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

Facial paralysis caused by the bee sting

Bee sting is one of the most common insect poisoning. It usually begins with local symptoms such as pain, redness, and fever following a local pain. Rarely, anaphylaxis, myocardial infarction, organ failure, epilepsy and other neurological diseases have been reported. Peripheral facial paralysis is one of the common diseases of the otolaryngology clinic. Although it is usually idiopathic, trauma and tumors are the two most common causes. Topographic and electrophysiological tests are used in the diagnosis. In this presentation, peripheral facial paralysis due to bee sting will be discussed. An 18-year-old male patient was admitted to our emergency service with an apical sting in the left mastoid region for two hours before the operation. Ear nose throat examination was normal. Right facial paralysis was present. The patient was discontinued in 12 days with a dose of 3 mg per day starting from 1 mg / kg of Feniramin 1 * 1 and methyl prednisolone. Pheniramin 1 * 1 and methyl prednisolone 1 mg / kg were started and the dose was cut in 12 days Symptoms of the patient decreased from day 10 and returned to normal at 15th day. [Med-Science 2019; 8(4.000): 1025-7

Comparison of therapeutic efficacy of antihistaminics and combinations of montelukast with allergic rhinitis

Allergic Rhinitis is basically a chronic disease that decreases quality of life. Antihistaminics have been used for the first time in allergic rhinitis. In the search for an alternative treatment in resistant allergic rhinitis, Montelukasts and their combinations have been used. Randomized double-blind controlled study. In our study, the effect on the quality of life of the compounds used recently be compared after 3 months of treatment. In this study, 7 groups of 40 patients, 18-65 years old were planned for each group. The number of females and males was equal in each group (20). The patients in group A and group B will be called for checks after 3 months of medical treatment in the C-D-E-F-G-H group without treatment for 3 months. The patients in Group C received 10 mg Rupatadin Fumarate tablets orally (1 * 1 single dose) before bedtime, 5 mg Levosetirizine Dihydrochloride tablets in the patients in Group D orally (1 * 1 single dose) before bedtime, 10 mg Montelukast Sodium tablets in patients in Group E Before oral (1 * 1 single dose), patients in Group F 5 mg Desloratadin + 10 mg Montelukast Sodium tablets orally (1 * 1 single dose) before bedtime, and patients in Group G Levocetirizine Dihydrochloride + 10 mg Montelukast Sodium tablet orally before bedtime (1 * 1 single dose) will be given. These treatments will continue for 3 months without interruption. The Rinokonjucivations Quality of Life Questionnaire (RQLQ) will be completed with a total of 28 questions. No significant superiority of the Rupatadine molecule to levocetirizine was detected. The score of the Montelukast areas was significantly low when compared to the Rupatadine and Levosetirizine groups. Combined Montelukastes were found to be much more effective than single antihistaminics and single montelukast. There was no difference in quality of life between the combined Montelukast. Antihistaminics are the first treatment option in patients with allergic rhinitis,In resistant cases, combinations with montelukast should be used. [Med-Science 2019; 8(4.000): 967-70

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

The Effect of Education in Reducing Noise on Health Personnels' Knowledge Level and Behavioral Change

Objective: Noise must be reduced and taken under control because negatively affects the health of health personnel and preterm newborns in particular. The American Academy of Pediatrics reported that noise levels must be kept below 45 dB. However, many studies demonstrated that the desired level could not be reached. This research was conducted with the aim of evaluating the level of noise in a neonatal intensive care unit (NICU), and the effect of given education on controlling the noise

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

Effects of mirtazapine on cisplatin cardiotoxicity in rats

Atypical antidepressant mirtazapine (MIR) is primarily used to treat major depressive disorder. It has not been clarified whether cardiovascular uncertainties and mechanisms of action emerge as problems during the use of mirtazapine. Cisplatin (CIS) is an effective anti-cancer medication used to treat a variety of human malignancies. There were four groups of 32 Wistar albino male rats in all. Rats were split into 4 groups at random. 1. Control Group, 2. CIS Group, 3. MIR Group, 4. MIR+CIS Group. On the 15th day of the study, ECG, heart rate, and blood pressure were determined. Histopathological and biochemical analyses were carried out on cardiac and vascular tissue samples. Comparing the CIS group to the other groups, blood pressure was considerably lower in the CIS group (p [Med-Science 2023; 12(2.000): 579-86

