Demographic and clinical characterization of pediatric group patients with inborn errors of the immune system in a Colombian tertiary hospital

Introduction: In recent decades, there has been a growing increase in the diagnosis of patients with inborn errors of the immune system, formerly known as primary immunodeficiency dis-orders (PIDs). Timely diagnosis remains a challenge due to low clinical suspicion and poor edu-cation on the subject. It is estimated that between 70% and 90% of these pathologies remain underdiagnosed in our environment.Objective: The objective of this study is to characterize the demographic and clinical presen-tation of pediatric group patients with inborn errors of the immune system in a Colombian tertiary hospital.Methods: Retrospective descriptive study of 306 patients with a diagnosis of innate errors of the immune system who consulted the PID clinic between 2011 and 2018 in a high-complexity institution in Cali, Colombia.Results: Three-hundred and six patients were included. The median age was 4 years (IQR 2.3–7.7 years), and 59.5% of the patients were male. According to the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency classification for inborn errors of the immune system, the most common group was antibody deficiency in 74.8% (n=229), especially in the age group between 1 and 5 years. The least frequent in our pop-ulation was complement deficiency. Of the warning signs stipulated for these pathologies, the most frequent were the (1) need for intravenous antibiotics (32%), (2) difficulty growing (15.7%), (3) four or more episodes of ear infection (10.8%), and (4) abscesses in organs or cuta-neous abscesses (12.7%). No patient reported two or more episodes of pneumonia or sinusitis, and only 5.8% of the patients received a bone marrow transplant (AU)

EXOPLANET MODULATION OF STELLAR CORONAL RADIO EMISSION.

The search for exoplanets in the radio bands has been focused on detecting radio emissions produced by the interaction between magnetized planets and the stellar wind (auroral emission). Here we introduce a new tool, which is part of our MHD stellar corona model, to predict the ambient coronal radio emission and its modulations induced by a close planet. For simplicity, the present work assumes that the exoplanet is stationary in the frame rotating with the stellar rotation. We explore the radio flux modulations using a limited parameter space of idealized cases by changing the magnitude of the planetary field, its polarity, the planetary orbital separation, and the strength of the stellar field. We find that the modulations induced by the planet could be significant and observable in the case of hot Jupiter planets - above 100% modulation with respect to the ambient flux in the 10 - 100 MHz range in some cases, and 2-10% in the frequency bands above 250 MHz for some cases. Thus, our work indicates that radio signature of exoplanets might not be limited to low-frequency radio range. We find that the intensity modulations are sensitive to the planetary magnetic field polarity for short-orbit planets, and to the stellar magnetic field strength for all cases. The new radio tool, when applied to real systems, could provide predictions for the frequency range at which the modulations can be observed by current facilities.

Thiourea derivatives as chelating agents for bioconjugation of rhenium and technetium.

Potential tetradentate thiocarbamoylbenzamidine derivatives H4L have been synthesized from the corresponding benzimidoyl chlorides and triglycine. They are suitable chelating agents for the oxidotechnetium(v) and oxidorhenium(v) cores and form stable, neutral [MO(HL)] complexes with an equatorial SN3 coordination sphere and an additional, uncoordinated carboxylic group, which can be used for bioconjugation. Representatives of the rhenium and 99Tc products have been isolated and analyzed with spectroscopic methods and X-ray diffraction. Bioconjugates of these complexes with angiotensin-II have been synthesized and structurally characterized. Analogous 99mTc complexes have been produced and tested in vitro and in vivo. The experiments confirm a considerable stability for the [99mTc(HL)] product as well as for its bioconjugate and recommend this class of compounds for further bioconjugation studies towards clinical applications.

Long Duration of Ground Motion in the Paradigmatic Valley of Mexico.

