Facial palsy and Valsalva-induced vertigo in a patient with temporal bone cystic fibrous dysplasia

A 29-year-old woman, known with polyostotic fibrous dysplasia, presented with facial palsy, vertigo, and ipsi-lateral neck pain. Radiology revealed a large temporal bone cyst, extruding intracranially, eroding the labyrinth and Fallopian canal. Histopathology of the cyst wall retrieved through transmastoidal biopsy showed a mutation in the Gs-alpha gene, confirming cystic degeneration of fibrous dysplasia, making this a unique case in which both the inner ear and facial canal are affected by this condition

Facial palsy and Valsalva-induced vertigo in a patient with temporal bone cystic fibrous dysplasia

A 29-year-old woman, known with polyostotic fibrous dysplasia, presented with facial palsy, vertigo, and ipsi-lateral neck pain. Radiology revealed a large temporal bone cyst, extruding intracranially, eroding the labyrinth and Fallopian canal. Histopathology of the cyst wall retrieved through transmastoidal biopsy showed a mutation in the Gs-alpha gene, confirming cystic degeneration of fibrous dysplasia, making this a unique case in which both the inner ear and facial canal are affected by this condition

NTCP deficiency in mice protects against obesity and hepatosteatosis

Bile acids play a major role in the regulation of lipid and energy metabolism. Here we propose the hepatic bile acid uptake transporter Na+ taurocholate cotransporting polypeptide (NTCP) as a target to prolong postprandial bile acid elevations in plasma. Reducing hepatic clearance of bile acids from plasma by genetic deletion of NTCP moderately increased plasma bile acid levels, reduced diet-induced obesity, attenuated hepatic steatosis, and lowered plasma cholesterol levels. NTCP and G protein–coupled bile acid receptor–double KO (TGR5–double KO) mice were equally protected against diet-induced obesity as NTCP–single KO mice. NTCP-KO mice displayed decreased intestinal fat absorption and a trend toward higher fecal energy output. Furthermore, NTCP deficiency was associated with an increased uncoupled respiration in brown adipose tissue, leading to increased energy expenditure. We conclude that targeting NTCP-mediated bile acid uptake can be a novel approach to treat obesity and obesity-related hepatosteatosis by simultaneously dampening intestinal fat absorption and increasing energy expenditure

Standardized multidisciplinary evaluation yields significant previously undiagnosed morbidity in adult women with Turner syndrome

Contains fulltext : 96365.pdf (publisher's version ) (Open Access)CONTEXT: Besides short stature and gonadal dysgenesis, Turner syndrome (TS) is associated with various abnormalities. Adults with TS have a reduced life expectancy, mainly related to structural abnormalities of the heart and aorta, and an increased risk of atherosclerosis. OBJECTIVE: Our objective was to investigate the yield of an initial standardized multidisciplinary screening in adult TS patients. DESIGN AND SETTING: This was an observational study at a multidisciplinary care unit for adult women with TS. PARTICIPANTS: Participants were adult women with TS (n = 150). Mean age was 31.0 +/- 10.4 yr, with 47% karyotype 45,X. INTERVENTIONS: All women were consulted by an endocrinologist, a gynecologist, a cardiologist, an otorhinolaryngologist, and when indicated, a psychologist. The screening included magnetic resonance imaging of the heart and aorta, echocardiography, electrocardiogram, dual-energy x-ray absorptiometry, renal ultrasound, audiogram, and laboratory investigations according to international expert recommendations. MAIN OUTCOME MEASURES: New diagnoses and prevalence of TS-associated morbidity were evaluated. RESULTS: Thirty percent of patients currently lacked medical follow-up, and 15% lacked estrogen replacement therapy in the recent last years. The following disorders were newly diagnosed: bicuspid aortic valve (n = 13), coarctation of the aorta (n = 9), elongation of the transverse aortic arch (n = 27), dilation of the aorta (n = 34), osteoporosis (n = 8), osteopenia (n = 56), renal abnormalities (n = 7), subclinical hypothyroidism (n = 33), celiac disease (n = 3), glucose intolerance (n = 12), dyslipidemia (n = 52), hypertension (n = 39), and hearing loss warranting a hearing aid (n = 8). Psychological consultation was needed in 23 cases. CONCLUSIONS: Standardized multidisciplinary evaluation of adult women with TS as advocated by expert opinion is effective and identifies significant morbidity. Girls with TS benefit from a careful transition to ongoing adult medical care

Bacillus pumilus reveals a remarkably high resistance to hydrogen peroxide provoked oxidative stress

Contains fulltext : 127684.pdf (publisher's version ) (Open Access)Bacillus pumilus is characterized by a higher oxidative stress resistance than other comparable industrially relevant Bacilli such as B. subtilis or B. licheniformis. In this study the response of B. pumilus to oxidative stress was investigated during a treatment with high concentrations of hydrogen peroxide at the proteome, transcriptome and metabolome level. Genes/proteins belonging to regulons, which are known to have important functions in the oxidative stress response of other organisms, were found to be upregulated, such as the Fur, Spx, SOS or CtsR regulon. Strikingly, parts of the fundamental PerR regulon responding to peroxide stress in B. subtilis are not encoded in the B. pumilus genome. Thus, B. pumilus misses the catalase KatA, the DNA-protection protein MrgA or the alkyl hydroperoxide reductase AhpCF. Data of this study suggests that the catalase KatX2 takes over the function of the missing KatA in the oxidative stress response of B. pumilus. The genome-wide expression analysis revealed an induction of bacillithiol (Cys-GlcN-malate, BSH) relevant genes. An analysis of the intracellular metabolites detected high intracellular levels of this protective metabolite, which indicates the importance of bacillithiol in the peroxide stress resistance of B. pumilus