relationship with a number of factors in HIV/AIDS patients attending an HIV center. A total of 110 HIV-positive patients were examined to investigate the prevalence of oral lesions according to the criteria established by the European Community Clearing House on Oral Problems Related to HIV Infection. An independent T-test was used for correlation of oral lesions with CD4+ count and a χ2 test was used for analysis of the relationship of co-infection with hepatitis B virus (HBV), sexual contact, route of transmission, history of drug abuse, and history of incarceration. Most of the cases were male patients (82.7%). The mean age across all participants was 36.2±8.1 years. Rampant carries, severe periodontitis and oral candidiasis were the most notable oral lesions. Oral lesions were more prevalent in patients between 26–35 years of age. There was a significant difference between patients with and without pseudomembranous candidiasis and angular cheilitis according to mean level of CD4+. The most common oral presentations were severe periodontitis, pseudomembranous candidiasis and xerostomia.

Chronic nasal obstruction due to adenoid hypertrophy is a very common disorder. Although the clinical assessment of adenoid hypertrophy is essential, its real value in young children is difficult to evaluate. The purpose of this prospective study was to validate a simple clinical score to predict the severity of adenoid obstruction and to evaluate the relationship between this method of clinical scoring with radiography and nasopharyngeal endoscopy. Ninety symptomatic children were enrolled into this study. The clinical score included difficulty of breathing during sleep, apnea, and snoring. We investigated the relationship between clinical scoring, nasal endoscopy, and radiographic findings. The clinical score correlated very well with endoscopic findings (P<0.000), but the correlation between the clinical score and radiologic findings (P>0.05) and endoscopic findings and imaging (P>0.05) was weak. Clinical findings could be used to select children for adenoidectomy, especially when endoscopic examination is not available or cannot be performed.

Ondine’s Curse is a catastrophic but rare condition in adults. It is referred to as a congenital or acquired condition, in which the patient cannot breathe automatically while asleep. Acquired causes of this disease can be any cause affecting the ventrolateral part of the medulla, which is considered to be the breathing center in humans. Case Report: A 51-year-old woman, with ataxia and the symptoms and signs of rising Intra-Cranial Pressure, who underwent ventriculoperitoneal shunting and removal of tumour, developed episodic apnea during sleep after surgery and hypercapnia when awake. In her post-operative CT scan, some fine spots of hypodensity in the left lateral part of the medulla were observed. She was managed pharmacologically and underwent tracheotomy. After 50 days, she was discharged from the hospital when she was able to breathe normally. Having experience with this condition after resection of a fourth ventricle tumor, it was found that Ondine’s Curse can be considered as one of the complications of posterior fossa surgery and is curable by proper management.

Granular cell tumors (GCTs) are rare and mostly benign soft tissue tumors. Though they have been reported in all parts of body, they are generally located in the head and neck region, especially on the tongue. Some malign forms exist, but these have been rarely reported. Granular cell tumors have a neural origin and, in immunohistochemical evaluations, they express S-100 and neuron specific enolase (NSE). The treatment of these tumors is bulky surgical excision. Case Report: In this case, a cauliflower shaped lesion with a 1 cm diameter was excised from the midline tongue of a 65 year old woman. The histopathological evaluation indicated that it was squamous cell carcinoma (SCC) covering GCT. Herein, the coexistence of GCT and SCC we describe on the same region of the tongue, in accordance with literature review, since this is a very rare condition. Pseudoepitheliomatous hyperplasia may accompany GCTs on the tongue and this condition may mimic well-differentiated SCC. For this reason, with the help of Ki-67 and p63 expression, in addition to immunohistochemical markers, well-differentiated SCC should be differentiated from pseudoepitheliomatous hyperplasia through careful investigation.

Evaluation of persistent vertigo in post infarct patients is very important as the management depends on whether the cause is purely of central origin or due to associated vestibular affliction. Case Report: A patient with left sided dorsolateral medullary syndrome and persistent vestibular symptoms was evaluated. Vestibular test battery showed abnormal smooth pursuit, bilateral hyperactive caloric responses, and abnormal dynamic subjective visual vertical and dynamic subjective visual horizontal tests. Dorsolateral medullary infarctions (Wallenberg’s syndrome) typically cause a central vestibular tonus imbalance in the roll plane with ipsilateral deviations of perceived vertical orientation. The SVV and SVH tests may have a role in localizing the pathology in a patient with lateral medullary syndrome.