The Impact of Menstrual Disorders on Sleep Quality in Adolescents: An Observational Study.

STUDY OBJECTIVE: Premenstrual syndrome (PMS), dysmenorrhea, and abnormal uterine bleeding are frequent gynecological problems in adolescent girls. Studies show that sleep disorders and menstrual cycle irregularities are common conditions and indicate that they may occur together. Studies on the relationship between sleep quality and menstruation are mostly available for late adolescents (17 years and older) and young adult age groups. Our study aims to evaluate this relationship in adolescents aged 12-18. METHODS: A survey study was structured and consisted of 4 sections. The first section includes anthropometric measurements and medical history of the participants; the second section includes 'menstruation and menstruation symptoms history'; the third section includes 'The Sleep Quality Scale and Sleep Variable Questionnaire' (SQS-SVQ); and the fourth section includes the 'Premenstrual Syndrome Assessment Scale' (PMSAS). Our survey was applied to those who visited the adolescent medicine outpatient clinic. RESULTS: The Sleep Quality Scale (SQS) score was significantly lower in those with high PMSAS scores (p<0.001). The participants who had dysmenorrhea and experienced other symptoms during menstruation had significantly lower SQS scores and sleep efficiency (p<0.001). There was no significant difference between heavy menstrual bleeding (HMB), defined as lasting more than 7 days, requiring more than 5-6 pads/tampons per day, and sleep efficiency/quality (p>0.05). CONCLUSION: According to our study, dysmenorrhea and the presence of PMS may negatively affect the sleep quality of adolescents. Health professionals dealing with young people should take into account the effects of menstrual problems on sleep quality and offer appropriate support/treatment options.

Phenotype clustering of hospitalized high-risk patients with COVID-19 - a machine learning approach within the multicentre, multinational PCHF-COVICAV registry.

IMTRODUCTION: The high-risk population of patients with cardiovascular (CV) disease or risk factors (RF) suffering from COVID-19 is heterogeneous. Several predictors for impaired prognosis have been identified. However, with machine learning (ML) approaches, certain phenotypes may be confined to classify the affected population and to predict outcome. This study aimed to phenotype patients using unsupervised ML technique within the International Postgraduate Course Heart Failure Registry for patients hospitalized with COVID-19 and Cardiovascular disease and/or RF (PCHF-COVICAV). MATERIAL AND METHODS: Patients from the eight centres with follow-up data available from the PCHF-COVICAV registry were included in this ML analysis (K-medoids algorithm). RESULTS: Out of 617 patients included into the prospective part of the registry, 458 [median age: 76 (IQR:65-84) years, 55% male] were analyzed and 46 baseline variables, including demographics, clinical status, comorbidities and biochemical characteristics were incorporated into the ML. Three clusters were extracted by this ML method. Cluster 1 (n = 181) represents mainly women with the least number of overall comorbidities and cardiovascular RF. Cluster 2 (n = 227) is characterized mainly by men with non-CV conditions and less severe symptoms of infection. Cluster 3 (n=50) mainly represents men with the highest prevalence of cardiac comorbidities and RF, more extensive inflammation and organ dysfunction with the highest 6-month all-cause mortality risk. CONCLUSIONS: The ML process has identified three important clinical clusters from hospitalized COVID-19 CV and/or RF patients. The cluster of males with severe CV disease, particularly HF, and multiple RF presenting with increased inflammation had a particularly poor outcome.

Impact of intra-abdominal drains in emergency gastrointestinal surgery: a scoping review.

INTRODUCTION: Intra-abdominal drains are often placed in emergency gastrointestinal surgery procedures with the aim to prevent the formation of intra-abdominal collections (IAC) and aid in their early detection. However, the evidence for this is debated. This scoping review aims to evaluate the current evidence for their use in this setting. METHODS: A literature search was performed using MEDLINE via PubMed, Scopus, Web of Science, Cochrane Library, and ClinicalTrials.gov. Primary studies published between January 2000 and September 2023 that assessed intra-abdominal drain placement and post-operative IAC formation in emergency gastrointestinal surgery were included. RESULTS: A total of 26 articles were identified. There was no strong evidence to suggest that prophylactic intra-abdominal drain placement influences the formation of IAC in emergency gastrointestinal procedures. There was a suggestion that drain placement may increase the rate of surgical site infection and length of hospital stay. However, current studies on the topic are of poor quality and high risk of bias. CONCLUSION: The undifferentiated use of drains in emergency gastrointestinal surgery should not be encouraged. Drain placement should be specific to the clinical context. Higher quality research is warranted to better understand the influence drain placement has on post-operative outcomes.

