Multidisciplinary analysis of a mummy from the War of the Pacific.

The War of the Pacific (1879-1884) was a big scale war between Chile against the alliance of Peru and Bolivia. One of the most important battles, the "Batalla del Campo de la Alianza" was situated in the desert near Tacna, Peru. The conditions of this environment favored the conservation of the dead soldiers after many years. Decades ago, the Natural History Museum of Concepción in Chile, received a naturally mummified individual of a probably Chilean soldier as a donation; its uncertain context was never studied nor confirmed. Considering this, our investigation analyzed this body under exploratory methods, ballistic analysis, archaeological contrast, 14C radiocarbon dating, ancient DNA, and isotopic analysis to reconstruct the biological profile of this mummy. The results indicated that the mummy belongs to an adult man between 33-39 years of age (> 1.50 m) and has a perimortem wound in the left flank of the abdomen. CT scan and X-rays revealed the presence of a bullet (Comblain II or Gras) hosted near the L2 vertebra. It is possible that the individual died of bleeding from a gunshot wound done by a long-distance firearm projectile from an inferior level, whose trajectory was from left to right, with slight inclination towards the top, and without a projectile exit. Other analyses confirmed the historical context and suggests the Chilean origin of the mummy. Despite the passage of time and other factors, it was possible to reconstruct the death of this individual thanks to technology and approaches from different disciplines.

Donor source and post-transplantation cyclophosphamide influence outcome in allogeneic stem cell transplantation for GATA2 deficiency.

GATA2 deficiency was described in 2011, and shortly thereafter allogeneic hematopoietic stem cell transplantation (HSCT) was shown to reverse the hematologic disease phenotype. However, there remain major unanswered questions regarding the type of conditioning regimen, type of donors, and graft-versus-host disease (GVHD) prophylaxis. We report 59 patients with GATA2 mutations undergoing HSCT at National Institutes of Health between 2013 and 2020. Primary endpoints were engraftment, reverse of the clinical phenotype, secondary endpoints were overall survival (OS), event-free survival (EFS), and the incidence of acute and chronic GVHD. The OS and EFS at 4 years were 85·1% and 82·1% respectively. Ninety-six percent of surviving patients had reversal of the hematologic disease phenotype by one-year post-transplant. Incidence of grade III-IV aGVHD in matched related donor (MRD) and matched unrelated donor recipients (URD) patients receiving Tacrolimus/Methotrexate for GVHD prophylaxis was 32%. In contrast, in the MRD and URD who received post-transplant cyclophosphamide (PT/Cy), no patient developed grade III-IV aGVHD. Six percent of haploidentical related donor (HRD) recipients developed grade III-IV aGVHD. In summary, a busulfan-based HSCT regimen in GATA2 deficiency reverses the hematologic disease phenotype, and the use of PT/Cy reduced the risk of both aGVHD and cGVHD.

Mutations in microRNA processing genes in Wilms tumors derepress the IGF2 regulator PLAG1.

Many childhood Wilms tumors are driven by mutations in the microRNA biogenesis machinery, but the mechanism by which these mutations drive tumorigenesis is unknown. Here we show that the transcription factor pleomorphic adenoma gene 1 (PLAG1) is a microRNA target gene that is overexpressed in Wilms tumors with mutations in microRNA processing genes. Wilms tumors can also overexpress PLAG1 through copy number alterations, and PLAG1 expression correlates with prognosis in Wilms tumors. PLAG1 overexpression accelerates growth of Wilms tumor cells in vitro and induces neoplastic growth in the developing mouse kidney in vivo. In both settings, PLAG1 transactivates insulin-like growth factor 2 (IGF2), a key Wilms tumor oncogene, and drives mammalian target of rapamycin complex 1 (mTORC1) signaling. These data link microRNA impairment to the PLAG1-IGF2 pathway, providing new insight into the manner in which common Wilms tumor mutations drive disease pathogenesis.

Prospective Study of Gastrointestinal Symptoms in School Children of South America.

