COMBINED PLATE VERSUS EXTERNAL FIXATION FOR DISTAL RADIUS FRACTURES

ABSTRACT Objectives: This study aimed to compare the functional and radiological results of patients who had intra-articular comminuted distal radius fractures and were operated on with external fixation percutaneous pinning or the volar-dorsal combined plate osteosynthesis. Methods: In this study, 49 patients operated on and followed up for the comminuted distal radius fractures between May 2015 and January 2019 were retrospectively evaluated. The surgical outcomes of the patients, who were operated on with combined dorsal-volar plate osteosynthesis or external fixation percutaneous pinning, were compared in this study. Functional and radiological scores were evaluated and analyzed statistically. Results: There was no statistical difference between external fixation and volar-dorsal combined plate groups regarding the Disabilities of the Arm, Shoulder, and Hand (DASH) questionnaire, the Visual Analog Scale (VAS), the Mayo scoring system, range of motion, and grip strength values. Discussion: Although the combined volar-dorsal plate osteosynthesis technique had a longer operation time and a more complicated surgical procedure, the combined volar-dorsal plate osteosynthesis had lower complication rates and permitted early mobilization. The combined volar-dorsal plate osteosynthesis could be an alternative to external fixation percutaneous pinning. Level of Evidence III, Therapeutic Studies Investigating the Results of Treatment

COL4A1-related autosomal recessive encephalopathy in 2 Turkish children.

OBJECTIVE: This study presents the neurologic phenotypes of 2 brothers with a novel homozygous COL4A1 mutation that was identified in a large Turkish consanguineous cohort of neurogenetic diseases. METHODS: Whole-exome sequencing and bioinformatic analysis of consanguineous families with children affected by early-onset, neurogenetic disorders was performed using the RD-Connect Genome-Phenome Analysis Platform. We also performed clinical, EEG, and neuroimaging analyses in unaffected siblings and parents. RESULTS: We have identified a homozygous missense mutation in COL4A1 (p.Gly1278Ser, NM_001845.5:c.3832G>T) in 2 siblings affected by small vessel brain disease with periventricular leukoencephalopathy and ocular defects. Presenting symptoms included mild weakness, hemiparetic gait, pyramidal findings, and seizures, whereas their intellectual and behavioral functions were normal. Both parents and 5 of the siblings (3 boys and 2 girls) were heterozygous for the variant. They did not show any clinical or laboratory signs of small vessel disease. CONCLUSIONS: COL4A1 has previously been associated with dominant small vessel disease of the brain and other organs, manifesting with high penetrance in heterozygous mutation carriers. Our findings provide evidence that COL4A1-related encephalopathy can be inherited in an autosomal recessive manner, which is important for counseling, prognosis, and treatment. Genotype-phenotype correlations remain to be established

Post-discharge heart failure monitoring program in Turkey: Hit-PoinT

Objective: The aim of this study was to assess the efficacy and feasibility of an enhanced heart failure (HF) education with a 6-month telephone follow- up program in post-discharge ambulatory HF patients. Methods: The Hit-Point trial was a multicenter, randomized, controlled trial of enhanced HF education with a 6-month telephone follow-up program (EHFP) vs routine care (RC) in patients with HF and reduced ejection fraction. A total of 248 patients from 10 centers in various geographical areas were randomized: 125 to EHFP and 123 to RC. Education included information on adherence to treatment, symptom recognition, diet and fluid intake, weight monitoring, activity and exercise training. Patients were contacted by telephone after 1, 3, and 6 months. The primary study endpoint was cardiovascular death. Results: Although all-cause mortality didn't differ between the EHFP and RC groups (p=NS), the percentage of cardiovascular deaths in the EHFP group was significantly lower than in the RC group at the 6-month follow up (5.6% vs. 8.9%, p=0.04). The median number of emergency room visits was one and the median number of all cause hospitalizations and heart failure hospitalizations were zero. Twenty-tree percent of the EHFP group and 35% of the RC group had more than a median number of emergency room visits (p=0.05). There was no significant difference regarding the median number of all-cause or heart failure hospitalizations. At baseline, 60% of patients in EHFP and 61% in RC were in NYHA Class III or IV, while at the 6-month follow up only 12% in EHFP and 32% in RC were in NYHA Class III or IV (p=0.001). Conclusion: These results demonstrate the potential clinical benefits of an enhanced HF education and follow up program led by a cardiologist in reducing cardiovascular deaths and number of emergency room visits with an improvement in functional capacity at 6 months in post-discharge ambulatory HF patients.Türk Kardiyoloji Derneği Kalp Yetmezliği Çalışma Grub

Neuromuscular disease genetics in under-represented populations: increasing data diversity

