Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3.

Greig cephalopolysyndactyly syndrome (GCPS) is a multiple congenital malformation characterised by limb and craniofacial anomalies, caused by heterozygous mutation or deletion of GLI3. We report four boys and a girl who were presented with trigonocephaly due to metopic synostosis, in association with pre- and post-axial polydactyly and cutaneous syndactyly of hands and feet. Two cases had additional sagittal synostosis.

How do emergency departments in England process the results of laboratory investigations?

Aims: To determine how emergency departments in England process laboratory investigation results, to identify risk, and to note examples of good practice.

Methods: A telephone survey was conducted, and data were entered anonymously into Excel spreadsheets. Fisher's exact test was used to test the independence of pairs of variables.

Prescribing in pregnancy and during breast feeding: using principles in clinical practice.

Prescribing in pregnancy often causes uncertainty and anxiety for the clinician and may lead to the omission of necessary treatment. Many drugs have inadequate data to assure safety, and therefore the clinician is left with a dilemma as to where the balance of risks and benefits lie with respect to the mother and her fetus. Understanding under what circumstances women can be prescribed medication and using principles of prescribing in pregnancy to further clarify the potential risks will aid good clinical decision-making.

Craniosynostosis.

Craniosynostosis, defined as the premature fusion of the cranial sutures, presents many challenges in classification and treatment. At least 20% of cases are caused by specific single gene mutations or chromosome abnormalities. This article maps out approaches to clinical assessment of a child presenting with an unusual head shape, and illustrates how genetic analysis can contribute to diagnosis and management.

Pre-assessment for children scheduled for day surgery.

This article reports on an evaluation of a established pre-assessment clinic for children scheduled for day surgery. The results suggest that the pre-assessment clinic increases the efficiency and effectiveness of the admissions process for children. The authors discuss the results in detail and make recommendations for further research and nursing practice.

Reappraising the concept of massive transfusion in trauma.

Introduction: The massive-transfusion concept was introduced to recognize the dilutional complications resulting from large volumes of packed red blood cells (PRBCs). Definitions of massive transfusion vary and lack supporting clinical evidence. Damage-control resuscitation regimens of modern trauma care are targeted to the early correction of acute traumatic coagulopathy.

The association of bullous pemphigoid with cerebrovascular disease and dementia: a case-control study.

Objective: To investigate the relationship between bullous pemphigoid (BP) and neurologic disease.

Design: Case-control study.

Setting: Tertiary care center for immunobullous diseases and skin tumor clinics at a university hospital in Oxford, England.

Tumor survivin is downregulated by the antisense oligonucleotide LY2181308: a proof-of-concept, first-in-human dose study.

Purpose: Enhanced tumor cell survival through expression of inhibitors of apoptosis (IAP) is a hallmark of cancer. Survivin, an IAP absent from most normal tissues, is overexpressed in many malignancies and associated with a poorer prognosis. We report the first-in-human dose study of LY2181308, a second-generation antisense oligonucleotide (ASO) directed against survivin mRNA.

Paraproteinaemia after allo-SCT, association with alemtuzumab-based conditioning and CMV reactivation.

Paraproteinaemia following allo-SCT is common. We analysed 91 consecutive patients undergoing allo-SCT; conditioning included alemtuzumab in 42% of the patients. Paraproteinaemia incidence at 2 years was 32%.

Stereotactic core biopsy of an impalpable screen-detected breast lesion using acupuncture-analgesia.

Chinese acupuncture-analgesia is used for pain management during various surgical procedures. Over the past 40 years this approach has been introduced in many countries and has been particularly helpful in the investigation and treatment of patients who are unable to tolerate conventional analgesia. We report here the case of a woman with a 17-year history of myalgic encephalitis who underwent a stereotactic core biopsy of the breast under acupuncture-analgesia.

Tonsillectomy for periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis syndrome (PFAPA).

Background: PFAPA syndrome (periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis syndrome) is a rare clinical syndrome of unknown cause usually identified in children.

Objectives: To assess the efficacy of tonsillectomy (with or without adenoidectomy) in children with PFAPA.

Search Strategy: We searched the Cochrane Central Register of Controlled Trials (CENTRAL) (The Cochrane Library, 2010 Issue 1); MEDLINE (PubMed); EMBASE; CINAHL; mRCT (metaRegister of clinical trials, including ClinicalTrials.

