Background: The multifactoriality of Anorexia Nervosa (AN) and the specificity of the treatment that provides for the compliance of parents (caregivers) is consolidated in the scientific literature. ...Caregivers’ burden, in addition to negatively affecting parents’ Quality of Life (QoL), can act as a maintenance factor for the disorder itself. Aim: Within a much broader research project, this work focuses on a preliminary analysis of the presence and level of burden in couples of parents of adolescents with Eating Disorders (EDs) and related variables. Methods: At a clinic dedicated to EDs, three couples of parents (mean age = 47.50; SD = 2.73) of three female patients with AN (mean age = 16; SD = 1.78), prior to taking charge, which includes protocol, psychoeducation, and family psychotherapy meetings. Caregivers completed a questionnaire consisting of standardized screening tests for assessing psychological assets: (a) Depression Anxiety Stress Scale-21 (DASS-21), (b) Family Strain Questionnaire—Short Form (FSQ-SF), (c) Resilience Scale (RS), and (d) semi-structured interview. Results: High levels of anxiety (18 ± 6.9), stress (13.33 ± 10.26), and depression (12 ± 6.9) are found in mother caregivers, while father caregivers are more resilient (57.33 ± 8.5). A high level of caregivers’ burden was associated with being unemployed (3.33 ± 2.51), being a mother (4.33 ± 1.52), and with a highly pathological patient to care for (3 ± 4.24). Conclusions: Evaluating family caregivers of ED patients for risk factors of burden allows them to offer care and reduce the perceived stress of care.
Cardiomyopathies are mostly determined by genetic mutations affecting either cardiac muscle cell structure or function. Nevertheless, cardiomyopathies may also be part of complex clinical phenotypes ...in the spectrum of neuromuscular (NMD) or mitochondrial diseases (MD). The aim of this study is to describe the clinical, molecular, and histological characteristics of a consecutive cohort of patients with cardiomyopathy associated with NMDs or MDs referred to a tertiary cardiomyopathy clinic. Consecutive patients with a definitive diagnosis of NMDs and MDs presenting with a cardiomyopathy phenotype were described. Seven patients were identified: two patients with ACAD9 deficiency (
carried the c.1240C>T (p.Arg414Cys) homozygous variant in
;
carried the c.1240C>T (p.Arg414Cys) and the c.1646G>A (p.Ar549Gln) variants in
); two patients with
-related myopathy (
carried the c.1325G>A (p.Arg442His) variant in
;
carried the c.1357C>T (p.Arg453Cys) variant in
); one patient with desminopathy (
carried the c.46C>T (p.Arg16Cys) variant in
); two patients with mitochondrial myopathy (
carried the m.3243A>G variant in
;
carried the c.253G>A (p.Gly85Arg) and the c.1055C>T (p.Thr352Met) variants in
). All patients underwent a comprehensive cardiovascular and neuromuscular evaluation, including muscle biopsy and genetic testing. This study described the clinical phenotype of rare NMDs and MDs presenting as cardiomyopathies. A multidisciplinary evaluation, combined with genetic testing, plays a main role in the diagnosis of these rare diseases, and provides information about clinical expectations, and guides management.
Introduction:
The COVID-19 pandemic has inevitably transformed face-to-face teaching to remote teaching (e-learning or blended) which has had psychological and social impacts on the mental health of ...university students.
Object:
In this study, we surveyed university students with disabilities and specific learning disabilities (SLDs) on their perceptions of and satisfaction with emergency remote teaching (ERT) during the lockdown phase (March–April 2020) and following restrictions due to the COVID-19 pandemic. We compared the responses of students with disabilities and SLDs with those of normotypical students.
Methodology:
A questionnaire was completed remotely: five items on the ERT were designed as ad hoc questions and five items were taken from the Short Form 12 Health Survey (SF-12) to evaluate physical and mental self-perceived health. There was a total of 163 students surveyed, 67 students with disabilities and/or SLDs and 96 normotypical students.
Results and Conclusion:
Students with disabilities and SLDs were more satisfied with remote teaching than the normotypical students. In fact, only 22% of the students with disabilities or SLDs indicated that they were dissatisfied with the teaching method used due to difficulties encountered, including those related to a weak technological infrastructure. We found that among all the students, important social and emotional aspects emerged as a consequence of the absence of interactions and relationships with both faculty and peer groups.