Biosensing of arsenic by whole-cell bacterial bioreporter immobilized on polycaprolactone (PCL) electrospun fiber.

In recent years, heavy metals derived from several anthropogenic sources have both direct and indirect detrimental effects on the health of the environment and living organisms. Whole-cell bioreporters (WCBs) that can be used to monitor the levels of heavy metals in drinking and natural spring waters are important. In this study, whole-cell arsenic bacterial bioreporters were immobilized using polycaprolactone (PCL) electrospun fibers as the support material. The aim is to determine the properties of this immobilized bioreporter system by evaluating its performance in arsenic detection. Within the scope of the study, different growth media and fiber immobilization times were tested to determine the parameters affecting the fluorescent signals emitted by the immobilized bioreporter system in the presence of two dominant forms of arsenic, namely arsenite (As(III)) and arsenate (As(V)). In addition, the sensitivity, selectivity, response time, and shelf-life of the developed bioreporter system were evaluated. As far as the literature is concerned, this is the first study to investigate the potential of using PCL-electrospun fiber-immobilized fluorescent bacterial bioreporter for arsenic detection. This study will open new avenues in environmental arsenic monitoring.

Role of contrast agent in evaluation of periprostatic invasion in prostate cancer.

Objectives: Our study aims to demonstrate the detection of invasion by biparametric prostate MRI (bpMRI). Materials and methods: The cases whose histopathological diagnosis was prostate cancer (PCa) and whose mpMRI report was reported as PIRADS 4 and 5 were evaluated retrospectively by two radiologists with different prostate imaging experiences. The images were grouped into two data sets. Dataset-1 was bpMRI, and dataset-2 was mpMRI. Two radiologists first evaluated dataset-1 independently of each other, and 1 month later, dataset-2. They recorded whether there was an invasion and where it was seen in the patients. Then, the results were compared. Results: A total of 75 patients were included in the study. Periprostatic invasion was detected in 33 of the patients. Both the 1st reader and the 2nd reader image detected all the cases with invasion (100%) separately between dataset-1 and set-2. Compatibility for image dataset-1 and dataset-2 between both readers was observed to be excellent. Conclusions: There is no need to use contrast agent to evaluate periprostatic invasion and to have an idea about local staging in PCa patients.

Objetivo: Nuestro estudio tiene como objetivo demostrar la detección de la invasión por resonancia magnética biparamétrica de próstata (BPMRI). Material y métodos: Los casos cuyo diagnóstico histopatológico fue PCA y cuyo informe MPMRI se informó como Pirads 4 y 5 fueron evaluados retrospectivamente por dos radiólogos con diferentes experiencias de imágenes de próstata. Las imágenes se agruparon en dos conjuntos de datos. DataSet-1 fue BPMRI, DataSet-2 fue MPMRI. Dos radiólogos evaluaron por primera vez el conjunto de datos 1 independientemente el uno del otro, y 1 mes después, el conjunto de datos-2. Registraron si había una invasión y dónde se vio en los pacientes. Luego se compararon los resultados. Resultados: Se incluyeron un total de 75 pacientes en el estudio. La invasión periprostática se detectó en 33 de los pacientes. Tanto el primer lector como la imagen del segundo lector detectaron todos los casos con invasión (100%) por separado entre el conjunto de datos-1 y el set-2. Se observó que la compatibilidad para el conjunto de datos de imágenes-1 y el conjunto de datos entre ambos lectores era excelente. Conclusiones: No es necesario usar el agente de contraste para evaluar la invasión periprostática y tener una idea sobre la puesta en escena local en pacientes con PCA.

Radiofrequency ablation of the great saphenous vein; does the choice of monopolar or bipolar catheters affect outcomes?

