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Biomedical subjects

Mustafa Deniz Yilmaz

Publications and source records attributed to Mustafa Deniz Yilmaz.

14 recordsLinked to original sources

Characteristics of lacrimo-auriculo-dento-digital (LADD) syndrome: case report of a family and literature review.

We describe a family with lacrimo-auriculo-dento-digital syndrome (LADD). A 13-year-old boy had cup-shaped ears, deafness, unilateral choanal atresia, bilateral nasolacrimal duct obstruction, xerostomia, alacrima due to congenital absence of lacrimal glands, agenesis of salivary glands, chronic dacryocystitis, keratoconjunctivitis sicca, ptosis, nail dysplasia of the thumb, shortness of fifth toe, temporal bone abnormality and epilepsy. His younger sister had shortened middle phalanx of fifth digits. His middle sister had hypodontia, shortened distal phalanx of fifth digit, agenesis of salivary glands, mild hearing loss and exotropia. His older sister had left nasolacrimal duct obstruction and aplasia of both parotid glands. The oldest sister had hypodontia and divergent excess exotropia. His mother had hypodontia. These findings are consistent with LADD syndrome. An autosomal dominant pattern of inheritance with variable expressivity has been demonstrated. Renal and uro-genital anomalies have been noted variably.

Abnormalities, Multiple↗

Does Helicobacter pylori have role in development of otitis media with effusion?

OBJECTIVE: Recently, it was suggested that tonsil and adenoid tissues may act as a reservoir for Helicobacter pylori (HP). A connection between chronic tubotympanal disorders and gastroesophageal reflux is well recognized, but the mechanism underlying this relationship is unclear. In this study, we investigated possible presence of HP in adenoid tissue and middle ear effusions in patients with chronic otitis media with effusion (OME) and we compared the data with the results of the children who had adenoid hypertrophy without OME. METHODS: The study was comprised of 38 consecutive children with adenoid hypertrophy and/or chronic OME. The patients were divided into two groups. The first group included 18 subjects having OME+adenoid hypertrophy and the second group included 20 subjects having solely adenoid hypertrophy. Each patient underwent the appropriate surgical procedure; myringotomy, placement of tympanostomy tubes and/or adenoidectomy. After myringotomy, the middle ear effusions were collected in a suction and collection device and a core biopsy specimen was taken from each adenoid tissue following adenoidectomy. DNA extracted from these samples was used for the amplification of 23S ribosomal RNA gene of HP by real-time polymerase chain reaction (RT-PCR). RESULTS: In the first group 34 effusion samples were obtained from ears of 18 patients (two had unilateral OME). HP was found to be positive in 12 children (67%) and 16 of 34 ears (47%) with RT-PCR. In eight children HP was positive in only one ear and in four children in both ears. No positive reaction was seen in tissue samples obtained from adenoids of these patients. In the second group a positive reaction was seen in adenoid tissue of only one patient. CONCLUSIONS: This study showed that there is HP presence in middle ears of the children with chronic OME, indicating HP having a possible role in OME pathogenesis. In addition, we demonstrated HP presence in only 1 of 38 adenoid specimens supporting the idea that adenoid tissue does not act as a reservoir for HP.

Adenoids↗

Coexistence of choanal atresia and Tessier's facial cleft number 2.

Choanal atresia is one of the most commonly observed congenital abnormalities of the nose. This defect is frequently associated with other congenital anomalies. One of the anomalies, which is rarely encountered is a Tessier's facial cleft 2. In this report, we present a 6-year-old girl who was brought to our department with complaints of nasal obstruction and chronic nasal discharge. On examination, a scar was seen on the left ala of her nose due to the former repair of a congenital defect. We found hypoplastic nasal cavities and bilateral choanal atresia demonstrated by rigid and flexible endoscopy. A CT scan supported these findings. This coexistence of bilateral choanal atresia with a number 2 facial cleft is an addition to a formerly proposed classification of laterofacial clefts. We think that this classification is better for describing the extent and origin of these complex lesions.

Child↗

Schwannoma of the upper lip: a case report.

