Validity and reliability of the MetabQoL 1.0 and assessment of neuropsychiatric burden in organic acidemias: Reflections from Turkey.

OBJECTIVES: The MetabQoL 1.0 is the first disease-specific health related quality of life (HrQoL) questionnaire for patients with intoxication-type inherited metabolic disorders. Our aim was to assess the validity and reliability of the MetabQoL 1.0, and to investigate neuropsychiatric burden in our patient population. METHODS: Data from 29 patients followed at a single center, aged between 8 and 18 years with the diagnosis of methylmalonic acidemia (MMA), propionic acidemia (PA) or isovaleric acidemia (IVA), and their parents were included. The Pediatric Quality of Life Inventory (PedsQoL) was used to evaluate the validity and reliability of MetabQoL 1.0. RESULTS: The MetabQoL 1.0 was shown to be valid and reliable (Cronbach's alpha: 0.64-0.9). Fourteen out of the 22 patients (63.6%) formally evaluated had neurological findings. Of note, 17 out of 20 patients (85%) had a psychiatric disorder when evaluated formally by a child and adolescent psychiatrist. The median mental scores of the MetabQoL 1.0 proxy report were significantly higher than those of the self report (p = 0.023). Patients with neonatal-onset disease had higher MetabQoL 1.0 proxy physical (p = 0.008), mental (p = 0.042), total scores (p = 0.022); and self report social (p = 0.007) and total scores (p = 0.043) than those with later onset disease. CONCLUSIONS: This study continues to prove that the MetabQoL 1.0 is an effective tool to measure what matters in intoxication-type inherited metabolic disorders. Our results highlight the importance of clinical assessment complemented by patient reported outcomes which further expands the evaluation toolbox of inherited metabolic diseases.

Etiology and perinatal outcomes between early and late-onset nonimmune hydrops fetalis

SUMMARY OBJECTIVE: We aimed to compare the etiology and perinatal outcomes of non-immune hydrops fetalis diagnosed early- and late-onset at our hospital. METHODS: The records of the patients who applied to our department were reviewed, and we reached 42 non-immune hydrops fetalis cases retrospectively and examined the medical records. Hydrops diagnosis week, birth week, accompanying anomalies, and perinatal outcomes were compared as ≤12 weeks (early-onset) and >12 weeks (late-onset). RESULTS: The prevalence of non-immune hydrops fetalis was 0.05%, and the median week of diagnosis for hydrops was 18 weeks. Consanguinity (16.7%) was found in seven pregnancies, and the other seven patients (16.7%) had a history of hydrops in previous pregnancies. Anomalies of the skeletal system, central nervous system, and gastrointestinal tract accounted for 66.7% of ≤12 weeks in non-immune hydrops fetalis cases. Cardiac abnormalities were more common (26.7%) in patients at > 12 weeks (p=0.078). A statistically significant difference was found between the distribution of week of birth and week of diagnosis (p=0.029). Notably, 66.7% of patients diagnosed before week 12 and 23.3% of patients diagnosed after week 12 delivered their babies before week 24. Spontaneous intrauterine death occurred before week 12 in 45.5% (n=5) of non-immune hydrops fetalis and after week 12 in 39.1% (n=9) of non-immune hydrops fetalis. Notably, 69.2% (n=9) of the patients who had prenatal invasive testing resulted in normal karyotype. CONCLUSION: In this study, most of the fetuses diagnosed with early-onset non-immune hydrops fetalis were born in the first 24 weeks. Additionally, live birth rates and cardiac anomalies were observed to be higher in late-onset non-immune hydrops fetalis.

Factors affecting the postoperative quality of life and psychological well-being in pediatric urology patients.

BACKGROUND: While most studies in pediatric urology investigate the clinical results, very few explore the relationship between surgery and quality of life and psychosocial well-being in pediatric urology practice. The determination of the effects of the surgical method on the quality of life (QoL) is of increasing importance. INTRODUCTION: This study investigated the effect of surgery type on the postoperative QoL and psychological well-being of pediatric urological surgery patients. METHODS: A total of 151 children and adolescents (4-18 years old) undergoing elective urological surgery between September 2020 and July 2021 were evaluated preoperatively; those who currently had psychiatric disorders were excluded. Of the 98 patients undergoing subsequent detailed preoperative assessment using standardized instruments to evaluate QoL and depression and anxiety symptom levels, only 63 could be re-evaluated postoperatively at a 6-month follow-up. Additionally, preoperative parental psychiatric symptom load was assessed using standardized self-report forms. RESULTS: The patients were classified into two categories for analysis-open versus endourological surgery and major versus minor surgery. In the latter category, there was a significant increase in the postoperative QoL in children undergoing minor urological surgery (p = 0.037). Furthermore, the table depicted the regression analysis indicating the predictors for lower postoperative QoL. Those predictors were higher parental preoperative psychiatric symptom load, a greater number of previous surgeries, and female gender (p < 0.001, adjusted R2 = 0.304). CONCLUSION: Postoperative QoL of children/adolescents undergoing pediatric urology surgery is affected more by the patient's preoperative medical condition and the psychological status of the patient's parents, rather than the surgical method opted for.

