Rheumatic Care in Under-Resourced Areas Using the Extension for Community Healthcare Outcomes Model.

OBJECTIVE: To demonstrate the effectiveness of the Extension for Community Healthcare Outcomes (Project ECHO) in educating primary care clinicians (PCCs) to provide best practice rheumatic care to patients in under-resourced communities in New Mexico. METHODS: Attendee data for weekly teleECHO sessions, lectures, grand rounds, and mini-residency trainings were evaluated from June 2006 to June 2014. Participant feedback was evaluated from January 2009 to December 2014, when the program was approved for continuing medical education (CME) credits. Retrospective review of diagnoses associated with case presentations was conducted from June 2006 to June 2014 to evaluate the types of cases presented. A focus group was conducted with a convenience sample of 8 New Mexico PCCs who participated in ECHO Rheumatology (ECHO Rheum) for 1 year or longer. RESULTS: Over the course of 9 years, ECHO Rheum educated 2,230 clinicians, consisting primarily of physicians (53%) and nurse practitioners (22%). A total of 1,958 CME credits were awarded to those who participated. There were 1,173 cases presented; 85% of the cases reflected the 3 most common diagnoses: rheumatoid arthritis (n = 715), fibromyalgia (n = 241), and systemic lupus erythematosus (n = 54). In addition, ECHO Rheum conducted 15 two-day mini-residencies involving 30 PCCs; 21 of these clinicians subsequently completed the American College of Rheumatology online certification. CONCLUSION: Results from this study demonstrate that participation in ECHO Rheum provides clinicians in under-resourced areas access to best-practice knowledge and training in rheumatology.

Skeletal involvement in Gaucher disease: An observational multicenter study of prognostic factors in the Argentine Gaucher disease patients.

Patients with Gaucher type 1 (GD1) throughout Argentina were enrolled in the Argentine bone project to evaluate bone disease and its determinants. We focused on presence and predictors of bone lesions (BL) and their relationship to therapeutic goals (TG) with timing and dose of enzyme replacement therapy (ERT). A total of 124 patients on ERT were enrolled in a multi-center study. All six TG were achieved by 82% of patients: 70.1% for bone pain and 91.1% for bone crisis. However, despite the fact that bone TGs were achieved, residual bone disease was present in 108 patients on ERT (87%) at time 0. 16% of patients showed new irreversible BL (bone infarcts and avascular osteonecrosis) despite ERT, suggesting that they appeared during ERT or were not detected at the moment of diagnosis. We observed 5 prognostic factors that predicted a higher probability of being free of bone disease: optimal ERT compliance; early diagnosis; timely initiation of therapy; ERT initiation dose ≥45 UI/kg/EOW; and the absence of history of splenectomy. Skeletal involvement was classified into 4 major phenotypic groups according to BL: group 1 (12.9%) without BL; group 2 (28.2%) with reversible BL; group 3 (41.9%) with reversible BL and irreversible chronic BL; and group 4 (16.9%) with acute irreversible BL. Our study identifies prognostic factors for achieving best therapeutic outcomes, introduces new risk stratification for patients and suggests the need for a redefinition of bone TG. Am. J. Hematol. 91:E448-E453, 2016. © 2016 Wiley Periodicals, Inc.

Deleción de los genes LIS1, ASPA, TRPV1 y CAMTA2 de la región 17p13.3 en un paciente con síndrome de Miller-Dieker / Deletion of the LIS1, ASPA, TRPV1 and CAMTA2 genes in region 17p13.3 in a patient with Miller-Dieker syndrome

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Variabilidad fenotípica en pacientes 47, XXX: presentación de cuatro casos nuevos / Phenotypic variability in 47, XXX patients: clinical report of four new cases

El síndrome 47, XXX se debe a un cromosoma extra del par sexual; su incidencia es de 1 en 1000 recién nacidas vivas. Sin embargo, este síndrome no suele sospecharse al nacimiento ni en la infancia. Muchas de estas pacientes son diagnosticadas durante la edad adulta por falla ovárica precoz o esterilidad, debido a la falta de características clínicas específicas .Este trabajo describe cuatro casos de pacientes 47, XXX y su variabilidad fenotípica.

The 47, XXX karyotype has a frequency of 1 in 1000 female newborns. However, this karyotype is not usually suspected at birth or childhood. These patients are usually diagnosed duringadulthood when they develop premature ovarian failure or infertility, because the early phenotype doesn't have anyspecific features. The study describes four cases and the clinical variability of the 47, XXX karyotype.

Variabilidad fenotípica en pacientes 47, XXX: presentación de cuatro casos nuevos / Phenotypic variability in 47, XXX patients: clinical report of four new cases

El síndrome 47, XXX se debe a un cromosoma extra del par sexual; su incidencia es de 1 en 1000 recién nacidas vivas. Sin embargo, este síndrome no suele sospecharse al nacimiento ni en la infancia. Muchas de estas pacientes son diagnosticadas durante la edad adulta por falla ovárica precoz o esterilidad, debido a la falta de características clínicas específicas .Este trabajo describe cuatro casos de pacientes 47, XXX y su variabilidad fenotípica.(AU)

The 47, XXX karyotype has a frequency of 1 in 1000 female newborns. However, this karyotype is not usually suspected at birth or childhood. These patients are usually diagnosed duringadulthood when they develop premature ovarian failure or infertility, because the early phenotype doesnt have anyspecific features. The study describes four cases and the clinical variability of the 47, XXX karyotype.(AU)

[Phenotypic variability in 47, XXX patients: Clinical report of four new cases]. / Variabilidad fenotípica en pacientes 47, XXX: Presentación de cuatro casos nuevos.

The 47, XXX karyotype has a frequency of 1 in 1000 female newborns. However, this karyotype is not usually suspected at birth or childhood. These patients are usually diagnosed during adulthood when they develop premature ovarian failure or infertility, because the early phenotype doesn t have any specific features. The study describes four cases and the clinical variability of the 47, XXX karyotype.

Tumor de la granulosacoexistente con cistoadenomamucinoso en el ovariocontralateral / Concurrent granulosa tumor and mucinous cystoadenoma in the contralateral ovary

Presentamos el caso de una mujer de 57 años concistoadenoma mucinoso en un ovario y tumor dela granulosa como hallazgo casual en el anejocontralateral. Clínicamente, la paciente, que referíauna amenorrea primaria, debutó con metrorragia ytumoración abdominal.Los tumores de la granulosa del adulto, quepertenecen a las neoplasias del estroma gonadaldel ovario, son más frecuentes en mujeresposmenopáusicas. En la clínica suelen debutar consíntomas secundarios a la secreción estrogénica,aunque la proporción de tumores de la granulosasecretores de hormonas es difícil de establecer (AU)

We present the case of a 57-year-old womanwith mucinous cystoadenoma in one ovary andgranulosa tumor as an incidental finding in theother. The patient reported primary amenorrhea,and clinical presentation consisted of metrorrhagiaand an abdominal mass.Adult granulosa tumors, which belong to thegroup of gonadal stroma neoplasms of the ovary,are more common in postmenopausal women.Clinically, these tumors usually manifest withsymptoms secondary to estrogen secretion, althoughthe proportion of tumors of this kind that secretehormones is difficult to establish (AU)