Schwannomas are neurogenic tumors that arise from the Schwann cells of the nerve sheath. They are benign, usually solitary, and encapsulated neoplasms. In this report, a 29-year-old woman with a complaint of painless swelling in the upper lip is presented. Computed tomography showed a well-circumscribed solid mass. The lesion was excised and histopathologic diagnosis was made as schwannoma. The postoperative course was uneventful. No recurrence was observed during a follow-up period of 12 months.

Adult↗

Cavernous hemangioma of the left vocal cord.

Laryngeal hemangioma in adults is a very rare condition. We report the case of a 41-year-old man with hemangioma of the left vocal cord. The literature on this rare occurrence is reviewed and the significance of the case discussed.

Adult↗

[A report of Thornwaldt's cyst in four patients: the effectiveness of endoscopic approach in three symptomatic cases].

We encountered Thornwaldt cysts in four patients (3 males, 1 female; age range 30 to 46 years). Three symptomatic patients underwent endoscopic surgery. No intervention was made in one asymptomatic patient. Cyst-related complications included bilateral middle ear effusion in one patient. Postoperatively, no symptoms or recurrences were observed in a mean follow-up period of 11 months. In the asymptomatic patient, the cyst size remained unchanged during eight-month follow-up.

Adult↗

Bilateral second branchial cleft cysts without any associated congenital abnormality: a case report.

A thirty-year-old male patient with bilateral second branchial cleft cysts is presented, in whom no association was found with any other congenital abnormality, in particular branchio-oto-renal syndrome. He had a complaint of painless swelling on both sides of the neck. Physical and radiological examinations showed bilateral branchial cleft cysts. A coexisting congenital syndrome could not be documented despite investigations including physical examination, blood biochemistry and complete blood count, audiologic tests, temporal bone computed tomography, and abdominal and renal ultrasonography. Surgical excision was performed on both sides with a three-week interval. Histopathologic examination confirmed the diagnosis. The postoperative period was uneventful, with no recurrence during a follow-up period of 12 months.

Adult↗

Unilateral aplasia of the submandibular gland.

The congenital absence of major salivary glands is an extremely rare disorder. In this case, we report a 32-year-old woman who came to us with right submandibular gland aplasia, which was detected incidentally. The literature on this rare occurrence is reviewed and the significance of the patient is discussed.

Adult↗

The effects of tonsillectomy and adenoidectomy on serum IGF-I and IGFBP3 levels in children.

OBJECTIVE: Obstructive adenoid and tonsillar hyperplasia may present with retardation of growth. Interruption of growth hormone-insulin-like growth factor I axis resulting from abnormal nocturnal growth hormone secretion is among the postulated causes. Growth hormone (GH) mediates its anabolic effects on tissues through insulin-like growth factor I (IGF-I). Most of the circulating IGF-I is bound to insulin-like growth factor binding protein 3 (IGFBP3). The objective of this study is to determine blood serum levels of IGF-I and IGFBP3 in patients with adenoid and tonsillar hypertrophy. Furthermore, we want to investigate the effect of tonsillectomy and adenoidectomy (T&A) on these levels. STUDY DESIGN: The blood serum levels of IGF-I and its binding protein IGFBP3 were examined in 41 randomly selected children with a diagnosis of upper airway obstruction resulting from hypertrophic tonsils and adenoids. METHODS: Blood samples were taken preoperatively and repeated at 3 to 6 months (mean, 4.3 mo) following T&A operation. Coated-tube immunoradiometric assay (IRMA) method was used to analyze IGF-I and IGFBP3 levels. RESULTS: Thirty-two of 41 children were eligible for the analysis. When the preoperative and postoperative results were compared, it was found that there was a statistically significant increase in serum IGF-I and IGFBP3 levels in these 32 children (P <.001). In 7 of the 32 patients, the preoperative serum IGF-I levels were below normal. Postoperatively these levels increased within normal range. This was also statistically significant (P = .016). CONCLUSION: These findings revealed that obstructive adenoid and tonsillar hypertrophy may cause decreased serum IGF-I levels by affecting the GH-IGF-I axis, and T&A is an effective therapeutic measure in these patients.

Adenoidectomy↗

The effects of tonsillectomy and adenoidectomy on pulmonary arterial pressure in children.

