The impact of catastrophic events on the sex ratio at birth: A systematic review.

Objective: The impact of maternal stress on birth outcomes is well established in the scientific research. The sex ratio at birth (SRB), namely the ratio of male to female live births, shows significant alteration when mothers experience acute stress conditions, as proposed by the Trivers-Willard Hypothesis. We aimed to synthetize the literature on the relationship between two exogenous and catastrophic stressful events (natural disasters and epidemics) and SRB.

Perspective: Is therapeutic plasma exchange a viable option for treating Alzheimer's disease?

Therapeutic plasma exchange, consisting of removing blood plasma and exchanging it with donated blood products, has been proposed for treating Alzheimer's disease (AD) to remove senescent or toxic factors. In preclinical studies, administration of plasma from young healthy mice to AD transgenic mice improved cognitive deficits without affecting brain amyloid plaques. Initial encouraging results have been collected in a double-blind, placebo-controlled study in nine AD patients receiving young plasma.

Combination therapy in a patient with chronic neuronopathic Gaucher disease: a case report.

Background: The variants of neuronopathic Gaucher disease may be viewed as a clinical phenotypic continuum divided into acute and chronic forms. The chronic neuronopathic form of Gaucher disease is characterized by a later onset of neurological symptoms and protracted neurological and visceral involvement. The first-choice treatment for nonneuronopathic Gaucher disease is enzyme replacement therapy with recombinant analogues of the deficient human enzyme glucocerebrosidase.

Norrbottnian clinical variant of Gaucher disease in Southern Italy.

The Norrbottnian type of Gaucher disease (GD), as described many years ago, is due to a unique neuronopathic variant (c.1448T>G; L444P) that may have appeared during or before the sixteenth century in northern Sweden. It is a well-defined nosological entity with a characteristic course of clinical manifestations.

Pain Assessment in Elderly with Behavioral and Psychological Symptoms of Dementia.

Background: Pain is under-detected and undertreated in people with dementia. The present study investigates the prevalence of pain in people with dementia hospitalized in nursing homes that are members of National Association of Third Age Residences (ANASTE) Calabria, and evaluates the association among pain, mood, and behavioral and psychological symptoms of dementia (BPSD).

Objective: The aim of this study is to define the prevalence of pain in people with dementia in long term care facilities using scales of self-reporting and observational tools and, particularly, to study the relationship between pain and BPSD.

The proteome of cblC defect: in vivo elucidation of altered cellular pathways in humans.

Methylmalonic acidemia with homocystinuria, cobalamin deficiency type C (cblC) (MMACHC) is the most common inborn error of cobalamin metabolism. Despite a multidrug treatment, the long-term follow-up of early-onset patients is often unsatisfactory, with progression of neurological and ocular impairment. Here, the in-vivo proteome of control and MMACHC lymphocytes (obtained from patients under standard treatment with OHCbl, betaine, folate and L-carnitine) was quantitatively examined by two dimensional differential in-gel electrophoresis (2D-DIGE) and mass spectrometry.

Relationship between cognitive impairment and nutritional assessment on functional status in Calabrian long-term-care.

Objective: The interaction between dementia and nutritional state is very complex and not yet fully understood. The aim of the present study was to assess the interaction between cognitive impairment and nutritional state in a cohort of residential elderly in relationship with functional condition of patients and their load of assistance in long-term-care facilities of the National Association of Third Age Structures (ANASTE) Calabria.

Methods: One hundred seventy-four subjects (122 female and 52 male) were admitted to the long-term-care ANASTE Calabria study.

Home treatment in paediatric patients with Hunter syndrome: the first Italian experience.

Hunter syndrome (mucopolysaccharidosis type II [MPS II], OMIM309900) is a rare X-linked lysosomal storage disorder caused by the deficiency of the enzyme iduronate-2-sulphatase, resulting in accumulation of glycosaminoglycans, progressive multisystem organ failure, and early death. Enzyme replacement therapy (ERT) with weekly intravenous infusions of idursulfase, a treatment for MPS II and commercially available since 2007, has been shown to improve certain symptoms and signs of the disease. The efficacy and safety data of this enzyme preparation have been widely reported and, after a change to the idursulfase Summary of Product Characteristics in March 2010, home ERT by infusion is now an option for selected patients.

Myoglobinuria as first clinical sign of a primary alpha-sarcoglycanopathy.

Unlabelled: Myoglobinuria is a frequent complication of metabolic myopathies and may also occur in Duchenne and Becker dystrophies but is not a typical sign of limb-girdle muscular dystrophy. We describe an unusual presentation of alpha-sarcoglycanopathy with myoglobinuria at the onset of the disease. The boy presented an episode of dark urine, identified as presence of blood by a urine dipstick, occurred 10 days after an episode of fever and sore throat treated with antibiotics.

Efficacy of miglustat in Niemann-Pick C disease: a single centre experience.

Niemann-Pick disease type C (NPC) is a lysosomal storage disease characterized by progressive neurological degeneration. Miglustat is the first approved specific therapy and its efficacy in stabilizing or slowing disease progression has been demonstrated in previous studies. We evaluated data from 10 NPC patients treated with Miglustat in a single study centre.

Glutathione: a redox signature in monitoring EPI-743 therapy in children with mitochondrial encephalomyopathies.

Background: Genetically defined Leigh syndrome (LS) is a rare, fatal inherited neurodegenerative disorder that predominantly affects children. Although mitochondrial dysfunction has clearly been associated with oxidative stress, few studies have specifically examined Leigh syndrome patients' blood glutathione levels. In this study, we analyzed the balance between oxidized and reduced glutathione in lymphocytes of 10 patients with genetically confirmed LS and monitored the effects of glutathione status following 6 months of treatment with EPI-743, a novel redox therapeutic.

Anderson-Fabry disease in children.

Although clinical evidence of major organ damage is typical of adulthood, many of the signs and symptoms of Anderson Fabry Disease (AFD) occur frequently in childhood. The clinical phenotype of AFD in pediatric patients has been described in several studies which show a higher incidence and an earlier onset of symptoms in male patients than in females. These include neurological manifestations (acroparaesthesias, chronic neuropathic pain, hypo-anhidrosis, tinnitus, hearing, loss), gastrointestinal (GI) symptoms (abdominal pain and diarrhea), angiokeratomas, ocular abnormalities (cornea verticillata, tortuous retinal vessels and subcapsular cataracts).

A clinical study of an electronic constant force periodontal probe.

Automated probing systems have been developed to provide a more precise method of evaluating periodontal pocket depths and attachment levels. The purpose of this study was to assess the clinical performance (reproducibility, time, and comfort) of a new electronic probe (E.P.

Full dentition periodontal surgery using intravenous conscious-sedation. A report of 10,000 cases.

In 1980 Ceravolo, et al, reported the results of 5200 cases of periodontal surgery performed in dental offices on patients while under conscious sedation. In no instance was a major complication noted. Successful case management coupled with a high degree of patient acceptance prompted the authors to continue to perform full dentition periodontal surgery with the aid of conscious sedation plus local anesthesia.

Full dentition periodontal surgery utilizing intravenous conscious-sedation. A report of 5200 cases.

A brief survey of the techniques of intravenous conscious-sedation for full dentition, all inclusive periodontal surgery is presented as used for 5200 patients. Diazepam, meperidine, and methohexital were employed in 3700 cases while diazepam plus methohexital was used in the remaining 1500 cases. Local infiltration and nerve block anesthesia were employed in all of the cases.