Mental health in paediatric and adult myositis-related diseases: current state of research, interventions, and future steps from the MIHRA Psychological Impact Scientific Working Group.

Psychological and emotional well-being are critical aspects of overall health for individuals with chronic rheumatologic conditions. Mental health-related literature, however, predominantly focuses on systemic lupus erythematosus or rheumatoid arthritis, with limited emphasis on idiopathic inflammatory myopathies (IIMs). High proportions of those with juvenile myositis report psychological distress at levels warranting mental health referral. Adults with dermatomyositis diagnosed with depression or anxiety do not receive adequate mental health care. Mental health symptoms in those with IIMs are associated with worse health-related quality of life, medication adherence, and disease outcomes. Despite demonstrated high rates of mental health burden, access to mental health care remains severely lacking.Data related to mental health burden is limited by small sample size, limited generalisability, variable methods of assessment, and inconsistent diagnosis codes to define mental health conditions. Additional research is needed to validate current screening tools in myositis populations. Other relevant measurable factors include disease severity, non-health- and health-related trauma exposure, loneliness, isolation, loss of control, sleep difficulties, fatigue, pain, self-esteem, body image, sexual health, and health inequities. Studiesare needed investigating the efficacy of therapeutic and pharmacologic interventions among patients with myositis who experience depression and anxiety. Currently, knowledge and resources are limited around mental health burden and potential intervention for those living with IIMs. The Myositis International Health & Research Collaborative Alliance (MIHRA) Psychological Impact Scientific Working Group offers a preliminary road map to characterise and prioritise the work ahead to understand baseline mental health burden and compare avenues for intervention.

Collaborative research in myositis-related disorders: MIHRA, a global shared community model.

Myositis International Health and Research Collaborative Alliance (MIHRA) is a newly formed purpose-built non-profit charitable research organization dedicated to accelerating international clinical trial readiness, global professional and lay education, career development and rare disease advocacy in IIM-related disorders. In its long form, the name expresses the community's scope of engagement and intent. In its abbreviation, MIHRA, conveys linguistic roots across many languages, that reflects the IIM community's spirit with meanings such as kindness, community, goodness, and peace. MIHRA unites the global multi-disciplinary community of adult and pediatric healthcare professionals, researchers, patient advisors and networks focused on conducting research in and providing care for pediatric and adult IIM-related disorders to ultimately find a cure. MIHRA serves as a resourced platform for collaborative efforts in investigator-initiated projects, consensus guidelines for IIM assessment and treatment, and IIM-specific career development through connecting research networks.MIHRA's infrastructure, mission, programming and operations are designed to address challenges unique to rare disease communities and aspires to contribute toward transformative models of rare disease research such as global expansion and inclusivity, utilization of community resources, streamlining ethics and data-sharing policies to facilitate collaborative research. Herein, summarises MIHRA operational cores, missions, vision, programming and provision of community resources to sustain, accelerate and grow global collaborative research in myositis-related disorders.

Subdural hemorrhage, macrocephaly, rash, and developmental delay in an infant: A pathogenic variant in NLRP3 causes CINCA/NOMID.

Subdural hemorrhages (SDHs) in children are most often observed in abusive head trauma (AHT), a distinct form of traumatic brain injury, but they may occur in other conditions as well, typically with clear signs and symptoms of an alternative diagnosis. We present a case of an infant whose SDH initially raised the question of AHT, but multidisciplinary evaluation identified multiple abnormalities, including rash, macrocephaly, growth failure, and elevated inflammatory markers, which were all atypical for trauma. These, along with significant cerebral atrophy, ventriculomegaly, and an absence of other injuries, raised concerns for a genetic disorder, prompting genetic consultation. Clinical trio exome sequencing identified a de novo likely pathogenic variant in NLRP3, which is associated with chronic infantile neurological, cutaneous, and articular (CINCA) syndrome, also known as neonatal-onset multisystem inflammatory disease (NOMID). He was successfully treated with interleukin-1 blockade, highlighting the importance of prompt treatment in CINCA/NOMID patients. This case also illustrates how atraumatic cases of SDH can be readily distinguished from AHT with multidisciplinary collaboration and careful consideration of the clinical history and exam findings.

