Prevalence of Glu323Lys Mutation of the TIGR/MYOC Gene and Risk Factors amongst Primary Open-angle Glaucoma Patients in Ouagadougou, Burkina Faso.

Aim: Glaucoma is a group of degenerative diseases of the optic nerve whose predisposing factors may be genetic. The objective of this study was to estimate the frequency of the Glu323Lys mutation as a genetic risk factor for glaucoma. Materials and methods: A cross-sectional study over 6 months from October 2020 to March 2021 in Ouagadougou, Burkina Faso. A total of 89 samples of patients with primary open-angle glaucoma (POAG) were collected. The frequency of the Glu323Lys mutation of the myocilin, trabecular meshwork inducible glucocorticoid response (TIGR/MYOC) gene by polymerase chain reaction (PCR)-restriction fragment length polymorphism. Results: In glaucoma patients, only homozygous nonmutated guanine-guanine (GG) and heterozygous mutated adenine-guanine (AG) genotypes were found in 96.63 and 3.37% of cases, respectively. Around 69.66% of patients had a family history of glaucoma, 28.09% had a history of hypertension, and 7.86% had a history of diabetes. Conclusion: The frequency of the Glu323Lys mutation of the TIGR/MYOC gene was 3.37% in the glaucoma population in Ouagadougou. A case-control study is necessary to know the contribution of the Glu323Lys mutation as a genetic risk factor for glaucoma in our study population. Clinical significance: This study constituted the beginning of genetic investigations of glaucoma in our context and showed a low Glu323Lys mutation. How to cite this article: Traoré L, Sanou J, Bakyono BS, et al. Prevalence of Glu323Lys Mutation of the TIGR/MYOC Gene and Risk Factors amongst Primary Open-angle Glaucoma Patients in Ouagadougou, Burkina Faso. J Curr Glaucoma Pract 2023;17(2):79-84.

[New treatment approaches for and ongoing trials in metastatic hormone-sensitive prostate cancer]. / Neue Therapieansätze und Studienübersicht beim metastasierten hormonsensitiven Prostatakarzinom.

BACKGROUND: For many years, therapy for metastatic hormone-sensitive prostate cancer (mHSPC) was dominated by monotherapy using androgen deprivation therapy (ADT). With the demonstration of survival benefit with intensified systemic therapy from the CHAARTED and STAMPEDE trials, this has fundamentally changed. We analyzed the phase III trials that led to the change in therapy in mHSPC. In addition, we summarized ongoing trials in mHSPC. OBJECTIVES: The ongoing studies and current data on systemic therapy in mHSPC were analyzed. RESULTS: Monotherapy with ADT is no longer considered the standard therapy for mHSPC. Combination therapy with ADT and novel androgen receptor targeting agents (ARTAs: abiraterone, apalutamide, enzalutamide) is now the established standard option. The added value of further intensification of therapy was demonstrated in the first trials of triple therapy with ADT + docetaxel + darolutamide or abiraterone in mHSPC. Current studies are also investigating new forms of therapy. Lutetium177-PSMA radioligand therapy is an established standard in metastatic castration-resistant prostate cancer (mCRPC) and is currently being evaluated in combination with ADT + ARTA in mHSPC. The use of PARP inhibitors (PARPi) have been established in mCRPC. Current studies are showing early evidence of benefit from novel combination therapies of PARPi + ARTA, which represent a further expansion of the therapeutic landscape. Experimental therapies are testing another combination, such as an AKT inhibitor with ARTA in patients with PTEN (phosphatase and tensin homolog) loss. Based on the proof of principle in mCRPC, this combination is now being evaluated in earlier stage mHSPC. Other experimental therapies in clinical testing include inhibitors of cyclin dependent kinases (CDK). CONCLUSIONS: Combination therapies are the current standard of care for mHSPC, with the combination of ADT + ARTA dominating. Preliminary results underline the importance of further intensification of therapy by means of triple therapy. However, novel combinations with radioligand therapy or PARP inhibitors are also promising in the treatment of mHSPC. Preliminary results show the principle efficacy of AKT inhibitors in patients with PTEN loss, which similar to therapy with CDK4/6 inhibitors still have to prove their clinical relevance in randomized trials.

