Neonatal respiratory distress in near-term infants—consider surfactant protein B deficiency

Two infants presenting with respiratory distress in the first 24 h of life are described. Both patients underwent extensive investigation before the diagnosis of surfactant protein B-deficiency was reached. Both children died within 2 months of birth. Parental consanguinity was known to be a feature in the first case, who proved to have a previously unrecognized mutation of the surfactant protein B gene. In the second case, a history of parental consanguinity was not sought from the Caucasian family, but was later volunteered by the parents themselves. Case 2 proved to have the "common" surfactant protein B-deficient genotype. The key to diagnosis is having a high index of suspicion in any term or near-term newborn with severe respiratory distress; parental consanguinity must be excluded. Surfactant protein B-deficiency can be readily diagnosed from bronchoalveolar lavage specimens; a simple, inexpensive procedure which is well tolerated in newborns.     

Detection of renal masses: sensitivities and specificities of excretory urography/linear tomography, US, and CT

A prospective blinded study of 201 patients was performed to determine the relative sensitivities and specificities of excretory urography/linear tomography (EU/LT) and ultrasound (US) for the diagnosis of renal parenchymal masses. Computed tomography (CT) was used as a standard. EU/LT permitted detection of 10% of CT-confirmed masses (cystic or solid) less than 1 cm, 21% of lesions greater than or equal to 1 cm but less than 2 cm, 52% of lesions greater than or equal to 2 cm but less than 3 cm, and 85% of lesions 3 cm or more in diameter. US permitted detection of 26% of CT-confirmed lesions less than 1 cm, 60% of lesions greater than or equal to 1 cm but less than 2 cm, 82% of lesions greater than or equal to 2 cm but less than 3 cm, and 85% of lesions 3 cm or more in size. The results confirm the relative insensitivity of EU/LT for masses less than 3 cm in diameter and of US for masses less than 2 cm. Further, they suggest that CT may have a role not only in evaluation of cases in which the urographic or sonographic results are questionable or positive, but also in confirmation of apparently negative urographic findings when clinical suspicion of a lesion is high.     

Bone marrow in leukemia and aplastic anemia: MR imaging before, during, and after treatment

Serial magnetic resonance (MR) studies of the cervical bone marrow were performed in five patients undergoing bone marrow transplantation for chronic granulocytic leukemia and in four patients with aplastic anemia who were treated with antilymphocytic globulin. Findings were compared with those from a group of healthy volunteers. Chemical shift imaging techniques were used to exploit the presence of protons in fat and water in the red marrow. Characteristic changes were seen in aplastic anemia before treatment, but derivation of images representing fat and water fractions was necessary to distinguish leukemic marrow. Acute changes during the treatment of leukemia may reflect the effects of chemotherapy and radiation therapy, whereas changes in the chronic phase of both diseases may prove useful in predicting treatment outcome. MR studies are likely to be useful in the assessment and treatment of hematologic disorders.     

Failing arteriovenous dialysis fistulas: evaluation and treatment

A total of 31 patients with 45 episodes of failing arteriovenous dialysis fistulas was studied. Fistula failure was usually due to venous and/or anastomotic stenosis, often in conjunction with thrombosis. Abnormalities were treated by percutaneous dilation and occasionally streptokinase infusion. Most complications and failures occurred either in patients with recently created fistulas or in those with multiple or long segment stenosis associated with thrombosis. Patients with a single nonobstructing stenosis were very successfully treated with percutaneous techniques, which are the treatment of choice for this condition.     