Storytelling of Young Adults with Chronic Rheumatologic Illnesses: A Pilot Study.

Background: Narrative medicine allows patients to reconstruct medical experiences through written portrayals of perspectives, building a mutual depiction of illness while creating a sense of belonging. This modality has not been previously studied in youth with rheumatologic illnesses, a population with high mental health burden and worse health-related quality of life. We aimed to assess the feasibility of a storytelling intervention in this patient population. Methods: This is a mixed-methods study of 14−21-year-olds with rheumatologic diseases followed in the Bronx, NY. Participants completed an hour-long creative writing session focused on patient experience with chronic disease. Pre- and post-questionnaires assessed patient-reported outcomes, and post-participation video interviews assessed personal experiences through the storytelling session. Results: Thirteen female patients were divided amongst four creative writing sessions. Twelve patients completed pre-study questionnaires and 10 completed post-study questionnaires, with 100% completion of the post-participation interviews. PedsQL surveys showed statistically significant improvement in physical health (p < 0.02), and there was no significant difference between pre- and post-scores for any other questionnaires. Interview thematic domains included writing motivation, prior writing experience, illness experience, relating to others, relationship with providers, and support. Conclusion: Creative writing is a feasible and acceptable intervention for youth with rheumatologic illnesses.

Nodular Regenerative Hyperplasia of the liver in Juvenile Dermatomyositis.

BACKGROUND: We present two cases of Nodular Regenerative Hyperplasia (NRH) associated with Juvenile Dermatomyositis (JDM). CASE PRESENTATION: Case 1: A nine-year-old Caucasian male with refractory JDM and anti-NXP2 autoantibodies was diagnosed at age two. Over seven years, he developed arthritis, dysphagia, dysphonia, severe calcinosis, and colitis. Complications included recurrent cellulitis, infections, and hepatosplenomegaly. Multiple medications were chronically used, including prednisone, methotrexate, azathioprine, cyclophosphamide, mycophenolate mofetil, rituximab, tacrolimus, etanercept, abatacept, infliximab, and tocilizumab. Case 2: A 19-year-old Asian female with chronically active JDM and anti-MDA5 autoantibodies was diagnosed at age 15. Symptomatology included ulcerative skin lesions, Raynaud's phenomenon with digital ulcers, arthritis, interstitial lung disease with pulmonary hypertension, and calcinosis. Medications included chronic use of prednisone, methotrexate, abatacept, cyclophosphamide, mycophenolate mofetil, rituximab, tofacitinib, and sildenafil. In both patients, clinical symptomatology was not suggestive of liver disease or portal hypertension, but laboratory studies revealed elevated serum transaminases with progressive thrombocytopenia and no active liver-associated infections. The first patient's liver ultrasound showed coarse hepatic texture with mild echogenicity, splenomegaly, and portal hypertension. The second patient's liver ultrasound was normal, but elastography indicated increased stiffness. Liver biopsy confirmed NRH in both patients. CONCLUSIONS: It is difficult to recognize NRH in JDM, as it often presents with elevated transaminases which may be mistaken for JDM muscle flare, corticosteroid-related fatty liver, or medication-related transaminitis. NRH has been associated with several medications used to treat JDM, including methotrexate, azathioprine, and cyclophosphamide, which should be discontinued if NRH develops. Providers should consider NRH in JDM patients with severe, refractory disease who have persistently elevated transaminases and persistent thrombocytopenia.

Prepubertal and Adolescent Vulvovaginitis: What to Do When a Girl Reports Vaginal Discharge.

Vaginitis presents with vaginal discharge, odor, pruritis, and/or discomfort and affects up to 75% of girls and women over the course of their lifetimes, with most women experiencing their first episode during adolescence. Given the prevalence of this disorder, this article aims to provide an overview of vaginitis for the general pediatrician. We start with prepubertal etiologies of vaginitis, then discuss pubertal and normal physiologic discharge, and then focus on the most common etiologies of adolescent vulvovaginitis. The three most common microbial etiologies of vaginitis (bacterial vaginosis, vulvovaginal candidiasis, and trichomonas) are addressed, as well as their diagnosis and treatment in adolescents. [Pediatr Ann. 2020;49(4):e170-e175.].