OBJECTIVES: The aim of the study was to establish the prevalence of abdominal pain (AP) in school children in Pasto (Colombia) and determine the effect of AP on their daily activities; and compare the prevalence of AP and other gastrointestinal symptoms between school children from Pasto and Chicago. METHODS: Fourth- and fifth-grade students from a public school and a private school in Colombia were invited to participate in a prospective study using the same methods and questionnaires (Spanish version) as a previous study conducted in Chicago schools. Children completed weekly confidential surveys for 8 consecutive weeks. RESULTS: A total of 332 children participated in the study (40% girls, mean age 9.97 years, median 10, range 8-12 years): public school (288), private school (44). A total of 2425 surveys were analyzed. Out of 2656 possible weekly surveys (332 children × 8 weeks), 91.3% were completed. Overall weekly prevalence of gastrointestinal symptoms: AP (39%), nausea (29.5%), constipation (14%), diarrhea (10.5%), vomiting (9%). Children with AP reported interference with activities: gym (21.9%), school (17.3%), difficulty sleeping (13.7%), and social activities (12.6%). Out of all children, 8.4% sought medical attention for AP during the study period. CONCLUSIONS: Gastrointestinal symptoms are common in school-aged children in Colombia and interfere with both daily activities and school attendance. The prevalence of AP, diarrhea, and vomiting found in the present study was similar to published prevalence of American children using similar methods.

A strategy to improve treatment-related mortality and abandonment of therapy for childhood ALL in a developing country reveals the impact of treatment delays.

BACKGROUND: Treatment-related mortality and abandonment of therapy are major barriers to successful treatment of childhood acute lymphoblastic leukemia (ALL) in the developing world. PROCEDURE: A collaboration was undertaken between Instituto Nacional de Cancerologia (Bogota, Colombia), which serves a poor patient population in an upper-middle income country, and Dana-Farber/Boston Children's Cancer and Blood Disorders Center (Boston, USA). Several interventions aimed at reducing toxic deaths and abandonment were implemented, including a reduced-intensity treatment regimen and a psychosocial effort targeting abandonment. We performed a cohort study to assess impact. RESULTS: The Study Population comprised 99 children with ALL diagnosed between 2007 and 2010, and the Historic Cohort comprised 181 children treated prior to the study interventions (1995-2004). Significant improvements were achieved in the rate of deaths in complete remission (13% to 3%; P = 0.005), abandonment (32% to 9%; P < 0.001), and event-free survival with abandonment considered an event (47% to 65% at 2 years; P = 0.016). However, relapse rate did not improve. Medically unnecessary treatment delays were common, and landmark analysis revealed that initiating the PIII phase of therapy ≥4 weeks delayed predicted markedly inferior disease-free survival (P = 0.016). Conversely, patients who received therapy without excessive delays had outcomes approaching those achieved in high-income countries. CONCLUSIONS: Implementation of a twinning program was followed by reductions in abandonment and toxic deaths, but relapse rate did not improve. Inappropriate treatment delays were common and strongly predicted treatment failure. These findings highlight the importance of adherence to treatment schedule for effective therapy of ALL.

Psychosis and severe rhabdomyolysis associated with synthetic cannabinoid use: A case report.

BACKGROUND: Synthetic cannabinoid (SC) or "spice" refers to a variety of herbal/chemical mixtures, which mimic the effects of marijuana. They are generally marked as "herbal incense" and best known by the brand names of "K2," "spice," "aroma," "Mr. Nice Guy" and "dream." Little data are available on the psychopathological and physical effects of SC. CASE DESCRIPTION: We reported on a 23-year-old man without prior psychiatric history who developed acute psychosis and severe rhabdomyolysis (creatine phosphokinase [CPK]: 44,300 UI/L) associated with "Mr. Nice Guy" consumption. To our knowledge, this is the first case report of severe rhabdomyolysis associated with SC use in the U.S. CONCLUSIONS: Physicians should be aware of the possibility of new-onset psychotic symptoms and rhabdomyolysis in patients that use SC.

Construct validity of the pediatric Rome III criteria.

