Epidermolysis Bullosa Dystrophica Inversa in a Child

A 4-year-old child with dystrophic epidermolysis bullosa inversa is described. Clinical features were blistering of the skin, erosions, scarring and milia formation. The areas involved included the trunk, with preference for the axillary and inguinal folds, the neck and sacral area, and proximal extremities. Notably, the hands and feet were completely spared, with only mild nail dystrophy. Ultrastructural analysis revealed dermolytic blistering and absent or rudimentary anchoring fibrils. Collagen VII, the main structural protein of these fibrils, was present in the skin, as shown by indirect immunofluorescence. These findings suggest that a mutation that prevents appropriate supramolecular aggregation of collagen VII into anchoring fibrils may underlie this subtype of dystrophic epidermolysis bullosa in some patients.     

Response to symptoms of stroke in the UK: a systematic review

Background  

The English National Stroke Strategy suggests that there is a need to improve the response of patients and witnesses to the symptoms of acute stroke to increase rapid access to specialist care. We wished to review the evidence base regarding the knowledge, attitudes and behaviours of stroke patients, witnesses and the public to the symptoms of stroke and the need for an urgent response at the onset of symptoms.     

Preoperative antihypertensive medication intake and acute kidney injury after major vascular surgery

Objective

Postoperative acute kidney injury (AKI) is frequent after major vascular surgery and is associated with significant morbidity and mortality. It remains unclear whether the administration of combined oral antihypertensive medications on the day of surgery can increase the risk of postoperative AKI.

Time and frequency domain methods for quantifying common modulation of motor unit firing patterns

Background  

In investigations of the human motor system, two approaches are generally employed toward the identification of common modulating drives from motor unit recordings. One is a frequency domain method and uses the coherence function to determine the degree of linear correlation between each frequency component of the signals. The other is a time domain method that has been developed to determine the strength of low frequency common modulations between motor unit spike trains, often referred to in the literature as 'common drive'.     

ELECTRON MICROSCOPIC STUDIES OF EXPERIMENTAL NEPHRITIS WITH FERRITIN-CONJUGATED ANTIBODY : LOCALIZATION OF ANTIGEN-ANTIBODY COMPLEXES IN RABBIT GLOMERULI FOLLOWING REPEATED INJECTIONS OF BOVINE SERUM ALBUMIN

Acute, subacute, and chronic glomerulonephritis, similar in certain features to human glomerulonephritis, has been produced in rabbits by repeated injections of bovine serum albumin. The ratio of antigen to antibody was the factor determining the development and type of glomerulonephritis. This is in confirmation of the observations of Dixon, Feldman, and Vazquez. With the aid of the ferritin antibody technique it was shown that antigen aggregates (probably antigen-antibody complexes) are present in the blood, cross the endothelium and the basement membrane, and accumulate as dense deposits between the basement membrane and the epithelial cytoplasm. In the deposits electron-dense aggregates formed by antigen or by antigen-antibody complexes and material which might be other endogenous proteins may be identified. In rabbits dead of anaphylactic shock following injection of bovine serum albumin, dense material was found within glomerular capillaries, presumably formed by the embolic deposition of antigen-antibody complexes, since the immunofluorescein and immunoferritin techniques demonstrated the presence of both BSA and rabbit globulin.     

Effects of Grape Skin Extract on Age-Related Mitochondrial Dysfunction,Memory and Life Span in C57BL/6J Mice

Dementia contributes substantially to the burden of disability experienced at old age, and mitochondrial dysfunction (MD) was identified as common final pathway in brain aging and Alzheimer’s disease. Due to its early appearance, MD is a promising target for nutritional prevention strategies and polyphenols as potential neurohormetic inducers may be strong neuroprotective candidates. This study aimed to investigate the effects of a polyphenol-rich grape skin extract (PGE) on age-related dysfunctions of brain mitochondria, memory, life span and potential hormetic pathways in C57BL/6J mice. PGE was administered at a dose of 200 mg/kg body weight/d in a 3-week short-term, 6-month long-term and life-long study. MD in the brains of aged mice (19–22 months old) compared to young mice (3 months old) was demonstrated by lower ATP levels and by impaired mitochondrial respiratory complex activity (except for mice treated with antioxidant-depleted food pellets). Long-term PGE feeding partly enhanced brain mitochondrial respiration with only minor beneficial effect on brain ATP levels and memory of aged mice. Life-long PGE feeding led to a transient but significant shift of survival curve toward higher survival rates but without effect on the overall survival. The moderate effects of PGE were associated with elevated SIRT1 but not SIRT3 mRNA expressions in brain and liver tissue. The beneficial effects of the grape extract may have been influenced by the profile of bioavailable polyphenols and the starting point of interventions.     

Bipolar Disorder in Pregnancy and Postpartum: Principles of Management

Pregnancy and postpartum represent times of increased vulnerability for women with bipolar disorder, yet this condition remains under-diagnosed and under-treated. As 50 % of pregnancies are unplanned, the risks associated with the illness and the potential risks associated with treatment should be considered when a woman of reproductive age first presents for evaluation. This article reviews the epidemiology of perinatal bipolar disorder, screening recommendations, and treatment with pharmacotherapy and electroconvulsive therapy (ECT). An overview of the data in pregnancy and lactation is presented for lithium, lamotrigine, valproic acid, newer antipsychotics, and ECT. General principles of management include close monitoring in pregnancy and postpartum, careful adjustment of the treatment regimen to attenuate the risk of relapse, and avoidance of valproic acid when possible. Thoughtful consideration of these issues will minimize the risks to the mother and baby.     

Sexuality Among Adults with Congenital Deafblindness: A Cross-Sectional Survey Study Among Primary Carers

Research investigating the sexuality of individuals with physical or intellectual disabilities is increasing. However, little is known about the sexuality of people with congenital deafblindness (CDB). The aim of the current study was to create a profile of the sexuality of adults with CDB in Denmark. Data was collected from the primary carers of 95 adults with CDB by use of a survey with questions about sexual behavior, the object of sexual behavior, level of sexual frustration, and pedagogical support for sexual satisfaction. The data were analyzed with regard to gender, age, severity of deafblindness, communication, activities of daily living (ADL), cognitive abilities, and carer characteristics. The results revealed that approximately half the number of participants showed sexual behavior while the other half did not. In the majority of cases, sexual behavior was self-stimulation, while, for the rest, sexual behavior was directed toward other people and/or objects. Around one out of ten participants was provided with pedagogical support to help satisfy their sexual needs. Sexual behavior was significantly associated with high scores for communication skills, ADL, and cognitive abilities. Further, high ADL and cognitive abilities were associated with the provision of pedagogical support for sexual satisfaction. Around one out of ten participants, all of whom were men, experienced sexual frustrations. The findings of the current study—the first quantitative study on sexuality among individuals with CDB—are comparable to the findings of studies among individuals with developmental disorders and underline the need for sexuality-related support for individuals with disabilities including those with CDB.