The Pregnant Patient: Managing Common Acute Medical Problems.

Women often see their primary care physicians for common acute conditions during pregnancy. These conditions may be caused by pregnancy (obstetric problems) or worsened by pregnancy (obstetrically aggravated problems), or they may require special consideration during pregnancy because of maternal or fetal risks (nonobstetric problems). Primary care physicians should know the differential diagnosis for common conditions during pregnancy and recognize the important findings of obstetric and urgent nonobstetric problems. The family physician can evaluate and treat most nonobstetric problems, although obstetric problems require referral to a primary maternity care clinician. A tiered approach, including routinely looking for all-cause red flag symptoms and signs, while remaining aware of estimated gestational age, allows for high-quality care and shared decision making between the family physician and the pregnant patient. When treating common causes of nausea and epigastric pain/gastroesophageal reflux, lifestyle modifications are considered the safest and first-choice therapy, followed by well-established low-risk therapies, such as vitamin B6 (pyridoxine) and doxylamine for nausea, and antacids not containing salicylates (found in bismuth combination products) for gastroesophageal reflux. Other common conditions during pregnancy are best treated with low-risk therapies, such as using antihistamines or topical steroids for rashes, first-generation cephalosporins or amoxicillin for cystitis, and physical therapy and acetaminophen for low back pain and headaches.

Pheno4J: a gene to phenotype graph database.

SUMMARY: Efficient storage and querying of large amounts of genetic and phenotypic data is crucial to contemporary clinical genetic research. This introduces computational challenges for classical relational databases, due to the sparsity and sheer volume of the data. Our Java based solution loads annotated genetic variants and well phenotyped patients into a graph database to allow fast efficient storage and querying of large volumes of structured genetic and phenotypic data. This abstracts technical problems away and lets researchers focus on the science rather than the implementation. We have also developed an accompanying webserver with end-points to facilitate querying of the database. AVAILABILITY AND IMPLEMENTATION: The Java and Python code are available at https://github.com/phenopolis/pheno4j. CONTACT: n.pontikos@ucl.ac.uk. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.

Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data.

SUMMARY: Phenopolis is an open-source web server providing an intuitive interface to genetic and phenotypic databases. It integrates analysis tools such as variant filtering and gene prioritization based on phenotype. The Phenopolis platform will accelerate clinical diagnosis, gene discovery and encourage wider adoption of the Human Phenotype Ontology in the study of rare genetic diseases. AVAILABILITY AND IMPLEMENTATION: A demo of the website is available at https://phenopolis.github.io . If you wish to install a local copy, source code and installation instruction are available at https://github.com/phenopolis . The software is implemented using Python, MongoDB, HTML/Javascript and various bash shell scripts. CONTACT: n.pontikos@ucl.ac.uk. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.

Acute lumbar disk pain: navigating evaluation and treatment choices.

Acute lumbar disk herniations are the most common cause of sciatica. After excluding emergent causes, such as cauda equina syndrome, epidural abscess, fracture, or malignancy, a six-week trial of conservative management is indicated. Patients should be advised to stay active. If symptoms persist after six weeks, or if there is worsening neurologic function, imaging and invasive procedures may be considered. Most patients with lumbar disk herniations improve over six weeks. Because there is no difference in outcomes between surgical and conservative treatment after two years, patient preference and the severity of the disability from the pain should be considered when choosing treatment modalities. If a disk herniation is identified that correlates with physical findings, surgical diskectomy may improve symptoms more quickly than continued conservative management. Epidural steroid injections can also provide short-term relief.

Pertussis: a disease affecting all ages.

Bordetella pertussis is a highly contagious bacterium known to cause pertussis (whooping cough) and is transmitted via airborne droplets. Although childhood vaccination has dramatically reduced reported pertussis cases, the incidence of the disease has increased over the past 20 years, most notably in previously immunized adolescents and adults. Pertussis should be suspected in patients of all ages with cough who meet the clinical criteria for the disease. Diagnostic tests currently approved by the U.S. Food and Drug Administration for pertussis infection have low sensitivity. Regardless of test results, physicians should treat clinically suspected pertussis with antimicrobials and report cases to their state health department. A 14-day erythromycin regimen has been the treatment of choice; however, shorter-course macrolide antibiotics (e.g., azithromycin, clarithromycin) may be as effective with fewer adverse effects and better adherence to therapy. The recently recommended tetanus toxoid, reduced diphtheria toxoid, and acellular pertussis (Tdap) vaccine for adolescents and adults may decrease the incidence of pertussis in infants--the group at the greatest risk of pertussis complications.