OBJECTIVES: Functional gastrointestinal disorders (FGIDs) are common. The diagnosis of FGIDs is based on the Rome criteria, a symptom-based diagnostic classification established by expert consensus. There is little evidence of validity for the pediatric Rome III criteria. The construct validity of the criteria, an overarching term that incorporates other forms of validity, has never been assessed. We assessed the construct validity of the Rome III criteria. METHODS: Children from 2 schools in Colombia completed the Questionnaire on Pediatric Gastrointestinal Symptoms at baseline and weekly questionnaires of somatic symptoms and disability for 8 weeks (presence and intensity of gastrointestinal symptoms, nongastrointestinal symptoms, impact on daily activities). A total of 255 children completed at least 6 weekly surveys (2041 surveys). RESULTS: At baseline, 27.8% children were diagnosed as having an FGID. Prevalence of nausea (Δ 7.8%, 95% confidence interval [CI] 4.46-11.14), constipation (Δ 4.39%, 95% CI 1.79-6.99), diarrhea (Δ 6.69%, 95% CI 3.25-10.13), headache (Δ 7.4%, 95% CI 3.51-11.09), chest pain (Δ 9.04%, 95% CI 5.20-12.88), and limb pain (Δ 4.07%, 95% CI 1.76-6.37) and intensity of nausea (Δ 0.23, 95% CI 0.127-0.333), diarrhea (Δ 0.30, 95% CI 0.211-0.389), abdominal pain (Δ 0.18, 95% CI 0.069-0.291), headache (Δ 0.17, 95% CI 0.091-0.249), and limb pain (Δ 0.30, 95% CI 0.084-0.516) were higher in children with FGIDs (P < 0.001). Children with FGIDs had greater interference with daily activities (P < 0.001). CONCLUSIONS: Children with a Rome III diagnosis had significantly more gastrointestinal and nongastrointestinal complaints, and greater intensity of symptoms and disability than children without an FGID diagnosis. The study suggests that the Rome III pediatric criteria have adequate construct validity.

MRI guided iron assessment and oral chelator use improve iron status in thalassemia major patients.

Oral iron chelators and magnetic resonance imaging (MRI) assessment of heart and liver iron burden have become widely available since the mid 2000s, allowing for improved patient compliance with chelation and noninvasive monitoring of iron levels for titration of therapy. We evaluated the impact of these changes in our center for patients with thalassemia major and transfusional iron overload. This single center, retrospective observational study covered the period from 2005 through 2012. Liver iron content (LIC) was estimated both by a T2* method and by R2 (Ferriscan® ) technique. Cardiac iron was assessed as cT2*. Forty-two patients (55% male) with transfused thalassemia and at least two MRIs were included (median age at first MRI, 17.5 y). Over a mean follow-up period of 5.2 ± 1.9 y, 190 MRIs were performed (median 4.5 per patient). Comparing baseline to last MRI, 63% of patients remained within target ranges for cT2* and LIC, and 13% improved from high values to the target range. Both the median LIC and cT2* (cR2* = 1000/cT2*) status improved over time: LIC 7.3 to 4.5 mg/g dry weight, P = 0.0004; cR2* 33.4 to 28.3 Hz, P = 0.01. Individual responses varied widely. Two patients died of heart failure during the study period. Annual MRI iron assessments and availability of oral chelators both facilitate changes in chelation dose and strategies to optimize care.

Prevalence of functional gastrointestinal disorders in Colombian school children.

OBJECTIVES: To determine prevalence for functional gastrointestinal disorders (FGIDs) in Colombian school children using the Questionnaire on Pediatric Gastrointestinal Symptoms-Rome III Version (QPGS-III) and to determine possible risk factors. STUDY DESIGN: The QPGS-III was translated into Spanish then reverse translated by a team of bilingual physicians. Focus groups of Colombian children were conducted to assure understanding of the Spanish version. Children at 1 public school and 2 private schools in Pasto, Colombia were invited to participate in a prevalence study using the translated questionnaire. RESULTS: A total of 373 children (95 private school, 278 public school), with mean age 9.9 years completed the QPGS-III. Twenty-nine percent of children were diagnosed with FGIDs. FGIDs were more common in females (OR, 1.63; 95% CI, 1.04-2.56). Functional constipation (14%) was the most common FGID. Irritable bowel syndrome was the most common abdominal pain-related FGID (5.4%). Abdominal migraine (1%) and cyclic vomiting syndrome (0.3%) were the least common FGIDs. CONCLUSION: FGIDs are common in Colombian school children.

Abdominal pain and functional gastrointestinal disorders in children with celiac disease.

