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Sickle cell disease (SCD) is a common hemoglobinopathy, secondary to alterations in the β globin chain, resulting in an abnormal hemoglobin variant named as hemoglobin S. These disorders show a wide phenotypical spectrum, and the prevalence of these disorders has significantly changed over the time because of multiple factors such as migration. We report a case of a 17-year-old black male, born in Gambia, diagnosed with sickle cell disease, who presented an associated mutation only described in a Japanese family (Oshima et al., 1996).

La degradación de los suelos en áreas naturales protegidas (ANP) de México se deriva del comportamiento irracional de la sociedad en estos espacios geográficos, aunado al carente diseño, instrumentación y regulación de políticas de manejo por parte de las autoridades facultadas. Cimentada en esta realidad, la presente investigación tuvo por objetivo determinar el uso potencial del suelo mediante la modelación geoespacial de variables agroecológicas y forestales del territorio administrativo del Parque Otomí-Mexica del Estado de México. Para su desarrollo se diseñó la siguiente metodología: a) selección de variables agroecológicas y forestales de acuerdo con las características geográficas del territorio; b) ponderación de variables mediante el método Scoring; c) modelación geoespacial de variables mediante métodos superposición en ambiente de sistemas de información geográfica ( SIG) y d) validación de la información. Los resultados exponen que, de acuerdo con la modelación de las variables territoriales, el espacio administrativo del parque es adecuado para desarrollar actividades vinculadas con el desarrollo forestal en más del 85% de su superficie terrestre.

Summary Automated seizure detection in long-term video-EEG recordings is far from being integrated into common clinical practice. Here, we leverage classical and state-of-the-art complexity measures to robustly and automatically detect seizures from scalp recordings. Brain activity is scored through eight features, encompassing traditional time domain and novel measures of recurrence. A binary classification algorithm tailored to treat unbalanced dataset is used to determine whether a time window is ictal or non-ictal from its features. The application of the algorithm on a cohort of ten adult patients with focal refractory epilepsy indicates sensitivity, specificity, and accuracy of 90%, along with a true alarm rate of 95% and less than four false alarms per day. The proposed approach emphasizes ictal patterns against noisy background without the need of data preprocessing. Finally, we benchmark our approach against previous studies on two publicly available datasets, demonstrating the good performance of our algorithm., Graphical Abstract, Highlights • Complexity measures are formulated to enhance classical time-domain statistics of EEG • The detection algorithm does not need ad-hoc data preprocessing to address artifacts • Focal seizures are detected 95% of the time with less than four false alarms per day • The approach offers a visual representation of a seizure as a time-evolving network, Computer Application in Medicine; Computer-Aided Diagnosis Method; Clinical Neuroscience; Techniques in Neuroscience; Algorithms

Objective The aim of this study was to determine the possible relationship between the Sp1 polymorphism of gene COL1A1 and bone metabolism disorder in individuals with epilepsy. Methods To this end, we carried out an observational cross-sectional study on 64 patients in monotherapy with an antiepileptic drug. The patients were classified on the basis of the presence of the 's' allele of the COL1A1 Sp1 polymorphism. Results In the patients with SS, the standardized bone mineral density (sBMD) in the left femoral neck was 1024.9±206.1 mg/cm, whereas in the patients with Ss or ss, the density was significantly lower, 917±141.4 mg/cm (P=0.027), as was the femoral t-score (0.72±1.67 vs. -0.29±1.15, P=0.01). The values in the lumbar spine were equally greater in those with SS: 1219.1±236.3 versus 1090.5±142.7 mg/cm for the sBMD (P=0.018) and 0.67±1.98 versus -0.34±1.16 for the lumbar t-score (P=0.023). The bone biomarkers showed no significant differences nor did the 25-OH vitamin D and parathormone values. In the patient group treated with valproic acid (VPA), the densitometric values were significantly lower in the Ss or ss patients compared with SS homozygotes: 887.1±142.6 versus 1120.6±198.2 mg/cm for femoral sBMD (P=0.02), 990±98.1 versus 1417±251.2 mg/cm for lumbar sBMD (P=0.001). Of the patients who were carriers of the 's' allele and who were treated with VPA, 86% achieved osteopenia values. Conclusion In our study, the presence of the 's' allele of the COL1A1 Sp1 polymorphism in individuals with epilepsy was related to lower bone BMD (lumbar and femoral). This relationship seemed to be further apparent in the patients undergoing treatment with VPA.