Ultrasonography of alcoholic liver disease with histological correlation

In alcoholic liver disease (fatty infiltration, alcoholic cirrhosis), the liver is diffusely abnormal on ultrasound. Changes in size, dilatation of the hepatic veins, and ascites may also occur. The authors conducted a histological correlation of these abnormalities in 22 alcoholic patients and 16 controls, grading the changes on a scale of 0 to 4+ for fat, fibrosis, and necrosis and noting tumor whenever present. Ultrasound detected abnormality in 21 cases (sensitivity = 95%) and correctly identified 15 controls (specificity = 94%). Of the 5 tumors seen, 4 hepatomas were detected and biopsied and 1 metastatic squamous-cell carcinoma was missed. Applications of commercially available A-scan module are considered and its limitations discussed. With the exception of minimal change (1+ fat or fibrosis), ultrasound detected many of the pathological changes seen in alcoholic liver disease.     

Detection of bacterial pathogens in cerebrospinal fluid using restriction fragment length polymorphism

Background: Polymerase chain reaction (PCR) is useful for rapid microbial detection in body fluids with low microbial load. It is easier to use universal or broad range primers for the amplification of conserved stretches of DNA common to all bacteria like 16S rRNA gene, followed by restriction fragment length polymorphism (RFLP) of PCR products.     

Longitudinal Changes in BMD and Fracture Risk in Orthotopic Liver Transplant Recipients Not Using Bone‐Modifying Treatment

Osteoporosis is prevalent in end‐stage liver disease, but data on long‐term changes in bone mineral density (BMD) and related fracture incidence after orthotopic liver transplantation (OLT) are scarce. We evaluated BMD changes up to 5 years in consecutive recipients of a successful OLT at the Leiden University Medical Centre between 2000 and 2011, in whom sequential BMD data were available. Spinal radiographs were available at time of screening and at 6 and 12 months post‐OLT and were assessed for vertebral fractures by two independent observers using Genant's semiquantitative method. Patients were excluded from the study when started on bisphosphonates. A total of 201 patients (71% men), median age 53 years (range, 18–70 years) were included in the study. Most common liver pathology was viral (27%) or alcoholic liver disease (25%). All patients received prednisone for at least 6 months after transplantation and the majority received either tacrolimus or cyclosporine for immunosuppression. At time of screening for OLT, osteoporosis and osteopenia were found in 18% and 36% of patients at the lumbar spine (LS), respectively, and in 9% and 42% at the femoral neck (FN), respectively. T‐scores declined significantly at both sites 6 months after OLT, but increased thereafter at the LS, reaching pretransplantation values at 2 years and remaining stable thereafter. FN T‐scores remained consistently lower than pretransplantation values. The prevalence of vertebral fractures increased from 56% at screening to 71% at 1 year after OLT, with a fracture incidence of 34%. BMD changes did not predict fracture risk. Osteoporosis, osteopenia, and vertebral fractures are prevalent in patients with end‐stage liver disease. An overall decline in BMD is observed within the first 6 months after OLT, with subsequent recovery to pretransplantation values at the LS, but not at the FN. Vertebral fracture risk is high after OLT regardless of changes in BMD. © 2014 American Society for Bone and Mineral Research.     

Report of the substance misuse in the undergraduate medical curriculum project in England

Introduction: This article reports on a Department of Health UK funded project to implement consensus substance misuse teaching in undergraduate curricula in medical schools in England. The aim was to better equip practising doctors of the future to deal with substance misuse issues.

Method: A project coordinator worked with local curriculum coordinators and academic champions in 19 participating medical schools. Substance misuse teaching was mapped using a toolkit outlining national learning outcomes as specified in Tomorrow's Doctors. This enabled a detailed overview of current substance misuse teaching, and identified gaps.

Results: Common areas for all schools requiring further development included iatrogenic addiction, professionalism, fitness to practice, attitudes and issues relating to stigma, child-related issues, and social consequences of substance misuse. Students reported lacking confidence in performing key skills, including substance use history taking, discussing options for patients wishing to reduce or stop use, and recommending appropriate help organisations. This led to medical schools developing new or enhanced learning outcomes and teaching materials.

Discussion: The project has, through national guidance and changes, enhanced the training and education of student doctors, and established a basis for substance misuse teaching that has already influenced the learning of our future doctors.