Evaluation of the Accuracy of Current Tubeless Pumps for Continuous Subcutaneous Insulin Infusion.

Recently two new tubeless pumps for insulin therapy were introduced. They were tested for accuracy and occlusion detection and compared with the established patch pump Omnipod (OP). Using a modified setup for tubeless pumps based on IEC 60601-2-24, the basal rate and bolus delivery of the Accu-Chek Solo micropump system (ACS) and the A6 TouchCare System (A6) were measured with a microgravimetric method.

Clinical spectrum and treatment outcome of 95 children with continuous spikes and waves during sleep (CSWS).

Objective: Continuous spikes and waves during sleep (CSWS) is an epileptic encephalopathy characterized by generalised epileptiform activity and neurocognitive dysfunction. Causes and outcome are diverse and treatment is mainly empirical.

Methods: Retrospective descriptive analysis of clinical and EEG data of children with CSWS diagnosed between 1998 and 2018 at the University Hospital Heidelberg.

[Disability Rating in Children and Adolescents with Chronic Myeloid Leukemia].

Background: CML comprises only 2-3% of all diagnosed pediatric leukemias. Mostly diagnosed in chronic phase (CML-CP), the disease progresses without treatment to accelerated phase (CML-AP) and finally to life-limiting blastic phase (CML-BP). Contrasting the therapy of other leukemia types, CML-CP is not treated by intense chemotherapy but with oral drugs -termed tyrosine kinase inhibitors (TKI)- for an unlimited duration.

Severe neurological outcomes after very early bilateral nephrectomies in patients with autosomal recessive polycystic kidney disease (ARPKD).

To test the association between bilateral nephrectomies in patients with autosomal recessive polycystic kidney disease (ARPKD) and long-term clinical outcome and to identify risk factors for severe outcomes, a dataset comprising 504 patients from the international registry study ARegPKD was analyzed for characteristics and complications of patients with very early (≤ 3 months; VEBNE) and early (4-15 months; EBNE) bilateral nephrectomies. Patients with very early dialysis (VED, onset ≤ 3 months) without bilateral nephrectomies and patients with total kidney volumes (TKV) comparable to VEBNE infants served as additional control groups. We identified 19 children with VEBNE, 9 with EBNE, 12 with VED and 11 in the TKV control group.

The impact of gender, puberty, and pregnancy in patients with POLG disease.

Objective: To study the impact of gender, puberty, and pregnancy on the expression of POLG disease, one of the most common mitochondrial diseases known.

Methods: Clinical, laboratory, and genetic data were collected retrospectively from 155 patients with genetically confirmed POLG disease recruited from seven European countries. We used the available data to study the impact of gender, puberty, and pregnancy on disease onset and deterioration.

Impact of Fast-Acting Insulin Aspart on Glycemic Control in Patients with Type 1 Diabetes Using Intermittent-Scanning Continuous Glucose Monitoring Within a Real-World Setting: The GoBolus Study.

The GoBolus study investigated the real-world effectiveness of faster aspart in patients with type 1 diabetes (T1D) using intermittent-scanning continuous glucose monitoring (iscCGM) systems. This 24-week, multicenter, single-arm, noninterventional study investigated adults with T1D (HbA, 7.5%-9.

Supervised Speaker Diarization Using Random Forests: A Tool for Psychotherapy Process Research.

Speaker diarization is the practice of determining who speaks when in audio recordings. Psychotherapy research often relies on labor intensive manual diarization. Unsupervised methods are available but yield higher error rates.

How to diagnose and classify idiopathic (genetic) generalized epilepsies.

Idiopathic or genetic generalized epilepsies (IGE) constitute an electroclinically well-defined group that accounts for almost one third of all people with epilepsy. They consist of four well-established syndromes and some other rarer phenotypes. The main four IGEs are juvenile myoclonic epilepsy, childhood absence epilepsy, juvenile absence epilepsy and IGE with generalized tonic-clonic seizures alone.

Homozygous TAF1C variants are associated with a novel childhood-onset neurological phenotype.

TATA-box binding protein associated factor, RNA polymerase I subunit C (TAF1C) is a component of selectivity factor 1 belonging to RNA polymerase I (Pol I) transcription machinery. We report two unrelated patients with homozygous TAF1C missense variants and an early onset neurological phenotype with severe global developmental delay. Clinical features included lack of speech and ambulation and epilepsy.

Insulin Pump Therapy for Patients With Type 2 Diabetes Mellitus: Evidence, Current Barriers, and New Technologies.

An increasing number of patients with type 2 diabetes mellitus (T2DM) use insulin pumps. The first insulin pumps especially designed for patients with T2DM have recently become available. However, national guidelines do not primarily recommend the use of continuous subcutaneous insulin infusion (CSII) for this patient group.

Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases.

Background: Variants in POLG are one of the most common causes of inherited mitochondrial disease. Phenotypic classification of POLG disease has evolved haphazardly making it complicated and difficult to implement in everyday clinical practise. The aim of our study was to simplify the classification and facilitate better clinical recognition.