OBJECTIVES: Radiofrequency-based procedure is one of the leading methods of endovenous thermal ablation. The most fundamental difference with regards to currently available radiofrequency ablation systems is the way of electric current flow given to the vein wall; bipolar segmental and monopolar ablation. This study aimed to compare the monopolar ablation method with conventional bipolar segmental endovenous radiofrequency ablation method for the management of incompetent saphenous veins. METHODS: Between November 2019 and November 2021, 121 patients with incompetent varicose veins who were treated either with the F-Care/monopolar (N = 49) or ClosureFast/bipolar (N = 72) were included in the study. A single extremity of each patient with isolated great saphenous vein insufficiency was enrolled. The differences between the two groups in demographic parameters, disease severity, treated veins, peri- and postoperative complications, and treatment efficacy indicators were retrospectively evaluated. RESULTS: There was no statistically significant difference between the groups regarding demographic parameters, disease severity, and treated veins in preoperative period (p > 0,05). The average procedural time was 21.4 ± 4 minutes in the monopolar group, while it was 17.1 ± 3 minutes in the bipolar group. In both groups, the venous clinical severity scores declined significantly compared with the preoperative period, however; there was no difference between groups (p > 0,05). The occlusion rate of the saphenofemoral junction and proximal saphenous vein after 1 year was 94.1% in the bipolar group and 91.8% in the monopolar group (p = 0.4) while there was a significant difference in the occlusion rate of the shaft and distal part of the saphenous vein (93.2% in the bipolar group and 80.4% in the monopolar group, p = 0.04). Postoperative complications (bruising and skin pigmentation) were slightly higher in the bipolar group (p = 0.02, p = 0.01). CONCLUSIONS: Both systems are effective in treating the venous insufficiency of the lower extremity. Monopolar system revealed a better early postoperative course with similar occlusion rate of the proximal part of saphenous vein compared with bipolar system, however; the occlusion of the lower half of the saphenous vein was significantly lower which may negatively affect long-term occlusion rates and recurrence of the disease.

Epidemiology of geriatric patients presenting to emergency departments in Europe: EGERS study.

BACKGROUND AND IMPORTANCE: Patients aged 65 and above constitute a large and growing part of emergency department (ED) visits in western countries. OBJECTIVE: The primary aim of this European prospective study was to determine the epidemiologic characteristics of elderly patients presenting to EDs across Europe. Our secondary objective was to determine the hospitalization rate, characteristics, and in-hospital mortality rates of geriatric patients presenting to EDs. DESIGN SETTING AND PARTICIPANTS: An observational prospective cohort study over seven consecutive days between 19 October and 30 November 2020, in 36 EDs from nine European countries. Patients aged 65 years and older presenting to EDs with any complaint during a period of seven consecutive days were included. OUTCOME MEASURES: Data were collected on demographics, the major presenting complaint, the presenting vital signs, comorbidities, usual medication, and outcomes after the ED, including disposition, in-hospital outcome, and the final hospital diagnosis. The patients were stratified into three groups: old (65-74 years), older (75-84 years), and oldest age (>85 years). MAIN RESULTS: A total of 5767 patients were included in the study. The median age of the patients was 77 (interquartile range: 71-84) years. The majority presented with a non-traumatic complaint (81%) and about 90% of the patients had at least one comorbid disease and were on chronic medication. An ED visit resulted in subsequent hospital admission in 51% of cases, with 9% of patients admitted to an intensive care unit. Overall in-hospital mortality was 8%, and ED mortality was 1%. Older age was associated with a higher female proportion, comorbidities, need for home care service, history of previous falls, admission rates, length of ED, and hospital stay. CONCLUSION: The characteristics of ED elderly patients and their subsequent hospital stay are reported in this prospective study.

Performance of the Enzyme Linked Fluorescent Assay in Diagnosis of HIV Infection; Comparative Evaluation with other Methods.

