Utilidad de la realidad virtual en el manejo del dolor asociado a venopunción: ensayo clínico aleatorizado multicéntrico / Usefulness of virtual reality in the management of pain associated with venepuncture: A multicentre randomized clinical trial

Objetivo: Comprobar la eficacia de la realidad virtual (RV) en la disminución del dolor y ansiedad asociados a extracciones sanguíneas programadas. Material y métodos: Ensayo clínico aleatorizado multicéntrico realizado en atención primaria y hospitalaria. Se incluyeron los pacientes de 7 a 12 años que acudieron entre marzo y octubre de 2022 a realizarse una extracción sanguínea programada. En el grupo intervención se utilizaron gafas de RV y en el grupo control cuidados habituales. Se evaluó el dolor mediante la escala visual analógica y la ansiedad mediante la Groningen Distress Scale. Se evaluó la ansiedad de enfermería y la satisfacción de los familiares, mediante escala numérica del 1 al 10. Resultados: Se incluyeron 83 pacientes: 40 en el grupo control y 43 en el grupo RV. La mediana de edad fue de 10 años (rango de 7 a 12); 83,7% de los niños en el grupo RV refirió dolor leve, frente a 57,5% del grupo control (p = 0,012). Del grupo RV, 93% mostró calma o ansiedad leve (puntuación 1-2), frente a 72% del grupo control, aunque sin diferencias estadísticamente significativas (p = 0,08). La satisfacción de los familiares fue mayor en el grupo RV (≥ 9/10: 93% de RV vs. 72,5% de controles, p = 0,026). La ansiedad de enfermería fue < 5 en más del 90% de los casos, sin diferencias entre grupos (p = 0,13). Conclusiones: El uso de RV durante la venopunción disminuye el dolor percibido por los niños y aumenta la satisfacción de sus familiares.(AU)

Objective: To assess the efficacy of virtual reality (VR) in reducing pain and anxiety associated with scheduled blood draws. Material and methods: We conducted multicentre randomized clinical trial in both primary care and hospital settings. The study included children aged 7–12 years undergoing blood extraction procedures between March and October 2022. The intervention group used headsets, and the control group received usual care. Pain was assessed using the visual analogue scale and anxiety using the Groningen Distress Scale. The anxiety of the nursing staff and family satisfaction were assessed with numerical scales ranging from 1 to 10. Results: The study included 83 patients: 40 in the control group and 43 in the VR group. The median age was 10 years (range, 7–12 years). In the VR group, 83.7% of the children reported mild pain, compared to 57.5% in the control group (P = .012). Also, 93% of children in the VR group showed calm or mild anxiety (score, 1–2), compared to 72% of the control group, a difference that was not statistically significant (P = .08). Family satisfaction was higher in the RV group (score ≥ 9/10: 93% of RV group vs. 72.5% of control group; P = .026). The nursing staff anxiety score was less than 5 in more than 90% of cases, with no differences between groups (P = .13). Conclusions: The use of VR during venepuncture decreases the pain perceived by children and increases the satisfaction of their families.(AU)

A novel mutation in the NNT gene causing familial glucocorticoid deficiency, with a literature review.

Familial glucocorticoid deficiency (FGD) is an autosomal recessive disorder characterized by low cortisol levels despite elevated adrenocorticotropin (ACTH). Mineralocorticoid secretion is classically normal. Clinical manifestations are secondary to low cortisol levels (recurrent hypoglycemia, chronic asthenia, failure to thrive, seizures) and high levels of ACTH (cutaneous-mucosal hyperpigmentation). FGD is often caused by mutations in the ACTH melanocortin 2 receptor gene (MC2R, 18p11.21, FGD type 1) or melanocortin receptor 2 accessory protein gene (MRAP, 21q22.11, FGD type 2). But mutations have also been described in other genes: the steroidogenic acute regulatory protein (STAR, 8q11.2q13.2, FGD type 3), nicotinamide nucleotide transhydrogenase (NNT, 5p12, FGD type 4) and thioredoxin reductase 2 genes (TXNRD2, 22q11.21, FGD type 5). We report the case of a 3-year-old boy recently diagnosed with FGD type 4 due to a novel mutation in NNT gene. A homozygous variant in exon 18 of the NNT gene, NM_012343.3:c.2764C>T, p.(Arg922*), determines a stop codon and, consequently, a non-functional truncated protein or absence of protein due to the nonsense-mediated decay (NMD) mechanism. We review the recent literature on NNT mutations and clinical presentations, which are broader than suspected. This disorder can result in significant morbidity and is potentially fatal if untreated. Precise diagnosis allows correct treatment and follow-up.

Usefulness of virtual reality in the management of pain associated with venepuncture: a multicentre randomized clinical trial.

OBJECTIVE: To assess the efficacy of virtual reality (VR) in reducing pain and anxiety associated with scheduled blood draws. MATERIAL AND METHODS: We conducted multicentre randomized clinical trial in both primary care and hospital settings. The study included children aged 7-12 years undergoing blood extraction procedures between March and October 2022. The intervention group used headsets, and the control group received usual care. Pain was assessed using the visual analogue scale and anxiety using the Groningen Distress Scale. The anxiety of the nursing staff and family satisfaction were assessed with numerical scales ranging from 1 to 10. RESULTS: The study included 83 patients: 40 in the control group and 43 in the VR group. The median age was 10 years (range, 7-12 years). In the VR group, 83.7% of the children reported mild pain, compared to 57.5% in the control group (P = .012). Also, 93% of children in the VR group showed calm or mild anxiety (score, 1-2), compared to 72% of the control group, a difference that was not statistically significant (P = .08). Family satisfaction was higher in the RV group (score ≥ 9/10: 93% of RV group vs 72.5% of control group; P = .026). The nursing staff anxiety score was less than 5 in more than 90% of cases, with no differences between groups (P = .13). CONCLUSION: The use of VR during venepuncture decreases the pain perceived by children and increases the satisfaction of their families.

Familial hyperaldosteronism type III a novel case and review of literature.

Less than 15% of hypertension cases in children are secondary to a primary hyperaldosteronism. This is idiopathic in 60% of the cases, secondary to a unilateral adenoma in 30% and 10% remaining by primary adrenal hyperplasia, familial hyperaldosteronism, ectopic aldosterone production or adrenocortical carcinoma.To date, four types of familial hyperaldosteronism (FH I to FH IV) have been reported. FH III is caused by germline mutations in KCNJ5, encoding the potassium channel Kir3.4. The mutations cause the channel to lose its selectivity for potassium, allowing large quantities of sodium to enter the cell. As a consequence, the membrane depolarizes, voltage-gated calcium channels open, calcium enters the cell, initiating the cascade that leads to aldosterone synthesis. Somatic mutations in KCNJ5 has also been described in aldosterone-producing adenomas. The most frequent presentation of FH III is with severe hyperaldosteronism symptoms and resistance to pharmacological therapy which leads to bilateral adrenalectomy. We will review current literature and describe a child with FH III due to a novel de novo deletion in KCNJ5 with wild phenotype as a sign of clinical variability of this disease.