Do Children with Attention Deficit and Hyperactivity Disorder Present with Different Spatio-Temporal Gait Parameters? An Evaluation of the Relationship Between Gait and Gross Motor Skills.

Objective: The aim of the current study was to compare the spatio-temporal parameters of gait and gross motor skills in children with attention deficit hyperactivity disorder-combined type with those of typically developing children and to search the effect of motor skills on gait parameters in children with attention deficit hyperactivity disorder-combined type. Methods: A total of 50 children (n = 25 attention deficit hyperactivity disorder-combined type, n = 25 typically developing children) aged 5-12 years were included. Gross motor skills were evaluated using the Bruininks-Oseretsky Test Second Edition-Short Form. Spatio-temporal parameters of gait were assessed with a GAITRite® computer-based system. Results: In the subtests of Bruininks-Oseretsky Test Second Edition-Short Form (bilateral coordination (P < .001), balance (P = .013), running speed and agility (P = .003)), lower scores were obtained by the children with attention deficit hyperactivity disorder-combined type. The swing phase of gait was found to be longer in children with attention deficit hyperactivity disorder-combined type (P = .01). Conclusion: The current study results show that gross motor skills are affected negatively and the swing phase is prolonged in children with attention deficit hyperactivity disorder-combined type. Upper limb coordination and balance were also seen to have an effect on the velocity, step, and stride length. It is important to include an objective gait assessment as well as gross motor skills in the comprehensive clinical evaluation of children with attention deficit hyperactivity disorder-combined type.

Motor Proficiency, Manual Dexterity, and Visual Perception in School-age Children With ADHD: Contribution of Different Comorbidities.

Attention-deficit/hyperactivity disorder (ADHD) is often comorbid with a number of other psychiatric conditions. The goal of this study was to investigate whether motor skills, manual dexterity, and visual perception differ in the presence of ADHD and comorbid psychiatric conditions in school-age boys by comparing them to a group of children with typical development (TD). We evaluated 81 boys 6 to 10 years of age in 5 groups: ADHD only (n=18); ADHD+specific learning disorders (ADHD+SLDs) (n=17); ADHD+oppositional defiant disorder (n=16); ADHD+anxiety disorders (n=15); and TD (n=15). The participants with ADHD only and those with ADHD+comorbidity had significantly lower scores than the participants in the TD group in every area we evaluated. The lowest scores were observed in the ADHD+SLD group in all motor skills domains except for the fine motor precision field. Furthermore, the group with ADHD+SLD had statistically significantly lower scores than the 3 other groups with ADHD+comorbidity in 3 areas: balance, upper extremity coordination, and speed and agility. Motor problems in patients with ADHD and comorbid conditions may not be a focus of attention in clinics. However, especially in the case of comorbid conditions accompanying ADHD, it is important to consider problems in motor skills, manual dexterity, and visual perception in evaluation and treatment to increase these children's quality of life.

Diagnostic value of systemic immune inflammation index in acute appendicitis

SUMMARY OBJECTIVE: Clinical diagnosis of acute appendicitis is often difficult and involves a synthesis of clinical, laboratory, and radiological findings. The aim of this study was to investigate whether the systemic immune inflammation index can be used as an effective parameter in the diagnosis of acute appendicitis and its reliability in the differentiation of complicated vs. non-complicated appendicitis. METHODS: The study was conducted retrospectively with patients admitted to the emergency department with abdominal pain and diagnosed with acute appendicitis. In total, 150 patients and 150 control cases were included in the study. Demographic data, medical history, white blood cell count, platelet count, neutrophil count, systemic immune inflammation index values, Alvarado score, adult appendicitis score, and pathology result of appendectomy material were retrieved from the hospital automation system and recorded in the data form. RESULTS: Neutrophil-lymphocyte ratio and systemic immune inflammation index were significantly higher, and platelet-neutrophil ratio and lymphocyte-neutrophil ratio were significantly lower in the patient group compared to the control group (p<0.001). Receiver operating characteristic analysis revealed that the sensitivity and specificity of systemic immune inflammation index with a cutoff value of 840.13 was 82 and 66.7%, respectively, for the diagnosis of acute appendicitis. Correlation analysis revealed that systemic immune inflammation index, Alvarado score, and adult appendicitis score were positively correlated, and this correlation was statistically significant. CONCLUSION: Systemic immune inflammation index may be used to promote the diagnosis of acute appendicitis and may reduce the need for radiation exposure and diagnostic imaging tests such as contrast-enhanced abdominal computed tomography. It can also be used to differentiate between complicated and non-complicated acute appendicitis cases.