Streptococcus equi subspecies zooepidemicus meningitis--a case report and review of the literature.

A case is described of a 79-year-old man, trampled by his horses, who subsequently developed a wound infection and, later, meningitis. Streptococcus equi subsp. zooepidemicus was isolated as the causative organism.

The use of fresh-frozen plasma in England: high levels of inappropriate use in adults and children.

Background: Fresh-frozen plasma (FFP) is given to patients across a range of clinical settings, frequently in association with abnormalities of standard coagulation tests.

Study Design And Methods: A UK-wide study of FFP transfusion practice was undertaken to characterize the current patterns of administration and to evaluate the contribution of pretransfusion coagulation tests.

Results: A total of 4969 FFP transfusions given to patients in 190 hospitals were analyzed, of which 93.

Intraoperative augmented reality for laparoscopic colorectal surgery by intraoperative near-infrared fluorescence imaging and optical coherence tomography.

Advances in imaging quality and capability have been the major driver of the laparoscopic revolution that has dramatically impacted upon operative strategies and surgical patient care in recent years. Increasingly now the technological capacity is becoming available to supraselect or extend the useful clinical range of the electromagnetic spectrum beyond visible or white light. This has markedly broadened the intraprocedural optical information available at intraluminal endoscopy and there is likely to be considerable similar benefit for laparoscopy.

Prevalence of benign cutaneous disease among Oxford renal transplant recipients.

Background: The burden of malignant and benign cutaneous disease among renal transplant recipients (RTR) is substantial. Little attention is given to non-malignant skin problems in the literature despite their potential impact on quality of life or on aesthetics - which may contribute to poor compliance with immunosuppressive medications post-transplantation.

Objectives: The aim of this study was to examine prevalence of benign cutaneous disease in a group of RTRs and identify risk factors for individual cutaneous conditions.

Does a gating policy for ANCA overlook patients with ANCA associated vasculitis? An audit of 263 patients.

Background: Antineutrophil cytoplasm antibodies (ANCA) are used as diagnostic markers for small-vessel vasculitis of the Wegener Granulomatosis-microscopic polyangiitis (WG-MPA) spectrum, but if testing is applied indiscriminately, its value is diminished. The authors measured the effect of a targeted ANCA testing policy introduced in our institution in an attempt to improve the diagnostic value of testing in patients with suspected vasculitis.

Methods: The authors measured the rate of ANCA requests at a single regional centre in the year prior to and following the introduction of clinical guidelines to ensure appropriate test usage.

Drugs and nutrition: how side effects can influence nutritional intake.

There are many factors that can influence nutritional intake. Food availability, physical capability, appetite, presence of gastrointestinal symptoms and perception of food are examples. Drug therapy can negatively influence nutritional intake through their effect on these factors, predominantly due to side effects.

Do all patients with hematologic malignancies and severe thrombocytopenia need prophylactic platelet transfusions? Background, rationale, and design of a clinical trial (trial of platelet prophylaxis) to assess the effectiveness of prophylactic platelet transfusions.

Although considerable advances have been made in many aspects of platelet transfusion therapy in the last 30 years, some areas continue to provoke debate, including the use of prophylactic platelet transfusions for the prevention of thrombocytopenic bleeding in patients with bone marrow failure. We have designed a randomized controlled trial to compare prophylactic platelet use with a threshold of a platelet count of 10 x 10(9)/L with no prophylaxis in adult thrombocytopenic patients with hematologic malignancies. The trial question is whether a no-prophylactic policy for the use of platelet transfusions in patients with hematologic malignancies is not inferior to a threshold prophylactic policy at 10 x 10(9)/L, for bleeding at World Health Organization (WHO) grade 2, 3, or 4, up to 30 days from randomization.

NOD2 polymorphisms in clinical phenotypes of common variable immunodeficiency disorders.

Common variable immunodeficiency disorders (CVIDs) are a heterogeneous group of diseases characterized by hypogammaglobulinaemia and consequent susceptibility to infection. CVID patients commonly develop a variety of additional manifestations for which the causative factors are not fully understood. Two such manifestations are granulomatous disease and enteropathy.