First-Line Molecular Genetic Evaluation of Autosomal Recessive Non-Syndromic Hearing Loss

Objective:The aim of this study is to investigate the efficiency of a first-line molecular genetic evaluation approach, in children with deafness.Methods:Patients who were found to have sensorineural hearing loss by age-appropriate audiological tests were selected for the molecular genetic evaluation. The molecular genetic evaluation was carried out with GJB2 gene sequence analysis and mtDNA m.1555A>G mutation Restriction Fragment Length Polymorphism (RFLP) analysis. Additionally, in a small group of patients, hearing loss Multiplex Ligation-dependent Probe Amplification (MLPA) analysis was done out to identify the possible role of copy number changes.Results:In this Turkish cohort, which included 104 index patients and 78 relatives, 33 (31.7%) had Pathogenic/Likely Pathogenic variants. One or more GJB2 sequence variants were identified in 46 (44.1%) of the 104 index patients. The homozygous c.35delG mutation by itself explained the etiology in 24% of our ARSNHL group. In one (5%) of the 20 patients of MLPA group, a hemizygous deletion in POU3F4 gene was detected.Conclusion:In our Turkish cohort, we applied a first-line molecular genetic evaluation approach using GJB2 gene sequence analysis and mtDNA m.1555A>G RFLP analysis. This approach revealed the genetic etiology of 44.1% of our index patients. Additionaly, the results of hearing loss MLPA analysis revealed the limited role of copy number changes in this patient group. Furthermore, with a detailed genotype-phenotype association workup, 2 rare cases of Deafness with Palmoplantar Hyperkeratosis and Keratitis-Ichthyosis-Deafness syndrome were reported

The use of higher proportions of platelet-rich plasma to enrich microfat has negative effects: A preclinical study

We read the article by Abellan Lopez et al. that was published in January of 2020 concerning the effect of higher proportions of platelet-rich plasma to microfat graft with great interest.1 The authors should be applauded for selecting this topic; however, we are concerned about some statements that should be discussed

Autologous biological vitamin-C-added (ABC) Filler for facial volume restoration

*Atan, Oğuz ( Aksaray, Yazar )Purpose: Face rejuvenation procedures with injectable agents continue to gain popularity. Nowadays, a variety of commercial products are available as filler material. Ideal fillers should be inexpensive, easily obtainable, nontoxic, and biocompatible. The aim of this study is to report a clinical perspective for an appropriate, feasible, and inexpensive protocol of a stable, autologous biological filler for facial volume restoring without any commercial kits. Methods: Eight patients were investigated who underwent facial injection with ABC filler. Eleven ml of whole blood was placed in standard tubes containing anticoagulant and for each patient, 8 tubes were prepared. After the centrifugation at 1630 xg for 5 minutes, the upper plasma was taken, calcium was added and cooled. After the addition of vitamin C, the syringes were incubated at 85 °C for 10 minutes. The autologous biological material obtained was used as filling material. For comparison, FACE-Q satisfaction questionnaires were used before and after the procedure. Results: All patients were followed up for a minimum of 4 months. No major complications were recorded. The patient-reported FACE-Q satisfaction and FACE-Q quality of life pre- and post-procedure results showed statistically significant improvement (p < 0.05). Overall satisfaction with the outcome was 89.12 ± 16.73 (range 55–100). Conclusions: ABC filler can be seen as a reliable, inexpensive, and easily obtainable material to restore facial volume with increased patient satisfaction and quality of life scores. We believe that our study will be encouraging to the application of autologous biological fillers for further clinical and scientific studies

Invited response on: autologous biological vitamin-C added (ABC) filler for facial volume restoration

Dear Sir, We would like to thank Pensato et al. for their valuable comments regarding our recent article entitled ‘‘Autologous Biological Vitamin-C-added (ABC) Filler for Facial Volume Restoration’’ [1]. We are pleased that this study raised such an interest in the scientific community to discuss a new biological filler. The subjects mentioned in our study consisted of individuals over the age of 18 years who had no relevant diseases and were free of any medication known to affect platelet functions, including acetylsalicylic acid and any other nonsteroidal anti-inflammatory drugs, during for 7 days before the application. In our recent study, total blood count including platelet count, leukocytes concentration and the platelet/leukocyte ratio was not checked from each patient before ABC filler procedure