Association among COVID-19, multisystem inflammatory syndrome in children, and oral health status

Abstract The pathophysiology of multisystem inflammatory syndrome in children (MIS-C) and associated oral symptoms have not been clarified yet. The aim of the present study was to compare the oral health status of children with MIS-C-associated Coronavirus disease 2019 (COVID-19) and COVID-19. A total of 54 children with SARS-CoV-2 infection, 23 with MIS-C-associated COVID-19 and 31 with asymptomatic, mild, and moderate COVID-19 were recruited for the present cross-sectional study. Sociodemographic variables, medical examinations, oral hygiene habits, and extraoral and intraoral findings (DMFT/dmft index, OHI scores, and oral mucosal changes) were recorded. The t-test for independent samples and the Mann-Whitney U test were used (p < 0.05). MIS-C was found to be associated with chapped lips (all patients) and oral mucosal changes, including erythema, white lesion, strawberry tongue, and swelling of the gingiva as compared to the COVID-19 group (frequency of more than one mucosal change: 100% vs. 35%) (p < 0.001). Children with MIS-C presented higher DMFT/dmft scores (DMFT/dmft 5.52 ± 3.16 for the MIS-C group vs. 2.26 ± 1.80 for the COVID-19 group) (p < 0.01). Elevated OHI scores were also associated with MIS-C (mean ± SD: 3.06 ± 1.02 (MIS-C) vs. 2.41 ± 0.97 (COVID-19) (p < 0.05). Oral manifestations, mainly strawberry and erythematous tongue, were characteristic features of MIS-C. Prevalence of oral/dental symptoms was elevated in children with MIS-C when compared to COVID-19. Therefore, dental professionals should be aware of the oral manifestations associated with MIS-C, which may have high mortality and morbidity rates.

The clinical significance of lymphovascular space invasion in patients with low-risk endometrial cancer

SUMMARY OBJECTIVE: The aim of this study was to assess the effect of lymphovascular space invasion on recurrence and disease-free survival in patients with low-risk endometrial cancer. METHODS: The study included patients with stage 1A, grade 1-2 endometrioid endometrial cancer who underwent a total hysterectomy and bilateral salpingo-oophorectomy with pelvic lymphadenectomy. Independent prognostic predictors of endometrial cancer recurrence were assessed using the Cox regression model. Binary logistic regression analysis was used to identify the predictors of distant recurrence. Kaplan-Meier analysis was used to describe survival curves, and the log-rank test was used to compare the differences in survival curves. RESULTS: A total of 189 patients met the inclusion criteria, of whom 24 (12.7%) had lymphovascular space invasion. The median follow-up time was 60 (3-137) months. Distant recurrence was present in 11 of 22 patients who developed recurrence. Kaplan-Meier survival analysis showed that the 5-year disease-free survival rates of patients with lymphovascular space invasion(+) and lymphovascular space invasion(-) were 62.5 and 91.9%, respectively, which were significantly lower (p<0.001). In multivariate Cox regression analysis, the presence of lymphovascular space invasion (p<0.001) and age ≥60 years (p=0.017) remained as prognostic factors for reduced disease-free survival. In binary logistic regression analysis, only lymphovascular space invasion (adjusted OR=13, 95%CI=1.456-116.092, p=0.022) was a prognostic factor for distant recurrence. CONCLUSION: lymphovascular space invasion is a prognostic risk factor for recurrence and distant metastasis and also a predictor of poorer disease-free survival outcomes in low-risk endometrial cancer.

Anti-inflammatory and antioxidant properties of betaine protect against sepsis-induced acute lung injury: CT and histological evidence