Highlights • Priapism is a condition characterized by ≥4 hr continues penile erection, without sexual stimulation. • The most common causes of ischemic priapism is the idiopathic. • The presence of extra-urological signs and symptoms must suggest malignancy. • The main step is establishing specific treatment of the underlying disease. • Surgery is reserved only if conservative therapy was unsatisfactory., Introduction Priapism is an uncommon sign and sometimes considered a diagnosis challenge into systemic disease; this is defined as ≥4 h continuous penile erection, without sexual stimulation. We state that this work has been reported in line with the SCARE criteria Presentation of case A Mexican 52-year-old man was brought to the emergency room with priapism of six days of evolution. His medical history reported fatigue and waxy pallor had begun a month ago, the rest of interrogation was unremarked. Hyperleukocitosis (>250,000 cells/ml) was documented on his preoperative evaluation, the initial step was hematology consultation due to malignance suspicion, followed by corpora cavernosa drainage-irrigation and surgery penis shunts. After of procedure, we realized bone marrow aspiration, kariotype and cytogenetic analysis, histopathological and moleculars assay reported myeloid hyperplasia compatible with acute phase CML and Philadelphia translocation t(9:22) (q34;q11.2) with P210 BCR-ABL1 fusion transcriber, patient was discharged with dasatinib for maintenance phase. Actually, he has a satisfactory evolution without relapses. Discussion The majority of reported cases shows the individual importance of hematological diseases in priapism as it is shown in the analysis of the literature of 10 years (2006–2016) that we made. It is imperative to consider the type of priapism, and the genetic and demographic patient aspects due to the early and correct approach improves the short and long term outcome of the hematological patients. Conclusion Priapism is an uncommon sign of systemic disease. In the presence of warning signs, malignancy should be considered until proven otherwise.

Antiepileptic drugs have been known to worsen myasthenia gravis (MG) symptoms, and therefore, in patients who suffer both conditions (myasthenia and epilepsy), treatment selection is difficult. We report 2 cases of patients with MG who were safely treated with lacosamide. Evidence about antiepileptic drug treatment and adverse effects in MG is reviewed.

Las lesiones cerebrales secundarias a un ictus se manifiestan según la estructura neurológica afectada. Las complicaciones por afectación del centro respiratorio pueden ser causa de una ventilación mecánica prolongada. Entre estas complicaciones se encuentra la llamada "maldición de Ondine", que hace referencia a una rara enfermedad neurológica causada por el fallo en la respiración espontánea. Los pacientes no son capaces de respirar automáticamente, y necesitan consciente y voluntariamente realizar la respiración por ellos mismos. En este artículo presentamos el caso de una mujer que tras un ictus hemorrágico cerebeloso desarrolla un síndrome de hipoventilación alveolar central secundario a una lesión del centro respiratorio. Realizamos una revisión de la etiología, el mecanismo fisiopatológico, el diagnóstico y el tratamiento del síndrome de Ondine.