Barbed sutures versus conventional tenorrhaphy in flexor tendon repair: An biomechanical analysis

Background The management of flexor tendon injuries has evolved in recent years through industrial improvements in suture materials, refinements of repair methods, and early rehabilitation protocols. However, there is no consensus on the ideal suture material and technique. This study was conducted to compare the tensile strength, repair time, and characteristics of 4-strand cruciate, modified Kessler, and 4-strand horizontal intrafiber barbed sutures for flexor tenorrhaphy with a 12-mm suture purchase length in an animal model. Methods The right third deep flexors of 60 adult Leghorn chicken feet were isolated and repaired with a 12-mm suture purchase length. The tendons were randomly assigned to three groups of equal number (n=20 each). Groups 1 and 2 received 4-strand cruciate and modified Kessler repair with conventional suture materials, respectively. A 4-strand horizontal intrafiber barbed suture technique was used in group 3. The repaired tendons were biomechanically tested for tensile strength, 2-mm gap resistance, and mode of failure. Repair times were also recorded. Results The maximum tensile strength until failure was 44.6±4.3 N in group 1, 35.7±5.2 N in group 2, and 56.7±17.3 N in group 3. The barbed sutures were superior to the other sutures in terms of the load needed for 2-mm gap formation (P<0.05). Furthermore, the barbed sutures showed the shortest repair time (P<0.05). Conclusions This study found that 4-strand horizontal intrafiber barbed suture repair with a 12-mm purchase length in a chicken flexor tendon injury model showed promising biomechanical properties and took less time to perform than other options

Autologous conditioned serum increases fat graft viability mmore than platelet-rich plasma in a controlled rat model

Platelet-rich plasma has been used to support fat graft retention, but it may include inflammatory mediators such as interleukin-1β. Autologous conditioned serum also contains high levels of various anti-inflammatory cytokines. The authors hypothesized that combining autologous conditioned serum with fat graft would increase fat graft survival more than platelet-rich plasma. Methods: Twenty-seven adult, male, Sprague-Dawley rats were divided into three groups of nine. Ten nonstudy rats were used to prepare platelet-rich plasma, autologous conditioned serum, and fat grafts. Next, 0.7-ml fat graft with a combination of 0.2 ml of autologous conditioned serum, platelet-rich plasma, or phosphate-buffered saline was applied to their dorsa. Fat graft volume was assessed on postoperative day 2 and on the day of euthanization at 1, 3, and 5 months postoperatively. Histopathologic analysis was performed to measure integrity, inflammation, fibrosis, and vascularization. Results: The median volume percentages and interquartile ranges at 1 month postoperatively were 97.3 percent (77.3 to 119.6 percent), 40.4 percent (30.9 to 46.9 percent), and 72.1 percent (53.6 to 84.9 percent) in autologous conditioned serum plus fat graft, phosphate-buffered saline plus fat graft, and platelet-rich plasma plus fat graft, respectively (p < 0.05); at 3 months postoperatively, values were 82.3 percent (70.3 to 88.3 percent), 36.6 percent (29.4 to 43.1 percent), and 48.3 percent (31.4 to 57.9 percent) (p < 0.001); and at 5 months postoperatively, values had increased to 83.9 percent (58.3 to 102.4 percent), 40.3 percent (20.1 to 50.6 percent), and 56.3 percent (37.7 to 74.9 percent), respectively (p < 0.05). Conclusions: Autologous conditioned serum and platelet-rich plasma improved fat graft outcomes compared to saline, whereas autologous conditioned serum was associated with less inflammation, greater fat viability, and more integrity. Clinical Relevance Statement: Combining fat graft with autologous conditioned serum may be a better option to minimize resorption rate and improve graft survival