\ua9 The Author(s) 2023. Published by Oxford University Press on behalf of the Guarantors of Brain. Neuromuscular diseases (NMDs) affect ∼15 million people globally. In high income settings DNA-based diagnosis has transformed care pathways and led to gene-specific therapies. However, most affected families are in low-to-middle income countries (LMICs) with limited access to DNA-based diagnosis. Most (86%) published genetic data is derived from European ancestry. This marked genetic data inequality hampers understanding of genetic diversity and hinders accurate genetic diagnosis in all income settings. We developed a cloud-based transcontinental partnership to build diverse, deeply-phenotyped and genetically characterized cohorts to improve genetic architecture knowledge, and potentially advance diagnosis and clinical management. We connected 18 centres in Brazil, India, South Africa, Turkey, Zambia, Netherlands and the UK. We co-developed a cloud-based data solution and trained 17 international neurology fellows in clinical genomic data interpretation. Single gene and whole exome data were analysed via a bespoke bioinformatics pipeline and reviewed alongside clinical and phenotypic data in global webinars to inform genetic outcome decisions. We recruited 6001 participants in the first 43 months. Initial genetic analyses \u27solved\u27 or \u27possibly solved\u27 ∼56% probands overall. In-depth genetic data review of the four commonest clinical categories (limb girdle muscular dystrophy, inherited peripheral neuropathies, congenital myopathy/muscular dystrophies and Duchenne/Becker muscular dystrophy) delivered a ∼59% \u27solved\u27 and ∼13% \u27possibly solved\u27 outcome. Almost 29% of disease causing variants were novel, increasing diverse pathogenic variant knowledge. Unsolved participants represent a new discovery cohort. The dataset provides a large resource from under-represented populations for genetic and translational research. In conclusion, we established a remote transcontinental partnership to assess genetic architecture of NMDs across diverse populations. It supported DNA-based diagnosis, potentially enabling genetic counselling, care pathways and eligibility for gene-specific trials. Similar virtual partnerships could be adopted by other areas of global genomic neurological practice to reduce genetic data inequality and benefit patients globally

Neuromuscular disease genetics in under-represented populations: increasing data diversity

Neuromuscular diseases (NMDs) affect ∼15 million people globally. In high income settings DNA-based diagnosis has transformed care pathways and led to gene-specific therapies. However, most affected families are in low-to-middle income countries (LMICs) with limited access to DNA-based diagnosis. Most (86%) published genetic data is derived from European ancestry. This marked genetic data inequality hampers understanding of genetic diversity and hinders accurate genetic diagnosis in all income settings. We developed a cloud-based transcontinental partnership to build diverse, deeply-phenotyped and genetically characterized cohorts to improve genetic architecture knowledge, and potentially advance diagnosis and clinical management. We connected 18 centres in Brazil, India, South Africa, Turkey, Zambia, Netherlands and the UK. We co-developed a cloud-based data solution and trained 17 international neurology fellows in clinical genomic data interpretation. Single gene and whole exome data were analysed via a bespoke bioinformatics pipeline and reviewed alongside clinical and phenotypic data in global webinars to inform genetic outcome decisions. We recruited 6001 participants in the first 43 months. Initial genetic analyses ‘solved’ or ‘possibly solved’ ∼56% probands overall. In-depth genetic data review of the four commonest clinical categories (limb girdle muscular dystrophy, inherited peripheral neuropathies, congenital myopathy/muscular dystrophies and Duchenne/Becker muscular dystrophy) delivered a ∼59% ‘solved’ and ∼13% ‘possibly solved’ outcome. Almost 29% of disease causing variants were novel, increasing diverse pathogenic variant knowledge. Unsolved participants represent a new discovery cohort. The dataset provides a large resource from under-represented populations for genetic and translational research. In conclusion, we established a remote transcontinental partnership to assess genetic architecture of NMDs across diverse populations. It supported DNA-based diagnosis, potentially enabling genetic counselling, care pathways and eligibility for gene-specific trials. Similar virtual partnerships could be adopted by other areas of global genomic neurological practice to reduce genetic data inequality and benefit patients globally

Outcomes of high-risk breast lesions diagnosed using image-guided core needle biopsy: results from a multicenter retrospective study

PURPOSEThe clinical management of high-risk lesions using image-guided biopsy is challenging. This study aimed to evaluate the rates at which such lesions were upgraded to malignancy and identify possible predictive factors for upgrading high-risk lesions.METHODSThis retrospective multicenter analysis included 1.343 patients diagnosed with high-risk lesions using an image-guided core needle or vacuum-assisted biopsy (VAB). Only patients managed using an excisional biopsy or with at least one year of documented radiological follow-up were included. For each, the Breast Imaging Reporting and Data System (BI-RADS) category, number of samples, needle thickness, and lesion size were correlated with malignancy upgrade rates in different histologic subtypes. Pearson’s chi-squared test, the Fisher–Freeman–Halton test, and Fisher’s exact test were used for the statistical analyses.RESULTSThe overall upgrade rate was 20.6%, with the highest rates in the subtypes of intraductal papilloma (IP) with atypia (44.7%; 55/123), followed by atypical ductal hyperplasia (ADH) (38.4%; 144/375), lobular neoplasia (LN) (12.7%; 7/55), papilloma without atypia (9.4%; 58/611), flat epithelial atypia (FEA) (8.7%; 10/114), and radial scars (RSs) (4.6%; 3/65). There was a significant relationship between the upgrade rate and BI-RADS category, number of samples, and lesion size Lesion size was the most predictive factor for an upgrade in all subtypes.CONCLUSIONADH and atypical IP showed considerable upgrade rates to malignancy, requiring surgical excision. The LN, IP without atypia, pure FEA, and RS subtypes showed lower malignancy rates when the BI-RADS category was lower and in smaller lesions that had been adequately sampled using VAB. After being discussed in a multidisciplinary meeting, these cases could be managed with follow-up instead of excision

