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Biomedical subjects

R Caylan

Publications and source records attributed to R Caylan.

17 recordsLinked to original sources
PubMed2007

A novel locus for autosomal recessive nonsyndromic hearing impairment, DFNB63, maps to chromosome 11q13.2-q13.4.

Hereditary hearing impairment is a genetically heterogeneous disorder. To date, 49 autosomal recessive nonsyndromic hearing impairment (ARNSHI) loci have been described, and there are more than 16 additional loci announced. In 25 of the known loci, causative genes have been identified. A genome scan and fine mapping revealed a novel locus for ARNSHI (DFNB63) on chromosome 11q13.2-q13.4 in a five-generation Turkish family (TR57). The homozygous linkage interval is flanked by the markers D11S1337 and D11S2371 and spans a 5.3-Mb interval. A maximum two-point log of odds score of 6.27 at a recombination fraction of theta = 0.0 was calculated for the marker D11S4139. DFNB63 represents the eighth ARNSHI locus mapped to chromosome 11, and about 3.33 Mb separate the DFNB63 region from MYO7A (DFNB2/DFNB11). Sequencing of coding regions and exon-intron boundaries of 13 candidate genes, namely SHANK2, CTTN, TPCN2, FGF3, FGF4, FGF19, FCHSD2, PHR1, TMEM16A, RAB6A, MYEOV, P2RY2 and KIAA0280, in genomic DNA from an affected individual of family TR57 revealed no disease-causing mutations.

Chromosome Mapping↗
PubMed2006

Malignant fibrous histiocytoma of the mandible.

We report a case of malignant fibrous histiocytoma (MFH) primary within the mandible of a 32-year-old female. The mandible is a rare location of MFH, accounting for only 3% of all tumours of this type occurring within bone. The clinical, pathological and radiographic features are discussed with special emphasis on the radiographic features of this lesion.

Adult↗
PubMed2006

[Antimicrobial susceptibility and serotype distribution of pneumococci strains isolated from meningitis patients].

Treatment of life threatening pneumococcal infections such as meningitis has recently become problematic due to the emergence of antibiotic resistant strains. Antimicrobial susceptibility data usually derived from the studies that included all clinical pneumococcal isolates. However, resistance patterns of this microorganism isolated from meningitis cases in our country are not exactly known. The aim of this study was to determine the antimicrobial susceptibility and serotypes of Streptococcus pneumoniae strains isolated from meningitis cases. This retrospective study was designed in three university hospitals in Turkey and 72 pneumococci isolated from patients with meningitis were evaluated. In this study disk diffusion test and E-test methods were used to determine the susceptibility of pneumococci to some antibiotics. All S. pneumoniae isolates were serotyped using Quellung reaction. Although resistance for oxacillin was found by disc diffusion method in 11 isolates, only six of them were found to be resistant by E-test. By the latter procedure, no resistance was recorded against ceftriaxone and meropenem, while chloramphenicol resistance was found as 1.4%. In our study, erythromycin, ciprofloxacin and levofloxacin resistance were 2.8%, TMP-SMX resistance was 26.4%, while no vancomycin resistance was detected by disk diffusion. In evaluation of 72 pneumococci, we found 16 different serotypes and four isolates could not be serotyped. The serogroup 23 (n: 19) was the most common one followed by serotype 19 (n: 9) and serotype 14 (n: 7). Of six resistant isolates, three pneumococci were serogroup 23 and the remaining were from three different serotype/serogroups 11, 14 and 19. As a result penicillin resistance in pneumococci isolated from meningitis was low and there was no resistance to ceftriaxone. It seems that ceftriaxone is an appropriate choice for empirical treatment of meningitis in our patients. These findings also revealed that pneumococcal polysaccharide capsule vaccines in use cover most of the invasive pneumococcal serotypes.

Adolescent↗
PubMed2005

A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome.

Homozygosity mapping and linkage analysis in a Turkish family with autosomal recessive prelingual sensorineural hearing loss revealed a 15-cM critical region at 17q25.1-25.3 flanked by the polymorphic markers D17S1807 and D17S1806. The maximum two-point lod score was 4.07 at theta=0.0 for the marker D17S801. The linkage interval contains the Usher syndrome 1G gene (USH1G) that is mutated in patients with Usher syndrome (USH) type 1g and encodes the SANS protein. Mutation analysis of USH1G led to the identification of a homozygous missense mutation D458V at the -3 position of the PDZ binding motif of SANS. This mutation was also present homozygously in one out of 64 additional families from Turkey with autosomal recessive nonsyndromic hearing loss and heterozygously in one out of 498 control chromosomes. By molecular modeling, we provide evidence that this mutation impairs the interaction of SANS with harmonin. Ophthalmologic examination and vestibular evaluation of patients from both families revealed mild retinitis pigmentosa and normal vestibular function. These results suggest that these patients suffer from atypical USH.

Amino Acid Motifs↗
PubMed2005

A case of Lemierre's syndrome following Epstein-Barr virus infection.

