NLRP3 GENE MUTATION IN A PATIENT WITH RECURRENT APHTHOUS LESIONS

Kinar, Abdullah/0000-0002-2968-4165WOS: 000526121600055Objectives: Chronic recurrent oral aphthous ulcers are frequent inflammatory reactions of the oral mucosa. in this report, a patient with NLRP3 mutation is reported. Case report: An 18-year-old male patient presented to the outpatient clinic with the complaint of recurrent aphthous ulcers. the patient had a history of recurrent, painful aphthous lesions varying in size in the base of the mouth, on the tongue, and in the inner lip. the aphthous ulcers healed with time and had been recurring every 3-4 months in different parts of the mouth since childhood. There was no fever, no abdominal pain, and no genital ulcers. Medical genetic analysis was performed and a heterozygous mutation in the NLRP3 gene, heterozygous mutation in the MEFV gene, and heterozygous mutation in the MVK gene were determined. the patient was also a carrier of familial Mediterranean fever. Colchicine treatment was administered. the patient's oral aphthous lesion attacks and their frequency were followed for about 1 year and the complaints decreased. Conclusion: Physicians should maintain a broad perspective while treating patients with recurrent aphthous complaints. Medical genetic analyses of such patients should also be performed if necessary. in this way, unnecessary treatments will be prevented and drug use will be limited. the prognosis of the disease will be improved and the risk of complications will be reduced

Comparison of classical methods versus BACTEC blood culture system for culture of normally sterile body fluids

Background — Presence of microorganisms in sterile body sites leads to life-threatening infections. For early and accurate diagnosis of those infections, cultures of the sterile fluids have to be done. These cultures can not always detect the causative agents due to insufficent number or fastidious growing of the probable microorganisms in the material. Objectives — In this study, it was aimed to compare sterile body fluid cultures which had been processed with both conventional culture methods and BACTEC automatized blood culture system retrospectively. Material and Methods — A total of 138 body fluid cultures were compared retrospectively from the laboratory records. Results — Amongst the specimens, 122 cultures were negative. Nine of the rest 16 specimens were positive with both culture methods and seven cultures were positive with BACTEC only. None of the specimens which were negative in BACTEC system revealed positive with the conventionel method. BACTEC detected significantly higher number of positivity (P<0.001). No significant difference was found between the methods due to contamination (P=0.183). Conclusion — In conclusion, our study shows that inoculation of the sterile body fluid specimens into blood culture bottles and incubation of them in BACTEC system as well as culturing with conventional methods increase the detection rate of probable causative agents

Damak ve parafarengeal bölgeden kaynaklanan farklı iki dev pleomorfik adenom olgusu

Pleomorphic adenoma is the most common of minor salivary gland tumors. Pleomorphic adenoma of minor salivary glands are commonly located on the palate nevertheless rarely may originate from the parapharyngeal region. Pleomorphic adenomas on the palate show slow growth over the years. The tumors that originate from the parapharyngeal region could reach great dimensions. In this case report, an orphan and neglected geriatric patient who had giant pleomorphic adenoma on the palate and a young patient with a giant pleomorphic adenoma that was excised by transcervical approach without additional surgical procedures at the parapharyngeal region, were presented.Minör tükürük bezi kaynaklı tümörler arasında en sık görü- len pleomorfik adenomdur. Minör tükürük bezi kaynaklı pleomorfik adenom en sık damakta görülüp, parafarengeal bölgede nadiren karşımıza çıkar. Damak pleomorfik adenomları yıllar içinde yavaş büyüme gösterirler. Parafarengeal bölgeden kaynaklananlar büyük boyutlara ulaşabilirler. Bu makalede kimsesiz ve bakımsız kalmış geriatrik bir hastada damak bölgesinde yerleşik oldukça büyük boyutlara gelmiş pleomorfik adenom olgusu ile genç bir hastada yine oldukça büyük boyutlara ulaşmış ve ek cerrahi prosedüre ihtiyaç kalmadan transservikal yaklaşımla çıkartılabilmiş plemorfik adenom olgusu sunuldu