The aim of this research was to determine the anti-inflammatory effect of betaine on sepsis-induced acute respiratory distress syndrome (ARDS) in rats through histopathological examination, radiologic imaging, and biochemical analysis. Eight rats were included in the control group, and no procedure was performed. Feces intraperitoneal procedure (FIP) was performed on 24 rats to create a sepsis-induced ARDS model. These rats were separated into three groups as follows: FIP alone (sepsis group, n=8), FIP + saline (1 mL/kg, placebo group, n=8), and FIP + betaine (500 mg/kg, n=8). Computed tomography (CT) was performed after FIP, and the Hounsfield units (HU) value of the lungs was measured. The plasma levels of tumor necrosis factor (TNF)-α, interleukin-1β (IL-1β), IL-6, C-reactive protein, malondialdehyde (MDA), and lactic acid (LA) were determined, and arterial oxygen pressure (PaO2) and arterial CO2 pressure (PaCO2) were measured from an arterial blood sample. Histopathology was used to evaluate lung damage. This study completed all histopathological and biochemical evaluations in 3 months. All evaluated biomarkers were decreased in the FIP + betaine group compared to FIP + saline and FIP alone (all P<0.05). Also, the parenchymal density of the rat lung on CT and histopathological scores were increased in FIP + saline and FIP alone compared to control and these findings were reversed by betaine treatment (all P<0.05). Our study demonstrated that betaine suppressed the inflammation and ameliorated acute lung injury in a rat model of sepsis.

Effect of the MiR-99b and MiR-135b on peritoneal carcinomatosis and liver metastasis in colorectal cancer

Abstract Aim This study aimed to evaluate the expression levels of miR-99b and miR-135b in peritoneal carcinoma and liver metastases associated with Colorectal Cancer (CRC), assess their association with the intracellular signaling pathway proteins Kirsten Rat Sarcoma Virus (KRAS) and Akt, and investigate their effects on survival. Materials and methods Changes in the KRAS gene and Akt proteins, expression levels of miR-99b and miR-135b, and factors affecting survival were compared between colorectal cancer-associated peritoneal carcinomatosis and liver metastasis. Results The expression levels of miR-99b and miR-135b and the immunohistochemical grade classification score of Akt were higher in colorectal cancer, peritoneal carcinomatosis, and liver metastasis than in normal tissues (p< 0.05). MiR-99b expression was highest in CRC, whereas miR-135b expression was highest in peritoneal carcinomatosis (p< 0.05). The expression level of miR-99b decreased and that of miR-135b increased in peritoneal and liver metastases compared with that in the tumor tissue. MiR-99b, Akt, and recurrence were risk factors that affected the overall survival rate in the model of clinical predictions (p= 0.045, p= 0.006, and p= 0.012, respectively). Conclusion While the expression of miR-99b was highest in the primary tumor, its decrease in liver metastasis and peritoneal carcinomatosis suggests that miR-99b has a protective effect against liver metastasis and peritoneal carcinomatosis. However, the detection of miR-135b expression was highest in peritoneal carcinomatosis and liver metastasis compared with that in the colorectal cancer tissues suggesting that it facilitates peritoneal carcinomatosis and liver metastasis. Furthermore, miR-99b, KRAS mutations, and Akt are risk factors for the overall survival of colorectal cancer.

Prediction of Rupture by Complete Blood Count in Tubal Ectopic Pregnancies Treated with a Single-Dose Methotrexate Protocol / Predição de ruptura por hemograma completo em gestações ectópicas tubárias tratadas com protocolo de dose única de metotrexato

Abstract Objective The availability of reliable and inexpensive markers that can be used to determine the risk of rupture during methotrexate (MTX) treatment in ectopic pregnancies (EPs) is considerable. The aim of the present study is to investigate the role of systemic inflammatory markers such as leukocytes (or white blood cells, WBCs), the neutrophil-to-lymphocyte ratio (NLR), and platelet distribution width (PDW), which are among the parameters of the complete blood count (CBC), in the prediction of rupture of EPs under MTX treatment. Materials and Methods A total of 161 patients with tubal EP who underwent a single-dose methotrexate (MTX) protocol were retrospectively analyzed, and the control group (n = 83) included patients cured by MTX, while the ruptured group (n = 78) included patients who were operated on for tubal rupture during the MTX treatment. The features of EP, beta-human chorionic gonadotropin (β-hCG) levels, sonographic findings, and CBC-derived markers such as WBC, NLR, and PDW, were investigated by comparing both groups. Results The NLR was found to be higher in the ruptured group, of 2.92 ± 0.86%, and significantly lower in the control group, of 2.09 ± 0.6%. Similarly, the PDW was higher (51 ± 9%) in the ruptured group, and it was significantly lower a (47 ± 13%) in the control group (p < 0.05). Other CBC parameters were similar in both groups (p > 0.05). Conclusion Systemic inflammation markers derived from CBC can be easily applied to predict the risk of tubal rupture in Eps, since the CBC is an inexpensive and easy-to-apply test, which is first requested from each patient during hospitalization.