BACKGROUND: Our study aimed to investigate the role of the enzyme linked fluorescent assay (ELFA) method in the diagnosis of Human Immunodeficiency Virus (HIV) infection by comparing it with enzyme-linked immunosorbent assay (ELISA) and chemiluminescent microplate immunoassay (CMIA) methods and its role in the HIV diagnostic algorithm and to update the recommended algorithm for HIV testing. METHODS: We evaluated 101 HIV-reactive and 101 HIV-negative specimens. All samples were studied with the methods of anti HIV1/2 test micro-ELISA, ELFA, and CMIA. At the same time, HIV RNA PCR and western blot (WB)/rapid immunochromatographic test (RICT) were also studied with the same samples. RESULTS: All HIV RNA and WB positive samples (n = 101) were positive with micro-ELISA, CMIA and ELFA. Twenty-five negative samples of HIV RNA and WB were positive with micro-ELISA and CMIA, while just 6 samples were positive with ELFA. When all samples were evaluated together, the false positivity rate of the ELFA method was found to be 5.9%, and the false positivity rates of the micro-ELISA and CMIA methods were determined to be 31.7% and 30.7%, respectively. CONCLUSIONS: It was determined that there is a high level of agreement between the ELFA method and confirmation tests. It was thought that it might take place in the preconfirmation stage. As can be seen from the results obtained, the false positive rate by ELFA method was found to be about five times lower than that of micro-ELISA and CMIA methods. Considering that antigen (p24) and antibody positivity can be given separately with this aspect, it can be considered that there is a confirmation place in HIV diagnosis algorithm.

The cardioprotective effects of perindopril in a model of polymicrobial sepsis: The role of radical oxygen species and the inflammation pathway.

Mortality rates associated with myocardial dysfunction due to sepsis and septic shock are generally high across the world. The present study focused on the antioxidant and anti-inflammatory effects of perindopril (PER) for the purpose of preventing the adverse effects of sepsis on the myocardium and developing new alternatives in treatment. The control group received only saline solution via the oral route for 4 days. The second group underwent cecal ligation puncture (CLP), and the third underwent CLP and received PER (2 mg/kg). Rats in the third group received 2 mg/kg PER per oral (p.o.) from 4 days before induction of sepsis. Thiobarbituric acid reactive species (TBARS), total thiol (-SH), interleukin-1 beta (IL-1ß), IL-6, 8-hydroxy-2'-deoxyguanosine (8-OHdG), and nuclear factor kappa B (NF-κB/p65) levels increased in the CLP groups. In contrast, PER (2 mg/kg) decreased the levels of biochemical parameters other than total-SH and decreased 8-OHdG, NF-κB/p65 immunopositivity in rat heart tissues. The data from this study show that impairment of the oxidant/antioxidant balance and inflammatory cytokine levels in favor of inflammation in heart tissue under septic conditions results in severe tissue damage. PER administration before sepsis was shown to exhibit antioxidant and anti-inflammatory properties by reducing these effects. This in turn increased the importance of PER as new evidence of its protective effects in heart tissue.

Native thiol decreases in patients with asymptomatic primary hyperparathyroidism, especially in the presence of surgery indication.

BACKGROUND: Oxidative stress increases in many systemic and endocrine diseases. The effect of increased parathyroid hormone levels (PTH) and the effects of this hormone on oxidative stress in patients with primary hyperparathyroidism (pHPT) is unknown. We aimed to investigate the change of Thiol-disulfide (SH-SS), one of the oxidative stress parameters, in patients diagnosed with pHPT and the usability of this parameter in patients with pHPT. METHODS: Forty-six patients who recently diagnosed with asymptomatic pHPT and 40 healthy controls were included in this prospective study. In addition to routine examinations for pHPT, serum SH-SS measurements were recorded. The pHPT patients included in the study were divided into two groups as patients with and without surgical treatment indication. RESULTS: It was observed that the pHPT group had lower total SH and native SH values and higher SS values compared to the control group (P<0.05 for each). Native SH values were found to be lower in pHPT patients who were indicated for surgical treatment compared to those who did not (P<0.05). An independent relationship was found between Native SH and serum calcium, urine calcium and T scores in DEXA level in asymptomatic pHPT patients with surgical treatment indication (P<0.05). CONCLUSIONS: In our study, native SH level decreases in patients with pHPT, especially in patients with surgical treatment indication for pHPT. The decrease in SH levels, which is a natural antioxidant that protects the body against oxidative stress, and the increase in SS levels in pHPT patients may be another metabolic effect of this disease. Native SH may be helpful in determining the indication for surgical treatment in asymptomatic pHPT patients.

Heart failure in COVID-19: the multicentre, multinational PCHF-COVICAV registry.