Correction to: Residual Renal Function and Obstructive Sleep Apnea in Peritoneal Dialysis: A Pilot Study.

The original version of this article unfortunately contained a mistake in the article title. The correct article title is "Residual Renal Function and Obstructive Sleep Apnea in Peritoneal Dialysis: A Pilot Study".

Residual Renal Function and Obstructive Sleep Apnea in Peritoneal Dialysis: A Pilot Study.

PURPOSE: Obstructive sleep apnea is common in patients with end-stage renal disease, and there is increasing evidence that clinical factors specific to end-stage renal disease contribute pathophysiologically to obstructive sleep apnea. It is not known whether circumstances specific to dialysis modality, in this case peritoneal dialysis, affect obstructive sleep apnea. Our study aimed to investigate the prevalence of obstructive sleep apnea in the peritoneal dialysis population and the relevance of dialysis-specific measures and kidney function in assessing this bidirectional relationship. METHODS: Participants with end-stage renal disease who were treated with nocturnal automated peritoneal dialysis for at least 3 months were recruited from a hospital-based dialysis center. Laboratory measures of dialysis adequacy, peritoneal membrane transporter status, and residual renal function were gathered by chart review. Patients participated in a home sleep apnea test using a level III sleep apnea monitor. RESULTS: Of fifteen participants recruited, 33% had obstructive sleep apnea diagnosed by apnea-hypopnea index ≥ 5 events per hour of sleep. Renal creatinine clearance based upon 24-h urine collection was negatively correlated with apnea-hypopnea index (ρ = - 0.63, p = 0.012). There were no significant associations between anthropometric measures, intra-abdominal dwell volume, or peritoneal membrane transporter status and obstructive sleep apnea measures. CONCLUSIONS: The prevalence of obstructive sleep apnea and sleep disturbances is high in participants receiving peritoneal dialysis. Elevated apnea-hypopnea index is associated with lower residual renal function, whereas dialysis-specific measures such as intra-abdominal dwell volume and peritoneal membrane transporter status do not correlate with severity of obstructive sleep apnea.

Management of uncommon disorders in pregnancy: Von Hippel-Lindau disease, Gitelman syndrome, and Nutcracker syndrome.

Uncommon renal disorders in pregnancy can be challenging to manage given limited evidence in the literature to guide management. We present a series of three uncommon renal disorders in pregnancy: Von Hippel-Lindau disease, Gitelman syndrome, and Nutcracker syndrome. Previously published case reports with differing outcomes offer some guidance to the management of these disorders in pregnancy. In this case series, we address the management of these syndromes during pregnancy and discuss the maternal and fetal outcomes. All three of our patients had good maternal and fetal outcomes, which will contribute to current data on maternal and fetal outcomes in these rare diseases, which is limited.

Prospective analysis of stability testing for bone-anchored hearing implants in children after osseointegrating surgery without skin thinning.

OBJECTIVES: To report normative values for osseointegration in 10 children with bone-anchored hearing implants who were consecutively operated on using a tissue preserving technique with individualized abutments and prospectively followed with stability testing 1 year after surgery. METHODS AND MATERIAL: Children were implanted with bone-anchored hearing devices using a non-skin thinning implantation technique and followed during the course of a year. Mean age was 5.1 years. Stability testing with Osstell's resonance frequency analysis (RFA) measurement was used at each visit, providing values between 0 and 100 (representing a range of low to high stability, respectively). Clinical signs and symptoms were also noted at each visit. Three of the children were operated on using a two-step procedure, while the remaining seven children were operated on using a one-step procedure. RESULTS: Eight of the children showed skin-related problems during the 1-year control period that were easily treated. Two children experienced an abutment loss early following surgery (1 two-step and 1 one-step) and showed low resonance measurements of 30 or less within the first 3-4 weeks. Two children experienced a traumatic abutment loss and two required a change in abutment length. CONCLUSIONS: During the 1-year follow-up, nine children demonstrated signs of peri-implant infections, only two of which were recurrent. Stability was measured to be higher in eight children with longer abutments. Two children experienced low stability (<30) and abutment loss without peri-implant infection, while two additional children experienced abutment loss due to trauma. After the 1-year study period, 10 out of the 10 children used their hearing aid and mean ISQ values were 56.2 and 47.5 for 6mm and 9mm abutments, respectively.

