Management of erythropoietic protoporphyria with cholestatic liver disease: A case report.

Erythropoietic protoporphyria (EPP) is a rare metabolic disease of the heme biosynthetic pathway where an enzymatic dysfunction results in protoporphyrin IX (PPIX) accumulation in erythroid cells. The porphyrins are photo-reactive and are responsible for severe photosensitivity in patients, thus drastically decreasing their quality of life. The liver eliminates PPIX and as such, the main and rare complication of EPP is progressive cholestatic liver disease, which can lead to liver failure.

Spontaneous allelic variant in deafness-blindness gene Ush1g resulting in an expanded phenotype.

Relationships between novel phenotypic behaviors and specific genetic alterations are often discovered using target-specific, directed mutagenesis or phenotypic selection following chemical mutagenesis. An alternative approach is to exploit deficiencies in DNA repair pathways that maintain genetic integrity in response to spontaneously induced damage. Mice deficient in the DNA glycosylase NEIL1 show elevated spontaneous mutations, which arise from translesion DNA synthesis past oxidatively induced base damage.

Human Osteoblast-Conditioned Media Can Influence Biofilm Formation.

Osteoblasts are bone-forming and highly active cells participating in bone homeostasis. In the case of osteomyelitis and more specifically prosthetic joint infections (PJI) for which () is mainly involved, the interaction between osteoblasts and results in impaired bone homeostasis. If, so far, most of the studies of osteoblasts and interactions were focused on osteoblast response following direct interactions with co-culture and/or internalization models, less is known about the effect of osteoblast factors on biofilm formation.

A Ketogenic & Low-Protein Diet Slows Retinal Degeneration in rd10 Mice.

Purpose: Treatments that delay retinal cell death regardless of genetic causation are needed for inherited retinal degeneration (IRD) patients. The ketogenic diet is a high-fat, low-carbohydrate diet, used to treat epilepsy, and has beneficial effects for neurodegenerative diseases. This study aimed to determine whether the ketogenic diet could slow retinal degeneration.

[Association between prescription of long-term systemic glucocorticoid therapy associated measures and prescriber's medical speciality].

Introduction: In order to prevent some glucocorticoid-induced adverse events, adjuvant measures are often associated with prescription of long-term (≥3 months) systemic glucocorticoid therapy. The main objective of this study was to study the association between prescription of these measures and the medical specialty of the prescriber.

Methods: A cross-sectional study was conducted through the website www.

Somatic mutations of calreticulin in myeloproliferative neoplasms.

Background: Approximately 50 to 60% of patients with essential thrombocythemia or primary myelofibrosis carry a mutation in the Janus kinase 2 gene (JAK2), and an additional 5 to 10% have activating mutations in the thrombopoietin receptor gene (MPL). So far, no specific molecular marker has been identified in the remaining 30 to 45% of patients.

Methods: We performed whole-exome sequencing to identify somatically acquired mutations in six patients who had primary myelofibrosis without mutations in JAK2 or MPL.

[Glucocorticoid therapy: what is the information sought by patients? Traffic analysis of the website cortisone-info.fr].

Introduction: About 1% of the general population are receiving systemic glucocorticoids. The information about this treatment sought by patients is unknown.

Materials And Methods: The website www.

Validation of noninvasive biomarkers (FibroTest, SteatoTest, and NashTest) for prediction of liver injury in patients with morbid obesity.

Background: Liver biopsy is considered as the gold standard for assessing nonalcoholic fatty liver disease (NAFLD) histologic lesions in patients with morbid obesity. The aim of this study was to determine the diagnostic utility of noninvasive markers of fibrosis (FibroTest), steatosis (SteatoTest), and steatohepatitis (NashTest, ActiTest) in these patients.

Materials And Methods: Two hundred and eighty-eight patients presenting with interpretable baseline operative biopsy and biomarkers, in an ongoing prospective cohort of patients treated with bariatric surgery, were included.

Phases of myogenic cell activation and possible role of dermomyotome cells in teleost muscle formation.

Present knowledge indicates that fibre recruitment (hyperplasia) in developing teleost fish occurs in three distinct phases. However, the origin and relationship of the myogenic precursors activated during the different phases remains unclear. Here, we address this issue using molecular techniques on embryos and larvae of pearlfish, a large cyprinid species.

[Cryptococcal whitlow in a HIV positive patient].

Introduction: Cutaneous cryptococcosis is a systemic fungal disease; it is commonly observed in immunocompromised patients.

Observation: We report the case of a cryptococcal whitlow in an HIV positive patient. The mycologic culture of the cutaneous lesion was positive for Cryptococcus neoformans serotype D.

Topical ketoconazole for infantile seborrhoeic dermatitis.

In an open study, 19 infants with a bipolar seborrhoeic rash were treated with ketoconazole 2% in cream once a day and evaluated over 10 days of treatment. At day 10, 78.9% of patients were almost cleared.