Depression Treatment: Alpha 1-Antitrypsin Phenotypes and Associated Serum Protein Concentrations in a Large Clinical Population.

Alpha 1-Antitrypsin Phenotypes and Associated Serum Protein Concentrations in a Large Clinical Population.

Filed under: Depression Treatment

Chest. 2012 Sep 24;
Bornhorst1 JA, Greene2 DN, Ashwood34 ER, Grenache34 DG

ABSTRACT BACKGROUND Alpha 1-antitrypsin (AAT) deficiency variants reduce the concentration of serum AAT protease inhibitor, and can lead to the development of pulmonary and hepatic disease. Relative frequencies of rare AAT variant phenotypes (non-M, Z, and S) and associated serum concentrations in the clinical population have not been thoroughly described. METHODS Protein phenotypes were determined by isoelectric focusing electrophoresis for 72,229 consecutive samples. Phenotype frequencies, median serum concentrations, and central 95% concentration intervals were determined for observed phenotypes. Concurrent AAT phenotype and concentration data were used to evaluate the efficacy of using serum AAT concentration alone to detect AAT deficiency. RESULTS Age, race, and gender had only slight effects on the median 95% serum protein concentration intervals of the 58,087 PiMM (wild-type) phenotype specimens. Positive predictive values were calculated for the detection of potential deficiency phenotypes at different serum cut-off concentrations, aiding potential screening effort design. For example, the PiZZ deficiency phenotype (n= 814) could be detected at 99.5% sensitivity and 96.5% specificity using a cutoff of ?85 mg/dL. However, “at-risk” specimens with two putative deleterious variants (Z, S, I, F, P, T and Null variants), were detected with only 85.9% sensitivity at this cutoff (n=1,661). Rare phenotype variants were observed in 2.5% of samples. CONCLUSIONS This analysis provides novel information on serum AAT concentrations associated with different AAT phenotypes, and provides insight into the severity of depression of AAT concentration in the presence of rare deficiency variants. Additionally, it allows for evaluation of efficacy of testing algorithms incorporating AAT serum concentration determination.1Department of Pathology, University of Arkansas for Medical Sciences, Little Rock AR, 72205. [email protected] Permanente Medical Group Regional Laboratories, Kaiser Permanente Northern California, Berkeley, CA 94710 [email protected] of Pathology, University of Utah School of Medicine, and [email protected]; [email protected] Laboratories Institute of Clinical and Experimental Pathology, Salt Lake City, UT, 84108, [email protected]; [email protected] Author: Joshua Bornhorst Ph.D., Assistant Professor of Pathology, University of Arkansas for Medical Sciences, 4301 W. Markham Street, Little Rock, AR, 72205, [email protected]/Support: Funding for this work was provided by the ARUP Institute for Clinical and Experimental pathology.
HubMed – depression


High Prevalence of Fibromyalgia in Patients with HFE-related Hereditary Hemochromatosis.

Filed under: Depression Treatment

J Clin Gastroenterol. 2012 Nov 21;
Mohammad A, Carey JJ, Storan E, Scarry M, Coughlan RJ, Lee JM

OBJECTIVES:: Subjects with HFE-related hereditary hemochromatosis (HH) may present with arthralgias, fatigue, and stiffness, yet little is known on the presence of fibromyalgia syndrome (FMS) in these subjects. We determined the prevalence of FMS in a cohort of subjects with HH and evaluated its relationship to subject demographics, disease status, and quality of life. METHODS:: In a cross-sectional study we collected data on 395 consecutive subjects diagnosed with HH who were attending a tertiary referral Hepatology outpatient clinic at Galway University Hospital, Ireland (between October 2009 and June 2010). Subjects underwent a standard assessment including history, clinical examination, and functional assessments for pain and disability. Univariate logistic regression was applied to determine risk factors independently associated with prevalent FMS in these subjects. RESULTS:: Three hundred ninety-five subjects met the inclusion criteria. Mean age was 43 years (range, 21 to 59 y) and 260 (66%) were males. One hundred seventy (43%) of the subjects were diagnosed with FMS. Among those with fibromyalgia fatigue and ?11 tender points were present in all of the subjects, widespread pain in 150 (88%), depression in 70 (41%), and arthralgia/joint stiffness in 70 (41%). In subjects with FMS 33% reported some functional impairment (HAQ-DI>0), with 10% reporting moderate-severe functional impairment (HAQ-DI?1.5). CONCLUSIONS:: This study reveals a high prevalence of FMS (43%) among subjects with HFE-related hemochromatosis. Prospective studies are needed to better understand the risk factors for FMS in such patients.
HubMed – depression


Occult Psychosocial Impairment in a Pediatric Emergency Department Population.

Filed under: Depression Treatment

Pediatr Emerg Care. 2012 Nov 26;
Claudius I, Mahrer N, Nager AL, Gold JI

OBJECTIVES: We compared the degree of psychosocial impairment in patients seen in the emergency department (ED) for acute complaints with that of patients presenting with chronic complaints using the Youth Pediatric Symptom Checklist (PSC-Y). Our hypothesis was that patients with multiple visits for chronic complaints (>3 health care visits for the chief complaint during the previous 12 months) would be more likely than patients with acute complaints to test positive for psychosocial issues. METHODS: The PSC-Y was administered to patients aged 8 to 18 years presenting to a pediatric ED for nonpsychiatric complaints. We compared proportions of patients testing positive for psychosocial impairment on the PSC-Y or any of its subscales. RESULTS: In the 442 patients enrolled, 25% endorsed chronic symptoms. There was a significant difference in the proportion of patients scoring positive for psychosocial impairment between the acute and chronic group (13.8% vs 18.1%, P = 0.002) as well as in the proportion of patients testing positive for attentional issues (6.4% vs 13.9%, P = 0.02). Each subscale was analyzed independently, and there were no statistically significant intergroup differences in internalizing symptoms (anxiety, depression) or externalizing symptoms (conduct issues). CONCLUSIONS: Patients with recurrent presentations for the same complaint had significantly higher rates of overall psychosocial impairment. Regardless of complaint acuity, impairment rates were notable, with 20% of patients reporting internalizing symptoms, such as anxiety and depression. Psychosocial issues should be considered in all pediatric ED patients but particularly those with greater than 3 health care visits for the same presenting complaint.
HubMed – depression


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