Maize resistance to witchweed through changes in strigolactone biosynthesis.

Maize (Zea mays) is a major staple crop in Africa, where its yield and the livelihood of millions are compromised by the parasitic witchweed Striga. Germination of Striga is induced by strigolactones exuded from maize roots into the rhizosphere. In a maize germplasm collection, we identified two strigolactones, zealactol and zealactonoic acid, which stimulate less Striga germination than the major maize strigolactone, zealactone. We then showed that a single cytochrome P450, ZmCYP706C37, catalyzes a series of oxidative steps in the maize-strigolactone biosynthetic pathway. Reduction in activity of this enzyme and two others involved in the pathway, ZmMAX1b and ZmCLAMT1, can change strigolactone composition and reduce Striga germination and infection. These results offer prospects for breeding Striga-resistant maize.

Seroprevalence, Genotyping, and Monitoring of Hepatitis C Viral Loads in Patients on Antivirals in Burkina Faso.

INTRODUCTION: Hepatitis C virus (HCV) infection remains a major public health problem worldwide. In Burkina Faso, nearly 720,000 people are living with HCV, and each year about 900 people die from complications of cirrhosis or hepatocellular carcinoma. This study was planned to determine the HCV seroprevalence, characterize circulating genotypes, and monitor HCV viral loads in patients under treatment with antivirals. METHODS: A total of 4,124 individuals and 167 patients in the pre-therapy program were recruited. The "SD Bioline HCV" kit was used for rapid screening of anti-HCV antibodies. Viral load and genotyping were performed in 167 HCV patients on antivirals using the "Iontek HCV Quant" and "Iontek genotyping" kits. RESULTS: Prevalence of HCV was 1.65% (68/4,124), and the median viral load of participants was 5.37 log10/mL (1.32-7.67 log10/mL). Genotype 2 was predominant with a frequency of 86.23% (144/167) and appeared to be more active with higher viral load compared to 13.77% (23/167) for genotype 1 (p < 0.001). After 24 weeks of pan-genotypic direct-acting antivirals, such as sofosbuvir/daclatasvir and sofosbuvir/velpatasvir, the viral loads of all patients became undetectable. CONCLUSION: The responses to antivirals by the circulating genotypes indicate that the results are very satisfactory. Therefore, the prevalence of HCV in the population can be reduced through identification of cases and treatment.

More evidence on TRIO missense mutations in the spectrin repeat domain causing severe developmental delay and recognizable facial dysmorphism with macrocephaly.

TRIO is a Dbl family guanine nucleotide exchange factor (GEF) and an important regulator of neuronal development. Most truncating and missense variants affecting the Dbl homology domain of TRIO are associated with a neurodevelopmental disorder with microcephaly (MIM617061). Recently, de novo missense variants affecting the spectrin repeat region of TRIO were associated with a novel phenotype comprising severe developmental delay and macrocephaly (MIM618825). Here, we provide more evidence on this new TRIO-associated phenotype by reporting two severely affected probands with de novo missense variants in TRIO affecting the spectrin repeat region upstream of the typically affected GEF1 domain of the protein.

Single-source dual-energy computed tomography for the detection of bone marrow lesions: impact of iterative reconstruction and algorithms.

PURPOSE: To compare the diagnostic performance of different reconstruction algorithms of single-source dual-energy computed tomography (DECT) for the detection of bone marrow lesions (BML) in patients with vertebral compression fracture using MRI as the standard of reference. MATERIAL AND METHODS: Seventeen patients with an age over 50 who underwent single-source DECT of the spine were included. The raw data (RD) were reconstructed using filtered back-projection (FBP) and iterative reconstruction (IR) with three iteration levels (IR1-IR3). Bone marrow images were generated using a three-material decomposition (3MD) and a two-material decomposition (2MD) algorithm and an RD-based approach. Three blinded readers scored the images for image quality and the presence of bone marrow lesions (BML). Only vertebrae with height loss were included. The signal-to-noise ratio (SNR) and contrast-to-noise ratio (CNR) were calculated. The different reconstructions were compared using Dunn's multiple comparison test. RESULTS: Thirty-nine vertebrae were included. IR(1-3) showed superior sensitivity (87.5%) compared to FBP (75%) using 3MD but was comparable to RD (83.3%). All 2MD images were inferior (sensitivity < 38%). The image quality score was significantly higher for 3MD-IR(1-3) compared to 3MD-FBP (p < 0.0001) and all 2MD data sets (p < 0.03). This pattern was also supported by the SNR and CNR measurements. RD showed no significant improvement compared to IR. CONCLUSION: The image quality of bone marrow images acquired with DECT can be improved by using IR compared with FBP. RD-based reconstruction does not offer significant improvement over image data-based reconstruction. 2MD algorithms are not suitable for BML detection.

