ENDOMETRIOMA OF THE LIVER

Hepatic endometriosis is extremely rare. The diagnosis is often missed and treatment is delayed. A 37-year-old woman was referred to the gynaecology department with vague abdominal pains. She had a past history of pelvic endometriosis and hysterectomy with bilateral salpingo-oophorectomy. Further investigations in due course confirmed it to be endometriosis of the liver. She was eventually referred to the hepatobiliary unit, almost three years after her first presentation, where she was operated on with good results.     

Successful Treatment of Bone Marrow Failure in Gaucher's Disease with Low-dose Modified Glucocerebrosidase

We report the beneficial effects of enzyme replacement therapywith mannose-terminated human glucocerebrosidase (‘Ceredase’)in a patient suffering from transfusion-dependent bone marrowfailure due to Gaucher's disease. Treatment with low-dose enzymeinfusions, given twice weekly, rapidly reversed the haematopoieticfailure and incapacitating skeletal disease. It appears likelythat prior splenectomy favourably influenced the response tothis therapy.     

Increased number of substitutions in the D-loop of mitochondrial DNA in the sudden infant death syndrome

The purpose of the present study was to investigate substitutions in the D-loop of mitochondrial DNA (mtDNA) in sudden infant death syndrome (SIDS) and controls, since several observations indicate the involvement of mtDNA mutations in SIDS. These include elevated levels of vitreous humour hypoxanthine in SIDS victims, familial clustering without mendelian traits, and observations of increased sleepiness and a lower activity score in infants who later succumbed to SIDS. Eighty-two cases of SIDS and 133 controls were investigated and the D-loop sequences were recorded in the base-pair range 16 055-16 500 in the mtDNA sequence. The sequencing was carried out using the Applied Biosystems Sequenase dye terminator method and a ABD373A sequencer. The recorded D-loop sequences were compared with the Cambridge sequence and differences were recorded as substitutions. The SIDS cases had a tendency towards a higher substitution rate in the D-loop than the controls ( p = 0.088). This observation makes it interesting to search for deleterious mutations in other locations in the mtDNA.     

Funding global emergency medicine research—from seed grants to NIH support

Background

Funding for global health has grown significantly over the past two decades. Numerous funding opportunities for international development and research work exist; however, they can be difficult to navigate. The 2013 Academic Emergency Medicine consensus conference on global health and emergency care identified the need to strengthen global emergency care research funding, solidify existing funding streams, and expand funding sources.

Results

This piece focuses on the various federal funding opportunities available to support emergency physicians conducting international research from seed funding to large institutional grants. In particular, we focus on the application and review processes for the Fulbright and Fogarty programs, National Institutes of Health (NIH) Career development awards, and the Medical Education Partnership Initiative (MEPI), including tips and pathways through each application process.

Conclusions

Lastly, the paper provides an index that may be used as a guide in determining whether the amount of funding provided by a grant is worth the effort in applying.

     

Sildenafil in pediatric pulmonary arterial hypertension

Pulmonary arterial hypertension (PAH) is a life-threatening disease of varied etiologies. Although PAH has no curative treatment, a greater understanding of pathophysiology, technological advances resulting in early diagnosis, and the availability of several newer drugs have improved the outlook for patients with PAH. Sildenafil is one of the therapeutic agents used extensively in the treatment of PAH in children, as an off-label drug. In 2012, the United States Food and Drug Administration (USFDA) issued a warning regarding the of use high-dose sildenafil in children with PAH. This has led to a peculiar situation where there is a paucity of approved therapies for the management of PAH in children and the use of the most extensively used drug being discouraged by the regulator. This article provides a review of the use of sildenafil in the treatment of PAH in children.KEY WORDS: Child, phosphodiesterase (PDE)-5 inhibitor, Pulmonary hypertension therapy     

The pronase resistance of cholesterol-nucleating glycoproteins in human bile

BACKGROUND & AIMS: Many putative pronucleating proteins have been isolated from the biliary concanavalin A (con A)-binding fraction. The pronase resistance of the overall nucleating-promoting activity was almost never taken into consideration. The aim of this study was to identify the major pronase-resistant con A-binding glycoproteins. METHODS: Pronase-treated and -untreated con A-binding glycoproteins were separated on a Superose 12 gel permeation column (Pharmacia, Uppsala, Sweden) and tested in a crystal growth assay. Proteins were identified by amino-terminal sequencing. RESULTS: Con A-binding pronucleating activity eluted in two peaks on the Superose column. This activity was unaltered after pronase treatment. Activity peak I contained too little protein to allow amino-terminal sequencing. In activity peak II, the major pronase-resistant con A-binding glycoproteins were identified as alpha 1-antitrypsin and alpha 1- antichymotrypsin. The 130-kilodalton nucleation promoter was identified as aminopeptidase N, but the full pronase resistance of this protein, reported earlier, was not confirmed. Immunoabsorptive removal of alpha 1-antitrypsin and alpha 1-antichymotrypsin and immunopurification showed that only alpha 1-antichymotrypsin had pronucleating activity. CONCLUSIONS: The pronase resistance of the nucleating-promoting activity of the con A-binding glycoprotein fraction was confirmed. An important part of this activity could be attributed to alpha 1- antichymotrypsin. It is an acute-phase protein, as are many other pronucleating proteins, which might indicate a general mechanism of action in gallstone formation. (Gastroenterology 1996 Jun;110(6):1926-35)