Built-up on top of ancient lake deposits, Mexico City experiences some of the largest seismic site effects worldwide. Besides the extreme amplification of seismic waves, duration of intense ground motion from large subduction earthquakes exceeds three minutes in the lake-bed zone of the basin, where hundreds of buildings collapsed or were seriously damaged during the magnitude 8.0 Michoacán earthquake in 1985. Different mechanisms contribute to the long lasting motions, such as the regional dispersion and multiple-scattering of the incoming wavefield from the coast, more than 300 km away the city. By means of high performance computational modeling we show that, despite the highly dissipative basin deposits, seismic energy can propagate long distances in the deep structure of the valley, promoting also a large elongation of motion. Our simulations reveal that the seismic response of the basin is dominated by surface-waves overtones, and that this mechanism increases the duration of ground motion by more than 170% and 290% of the incoming wavefield duration at 0.5 and 0.3 Hz, respectively, which are two frequencies with the largest observed amplification. This conclusion contradicts what has been previously stated from observational and modeling investigations, where the basin itself has been discarded as a preponderant factor promoting long and devastating shaking in Mexico City.

Exploring child maltreatment and its relationship to alcohol and cannabis use in selected Latin American and Caribbean countries.

OBJECTIVES: Research from developed countries shows that child maltreatment increases the risk for substance use and problems. However, little evidence on this relationship is available from developing countries, and recognition of this relationship may have important implications for substance demand reduction strategies, including efforts to prevent and treat substance use and related problems. Latin America and the Caribbean is a rich and diverse region of the world with a large range of social and cultural influences. A working group constituted by the Inter-American Drug Abuse Control Commission and the Center for Addiction and Mental Health in June, 2010 identified research on this relationship as a priority area for a multinational research partnership. METHODS: This paper examines the association between self-reported child maltreatment and use in the past 12 months of alcohol and cannabis in 2294 university students in seven participating universities in six participating countries: Colombia, El Salvador, Jamaica, Nicaragua, Panama and Uruguay. The research also considers the possible impact of religiosity and minimal psychological distress as factors contributing to resiliency in these samples. RESULTS: The results showed that experience of maltreatment was associated with increased use of alcohol and cannabis. However, the effects differed depending on the type of maltreatment experienced. Higher levels of religiosity were consistently associated with lower levels of alcohol and cannabis use, but we found no evidence of an impact of minimal psychological distress on these measures. CONCLUSIONS: This preliminary study shows that the experience of maltreatment may increase the risk of alcohol and cannabis use among university students in Latin American and Caribbean countries, but that higher levels of religiosity may reduce that risk. More work to determine the nature and significance of these relationships is needed.

Multifocal supratentorial diffuse glioma in a young patient with Ollier disease.

Ollier disease is a rare disorder characterised by the development of multiple enchondromas in long bones. Here we present a 19-year-old man with Ollier disease who also developed three synchronous brain tumours. Craniotomy, biopsy and debulking was performed for one lesion followed by a period of observation, and 9 months later he underwent a second craniotomy and debulking for symptomatic progression. Histopathological examination revealed a diagnosis of multifocal diffuse glioma (World Health Organization grade II). This report highlights the increased incidence of primary brain tumours in patients with Ollier disease and identifies the importance of screening patients with Ollier disease for primary neoplasms.

Refined identification of Vibrio bacterial flora from Acanthasther planci based on biochemical profiling and analysis of housekeeping genes.

We used a polyphasic approach for precise identification of bacterial flora (Vibrionaceae) isolated from crown-of-thorns starfish (COTS) from Lizard Island (Great Barrier Reef, Australia) and Guam (U.S.A., Western Pacific Ocean). Previous 16S rRNA gene phylogenetic analysis was useful to allocate and identify isolates within the Photobacterium, Splendidus and Harveyi clades but failed in the identification of Vibrio harveyi-like isolates. Species of the V harveyi group have almost indistinguishable phenotypes and genotypes, and thus, identification by standard biochemical tests and 16S rRNA gene analysis is commonly inaccurate. Biochemical profiling and sequence analysis of additional topA and mreB housekeeping genes were carried out for definitive identification of 19 bacterial isolates recovered from sick and wild COTS. For 8 isolates, biochemical profiles and topA and mreB gene sequence alignments with the closest relatives (GenBank) confirmed previous 16S rRNA-based identification: V. fortis and Photobacterium eurosenbergii species (from wild COTS), and V natriegens (from diseased COTS). Further phylogenetic analysis based on topA and mreB concatenated sequences served to identify the remaining 11 V harveyi-like isolates: V. owensii and V. rotiferianus (from wild COTS), and V. owensii, V. rotiferianus, and V. harveyi (from diseased COTS). This study further confirms the reliability of topA-mreB gene sequence analysis for identification of these close species, and it reveals a wider distribution range of the potentially pathogenic V. harveyi group.

