Search results for "disability"

Cerebral White Matter Lesions and Dysmorphisms: Signs Suggestive of 6p25 Deletion Syndrome—Literature Review

2019

AbstractDeletion of the region including chromosome 6p25 has been defined as a syndrome, with more than 68 reported cases. Individuals affected by the syndrome exhibit variable findings, including developmental delay and intellectual disability, cardiac anomalies, dysmorphic features, and—less commonly—skeletal and renal malformations. Ocular and hearing abnormalities are the most notable presenting features. The region encompasses more than 15 genes, of which the FOX group is the most likely causal factor of the clinical manifestations. We report the case of a 2-year-old child with developmental delay, generalized hypotonia, facial dysmorphism, and anomalies involving malformations of the …

Multimodal quantitative MRI assessment of cortical damage in relapsing-remitting multiple sclerosis

2016

Purpose To investigate magnetization transfer ratio (MTR), T1 relaxation time, and proton density (PD) as indicators of gray matter damage in relapsing-remitting multiple sclerosis (RRMS), reflecting different aspects of microstructural damage and as imaging correlates of clinical disability. We aimed to determine which of these parameters may optimally quantify cortical damage, and serve as an imaging surrogate of clinical disability. In this study, cortical values of MTR, a surrogate for demyelination in MS, of PD, reflecting replacement of neural tissue by water, and of T1 , indicating a complex array of microstructural changes, were assessed in a group of RRMS patients in comparison to …

The multifaceted spectrum of liver cirrhosis in older hospitalised patients: Analysis of the REPOSI registry

2021

Abstract Background Knowledge on the main clinical and prognostic characteristics of older multimorbid subjects with liver cirrhosis (LC) admitted to acute medical wards is scarce. Objectives To estimate the prevalence of LC among older patients admitted to acute medical wards and to assess the main clinical characteristics of LC along with its association with major clinical outcomes and to explore the possibility that well-distinguished phenotypic profiles of LC have classificatory and prognostic properties. Methods A cohort of 6,193 older subjects hospitalised between 2010 and 2018 and included in the REPOSI registry was analysed. Results LC was diagnosed in 315 patients (5%). LC was ass…

Pediatric Chronic Migraine Severity and Maternal Stress

2021

Primary headache is an increasing phenomenon in pediatric age, and very often, it causes disabling limitations in children’s daily activities, negatively affecting family well-being. There are conflicting data in the literature on the impact of children’s migraines on parental experienced stress. This study aimed to evaluate maternal stress in a sample of school-aged children with a migraine without aura (MwoA) and its correlation with migraine intensity and frequency. A total of 474 mothers aged between 31 and 55 participated in the study: 237 were mothers of children with MwoA, and 237 were mothers of typical developing children. All participants were administered the Parent Stress Index-…

Patient with Kabuki syndrome and acute leukemia

2003

Kabuki syndrome is a multiple congenital anomaly/mental retardation syndrome which often involves recurrent infections. There is cumulative evidence of an immunodeficiency in Kabuki patients. We report a 2-year-old girl with typical Kabuki syndrome, who developed acute lymphocytic leukemia. The patient showed low levels of immunoglobulins G and A and a history of recurrent infections, that might indicate an immunodeficiency leading to an increased susceptibility to cancer. The girl was treated according to BFM protocols adapted to the patient's impaired cardiac situation and severe underweight. She achieved continual complete remission. Classical and molecular cytogenetic analyzes did not d…

Clinicopathological conference: an adolescent girl with severe mental impairment and mucopolysacchariduria.

1985

Electroclinical features and outcome of ANKRD11-related KBG syndrome: A novel report and literature review.

2021

KBG syndrome (OMIM #148050) is a rare autosomal dominant disorder, typically characterized by macrodontia of the upper central incisors, distinct craniofacial findings, short stature, and skeletal anomalies associated with neurological involvement including intellectual disability, behaviour difficulties, and epilepsy. KBG syndrome is associated with mutations in ANKRD11 gene that plays a chromatin regulator role of histone acetylation and gene expression during neurogenesis in the embryonic brain.

Visuomotor competencies and primary monosymptomatic nocturnal enuresis in prepubertal aged children

2013

Maria Esposito,1 Beatrice Gallai,2 Lucia Parisi,3 Michele Roccella,3 Rosa Marotta,4 Serena Marianna Lavano,4 Giovanni Mazzotta,5 Giuseppina Patriciello,1 Francesco Precenzano,1 Marco Carotenuto1 1Clinic of Child and Adolescent Neuropsychiatry, Department of Mental Health, Physical and Preventive Medicine, Second University of Naples, Italy; 2Unit of Child and Adolescent Neuropsychiatry, University of Perugia, Italy; 3Child Neuropsychiatry, Department of Psychology, University of Palermo, Italy; 4Department of Psychiatry, "Magna Graecia" University of Catanzaro, Catanzaro, Italy; 5Unit of Child and Adolescent Neuropsychiatry, AUSL Umbria 2, Terni, Italy Background: Primary …

PURA- Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum

2021

Background and ObjectivesPurine-rich element-binding protein A (PURA) gene encodes Pur-α, a conserved protein essential for normal postnatal brain development. Recently, a PURA syndrome characterized by intellectual disability, hypotonia, epilepsy, and dysmorphic features was suggested. The aim of this study was to define and expand the phenotypic spectrum of PURA syndrome by collecting data, including EEG, from a large cohort of affected patients.MethodsData on unpublished and published cases were collected through the PURA Syndrome Foundation and the literature. Data on clinical, genetic, neuroimaging, and neurophysiologic features were obtained.ResultsA cohort of 142 patients was include…

Long-term disability trajectories in relapsing multiple sclerosis patients treated with early intensive or escalation treatment strategies

2021

Background and aims: No consensus exists on how aggressively to treat relapsing–remitting multiple sclerosis (RRMS) nor on the timing of the treatment. The objective of this study was to evaluate disability trajectories in RRMS patients treated with an early intensive treatment (EIT) or with a moderate-efficacy treatment followed by escalation to higher-efficacy disease modifying therapy (ESC). Methods: RRMS patients with ⩾5-year follow-up and ⩾3 visits after disease modifying therapy (DMT) start were selected from the Italian MS Registry. EIT group included patients who received as first DMT fingolimod, natalizumab, mitoxantrone, alemtuzumab, ocrelizumab, cladribine. ESC group patients rec…