Resumo Objetivo A disponibilidade de marcadores confiáveis e baratos que podem ser usados para determinar o risco de ruptura durante o tratamento com metotrexato (MTX) em gestações ectópicas (GEs) é considerável. O objetivo do presente estudo é investigar o papel de marcadores inflamatórios sistêmicos, como leucócitos (ou glóbulos brancos, glóbulos brancos), a relação neutrófilo-linfócito (NLR) e largura de distribuição de plaquetas (PDW), que estão entre os parâmetros do hemograma completo (hemograma), na predição de ruptura de PEs sob tratamento com MTX. Materiais e Métodos Foram analisados retrospectivamente 161 pacientes com EP tubária submetidas a protocolo de dose única de metotrexato (MTX), sendo que o grupo controle (n = 83) incluiu pacientes curadas com MTX, enquanto o grupo roto (n = 78) incluíram pacientes operadas por ruptura tubária durante o tratamento com MTX. As características de EP, beta-gonadotrofina coriônica humana (β-hCG), achados ultrassonográficos e marcadores derivados de CBC, como WBC, NLR e PDW, foram investigados comparando os dois grupos. Resultados A RNL foi maior no grupo roto, de 2,92 ± 0,86%, e significativamente menor no grupo controle, de 2,09 ± 0,6%. Da mesma forma, o PDW foi maior (51 ± 9%) no grupo roto, e foi significativamente menor a (47 ± 13%) no grupo controle (p < 0,05). Outros parâmetros do hemograma foram semelhantes em ambos os grupos (p > 0,05). Conclusão Marcadores inflamatórios sistêmicos derivados do hemograma podem ser facilmente aplicados para predizer o risco de ruptura tubária na Eps, uma vez que o hemograma é um exame de baixo custo e fácil aplicação, solicitado primeiramente a cada paciente durante a internação.

Effect of the Sample Preparation and Light-curing Unit on the Microhardness and Degree of Conversion of Bulk-fill Resin-based Composite Restorations.

OBJECTIVE: To evaluate the effect of the sample preparation and light-curing units (LCUs) on the Knoop hardness (KH, N/mm2) and degree of conversion (DC, %) of bulk-fill resin-based composite restorations. METHODS: Two molds were made using human molar teeth embedded in acrylic resin. One was a conventional tooth mold where the molar received a mesio-occluso-distal (MOD) preparation. In the other, the tooth was sectioned in three slices (buccal, middle, and lingual). The center slice received a MOD preparation similar to the conventional mold. Both tooth molds were placed in the second mandibular molar position in a Dentoform with a 44-mm interincisal opening. Restorations were made using Opus Bulk Fill (FGM) high viscosity bulk-fill resin-based composite (RBC) and light cured using two different lights: VALO Cordless (Ultradent) and Bluephase G2 (Ivoclar Vivadent). The RBC was placed in one increment that was light-cured for a total of 80 seconds (40 seconds at the occluso-mesial and occluso-distal locations). The RBC specimens were then prepared as follows: EmbPol - tooth mold specimen was embedded in polystyrene resin and polished before testing; Pol - tooth mold specimen was not embedded, but was polished before testing; NotPol - sectioned tooth mold, specimen not embedded nor polished before testing. The KH was measured in different depths and regions of the specimens, and the DC was measured using Raman spectroscopy. RESULTS: The results were analyzed using a 2-way analysis of variance (ANOVA) or repeated measures followed by the Tukey post-hoc test (α=0.05). The preparation method (p<0.001), depth of restoration (p<0.001), and the interaction between method and depth (p=0.003) all influenced the KH values. Preparation method (p<0.001), tooth region (p<0.001), and the interaction between method and tooth region (p=0.002) all influenced DC values. The KH values were reduced significantly from the top to the bottom of the restorations and also at the proximal box when compared with the occlusal region. This outcome was most significant in the proximal boxes. The NotPol method was the most effective method to detect the effect of differences in KH or DC within the restoration. A lower DC and KH were found at the gingival regions of the proximal boxes of the restorations. When the KH and DC values were compared, there were no significant differences between the LCUs (KH p=0.4 and DC p=0.317). CONCLUSION: Preparation methods that embedded the samples in polystyrene resin and polished the specimens reduced the differences between the KH and DC values obtained by different preparation techniques. The NotPol method was better able to detect differences produced by light activation in deeper areas.