Injection of Acanthaster planci with thiosulfate-citrate-bile-sucrose agar (TCBS). I. Disease induction.

This is the first report of the successful induction of a transmissible disease in the coral-eating crown-of-thorns starfish Acanthaster planci (COTS). Injection of thiosulfate-citrate-bile-sucrose agar (TCBS) culture medium into COTS induced a disease characterized by discoloured and necrotic skin, ulcerations, loss of body turgor, accumulation of colourless mucus on many spines especially at their tip, and loss of spines. Blisters on the dorsal integument broke through the skin surface and resulted in large, open sores that exposed the internal organs. Oedema and reddened digestive tissues and destruction of connective fibers were common. Moreover, healthy COTS in contact with these infected animals also displayed signs of disease and died within 24 h. TCBS induced 100% mortality in injected starfish. There was no introduction of new pathogens into the marine environment. TCBS promoted the growth of COTS' naturally occurring Vibrionales to high densities with subsequent symbiont imbalance followed by disease and death.

A nomogram for predicting overall survival of women with endometrial cancer following primary therapy: toward improving individualized cancer care.

OBJECTIVES: Traditionally we have relied mainly on final FIGO stage to estimate overall oncologic outcome in endometrial cancer patients. However, it is well known that other patient factors may play equally important roles in outcome. Our objective was to develop a clinically useful nomogram in the hope of providing a more individualized and accurate estimation of overall survival (OS) following primary therapy. METHODS: Using a prospectively maintained endometrial cancer database, 1735 patients treated between 1993 and 2008 were analyzed. Characteristics known to predict OS were collected. For each patient, points were assigned to each of these 5 variables. A total score was calculated. The association between each predictor and the outcome was assessed by multivariable modeling. The corresponding 3-year OS probabilities were then determined from the nomogram. RESULTS: The median age was 62 years (range, 25-96). Final grade included: G1 (471), G2 (622), G3 (634), and missing (8). Stage included: IA (501), IB (590), IC (141), IIA (36), IIB (75), IIIA (116), IIIB (6), IIIC (135), IVA (7), and IVB (128). Histology included: adenocarcinoma (1376), carcinosarcoma (100), clear cell (62), and serous (197). Median follow-up for survivors was 29.2 months (0-162.2 months). Concordance probability estimator for the nomogram is 0.746+/-0.011. CONCLUSION: We developed a nomogram based on 5 easily available clinical characteristics to predict OS with a high concordance probability. This nomogram incorporates other individualized patient variables beyond FIGO stage to more accurately predict outcome. This new tool may be useful to clinicians in assessing patient risk when deciding on follow-up strategies.

Presentación atípica de tuberculosis peritoneal. Caso clínico diagnosticado por laparoscopia / No disponible

La sospecha clínica de tuberculosis peritoneal debe estar presenteen todo paciente con dolor abdominal de etiología desconocida;sobre todo si se acompaña de fiebre, ascitis y distensión abdominal.El acceso por vía laparoscópica a la cavidad abdominalde forma reglada contribuye de manera primordial al diagnósticotanto por la imagen macroscópica como para la toma de biopsia,que dará posteriormente la confirmación anatomopatológica ymicrobiológica. Ayudando a discriminar entre los posibles diagnósticosdiferenciales que acontecen con clínica similar. Otraspruebas diagnósticas analíticas deben ser tenidas en cuenta paraayudar tanto a la indicación de laparoscopia como de cara al diagnóstico,son tales como la ADA, gammagrafía con Galio-67 y Ca-125

The presence of peritoneal tuberculosis has to be clinically suspectedin all patients with abdominal pain of unknown etiology,particularly when it is accompanied by fever, ascites, and abdominaldistension. Access to the abdominal cavity using routine laparoscopyprovides essential information on the diagnosis, fromboth macroscopic images and biopsy sampling, which will laterprovide a pathological and microbiological confirmation. Thishelps discriminate between potential differential diagnoses thatmay include similar symptoms. Other laboratory tests have to beconsidered as diagnostic aids, as well as for the indication of laparoscopy,including ADA, and Gallium-67 or Ca-125 scans (AU)

[Atypical peritoneal tuberculosis. Use of laparoscopy in the diagnosis]. / Presentación atípica de tuberculosis peritoneal. Caso clínico diagnosticado por laparoscopia.

