Clinical and genetic spectrum of an orphan disease MPAN: a series with new variants and a novel phenotype

Introduction. Pathogenic variations in C19orf12 are responsible for two allelic diseases: mitochondrial membrane protein-associated neurodegeneration (MPAN); and spastic paraplegia type 43 (SPG43). MPAN is an orphan disease, which presents with spasticity, dystonia, peripheral nerve involvement, and dementia. The pattern of iron accumulation on brain MRI may be a clue for the diagnosis of MPAN. SPG43, on the other hand, is characterised by progressive lower limb spasticity without brain iron accumulation. We here present clinical and genetic findings of MPAN patients with potentially pathogenic C19orf12 variants.Materials and methods. Patients from 13 different families having progressive motor symptoms with irritative pyramidal signs and brain iron accumulation were screened for C19orf12 gene variants.Results. C19orf12 screening identified seven variants associated with MPAN in eight patients from seven families. We associated two pathogenic variants (c.24G > C; p.(Lys8Asn) and c.194G > A; p.(Gly65Glu)) with the MPAN phenotype for the first time. We also provided a genetic diagnosis for a patient with an atypical MPAN presentation. The variant c.32C > T; p.(Thr11Met), common to Turkish adult-onset MPAN patients, was also detected in two unrelated late-onset MPAN patients.Conclusions. Genetic analysis along with thorough clinical analysis supported by radiological findings will aid the differential diagnosis of MPAN within the neurodegeneration with brain iron accumulation spectrum as well as other disorders including hereditary spastic paraplegia. Dystonia and parkinsonism may not be the leading clinical findings in MPAN patients, as these are absent in the atypical case. Finally, we emphasise that the existence of frameshifting variants may bias the age of onset toward childhood

Postantibiotic Effects of Tigecycline, Colistin Sulfate, and Levofloxacin Alone or Tigecycline-Colistin Sulfate and Tigecycline-Levofloxacin Combinations against Acinetobacter baumannii

Background: Colistin sulfate and levofloxacin, alone and in combination with tigecycline, were investigated for their in vitro activities and postantibiotic effects (PAEs) on 6 meropenem-resistant Acinetobacter baumannii. Methods: The in vitro activities of colistin sulfate and levofloxacin in combination with tigecycline were determined using a microbroth checkerboard technique. The results were interpreted based on the fractional inhibitory concentration index. To determine the PAEs, A. baumannii strains in the logarithmic phase of growth were exposed for 1 h to antibiotics, alone and in combination. Recovery periods of test cultures were evaluated using viable counting after centrifugation. Results: One synergistic interaction was observed for each of the tigecycline-colistin sulfate and tigecycline-levofloxacin combinations. Colistin sulfate produced a strong PAE ranging from 2.50 to 7.0 h in a concentration-dependent manner. PAEs were induced by levofloxacin (ranging from 0.35 to 2.45 h) and tigecycline (ranging from 0.05 to 1.40 h). In combination, tigecycline slightly changed the PAE of colistin sulfate and levofloxacin against the studied strains. Conclusion: This study's findings could have important implications for the timing of doses during antimicrobial therapy with tigecycline, colistin sulfate, and levofloxacin alone and in combination. copyright (C) 2010 S. Karger AG, Base

Which parents dropout from an evidence-based parenting programme (Triple-P) at CAMHS? Comparison of programme-completing and dropout parents

Evidence-based parenting programmes are beneficial for children's behavioural and emotional problems as well as parenting practices. Along with effectiveness, attendance affects the programme outcome and identification of risks associated with dropout may aid in development of special policy to increase engagement. In this study, we aimed to compare sociodemographics, parental attitudes, child behavioural and emotional problems of programme-completing and dropout parents from Level-4 Triple-P parenting programme applied at Child and Adolescent Mental Health Services (CAMHS). We also aimed to determine the attrition rate. In addition, we inquired whether there was a change in parenting styles and child behaviour and emotional problems before and after Level-4 Triple-P for the programme-completing parents at CAMHS. Results displayed that 52% (n = 58) of the parents who were significantly less educated, used hostile rejecting attitudes, and reported more hyperactive/inattentive behaviour in their children compared to the parents who competed the programme (p = 0.022, p = 0.016, p = 0.027, respectively) discontinued the programme. Parents who were able to complete the programme (n = 54) reported a reduction in over-parenting and improvements in children's conduct problems along with overall stress levels before and after Triple-P (p = 0.009, p = 0.040, p = 0.023). Parents at risk of discontinuing parenting programmes may require special policy to be engaged since these programmes may offer significant benefits for parenting practices and, in turn, children's well-being

Factors affecting improvement of children and adolescents who were treated in the child and adolescent psychiatry inpatient unit

Objective This study aimed to assess the correlates and predictors of improvement in general functioning of children and adolescents who are treated in the child and adolescent psychiatry (CAMHS) inpatient unit

Child and Adolescent Mental Health Inpatient Services in Turkey: Is There a Need and Are They Effective?