Pompe disease is an autosomal recessive disorder caused by a deficiency in the enzyme acid alpha-glucosidase. The late-onset form of Pompe disease (LOPD) is characterized by a slowly progressing ...proximal muscle weakness, often involving respiratory muscles. In LOPD, the levels of GAA enzyme activity and the severity of the clinical pictures may be highly variable among individuals, even in those who harbour the same combination of
mutations. The result is an unpredictable genotype-phenotype correlation. The purpose of this study was to identify the genetic factors responsible for the progression, severity and drug response in LOPD. We report here on a detailed clinical, morphological and genetic study, including a whole exome sequencing (WES) analysis of 11 adult LOPD siblings belonging to two Italian families carrying compound heterozygous
mutations. We disclosed a heterogeneous pattern of myopathic impairment, associated, among others, with cardiac defects, intracranial vessels abnormality, osteoporosis, vitamin D deficiency, obesity and adverse response to enzyme replacement therapy (ERT). We identified deleterious variants in the genes involved in autophagy, immunity and bone metabolism, which contributed to the severity of the clinical symptoms observed in the LOPD patients. This study emphasizes the multisystem nature of LOPD and highlights the polygenic nature of the complex phenotype disclosed in these patients.
Background: Amyotrophic lateral sclerosis (ALS) is a neuromuscular progressive disorder characterized by limb and bulbar muscle wasting and weakness. A total of 30% of patients present a bulbar ...onset, while 70% have a spinal outbreak. Respiratory involvement represents one of the worst prognostic factors, and its early identification is fundamental for the early starting of non-invasive ventilation and for the stratification of patients. Due to the lack of biomarkers of early respiratory impairment, we aimed to evaluate the role of chest dynamic MRI in ALS patients. Methods: We enrolled 15 ALS patients and 11 healthy controls. We assessed the revised ALS functional rating scale, spirometry, and chest dynamic MRI. Data were analyzed by using the Mann–Whitney U test and Cox regression analysis. Results: We observed a statistically significant difference in both respiratory parameters and pulmonary measurements at MRI between ALS patients and healthy controls. Moreover, we found a close relationship between pulmonary measurements at MRI and respiratory parameters, which was statistically significant after multivariate analysis. A sub-group analysis including ALS patients without respiratory symptoms and with normal spirometry values revealed the superiority of chest dynamic MRI measurements in detecting signs of early respiratory impairment. Conclusions: Our data suggest the usefulness of chest dynamic MRI, a fast and economically affordable examination, in the evaluation of early respiratory impairment in ALS patients.
Thanks to advances in gene sequencing,
-related myopathy (RYR1-RM) is now known to manifest itself in vastly heterogeneous forms, whose clinical interpretation is, therefore, highly challenging. We ...set out to develop a novel unsupervised cluster analysis method in a large patient population. The objective was to analyze the main
-related characteristics to identify distinctive features of RYR1-RM and, thus, offer more precise genotype-phenotype correlations in a group of potentially life-threatening disorders. We studied 600 patients presenting with a suspicion of inherited myopathy, who were investigated using next-generation sequencing. Among them, 73 index cases harbored variants in
. In an attempt to group genetic variants and fully exploit information derived from genetic, morphological, and clinical datasets, we performed unsupervised cluster analysis in 64 probands carrying monoallelic variants. Most of the 73 patients with positive molecular diagnoses were clinically asymptomatic or pauci-symptomatic. Multimodal integration of clinical and histological data, performed using a non-metric multi-dimensional scaling analysis with k-means clustering, grouped the 64 patients into 4 clusters with distinctive patterns of clinical and morphological findings. In addressing the need for more specific genotype-phenotype correlations, we found clustering to overcome the limits of the "single-dimension" paradigm traditionally used to describe genotype-phenotype relationships.
Progressive multifocal leukoencephalopathy (PML) is a demyelinating disease of the central nervous system (CNS) caused by John Cunningham virus lytic infection of the oligodendrocytes, the ...myelin-producing cells in the CNS. Symptoms largely vary depending on location and size of the lesions, and the most frequent clinical presentation is characterized by motor deficits, altered consciousness, gait ataxia, and visual symptoms. Despite limb weakness or hemiparesis as the most frequent presenting symptom, involuntary movement is far less common, and very few cases are described in the literature with focal movement disorders without additional neurologic abnormalities. Here we described a case of PML in a patient treated for non-Hodgkin lymphoma with immunomodulatory chemotherapies who presented with bilateral myoclonus of the upper limbs. This report highlights the importance of considering PML in the differential diagnosis of focal movement disorders and discusses the potential causative mechanism of this atypical presentation.