Lemierre's syndrome, or necrobacillosis, is a life-threatening septic thrombophlebitis of the internal jugular vein. The causative organism is Fusobacterium necrophorum. Here we report a case of Lemierre's syndrome in a young male and describe the clinical presentations and treatment. Epstein-Barr virus (EBV) was a suspected predisposing factor in this case.

Journal Article↗
PubMed2005

Four novel TMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing loss.

Mutations in the transmembrane channel-like gene 1 (TMC1) cause prelingual autosomal recessive (DFNB7/11) and postlingual progressive autosomal dominant (DFNA36) nonsyndromic hearing loss. To determine the genetic causes of autosomal recessive nonsyndromic hearing loss (ARNSHL) in the northeast and east of Turkey, 65 unrelated families without mutations in the protein coding region of the GJB2 (GJB2-negative) were analyzed. A genomewide scan for homozygosity and linkage analysis in one of these families revealed a 13.2 cM critical region between D9S273 and D9S153 at chromosome 9p13.2-q21.31 with a maximum two-point lod score of 4.00 at theta=0.0 for marker D9S175. TMC1 is in this critical region. Homozygosity screening with intragenic markers for TMC1 in the remaining 64 families suggested involvement of this gene in three additional families. Subsequent sequencing of TMC1 in these four families revealed four novel homozygous mutations, c.776A>G [p.Tyr259Cys], c.821C>T [p.Pro274Leu], c.1334G>A [p.Arg445His], and c.1083_1087delCAGAT [p.Arg362ProfrX6]. Our results indicate that TMC1 mutations account for at least 6% (4/65) of ARNSHL in GJB2-negative Turkish families from the northeast and east of Turkey.

Amino Acid Sequence↗
PubMed2005

[Nosocomial Stenotrophomonas maltophilia infections in a university hospital].

Stenotrophomonas maltophilia is a nosocomial pathogen of increasing importance. In our study, 190 S. maltophilia strains isolated from 153 hospitalized patients between January 2000-April 2004, at Farabi Hospital at Medical School of Karadeniz Technical University, were prospectively evaluated. Of these patients 67.9% were clinically compatible with nosocomial infection, and 32% were considered as colonization. It was observed that rate of infection had a tendency to increase one year of age and above 50 years of age. Nosocomial infection and/ or colonization with S. maltophilia was detected in 19.7 +/- 15.2 (1-89) days after hospitalization. The clinical manifestations were bacteremia (36.5%), pneumoniae (28.8%), urinary system infection (12.5%), surgical site infection (11.5%) and peritonitis (6.7%). The bacteremia episodes were associated with central venous catheter in 37.3% (19/51), ventilator associated pneumonia in 11.7% (6/51), urinary system infection in 7.8% (4/51), peritonitis in 3.9% (2/51), and surgical site infection in 1.9% (1/51) of cases. Nineteen patients (37.3%) had no apparent primary source of infection. Higher APACHE II score, longer duration of hospitalization and prior extended-spectrum antibiotic therapy were observed in most of the patients. Antibiotic susceptibility testing revealed that, the most effective antibiotics against the isolates were trimethoprim-sulfamethoxazole (94%), ticarcillin/clavulanate (79%) and ciprofloxacin (53.5%). Crude mortality rate in the patients with S. maltophilia infections was found to be 25%. In addition, it was observed that proper antibiotic treatment had protective role against mortality (14.6% vs 63.6%; OR = 0.1, Cl95 0.12-0.42, P = 0.000). It can be concluded that to prevent infections due to S. maltophilia , effective infection control programmes and rational antibiotic use policies should be established promptly.

Adolescent↗
PubMed2003

Multifocal intradiploic cavernous hemangioma of the skull associated with nasal osteoma.

OBJECTIVE: To present a 42-year-old female patient with multifocal cavernous hemangioma of the skull associated with nasal osteoma. DESIGN: A case report. INTERVENTION METHODS: X-rays, computerized tomography, magnetic resonance imaging, and histopathology were used to achieve the diagnosis of this rare entity. The multiple cavernous hemangiomas were resected en-bloc and a curettage biopsy was obtained from the nasal osteoma. RESULTS: The patient healed well after the operation. No recurrences of the cavernous hemangiomas were observed after one-year follow-up. CONCLUSION: Multifocal cavernous hemangiomas are rare benign lesions of the calvarium, arising from the intrinsic vasculature of the bone. Although they are benign, radiological findings are not always characteristic and their multiple presentation may easily make surgeons consider the other malignancies of the skull in the differential diagnosis. Histopathologic confirmation of the tumor is the definitive method for diagnosis. The treatment of choice is early en bloc resection of the tumour where it is possible.

Adult↗
PubMed2000

Melkersson-Rosenthal syndrome: report of three cases.

Melkersson-Rosenthal syndrome is a rare disorder consisting of the triad of persistent or recurrent orofacial edema, relapsing facial paralysis and fissured tongue. It is far more uncommon to find the complete triad since it generally presents in oligosymptomatic forms. We present three cases of the Melkersson-Rosenthal syndrome with the classic triad of symptoms and discuss the etiology and the clinical and electromyography findings of this syndrome.

Action Potentials↗
PubMed2000

Endocarditis caused by Stenotrophomonas maltophilia.