Clinicopathological evaluation of Marjolin ulcers over two decades

Malignant changes arising on the previously traumatized or chronically inflamed skin are defined as Marjolin ulcers. They can develop on many different lesions but frequently they are detected on burn scars. Histopathologically, Marjolin ulcers are mostly diagnosed as squamous cell carcinoma and they need special attention when especially located on the lower extremities. In this study, 63 patients treated for Marjolin ulcers between January 2000 and March 2015 were evaluated according to etiology, histological differentiation, primary tumor size, patient age and anatomical localization. Medical records of these patients were reviewed retrospectively. Mean age was 49.7 years. Average interval between the first injury and carcinoma development was 37.9 years. Most frequent etiologic factor was burn scars with 82.5%. Foot was the most frequently affected site with 28.6% and scalp was the second most frequent localization with 25.4%. Squamous cell carcinomas were detected in 88.9% of the patients and basal cell carcinomas were detected in 11.1% of the patients. For treatment, excision and grafting was performed for 48 patients (76.2%), excision and local flaps were used for 10 patients (15.9%) and excision and free flaps were used for five patients (7.9%). Regional lymph node dissection was performed for 12 patients (19%). Average follow up period was 46.5 months. Local recurrences were detected in nine patients (14.3%). In conclusion, Marjolin ulcers are aggressive tumors that require special care. In order to prevent life threatening sequelas of this entity, it is important to know basic aspects of clinical progress, prognostic factors and treatment modalities

A computerized image database for freshwater algae recorded in Turkey

A computer-based image database for freshwater algae recorded in Turkey has been established. A separate page was prepared for each algal taxon and each page includes images and taxonomic and ecological information related to the taxon. Algal images were obtained mainly from authors of algal studies previously carried out in various freshwater bodies in Turkey. Data were then standardized in accordance with that of the central database of Turkish herbaria and a database for Turkish freshwater algae, which were previously established through TüBİTAK projects. Te database program Access was used to enter data, as this program recognizes Turkish characters. A total of 627 data with images were installed in the database. Tese belonged to Bacillariophyta (202 data), Chlorophyta (255 data), Chrysophyta (3 data), Cryptophyta (2 data), Cyanophyta (87 data), Dinophyta, (12 data), Euglenophyta (61 data), Prasinophyta (1 datum), Rhodophyta (1 datum), and Xanthophyta (3 data).A computer-based image database for freshwater algae recorded in Turkey has been established. A separate page was prepared for each algal taxon and each page includes images and taxonomic and ecological information related to the taxon. Algal images were obtained mainly from authors of algal studies previously carried out in various freshwater bodies in Turkey. Data were then standardized in accordance with that of the central database of Turkish herbaria and a database for Turkish freshwater algae, which were previously established through TüBİTAK projects. Te database program Access was used to enter data, as this program recognizes Turkish characters. A total of 627 data with images were installed in the database. Tese belonged to Bacillariophyta (202 data), Chlorophyta (255 data), Chrysophyta (3 data), Cryptophyta (2 data), Cyanophyta (87 data), Dinophyta, (12 data), Euglenophyta (61 data), Prasinophyta (1 datum), Rhodophyta (1 datum), and Xanthophyta (3 data)

A computerized image database for freshwater algae recorded in Turkey

A computer-based image database for freshwater algae recorded in Turkey has been established. A separate page was prepared for each algal taxon and each page includes images and taxonomic and ecological information related to the taxon. Algal images were obtained mainly from authors of algal studies previously carried out in various freshwater bodies in Turkey. Data were then standardized in accordance with that of the central database of Turkish herbaria and a database for Turkish freshwater algae, which were previously established through TüBİTAK projects. Te database program Access was used to enter data, as this program recognizes Turkish characters. A total of 627 data with images were installed in the database. Tese belonged to Bacillariophyta (202 data), Chlorophyta (255 data), Chrysophyta (3 data), Cryptophyta (2 data), Cyanophyta (87 data), Dinophyta, (12 data), Euglenophyta (61 data), Prasinophyta (1 datum), Rhodophyta (1 datum), and Xanthophyta (3 data).A computer-based image database for freshwater algae recorded in Turkey has been established. A separate page was prepared for each algal taxon and each page includes images and taxonomic and ecological information related to the taxon. Algal images were obtained mainly from authors of algal studies previously carried out in various freshwater bodies in Turkey. Data were then standardized in accordance with that of the central database of Turkish herbaria and a database for Turkish freshwater algae, which were previously established through TüBİTAK projects. Te database program Access was used to enter data, as this program recognizes Turkish characters. A total of 627 data with images were installed in the database. Tese belonged to Bacillariophyta (202 data), Chlorophyta (255 data), Chrysophyta (3 data), Cryptophyta (2 data), Cyanophyta (87 data), Dinophyta, (12 data), Euglenophyta (61 data), Prasinophyta (1 datum), Rhodophyta (1 datum), and Xanthophyta (3 data)