Obesity effects on sleep quality with anthropometric and metabolic changes

SUMMARY OBJECTIVE: Obesity is one of the etiological factors of sleep disorders (e.g., obstructive sleep apnea and restless leg syndrome). The aim of this study was to determine the effect of obesity on sleep quality by using the Pittsburgh Quality İndex and Berlin Question are and evaluate the association of sleep with anthropometric and metabolic parameters. METHODS: A total of 76 patients (41 females and 35 males) between the ages of 18 and 70 years with a body mass index >30 kg/m2 were included in this study. Homeostatic model assessment-insulin resistance, hemoglobin A1c, alanine aminotransferase, aspartate transaminase, total cholesterol, low-density lipoprotein, triglyceride, high-density lipoprotein, and thyroid-stimulating hormone levels were analyzed. Sleep quality was evaluated with the Pittsburgh Sleep Quality Index, Berlin Questionnaire, and the Restless Leg Syndrome Questionnaire. RESULTS: A significant correlation was observed between Pittsburgh sleep quality index and body mass index, neck circumference, body fat index, muscle mass, hip and waist circumference, hemoglobin A1c, and homeostatic model assessment-insulin resistance (ps<0.005). The Pittsburgh sleep quality index median (2.5-97.5 percentile) value was 8 (2-18.6) in the patient group and 3.5 (0.1-7.9) in the control group (p<0.0001). Body mass index was found to be the predictor on Pittsburgh sleep quality index (R2=0.162, F=3.726, analysis of variance p=0.008). Notably, 88% (67) and 95% (57) of the poor sleepers were found to be at high risk for obstructive sleep apnea according to Berlin Questionnaire and Pittsburgh Sleep Quality Index, respectively. Also, the frequency of restless leg syndrome was 45% in obese individuals. CONCLUSIONS: We observed a significant correlation between Pittsburgh sleep quality index and the anthropometric and metabolic parameters. Also, the frequency of obstructive sleep apnea and restless leg syndrome was 88% and 45%, respectively, in obese individuals.

Patient's point of view on the diagnosis, treatment, and follow-up in acromegaly: single-center study from a tertiary center

SUMMARY OBJECTIVE: We aimed to evaluate the awareness and perspectives of acromegaly patients in the diagnosis and treatment processes and to evaluate basic clinical and demographic features. METHODS: This cross-sectional study was conducted at the Endocrinology Department of Yildirim Beyazit University between March 2019 and April 2020. A total of 58 acromegalic patients were enrolled. All patients were identified from our database and called for a clinical visit and filling the questionnaire forms. RESULTS: A total of 58 patients were included in this study (41.4% female). The mean age of the patients was 52±10.8 years. Median year from symptom to diagnosis (min-max) was 2 (1-12). Notably, 55.2% of the patients did not graduate from high school. Of the 58 patients, 30 (51.7%) patients had knowledge about the etiology of their disease. While 12 (20.7%) patients identified their initial symptoms themselves, 75% of the patients reported their symptoms during the clinical history taken by a health care professional. The majority of patients were diagnosed by an endocrinologist (69%). Acromegaly did not affect social life but affected work life and caused early retirement. Transsphenoidal surgery was performed as primary treatment in 96.6% of the patients (n=56). In all, 46 (79.3%) patients received medical treatment with somatostatin receptor ligands (e.g., octreotide or lanreotide long-acting release [LAR]) with or without cabergoline. Overall disease control was achieved in 38 (65.5%) patients. CONCLUSIONS: Acromegaly is usually detected incidentally by clinicians. The diagnosis of acromegaly is delayed in most patients and disease-related complications have already developed at the time of diagnosis. Therefore, increasing the awareness of the society and health care professionals will reduce both disease-related comorbidities and the economic burden on the health system.

Feasibility of hybrid in-stream generator-photovoltaic systems for Amazonian off-grid communities.

While there have been efforts to supply off-grid energy in the Amazon, these attempts have focused on low upfront costs and deployment rates. These "get-energy-quick" methods have almost solely adopted diesel generators, ignoring the environmental and social risks associated with the known noise and pollution of combustion engines. Alternatively, it is recommended, herein, to supply off-grid needs with renewable, distributed microgrids comprised of photovoltaics (PV) and in-stream generators (ISG). Utilization of a hybrid combination of renewable generators can provide an energetically, environmentally, and financially feasible alternative to typical electrification methods, depending on available solar irradiation and riverine characteristics, that with community engagement allows for a participatory codesign process that takes into consideration people's needs. A convergent solution development framework that includes designers-a team of social scientists, engineers, and communication specialists-and communities as well as the local industry is examined here, by which the future negative impacts at the human-machine-environment nexus can be minimized by iterative, continuous interaction between these key actors.

Clinical, paraclinical and genetic aspects of autosomal recessive cerebellar ataxias (ARCA) in Mali.

