Evaluation of autologous fat grafting in the treatment of juvenile localized scleroderma with facial involvement.

Objectives: The objective of this study was to evaluate the effect of autologous fat grafting in patients with juvenile localized scleroderma with facial involvement.

Methods: We retrospectively studied patients with juvenile localized scleroderma who were followed at the Hamburg Center for Pediatric and Adolescent Rheumatology at least 6 months post-operative follow-up and received at least one autologous fat transplantation for a facial lesion. Autologous fat grafting was conducted independent of disease-modifying treatment and/or disease activity.

Three-dimensional MRI analysis of elbow anatomy and kinematics in children with ulnar dimelia.

Ulnar dimelia often presents with restricted elbow movement. To develop a treatment strategy to improve elbow mobility, a detailed understanding of the skeletal deformity is needed. We created 3-D models of the cartilage and bone in the elbows of four children with ulnar dimelia by segmentation of MRI scans.

Autoantigen-specific CD4 T cells acquire an exhausted phenotype and persist in human antigen-specific autoimmune diseases.

Pro-inflammatory autoantigen-specific CD4 T helper (auto-Th) cells are central orchestrators of autoimmune diseases (AIDs). We aimed to characterize these cells in human AIDs with defined autoantigens by combining human leukocyte antigen (HLA)-tetramer-based and activation-based multidimensional ex vivo analyses. In aquaporin4-antibody-positive neuromyelitis optica spectrum disorder (AQP4-NMOSD) patients, auto-Th cells expressed CD154, but proliferative capacity and pro-inflammatory cytokines were strongly reduced.

Ustekinumab for pyoderma gangrenosum-like skin ulcerations in late-onset leukocyte adhesion deficiency.

Background: Leukocyte adhesion deficiency type 1 (LAD-1) is a congenital immunodeficiency leading to impaired trafficking of neutrophils to inflammation sites. Solitary or multiple pyoderma gangrenosum (PG)-like skin ulcers (PGLUs) have been reported previously in 13 children (aged 0.5-19 years) with LAD-1.

Dupilumab: Two sides of a side-effect.

The purported antiviral effect of dupilumab may be considered a positive side effect. Its mechanism, however, points to an underlying immunomodulation with potentially far-reaching consequences.

Trends in antipsychotic use among children and adolescents in Germany: a study using 2011-2020 nationwide outpatient claims data.

Introduction: We aimed to provide an update on trends in antipsychotic (AP) use among children and adolescents in Germany.

Materials And Methods: Based on nationwide outpatient claims data from Germany, we conducted a cross-sectional study. For each year from 2011 to 2020, we determined the prevalence of AP use, defined as the proportion of children and adolescents with at least one AP dispensation.

Heterotopic respiratory mucosa as a potential source of ectopic Sonic hedgehog (SHH) in the development of complex radial polydactyly and ulnar dimelia.

We report eight cases of complex radial polydactyly and/or ulnar dimelia each with a fistulous lesion of heterotopic respiratory mucosa in radial-anterior skin ranging from shoulder to wrist. Although speculative, the coincidence of these rare conditions suggests a mechanistic relationship.

Ulnar dimelia - a review of 24 cases.

Ulnar dimelia is a very rare unilateral congenital upper limb anomaly (CULA) affecting the whole extremity. Treatment remains difficult because of the complexity and multi-level involvement. Twenty-four cases with duplicated ulna, absent radius and polydactyly from seven European centres were reviewed according to a structured list of parameters.

Short anagen hair syndrome: association with mono- and biallelic variants in WNT10A and a genetic overlap with male pattern hair loss.

Background: Short anagen hair (SAH) is a rare paediatric hair disorder characterized by a short anagen phase, an inability to grow long scalp hair and a negative psychological impact. The genetic basis of SAH is currently unknown.

Objectives: To perform molecular genetic investigations in 48 individuals with a clinical phenotype suggestive of SAH to identify, if any, the genetic basis of this condition.

Expected Basal Insulin Requirement During Continuous Subcutaneous Insulin Infusion Therapy by Age Group, Sex, and Body Mass Index, Based on 25,718 Young People with Type 1 Diabetes in the DPV Registry.

Since the introduction of insulin pumps into the therapy of pediatric subjects, different approaches have been taken to find optimal basal rates. Previously, the DPV registry provided circadian basal rate patterns for different age groups. As the number of pump users has increased recently and short-acting insulin analogues are now predominant, we performed a new analysis with a larger data pool.

State of the art review: The pathogenesis and management of Madelung deformity.

Madelung deformity remains a fascinating yet unresolved challenge. There is an increasing awareness for early diagnosis by healthcare providers with improvement in diagnostic modalities, however, the exact mechanisms for the development of the deformity have still to be clarified. While some corrective procedures have been described to effectively address an established deformity, the existing literature lacks clear and evidence-based treatment guidelines on how to proceed in daily practice.

