Search results for "multiple"

Orofacial features and medical profile of eight individuals with Kabuki syndrome

2019

Background To evaluate oral, craniofacial and systemic characteristics of eight patients with Kabuki syndrome (KS), aged between 3 and 16 years old. Material and Methods In this retrospective study, medical records of all patients were reviewed for information on family history, growth and development, medications in use, general systemic complications and oral and craniofacial characteristics. Results The medical alterations found included recurrent infections such as pneumonia and otitis media (n = 6), cardiovascular malformations (n = 4), kidney abnormalities (n = 2), epilepsy (n = 2) and visual deficiency (n = 2). The individuals exhibited dental caries (n = 5), agenesis (n = 5), delaye…

Severity of Covid-19 Clinical Outcomes and Mortality in Multiple Myeloma Patients over Year 1 of the Pandemic

2021

Abstract Introduction In the first weeks of the Covid-19 pandemic when healthcare systems in many areas were overstretched, we documented that hospital mortality in multiple myeloma (MM) patients infected by Sars-Cov-2 was 50% higher than in age matched Covid-19 patients without cancer. In the following months, the pressure on healthcare systems in Spain continued although it did not reach the extreme levels of the first weeks of the pandemic. In this study, we proposed to determine if the severity of Covid-19 outcomes in MM patients has changed over the first year of the pandemic. Patients and methods The Spanish MM Collaborative Group (Pethema-GEM) conducted a survey at national level on …

Multiple Sclerosis in Southern Europe: Monreale City, Italy

2004

<i>Background:</i> Several follow-up studies showed increasing prevalence and incidence rates for multiple sclerosis (MS). <i>Objective:</i> To ascertain, throughout a follow-up study, the incidence and prevalence of MS in the city of Monreale, Sicily, southern Italy. <i>Methods:</i> We calculated crude and age- and sex-specific prevalence rates on December 31, 2000, and determined incidence rates for the period January 1, 1992 to December 31, 2000. <i>Results:</i> The prevalence of MS was 71.2 per 100,000 population (48,5/100,000 in men; 93,0/100,000 in women). The incidence rate of MS for the period 1992–2000 was 4.0/100,000 per year. <i&…

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.

Italian consensus recommendations for a biomarker‐based aetiological diagnosis in mild cognitive impairment patients

2019

Background and purpose: Biomarkers support the aetiological diagnosis of neurocognitive disorders in vivo. Incomplete evidence is available to drive clinical decisions; available diagnostic algorithms are generic and not very helpful in clinical practice. The aim was to develop a biomarker-based diagnostic algorithm for mild cognitive impairment patients, leveraging on knowledge from recognized national experts. Methods: With a Delphi procedure, experienced clinicians making variable use of biomarkers in clinical practice and representing five Italian scientific societies (neurology – Società Italiana di Neurologia per le Demenze; neuroradiology – Associazione Italiana di Neuroradiologia; b…

Child with repeated aspiration pneumonia and peculiar face.

1998

Data of safety in a single-center alemtuzumab treated population

2020

Alemtuzumab is approved for highly active MS and, in Europe, can be employed after other disease-modifying treatments (DMTs) as an escalation approach or first therapeutic option. The occurrence of secondary autoimmune adverse events and infections differs depending on the employed approach.In the manuscript entitled “Alemtuzumab treatment of multiple sclerosis in real-world clinical practice: report from a single Italian center” by di Ioia M. and collaborators, efficacy and safety data of alemtuzumab were evaluated in a real-world MS population. The aim of the article is to describe in detail the unexpected serious adverse events which occurred in this cohort during and after the administr…

Prematurity and twinning

2012

Aim of the study: Newborns from multiple pregnancies are increasing in number and demonstrate a higher perinatal morbidity and mortality compared to singletons. Prematurity is the main reason for most neonatal diseases in twins, but other variables may play a role and their prenatal evaluation may improve the overall outcome. Main findings: Prematurity is six times more frequent in twins and therefore birth weight is significantly lower compared to singletons. Thus, twins are more exposed to prematurity related diseases (respiratory, cardiovas- cular, infectious, etc.) and to long-term complications (especially neurological disabilities). Results: It is very difficult to estimate the increa…

Management of multiple pregnancy with an affected twin

2015

Newborns from multiple pregnancies demonstrate a higher perinatal morbidity and mortality compared to singletons. Prematurity is more frequent in twins and therefore birth weight is significantly lower compared to singletons [1]. Thus, twins are more exposed to prema- turity related diseases (respiratory, cardiovascular, infec- tious, etc.) and to long-term complications [2]. It is very difficult to estimate the increased risk of neonatal mor- bidity related to twinning independently to the increased risk of prematurity. Prematurity is the main reason for most neonatal diseases in twins, but other variables may play a role. Fetal growth restriction [3] and congenital malformationsare major …

Rehabilitation in a case of severe osteoporosis with prevalent fractures in a patient known with multiple sclerosis and prolonged glucocorticoid ther…

2021

Introduction. Osteoporosis has a major influence on the quality of life because of its impact on bone strength. Osteoporosis and fractures are frequent in patients with multiple sclerosis, decreased mobility being an important risk factor in these patients. Objectives. This paper presents a case of severe osteoporosis in a patient with multiple sclerosis, to emphasize a correlation between this two pathologies. Material and Methods. We present the case of a female Caucasian patient, aged 65 years, known with progressive multiple sclerosis, on long-term use of glucocorticoids, and severe osteoporosis, who is investigated for mechanical pain and functional deficiency in the lumbar spine and t…