Endometriosis MRI: Atypical cases, pitfalls and mimics.

Endometriosis is a common but often underdiagnosed chronic gynaecological disease. Endometriosis mimics other diagnoses both clinically and radiographically, presenting a diagnostic challenge. Endometriosis can be categorised as superficial pelvic endometriosis, deep invasive endometriosis (DIE) or endometrioma.

Endometriosis: A multimodal imaging review.

Endometriosis is a chronic inflammatory disorder characterized endometrial-like tissue present outside of the uterus, affecting approximately 10% of reproductive age women. It is associated with abdomino-pelvic pain, infertility and other non - gynecologic symptoms, making it a challenging diagnosis. Several guidelines have been developed by different international societies to diagnose and classify endometriosis, yet areas of controversy and uncertainty remains.

An unusual case of acute otitis media resulting in Gradenigo syndrome: CT and MRI findings.

With the widespread use of antibiotics, Gradenigo syndrome is a rare complication of acute otitis media (AOM) and acute mastoiditis. It is an uncommon form of petrous apicitis and can be life-threatening. We report the case of a 14-year-old female with unresolved AOM, who developed otorrhea, ipsilateral headaches, diplopia and raised inflammatory markers.

A Novel Pathogenic Variant in the Gene in a Patient Presenting with Rhombencephalosynapsis and Craniofacial Anomalies, Expanding MN1 C-terminal Truncation Syndrome.

Meningioma-1 is a transcription activator that regulates mammalian palate development and is required for appropriate osteoblast proliferation, motility, differentiation, and function. Microdeletions involving the gene have been linked to syndromes including craniofacial anomalies, such as Toriello-Carey syndrome. Recently, truncating variants in the C-terminal portion of the MN1 transcriptional factor have been linked to a characteristic and distinct phenotype presenting with craniofacial anomalies and partial rhombencephalosynapsis, a rare brain malformation characterized by midline fusion of the cerebellar hemispheres with partial or complete loss of the cerebellar vermis.

The economic benefits of increasing breastfeeding rates in Spain.

Background: Interventions aimed at promoting breastfeeding rates are among the most effective possible health policies available, with an estimated return of US$35 per dollar invested. Indeed, some authors found that a 10% increase in exclusive breastfeeding rates in the first two years of life led to a reduction in treatment costs of US$312 million in the US, US$7.8 million in the UK, US$30 million in China, and US$1.

Cerebrospinal fluid leak during stapes surgery: Gushing leaks and oozing leaks, two different phenomena.

Cerebrospinal fluid (CSF) leak is an uncommon event that can occur during stapes surgery. Such leaks can be classified as gushing leaks (stapes gushers) and oozing leaks. A stapes gusher is a massive flow of CSF through the perforated footplate that fills the middle ear suddenly, while an oozing leak is a slower and less profuse flow.

Lung function gain in preterm infants with and without bronchopulmonary dysplasia.

Objectives: The aim of our study was to determine whether the development of lung function, during the first 2 years of life, is different in preterm infants who suffered or did not suffer from Bronchopulmonary dysplasia (BPD). We also assessed the role of nutritional status and growth in that development.

Methods: Lung function tests were performed in 71 preterm infants at two time points: 6 months of corrected age and 1 year after.

[Electroclinical characteristics of a patient with ring chromosome 20 syndrome].

Introduction: The ring chromosome 20 syndrome (r20) is a rare genetic disorder with a late diagnosis.

Case Report: A 17 year old boy with drug-resistant epilepsy of 14 years of evolution, which has moderate mental retardation, behavioral alterations and seizures consisting of complex non-convulsive status and generalized seizures during wakefulness, along with more subtle epileptic manifestations during sleep. Karyotype in peripheral blood showed the existence of a ring chromosome 20, whose breakpoints were p13q13.

Role of fatty-acid synthesis in dendritic cell generation and function.

Dendritic cells (DC) are professional APCs that regulate innate and adaptive immunity. The role of fatty-acid synthesis in DC development and function is uncertain. We found that blockade of fatty-acid synthesis markedly decreases dendropoiesis in the liver and in primary and secondary lymphoid organs in mice.

Dendritic cells limit fibroinflammatory injury in nonalcoholic steatohepatitis in mice.