PURPOSE: It is well known that hypertrophic tonsils and adenoids may cause upper-airway obstruction. The aim of this study is to determine the mean pulmonary arterial pressure (mPAP) in children with hypertrophic tonsils and adenoids and to clarify whether tonsillectomy and adenoidectomy (T&A) has any effect on mean pulmonary arterial pressure of these children. MATERIALS AND METHODS: Fifty-two randomly selected children (36 male, 16 female) aged between 4 and 11 (mean 7.7+/-2.5) a with a diagnosis of upper-airway obstruction resulting from hypertrophied tonsils and adenoids were included in our study. Thirty-three children were assigned as controls with similar age and sex distribution with the study groups. Mean pulmonary arterial pressure was measured by using Doppler echocardiography preoperatively and mean 5.4+/-2.9 months postoperatively in all subjects. RESULTS: When the mean pulmonary arterial pressure values of study and control group compared preoperatively, the mean pulmonary arterial pressure levels of the children in the study group were significantly higher than the mean pulmonary arterial pressure levels of the children in the control group (P<.05) (study group mean PAP=23.13+/-7.68, control group mean PAP=16.11+/-7.24) (Levene's test, P<.05). When the preoperative and postoperative results were compared, it was found that there was a statistically significant decrease in mean pulmonary arterial pressures in these 52 children (preoperative mean PAP=23.13+/-7.68, postoperative mean PAP=17.00+/-6.99) (paired sample t test, P<.05). Twenty-seven of the 52 subjects in the study group were pulmonary hypertensive preoperatively. mPAPs of 18 of these children decreased to normal range yielding 9 subjects, and this was also found ststistically significant (McNemar test, P<.001). CONCLUSION: This study showed that obstructive adenoid and tonsillar hypertrophy causes higher mPAP values in children and revealed that T&A is an effective therapeutic measure in such patients.

Adenoidectomy↗

Congenital vomeral bone defect.

Congenital anomalies of the nose is comprised of a broad spectrum of different types of malformations ranging from a minor alar cleft to total agenesia. Reports about congenital septal defects are few in literature. In this manuscript, we report on a 19-year-old male patient with a congenital defect on the posteroinferior portion of the septum. The defect was diagnosed by endoscopy and confirmed by computed tomography. This defect probably occurred because of an arrest in development of vomeral bone. The literature on this rare occurrence is reviewed, and the significance of the patient is discussed.

Adenoidectomy↗

Middle ear hemangioma: a case report.

Hemangiomas are common benign vascular tumors, but they have rarely been reported in the middle ear. They can mimic glomus tumor in appearance when encountered as middle ear masses. A case of a right-sided middle ear hemangioma in a 51-year-old woman who suffered from pulsatile tinnitus is presented with a review of the relevant literature.

Ear Neoplasms↗

[Nasolabial cyst: two cases].

Nasolabial cysts are developmental swellings originating from the epithelial remnants of the nasolacrimal ductus. In this report we present two female patients (age 44 and 54 years) with nasolabial cysts. In both cases the leading complaints arose from cosmetic appearance. Surgical excision by sublabial approach was performed. Histopathological diagnoses were in agreement with the clinical diagnoses. The patients had an uneventful postoperative period and no recurrences were seen during a follow-up period of 12 months.

Adult↗

Expression and distribution of aquaporin-1 in nasal polyps: does it have any significance in edema formation?

BACKGROUND: The aim of this study was to investigate the expression of Aquaporin 1 (AQP1) and AQP4 in polyp tissue. METHODS: Nasal polyps were obtained from 34 patients with nasal polyposis during endoscopic sinus surgery. Bullous middle turbinates with normal-appearing mucosa of 10 patients were used as controls. Expression of AQP1 and AQP4 water channels were determined by immunohistochemical methods. RESULTS: AQP1 has been found to be expressed in fibroblasts located in polyp tissue, especially in the subepithelial area, periphery of seromucous glands, and endothelial cells of venules. CONCLUSION: We have established a high expression of AQP1 water channels in nasal polyp tissue and have suggested two mechanisms to explain this finding. Increased AQP1 expression may be a cause or a consequence of edema formation. Thus, additional studies are needed to elucidate the true mechanism underlying this relationship.

Aquaporin 1↗