Evaluation of the Newborn Hearing Screening Test Applied in a Secondary Center

Objective: It was aimed to assess the protocols and results of scanning tests retrospectively done at Afyon Zubeyde Hanim Gynecology and Pediatrics Hospital, Au­diometric Scanning Department Methods: In this study 23.396 scanning tests of the babies between 0-6 months and born on 01.04.2010-31.01.2014 are analyzed retrospectively. Completely healthy newborn babies were included in the study. Babies with congenital anomalies, those diagnosed with syndrome and prema­ture babies were not included in the study. Audiometric scanning is assessed in two steps by Otoacoustic Emis­sions method (T-OAE). The first scanning is applied to the newborns before they are discharged from the hospital. Results: 23.396 babies are assessed by the T-OAE method in Zübeyde Hanım Maternity and Children Hos­pital between the dates; April, 2010-January, 2014. At the end of the two-step method T-OAE, 572 babies are sent to the reference centre. Out of these babies 37 (0.15%) portion is found to have two-sided and 2 (0.008%) is found to have one-sided sensorineural hearing loss. Conclusion: In our country with the increase in audio­metric scanning the number of babies having treatment has increased. In this study also the hearing loss doubt found at new born babies is at a proportion not less than the other studies relatively

Grisel’s Syndrome: A Rare Complication following Adenotonsillectomy

Grisel’s syndrome is a nontraumatic atlantoaxial subluxation which is usually secondary of an infection or an inflammation at the head and neck region. It can be observed after surgery of head and neck region. Etiopathogenesis has not been clearly described yet, but increased looseness of paraspinal ligament is thought to be responsible. Patients typically present with painful torticollis. Diagnosis of Grisel’s syndrome is largely based on suspicion of the patient who has recently underwent surgery or history of infection in head and neck region. Physical examination and imaging techniques assist in diagnosis. Therefore, clinicians should be aware of acute nontraumatic torticollis after recently applied the head and neck surgery or undergone upper respiratory tract infection. In this paper, a case of an eight-year-old male patient who had Grisel’s syndrome after adenotonsillectomy is discussed with review of the literature

A Retrospective Study on Clinico-Pathological Presentations and Complications of Parotidectomy

Introduction Salivary gland tumors are rarely seen. It constitutes approximately 3% of all head-neck tumors. 75-80% of these tumors originate from the parotid gland. In this study, 98 patients who underwent parotidectomy in a tertiary otorhinolaryngology clinic were analyzed retrospectively, the frequency of different pathologies and our treatment modalities for parotid masses are presented in the light of current literature. Materials and Methods In this study, 98 patients who underwent parotidectomy in our clinic between 2011 and 2018 were retrospectively analyzed, the frequency of different pathologies, our treatment approach, and complications of treatment for parotid masses are presented in the light of current literature. Results The mean age was 48 years (between the range of 7-82 years). 41  cases were female and 57  cases were male. In the results of FNAB, there were 65 (66%) benign cases, 28 (29%) malignancy suspects and 5 (5%) malignant cases, 68 (69%) benign cases, and 30 (31%) malignant cases in surgical pathologies. The most frequent lesion of all parotid masses was pleomorphic adenoma (24%). The most common benign lesion was pleomorphic adenoma (35%) and the most frequent malignant tumor was mucoepidermoid carcinoma (27%). The most common surgery type was superficial parotidectomy (82 cases). The most common complication was marginal mandibular nerve paresis (6). Conclusion The treatment modality of the parotid tumors varies from case to case according to the nature of the tumor and extension

Inner Ear Involvement in Children with Familial Mediterranean Fever

OBJECTIVE: Familial Mediterranean fever (FMF) is the most common and best understood disease of hereditary periodic fever syndromes. Various degrees of sensorineural hearing loss can be seen in the progression of some hereditary periodic fever syndromes. There are very limited and controversial studies in the literature with regard to hearing loss in patients diagnosed with FMF. We aimed to evaluate cochlear function in children with FMF. MATERIALS and METHODS: Forty-nine patients diagnosed with FMF and 49 age- and sex-matched controls were included in the study. All of the children had undergone a routine ear-nose-throat examination. Patients with pathological findings in the otologic examination or a history of recurrent otitis media; using proven ototoxic drugs; or having an abnormal tympanometry finding were excluded from the study. Following audiologic evaluation, tympanometry and distortion product otoacoustic emissions testing were conducted on all subjects. Pure-tone and high-frequency audiometry were carried out on 40 subjects from both groups who could cooperate in the testing. RESULTS: Hearing thresholds of FMF patients were found to be increased at all frequencies (250 to 16,000) (p<0.001). The difference between the hearing thresholds of the two groups could be seen more prominently at higher frequencies, and despite a statistically significant difference, the hearing thresholds of the two groups were within the normal range of tonal audiometry frequencies. In the otoacoustic emission evaluation, the distortion products and signal/noise ratio of children with FMF were lower in the tested frequencies from 1000 to 4000 Hz (p<0.001). CONCLUSION: Our results demonstrated that FMF disease may cause hearing loss in children with FMF. Hearing loss in children with familial Mediterranean fever has been observed, showing increased hearing thresholds at all frequencies in audiometry, together with decreased distortion products and signal: noise ratios, demonstrated by distortion product otoacoustic emissions testing. We think this might be due to cochlear involvement. Regular follow-up of auditory function in FMF children may be helpful for determining early possible hearing loss