Neuroacanthocytosis (NA) syndromes are a group of genetically defined diseases characterized by the association of red blood cell acanthocytosis, progressive degeneration of the basal ganglia and ...neuromuscular features with characteristic persistent hyperCKemia. The main NA syndromes include autosomal recessive chorea-acanthocytosis (ChAc) and X-linked McLeod syndrome (MLS). A series of Italian patients selected through a multicenter study for these specific neurological phenotypes underwent DNA sequencing of the
and
genes to search for causative mutations. Where it has been possible, muscle biopsies were obtained and thoroughly investigated with histochemical assays. A total of nine patients from five different families were diagnosed with ChAC and had mostly biallelic changes in the
gene (three nonsense, two frameshift, three splicing), while three patients from a single X-linked family were diagnosed with McLeod syndrome and had a deletion in the
gene. Despite a very low incidence (only one thousand cases of ChAc and a few hundred MLS cases reported worldwide), none of the 8
variants identified in our patients is shared by two families, suggesting the high genetic variability of ChAc in the Italian population. In our series, in line with epidemiological data, McLeod syndrome occurs less frequently than ChAc, although it can be easily suspected because of its X-linked mode of inheritance. Finally, histochemical studies strongly suggest that muscle pathology is not simply secondary to the axonal neuropathy, frequently seen in these patients, but primary myopathic alterations can be detected in both NA syndromes.
Mitochondrial diseases (MDs) are a large group of genetically determined multisystem disorders, characterized by extreme phenotypic heterogeneity, attributable in part to the dual genomic control ...(nuclear and mitochondrial DNA) of the mitochondrial proteome. Advances in next-generation sequencing technologies over the past two decades have presented clinicians with a challenge: to select the candidate disease-causing variants among the huge number of data provided. Unfortunately, the clinical tools available to support genetic interpretations still lack specificity and sensitivity. For this reason, the diagnosis of MDs continues to be difficult, with the new “genotype first” approach still failing to diagnose a large group of patients. With the aim of investigating possible relationships between clinical and/or biochemical phenotypes and definitive molecular diagnoses, we performed a retrospective multicenter study of 111 pediatric patients with clinical suspicion of MD. In this cohort, the strongest predictor of a molecular (in particular an mtDNA-related) diagnosis of MD was neuroimaging evidence of basal ganglia (BG) involvement. Regression analysis confirmed that normal BG imaging predicted negative genetic studies for MD. Psychomotor regression was confirmed as an independent predictor of a definitive diagnosis of MD. The findings of this study corroborate previous data supporting a role for neuroimaging in the diagnostic approach to MDs and reinforce the idea that mtDNA sequencing should be considered for first-line testing, at least in specific groups of children.
Late Onset Pompe Disease (LOPD) is characterized by postural abnormalities mainly due to involvement of paraspinal lumbar and abdominal-pelvic muscles. Previous studies quantitatively analyzed static ...upright posture, spatial-temporal parameters and kinematics of the lower limbs and trunk, considered as single bone segment. Sagittal plane analysis of the spine and whole-body during walking have never been investigated in LOPD patients. The aim of the study was to evaluate sagittal kinematics and imbalance of the spine and whole-body in LOPD patients by 3D-Motion Analysis using an appropriate marker set protocol and introducing innovative kinematic parameters. Seven LOPD siblings were assessed by 3D-Stereophotogrammetry using the DB-Total protocol, which allows to analyze sagittal alignment of whole-body. Fourteen age and sex-matched healthy subjects were used as controls. LOPD group showed a flattening of the spinal curvatures, with a head and neck posteriorization respect to sacrum, a significant increase of concavity in Heel-S2-Nasion/C7 angles, a rear-position of upper limbs respect to pelvis, a shorter pendular activity and a trend of elbow extension during ambulation. Moreover, a significant increase of Excursion Range in most of sagittal parameters was found. The present study highlighted a specific pathological postural pattern, resembling "back falling man", which reveals a biomechanical compensation strategy of LOPD patients to maintain the balance against the instability of spinopelvic region, kinematically verified by increase of the Excursion Ranges. DB-Total kinematic parameters might be useful for functional evaluation and for monitoring response to Enzyme Replacement Therapy, rehabilitation project and disease progression.
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