[Rheumatoid arthritis-mimics : When appearances are deceptive]. / Rheumatoide Arthritis ­ Mimics : Wenn der Schein trügt.

Rheumatology represents a discipline full of differential diagnoses. Even for classical diseases, such as rheumatoid arthritis as the most frequent chronic inflammatory joint disease and described so clearly in many textbooks, it is not uncommon that it can be a diagnostic challenge in daily practice. This applies to arthritic joint involvement and also to frequently associated extra-articular manifestations. The patient history and results of the clinical examination are essential; however, laboratory and imaging findings often make a significant contribution to confirming the diagnosis, especially in early phases of the disease. This article, which makes no claims to completeness, focuses on diseases that in the opinion of the authors can imitate rheumatoid arthritis due to similar joint and other organ manifestations. These include metabolic, inflammatory infective and non-infective as well as tumorous diseases. A misinterpretation as rheumatoid arthritis as a rule leads to long-term and severe consequences for affected patients. Thus, the diagnosis of rheumatoid arthritis should be questioned and re-evaluated in cases of unusual accompanying symptoms, atypical course of disease and a lack of response to standard treatment approaches.

Hepatic arterial therapy with oxaliplatin and systemic capecitabine for patients with liver metastases from breast cancer.

OBJECTIVES: Hepatic arterial treatment (HAT) for liver metastases in patients with metastatic breast cancer (MBC) has only been investigated in few studies. MATERIALS AND METHODS: Two phase II trials were initiated simultaneously to evaluate capecitabine in combination with oxaliplatin in patients with MBC and liver metastases. These two trials are reported together. Continuous capecitabine (1300 mg/m2) was combined with oxaliplatin (85 mg/m2) alternating between systemic treatment and HAT followed by degradable starch microspheres with EmboCept® S every second week. Four patients participated in a pharmacokinetic analysis of oxaliplatin. Each patient had samples taken when receiving oxaliplatin systemically and as HAT with and without EmboCept® S. RESULTS: Totally, 52 patients received HAT: 14 with liver metastases only and 38 patients with additional limited metastatic disease. The patients had previously received a median of 2 (range 0-6) chemotherapeutic regimens for MBC. The response rate was 42.3% (95% confidence interval (CI) 28.7-56.8%) with 7.7% complete and 34.6% partial responses. Median progression free survival was 10.8 months (95% CI 6.9-14.7 months) and median overall survival 27.6 months (95% CI 20.4-34.8 months). The toxicity was moderate with hand-foot syndrome (15.4%), neuropathy (9.6%), fatigue (9.6%), and abdominal pain (9.6%) being the most common grade 3 adverse events. There was no clear difference between systemic blood concentrations of oxaliplatin when given systemic or as HAT. CONCLUSION: HAT oxaliplatin in combination with capecitabine is safe and efficient in patients with MBC. The results are promising with high response rates and a long median progression free and overall survival.

Development of the BELANA questionnaire for the analysis of economic burdens of food allergy and intolerance.