Unlabelled: Nonalcoholic steatohepatitis (NASH) is the most common etiology of chronic liver dysfunction in the United States and can progress to cirrhosis and liver failure. Inflammatory insult resulting from fatty infiltration of the liver is central to disease pathogenesis. Dendritic cells (DCs) are antigen-presenting cells with an emerging role in hepatic inflammation.

Analysis of follicular fluid and serum markers of oxidative stress in women with infertility related to endometriosis.

Objective: To study the levels of four markers of oxidative stress in follicular fluid (FF) and plasma of patients with infertility related to endometriosis and controls.

Design: Experimental study.

Setting: University-affiliated hospital and infertility center.

Screening for mutations in Spanish families with myotonia. Functional analysis of novel mutations in CLCN1 gene.

Myotonia congenita is an inherited muscle disorder caused by mutations in the CLCN1 gene, a voltage-gated chloride channel of skeletal muscle. We have studied 48 families with myotonia, 32 out of them carrying mutations in CLCN1 gene and eight carry mutations in SCN4A gene. We have found 26 different mutations in CLCN1 gene, including 13 not reported previously.

Metastasis of amelanotic melanoma of unknown origin in the parotid gland.

We report a rare case of metastasis of an amelanotic melanoma of the parotid gland. To our knowledge this is the first report of a metastasis of an amelanotic melanoma in a parotid lymph node. Superficial parotidectomy with no other complementary treatment controlled the tumour.

Activation of calcium-dependent kinases and epidermal growth factor receptor regulate muscarinic acetylcholine receptor-mediated MAPK/ERK activation in thyroid epithelial cells.

We previously showed that stimulation of muscarinic acetylcholine receptors (mAChR) by carbachol (Cch) caused a time- and dose-dependent increase of mitogen-activated protein kinase/extracellular signal-regulated kinases (MAPK/ERK) phosphorylation in thyroid epithelial cells. In this study, we demonstrated that mAChR stimulation also induced a time-dependent increase in the tyrosine phosphorylation of proline-rich tyrosine kinase 2 (Pyk2), which was prevented by pretreatment of thyroid epithelial cells with the specific Src-family tyrosine kinase inhibitor PP2. Besides, phosphorylation of Pyk2 was attenuated by chelation of extracellular Ca(2+) or inhibition of phospholipase C (PLC), and was evoked by thapsigargin, a specific microsomal Ca(2+)-ATPase inhibitor.

[Effects of functional septoplasty in obstructive sleep apnea syndrome].

Background And Objective: To evaluate the efficacy of functional septoplasty in a group of patients with septal dysmorphy and obstructive sleep apnea syndrome (OSAS).

Patients And Method: 34 patients with nasal respiratory insufficiency and chronic snore were included from 1997 to 2003. All of them were diagnosed of OSAS by nocturnal polysomnography (PSG) and of septal dysmorphy by ORL physical examination.

Activation of second messenger-dependent protein kinases induces muscarinic acetylcholine receptor desensitization in rat thyroid epithelial cells.

Internalization and phosphorylation of G protein-coupled receptors (GPCR) are considered two important regulatory events of receptor signal transduction. In Fischer rat thyroid (FRT) epithelial cells, we have shown that muscarinic acetylcholine receptor (mAChR) stimulation induces intracellular Ca2+ mobilization via Ca2+ store release, capacitative Ca2+ entry and voltage-dependent Ca2+ channels activation. In the present study, the role of mAChR internalization and phosphorylation on receptor signalling pathway was examined by means of intracellular Ca2+ measurement in these cells.

Ewings' sarcoma of the mandible.

Ewings' sarcoma involving the facial bones is rare although it is the second most frequent bone malignancy. For the diagnosis a biopsy is needed. Currently the treatment is the combination of chemotherapy and radiotherapy with surgery indicated in only a few instances.

Presence of interdigitating cells in thymus of the sea bass, Dicentrarchus labrax L. (Teleost).

Interdigitating cells in the thymus of the sea bass, Dicentrarchus labrax, occur principally in the internal zone and in the border with the external zone. Ultrastructurally, the most characteristic cytological features of these cells are their low electron density, complicated labyrinthine membrane-membrane contacts, scantiness of cytoplasmic organelles, presence of Birbeck-like granules, juxtanuclear tubulo-vesicular complex, and phagocytic capacity. © 1995 Wiley-Liss, Inc.