AIMS: We assessed the outcome of hospitalized coronavirus disease 2019 (COVID-19) patients with heart failure (HF) compared with patients with other cardiovascular disease and/or risk factors (arterial hypertension, diabetes, or dyslipidaemia). We further wanted to determine the incidence of HF events and its consequences in these patient populations. METHODS AND RESULTS: International retrospective Postgraduate Course in Heart Failure registry for patients hospitalized with COVID-19 and CArdioVascular disease and/or risk factors (arterial hypertension, diabetes, or dyslipidaemia) was performed in 28 centres from 15 countries (PCHF-COVICAV). The primary endpoint was in-hospital mortality. Of 1974 patients hospitalized with COVID-19, 1282 had cardiovascular disease and/or risk factors (median age: 72 [interquartile range: 62-81] years, 58% male), with HF being present in 256 [20%] patients. Overall in-hospital mortality was 25% (n = 323/1282 deaths). In-hospital mortality was higher in patients with a history of HF (36%, n = 92) compared with non-HF patients (23%, n = 231, odds ratio [OR] 1.93 [95% confidence interval: 1.44-2.59], P < 0.001). After adjusting, HF remained associated with in-hospital mortality (OR 1.45 [95% confidence interval: 1.01-2.06], P = 0.041). Importantly, 186 of 1282 [15%] patients had an acute HF event during hospitalization (76 [40%] with de novo HF), which was associated with higher in-hospital mortality (89 [48%] vs. 220 [23%]) than in patients without HF event (OR 3.10 [2.24-4.29], P < 0.001). CONCLUSIONS: Hospitalized COVID-19 patients with HF are at increased risk for in-hospital death. In-hospital worsening of HF or acute HF de novo are common and associated with a further increase in in-hospital mortality.

Adjuvant radiofrequency thermocoagulation improves the outcome of liquid sclerotherapy in the treatment of spider veins of the leg: A pilot study.

OBJECTIVE: This study evaluated the effect of low-energy radiofrequency thermocoagulation added to standard liquid sclerotherapy on clinical outcomes of patients with venous insufficiency. PATIENTS AND METHOD: We included 111 patients with spider veins CEAP/C1 stage. The patients were randomized into sclerotherapy (Group 1) and sclerotherapy + sclerotherapy immediately followed by low energy percutaneous RF thermocoagulation (Group 2) groups and followed up with same protocols prospectively. RESULTS: The study groups did not differ in terms of the mean age, body mass index, the number of spider veins and pre-interventional venous clinical severity scores (VCSS). Patients' self-assessed satisfaction ratings of cosmetic outcomes were found to be higher compared to the baseline (p = 0.001). While both techniques caused a significant decline in VCSS at postprocedural third month, it was observed that the type of applied intervention did not affect the VCSS (p = 0.43 and p = 0.93, respectively). There was a significant difference in hyperpigmentation and trapped blood between the two groups after the procedure (p = 0.009 and p = 0.02, respectively), there was no statistically significant difference in terms of skin necrosis (p = 0.52). A significant difference in the self-assessed cosmetic outcomes was observed in patients treated with sclerotherapy followed by low energy percutaneous RF thermocoagulation compared with patients whom sclerotherapy performed alone (p = 0.001). DISCUSSION: This study suggests that radiofrequency thermocoagulation added to the sclerotherapy provides better cosmetic outcomes with less treatment sessions and no additional complication rates.

Serum G protein-coupled estrogen receptor-1 levels and its relation with death in patients with sepsis: a prospective study.

BACKGROUND: The sex hormone estrogen has an immune-supporting role in both trauma and sepsis-related to its immune-modulator role. The aim of the current study was to examine the prognostic role of (serum G Protein-coupled estrogen receptor-1) GPER-1 in sepsis and sepsis-related mortality. METHODS: Prospective evaluation was made of the data on a total 160 patients followed-up in the Intensive Care Unit because of sepsis. Patients were separated into two groups as survivor and non-survivor group. The Sequential Organ Failure Assessment (SOFA) Score, APACHE II Score and Charlson Comorbidity Index (CCI) were calculated for each patient. Serum GPER-1 levels were evaluated for each patient. RESULTS: Compared with non-survivors, the surviving patients were determined with significantly higher levels of PLT, CRP, GPER-1, SOFA, and APACHE II scores. The GPER-1 levels showed a significant positive correlation with CRP levels, SOFA, and APACHE II scores. ROC curve analysis demonstrated 85.7% sensitivity and 72.1% specificity of GPER-1 to predict 28-day mortality. GPER-1 and APACHE II scores were determined to be an independent prognostic factor for predicting mortality. CONCLUSIONS: Serum GPER-1 can be used as a new prognostic factor for survival in patients diagnosed with sepsis.