Antecedentes: El receptor sérico de transferrina (RsTf) ofrece ventajas para evaluar el estado de hierro celular por no alterarse en situaciones de enfermedad aguda o crónica Objetivo: Establecer valores de referencia para nuestro laboratorio del RsTf en niños sanos, conocer la distribución de esta variable en niños con enfermedad aguda y en niños con déficit de hierro, así como evaluar el rendimiento diagnóstico del RsTf para distinguir anemia ferropénica de anemia infecciosa y de sus parámetros relacionados con la ferritina (F): cociente RsTf/F e índice RsTf-F (RsTf/log ferritina) Pacientes y métodos: Análisis descriptivo transversal durante un período de 18 meses en 132 niños entre 6 meses y 16 años de edad que fueron divididos en tres grupos: sanos, con enfermedad aguda y con déficit de hierro, estudiando la distribución del RsTf, y evaluando su rendimiento diagnóstico para diferenciar la anemia ferropénica de la anemia que acompaña a enfermedad aguda Resultados: De los 132 pacientes, 30 se excluyeron por no contar con alguno de los parámetros relevantes de este estudio y 19 fueron apartados por ser portadores de rasgo talasémico. En los 30 niños sanos la media del RsTf fue 1,2 mg/l (desviación estándar [DE], 0,36); mediana 1,02 (rango intercuartílico [RIQ], 0,7–1,7). Los 32 niños con enfermedad aguda, con o sin anemia, mostraron valores de RsTf similares a los de niños sanos (p > 0,05). Los valores del RsTf fueron superiores en niños con déficit de hierro (21 niños; RsTf, M 1,67 mg/l; DE, 0,98) que en niños sanos, aunque sin significación estadística (p = 0,08). Los valores más altos del RsTf correspondieron a niños con anemia ferropénica (RsTf, M 2,13 mg/l; DE, 1,14), con una diferencia estadísticamente significativa respecto a los niños sanos (p = 0,04) y a los niños con ferropenia latente (niños con déficit de hierro pero sin anemia) (p = 0,01). El cociente RsTf/F mostró un rendimiento diagnóstico óptimo para distinguir entre anemia ferropénica y anemia por enfermedad aguda. Con valores de este cociente superiores a 80,7 se puede sospechar como causa de la anemia la ferropenia con un valor global de la prueba de 100% (intervalo de confianza del 95 % [IC 95 %], 75,91–99,42) Conclusiones: El RsTf puede ser de utilidad para la evaluación del estado de hierro intracelular en niños. Sus valores no se modifican durante procesos agudos y en combinación con la ferritina ofrece un rendimiento diagnóstico óptimo para distinguir anemia ferropénica de anemia infecciosa : Background: The serum transferrin receptor (TfR) presents certain advantages over other parameters of cellular iron status because it does not vary in acute or chronic diseases Objective: To establish reference ranges of TfR in healthy children for our laboratory, to define the distribution of this variable in children with acute illness and in those with iron deficiency, and to evaluate the diagnostic yield of TfR, the transferrin-receptor/ferritin ratio (TfR/F) and the transferrin- receptor-ferritin index (TfR-F) in distinguishing ferropenic from infectious anemia Patients and methods: A descriptive, cross-sectional analysis was conducted in 132 children aged from 6 months to 16 years for a period of 18 months. The subjects were classified in three groups: healthy children, children with acute illness, and children with iron deficiency. The distribution of TfR and its diagnostic yield were evaluated Results: Of the 132 subjects, 30 were excluded because they lacked one or more of the parameters under analysis and 19 were excluded because they showed a thalassemic trait. In the 30 healthy children, the mean TfR concentration was 1.2 mg/l (SD 0.36) and the median was 1.02 (IQR 0.7–1.7). In the 32 children with acute illness, with or without anemia, TfR values were similar to those found in healthy children (p > 0.05). TfR values were higher in children with iron deficiency (21 patients; mean TfR value: 1.67 mg/l SD 0:98) than in healthy children but this difference was not statistically significant (p 0.08). The highest TfR values were found in the group with ferropenic anemia (mean TfR value: 2.13 mg/l SD 1.14) with a statistically significant difference between healthy children (p 0.04) and those with iron deficiency without anemia (p 0.01). The TfR/F ratio showed an optimal diagnostic yield in distinguishing ferropenic from acute disease anemia. If this ratio is higher than 80.7 ferropenia can be suspected as the cause of the anemia with a global value of the test of 100 % (95 % CI: 75.91–99.42) Conclusions: TfR could be useful in evaluating intracellular iron status in children. Acute disease does not alter TfR values and, in combination with ferritin, TfR offers an optimal diagnostical yield in distinguishing ferropenic from acute illness anemia