Stenotrophomonas maltophilia is frequently isolated from hospital environments. In recent years, it has been reported that this bacterium is causing hospital infections at increasing rates and is gaining importance because of its multiple resistance. Although it has been related to several infections, endocarditis caused by S. maltophilia is rarely encountered. In this case study, endocarditis in a 40-y-old man with a history of aortic valve replacement is presented. Blood cultures revealed S. maltophilia to be the aetiological agent, which showed multiresistance to various antibiotics. Ticarcillin-clavulanate and trimethoprim-sulfamethoxazole were used in the treatment.

Adult↗
PubMed1998

Myringoplasty in children: factors influencing surgical outcome.

Age, size, and site of perforation, condition of the ear, status of the contralateral ear, grafting materials, and more are considered factors influencing the success rates in myringoplasties in children. The ambivalence in results is mainly due to nonhomogeneous patient groups. In an effort to compose groups as homogeneous as possible for analysis of influencing factors, a retrospective study of 51 pediatric myringoplasty cases (51 ears) was undertaken. All patients had perforations caused by simple chronic otitis media. The overall surgical success rate was 82.3% at 18 months, and for young (5 to 10 years) and older (11 to 16 years) children it was 77.2% and 86.2%, respectively. Anterior, central, and total perforations healed without significant differences. Outcome in unilateral perforations was better than bilateral: 96.9% and 55%, respectively (p < 0.01). Discharging ears (100%) healed better compared with dry ears (75%) (p < 0.05). Analysis of the literature also revealed significant difference in success rates of discharging and dry ears: 92.5% and 80.6%, respectively (p < 0.01). We conclude that, contrary to comments in the literature, discharging ears in children favor good outcome and they should be operated on regardless of age and site of perforation. However, in bilateral perforations results may not be so rewarding.

Adolescent↗
PubMed1994

Morphometric evaluation of paranasal sinuses for endoscopic sinus surgery.

Endoscopic surgical treatment of paranasal sinus infections is currently being applied in many Otorhinolaryngology Clinics. Although high rates of success are reported with this treatment method, life threatening complications sometimes do occur due to disorientation, especially when angled telescopes are used. In order to avoid such complications, we evaluated the distances from the anterior nasal spine to various important anatomic structures encountered during endoscopic surgery. The measurements obtained by a morphometric anatomic study of cadavers are presented in this study. We believe that if surgery is carried beyond the measured distances, serious complications may ensue during endoscopic surgery.

Aged↗
PubMed1994

An endoscopic and tomographic evaluation of patients with sinusitis after endoscopic sinus surgery and Caldwell-Luc operation: a comparative study.

To evaluate the outcome of surgery using objective methods in patients with sinusitis after endoscopic sinus surgery (ESS) and Caldwell-Luc operation, we randomly selected 37 Caldwell-Luc-operated and 40 ESS-applied cases. Selected patient groups were assessed and compared by endoscopic examination and computed tomography (CT). CT was found to be normal in 12% of Caldwell-Luc-operated sides in comparison to 75% of ESS-applied sides. Endoscopy revealed a patency rate of the windows as 48% in Caldwell-Luc-operated and 86.7% in ESS-applied sides. Fibrosis and abnormal bony changes of the maxillary sinus were encountered in more than half of Caldwell-Luc-operated cases. In conclusion, ESS has a much higher rate of cure compared to the Caldwell-Luc operation if subjective and objective evaluation methods (CT and endoscopy) are applied.

Adolescent↗
PubMed1994

Concha bullosa.

Concha bullosa is one of the most common, obstructive, anatomic variants seen in patients with sinusitis. In this study, a total of 160 patients with sinusitis were evaluated to study both the effects of concha bullosa on the distribution of opacification to the paranasal sinuses as well as the relations between the types of concha bullosa (CB) and ostiomeatal complex disease (OMCD). Our results show that CB does not necessarily have influence on the distribution of mucosal changes to paranasal sinuses. Furthermore, in the presence of OMCD, no significant difference statistically was found between patients with CB and those without. However, when the types of CB are considered, OMCD is found to be more frequent if the pneumatization is localized to the inferior half of the middle turbinate, such as in bulbous and extensive types of CB.

Acute Disease↗
PubMedDate not supplied

Morphometric evaluation of the infralabyrinthine approach to the internal auditory canal.

Morphometric evaluation of the infralabyrinthine approach to the internal auditory canal (IAC) was performed using 20 fresh human temporal bones in order to assess the exposure limitations, inherent risks and technical difficulties that may arise due to common anatomic variations of this region. While performing the infralabyrinthine approach to the IAC, minor problems such as an anteriorly placed sigmoid sinus were easily managed. However, in 50% of the specimens, this approach was limited due to variations of the jugular bulb, restricting access to the IAC. Sacrificing the endolymphatic duct in these specimens did not significantly improve the surgical access to the eighth nerve. Furthermore, it was noted that this approach puts the facial nerve and cochlea under the risk of inadvertent damage during drilling. The authors conclude that vestibular nerve sectioning using the infralabyrinthine approach may be performed only in few selected cases and extreme care is needed in order not to damage the structures that limit this approach.

Adult↗