Nucleoporin107 mediates female sexual differentiation via Dsx.

We recently identified a missense mutation in Nucleoporin107 (Nup107; D447N) underlying XX-ovarian-dysgenesis, a rare disorder characterized by underdeveloped and dysfunctional ovaries. Modeling of the human mutation in or specific knockdown of Nup107 in the gonadal soma resulted in ovarian-dysgenesis-like phenotypes. Transcriptomic analysis identified the somatic sex-determination gene ) as a target of Nup107.

Role of Population Receptive Field Size in Complex Visual Dysfunctions: A Posterior Cortical Atrophy Model.

Importance: The neuronal mechanism of visual agnosia and foveal crowding that underlies the behavioral symptoms of several classic neurodegenerative diseases, including impaired holistic perception, navigation, and reading, is still unclear. A better understanding of this mechanism is expected to lead to better treatment and rehabilitation.

Objective: To use state-of-the-art neuroimaging protocols to assess a hypothesis that abnormal population receptive fields (pRF) in the visual cortex underlie high-order visual impairments.

Improving the quality of foods available in a rural kibbutz cafeteria in Israel to align with a freshly prepared Mediterranean-style diet through a community culinary coaching programme.

Objective: To examine the impact of a community culinary coaching programme (CCCP) on cafeteria food alignment with a freshly prepared Mediterranean-style diet, and diners' consumption habits and satisfaction.

Design: A non-randomized, controlled, community-based participatory research programme. CCCP included eight 90 min coaching sessions with a community steering committee, 22 h of kitchen staff training, 12 h of pre-school staff training and 30 h of education for diners; control communities received no intervention.

Improving Adherence to Mediterranean-Style Diet With a Community Culinary Coaching Program: Methodology Development and Process Evaluation.

The Community Culinary Coaching Program is a community-based participatory program aimed at improving communal settlement residents' nutrition. The residents, central kitchens, preschools, and communal dining rooms were identified as areas for intervention. Evaluation included goals accomplishment assessed by food purchases by the central kitchens, and residents' feedback through focus groups.

Does Physician's Training Induce Overconfidence That Hampers Disclosing Errors?

Purpose: Although transparency is critical for reducing medical errors, physicians feel discomfort with disclosure. We explored whether overconfidence relates to physician's reluctance to admit that an error may have occurred.

Method: At 3 university medical centers, a survey presented a clinical vignette of a girl with urinary infection and penicillin allergy to medical students and physicians, asking them to rate their level of confidence for each step of the diagnosis and management.

Anatomical and functional connectivity in the default mode network of post-traumatic stress disorder patients after civilian and military-related trauma.

Posttraumatic stress disorder (PTSD) is characterized by unwanted intrusive thoughts and hyperarousal at rest. As these core symptoms reflect disturbance in resting-state mechanisms, we investigated the functional and anatomical involvement of the default mode network (DMN) in this disorder. The relation between symptomatology and trauma characteristics was considered.

Combating terror: a new paradigm in student trauma education.

Background: Other than the Advanced Trauma Life Support course, usually run for postgraduate trainees, there are few trauma courses available for medical students. It has been shown that trauma teaching for medical students is sadly lacking within the undergraduate curriculum. We stated that students following formal teaching, even just theory and some practice in basic skills significantly improved their management of trauma patients.

Prognosis of patients with non-ST-segment-elevation myocardial infarction and nonobstructive coronary artery disease: propensity-matched analysis from the Acute Catheterization and Urgent Intervention Triage Strategy trial.

Background: Troponin elevation is a risk factor for mortality in patients with non-ST-segment-elevation acute coronary syndromes. However, the prognosis of patients with troponin elevation and nonobstructive coronary artery disease (CAD) is unknown. Our objective was therefore to evaluate the impact of nonobstructive CAD in patients with non-ST-segment-elevation acute coronary syndromes and troponin elevation enrolled in the Acute Catheterization and Urgent Intervention Triage Strategy (ACUITY) trial.

Coxsackievirus A6-related hand foot and mouth disease: skin manifestations in a cluster of adult patients.

Background: Hand foot and mouth disease (HFMD) is a common childhood manifestation of enterovirus (EV) infection. It predominantly affects young children, and has been mainly associated with coxsackievirus (CV) A16 and EV 71.

Objectives: We report an unusual cluster of adult patients with HFMD.

The value of human chorionic gonadotropin stimulation test in predicting ovarian response during in-vitro fertilization.

Purpose: To assess the predictive value of human Chorionic Gonadotropin (hCG) theca-stimulation test for ovarian reserve in women undergoing in-vitro fertilization (IVF) treatments.

Methods: 39 women were included in the study. All participants received a single hCG 10000 IU injection on cycle day 2-3.

Acetabular orientation variability and symmetry based on CT scans of adults.

