Recognizing the Role of the Adult-Gerontology NP.

Whether certified in acute or primary care, AGNPs are prepared for many practice settings.

Transitions of Care Considerations for Nephrology Patients.

The need for a workforce able to address the health care needs of older adults has been well established. Individuals with kidney disease experience an extensive number of transitions of care across health care settings related to the kidney disease process and the number of health care providers involved in their care. Kidney disease is multifactorial, and the prevention of progression of disease and poor outcomes are key to improving the health of individuals with kidney disease. Nurses and nurse practitioners can improve the outcomes for individuals with complex comorbid conditions and kidney disease especially during the transitions of care.

Superior sagittal sinus thrombosis complicating neck dissection.

OBJECTIVE: To report a superior sagittal sinus thrombosis occurring as a rare complication of neck dissection, and to present a review of published literature. CASE REPORT: A 42-year-old man underwent an elective neck dissection for a tumour stage 2, node stage 2b, tonsillar squamous cell carcinoma, prior to chemoradiotherapy. During surgery, the right internal jugular vein was sacrificed as part of the resection, as tumour was adherent to it. Two weeks after surgery, the patient was readmitted with seizures. Subsequent computed tomography and magnetic resonance venography confirmed a superior sagittal sinus thrombosis. The patient was subsequently anticoagulated and underwent radiotherapy without further complication. A review of pre-operative imaging indicated a dominant internal jugular vein, ligation of which may have been a factor in the subsequent sagittal sinus thrombosis. CONCLUSION: Superior sagittal sinus thrombosis following neck dissection is a rare occurrence, with little reported in the literature. Dominant internal jugular vein anatomy may be evident on pre-operative imaging. An awareness of this complication may be helpful to surgeons contemplating sacrifice of the internal jugular vein.

Bloodspot acylcarnitine and amino acid analysis in cord blood samples: efficacy and reference data from a large cohort study.

BACKGROUND: In order to test the feasibility of cord blood screening for inherited metabolic disease, a two-year cohort study of births in six obstetric units from five towns in the north of England was undertaken. These towns have a high prevalence of consanguineous marriages, largely among the immigrant Asian community. The purpose of the study was to determine whether early detection of metabolic disease was possible and whether early intervention would improve prognosis. METHODS: Following parental consent, cord blood samples were collected at birth and analysed for acylcarnitine and amino acid profiles by tandem mass spectrometry in one of two laboratories. One laboratory used butylated derivatives, the other used underivatized samples. The same laboratories performed routine blood spot neonatal screening at 5-7 days of age on these babies. Patients with positive results were investigated and treated by a metabolic paediatrician as soon as possible. RESULTS: 24,983 births were examined. 12,952 samples were analysed as butyl derivatives, 12,031 samples were analysed underivatized. The following disorders were detected: medium-chain acyl-CoA dehydrogenase (MCAD) deficiency (1 case), 3-methylcrotonyl-CoA carboxylase (MCC) deficiency (2 cases), maternal carnitine transporter defect (2 cases), maternal MCC (1 case). The following disorders were diagnosed subsequently but were not detected by the cord blood screening: phenylketonuria (PKU) (1 case), maple syrup urine disease (MSUD) (2 cases), argininosuccinic aciduria (1 case), methylmalonic acidaemia (MMA) (1 case), glutaric aciduria type 2 (1 case), MCAD deficiency (2 cases), 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (1 case). Comprehensive reference data for all analytes by both methods were obtained. CONCLUSIONS: Cord blood testing is of limited value in detecting inherited metabolic disease. The metabolites associated with most disorders examined were not elevated in cord blood. Some maternal disorders, carnitine transporter defect and 3-methlycrotonyl-CoA carboxylase deficiency, are detected. These remain of uncertain clinical significance. Comprehensive reference data have been obtained that will facilitate future interpretation of studies in cord blood.

The E3 ubiquitin ligase EDD is an adverse prognostic factor for serous epithelial ovarian cancer and modulates cisplatin resistance in vitro.

Despite a high initial response rate to first-line platinum/paclitaxel chemotherapy, most women with epithelial ovarian cancer relapse with recurrent disease that becomes refractory to further cytotoxic treatment. We have previously shown that the E3 ubiquitin ligase, EDD, a regulator of DNA damage responses, is amplified and overexpressed in serous ovarian carcinoma. Given that DNA damage pathways are linked to platinum resistance, the aim of this study was to determine if EDD expression was associated with disease recurrence and platinum sensitivity in serous ovarian cancer. High nuclear EDD expression, as determined by immunohistochemistry in a cohort of 151 women with serous ovarian carcinoma, was associated with an approximately two-fold increased risk of disease recurrence and death in patients who initially responded to first-line chemotherapy, independently of disease stage and suboptimal debulking. Although EDD expression was not directly correlated with relative cisplatin sensitivity of ovarian cancer cell lines, sensitivity to cisplatin was partially restored in platinum-resistant A2780-cp70 ovarian cancer cells following siRNA-mediated knockdown of EDD expression. These results identify EDD as a new independent prognostic marker for outcome in serous ovarian cancer, and suggest that pathways involving EDD, including DNA damage responses, may represent new therapeutic targets for chemoresistant ovarian cancer.

Carnitine transporter defect: diagnosis in asymptomatic adult women following analysis of acylcarnitines in their newborn infants.

