A novel p.Gly417Valfs*12 mutation in the MTTP gene causing abetalipoproteinemia: Presentation of the first patient in Mexico and analysis of the previously reported cases

BackgroundOur aims were to describe the first Mexican patient with abetalipoproteinemia and to perform a comparative analysis of biochemical, clinical, and genetic characteristics of 100 cases reported in the literature.MethodsWe performed biochemical and molecular screenings in a Mexican girl with extremely low lipid levels and in her family. Further, we integrated and evaluated the characteristics of the cases with abetalipoproteinemia described in the literature.ResultsOur patient is a six‐year‐old girl who presented vomiting, chronic diarrhea, failure to thrive, malabsorption, acanthocytosis, anemia, transaminases elevation, and extremely low lipid levels. MTTP gene sequencing revealed homozygosity for a novel mutation p.Gly417Valfs*12 (G deletion c.1250). With the analysis of the reported cases, 60 clinical features (14 classical and 46 non‐classical) were observed, being the most common acanthocytosis (57.5%), malabsorption (43.7%), and diarrhea (42.5%); 48.8% of the patients presented only classic clinical features, while the remaining 51.2% developed secondary effects due to a fat‐soluble vitamin deficiency. An odds ratio analysis disclosed that patients diagnosed after 10 years of age have an increased risk for presenting clinical complications (OR = 18.0; 95% CI 6.0‐54.1, p < 0.0001). A great diversity of mutations in MTTP has been observed (n = 76, being the most common p.G865X and p.N139_E140) and some of them with possible residual activity.ConclusionThe first Mexican patient with abetalipoproteinemia presents a novel MTTP mutation p.Gly417Valfs*12. Three factors that could modulate the phenotype in abetalipoproteinemia were identified: age at diagnosis, treatment, and the causal mutation.     

A Web-Based Survey of Oculoplastic Surgeons Regarding the Management of Lower Lid Retraction

Purpose: To survey the opinion of oculoplastic surgeons on the assessment and management of lower eyelid retraction (LLR).

Methods: A web-based survey queried oculoplastic surgeon members of Ojoplast, Spanish and Brazilian Oculoplastic Societies on the management of LLR. The frequency and percentage proportions of the responses were analyzed.

Results: One hundred ninety-six oculoplastic surgeons participated in the survey. The main cause of LLR is post-blepharoplasty (62;31.6%). The most used sign to detect LLR is scleral show. The most common approaches to managing LLR are lateral canthal surgery (164/593;27.6%), autogenous spacers (148/593; 24.9%) and retractor release (131/593;22.1%). The preferred autogenous graft material includes ear cartilage (102/260;39.2%). The majority of surgeons (161/314; 51.3%) recommend massage or steroids injection (80/314;25.5%) for early post-blepharoplasty LLR, while, 54.1% (106/196) of participants suggested waiting for at least six months prior to surgical intervention. Frost suture is used after most LLR surgeries (154/196;91.1%). Incomplete correction is the main complication (111/310;35.8%) of LLR surgery. For mild LLR, 48% of the responders prefer clinical treatment; conversely, severe cases routinely require combined surgical techniques.

Conclusions: Oculoplastic surgeons frequently diagnose LLR based on scleral show. LLR management depends on the cause and severity of lid retraction. Mild cases, in general, receive clinical treatment and severe cases need a combination of surgical techniques and grafts.     

Software Architecture for Smart Emotion Recognition and Regulation of the Ageing Adult

This paper introduces the architecture of an emotion-aware ambient intelligent and gerontechnological project named “Improvement of the Elderly Quality of Life and Care through Smart Emotion Regulation”. The objective of the proposal is to find solutions for improving the quality of life and care of the elderly who can or want to continue living at home by using emotion regulation techniques. A series of sensors is used for monitoring the elderlies’ facial and gestural expression, activity and behaviour, as well as relevant physiological data. This way the older people’s emotions are inferred and recognized. Music, colour and light are the stimulating means to regulate their emotions towards a positive and pleasant mood. Then, the paper proposes a gerontechnological software architecture that enables real-time, continuous monitoring of the elderly and provides the best-tailored reactions of the ambience in order to regulate the older person’s emotions towards a positive mood. After describing the benefits of the approach for emotion recognition and regulation in the elderly, the eight levels that compose the architecture are described.     

Household Air Quality Risk Factors Associated with Childhood Pneumonia in Urban Dhaka,Bangladesh

To inform interventions to reduce the high burden of pneumonia in urban settings such as Kamalapur, Bangladesh, we evaluated household air quality risk factors for radiographically confirmed pneumonia in children. In 2009–2010, we recruited children < 5 years of age with pneumonia and controls from a population-based surveillance for respiratory and febrile illnesses. Piped natural gas was used by 85% of 331 case and 91% of 663 control households. Crowding, a tin roof in the living space, low socioeconomic status, and male sex of the child were risk factors for pneumonia. The living space in case households was 28% less likely than in control households to be cross-ventilated. Particulate matter concentrations were not significantly associated with pneumonia. With increasing urbanization and supply of improved cooking fuels to urban areas, the high burden of respiratory illnesses in urban populations such as Kamalapur may be reduced by decreasing crowding and improving ventilation in living spaces.     

Correction to: Regional differences in baseline disease activity and remission rates following golimumab treatment for RA: results from the GO-MORE trial

Clinical Rheumatology - The original publication contains two areas which require correcting. None of these errors change the results or conclusions of the article, but the authors wish to...     

The Maladaptive Pursuit of Consumption: the Impact of Materialism,Pain of Paying,Social Anxiety,Social Support,and Loneliness on Compulsive Buying

The current research examined the capability of materialism, pain of paying, social anxiety, social support, and loneliness to predict compulsive buying. A sample of students attending a public university located in the northeast USA were surveyed. A multiple regression indicated materialism, pain of paying, anhedonia, coping with substances, and social support received from family were predictors of compulsive buying. Pain of paying was the strongest predictor of compulsive buying. Understanding factors that affect compulsive buying aids the identification of compulsive buying and informs the treatment of compulsive buying. Treatment models may be more effective if additional attention is given to addressing and developing social support networks of compulsive buyers. Such social support may act as a buffer against the social anxiety compulsive buyers experience and may help reduce feelings of anhedonia and use of substances to control social anxiety.

     

Oleanolic acid:a promising neuroprotective agent for cerebral ischemia

<正>Stroke is considered the most common and severely disabling neurological disease.It is one of the leading causes of death after heart disease and cancer,causing 10%deaths worldwide and involving risk factors such as smoking,obesity and nutritional disbalance.Disability affects 75%of stroke survivors through severe mental and/or physical impairment depending on the affected brain area