Influenza vaccination rates, knowledge, attitudes and behaviours of healthcare workers in Turkey: A multicentre study.

AIM: Influenza vaccination is the most effective method in prevention of influenza disease and its complications. Our study aimed to investigate the rates of vaccination and the behaviours and attitudes against the vaccine in healthcare workers in Turkey. METHODS: This multicentre national survey is a descriptive study in which 12 475 healthcare workers. Healthcare workers were asked to answer the questionnaire consisting of 12 questions via the survey. RESULTS: It was found that 6.7% of the healthcare workers regularly got vaccinated each year and that 55% had never had the influenza vaccine before. The biggest obstacle against getting vaccinated was determined as not believing in the necessity of the vaccine (53.1%). CONCLUSION: The rates of influenza vaccination in healthcare workers in Turkey are quite low. False knowledge and attitudes on the vaccine and disease are seen as the most important reasons to decline vaccination. It is important to detect reasons for anti-vaccination and set a course in order to increase the rates of vaccination.

De Ritis ratio: how effectively can we use in bladder cancer management?

Background: This study aims to determine the relationship between the pre-operative De Ritis ratio (DRR) and bladder cancer (BCa) pathological subtypes. Results & methodology: A total of 248 patients with primary BCa were included. Univariate and multivariate analyses were performed to identify whether DRR can be a risk factor for the presence of carcinoma in situ (CIS). There was a statistically significant difference between the nonmuscle invasive BCa risk groups and the muscle-invasive BCa group according to the median DRR levels (p < 0.001). DRR was an independent risk factor for the presence of CIS in multivariate analysis (OR: 1.909; 95% CI: 0.030-0.196; p = 0.008). Discussion & conclusion: DRR can be considered as an independent risk factor for the presence of CIS in patients with primary BCa.

Comparison of the Xpert CARBA-R Test and Phenotypical Tests for Detection of Carbapenemases Types in Multidrug Resistant K. pneumoniae Isolates.

BACKGROUND: The objective of this study is to evaluate the performance of the Xpert CARBA-R Test and the phenotyping confirmation tests (MHT, CIM, Mastdiscs, and Carba NP) for the detection of carbapenemases in multidrug resistant (MDR) Klebsiella pneumoniae isolates. METHODS: A total of 68 MDR K. pneumoniae isolates isolated from various clinical samples, were included in the study. The identification and antibiotic susceptibility tests of these isolates were performed using the VITEK®2 (BioMérieux, France) automated system. The Xpert CARBA-R test was used as the molecular method. The combined disc method was performed using Mastdiscs Combi-D70C that includes four antibiotic discs with specific in-hibitors. The modified Hodge test was performed on all isolates. Carbapenemase inactivation method (CIM) and Carba NP test was used for carbapenemase enzyme production. RESULTS: Of the 50 isolates detected to produce carbapenemase by the molecular method (Xpert CARBA-R Test), 45 (90%) were detected by MHT, 39 (78%) were detected by CIM, and 42 (84%) were detected by Mastdiscs, while all the 50 isolates were detected by the Carba NP test. When the Xpert CARBA-R Test was taken as a reference, significant differences were found between the Carba NP and Xpert CARBA-R Test. There was no significant difference between the other phenotypic methods and Xpert CARBA-R Test. The sensitivity of the MHT, CIM, combined disc, and Carba NP tests was calculated as 0.90, 0.78, 0.84, and 1 and their specificity was calculated as 0.83, 0.83, 0.83 and 0, respectively. According to the gold standard, the predictive power of MHT, CIM, and MAST methods was found to be statistically significant. CONCLUSIONS: There are various methods of carbapenemase detection, including phenotypic and molecular methods. There is no single detection method that is valid and usable in all conditions. Laboratories should choose a suitable carbapenemase detection and confirmation method in line with their needs, economic conditions, and infrastructures. Although the detection of the presence of carbapenemase by molecular methods is fast and reliable, low-cost phenotypic tests can be used in laboratories that do not have this possibility. It is an important advantage that the combined disc method can also determine the enzyme type.

