RESUMEN
OBJECTIVES: To evaluate the prevalence and degree of any neurodevelopmental abnormalities in children with familial hypocalciuric hypercalcemia type 3 (FHH3). STUDY DESIGN: A formal neurodevelopmental assessment was performed in children diagnosed with FHH3. The Vineland Adaptive Behavior Scales, which is a standardized parent report assessment tool for adaptive behavior, was used to assess communication, social skills, and motor function and to generate a composite score. RESULTS: Six patients were diagnosed with hypercalcemia between 0.1 and 8 years of age. All had neurodevelopmental abnormalities in childhood consisting of either global developmental delay, motor delay, expressive speech disturbances, learning difficulties, hyperactivity, or autism spectrum disorder. Four out of the 6 probands had a composite Vineland Adaptive Behavior Scales SDS of < -2.0, indicating adaptive malfunctioning. Significant deficits were observed in the domains of communication (mean SDS: -2.0, P < .01), social skills (mean SDS: -1.3, P < .05), and motor skills (mean SDS: 2.6, P < .05). Individuals were equally affected across domains, with no clear genotype-phenotype correlation. All family members affected with FHH3 also described evidence of neurodevelopmental dysfunction, including mild-to-moderate learning difficulties, dyslexia, and hyperactivity. CONCLUSION: Neurodevelopmental abnormalities appear to be a highly penetrant and common feature of FHH3, and early detection is warranted to provide appropriate educational support. This case series also supports consideration of serum calcium measurement as part of the diagnostic work-up in any child presenting with unexplained neurodevelopmental abnormalities.
Asunto(s)
Trastorno del Espectro Autista , Hipercalcemia , Enfermedades Renales , Humanos , Hipercalcemia/diagnóstico , Hipercalcemia/genética , Trastorno del Espectro Autista/complicaciones , Trastorno del Espectro Autista/diagnóstico , Comunicación , Estudios de Asociación GenéticaRESUMEN
PURPOSE: To update the 2013 Multinational Association of Supportive Care in Cancer/International Society of Oral Oncology (MASCC/ISOO) clinical practice guidelines on oral cryotherapy for the management of oral mucositis (OM) caused by cancer therapies. METHODS: A systematic review was conducted by the Mucositis Study Group of MASCC/ISOO. The evidence for each intervention for specific cancer treatment modalities was assigned a level of evidence (LoE). The findings were added to the database used to develop the 2013 MASCC/ISOO clinical practice guidelines. Based on the LoE, the guidelines were set as: recommendation, suggestion, or no guideline possible. RESULTS: A total of 114 papers were identified: 44 from PubMed and 70 from Web of Science. After abstract triage and merging with the 2013 database, 36 papers were reviewed. The LoE for prevention of OM with oral cryotherapy in patients undergoing autologous hematopoietic stem cell transplant using high-dose melphalan conditioning protocols was upgraded, and the guideline changed to recommendation. Additionally, the recommendation for prevention of OM with oral cryotherapy in patients receiving bolus 5-fluorouracil for the treatment of solid tumors was confirmed. No guidelines were possible for other clinical settings. CONCLUSIONS: The evidence supports recommendations for the use of oral cryotherapy for the prevention of OM for either (i) patients undergoing autologous hematopoietic stem cell transplant with high-dose melphalan conditioning protocols or (ii) patients receiving bolus 5-fluorouracil chemotherapy.
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Crioterapia/métodos , Mucositis/terapia , Estomatitis/terapia , Antineoplásicos/efectos adversos , Antineoplásicos/uso terapéutico , Humanos , Masculino , Oncología Médica , Mucositis/inducido químicamente , Neoplasias/tratamiento farmacológico , Estomatitis/inducido químicamenteRESUMEN
OBJECTIVE AND BACKGROUND DATA: Studies suggest that intraoral low-level laser therapy (LLLT) can ameliorate oral mucositis in adult patients receiving high-dose chemotherapy. The objective of this study was to evaluate the use of a combined protocol of intraoral and extraoral LLLT in children undergoing hematopoietic stem cell transplantation (HSCT). METHODS: Twelve children undergoing HSCT were treated four times a week with a combined protocol of intraoral and extraoral LLLT, for a mean duration of 22 days. Clinical and functional mucositis scores were assessed using the National Cancer Institute Common Terminology Criteria for Adverse Events (NCI-CTCAE). These scores were compared with a matched retrospective control group of 12 children who did not receive LLLT during HSCT. RESULTS: Clinical mucositis scores were significantly lower in the LLLT group than in the control group (p = 0.004). Incidence of ulcerative oral mucositis was also significantly lower in the LLLT group (p = 0.027). Functional limitation associated with diet/swallowing was less severe in the LLLT group; however, this was not statistically significant. CONCLUSIONS: This study indicates that a combined protocol of intraoral and extraoral application of LLLT can reduce the severity of oral mucositis in pediatric patients undergoing HSCT. Randomized double-blind clinical trials with a larger number of subjects are needed to further test such combined protocols.
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Trasplante de Células Madre Hematopoyéticas , Terapia por Luz de Baja Intensidad/métodos , Mucositis/prevención & control , Adolescente , Niño , Preescolar , Femenino , Humanos , Masculino , Proyectos PilotoRESUMEN
BACKGROUND AND OBJECTIVES: Several studies have suggested that low-level laser therapy (LLLT) can ameliorate oral mucositis; however, the mechanisms involved are not well understood. The aim of this study was to investigate the mechanisms of action of LLLT on chemotherapy-induced oral mucositis, as related to effects on collagen expression and inflammation. MATERIALS AND METHODS: A hamster cheek pouch model of oral mucositis was used with all animals receiving intraperitoneal 5-fluorouracil, followed by surface irritation. Animals were randomly allocated into three groups, and treated with an InGaAIP diode laser at a wavelength of 660 nm and output power of 35 or 100 mW laser, or no laser. Clinical severity of mucositis was assessed at four time-points by a blinded examiner. Buccal pouch tissue was harvested from a subgroup of animals in each group at four time-points. Collagen was qualitatively and quantitatively evaluated after picrosirius staining. The density of the neutrophil infiltrate was also scored. RESULTS: Peak clinical severity of mucositis was reduced in the 35 mW laser group as compared to the 100 mW and control groups. The reduced peak clinical severity of mucositis in the 35 mW laser group was accompanied by a decrease in the number of neutrophils and an increase in the proportion of mature collagen as compared to the other two groups. The total quantity of collagen was significantly higher in the control (no laser) group at the day 11 time-point, as compared to the 35 mW laser group, consistent with a more prolonged inflammatory response in the control group. CONCLUSION: This study supports two mechanisms of action for LLLT in reducing mucositis severity. The increase in collagen organization in response to the 35 mW laser indicates that LLLT promotes wound healing. In addition, LLLT also appears to have an anti-inflammatory effect, as evidenced by the reduction in neutrophil infiltrate.