OBJECTIVE: To assess whether patients with celiac disease (CD) are more likely than controls to develop abdominal pain (AP) and AP-associated functional gastrointestinal disorders (FGID) in long-term follow-up. STUDY DESIGN: In a retrospective study, data on children (3-22 years old) with CD diagnosed between 2000 and 2010 were obtained. Parents were contacted by telephone at least 6 months after the diagnosis of CD and invited to participate in the study. Consenting parents completed: (1) a telephone questionnaire on the presence of gastrointestinal symptoms; and (2) the parent report version of the Questionnaire on Pediatric Gastrointestinal Symptoms-Rome III for cases and selected controls. RESULTS: Forty-nine cases (mean 11.3 years, 20 male participants) and 48 controls (mean 11.1 years, 24 male participants) were enrolled. Twelve children in the CD group (24.5%) and 7 children in the control group (14.6%) had AP at the time of the study (P = .3). Nine children in the CD group (18.3%) and 4 children in the control group (8.3%) met criteria for an AP-associated FGID according to the Questionnaire on Pediatric Gastrointestinal Symptoms-Rome III (P = .23). CONCLUSION: It was found that children with CD and controls have a similar risk of AP and AP-FGIDs. Methodologic limitations prevent generalization of results, but large prospective studies should confirm the findings.

Parental report of abdominal pain and abdominal pain-related functional gastrointestinal disorders from a community survey.

BACKGROUND AND AIMS: Functional gastrointestinal disorders (FGIDs) are common in children. Abdominal pain (AP) is the most common gastrointestinal (GI) symptom in children. The severity of AP drives medical consultations and quality of life in adult patients with irritable bowel syndrome (IBS). Thirty-eight percent of 8- to 15-year-old schoolchildren report AP weekly with 24% of those children reporting persistence of AP >8 weeks. Despite the high prevalence of AP, only 2% of school children seek medical attention for AP. Lack of parental knowledge on their child's symptoms may constitute one of the factors affecting the low ratio of consultation in children reporting AP. The aim was to assess parental reports of AP symptoms in a population of healthy community children. METHODS: Data of 5 studies with identical methodology to assess GI symptoms in children with celiac disease (CD), cow's milk allergy (CMA), pyloric stenosis (PS), Henoch-Schönlein purpura (HSP), and stem cell transplant (SC) and their healthy siblings were reviewed: a phone questionnaire on GI symptoms and Pediatric Gastrointestinal Symptoms Rome III version questionnaire (QPGS-RIII). Inclusion criteria were healthy children 4 to 18 years of age with a sibling previously diagnosed with CD, CMA, PS, HSP, or SC. RESULTS: Data on 246 healthy children, mean age (9.8 years, range 3-24, 112 girls) were obtained. Parents reported presence of AP in the last 8 weeks before the telephone contact in 20 (8.1%) children (age range 4-18 years, 11 girls). There was no significant difference in AP prevalence between boys and girls (P = 0.64). Six children (2.4%) met QPGS-RIII diagnostic criteria for FGIDs: 3 functional abdominal pain (FAP) and 3 IBS. CONCLUSIONS: AP was common in community children. FAP was the most common FGID among healthy community children. The prevalence of AP by parental report is lower than the previously published prevalence of AP reported by children. Lack of awareness of children's symptoms may play a role in the low ratio of consultation for AP in symptomatic children. Future prospective studies should confirm our findings and investigate the factors influencing the medical consultation decision including parental awareness of children's symptoms.

Survival to leukemia and lymphomas in children at a University Hospital in Cali, Colombia.

INTRODUCTION: Leukemia and lymphomas are the 2 most frequent malignancies among children in Cali, Colombia, although survival information for these malignancies remains limited in both Cali and throughout all of Colombia. OBJECTIVE: To estimate the 5-year survival rate in children diagnosed with leukemia and lymphomas in the University Hospital of Valle, at Cali, Colombia. METHODS: Three hundred and twenty-four patients younger than 15 years of age were included, diagnosed with either leukemia or lymphomas from 1998 to 2006. Active follow-up was conducted by clinical records reviewing and phone contacting. The cumulative survival rate was estimated to be from 1 to 5 years from diagnosis using the actuarial method. The Cox regression model was used to determine some of the factors associated with the prognosis. RESULTS: Of all cases, 61.8% were male patients, 75.3% corresponded to leukemia, and the rest to lymphomas. The global cumulated survival rate at 1 and 5 years were 71% and 50%, respectively. The risk of death from lymphomas was lower compared with leukemia, hazard ratio=0.36 (P<0.01). The highest cumulated survival rate was found in the group 5 to 9 years old (61%), followed by the group 0 to 4 years old (48%) and the group 10 to 14 years old (41%), all results reaching statistical significance (P<0.01), and showing lower survival rates than the data from international literature. CONCLUSIONS: The survival rates for leukemia and lymphomas in Cali are lower compared with the data of developed countries, suggesting that there are deficiencies in early diagnosis and in access to medication and opportune treatment.