Introduction: Autosomal recessive cerebellar ataxias (ARCA) are a group of rare and heterogynous neurodegenerative diseases mainly characterized by unbalance and walking difficulty and movement incoordination. Objectives: To clinically and paraclinically characterize ARCA in the department of Neurology at the Teaching Hospital of Point G and identify the underlying genetic defect. Patients and method: We have conducted a longitudinal and prospective study from January 2018 to December 2020. Patients with ARCA phenotype seen in the Department of Neurology at the Teaching Hospital of Point "G" were enrolled. Results: We have enrolled 7 families totaling 13 patients after giving an informed verbal and written consent. The sex ratio was 2.2 in favor of males, Kayes region and Fulani ethnic group were respectively the most represented region and ethnic group.Walking difficulty represented the major symptom followed by loss of vibration and joint sense, nystagmus, dysarthria and skeletal deformities. Alpha-foetoprotein level was high in one patient. Genetic testing confirmed Friedreich ataxia in one family and was not conclusive in 4 families. Conclusion: This study showed that ARCA are not uncommon in Mali and genetic testing is crucial to confirm the diagnosis.

Introduction: Les ataxies cérébelleuses autosomiques récessives (ACAR) constituent un groupe de maladies neurodégénératives rares et hétérogènes caractérisées essentiellement par un trouble de l'équilibre et de la marche, et un trouble de la coordination des mouvements. Objectifs: Caractériser les signes cliniques, paracliniques et génétiques des ataxies cérébelleuses autosomiques récessives au Service de Neurologie du CHU du Point "G". Patients et méthodes: Nous avons réalisé une étude de cas enrôlé dans le cadre d'une étude longitudinale et prospective allant de Janvier 2018 à Décembre 2020, portant sur des patients présentant des symptômes d'ACAR et ayant donné leur consentement éclairé. Résultats: Nous avons enrôlé sept familles totalisant 13 patients. Le sexe ratio était de 2,2 en faveur des hommes, la région de Kayes était la plus représentée et l'ethnie peulh était majoritaire. Les troubles de la marche ont représenté les signes majeurs suivis de troubles de la sensibilité profonde, de nystagmus, de dysarthrie, et des déformations ostéoarticulaires. L'alpha-foetoprotéine était élevée chez une patiente. Le test génétique a retrouvé l'ataxie de Friedreich dans une famille et n'a pas été concluant dans quatre autres. Conclusion: Cette étude montre que les ACAR ne sont pas rares au Mali et l'exploration génétique constitue un outil indispensable pour leur diagnostic de certitude.

Uma Apresentação Rara de COVID-19 com Embolia Pulmonar / A Rare Presentation of COVID-19 with Pulmonary Embolism

Resumo A doença de coronavírus 2019 (COVID-19) foi relatada em quase todos os países do mundo desde dezembro de 2019. A infecção por SARS-CoV-2 é frequentemente assintomática ou com sintomas leves, mas também pode levar à hipóxia, um estado hiperinflamatório e coagulopatia. Os parâmetros de coagulação anormais estão associados a complicações trombóticas, incluindo embolia pulmonar na COVID-19, mas pouco se sabe sobre os mecanismos. A semelhança dos sintomas iniciais de ambas as doenças também pode ser confusa, portanto, os médicos devem estar cientes do potencial para condições concomitantes. Apresentamos aqui um caso que não apresentava opacidades em vidro fosco nos pulmões, mas apresentava embolia pulmonar e derrame pleural em associação com infecção por COVID-19.

Abstract Coronavirus disease 2019 (COVID-19) has been reported in almost every country in the world since December 2019. Infection with SARS-CoV-2 is often asymptomatic or with mild symptoms, but it may also lead to hypoxia, a hyperinflammatory state, and coagulopathy. The abnormal coagulation parameters are associated with thrombotic complications, including pulmonary embolism in COVID-19, but little is known about the mechanisms. The similarity of initial symptoms of both diseases can also be confusing, therefore the physicians should be aware of the potential for concurrent conditions. Herein, we present a case who did not have ground-glass opacities in the lungs, yet presented with pulmonary embolism and pleural effusions in association with COVID-19 infection.

The effectiveness of dexamethasone on the prognosis of dialysis patients with severe COVID-19

SUMMARY OBJECTIVE: This study aimed to investigate the effectiveness of dexamethasone in dialysis patients with COVID-19 and whether it predicts mortality. METHODS: This is a comparative cross-sectional study of 113 consecutive patients with COVID-19 with severe pneumonia signs. The patients were divided into two groups according to the use of dexamethasone treatment: group 1 (n=45) included patients who were treated with dexamethasone and group 2 (n=68) who did not receive dexamethasone. RESULTS: The mean age of both groups was 67.0±10.6 and 67.2±13.0 years, respectively (p=0.947). With respect to demographic and laboratory findings, there were no significant differences between the two groups (p>0.05). The hospitalization time of patients in group 1 was longer than that in group 2 (11 [7-17] days vs. 8 [5.3-14] days, p=0.093]. The 28-day survival rate was 54.2% in the group receiving dexamethasone treatment and 79.5% in the group not receiving dexamethasone treatment (p=0.440). CONCLUSION: Dexamethasone did not reduce mortality rates and the requirement for intensive care unit in dialysis patients with COVID-19. Larger prospective randomized clinical trials are required to associate personalized medicine with the corticosteroid treatment to select suitable patients who are more likely to show a benefit.

