To address knowledge gaps about Turner syndrome (TS) associated disease mechanisms, the Turner Syndrome Society of the United States created the Turner Syndrome Research Registry (TSRR), a ...patient-powered registry for girls and women with TS. More than 600 participants, parents or guardians completed a 33-item foundational survey that included questions about demographics, medical conditions, psychological conditions, sexuality, hormonal therapy, patient and provider knowledge about TS, and patient satisfaction. The TSRR platform is engineered to allow individuals living with rare conditions and investigators to work side-by-side. The purpose of this article is to introduce the concept, architecture, and currently available content of the TSRR, in anticipation of inviting proposals to utilize registry resources.
Telemedicine (TM) has been a rapidly growing method of providing health care in different medical settings. Using technology to provide healthcare at a distance can be very helpful in improving ...access to health care in rural areas, providing immediate medical care when needed and reducing the cost of delivering medical care. Telemedicine patients often report positive experiences, given the speed of access, time saved, and the ability to stay in contact with healthcare providers. These virtual visits may help improve compliance with follow-up consultations by reducing the barriers of distance and transportation.Telemedicine may also be used in providing service coverage when the medical provider becomes suddenly unavailable due to any kind of emergency (medical, social).We present our experience in using TM as a tool for provider coverage in an immediate need situation as an alternative to rescheduling patent appointmentsWe evaluated families choice in accepting a TM visit in a pediatric endocrinology clinic as an alternative to rescheduling appointments with the provider who suddenly became unavailable due to a medical emergency. The families were educated about the TM visit and were given the option to participate. The TM visits were conducted between two medical practices Fourteen families were offered a TM visit when their physician was not available to conduct the visit. Six families (42%) agreed to participate in the TM visits, four families (66%) showed up. All cases of TM visits were follow up visits to review the medical condition, growth parameters, laboratory test results and discuss the management plan.Satisfaction rate regarding the TM visit was obtained at the end of the visit, this TM visit was the first experience for all families, all of the participating families (100%) expressed satisfaction with the visit and stated that they would participate in TM visits in the future, if offered.Families who declined the TM visit were rescheduled for traditional physician visits with the same provider or another provider within the same group.Telemedicine can offer a fast and practical solution to provide coverage for physicians when there is a sudden immediate need. Rescheduling may not be well received from some patients so having the TM option is a futuristic way of covering health care delivery. Patients should be informed about the TM visit structure prior to their participation. Conducting TM visit when patients are at home may increase acceptance and participation.
Abstract Marshall-Smith Syndrome (MRSHSS) is a very rare genetic disorder characterized by failure to thrive and characteristic dysmorphic features associated with accelerated osseous maturation. We ...present a nine-year-old girl who was diagnosed with MRSHSS based on characteristic clinical features supported by the identification of a novel de novo pathogenic variant in the NFIX gene. The patient also presented with precocious puberty diagnosed at five years of age and had an abnormal GnRH stimulation test indicative of central precocious puberty. Central precocious puberty has not been described in association with MRSHSS previously in the medical literature and broadens our knowledge of the natural history of MRSHSS. The causes of advanced bone age in this syndrome are also reviewed. Additionally, the patient showed progressive dilatation of the aortic root. Although connective tissue abnormalities have been described in association with MRSHSS, aortic root dilatation has not. Understanding the mechanism of comorbidities such as advanced bone age and aortic root dilatation in MRSHSS patients enables future development of anticipatory guidance, preventative care measures, and treatment guidelines.
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