INTRODUCTION: Patients affected by food allergies and intolerance need to apply dedicated avoidance strategies and also prevent the consequences of unbalanced diets. In most countries, the health economic costs for these patients are unknown. METHODS: To measure temporal and financial burdens of the patients in multinational settings, the BELANA questionnaire (Burdens and Expenses of Living as an Adult with Nutrition based Allergy or Intolerance) has been developed. For the complementary measurement of Health Related Quality of Life (HR-QoL), a combined appliance of the disease-specific FAQLQ-AF (Food Allergy Quality of Life Questionnaire - Adult Form) and the generic SF-12v1 (Short Form-12 Health Survey) has been chosen. RESULTS: BELANA collects six economic items while avoiding questions, which are already included in the HR-QoL questionnaires or could lead to denial tendencies. In a web-based pilot survey with 51 patients, the practicability of using BELANA together with the complementary quality of life instruments was investigated. The electronic data collection offers real time plausibility checks and limits the workload for completion and data evaluation. DISCUSSION: The response rates at BELANA health-economic items (76 - 100%) and the high amount of completed questionnaires (50 of 51) confirm the patients acceptance of the chosen methodology. Within the web-based survey, the combination of BELANA, FAQLQ-AF and SF-12v1 was completed in an average of 22 minutes. An age-related selection bias was not been confirmed in this pilot application. The median age in the pilot trial was 37.9 years (minimum age to participate was 18 years, range from 19 to 72 years, Standard Deviation (SD) = 12.4 years). Most of the participants were female (44 of 50). CONCLUSION: It is assumed that the BELANA questionnaire should be a useful tool for the evaluation of health-economic burden for patients with food allergy and intolerance.

[Magnetic resonance imaging findings after shoulder surgery: What the radiologist needs to know]. / Besonderheiten der Magnetresonanztomographie nach operativer Schulterintervention.

Even primary diagnostic evaluation of the shoulder is a challenge for radiologists. Many imaging findings that definitely indicate abnormal findings in the untreated shoulder should be evaluated carefully in postoperative patients. Artifacts caused by implants or metal abrasion pose considerable problems in postoperative magnetic resonance imaging (MRI). Classic approaches to minimizing artifacts caused by foreign bodies include using turbo spin echo sequences, increasing bandwidth, and reducing voxel size. In recent years, several vendors have developed dedicated pulse sequences for reducing metal artifacts. Different postoperative imaging findings will be encountered, depending on the kind of surgery done. This review article describes typical postoperative MRI findings, focusing on subacromial decompression, reconstruction of the rotator cuff, labrum procedures, and biceps tenodesis.

Dual-energy CT virtual non-calcium technique for detection of bone marrow edema in patients with vertebral fractures: A prospective feasibility study on a single- source volume CT scanner.

OBJECTIVES: Dual-energy computed tomography (DECT) is a recent development for detecting bone marrow edema (BME) in patients with vertebral compression fractures. The aim of this pilot study was to determine the reliability of single-source DECT in detecting vertebral BME using magnetic resonance imaging (MRI) as standard of reference. MATERIALS AND METHODS: Nine patients with radiographic thoracic or lumbar vertebral compression fractures underwent both, DECT on a 320-row single-source scanner and 1.5T MRI. Virtual non-calcium (VNC) images were reconstructed from the DECT volume datasets. Three blinded readers independently scored images for the presence of BME. Only vertebrae with loss of height in radiography (target vertebrae) were included in the analysis. A vertebra was counted as positive if two readers agreed on the presence of BME. Cohen's kappa was calculated for interrater comparison. Intervertebral ratios of target and the reference vertebra were compared for CT attenuation and MR signal intensity in a reference vertebra using Spearman correlation. Signal-to-noise ratio (SNR) and contrast-to-noise ratio (CNR) were calculated. RESULTS: Fourteen target vertebrae with a radiographic height loss were identified; eight of them showed BME on MRI, while DECT identified BME in 7 instances. There were no false positive virtual non-calcium images, resulting in a sensitivity of 0.88 (0.75-1.0 among all readers) and specificity of 1.0 (0.81-1.0). Interrater agreement was inferior for DECT (κ=0.63-0.89) compared to MRI (κ=0.9-1.0). Intervertebral ratio in VNC images strongly correlated with short-tau inversion recovery (r=0.87) and inversely with T1 (-0.89). SNR (0.2+/- 0.2 in VNC and 16.7+/- 7.3 in STIR) and CNR (0.2+/- 0.3 and 7.1+/- 6.3) values were inferior in VNC. CONCLUSIONS: Detecting BME with single-source DECT is feasible and allows detection of vertebral compression fractures with reasonably high sensitivity and specificity. However, image quality of VNC reconstructions has to be improved to achieve better interrater agreement. Nonetheless, DECT might accelerate the diagnostic work-flow in patients with vertebral compression fractures in the future and reduce the number of additional MRI examinations.

