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Nevin Manimala Statistics

Characterization of a cohort of pediatric patients with Congenital Adrenal Hyperplasia

Andes Pediatr. 2022 Aug;93(4):511-519. doi: 10.32641/andespediatr.v93i4.4003.

ABSTRACT

Congenital adrenal hyperplasia (CAH) is the most common adrenal disorder in childhood. Objecti ve: To describe the clinical and laboratory characteristics of pediatric patients with CAH and perform an exploratory analysis comparing some clinical and laboratory variables according to the types of CAH.

PATIENTS AND METHOD: Observational descriptive longitudinal study. Medical records from the pediatric endocrinology outpatients from four institutions in Medellín, Colombia were reviewed. Sociodemographic, clinical (type of CAH, salt-wasting crisis, associated endocrinopathies), labora tory (17-hydroxyprogesterone, testosterone, dehydroepiandrosterone sulfate, androstenedione, cor tisol, and adrenocorticotropic hormone) variables were analyzed. A descriptive statistical analysis was carried out.

RESULTS: 132 patients (65% female) were included. The median age at diagnosis was 2 months, 44.7% neonatal diagnosis. Seventy-nine children with classical salt-wasting CAH, 31 with simple virilizing, and 22 with non-classical form were documented. Median 17-OHP at diagnosis was 4820 ng/dl. Sexual differentiation disorder was presented in 47% of patients and 48% presented with adrenal crisis (AC) at diagnosis; the median age of the first AC was 15 days. Ninety-three patients required fludrocortisone and 32 patients presented AC after diagnosis and treatment. Median height/ age (last appointment): -0.49 SD, difference between bone and chronological age: 26 months. More than 60% of patients had elevated androstenedione and/or testosterone at the last appointment.

CONCLUSIONS: Sociodemographic and clinical characteristics are similar to those reported in the literature. In 48% of patients, AC was the initial manifestation, making neonatal screening important, as it would allow an early diagnosis. We found virilization in 71% of women in our study. A CAH should be suspected in a newborn with different genitalia.

PMID:37906849 | DOI:10.32641/andespediatr.v93i4.4003

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Sickle cell disease diagnosis over a decade in a pediatric hematology unit

Andes Pediatr. 2022 Aug;93(4):504-510. doi: 10.32641/andespediatr.v93i4.3963.

ABSTRACT

Sickle cell disease (SCD) is an autosomal recessive hemoglobinopathy. The prevalence of SCD can change especially by migrations.

OBJECTIVE: To describe the characteristics of patients with SCD at diagnosis, in a referral hospital over a decade.

PATIENTS AND METHOD: Retrospective study of the cli nical and laboratory characteristics of children under 15 years of age with SCD, diagnosed in the Onco-Hematology Service of the Hospital Dr. Roberto del Rio, Santiago, Chile, between April 2008 and March 2018. Sex, age, nationality, symptoms, blood count characteristics, and hemoglobin elec trophoresis results were evaluated by descriptive statistical analysis.

RESULTS: Sixteen patients were included, 2 were healthy carriers so were excluded from the analysis. Of the 14 analyzed, the diagnosis was made before 2015 in 2 patients. Twelve were male, 9 were Chilean, 13 had foreign parents. Eight were less than 2 years old and 12 were symptomatic. The most frequent symptoms were limb pain and anemia. Median hemoglobin was 8.2 g/dL (6.2-12.3), in 11/14 sickle cells were observed, in 4 by metabisulfite test. In 13/14, hemoglobin electrophoresis was performed, median hemoglobin S 70.2% (28.2-87.1) and hemoglobin F 18.7% (0-32.3). Only one patient had a genetic study. Thirteen patients were still in follow-up, 84.6% of them received folic acid and amoxicillin, 53.8% required transfusions, and 69.2% started hydroxyurea.

CONCLUSION: SCD has increased in Chile; therefore, a high degree of suspicion is required. The diagnosis, treatment, and follow-up of this pathology should be improved at the local level.

PMID:37906848 | DOI:10.32641/andespediatr.v93i4.3963

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Association between the diabetic foot amputation index and metabolic compensation in diabetes mellitus

Rev Med Chil. 2022 Jul;150(7):912-918. doi: 10.4067/s0034-98872022000700912.

ABSTRACT

BACKGROUND: Diabetic foot amputation is a public health challenge due to the increasing prevalence of type 2 diabetes mellitus (T2D). Although there are many health indicators aimed at the management and control of T2D and its complications, amputations persist.

AIM: To evaluate the association between diabetic foot amputation index and indicators of care and management of T2D in primary care centers of the eastern section of Santiago, Chile.