Utilization Rate of Primary Health Services in the Diagnosis, Treatment, and Follow-Up of Patients Diagnosed with Rheumatic Disease

<p><strong>Özet</strong></p><p>Bu çalışmada romatizmal hastalık tanısı almış bireylerin tanı, tedavi ve takip sürecinde birinci basamak sağlık hizmetlerinin etkinliğinin araştırılması amaçlanmıştır. Bu amaçla 350 hastaya araştırmacıların hazırlamış olduğu 26 soruluk ankette yer alan ve hastaların demografik bilgileri, romatolojik hastalıklarına tanı konma sürecinde ve sonrasında birinci basamağı tercih etme durumlarıyla ilgili sorular sorulmuştur. Katılımcıların yaş ortalaması 48.67±13.26 olup, %73.7'si (n=258) kadın idi. Hastalar ortalama 6.74±6.07 yıl önce romatizmal hastalık tanısı almışlardı. Hekime müracaatta ilk şikayet en sık %79.7 ile eklem ağrısıydı. Hastaların %22'si (n=77) ilk olarak dahiliye polikliniğine başvurmuştu. Aile hekimine ilk başvuru oranı %12.3'tü (n=43) ve bu hastaların %55.8'i (n=24) tanı için üst basamağa sevk edilmişti. Hastaların %69.1'i (n=242) üçüncü basamak sağlık kuruluşunda tanı almıştı. Analiz sonuçlarına göre hastaların %47.7'sinin tanılı oldukları romatizmal hastalıkları için aile hekiminden reçete yazdırdığı, ancak sadece %6'sının (n=21) romatizmal hastalık için birinci basamakta aile hekimine kontrollere gittiği görüldü. Çalışmamızda hastaların birinci basamaktan hizmet alım oranı romatizmal hastalık belirtileri ilk başladığında ve tanı aldıktan sonraki süreçte de sadece raporlu ilaç yazımıyla ilgili yüksektir. Takip amaçlı birinci basamağı tercih etme eğilimlerinin düşük olduğu saptanmıştır. Hastalığın tüm süreçlerine katkı sağlamak hastanelerin iş yükünü azaltacak ve maliyet etkin bir yaklaşıma katkı sağlayacaktır. Bunun için hastaların birinci basamağa yönelik olumsuz algılarını ortadan kaldıracak faktörler gözden geçirilerek hastaların birinci basamağı tercih etme oranları arttırılabilir.</p><p><strong>Abstract</strong></p><p>In this study, we aimed to investigate the utilization of primary health care in the diagnosis, treatment and follow-up of patients diagnosed with rheumatic disease. For this purpose, 350 patients with rheumatic disease were included in the survey and 26-question about the demographic information of the patients, utilization of primary health care during and afterwards the diagnosis process of the disease. The mean age of the participants was 48.67±13.26, and 73.7% (n=258) of them were female. The patients were diagnosed with rheumatic disease an average of 6.74±6.07 years ago. Joint pain was the most common complaint with a rate of 79.7%. 22% (n=77) of the patients were referred to first internal medicine outpatient department. First admission rate to a family physician was 12.3% (n=43) and 55.8% (n=24) of these patients were referred to higher care for diagnosis. 69.1% (n=242) of the patients were diagnosed in a tertiary healthcare institution. According to the analysis results, 47.7% of the patients had a prescription from their family physician for their rheumatic diseases, but only 6% (n=21) went to their primary care physician for check-ups for their rheumatic diseases. In our study, the rate of use of primary care services was high when patients' rheumatic disease symptoms first begin and were only prescribed prescription drugs after diagnosis. The tendency to prefer primary care for follow-up was low. Contributing to all processes of the rheumatic disease will reduce the workload of hospitals and contribute to a cost-effective approach. For this, the factors that will eliminate the negative perceptions of patients towards primary care can be reviewed and the rate of patients' preference for primary care can be increased.</p><p><strong>Romatizmal Hastalık Tanısı Almış Bireylerin Tanı, Tedavi ve Takip Sürecinde Birinci Basamak Sağlık Hizmetlerini Kullanımı</strong></p&gt