Noninvasive single-cell-based prenatal genetic testing: A proof of concept clinical study.

OBJECTIVE: To clinically assess a cell-based noninvasive prenatal genetic test using sequence-based copy number analysis of single trophoblasts from maternal blood. METHODS: Blood was obtained from 401 (243 + 158) individuals (8-22 weeks) and shipped overnight. Red cells were lysed, and nucleated cells stained for cytokeratin (CK) and CD45 and enriched for positive CK staining. Automated scanning was used to identify and pick single CK+ /CD45- trophoblasts which were subjected to next-generation sequencing. RESULTS: Blood was obtained from 243 pregnancies scheduled for CVS or amniocentesis. Luna results were normal for 160 singletons while 15 cases were abnormal (14 aneuploidy and one monozygotic twin with Williams syndrome deletion). The deletion was confirmed in both fetuses. Placental mosaicism occurred in 7 of 236 (3.0%) Luna cases and in 3 of 188 (1.6%) CVS cases (total 4.6%). No scorable trophoblasts were recovered in 32 of 236 usable samples. Additionally, 158 low-risk pregnancies not undergoing CVS/amniocentesis showed normal results in 133 cases. Seven had aneuploidy results, and there were three likely pathogenic deletions/duplications, including one15q11-q13 deletion. CONCLUSION: Although the sample size is modest and statistically accurate measures of test performance are not possible, the Luna test detected aneuploidy and deletions/duplications based on concordance with CVS/amniocentesis.

Acupuntura em adolescentes com fibromialgia juvenil / Acupuncture in adolescents with juvenile fibromyalgia / Acupuntura en adolescentes con fibromialgia juvenil

Descrever a utilização da acupuntura em adolescentes com fibromialgia juvenil. MÉTODOS: Estudo retrospectivo realizado em pacientes com fibromialgia juvenil (critérios do Colégio Americano de Reumatologia) submetidos a, pelo menos, 11 sessões semanais de acupuntura. As avaliações antes e após acupuntura incluíram dados demográficos, características da dor musculoesquelética, número de pontos dolorosos (NPD), escala visual analógica (EVA) de dor, algiometria e índice miálgico (IM). Durante o estudo, os pacientes puderam usar analgésicos, amitriptilina e foram orientados a praticar atividade física aeróbica. Os resultados antes e após acupuntura foram comparados pelo teste não paramétrico de Wilcoxon. RESULTADOS: Dos 38 pacientes com fibromialgia juvenil acompanhados em oito anos consecutivos, 13 tinham todas as informações nos prontuários e nas fichas de acupuntura e foram avaliados. Destes 13, sete obtiveram melhora nos três parâmetros analisados (número de pontos dolorosos, EVA de dor e IM). As medianas do número de pontos dolorosos e da EVA de dor foram significativamente maiores antes do tratamento quando comparados ao final do tratamento com as sessões de acupuntura [14 (11-18) versus 10 (0-15), p=0,005; 6 (2-10) versus 3 (0-10), p=0,045; respectivamente]. Em contraste, a mediana do IM foi significativamente menor antes do tratamento [3,4 (2,49-4,39) versus 4,2 (2,71-5,99), p=0,02]. Nenhum dos pacientes com fibromialgia juvenil apresentou eventos adversos associados à acupuntura. CONCLUSÕES: Acupuntura é uma modalidade de Medicina Tradicional Chinesa que pode ser utilizada nos pacientes pediátricos com fibromialgia. Futuros estudos controlados serão necessários.

To describe the use of acupuncture in the treatment of adolescents with juvenile fibromyalgia. METHODS: Retrospective study of patients with juvenile fibromyalgia (American College of Rheumatology criteria) submitted at least to 11 weekly sections of acupuncture. The evaluations before and after acupuncture included: demographic data, musculoskeletal pain findings, pain visual analog scale (VAS), algometry, and myalgic index (MI). These patients could be treated with analgesics, amitriptyline and aerobic physical activity. The results before and after acupuncture were compared by non-parametric Wilcoxon test. RESULTS: 38 patients had juvenile fibromyalgia in eight consecutive years, 13 had all information in their medical and acupuncture records. Seven of the 13 patients improved in three parameters (number of tender points, pain VAS and MI). The median number of tender points and VAS was significantly higher before than after treatment with acupuncture sections [14 (11-18) vs. 10 (0-15), p=0.005; 6 (2-10) vs. 3 (0-10), p=0.045; respectively]. In contrast, the median MI was significantly lower before treatment [3.4 (2.49-4.39) vs. 4.2 (2.71-5.99), p=0.02]. None of the patients with juvenile fibromyalgia had adverse events associated with acupuncture. CONCLUSIONS: Acupuncture is a traditional chinese medicine modality that can be used in pediatric patients with fibromyalgia. Future controlled studies are necessary.

Describir el uso de acupuntura en adolescentes con fibromialgia juvenil. MÉTODOS: Estudio retrospectivo realizado en pacientes con fibromialgia juvenil (criterios del Colegio Americano de Reumatología) sometidos a al menos 11 sesiones semanales de acupuntura. Las evaluaciones antes y después de la acupuntura incluyeron datos demográficos, características del dolor musculoesquelético, número de puntos dolorosos (NPD), escala visual analógica (EVA) de dolor, algiometría e índice de mialgia (IM). Durante el estudio, los pacientes pudieron usar analgésicos, amitriptilina, y fueron orientados a practicar actividad física aeróbica. Los resultados antes y después de la acupuntura fueron comparados por la prueba no paramétrica de Wilcoxon. RESULTADOS: De los 38 pacientes con fibromialgia juvenil acompañados en ocho años consecutivos, 13 tenían todas las informaciones en los prontuarios y en las fichas de acupuntura y fueron evaluados. De estos 13, siete obtuvieron mejora en los tres parámetros analizados (número de puntos dolorosos, EVA de dolor e IM). Las medianas del número de puntos dolorosos y del EVA de dolor fueron significativamente mayores antes del tratamiento cuando comparados al final del tratamiento con las sesiones de acupuntura [14 (11-18) vs. 10 (0-15), p=0,005; 6 (2-10) vs. 3 (0-10), p=0,045; respectivamente]. Por otra parte, la mediana del IM fue significativamente menor antes del tratamiento [3,4 (2,49-4,39) vs. 4,2 (2,71-5,99), p=0,02]. Ninguno de los pacientes con fibromialgia juvenil presentó eventos adversos asociados a la acupuntura. CONCLUSIONES: Acupuntura es una modalidad de la Medicina Tradicional China que puede ser utilizada en los pacientes pediátricos con fibromialgia. Futuros estudios controlados serán necesarios.