Ornithine transcarbamylase (OTC) deficiency is an X-linked disorder of urea synthesis. Among females who carry a mutant OTC allele, there is a wide range of phenotypic variability, ranging from apparent normality to a severe onset and the resulting profound neurologic impairment observed in hemizygous males. This study was designed to define the phenotypic variability of OTC deficiency in ostensibly healthy carrier females and to compare them to noncarrier females from their own and other families. One hundred seventy-five women from 89 families participated in this study. Each completed a mailed questionnaire, allopurinol testing, and fasting plasma amino acid determinations. OTC carrier status was determined by pedigree analysis, allopurinol test results, and/or DNA mutation analysis. Overall, 79 women were identified as carriers of a mutant OTC allele (60 proband mothers, 19 relatives), and 96 women (32 proband mothers, 64 female relatives) were determined to be noncarriers. Comparison of biochemical phenotypes indicated that carriers and noncarriers do not differ in daily urinary creatinine excretion, but that carriers excrete significantly less urea nitrogen and total nitrogen, reflecting their significantly lower historically reported daily protein intake. Carriers had significantly higher levels of fasting plasma glutamine and alanine, and significantly lower levels of citrulline and arginine compared with noncarriers. Carriers and noncarriers reported similar demographic characteristics, anthropometric measurements, level of education, and medical and pregnancy histories. There was no indication of increased incidence of migraine headaches among carriers. Thus, we found no evidence that asymptomatic adult female OTC heterozygotes are at increased risk for previously unidentified health problems apart from an unknown risk for hyperammonemic encephalopathy as occurred in 3 of the carriers in this study. Because these episodes appear to be related to physiologic stress (fracture, parturition), it would seem medically prudent for carriers to be aware of this risk.
Purpose To describe the challenges shared by schools of nursing and precepting institutions in meeting the clinical rotation requirements for nurse practitioner (NP) students. A formal process was developed to screen students and provide appropriate clinical placement with ongoing evaluations. Detailed description of a preceptor class for NPs is offered. Data sources Single institution NP survey, preceptor class participant survey, author experience, and PubMed, CINAHL. Conclusions The barriers to precepting are well known, particularly from the viewpoint of schools of nursing. This article describes the barriers from a precepting institution's standpoint. Standardizing processes and expectations for NP students and preceptors improves the overall efficiency, effectiveness, and safety of the clinical experiences. Implications for practice Highlights of an NP preceptor class and efforts to streamline precepting arrangements are described. Lessons learned, including the need to minimize paperwork burden on students during the preclinical period and the continued need for improvement of evaluation tools, are discussed. Recommendations for ways to blend specialty rotations with primary care rotations are made.
Large doses of vitamin D are frequently necessary to suppress secondary hyperparathyroidism in patients with primary osteoporosis and osteopenia. This suggests that vitamin D metabolism may be altered in some of these patients.
T ricuspid valve endocarditis is a frequent complication of intravenous drug use (IVDU). An unusual case of tricuspid valve endocarditis with extension of a complicated mass into the left atrium through a patent foramen ovale (PFO) is reported. This complication was detected by transthoracic echocardiography and resolved within days of antibiotic treatment, leaving two residual tricuspid valve vegetations. CASE prESEntAtionA 37-year-old woman with a history of IVDU presented to the hospital with fever, hematuria and general malaise. She had been feeling unwell for one month before presentation and was experiencing persistent shortness of breath. The patient also described progressively increasing abdominal and neck pain. She had associated nausea, vomiting, fatigue and polyarthralgia, and had no known history of valve abnormality.On examination, the patient was febrile and was found to have a supine blood pressure of 111/67 mmHg with a sitting blood pressure of 90/57 mmHg. She had a heart rate of 130 beats/min and a respiratory rate of 22 breaths/min. She was hypoxic, and had diffuse abdominal, flank and costophrenic tenderness. Her jugular venous pulsation was elevated and she was found to have a grade 2/6 systolic murmur, loudest at the right upper sternal border, which had not been previously documented. No other stigmata of infective endocarditis were elicited on physical examination.Laboratory investigations revealed a white blood cell count of 16.5×10 9 /L (normal range 4.0×10 9 /L to 10.5×10 9 /L) and a hemoglobin level of 75 g/L (normal range 120 g/L to 160 g/L). Her creatinine was elevated at 353 µmol/L (normal is 80 µmol/L or lower). Her erythrocyte sedimentation rate was 140 mm/h (normal range 0 mm/h to 27 mm/h). A qualitative urine drug screen was positive for opiates, cocaine metabolites, cannabinoids and benzodiazepines.A transthoracic echocardiogram confirmed the suspicion of endocarditis (Figures 1 and 2). The patient had a large right atrial mass (40 mm in length) extending from the tricuspid valve to the atrial septum and then into the left atrium. The left atrial component of the mass was bulkier than the right atrial component and measured 20 mm × 6 mm. The mass appeared to cross the septum through a PFO. The mass was associated with severe tricuspid regurgitation, and there was moderate pulmonary hypertension with a pulmonary artery systolic pressure measured at 48 mmHg. Left and right ventricular size and systolic function were normal.Concurrently, the patient's blood cultures were positive for methicillin-sensitive Staphylococcus aureus. Computed tomography (CT) of the chest revealed the presence of bilateral pleural effusions and multiple areas of airspace disease suggestive of septic emboli.She was treated with fluid hydration, acetylsalicylic acid and intravenous cloxacillin 2 g every 4 h for eight weeks. Echocardiography conducted after seven days of treatment revealed significant improvement in the appearance of the tricuspid valve vegetation (Figure 3). The mass in the left atrium wa...
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