Retrospectively diagnosing congenital cytomegalovirus infections in symptomatic infants is challenging.

Aim: Our aim was to analyse the diagnostic workup of hospitalised infants with symptoms of congenital cytomegalovirus (CMV) infections.

Methods: This retrospective study was carried out at the University Hospital Frankfurt, Germany, from 2008 to 2017 on infants aged 4 weeks to 12 months presenting with neurological symptoms consistent with congenital CMV infections.

Results: We studied 117 infants, and workup data for CMV infections were available for 84%.

The risk of mental disorders in patients with disorders/differences of sex differentiation/development (DSD) and Y chromosome.

Introduction: Patients with disorders/differences of sex differentiation/development (DSD) are exposed to physical and mental suffering. The aim of the study was to assess the following: the mental health status and the risk of mental problems in adult DSD patients, their dependence on therapeutic procedures, and to identify groups of disorders that require particular psychological support.

Material And Methods: The study involved 59 patients with DSD (gonadal dysgenesis - GD, androgen insensitivity syndrome - AIS, 5-alpha reductase deficiency, ovotestis), and with the Y chromosome in the karyotype, aged 16-65 years.

Nine-year overview of dyslipidemia management in children with heterozygous familial hypercholesterolemia: a university hospital outpatient lipid clinic project in Northwestern Greece.

Background To assess the efficacy and safety of lipid-lowering treatment in children with heterozygous familial hypercholesterolemia (HeFH) aged ≤12 years attending a tertiary hospital-based outpatient lipid clinic. Methods Data in 318 children from the University Hospital of Ioannina (Northwestern Greece) Outpatient Lipid Clinic Project for Children and Adolescents with Dyslipidemia from March 2009 to December 2018 were analyzed. We assessed the efficacy and safety treatment alongside any possible predictors of the achievement of the treatment target.

Intermittent Use of Continuous Glucose Monitoring: Expanding the Clinical Value of CGM.

In addition to the continuous use, the intermittent use of continuous glucose monitoring (CGM) is an application of CGM, expanding the typical medical use cases. There are a variety of reasons and occasions that speak in favor of using CGM only for a limited time. To date, these circumstances have not been sufficiently discussed.

Accuracy assessment of bolus and basal rate delivery of different insulin pump systems used in insulin pump therapy of children and adolescents.

Background: Continuous subcutaneous insulin infusion (CSII) is commonly used in patients with diabetes. Accurate and reliable delivery by insulin pumps is essential for a safe and effective therapy, particularly when using small doses. In this study, accuracy of bolus and basal rate delivery of various available insulin pumps was evaluated.

A systematic review on the burden of illness in individuals with tuberous sclerosis complex (TSC).

Objective: This review will summarize current knowledge on the burden of illness (BOI) in tuberous sclerosis complex (TSC), a multisystem genetic disorder manifesting with hamartomas throughout the body, including mainly the kidneys, brain, skin, eyes, heart, and lungs.

Methods: We performed a systematic analysis of the available literature on BOI in TSC according to the PRISMA guidelines. All studies irrespective of participant age that reported on individual and societal measures of disease burden (e.

Management of adults and children undergoing chimeric antigen receptor T-cell therapy: best practice recommendations of the European Society for Blood and Marrow Transplantation (EBMT) and the Joint Accreditation Committee of ISCT and EBMT (JACIE).

Chimeric antigen receptor (CAR) T cells are a novel class of anti-cancer therapy in which autologous or allogeneic T cells are engineered to express a CAR targeting a membrane antigen. In Europe, tisagenlecleucel (Kymriah™) is approved for the treatment of refractory/relapsed acute lymphoblastic leukemia in children and young adults as well as relapsed/refractory diffuse large B-cell lymphoma, while axicabtagene ciloleucel (Yescarta™) is approved for the treatment of relapsed/refractory high-grade B-cell lymphoma and primary mediastinal B-cell lymphoma. Both agents are genetically engineered autologous T cells targeting CD19.

Clinical Recommendations for the Use of the Ambulatory Glucose Profile in Diabetes Care.

Background: The ambulatory glucose profile (AGP) uses the wealth of data that are generated by continuous glucose monitoring, including flash glucose monitoring technologies, to provide a visual representation of glucose levels over a typical standard day of usually the most recent two weeks for a person with diabetes and helps to identify patterns and trends in glucose control. The AGP allows certain patterns of glucose levels to be identified and analyzed, such that treatment adjustments can be made, and new individual treatment goals can be defined. This helps to ensure increased treatment satisfaction and adherence, quality of life, and an improvement in metabolic management for people with diabetes.

Cannabidiol Interacts Significantly with Everolimus-Report of a Patient with Tuberous Sclerosis Complex.

A 6.5-year-old female patient with a TSC2 mutation had been given everolimus (EVE) for 3 years for pharmacoresistant focal epilepsy and for life-threatening, severe ventricular dysrhythmia. EVE had been started with daily dose of 0.

Correction: Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.