Purpose: Understanding acetabular orientation is important in many orthopaedic procedures. Acetabular orientation, usually described by anteversion and abduction angles, has uncertain measurement variability in adult patients. The goals of this study are threefold: (1) to describe a new method for computing patient-specific abduction/anteversion angles from a single CT study based on the identification of anatomical landmarks and acetabular rim points; (2) to quantify the inaccuracies associated with landmark selection in computing the acetabular angles; and (3) to quantify the variability and symmetry of acetabular orientation.

The current state in the evaluation and treatment of ARdS and SIRS.

Trauma, the number one cause of death until the fourth decade of life, causes an inflammatory response. This response in its extreme is associated with the development of the systemic inflammatory state, adult respiratory distress syndrome, multi-organ failure, and death. The inflammatory response is mediated via multiple pathways- the inflammatory-cytokine, immunologic, coagulation and endocrine pathways.

Minimally invasive antral membrane balloon elevation in the presence of antral septa: a report of 26 procedures.

Antral septa of the maxillary sinus occurs in approximately one third of patients undergoing posterior maxillary bone augmentation and is considered a relative contraindication for lateral maxillary window ("hinge osteotomy"). We present the results of 26 consecutive cases of patients with septated maxillary sinus who underwent minimally invasive antral membrane balloon elevation (MIAMBE) followed by bone augmentation and implant fixation. After undergoing preprocedural assessment and signing an informed consent, 57 consecutive patients were referred for posterior maxillary bone augmentation.

Implementing metal detector technology and a navigation system in the removal of shrapnel.

Introduction: The removal of metal shrapnel in the sub-acute phase of casualty treatment requires the utmost accuracy in detection and removal, especially when there is proximity to major neurovascular structures. Inability to successfully locate and remove retained fragments may lead to a variety of complications due to fragment migration. In this study we prove the feasibility of a new technique which uses metal detector technology combined with a surgical navigation system, resulting in improved accuracy and decreased operating time.

Osteoid osteoma: CT-guided radiofrequency ablation using a water-cooled probe.

Background: The purpose of this study was to assess the safety and efficacy of computed tomography (CT) guided percutaneous radiofrequency (RF) ablation of osteoid osteoma by using the water-cooled probe.

Methods: During the period from July 2002 to February 2006, fifty-one patients with osteoid osteomas localized in femur (29), tibia (10), calcaneus (2), talus (2), metatarsus (2), humerus (1), sacrum (1), scapula (1), olecranon (1), patella (1) and thoracic vertebra (1) were treated with CT-guided RF ablation using the Cooltiptrade mark Tyco Healthcare probe. Mean age was 20 (range, 3.

A short plate compression screw with diagonal bolts--a biomechanical evaluation performed experimentally and by numerical computation.

Introduction: Decreasing the length of the side plate of the dynamic hip screw would theoretically allow a smaller surgical incision, a shorter surgical time, decreased operative blood loss and minimal periosteal stripping. A new design of a very short plate dynamic hip screw based on two diagonal screws has been developed. Our study compares the new design and the four-hole side plate in respect to mechanical properties and bio-mechanical outcomes utilizing the Finite Element Analysis method.

Posttraumatic stress disorder among hospital surgical physicians exposed to victims of terror: a prospective, controlled questionnaire survey.

Background And Objective: Surgical physicians often treat victims of terror-related multiple-casualty incidents. This may cause secondary posttraumatic stress disorder (PTSD), impairing their ability to care for patients. The objective of this study was to determine whether professional exposure to victims of terror caused PTSD in Israeli physicians from surgical disciplines.

Onchocerciasis--river blindness.

Onchocerciasis results from infestation by the nematode Onchocerca volvulus and is characterized by troublesome itching, skin lesions, and eye manifestations. Although partially controlled by international mass prevention programs, onchocerciasis remains a major health hazard and is endemic in Africa, Arabia, and the Americas. Onchocerciasis is spread by bites from infested black flies, which transmit larvae that subsequently develop into adult filariae.

The UVB-induced gene expression profile of human epidermis in vivo is different from that of cultured keratinocytes.

In order to obtain a comprehensive picture of the molecular events regulating cutaneous photodamage of intact human epidermis, suction blister roofs obtained after a single dose of in vivo ultraviolet (UV)B exposure were used for microarray profiling. We found a changed expression of 619 genes. Half of the UVB-regulated genes had returned to pre-exposure baseline levels at 72 h, underscoring the transient character of the molecular cutaneous UVB response.

Transcription factors in islet development and physiology: role of PDX-1 in beta-cell function.

Differentiation of early foregut endoderm into pancreatic endocrine and exocrine cells depends on a cascade of gene activation events controlled by various transcription factors. The first molecular marker identified that specifies the early pancreatic epithelium is the homeodomain-containing transcription factor PDX-1. Its absence in mice and humans during development leads to agenesis of the pancreas.

Gene expression profiling of in vivo UVB-irradiated human epidermis.

Background: Several recent studies have employed microarray profiling to study UVB-regulated gene expression in human skin. These studies are all based on UV-irradiated cultured cells that differ substantially from the intact tissues they are supposed to imitate. The purpose of the present study was to analyze the differential expression of UVB-regulated genes in intact human epidermis following in vivo UV irradiation.