HOXD13-associated synpolydactyly: Extending and validating the genotypic and phenotypic spectrum with 38 new and 49 published families.

Purpose: HOXD13 is an important regulator of limb development. Pathogenic variants in HOXD13 cause synpolydactyly type 1 (SPD1). How different types and positions of HOXD13 variants contribute to genotype-phenotype correlations, penetrance, and expressivity of SPD1 remains elusive.

Evaluation of a Child-centred Psychosocial Healthcare Intervention (KIDPROTEKT) - Results of a Cluster Randomized Controlled Trial in Paediatric and Gynaecologic Practices.

KID-PROTEKT is a child-centred psychosocial healthcare intervention which aims at improving the identification of psychosocial needs and navigation in the outpatient gynaecologic and paediatric setting. In this cluster randomized-controlled trail we examined the effect of KID-PROTEKT on the referrals (to support services) in comparison to the regular gynaecologic and paediatric outpatient healthcare . A variant based on the qualification of the healthcare providers (qualified treatment, QT) and a variant with social worker (supported treatment, ST) were compared to the regular healthcare (treatment as usual, TAU).

The impact of daily mean air temperature on the proportion of time in hypoglycemia in 2,582 children and adolescents with type 1 diabetes - Is this association clinically relevant?

Objectives: To study the potential association between increases in daily mean air temperature and time below range (TBR <54 mg/dl) and time above range (TAR >250 mg/dl) in children and adolescents with type 1 diabetes.

Research Design And Methods: Individuals with type 1 diabetes <21 years with information on daily glucose profiles from the diabetes prospective follow-up study (DPV) were included (n = 2582). Further inclusion criteria were age at least 6 months at diabetes onset, diabetes duration for at least one year and treatment years 2020-2021.

Psychometric properties of the German teen and parent versions of the Problem Areas in Diabetes Scale (PAID).

The negative impact of psychosocial burden in connection with the treatment of Type 1 diabetes (T1D) indicates the need for regular screening of diabetes distress in adolescents with T1D and their parents. Psychometric properties of the German versions of Problem Areas in Diabetes scale-Teen (PAID-T) and Parent (P-PAID-T) are examined in order to provide a clinical screening tool. Linguistically translated questionnaires were used in a multicenter study with 459 families.

S1 Guideline onychomycosis.

Onychomycosis is a fungal infection of the fingernails and toenails. In Europe, tinea unguium is mainly caused by dermatophytes. The diagnostic workup comprises microscopic examination, culture and/or molecular testing (nail scrapings).

Identification of a novel sporadic U2HR pathogenic variant in a patient with Marie Unna hereditary hypotrichosis.

Marie Unna hereditary hypotrichosis (MUHH) is a rare autosomal dominant hair loss disorder characterized by coarse, wiry, and twisted hair developing during early childhood, and followed by progressive hair loss with puberty. We report a sporadic case of a 4-year-old boy with clinical features suggestive of MUHH, in whom we identified the new pathogenic variant c.67C>T; p.

Understanding Daily, Emotional, and Physical Burdens and Needs of Parents Caring for Children with Type 1 Diabetes.

Aims: To investigate (1) daily, emotional, and physical caregiving burdens in parents of children with type 1 diabetes, (2) the sociodemographic and clinical predictors of three burdens, and (3) support measures that parents wish to receive.

Methods: The study was a multicenter cross-sectional survey conducted in nine German pediatric diabetes centers. A questionnaire assessing three types of burdens and wishes for support was distributed to parents with a child with type 1 diabetes visiting one of the pediatric centers for a routine check-up.

MAP kinase activating death domain deficiency is a novel cause of impaired lymphocyte cytotoxicity.

Most hereditary forms of hemophagocytic lymphohistiocytosis (HLH) are caused by defects of cytotoxicity, including the vesicle trafficking disorder Griscelli syndrome type 2 (GS2, RAB27A deficiency). Deficiency of the mitogen-activated protein kinase activating death domain protein (MADD) results in a protean syndrome with neurological and endocrinological involvement. MADD acts as a guanine nucleotide exchange factor for small guanosine triphosphatases, including RAB27A.

Hereditary fibrosing poikiloderma (POIKTMP syndrome) report of a new mutation and review of the literature.

Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) is a genodermatosis with autosomal dominant inheritance caused by mutations in FAM111B. We report another case with a new pathogenic variant and analyze all previously published 34 cases with a focus on sequence of clinical presentation and genotype-phenotype correlation. POIKTMP is characterized by marked age-dependent clinical expressivity.

Current and future funding streams for paediatric postmortem imaging: European Society of Paediatric Radiology survey results.

Background: Perinatal and childhood postmortem imaging has been accepted as a noninvasive alternative or adjunct to autopsy. However, the variation in funding models from institution to institution is a major factor prohibiting uniform provision of this service.

Objective: To describe current funding models employed in European and non-European institutions offering paediatric postmortem imaging services and to discuss the perceived barriers to future postmortem imaging service provision.