MATERIAL AND METHODS: We conducted a mixed ecological study and included information from the Monthly Statistical report of different public health centers from 2014 to 2018. We also analyzed the hospital discharge records from an individual tertiary public health center. The annual index for diabetic foot amputation per 100,000 diabetic patients was used as a response variable. The diabetic compensation percentage was calculated as the proportion of adults with a glycosylated hemoglobin below 7% or the proportion of older people with a value below 8%. The diabetic decompensation percentage was calculated as the proportion of people with a glycosylated hemoglobin over 9%.

RESULTS: A high variability in demographic and management indicators was observed between communes and centers in the study period. Bivariate analysis showed a significant correlation between the amputation index, decompensation, and insulin use. In a regression analysis, the amputation index was significantly associated with the diabetic compensation percentage (β = -3.5; p < 0.05) and a high decompensation percentage (β = 12.3; p < 0.005).

CONCLUSIONS: The diabetic foot amputation index was associated with diabetic compensation and decompensation indicators.

PMID:37906825 | DOI:10.4067/s0034-98872022000700912

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Analysis of pre-ablative and preoperative thyroglobulin in differentiated thyroid cancer

Rev Med Chil. 2022 Jul;150(7):855-860. doi: 10.4067/s0034-98872022000700855.

ABSTRACT

BACKGROUND: The measurement of plasma thyroglobulin (Tg) is widely used in the monitoring of differentiated thyroid cancer (CDT). In recent years, its value as a prognostic marker prior to ablation with radioiodine has increased, demonstrating its high negative predictive value. Recent studies indicate that a wide variety of factors could potentially influence pre-ablative Tg values, including residual tumor burden and stimulation modality.

AIM: To relate the value of pre-ablative Tg with the amount of preoperative disease burden, lymph node metastases, treatment, and presence of residual disease.

MATERIAL AND METHODS: Retrospective observational study of 70 patients with CDT treated between 2012 and 2018. The amount of disease burden was defined as the sum of largest diameter of individual tumors in each patient, and as the individually largest tumor per patient and number of metastatic lymph nodes.

RESULTS: A smaller tumor size and absence of remnant tissue was associated with lower Tg values, although the association was not always significant. Furthermore, no significant difference was found between Tg levels measured within or more than 14 days after the surgical procedure. Thus, an early measurement of pTg after surgery would allow an initial therapeutic decision making.

CONCLUSIONS: A statistical association between pre-ablative Tg levels and the amount of preoperative tumor tissue burden was found in some subgroups of patients.

PMID:37906818 | DOI:10.4067/s0034-98872022000700855

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Search for mutations in patients with Philadelphia negative myeloproliferative neoplasms in a public hospital in Chile

Rev Med Chil. 2022 Jul;150(7):849-854. doi: 10.4067/s0034-98872022000700849.

ABSTRACT

BACKGROUND: Philadelphia negative myeloproliferative neoplasms (Ph-MPN) are clonal disorders whose pathogenesis has been elucidated in recent years, creating diagnostic and prognostic algorithms.

AIM: To study JAK2, CALR y MPL gene mutations in patients with Ph-MPN.

MATERIALS AND METHODS: Descriptive cross-sectional observational study of patients with MPN (2015-2019), reviewing clinical, demographic and laboratory data. JAK2, CALR and MPL gene mutations were analyzed by RT-PCR.

RESULTS: We studied 72 patients. Fifty percent had essential thrombocythemia (ET), 26.4% had polycythemia vera (PV) and 23.6% had primary myelofibrosis (PM). Bone marrow biopsy was available in 76.5%. At diagnosis, the mean age was 65.5 years and 61% were symptomatic. A thrombotic event was the most frequent problem in 20% and 25% had splenomegaly. There were statistically significant differences in hematological parameters between the different MPNs. JAK2 V617F mutation was detected in 61.1%. Only 19 JAK2 V617F negative patients were available for CALR and MPL mutation studies, identifying 10 triple negative cases. Kaplan Meier curves showed a median survival of 88 months, being similar in the three MPNs. Causes of death in 20 patients were thrombotic complications in 30%, disease progression in 25%, infection in 20%, other neoplasms in 15% and other causes in 10%.

CONCLUSIONS: The presentation and frequency of JAK2 V617F, CALR and MPL mutations in our cohort was similar to those reported in other studies for ET and PM. JAK2 V617F mutation was lower for PV. No significant differences between the three MPNs were observed for overall survival. We could not assess the prognostic value of the mutations.

PMID:37906817 | DOI:10.4067/s0034-98872022000700849

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Calmodulin-Targeting Molecules from Ageratina grandifolia

J Nat Prod. 2023 Oct 31. doi: 10.1021/acs.jnatprod.3c00794. Online ahead of print.