Objective: Inpatient care is the most widely used intensive care component of child and adolescent mental health services (CAMHS) internationally. In some studies, child and adolescent inpatient care has been shown to be effective and remains a neccesary function of a comprehensive child and adolescent mental health service. Our aim is to examine the treatment outcome of our newly opened CAMHS inpatient unit in terms of patients functioning levels via key variables which were measured at two time periods, namely (i) at admission to the unit and (ii) at discharge

How Long Does the Recovery Last with Inpatient Treatment of Child and Adolescents?

Objective: Although it is widely accepted that inpatient psychiatric treatment of children and adolescents is effective, it is also essential to evaluate its effectiveness by assessing the treatment compliance following discharge and the persistence of treatment effects in the long run. The aim of this study is to assess the effectiveness of inpatient treatment provided in one of the rare units in our country via evaluation of the achievement of treatment goals, changes in risk assessment scores, treatment compliance following discharge, and psychological functioning as reflected in the current relationships with the family, peers and school

Physical Fitness and Dynamic Balance in Medication Naive Turkish Children with ADHD

This study investigated physical fitness levels and dynamic balance in medication-naive children with Attention-Deficit/Hyperactivity Disorder (ADHD). Participants were 24 medication-naive Turkish children with ADHD (4 girls, 20 boys) and 19 typically developing (TD) Turkish children (4 girls, 15 boys). We measured physical fitness levels with the Eurofit Test Battery, body composition with the Inbody 720 Body Composition Analyzer, cognitive attention with the Stroop Test, and dynamic balance with the Y-Balance Test. We found significantly poorer dynamic balance and both upper extremity and running fitness problems among the medication-naive Turkish children with ADHD compared to the TD group (p = 0.002;p = 0.032;p = 0.002). It may be important to adress dynamic balance and physical fitness when treating children with ADHD

Is Triple P effective in childhood anxiety disorder? A randomized controlled study

OBJECTIVES: Considering the role of parenting in the aetiology and maintenance of anxiety disorders, working with parents is a promising treatment strategy. Triple P-positive parenting programme is a parent-focused cognitive behaviour therapy. In this study, we aimed to investigate the effectiveness of Triple P in improvement in childhood anxiety disorders and also to assess its effects on behavioural and emotional problems, general anxiety level, severity of the disorder, and general psychosocial functioning. Parents' mental health and general well-being were also evaluated

Adjunctive olanzapine treatment in bipolar adolescents responding insufficiently to mood stabilizers - Four case reports

This report was aimed to evaluate the efficacy of olanzapine treatment as an adjunct therapy to mood stabilizers in the treatment of four adolescents responding insufficiently to mood stabilizers. All patients were diagnosed with bipolar I disorder according to DSM IV criteria. YMRS (Young mania rating scale) and CGI (Clinical global impression, improvement and therapeutic effectiveness scales) were used to evaluate overall response of the episode to the drugs. All patients with no adequate response to mood stabilizers did respond to adjunctive olanzapine treatment (10-30 mg/per day). It has been suggested that antipsychotics may be useful as an adjunct to mood stabilisers in bipolar disorder. However, further research is warranted regarding the use of atypical antipsychotics in children and adolescents

Is Triple P Positive Parenting Program Effective on Anxious Children and Their Parents? 4th Month Follow up Results

The aim of this study is to evaluate the effectiveness of Triple P Positive Parenting Program, which has been shown to be effective in reducing children's behavior problems in a variety of populations, on childhood anxiety disorders. This is an open-labelled continuation study of the randomized, single-blinded, controlled trial which is done 4 months after the intervention. A total of 50 subjects ages between 8 and 12 diagnosed with anxiety disorder were enrolled to the open-labelled phase of the study. The two groups were compared right before and 4 months after the implementation with various questionnares which measured the children's amotional and behavioral problems and anxiety severity and parental general well being and axiety were also evaluated. Children's general anxiety level and anxiety disorder severity of intervention group were significantly lower than waiting list group. In this study, it is shown that parental anxiety and general well being were also improved. Our results suggest that Triple P may be an effective and useful method of treatment for anxious children. Large sample sized studies are needed