A Role for Mast Cell-Mediated Antibodies in the Formation of Cholesteatoma and Cholesteatoma-Induced Bone Erosion

The study aimed to evaluate the effects and relationships between mast cells in the matrix, mast cell enzymes tryptase and chymase, epithelial proliferation, microvascular density, and bone destruction in cholesteatoma. Thirty-five biopsies diagnosed with cholesteatoma and seven healthy skin tissues taken from the retro-auricular region for control were evaluated. Immunohistochemical studies were performed with CD117, CD34, Ki-67, chymase, and tryptase antibodies, in a single session for all cases and the control group. The relationship between erosion size and antibody load was determined. The mean cholesteatoma epithelium Ki-67 was higher than the control group (p &lt; 0.001). CD117-positive mast cells, chymase-positive mast cells, tryptase-positive mast cells, and microvessel density were significantly higher in the cholesteatoma matrix compared to the control group (p &lt; 0.002, p &lt; 0.001, p &lt; 0.005). In the group with bone erosion scores of two and above, immunohistochemical markers tended to be higher. A positive correlation was found between CD117 and chymase, tryptase, and microvessel density; between tryptase, chymase, and microvessel density; and between chymase and microvessel density. CD117-positive mast cells and chymase-positive mast cells stimulate angiogenesis, increase the epithelium&rsquo;s proliferative capacity in the cholesteatoma matrix, and form cholesteatoma. The increased proliferation of cholesteatoma epithelium and increased vascular density in the matrix exacerbate bone erosion

A Role for Mast Cell-Mediated Antibodies in the Formation of Cholesteatoma and Cholesteatoma-Induced Bone Erosion

The study aimed to evaluate the effects and relationships between mast cells in the matrix, mast cell enzymes tryptase and chymase, epithelial proliferation, microvascular density, and bone destruction in cholesteatoma. Thirty-five biopsies diagnosed with cholesteatoma and seven healthy skin tissues taken from the retro-auricular region for control were evaluated. Immunohistochemical studies were performed with CD117, CD34, Ki-67, chymase, and tryptase antibodies, in a single session for all cases and the control group. The relationship between erosion size and antibody load was determined. The mean cholesteatoma epithelium Ki-67 was higher than the control group (p p p p < 0.005). In the group with bone erosion scores of two and above, immunohistochemical markers tended to be higher. A positive correlation was found between CD117 and chymase, tryptase, and microvessel density; between tryptase, chymase, and microvessel density; and between chymase and microvessel density. CD117-positive mast cells and chymase-positive mast cells stimulate angiogenesis, increase the epithelium’s proliferative capacity in the cholesteatoma matrix, and form cholesteatoma. The increased proliferation of cholesteatoma epithelium and increased vascular density in the matrix exacerbate bone erosion

Damak ve parafarengeal bölgeden kaynaklanan farklı iki dev pleomorfik adenom olgusu

Pleomorphic adenoma is the most common of minor salivary gland tumors. Pleomorphic adenoma of minor salivary glands are commonly located on the palate nevertheless rarely may originate from the parapharyngeal region. Pleomorphic adenomas on the palate show slow growth over the years. The tumors that originate from the parapharyngeal region could reach great dimensions. In this case report, an orphan and neglected geriatric patient who had giant pleomorphic adenoma on the palate and a young patient with a giant pleomorphic adenoma that was excised by transcervical approach without additional surgical procedures at the parapharyngeal region, were presented.Minör tükürük bezi kaynaklı tümörler arasında en sık görü- len pleomorfik adenomdur. Minör tükürük bezi kaynaklı pleomorfik adenom en sık damakta görülüp, parafarengeal bölgede nadiren karşımıza çıkar. Damak pleomorfik adenomları yıllar içinde yavaş büyüme gösterirler. Parafarengeal bölgeden kaynaklananlar büyük boyutlara ulaşabilirler. Bu makalede kimsesiz ve bakımsız kalmış geriatrik bir hastada damak bölgesinde yerleşik oldukça büyük boyutlara gelmiş pleomorfik adenom olgusu ile genç bir hastada yine oldukça büyük boyutlara ulaşmış ve ek cerrahi prosedüre ihtiyaç kalmadan transservikal yaklaşımla çıkartılabilmiş plemorfik adenom olgusu sunuldu