Purpose To assess the impact of a home telemedicine clinic model (CoYoT1 Clinic) on psychosocial and behavioral outcomes designed for young adults (YAs) with type 1 diabetes (T1D). Methods YAs self-selected to participate in the CoYoT1 Clinic or serve as a usual care control. CoYoT1 Clinic visits consisted of an individual appointment with a provider and a group appointment with other YAs with T1D using home telemedicine. Psychosocial and behavioral functioning was assessed by 4 measures: Diabetes Distress Scale, Self-Efficacy for Diabetes Scale, Self-Management of Type 1 Diabetes in Adolescence Scale, and Center for Epidemiologic Studies Depression Scale. Results Forty-two patients participated in the CoYoT1 Clinic and 39 patients served as controls. CoYoT1 participants reported lower levels of distress ( P = .03), increased diabetes self-efficacy ( P = .01), and improved ability to communicate with others about diabetes ( P = .04) over the study period compared to controls. YA males in the control group reported increases in depressive symptoms ( P = .03) during the study period, but CoYoT1 participants showed no changes. Conclusion Group home telemedicine for YAs with T1D positively affects diabetes distress, self-efficacy, and diabetes-specific communication. These positive findings have the potential to also affect the YAs’ long-term diabetes outcomes. Further investigation of the model is needed.

Introduction: Progressive osseous heteroplasia (POH) is a rare bone disorder characterized by heterotopic ossification in the skin and muscles, resulting in contractures of the joints and progressive loss of function. Whereas 60-70% of the POH patients have paternally inherited inactivating mutations in GNAS gene, the remaining 30-40% harbor no specific etiologies. FAM111B gene mutations, located on chromosome 11q12.1, cause POIKTMP (hereditary fibrosing poik iloderma with t endon contractures, m yopathy, and p ulmonary fibrosis), a rare autosomal dominant disorder with high frequency of de novo missense mutations, which are believed to cause extensive fibrosis and adiposis of many tissues, though the exact mechanism is unknown. To our knowledge there are no reports of FAM111B associated with POH. Case: We describe a 15-year-old African American boy who presented with generalized calcific nodules, contractures, and muscle weakness leading to immobility, beginning at the age of 6 years. Cutaneous exam showed generalized hard nodules varying from small to plaque-like ulcerated erupted skin lesions. Biochemical evaluation revealed 25(OH) vitamin D insufficiency (20 ng/mL), and normal levels of parathyroid hormone, FGF-23, alkaline phosphatase, calcium, and phosphorus. Skeletal survey radiographs showed extensive heterotopic ossification involving soft tissues and muscles surrounding the bilateral humeri, ulnae, femurs, and bilateral tibias/fibulas. Computed tomography of the chest, abdomen, and pelvis showed extensive muscle ossifications involving right latissimus dorsi, left scalene, bilateral pectoralis and external oblique abdominal, right iliacus, bilateral gluteal, left adductor, and left hamstring. There was also an involvement of the subcutaneous tissues of the right upper back and left lower quadrant of the abdomen, left posterior sacral region, bilateral hips, and the fascia superficial to the erector spinae muscles with no abnormal ossifications in the bones. The clinical and radiographic findings were consistent with POH. Whole Exome Sequencing revealed a de novo heterozygous frameshift mutation in FAM111B (OMIM # 615584) of c.1462delT (p.Cys488Valfs*21) variant, causing replacement of C-terminal region with 21 alternative amino acids. Multiple previously reported disease-associated variants appear to localize within the same domain, supporting the functional importance of this region, though none have been previously associated with POH. Thus, we consider this variant to be pathogenic. Conclusion: This is the first case of POH caused by a mutation in FAM111B gene. Whether POH phenotype could be explained by mutations in FAM111B gene traditionally re...

Therefore, we believe that these treatment modalities may have played a role in the development of KS beneath the cutaneous horn in our patient.In conclusion, KS should be considered in the differential diagnosis of lesions at the base of cutaneous horns, especially when located on the lower extremities.

Background: Osteogenesis imperfecta (OI) is a rare heterogeneous bone fragility disease due to collagen defect most often caused by autosomal dominant (AD) COL1A1 or COL1A2 gene mutations. Severe forms of Hypophosphatasia (HPP) may phenotypically resemble OI, is a distinct disorder of hypomineralization caused by the mutations in the tissue-nonspecific alkaline phosphatase ( ALPL ) gene. Here in, we present the first case of a neonate with severe perinatal OI caused by a novel AD mutation in COL1A1 gene with HPP phenotype treated with asfotase alfa. Case : A 3-day-old full-term boy born by cesarean section presented with multiple fractures & dislocated hips at birth. On physical exam, he was found to have respiratory distress ultimately requiring intubation, hypoplastic rib-cage, blue sclerae, mesomelia, rhizomelia, left & right dislocated hips. Skeletal survey showed multiple fractures of long bones and ribs of varying ages, characteristic of OI. In addition, he was noted to have generalized hypomineralization, hypoplastic ribs, and some metaphyseal flaring. Interestingly, biochemical evaluation revealed hypercalcemia (corrected calcium of 11.7 mg/dL), low alkaline phosphatase (ALP) 58(80-270 U/L), slightly elevated pyridoxal 5” phosphate 52 (5-50 mg/dL) & high urine phosphoethanolamine 285(83-222 mcmol/g Cr). Due to clinical, radiographic, and biochemical findings concerning for HPP, the patient was started on asfotase alfa. The genetic testing showed a novel likely pathogenic heterozygous variant Chr17: c.1201G>C (p.Gly401Arg) in the COL1A1 gene consistent with AD OI. The ALPL gene sequencing revealed no variants in the coding region with 100% coverage of the region. After 7 wks of treatment, x-rays showed two new long bone fractures, but interval osseous remodeling & healing of the previous fractures with an overall improvement in the tubulation of the long bones. Conclusion: To our knowledge, this is the first report describing low ALP activity with phenotypic features of HPP in a neonate with severe perinatal OI due to a novel AD COL1A1 mutation. The low ALP could be due to osteoblasts dysfunction rather than ALPL gene causing enzyme deficiency & it highlights a potentially important role of osteoblasts in the pathogenesis of OI leading to reduced ALP activity and HPP phenotype. Interestingly, patients with lethal type II OI exhibit hypoplastic ribs and generalized hypomineralization; and, osteoblastic dysfunction has been suggested. It is tempting to speculate that low ALP activity may potentially have an additive effect on the severity and possibly lethality of certain most severe forms of OI contributing to potentially a new phenotype of this heterogeneous disorder. Long-term follow-up is needed to see if the patient will benefit from asfotase alfa treatment. In addition, further studi...