Conocimientos sobre alimentación durante el primer año de vida en médicos generales de Cali, Colombia / Knowledge of food during the first year of life in general practitioners from Cali, Colombia

Materiales y métodos: Estudio observacional descriptivo de corte transversal. N = 78 MD que laboraban en Instituciones de Salud de Cali, Colombia. La encuesta incluyó datos de identificación, preguntas sobre conocimientos en alimentación normal y recomendaciones alimentarias. Base de datos enSPSS. Descripción con frecuencias, promedios, desviación estándar y proporciones y análisis bivariado utilizando Chi2 y t de student. Resultados: 82.1% recomienda LM exclusiva; 85.9% suspende LM por infecciones maternas; 38.5% sabe que la LM previene enfermedades crónicas; 12.8% sugiere dieta de eliminación en madre alérgica; 33.3% recomienda fórmula infantil; 98.7% no recomienda leche de vaca (LV) antes del año de edad. 83.3% inicia complementaria en > 6 meses: 57.7% indica frutas, 35.9% cereales, 2.6% carnes y huevo; 73.1% prefiere 1 alimento por vez; el 56.7% ensaya cada 3 a 5 días alimentos nuevos; 73.1% cambia consistencia del alimento en > 6 meses; en > 6 meses 73.1% inicia carne, 15.4% pescado, 69.2% leguminosas y 73.1% tubérculos; 78.3% retira alimentos alergénicos en niños alérgicos. 70.5% no recomienda vitaminas ni el 67.9% suplementos nutricionales. 65.4% adquieren sus conocimientos de sus profesores. No diferencias significativas en cuanto a conocimientos previos, ejercicio profesional, género; pero sí en MD solteros, sin hijos, con antecedentes de alergenicidad, MD femeninas y LM y MD con 30 y 35 años de edad. Conclusión: El 61.5% de los MD poseen conocimientos insuficientes sobre alimentación normal durante el primer año de vida, entre lo que se destaca positivamente que la LVdebe indicarse en > 1 año de edad y negativamente sobre dieta de eliminación en la madre alérgica.

Materials and methods: Cross sectional observational study. N = 78 GP who worked in health institutions in Cali, Colombia. The survey included identification data, questions about knowledge in nutrition and normal dietary recommendations. SPSS Database. Description frequencies, averages, standard deviations and proportions and bivariate analysis using student t and Chi2. Results: 82.1% recommended exclusive BF, 85.9% suspending BF by maternal infections, 38.5% know that the BF prevent chronic diseases, 12.8%suggests elimination diet in a mother allergic, 33.3% recommended infant formula, 98.7% do not recommend cow's milk (CM) before one year of age. 83.3% starts complementary foods in > 6 months: 57.7% fruits, 35.9% cereals, 2.6% meat and eggs, 73.1% prefer one food at a time, 56.7% tested every 3 to 5 days new foods, 73.1% changes the food consistency in > 6 months and 73.1% starts meat in > 6 months, 15.4% fish, 69.2% legumes and 73.1% tubers; 78.3% removes allergens in allergic children. 70.5% not recommended vitamins and 67.9% nutritional supplements. 65.4% acquire their knowledge from their teachers. No significant differences in terms of background, occupation, gender, but yes in GP unmarried, childless, with a history of allergenicity, and female GP and BF and GP with 30 and 35 years of age. Conclusion: 61.5% GP have enough knowledge about normal feeding during the first year of life, between what stands out positively that the BF should be indicated by > 1 year old and negatively elimination diet in the mother allergic.