High-dose thiotepa, etoposide and carboplatin as conditioning regimen for autologous stem cell transplantation in patients with relapsed or refractory germ cell tumors

Purpose: As well as standard chemotherapy, autologous stem cell transplantation (ASCT) is also seen as a good therapeutic alternative in the relapsed/refractory germ cell tumors (GCT). The combination of thiotepa, carboplatin and etoposide (TECA) is also one of the high-dose chemotherapy options that can be used before ASCT. Except a phase-II study there are no large studies conducted with the TECA regimen in GCT. In this study, we aimed to evaluate the efficacy and toxicity of the TECA regimen in patients who underwent ASCT. Methods: Patients who underwent ASCT with TECA for relapsed/refractory GCT in our center between 2013-2020 were included in the study. Results: The median age of 15 patients included in the study was 31 years (19-46). The majority of patients (n=12; 80.0%) had a diagnosis of non-seminoma GCT. All of the patients had previously received bleomycin, etoposide, cisplatin (BEP) combination chemotherapy. They were relapsed/refractory to platinums and had at least one distant metastasis. ASCT was administered as a second-line therapy in 12 (80.0%) patients. In all patients etoposide, thiotepa and carboplatin were administered before ASCT as myeloablative therapy. Complete response was obtained in 6 (40.0%) patients and partial response in 5 (33.3%). The objective response rate was 73.3%. Three-year progression-free survival (PFS) was 43.1% and the estimated median PFS was 12.6 months (2.7- 41.7). The estimated median overall survival (OS) was 37.3 months and 3-year OS was 54.5%. None of the patients had ASCT-related death. Conclusions: High-dose TECA is an effective and safe myeloablative regimen for ASCT in relapsed/refractory GCT

Gemcitabine, dexamethasone and cisplatin (GDP) is an effective and well-tolerated mobilization regimen for relapsed and refractory lymphoma: A single center experience

Background/aim: Gemcitabine, dexamethasone and cisplatin (GDP) is a well-established salvage regimen for relapsed and refractory lymphomas. In this study, we aimed to share our experience with the patients who received GDP/R-GDP (rituximab-gemcitabine, dexamethasone and cisplatin) for stem cell mobilization. Materials and methods: Data of 69 relapsed and refractory Hodgkin lymphoma (HL) and Non-Hodgkin lymphoma (NHL) patients who received GDP/R-GDP as salvage chemotherapy in our center between July 2014 and January 2020 were retrospectively evaluated. After the evaluation of response, 52 patients had a chemosensitive disease and underwent mobilization with GDP/R-GDP plus G-CSF (granulocyte colony-stimulating factor). Collected CD34+ stem cells and related parameters were compared in terms of diagnosis of HL and NHL, early and late stage, patients who did not receive RT and those who received RT, and patients aged under 60 and over 60. Results: On the 15th day on average (range 11-20), a median number of 8.7 × 106 /kg (4.1-41.5) CD34+ stem cells were collected in 51 (98%) of our 52 chemosensitive patients and 1 (2%) patients failed to mobilize. We observed acceptable hematological and nonhematological toxicity. The targeted amount of 2 × 106 /kg CD34+ stem cells was attained by 98% (n: 51) patients, and all of them underwent autologous stem cell transplantation. Moreover, low toxicity profiles provide outpatient utilization option clinics with close follow-up and adequate supportive care. Conclusion: We suggest that GDP/R-GDP plus G-CSF can be used as an effective chemotherapy regimen for mobilizing CD34+ stem cells from peripheral blood in relapsed and refractory lymphoma patients due to low toxicity, effective tumor reduction, and successful stem cell mobilization. It can also be assumed that the GDP mobilization regimen may be more effective, especially in patients with early-stage disease and in HL patients