Rethinking the consultation paradigm: Validity evidence for a new framework, a multimethods study.

BACKGROUND: In-hospital consultation is essential for patient care. We previously proposed a framework of seven specific consultation types to classify consult requests to improve communication, workflow, and provider satisfaction. METHODS: This multimethods study's aim was to evaluate the applicability of the consult classification framework to real internal medicine (IM) consults. We sought validity evidence using Kane's validity model with focus groups and classifying consult requests from five IM specialties. Participants attended five 1 h semi-structured focus groups that were recorded, transcribed, and coded for thematic saturation. For each specialty, three specialists and three hospitalists categorized 100 (total 500) random anonymized consult requests. The primary outcome was concordance in the classification of consult requests, defined as the sum of partial concordance and perfect concordance, where respectively 4-5/6 and 6/6 participants classified a consult in the same category. We used χ2 tests to compare concordance rates across specialties and between specialists and hospitalists. RESULTS: Five major themes were identified in the qualitative analysis of the focus groups: (1) consult question, (2) interpersonal interactions, (3) value, (4) miscommunication, (5) consult framework application, barriers, and iterative development. In the quantitative analysis, the overall concordance rate was 88.8% (95% confidence interval [CI]: 85.7-91.4), and perfect concordance was 46.6% (95% CI: 42.2-51.1). Concordance differed significantly between hospitalists and specialists overall (p = .01), with a higher proportion of hospitalists having perfect concordance compared to specialists (67.2% vs. 57.8%, p = .002). CONCLUSIONS: The consult classification framework was found to be applicable to consults from five different IM specialties, and could improve communication and education.

Incidence, risk factors, and clinical implications of post-operative delirium in lung transplant recipients.

BACKGROUND: Delirium significantly affects post-operative outcomes, but the incidence, risk factors, and long-term impact of delirium in lung transplant recipients have not been well studied. METHODS: We analyzed 155 lung transplant recipients enrolled in the Lung Transplant Outcomes Group (LTOG) cohort at a single center. We determined delirium incidence by structured chart review, identified risk factors for delirium, determined whether plasma concentrations of 2 cerebral injury markers (neuron-specific enolase [NSE] and glial fibrillary acidic protein [GFAP]) were associated with delirium, and determined the association of post-operative delirium with 1-year survival. RESULTS: Fifty-seven (36.8%) patients developed post-operative delirium. Independent risk factors for delirium included pre-transplant benzodiazepine prescription (relative risk [RR] 1.82; 95% confidence interval [CI] 1.08 to 3.07; p = 0.025), total ischemic time (RR 1.10 per 30-minute increase; 95% CI 1.01 to 1.21; p = 0.027), duration of time with intra-operative mean arterial pressure <60 mm Hg (RR 1.07 per 15-minute increase; 95% CI 1.00 to 1.14; p = 0.041), and Grade 3 primary graft dysfunction (RR 2.13; 95% CI 1.27 to 3.58; p = 0.004). Ninety-one (58.7%) patients had plasma available at 24 hours. Plasma GFAP was inconsistently detected, whereas NSE was universally detectable, with higher NSE concentrations associated with delirium (risk difference 15.1% comparing 75th and 25th percentiles; 95% CI 2.5 to 27.7; p = 0.026). One-year mortality appeared higher among delirious patients, 12.3% compared with 7.1%, but the difference was not significant (p = 0.28). CONCLUSIONS: Post-operative delirium is common in lung transplant recipients, and several potentially modifiable risk factors deserve further study to determine their associated mechanisms and predictive values.

Thyroid function in PMM2-CDG: diagnostic approach and proposed management.

Glycoproteins are essential in the production, transport, storage and regulation of thyroid hormones. Altered glycosylation has a potential impact on thyroid function. Abnormal thyroid function tests have been described in patients with congenital disorders of glycosylation. We evaluated the reliability of biochemical markers and investigated thyroid function in 18 PMM2-CDG patients. We propose an expectative therapeutic approach for neonates with thyroid abnormalities in CDG.