Stability testing after osseointegrated implant surgery without skin thinning in children: case reports after abutment loss.

OBJECTIVE: To evaluate 2 cases of implant loss after osseointegration using low-resonance frequency analysis. PATIENTS: Ten children were operated on consecutively with the non-skin-thinning implantation of bone-anchored hearing devices. A capsule report was completed with 2 children who experienced loss of their abutments 3 to 4 weeks after implantation. INTERVENTION: Eligible children for bone-anchored hearing device implantation were operated on and followed for a total of 1 year. Visits were planned for 1 week, 3 months, 6 months, and 12 months after surgery. Each visit included clinical controls and a stability test with Osstell's resonance frequency analysis measurement, using stability values from 0 to 100 (representing a range of low to high stability, respectively). Of the 10 cases, two were performed as a 2-step, whereas the other 8 were performed as a 1-step non-skin-thinning procedure. MAIN OUTCOME MEASURE AND RESULTS: Two of the children (1 two-step and 1 one-step) showed low-resonance measurements of 30 or less after surgery. Both of these children lost their abutments early after surgery. These children had no skin-related problems at the time of abutment loss. CONCLUSION: It may be possible to predict abutment loss in children with primary resonance values lower than 30.

A five-year follow-up on the osseointegration of bone-anchored hearing device implantation without tissue reduction.

OBJECTIVE: To evaluate the outcome of the non-skin thinning technique as compared with the thinning technique 5 years after surgical implantation of bone-anchored hearing "devices." STUDY DESIGN: A single-center, 5-year retrospective follow-up study was designed to evaluate the novel surgical technique without skin thinning as compared to conventional techniques. Eligible patients were consecutively operated on 5 years earlier in a test group without thinning and in two control groups with thinning. In the first control group, a flap technique was used, whereas in the second control group a dermatome technique was used and age-matched patients were selected. MATERIALS AND METHODS: Thirty-six patients were operated on with a single-step surgery under local anesthesia. In the test group (non-skin thinning technique), 12 patients were operated on with a linear incision using an 8.5-mm abutment. In the control groups (flap and dermatome techniques, 12 patients in each group), the standard protocol with skin thinning was used with a 5.5-mm abutment. RESULTS: Throughout the 5-year span under review, the non-skin thinning test group exhibited good preservation of tissue with decreased skin reactions and no adverse events. The time required for surgery without skin thinning was reduced to approximately 10 to 15 minutes and the cosmetic outcome after 5 years was improved. Numbness and peri-implant infections were minimal in the surrounding skin area for patients who underwent surgery without thinning. CONCLUSION: This 5-year follow-up study demonstrates that percutaneous osseointegrated implantation without skin thinning is safe and has a better outcome than implantation with skin thinning.

Percutaneous osseointegrated implant surgery without skin thinning in children: a retrospective case review.

OBJECTIVE: To determine the follow-up status of osseointegration in children and to see if the omission of skin thinning in percutaneous osseointegrated implant surgery can be beneficial for children, 2 groups of children who underwent surgery with and without skin thinning were compared. STUDY DESIGN: This was a single-center, retrospective case review at a university hospital designed to assess the outcome of a new technique for percutaneous osseointegrated implantation in children. MATERIAL: Thirty-four children who had undergone implantation from 2001 to 2012 were included in the study. The 2 groups were divided according to whether skin thinning was used. METHODS: Percutaneous osseointegrated implantation was performed in 1- or 2-step surgeries on patients under general anesthesia. Twenty-three patients were operated with traditional skin thinning and with a 5.5- mm long abutment, 10 patients were operated without thinning and with a 6-, 8.5-, or 9-mm-long abutment, and 1 patient was lost. Primary points of interest were clinical signs and symptoms of inflammation or infection at the site of skin penetration, time required for surgery, healing time, and any additional complications experienced by the patients. RESULTS: The group of children who underwent surgery without thinning and with shorter follow-up time experienced fewer complications, shorter time for surgery, minimized healing time, no numbness, and improved cosmetic appeal in comparison with the group that underwent the traditional skin thinning procedure. CONCLUSION: The percutaneous osseointegrated implantation technique without skin thinning that has recently been implemented in adults is also beneficial for children.