Single-plate versus double-plate comparison in the surgical treatment of comminuted clavicle fractures: Is the secondary plate reliable?

The objective of this study is to retrospectively assess the use of single-plate (SP) and double-plate (DP) fixation in the open reduction and internal fixation of comminuted clavicle fractures, focusing on fracture union and complications. We retrospectively evaluated comminuted diaphyseal clavicle fractures (Arbeitsgemeinschaft für Osteosynthesefragen type 15.B1-3) treated with open reduction and internal fixation and having a minimum 1-year follow-up. Two patient cohorts were identified: DP (utilizing a superiorly located clavicle-specific plate and an anteriorly located tubular plate) and SP (utilizing a superiorly located clavicle-specific plate). These groups were compared in terms of union time, peri-incisional numbness, implant irritation, return to work time, union rates, re-operation rates, Disabilities of Arm, Shoulder and Hand (DASH), and American Shoulder and Elbow Surgeons (ASES) scores. The study included 27 SP and 23 DP patients meeting the inclusion criteria. There was no significant difference between the 2 cohorts in terms of union time, peri-incisional numbness, implant irritation, return to work time, union rates, re-operation rates, DASH, and ASES scores at the end of the first year (P = .889, P = 1.00, P = .122, P = 1.00, P = 1.00, P = .493, P = .736, P = .762, P = .937 respectively). However, it was observed that the DP group showed a significantly earlier return to work time and better DASH scores at 3rd and 6th months, whereas the SP group exhibited significantly better ASES scores at 3rd and 6th months (P = .034, P = .016, P = .032, P = .036, P = .021, respectively). No significant difference was observed in terms of union and complications in acute clavicle fractures treated with SP and DP fixation. The DP group demonstrated an earlier return to work and superior early functional scores compared to the SP group. Our findings suggest that a secondary plate can be reliably used, particularly in situations where clavicle fracture fixation is insufficient or in cases of comminuted clavicle fractures.

Mutations of BRCA1/2 Genes in the West of Turkey and Genotype-Phenotype Correlations.

BACKGROUND: Mutations of the BRCA1/2 genes are associated with increased breast and ovarian cancer. The aim of this study was to investigate the founder mutations of the BRCA1 and BRCA2 genes in the Turkish population in the Aegean region as well as their genotype-phenotype correlations. METHODS: All the patients were provided with BRCA1/2 testing criteria according to the National Comprehensive Cancer Network. QIAseq Targeted DNA Panels were used for the BRCA1/2 coding regions. RESULTS: Of the 181 studied patients, 38 (21%) were found to carry pathogenic or likely pathogenic mutations, while 20 (11%) patients were found to carry variants of unknown significance. The most common pathogenic mutations were NM_000059.4:c.2765dup in the BRCA2 gene and NM_007300.4:c.981_982del and NM_007294.3:c. 5266dup in the BRCA1 gene. p.Lys3326* was the most frequently detected variant of unknown significance (6/ 181). Regarding genotype-phenotype correlations, the NM_007300.4:c.981_982del mutation in BRCA1 gene was found to be milder in terms of breast cancer. The most frequent cancers other than those related to BRCA genes, observed in the relatives of the patients who had pathogenic variants and variants of unknown significance, were endometrium cancer and leukemia, respectively. CONCLUSIONS: NM_007294.3:c.5266dup was found to be a candidate founder mutation in the Turkish population. NM_007300.4:c.981_982del mutation seems to have a milder course in terms of breast cancer. A significantly increased frequency of p.Lys3326* variant in breast cancer and ovarian cancer patients compared with that in the 1,000 Genomes Project suggesting that this variant has a slight effect on BRCA2 function.

Comparison of Changes in SRS-22 Values with Improvement in Cobb Angles after Posterior Fusion Surgery in Adolescent Idiopathic Scoliosis.

INTRODUCTION: The purpose of this study was to evaluate the relationship between the correction rate in Cobb angle and the improvement in quality of life profile in terms of Scoliosis Research Society (SRS)-22 values. PATIENTS AND METHODS: Between January 2007 and December 2013, posterior instrumentation and fusion was performed to 30 patients with adolescent idiopathic scoliosis (AIS). Patients were grouped according to their improvement rate in Cobb angles after surgery. Patients with an improvement rate of > 80% were grouped as Group A; those with an improvement rate of > 60% and ≤ 80% as Group B and those with an improvement rate of ≤ 60% were grouped as Group C. The SRS-22 questionnaire of these three groups was calculated and their relationship with the improvement in Cobb angle was evaluated. RESULTS: No statistical difference was found among the three groups in terms of pain, appearance, function, spirit, satisfaction, and SRS-22 values (all p > 0.05). CONCLUSION: The results of this study demonstrate that the degree of correction rate does not correlate with the degree of improvement in the SRS-22 questionnaire in patients with AIS that underwent posterior fusion and instrumentation.