Lymphatic edema in congenital disorders of glycosylation.

Congenital disorders of glycosylation (CDG) are a group of metabolic disorders caused by deficient protein glycosylation. PMM2-CDG, the most common CDG, is caused by phosphomannomutase (PMM) deficiency. Clinical symptoms often include neurological involvement in addition to dysmorphic features, failure to thrive, cardiac failure, renal, and endocrine abnormalities. To our knowledge, lymphatic edema in CDG has not been reported. We present two cases of lymphatic edema in PMM2-CDG patients. The first patient was noted to have a larger right leg circumference at two years. Ultrasound investigations did not reveal any obvious vascular or lymphatic malformation. The swelling increased in size over time. At 12 years, lymphoscintigraphy revealed decreased lymphatic draining in both legs, which was more profound in the right leg. The second patient was treated for pulmonary stenosis at age 2 months. Postoperative, the patient suffered from protein-losing enteropathy, hypothyroidism, recurrent bacterial infections, and bilateral lymphatic edema. General condition improved after thyroxin treatment and albumin infusions; however, the bilateral pedal and leg edema remained unresolved. Contrast studies of the lymphatic system showed bilateral hypoplasia distal to the knees. Although both children had secondary factors worsening lymphatic edema in PMM2-CDG, hypoalbuminemia, recurrent infections, cardiac failure, and endocrine abnormalities could not fully explain the clinical features. The additional factors were treated successfully but the therapy did not resolve the lymphatic edema. Based on the abnormal imaging studies of the lymphatic system, we propose that lymphatic vessel hypoplasia is the major cause for lymphatic edema in our patients with PMM2-CDG.

Congenital disorders of glycosylation: sweet news.

PURPOSE OF REVIEW: Congenital disorders of glycosylation (CDG) have grown enormously since the discovery of the first protein glycosylation defect in 1980, presenting with a broad clinical spectrum. Expansion in number and complexity of the CDG group has even necessitated a new nomenclature. By 2011, the CDG group includes lipid glycosylation disorders and other related processes and almost 50 distinct disorders. RECENT FINDINGS: Current research has not only expanded the spectrum of CDG types, but has also given novel insight into those previously described. The discovery of genetic defects in the conserved oligomeric Golgi complex, affecting protein glycosylation and processing through the secretory pathway, raised the concept of 'secondary' glycosylation disorders. The number of lipid glycosylation disorders, linking lipid synthesis to CDG, that were previously regarded as rare, is also increasing rapidly. In other areas of research, the bridge between muscular dystrophies and metabolic disorders is being further reinforced with the discovery of additional defects in the DPM-CDG subgroup, a CDG characterized by significant muscle involvement. SUMMARY: It is of great importance that clinicians stay up-to-date on the field of CDG and consider it in their differential diagnosis of unknown syndromal presentations. Nevertheless, many advances have yet to be made, including information on the natural course of CDG. The lack of treatment for nearly all CDG types is striking, and the field must continue to push for innovative therapies. Clinicians and researchers must work together to describe the natural course and, most importantly, collaborate to find new therapies.

Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression.

Congenital disorders of glycosylation (CDG) are a group of clinically heterogeneous inborn errors of metabolism. At present, treatment is available for only one CDG, but potential treatments for the other CDG are on the horizon. It will be vitally important in clinical trials of such agents to have a clear understanding of both the natural history of CDG and the corresponding burden of disability suffered by patients. To date, no multicentre studies have attempted to document the natural history of CDG. This is in part due to the lack of a reliable assessment tool to score CDG's diverse clinical spectrum. Based on our earlier experience evaluating disease progression in disorders of oxidative phosphorylation, we developed a practical and semi-quantitative rating scale for children with CDG. The Nijmegen Paediatric CDG Rating Scale (NPCRS) has been validated in 12 children, offering a tool to objectively monitor disease progression. We undertook a successful trial of the NPCRS with a collaboration of nine experienced physicians, using video records of physical and neurological examination of patients. The use of NPCRS can facilitate both longitudinal and natural history studies that will be essential for future interventions.