ABSTRACT

Four new natural chemical entities, including 2-hydroxy-α-truxillic acid (2), (3R,4S)-2,2-dimethyl-3-hydroxy-4-(1-angeloyloxy)-6-acetyl-7-methoxychromane (3), N-tricosanoyltyramine (4), and grandifolamide (5), were isolated along with 11 known compounds (1, 615) from the aerial parts of Ageratina grandifolia. The chemical structures were elucidated using chemical derivatization and HR-MS, NMR, and DFT-calculated chemical shifts, combined with DP4+ statistical analysis. It was found that 2 decomposed into its biogenetic precursor, o-coumaric acid, upon standing at room temperature for a few weeks. 3,5-Diprenyl-4-hydroxyacetophenone (8), O-methylencecalinol (10), encecalin (11), and encecalinol (12) bound to calmodulin (CaM) with higher affinity than chlorpromazine, a well-known CaM inhibitor. Molecular dynamics studies revealed that the complexes of these compounds with CaM remained stable during the simulation. Altogether these results revealed the therapeutic and research tool potential of compounds 8, 10, 11, and 12.

PMID:37906816 | DOI:10.1021/acs.jnatprod.3c00794

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Sensor-Augmented Pump Therapy: description of pediatric patients with Type 1 Diabetes Mellitus (T1D) and initial metabolic outcomes

Andes Pediatr. 2022 Dec;93(6):860-867. doi: 10.32641/andespediatr.v93i6.3923.

ABSTRACT

The insulin microinfuser with integrated system (SAPT) for patients with type 1 Diabetes Mellitus (T1D) is included in the national financial protection system for high-cost treatments.

OBJECTIVE: To describe the initial and first-year metabolic outcomes and epidemiological and nutritional characteristics of T1D pediatric patients treated with SAPT.

PATIENTS AND METHOD: Retrospective, descriptive and analytical study of clinical records from 2017 to 2019, of 12 patients with T1D users of SAPT, attended in a referral hospital.

VARIABLES: age at program entry, time of evolution of the disease, type of insulin treatment and type of glucose monitoring (capillary: sample or Continuous Glucose Monitoring [CGM]) at program entry, cause of application to the program, nutritional status, rural or urban origin, educational level of the main guardian, HbA1c at application and in the last month of each quarter after SAPT installation, over a 12-month period. HbA1c analysis was venous sample by High-Performance Liquid Chromatography and follow-up was capillary sample by Latex Particle Agglutination Inhibition.

RESULTS: The median variables at 12 months of treatment were Total Daily Dose (TDD) 0.74, %Basal (%B) 49%, Time In Range (TIR) 39%, Time Below Range (TBR) 1%, and HbA1c 7.7%. The sensor usage time was met in all cases and only half of them achieved a correct execution of hyperglycemia and hypoglycemia treatment. Inadvertent severe hypoglycemia was the main cause of application to the program.

CONCLUSION: TDD and %B increased, approaching physiological requirement, although without statistical significance, which could be attributed to the administra tion of adequate insulin with lower risk of hypoglycemia due to predictive suspension and CGM. TIR presented a favorable increase, although not significant, nor reaching the target range, attributable to the short observation time, difficulties in understanding and execution of our patients, and the learning process of the treating clinical team. SAPT was effective in hypoglycemia management and effective in improving HbA1c.

PMID:37906803 | DOI:10.32641/andespediatr.v93i6.3923

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Monitoring of anticoagulant treatment with Unfractionated Heparin in pediatrics

Andes Pediatr. 2022 Dec;93(6):826-831. doi: 10.32641/andespediatr.v93i6.4271.

ABSTRACT

Unfractionated heparin (UFH) is the most widely used anticoagulant in hospitalized patients. The therapeutic range (TR) was defined in adults according to the prolongation of the activated Partial Thromboplastin Time (aPTT). However, the recommendation is to maintain a therapeutic range with anti-factor Xa assay (antiFXa). As this technique is more complex to perform and less available, it is recommended to make local correlation curves of aPTT with antiFXa.

OBJECTIVE: to determine the correlation between the values of aPTT and antiFXa in patients treated with UFH.

PATIENTS AND METHOD: 52 patients between 2 days to 14 years of age hospitalized in the Pediatric Critical Patient Unit were recruited. They received treatment with UFH in continuous infusion for at least 24 hours. aPTT and antiFXa tests were performed according to the moment of anticoagulation. To evaluate the concordance of the levels of aPTT with those of antiFXa, the Kappa statistical coefficient of Landis and Koch was used.

RESULTS: 105 samples were collected from 52 patients. The overall concordance was 0.452 (moderate correlation). In patients aged < 1 month (n = 40), a considerable correlation was evident (r = 0.617); in those from 1 month to < 6 months (n = 18) and 6 months – < 12 months with aPTT < 120 seconds (n = 11), also showed a considerable correlation (r = 0.636 and 0.615, respec tively), while in those aged > 12 months (n = 37) with aPTT < 120 seconds, a moderate correlation was evident (r = 0.454).