Early results of novel robotic surgery-assisted low anterior resection for rectal cancer and transvaginal specimen extraction by using Da Vinci XI: initial clinical experience

SUMMARY OBJECTIVE: The aim of this study is to evaluate the early results of robotic surgery-assisted low anterior resection for rectal cancer and transvaginal specimen extraction, regarding the operative time, operative and early postoperative complications, hospital stay, and pathological reports in a series of 10 patients. METHODS: From November 2016 to October 2019, case series study on patients diagnosed with RC was included in this study. All robotic-assisted low anterior resection of the rectum, vaginal removal of the specimen, colorectal anastomosis, and loop ileostomies were performed using the Da Vinci XI system. RESULTS: The mean age of patient was 64.8 (58-72) years. Low anterior resection was performed to seven patients, and very low anterior resection was performed to three patients. Total mesorectal excision of the rectum, transvaginal specimen extraction, transanal anastomoses, and protective ileostomy were performed in all 10 patients. The mean operative time was 275±30.50 min, and estimated blood loss was 50±10.50 mL. No patient required conversion to conventional surgery. Negative circumferential resection, proximal, and distal margins were accomplished negative. Mean number of lymph nodes harvested was 20±5.5. According to the pathological reports, all were adenocarcinoma. T1 stage was 80.0%, and T2 stage was 20.0%. Lymph node metastasis accounted for 80.0%. CONCLUSIONS: To our literature search, this is the first study reporting the early outcomes of the novel robotic surgery-assisted low anterior resection for rectal cancer and transvaginal specimen extraction by using the Da Vinci Xi system. It can be performed safely and successfully in selected patients by providing an excellent cosmetic body image, which may be important for women.

Gamma-glutamyl transpeptidase-platelet ratio, systemic immune inflammation index, and system inflammation response index in invasive Aspergillosis

SUMMARY OBJECTIVE: Gamma-glutamyl transpeptidase-platelet ratio, system inflammation response index, and systemic immune inflammation index are three systemic immune and inflammation indexes that were investigated for their diagnostic and prognostic proficiencies in cardiovascular diseases and cancers. However, their predictive values for invasive aspergillosis have not yet been studied. The aim of this study was to evaluate Gamma-glutamyl transpeptidase-platelet ratio, system inflammation response index, and systemic immune inflammation index levels and their diagnostic values in invasive aspergillosis. METHODS: A total of 23 patients with invasive aspergillosis and 23 sex- and age-matched healthy participants were included in this study. Complete blood count parameters and liver function tests were studied. Gamma-glutamyl transpeptidase-platelet ratio, system inflammation response index, and systemic immune inflammation index were calculated. RESULTS: Leukocyte, neutrophil, lymphocyte, and monocyte levels were statistically significantly higher in IA group (p=0.031, p=0.027, p=0.033, and p=0.001, respectively). In invasive aspergillosis group, platelets were numerically lower; Aspartate transaminase, alanine aminotransferase, and lactic dehydrogenase levels were numerically higher than those in control group but differences between levels were not statistically significant (p>0.05). The γ-glutamyl transpeptidase levels of patients were statistically significantly higher (p=0.007), and in addition, statistically significant differences were found between groups in terms of gamma-glutamyl transpeptidase-platelet ratio, system inflammation response index, and systemic immune inflammation index (p<0.001, p=0.037, p=0.001, respectively). Receiver operating characteristic analysis was performed, and areas under the curves were evaluated. gamma-glutamyl transpeptidase-platelet ratio had the higher area under the curve than systemic immune inflammation index and system inflammation response index (AUC 0.849, 0.798, 0.693, respectively). The results from receiver operating characteristic analysis of the data suggested that the use of a cutoff value of 0.15 for gamma-glutamyl transpeptidase-platelet ratio would be optimum for clinical use to confirm independent predictors of patients with invasive aspergillosis. CONCLUSIONS: Gamma-glutamyl transpeptidase-platelet ratio is an independent, a useful predictor, and is superior to other evaluated markers in the diagnosis of inflammation in invasive aspergillosis. Gamma-glutamyl transpeptidase-platelet ratio may also be a helpful biomarker for clinicians to follow-up the inflammatory process of these patients.