Coinheritance of novel mutations in NAGLU causing mucopolysaccharidosis type IIIB and in DDHD2 causing spastic paraplegia54 in a Turkish family.

Mucopolysaccharidosis type IIIB (MPSIIIB) is one of the lysosomal storage diseases, clinically related to developmental delay in the early phase and loss of skills in the late phases of the disease. The disease is caused by homozygous mutations in the NAGLU gene. Spastic paraplegia54 (SPG54) is a neurodegenerative disorder caused by homozygous mutations in the DDHD2 gene. Clinical features are progressive spasticity and weakness in the lower limbs and corpus callosum agenesis. We report on two siblings in a consanguineous family, presenting both the clinical and molecular diagnoses of MPSIIIB and SPG54 with novel mutations by using whole exome sequencing (WES). This interesting finding shows that we should be aware of the importance of using WES for diagnosing rare diseases in consanguineous families.

NF-Ä¸ß upregulates ADAMTS5 expression by direct binding after TNF-α treatment in OUMS-27 chondrosarcoma cell line.

Inflammation caused-aggrecan degradation is a critical event in the pathogenesis of osteoarthritis (OA). The aggrecanases like a disintegrin and metalloproteinase with thrombospondin motifs 5 (ADAMTS5) are assumed to be key players in the aggrecan destruction. To develop the comprehensive therapy method for OA, it is essential to elucidate the activation mechanism of ADAMTS5 gene after stimulation of inflammatory cytokines like tumor necrosis factor-α (TNF-α). The cell lines of human chondrosarcoma (OUMS-27) and embryonic kidney (HEK293T) were incubated with tumor necrosis factor-α (TNF-α) for certain time periods, and the expression level of ADAMTS5 was measured in both mRNA and protein levels. Tissue-specific ADAMTS5 activation was founded to be induced after TNF-α treatment. Then, the constructs for the promoter region of ADAMTS5 were prepared and luciferase assay was conducted to understand the involvement mechanism of nuclear factor-kappa beta (NF-ĸß) in ADAMTS5 activation. It was demonstrated that NF-Ä¸ß induces the ADAMTS5 expression level by directly binding the promoter region of ADAMTS5. Although the TNF-α blocker is used for OA treatment, the development of a more comprehensive treatment strategy is an urgent need. Our experimental data contributes in terms of selecting NF-Ä¸ß as a target molecule. Up to date, NF-Ä¸ß has been proven to involve in the ADAMTS5 up-regulation after several pro-inflammatory cytokines stimulation. In conclusion, our findings make important contributions to the knowledge about the roles of NF-Ä¸ß in ADAMTS5 activation under inflammatory conditions. So, NF-Ä¸ß could be considered to be a potential target for OA treatment.

A new clinical entity in T704M mutation in periodic paralysis.

Periodic paralyses (PPs) are a group of rare disorders characterized by episodic, sudden-onset, flaccid paralysis of skeletal muscles usually resulting in complete recovery after the attacks. PPs are caused by abnormal, mostly potassium-sensitive excitability of the muscle tissue. Hypokalemic and hyperkalemic periodic paralysis (HypoKPP and HyperKPP) have been described according to their characteristic phenotypes and the serum potassium level during the attacks of weakness. The T704M mutation on the SCN4A gene is the most common mutation in HyperKPP. Different mutations of the SCN4A gene have also been reported in some cases of HypoKPP. In this study, a large Turkish family carrying the T704M mutation on the SCN4A gene with HypoKPP disease was examined. A similar history was noted in a total of 17 subjects in the pedigree. SCN4A gene of the patients was sequenced with Sanger sequencing. In this study, this mutation was associated with a HypoKKP diagnosis for the first time in the literature. The symptoms of hallucination and diplopia seen in patients had also never been indicated in the literature before. This report expands the phenotypic variability of the T704M mutation, further confirming the lack of genotype-phenotype correlation in SCN4A mutations.