CONCLUSION: In our population, there is a moderate correlation between the values of aPTT and antiFXa.

PMID:37906799 | DOI:10.32641/andespediatr.v93i6.4271

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Cardiology compromise and inflammatory markers in children with Multisystemic Inflammatory Syndrome related to COVID-19 infection

Andes Pediatr. 2022 Dec;93(6):807-814. doi: 10.32641/andespediatr.v93i6.3807.

ABSTRACT

Coronavirus 2 (SARS-CoV-2) infection has spread rapidly. In pediatrics, a condition similar to shock is described named multisystem inflammatory syndrome in children (MIS-C) or pediatric inflammatory multisystem syndrome temporally associated with SARS-CoV-2 (PIMS-TS). The mechanisms of cardiological involvement are not clear.

OBJECTIVE: To describe cardiological in volvement and inflammatory markers in hospitalized patients with MIS-C in a tertiary hospital.

PATIENTS AND METHOD: Observational, retrospective study in children under 15 years of age with MIS-C. Demographic, clinical, and laboratory variables were collected from an electronic plat form, including troponin, B-type natriuretic peptide (proBNP), ultrasound, and electrocardio gram. Patients with / without cardiological involvement (CCC / SCC) were compared. GraphPad QuickCalcs© 2018 Software was used for statistical analysis, considering p < 0.05.

RESULTS: Thir teen patients diagnosed with MIS-C, 9 males, median age 9.5 years. All presented with fever and abdominal pain, adding one or more of the following symptoms: vomiting, exanthema, diarrhea, altered mucous membranes and/or edema. Five patients had hemodynamic compromise, 9/13 were categorized as CCC. Troponins were elevated 4.1 times in CCC (p < 0.05), median ProBNP CCC 6940 pg/ml vs 921 pg/ml in SCC (p < 0.05), median Ferritin CCC 482 vs 154 ng/ml in SCC (p < 0.01), platelets CCC 106,000 vs SCC 207,000/mm3 (p < 0.05). Echocardiogram showed pe ricardial effusion (N = 6), mild systolic dysfunction (N = 4), moderate dysfunction (N = 1) and coronary alterations (N = 3). In the ECG, 3 patients presented transient repolarization disturbance and 1 first-degree atrioventricular block. None required support with extracorporeal membrane oxygenation, with no deaths.

CONCLUSION: cardiological involvement in hospitalized children with MIS-C is frequent. Our series showed nonspecific and transitory symptoms, and hemodynamic compromise which responded early to medical treatment, with a favorable evolution. The markers in CCC patients were troponin, ProBNP, ferritin, and thrombocytopenia. The most frequent ul trasound finding was pericardial effusion. The importance of both clinical and laboratory cardio logical evaluation in these patients is evident.

PMID:37906797 | DOI:10.32641/andespediatr.v93i6.3807

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Ten-year survival after off-pump coronary artery bypass grafting compared with traditional bypass grafting

Rev Med Chil. 2023 Feb;151(1):32-41. doi: 10.4067/s0034-98872023000100032.

ABSTRACT

BACKGROUND: Long-term outcomes of Off-Pump Coronary Artery Bypass Grafting (OPCAB) as an alternative to the traditional Coronary Artery Bypass Grafting (CABG) technique with cardiopulmonary bypass (CPB) are not well defined.

AIM: To compare 10-year survival of isolated OPCAB versus CABG with CPB.

MATERIAL AND METHODS: Analysis of information obtained from databases, clinical records and surgical protocols of patients treated with isolated CABG between January 2006 and November 2008 at a Regional Hospital. Of 658 isolated CABG, 192 (29.2%) were OPCAB and 466 (79.9%) CPB. Propensity Score Matching (PSM) was performed to compare both groups. After PSM, two groups of 192 cases were obtained. Mortality data was obtained from the Chilean public identification service. Ten-year survival was calculated and compared with Kaplan-Meier and log-rank methods.

RESULTS: Follow-up data was obtained in all cases. No statistically significant differences were found when comparing 10-year survival between OPCAB versus CPB (78.6% and 80.2% respectively, p 0.720). There was also no statistical difference in cardiovascular death free survival (90.1% with CPB versus 89.1% OPCAB, p 0.737). Survival was comparable when analyzing subgroups with diabetes mellitus, left ventricular dysfunction or chronic kidney disease, among others.

CONCLUSIONS: In our series, OPBAB has a comparable 10-year survival with CABG with CPB.

PMID:37906744 | DOI:10.4067/s0034-98872023000100032