Comparison of the GeneXpert® MTB/RIF Test and Conventional Methods in the Diagnosis of Mycobacterium tuberculosis.

BACKGROUND: The objective of this study is to evaluate the performance of the GeneXpert MTB/RIF system in Mycobacterium tuberculosis (MTB) diagnosis and the detection of rifampicin resistance in pulmonary and extrapulmonary clinical samples. METHODS: A total of 849 samples (611 pulmonary and 238 extrapulmonary), which were sent to the laboratory of our hospital on suspicion of MTB, were included in the study. The samples cultured on Lowenstein Jensen medium and Mycobacteria Growth Indicator Tubes. All samples were also tested with the GeneXpert MTB/RIF test. The drug susceptibility test was determined using the Bactec MGIT 960 system. RESULTS: MTB grew in the culture in 84 (9.8%) of all samples, and 78 (9.1%) were found to be positive by the GeneXpert MTB/RIF test, while acid-fast bacillus (AFB), MTB/RIF test, and culture positivity were 41 (6.7%), 74 (12.1%), and 75 (12.3%), respectively, in pulmonary samples, and these values were found to be 2 (0.8%), 4 (1.7%), and 9 (3.8%), respectively, in extrapulmonary samples. In the automated culture and susceptibility system, rifampicin resistance was detected in only one of 84 (2.6%) isolated strains. This resistant strain was also identified by the GeneXpert MTB/RIF test. According to the culture results of all samples examined, the sensitivity of the GeneXpert MTB/RIF test was calculated as 83.3%, specificity as 98.9%, PPV as 89.7%, and NPV as 98.1%. CONCLUSIONS: The GeneXpert MTB/RIF test used in the study was found to be highly successful, very quick, and requiring low workload in pulmonary samples and extrapulmonary samples in terms of sensitivity and specificity. It was observed that it can be used safely due to its high sensitivity, especially in AFB-positive samples.

Síndrome de anemia megaloblástica sensible a la tiamina de aparición en la niñez, con mutación en el genSLC19A2: caso clínico / Infantile-onset thiamine responsive megaloblastic anemia syndrome with SLC19A2 mutation: a case report

Antecedentes. El síndrome de anemia megaloblástica sensible a la tiamina (TRMA, por sus siglas en inglés), también conocido como síndrome de Rogers, se caracteriza por presentar anemia megaloblástica, hipoacusia neurosensorial y diabetes mellitus. Las alteraciones en el transporte de la tiamina hacia las células se deben a mutaciones homocigotas o heterocigotas compuestas en el gen SLC19A2. Presentación de un caso. Presentamos el caso de una niña que manifestaba sordera neurosensorial tratada con una prótesis auditiva, diabetes con necesidad de insulina y anemia macrocítica, tratada con tiamina (100 mg/día). El nivel de hemoglobina mejoró hasta alcanzar 12,1 g/dl después de aumentar la dosis terapéutica de tiamina hasta 200 mg/día. Conclusión. Se debe evaluar a los pacientes con TRMA para detectar anemia megaloblástica, hipoacusia neurosensorial y diabetes mellitus. Se les debe dar seguimiento para determinar la respuesta de la enfermedad hematológica y de la diabetes después de la terapia con tiamina. La dosis terapéutica de tiamina puede aumentarse según la respuesta clínica. Debe proporcionarse asesoramiento genético.

Background. Thiamine-responsive megaloblastic anemia syndrome (TRMA), also known as Rogers syndrome, is characterized by megaloblastic anemia, sensorineural hearing loss, and diabetes mellitus. Disturbances of the thiamine transport into the cells results from homozygous or compound heterozygous mutations in the SLC19A2 gene. Case presentation. We report a girl which presented with sensorineural deafness treated with a hearing prosthesis, insulin requiring diabetes, macrocytic anemia, treated with thiamine (100 mg/day). Hemoglobin level improved to 12.1 g/dl after dose of thiamine therapy increased up to 200 mg/day. Conclusion. Patients with TRMA must be evaluated for megaloblastic anemia, sensorineural hearing loss, and diabetes mellitus. They must be followed for response of hematologic and diabetic after thiamine therapy. It should be kept in mind that dose of thiamine therapy may be increased according to the clinical response. Genetic counseling should be given.