The presence of peritoneal tuberculosis has to be clinically suspected in all patients with abdominal pain of unknown etiology, particularly when it is accompanied by fever, ascites, and abdominal distension. Access to the abdominal cavity using routine laparoscopy provides essential information on the diagnosis, from both macroscopic images and biopsy sampling, which will later provide a pathological and microbiological confirmation. This helps discriminate between potential differential diagnoses that may include similar symptoms. Other laboratory tests have to be considered as diagnostic aids, as well as for the indication of laparoscopy, including ADA, and Gallium-67 or Ca-125 scans.

Antibacterial activity of ethanolic and aqueous extracts of Acacia aroma Gill. ex Hook et Arn.

The purpose of the present study was to investigate the antibacterial activity of seven ethanolic extracts and three aqueous extracts from various parts (leaves, stems and flowers) of A. aroma against 163 strains of antibiotic multi-resistant bacteria. The disc diffusion assay was performed to evaluate antibacterial activity of the A. aroma crude extracts, against several Gram-positive bacteria (E. faecalis, S. aureus, coagulase-negative stahylococci, S. pyogenes, S. agalactiae, S. aureus ATCC 29213, E. faecalis ATCC 29212) and Gram-negative bacteria (E. coli., K. pneumoniae, P. mirabilis, E. cloacae, S. marcescens, M morganii, A. baumannii, P. aeruginosa, S. maltophilia, E. coli ATCC 35218, P. aeruginosa ATCC 27853, E. coli ATCC 25922). All ethanolic extracts showed activity against gram-positive bacteria. Among all obtained extracts, only leaf and flower fluid extracts showed activity against Gram-negative bacteria. Based on this bioassay, leaf fluid extracts tended to be the most potent, followed by flower fluid extracts. Minimal inhibitory concentration (MIC) values of extracts and antibiotics were comparatively determined by agar and broth dilution methods. Both extracts were active against S. aureus, coagulase-negative stahylococci, E. faecalis and E. faecium and all tested Gram-negative bacteria with MIC values from 0.067 to 0.308 mg/ml. In this study the minimal bactericidal concentration (MBC) values were identical or twice as high than the corresponding MIC for leaf extracts and four or eight times higher than MIC values for flower extracts. This may indicate a bactericidal effect. Stored extracts have similar antibacterial activity as recently obtained extracts. The A. aroma extracts of leaves and flowers may be useful as antibacterial agents against Gram- negative and Gram-positive antibiotic multi-resistant microorganisms.

Formulation and conservation of a pharmaceutical form with leaf extracts from Acacia aroma Gill. ex Hook et Arn

Leaf fluid extracts of Acacia aroma GILL. ex Hook et Arn showed antibacterial activity against antibiotic multiresistant bacteria isolated from clinical samples, antioxidant and ant-inflammatory activities. Toxicological studies carried out on Artemia salina and Allium cepa attested none toxicity potential. The aim of this work was to elaborate a formulation of topical antibacterial hydrogel with Carbopol acrylic acid polymer containing an A. aroma fluid extract in order to compare with a hydrogel containing commercial antibiotic. The optimal extract concentration in this formulation was determined according to the values of minimal inhibitory concentration and minimal bactericidal concentration for Staphylococcus aureus, methicillin-resistant (F7) and Pseudomonas aeruginosa (F352). Physical, chemical, rheological and microbiological stability was observed at least during one year. The hydrogel containing Acacia leaves fluid extract shows remarkable antibacterial effect with a broadspectrum efficacy against Gram positive and Gram negative bacteria at low concentration.

Molecular dynamics simulations on the first two helices of Vpu from HIV-1.