Acute vertebral fracture after spinal fusion: a case report illustrating the added value of single-source dual-energy computed tomography to magnetic resonance imaging in a patient with spinal Instrumentation.

Magnetic resonance imaging (MRI) is degraded by metal-implant-induced artifacts when used for the diagnostic assessment of vertebral compression fractures in patients with instrumented spinal fusion. Dual-energy computed tomography (DECT) offers a promising supplementary imaging tool in these patients. This case report describes an 85-year-old woman who presented with a suspected acute vertebral fracture after long posterior lumbar interbody fusion. This is the first report of a vertebral fracture that showed bone marrow edema on DECT; however, edema was missed by an MRI STIR sequence owing to metal artifacts. Bone marrow assessment using DECT is less susceptible to metal artifacts than MRI, resulting in improved visualization of vertebral edema in the vicinity of fused vertebral bodies.

Defining active sacroiliitis on MRI for classification of axial spondyloarthritis: update by the ASAS MRI working group.

OBJECTIVES: To review and update the existing definition of a positive MRI for classification of axial spondyloarthritis (SpA). METHODS: The Assessment in SpondyloArthritis International Society (ASAS) MRI working group conducted a consensus exercise to review the definition of a positive MRI for inclusion in the ASAS classification criteria of axial SpA. Existing definitions and new data relevant to the MRI diagnosis and classification of sacroiliitis and spondylitis in axial SpA, published since the ASAS definition first appeared in print in 2009, were reviewed and discussed. The precise wording of the existing definition was examined in detail and the data and a draft proposal were presented to and voted on by the ASAS membership. RESULTS: The clear presence of bone marrow oedema on MRI in subchondral bone is still considered to be the defining observation that determines the presence of active sacroiliitis. Structural damage lesions seen on MRI may contribute to a decision by the observer that inflammatory lesions are genuinely due to SpA but are not required to meet the definition. The existing definition was clarified adding guidelines and images to assist in the application of the definition. CONCLUSION: The definition of a positive MRI for classification of axial SpA should continue to primarily depend on the imaging features of 'active sacroiliitis' until more data are available regarding MRI features of structural damage in the sacroiliac joint and MRI features in the spine and their utility when used for classification purposes.

Influence of nitrogen sources on the enzymatic activity and grown by Lentinula edodes in biomass Eucalyptus benthamii.

Lignocellulose is the most abundant environmental component and a renewable organic resource in soil. There are some filamentous fungi which developed the ability to break down and use cellulose, hemicellulose and lignin as an energy source. The objective of this research was to analyze the effect of three nitrogen resources (ammonium sulfate, saltpetre, soybean) in the holocellulolitic activity of Lentinula edodes EF 50 using as substrate sawdust E. benthamii. An experimental design mixture was applied with repetition in the central point consisting of seven treatments (T) of equal concentrations of nitrogen in ammonium sulfate, potassium nitrate and soybean. The enzymatic activity of avicelase, carboxymetilcellulase, ß-glucosidase, xylanases and manganese peroxidase was determined. The humidity, pH, water activity (aw) and qualitative analysis of mycelial growth in 8 times of cultivation were evaluated. The results showed negative effect on enzyme production in treatments with maximum concentration of ammonium sulfate and potassium nitrate. The treatments with cooked soybean flour expressed higher enzymatic activities in times of 3, 6 and 9 days of culture, except in the activity of manganese peroxidase. The highest production was observed in the treatment with ammonium sulfate, and soybean (83.86 UI.L-1) at 20 days of cultivation.