Carnitine transporter defect (CTD) is an autosomal recessive disorder characterized by episodes of non-ketotic hypoglycaemia, hyperammonaemia and liver disease, or by the development of cardiomyopathy, both of which occur in infancy and childhood. Blood carnitine concentrations are extremely low. The diagnosis can be confirmed by finding abnormal fat oxidation and carnitine uptake in skin fibroblasts. The condition has not previously been thought to present later in life or to be benign. We report the identification of four women discovered to have CTD as a consequence of finding low carnitine concentrations in the cord blood or newborn samples from their infants. All four mothers had been asymptomatic and none had a cardiomyopathy.

Reference data for cerebrospinal fluid and the utility of amino acid measurement for the diagnosis of inborn errors of metabolism.

BACKGROUND: Cerebrospinal fluid (CSF) amino acid analysis is fundamental to the investigation of several inherited metabolic diseases, particularly those presenting with unexplained seizures. CSF glycine measurement is often crucial to the diagnosis of glycine encephalopathy (GE), low CSF serine concentrations are characteristic of 3-phosphoglycerate dehydrogenase deficiency (3-PGDD) and the presence of sulphocysteine is pathognomonic of sulphite oxidase deficiency (SOD), and a vital clue to molybdenum cofactor deficiency (MCD). Limited information is available in the literature on reference values of amino acids in CSF during infancy and CSF samples from healthy individuals are not easily obtained. METHODS: In order to establish paediatric CSF amino acid reference ranges, we performed a retrospective analysis of all quantitative CSF amino acid data collected in our laboratory over a five-year period. Amino acid analysis was performed using ion-exchange chromatography on a Biochrom-20 amino acid analyser with ninhydrin detection. CSF samples were collected from infants undergoing investigation for unexplained seizures. RESULTS: About 18 of the 95 samples received were excluded from the reference data-set; one was from a patient in whom a diagnosis of GE was confirmed by enzyme analysis, one was from a patient with CSF sulphocysteine of 19 micromol/L in whom a diagnosis of SOD was confirmed by enzyme analysis; the remaining 16 were clearly bloodstained (n = 4) or xanthochromic (n = 12). Frequency of distribution analysis revealed that concentration values for each amino acid demonstrated a right-skewed distribution which was not normalized by log transformation. Data were therefore analysed using non-parametric descriptive statistics and reference ranges were defined by the 2.5th and 97.5th centile limits. CONCLUSIONS: Our reference data were derived from 77 CSF samples taken from 77 infants. Median CSF glycine concentration was 9 micromol/L with a reference range of 3-19 micromol/L. For serine, the median CSF concentration was 52 micromol/L with a reference range of 25-105 micromol/L. Sulphocysteine was not normally present in detectable quantities (<1 micromol/L).

Time-dependent changes in the formation of titania-based films at the air-water interface.

The growth of surfactant-assisted titanium dioxide-based films at the air-water interface previously reported (Henderson et al. Aust. J. Chem. 2003, 56, 933) has been monitored with a time resolution of minutes over the whole growth period by X-ray energy-dispersive reflectometry. Two new phenomena are described: (a) short-term shifts in the Bragg spacing of the layer structure and (b) the periodic disappearance of the diffraction from the film. We associate these with changes in the chemistry of the reacting mixture, with changes in the packing of the templated titanium species, and with macroscopic and (possibly) microscopic rippling of the solid film during growth.

Cholesterol granuloma of the frontal sinus.

It is common to see cholesterol granuloma in the mastoid air cells, less common in the orbit, and uncommon in the paranasal sinuses. Cholesterol granuloma is thought to be due to an interruption to normal aeration with impaired lymphatic drainage, resulting in a closed cavity where it may form. These expanding cysts cause bone destruction and compression of the surrounding structures that lead to clinical symptoms. Diagnosis and management of cholesterol granuloma cysts can be challenging. Magnetic resonance imaging (MRI) and computed tomographic (CT) scans are usually diagnostic. We present a rare case of cholesterol granuloma in the frontal sinus, few cases have been reported in the literature.

Successful treatment of carbohydrate deficient glycoprotein syndrome type 1b with oral mannose.

An Asian girl presented with failure to thrive, congenital hepatic fibrosis, protein losing enteropathy, and hypoglycaemia. Phosphomannose isomerase activity in skin fibroblasts was reduced. She is homozygous for a mutation, D131N, in the phosphomannose isomerase gene (PM1), consistent with the diagnosis of carbohydrate deficient glycoprotein syndrome type 1b. She responded to oral mannose treatment.

Comparison of past and current barriers to novice nurse practitioner practice: The California perspective.

Novice nurse practitioners (NPs) face unique obstacles to practice. Few studies examine factors influencing early NP clinical performance. Therefore, this research project was designed to collect data from members of an NP professional organization who were asked to identify barriers encountered within the first 3 years of practice. Responses were received from 243 beginning and more experienced NPs. The top three barriers named were lack of public knowledge, lack of positions for NPs, and a lower salary than anticipated. The promotion of NP assets through expanded media coverage and individual educational efforts, the national standardization of the role, and the elimination of restrictive practice legislation can help reduce current barriers. Through the efforts of individuals, NP professional groups, and legislators, existing practice constraints can be mitigated, potential barriers anticipated, and solutions generated to ensure the continued success of this essential advanced practice role.