Vpu is an 81 amino acid protein of HIV-1 with two phosphorylation sites. It consists of a short N-terminal end traversing the bilayer and a longer cytoplasmic part. The dual functional role of Vpu is attributed to these topological distinct regions of the protein. The first 52 amino acids of Vpu (HV1H2) have been simulated, which are thought to be embedded in a fully hydrated lipid bilayer and to consist of a transmembrane helix (helix-1) connected via a flexible linker region, including a Glu-Tyr-Arg (EYR) motif, with a second helix (helix-2) residing with its helix long axis on the bilayer surface. Repeated molecular dynamics simulations show that Glu-28 is involved in salt bridge formation with Lys-31 and Arg-34 establishing a kink between the two helices. Helix-2 remains in a helical conformation indicating its stability and function as a "peptide float," separating helix-1 from the rest of the protein. This leads to the conclusion that Vpu consists of three functional modules: helix-1, helix-2, and the remaining residues toward the C-terminal end.

Allergic mucin with and without fungus: a comparative clinicopathologic analysis.

CONTEXT: Allergic mucin, a lamellated collection of inspissated inflammatory debris, has been a hallmark of allergic fungal sinusitis. While its identification is a clue for pathologists to search for fungi, and directs clinicians toward specific therapy and follow-up, recent reports describe cases with allergic mucin but without concomitant fungus. The absence of such organisms in otherwise typical allergic mucin brings into question the role of fungi in allergic fungal sinusitis. OBJECTIVES: To study clinical and pathologic differences between patients with allergic mucin in surgical nasal resection specimens and to elucidate the role of fungus in allergic sinusitis. DESIGN: Patients with histologic evidence of allergic mucin, with and without fungus, were identified and retrieved from the surgical pathology files of a tertiary-care institution. The patients were separated into 2 groups for analysis, and their clinical and pathologic findings were reviewed and compared. SETTING: Tertiary-care institution. PATIENTS: All patients who underwent sinus mucosal resection between 1992 and 1998. RESULTS: Clinical presentation and radiographic findings were similar in both groups. Incidence, age, and gender distribution were similar to data reported previously. However, the amount of allergic mucin was much greater in the group with fungus than in the group without fungus, which to our knowledge is an unreported observation to date. CONCLUSION: The presence of allergic mucin is not unique to allergic fungal sinusitis, but rather is the result of a process that could have other etiologies. While perhaps not always causative to the disease, the fungus continues to fuel the process and is likely an entrapped bystander. Allergic fungal sinusitis is more appropriately termed allergic mucinous sinusitis or eosinophilic mucinous rhinosinusitis.

Scapular hibernoma fortuitously discovered on myocardial perfusion imaging through Tc-99m tetrofosmin.

A 49-year-old man was hospitalized for precordial pain. The result of a resting electrocardiograph was normal. Tc-99m tetrofosmin stress myocardial imaging was performed and uptake in the area of the left scapula was seen. The abnormality was caused by a subcutaneous tumor. Histologic examination revealed a hibernoma.

Mesenteric actinomycosis with retroperitoneal involvement.

Mesenteric or retroperitoneal actinomycosis is an extremely rare disease. The international databases have revealed only 10 cases affecting the mesenterium and another 52 cases affecting the retroperitoneum. We report a 78-year-old female who was admitted with complaints of abdominal pain. Laboratory examination revealed anemia and the clinical examination revealed an irregular mass in the abdomen. Ultrasound and computed tomography (CT) scans showed a solid mass in the mesenteric-retroperitoneal region. Biopsy of the nonresectable mass revealed the presence of chronic inflammation in the mesenteric area with Actinomyces colonies. The patient was treated with oral amoxicillin, 500 mg every 6 hours for 6 months. The symptoms disappeared, but the mesenteric-retroperitoneal mass remains, but smaller in size. Based on the review of the literature and the case reported here, we conclude that mesenteric-retroperitoneal actinomycosis is difficult to diagnose by means of noninvasive techniques as it can masquerade as a malignant process. An accurate diagnosis is always obtained in a histological or microbiological examination, often requiring surgical intervention. Treatment with penicillin has proven to be effective.