Introduction: Patients with PNH often need surgery due to disease-related complications. However, surgery, anesthesia, and possible surgical complications, including inflammation and acidosis, can trigger complement activation, making surgery an important risk factor for hemolysis (Ando K, et al. Ann Hematol 2012;91:1987-8; van Bijnen ST, et al. Eur J Haematol 2011;87:376-8). Here we report data on the clinical management and treatment results of patients with PNH undergoing surgery. Patients and Methods: We collected data on 14 surgical interventions of 11 patients (8 males; age, 25-76 years). All patients had a high prevalence of PNH clone cells (55-99% in PMN) and were receiving eculizumab (ECU). Types of surgery were: 6 laparoscopic cholecystectomies, a transjugular intrahepatic portosystemic shunt, a distal splenorenal shunt, a laparoscopic Achilles allograft ligamentoplasty, a gastrectomy, an emergency appendectomy, and 3 urologic interventions. Ten patients received ECU 900 mg, while one (patient E, surgery 6) received 1200 mg since he had developed hemolysis at a previous surgical intervention (surgery 5). In two cases (patient G, surgery 8; patient H surgery 11), an additional dose of ECU was administered before surgery. Patient H (surgery 11) had developed hemolysis at previous surgical interventions (surgeries 9 and 10). In most cases, either the date of the ECU dose was taken into account when scheduling surgery or the ECU dose was moved forward to coincide with the date of surgery. The time between the last ECU dose and surgery was normally one day (range, 1-8). Results: In nine cases, transfusions were required due to hemorrhagic complications. Patient I (surgery 12) had a thrombotic event leading to acute myocardial infarction one week after surgery. Increased hemolysis was observed (increased LDH and/or presence of hemoglobinuria) in five cases (patients E, H, I and K; surgeries 5, 9, 10, 12 and 14) during the week following surgery. Two of these patients (patients E and H) later underwent additional surgery (surgery 6, and surgeries 10 and 11, respectively). The pre-surgical ECU dose was increased in surgery 6 (patient E) and an extra dose was administrated in surgery 11 (patient H) and no hemolysis was observed. (See Table.) Discussion: Our findings lead us to recommend that the date of surgery and/or the date of the ECU dose should be adapted to allow as short a time as possible between the last dose of ECU and surgery. Preferably, ECU should be administered just before surgery in order to avoid complications. The normal ECU dose could be increased or an extra dose be administered in order to minimize the risk of hemolysis in high-risk patients or in those with a previous history of surgery-related hemolysis. Table Table. Disclosures No relevant conflicts of interest to declare.

Objetivo: comprobar si las mutaciones del gen HFE, que pueden inducir sobrecarga hepática de hierro, guardan relación con el riesgo de desarrollar carcinoma hepatocelular (CHC) en sujetos predispuestos a sufrir este tumor. Material y métodos: se han incluido 196 pacientes (161 varones) diagnosticados de CHC. Ninguno estaba diagnosticado de hemocromatosis. El grupo control estaba constituido por 181 sujetos sanos. Todos los sujetos eran españoles de raza blanca.Las mutaciones C282Y y H63D del gen HFE se identificaron mediante reacción en cadena de polimerasa (PCR) sobre ADN genómico leucocitario utilizando enzimas de restricción específicas. Resultados (casos/controles): 1. Distribución genotípica: a) mutación C282Y: 1/0 homocigotos, 12/23 heterocigotos, 183/158 normales (p = 0,07, n.s.); y b) mutación H63D: 9/5 homocigotos, 85/52 heterocigotos, 102/124 normales (odds ratio 2,00, IC95% 1,29-3,12, p = 0,002). Cuatro casos y seis controles eran heterocigotos compuestos. 2. Frecuencias alélicas: a) mutación C282Y: normales 378/339, mutados 14/23 (p = 0,11, n.s.); b) mutación H63D: normales 289/300; mutados 103/62 (odds ratio 1,72, IC95% 1,19-2,50, p = 0,004). No se observaron diferencias en relación con el sexo, la edad o la etiología (VHC, VHB, etílica o mixta) de la hepatopatía previa. Conclusiones: la mutación C282Y no guarda relación con el riesgo de desarrollar CHC en sujetos sin hemocromatosis conocida. La posesión de la mutación H63D se asocia con un riesgo aumentado de desarrollar CHC independientemente de la etiología de la hepatopatía crónica subyacente.

Las alteraciones hematológicas son frecuentes en el lupus eritematoso sistémico (LES). La anemia es la más común y es de naturaleza multifactorial. El tipo más frecuente es la anemia de las enfermedades crónicas, que está en relación con las citoquinas de la inflamación; otros tipos son: la anemia ferropénica, anemia hemolítica autoinmune, aplasia pura de glóbulos rojos. La leucopenia está en relación a la neutropenia y/o linfopenia. La trombocitopenia es común, su causa es autoinmune y se asocia a disminución de la sobrevida. La presencia de anticuerpos antifosfolípidos (AAF) incrementa el riesgo de trombosis en el LES.