Influence of nitrogen sources on the enzymatic activity and grown by Lentinula edodes in biomass Eucalyptus benthamii / Influência das fontes de nitrogênio na atividade enzimática e crescimento de Lentinula edodes na biomassa Eucalyptus benthamii

Abstract Lignocellulose is the most abundant environmental component and a renewable organic resource in soil. There are some filamentous fungi which developed the ability to break down and use cellulose, hemicellulose and lignin as an energy source. The objective of this research was to analyze the effect of three nitrogen resources (ammonium sulfate, saltpetre, soybean) in the holocellulolitic activity of Lentinula edodes EF 50 using as substrate sawdust E. benthamii. An experimental design mixture was applied with repetition in the central point consisting of seven treatments (T) of equal concentrations of nitrogen in ammonium sulfate, potassium nitrate and soybean. The enzymatic activity of avicelase, carboxymetilcellulase, β-glucosidase, xylanases and manganese peroxidase was determined. The humidity, pH, water activity (aw) and qualitative analysis of mycelial growth in 8 times of cultivation were evaluated. The results showed negative effect on enzyme production in treatments with maximum concentration of ammonium sulfate and potassium nitrate. The treatments with cooked soybean flour expressed higher enzymatic activities in times of 3, 6 and 9 days of culture, except in the activity of manganese peroxidase. The highest production was observed in the treatment with ammonium sulfate, and soybean (83.86 UI.L–1) at 20 days of cultivation.

Resumo Lignocelulose é o componente mais abundante do meio ambiente e recurso orgânico renovável no solo. Alguns fungos filamentosos têm desenvolvido a habilidade de degradar e utilizar celulose, hemicelulose e lignina como fonte de energia. O objetivo deste trabalho foi analisar o efeito de três fontes de nitrogênio (sulfato de amônio, nitrato de potássio e farelo de soja) na atividade enzimática de Lentinula edodes EF 50 utilizando como substrato serragem de E. benthamii. Foi aplicado um planejamento experimental de mistura com três repetições no ponto central constituído de sete tratamentos (T) de iguais concentrações em nitrogênio de sulfato de amônia, nitrato de potássio e farinha de soja cozida. Foram determinadas a atividade enzimática da avicelase, carboximetilcelulase, β-glicosidase, xilanases e manganês peroxidase. Foram avaliados o teor de umidade, pH, atividade de água (aw) e análise qualitativa do crescimento micelial em 8 tempos de cultivo. Os resultados mostraram efeito negativo na produção das enzimas nos tratamentos com máxima concentração de sulfato de amônia e nitrato de potássio. Os tratamentos com farinha de soja cozida expressaram maiores atividades enzimáticas, nos tempos de 3, 6 e 9 dias de cultivo exceto na atividade do manganês peroxidase. A maior produção foi observada no tratamento com sulfato de amônia e farinha de soja cozida (83.86 UI.L–1) em 20 dias de cultivo.

[Restoration of ulnar collateral ligament stability of the metacarpophalangeal joint of the thumb]. / Ulnare Kollateralbandplastik des Daumengrundgelenks bei chronischer Instabilität.

OBJECTIVE: Restoration of ulnar collateral ligament stability of the metacarpophalangeal (MP) joint of the thumb with elimination of palmar subluxation while retaining mobility for chronic instability without osteoarthritis. INDICATIONS: Acquired or congenital chronic instability of the MP joint of the thumb with compelling reasons for joint preservation and against arthrodesis, e.g., an arthrodesis or arthritis of adjacent joints. CONTRAINDICATIONS: Arthritis of the thumb MP joint. Contractures of the MP joint. Low natural range of motion of the joint (compared to the contralateral hand). Additional palmar instability with significant hyperextensibility. Infections. Lesions to the median and/or ulnar nerve with impaired active mobility. SURGICAL TECHNIQUE: Anatomical reconstruction of the ulnar collateral ligament and the accessory collateral ligament using a tendon graft (palmaris longus tendon). Ulnar approach, transosseous course of the tendon graft and elimination of subluxation. POSTOPERATIVE MANAGEMENT: Splint for 5 weeks and hand therapy. RESULTS: Of 12 patients undergoing this type of ligament reconstruction, all achieved good stability and pain-free range of motion, which was 60-95% of the contralateral hand. This surgical procedure has few complications and is considered reliable.