Utilidad clínica de la elastasa polimorfonuclear en las pancreatitis agudas / Clinical utility of polymorphonuclear elastase in acute pancreatitis

Introducción. La elastasa polimorfonuclear es una proteasa localizada en los lisosomas de los leucocitos polimorfonucleares que se libera como mecanismo de defensa para eliminar los productos de degradación tisular en el lugar de la inflamación. En este trabajo se evalúa la utilidad de la determinación de la elastasa como factor pronóstico en pacientes con pancreatitis aguda. Pacientes y método. Se realiza un estudio prospectivo sobre la utilidad de la medida de la elastasa en una serie de 31 pacientes con pancreatitis aguda. Se les efectuó, dentro de los primeros 3 días del ingreso hospitalario, la determinación de hemograma, bioquímica, elastasa polimorfonuclear y proteína C reactiva, además de la evaluación clínica -mediante criterios de Ranson- como grave y leve. Resultados. Se ha encontrado una serie de 7 pacientes con una elastasa media (ñ DE) de 301 ñ 277 µg/l y proteína C reactiva de 14,3 ñ 17,1 mg/dl, que se asocian a una evolución tórpida. En los otros 24 pacientes, la elastasa fue 109 ñ 115 µg/l, y proteína C reactiva de 4,84 ñ 5,87 mg/dl, presentando una evolución favorable. Conclusiones. Existen diferencias significativas entre los dos grupos en ambos parámetros. Tanto la elastasa polimorfonuclear como la proteína C reactiva, junto con otros datos clínicos y el recuento leucocitario, constituyen unos parámetros útiles para diferenciar las pancreatitis agudas graves de las leves (AU)

Tratamiento laparoscópico de la hernia de hiato y del reflujo gastresofágico / Laparoscopic treatment of hiatal hernia and gastroesophageal reflux

Introducción. El tratamiento laparoscópico de la enfermedad por reflujo gastroesofágico se acompaña de importantes ventajas clínicas, aunque existen algunos puntos controvertidos: una correcta indicación quirúrgica, el tipo de funduplicatura más apropiada en virtud de los estudios preoperatorios y el valor que tienen ciertos detalles técnicos. Pacientes y método. Hemos practicado una funduplicatura a 176 pacientes, con un rango de edad entre 22 y 78 años. La indicación de cirugía incluyó: intratabilidad médica, pacientes jóvenes y hernia paraesofágica. La sintomatología predominante fue: reflujo (93 por ciento), disfagia (38 por ciento), dolor torácico (18 por ciento) y síntomas respiratorios (4 por ciento). Nuestra serie incluye 27 casos (15 por ciento) de enfermedad por reflujo gastroesofágico sin hernia asociada, 119 (67 por ciento) de hernia de hiato axial, 14 (8 por ciento) de hernia de hiato paraesofágica y 16 (9 por ciento) de hernia de hiato mixta. A todos los pacientes se les practicó un estudio baritado gastroduodenal, endoscopia en 88 (50 por ciento), pH-metría, en 140 (89 por ciento) y manometría en 146 (92 por ciento). Resultados. Las técnicas utilizadas fueron: Nissen-Rosetti en 114 casos (65 por ciento), Toupet en 55 (31 por ciento) y Dor en 6 (3 por ciento). Se seccionaron los vasos cortos en 7 casos (4 por ciento). El índice de complicaciones intraoperatorias fue del 1,7 por ciento, la tasa de conversión del 1,7 por ciento y la tasa de reintervenciones del 1,1 por ciento. En todos los casos se controló la sintomatología de reflujo. El 60 por ciento de los pacientes no presentaron disfagia, el 29 por ciento, disfagia leve ( 4 semanas) y el 0,63 por ciento disfagia grave. Seis pacientes (3,41 por ciento) presentaron un síndrome de retención gaseosa. Conclusión. La cirugía antirreflujo por vía laparoscópica ofrece resultados similares a los de la cirugía abierta, con las ventajas añadidas de este tipo de abordaje. Estos resultados dependen de una correcta indicación y de la elección de una técnica quirúrgica adecuada e individualizada para cada paciente (AU)