Comparison of manual and suction pump aspiration techniques for performing bronchoalveolar lavage in 18 dogs with respiratory tract disease.

BACKGROUND: Different aspiration techniques to retrieve bronchoalveolar lavage fluid (BALF) affect sample quality in healthy dogs. Studies evaluating these techniques in dogs with respiratory disease are lacking. OBJECTIVES: To compare sample quality of BALF acquired by manual aspiration (MA) and suction pump aspiration (SPA). ANIMALS: Eighteen client-owned dogs with respiratory disease. METHODS: Randomized, blinded prospective clinical trial. Manual aspiration was performed with a 35-mL syringe attached directly to the bronchoscope biopsy channel and SPA was performed with a maximum of 50 mmHg negative pressure applied to the bronchoscope suction valve using the suction trap connection. Both aspiration techniques were performed in each dog on contralateral lung lobes, utilizing 2 mL/kg lavage volumes per site. Samples of BALF were analyzed by percentage of retrieved infusate, total nucleated cell count (TNCC), differential cell count, semiquantitative assessment of slide quality, and diagnosis score. Data were compared by paired Student's t-test, Wilcoxon signed-rank test, chi-squared test, and ANOVA. Cohen's kappa coefficient was used to assess agreement. RESULTS: The percentage of retrieved BALF (P = .001) was significantly higher for SPA than MA. Substantial agreement was found between cytologic classification of BALF obtained with MA and SPA (kappa = 0.615). There was no significant difference in rate of definitive diagnosis achieved with cytologic assessment between techniques (P = .78). CONCLUSIONS AND CLINICAL IMPORTANCE: Suction pump aspiration, compared to MA, improved BALF retrieval, but did not significantly affect the rate of diagnostic success of bronchoalveolar lavage (BAL) in dogs with pulmonary disease.

Molecular analysis of novel PROP1 mutations associated with combined pituitary hormone deficiency (CPHD).

OBJECTIVE: Homozygous mutations in the gene encoding the pituitary transcription factor PROP1 are associated with combined pituitary hormone deficiency (CPHD) in both mice and humans with a highly variable phenotype with respect to the severity and time of initiation of pituitary hormone deficiency. We have ascertained three pedigrees with PROP1 mutations from a large cohort of patients with variable degrees of CPHD who were screened for mutations in PROP1. RESULTS: Affected individuals from all three pedigrees were found to harbour novel PROP1 mutations. We have identified two siblings in one family who were homozygous for an intronic mutation (c.343-11C > G) that disrupts correct splicing resulting in the loss of exon 3 from the PROP1 transcript. Two siblings from a second, unrelated family are compound heterozygotes for two point mutations in the coding region, a missense mutation (p.R125W) that leads to impaired transcriptional activation, and a deletion of a single nucleotide (c.310delC) resulting in a frameshift and nonfunctional mutant protein. Additionally, we identified a homozygous deletion of the PROP1 locus in two patients born to consanguineous parents. CONCLUSION: Mutations in PROP1 are a frequent cause of familial CPHD. We have described four novel mutations in PROP1 in 3 pedigrees, all resulting in PROP1 deficiency by different mechanisms. The phenotypic variation observed in association with PROP1 mutations both within and between families, together with the evolving nature of hormone deficiencies and sometimes changing pituitary morphology indicates a need for continual monitoring of these patients.

Degree of facial and body terminal hair growth in unselected black and white women: toward a populational definition of hirsutism.

CONTEXT: Hirsutism (i.e. facial and body terminal hair growth in a male-like pattern in women) is the principal clinical sign of hyperandrogenism, although its definition remains unclear. OBJECTIVE: The purposes of the present study were to define 1) the degree of facial and body terminal hair, as assessed by the modified Ferriman-Gallwey (mFG) score, in unselected women from the general population; 2) the effect of race (Black and White) on the same; and 3) the normative cutoff values. DESIGN AND SETTING: We conducted a prospective observational study at a tertiary academic medical center. PATIENTS/PARTICIPANTS: Participants included 633 unselected White (n = 283) and Black (n = 350) women presenting for a preemployment physical exam. INTERVENTIONS: Interventions included history and physical examination. MAIN OUTCOME MEASURES: Terminal body hair growth was assessed using the mFG scoring system; nine body areas were scored from 0-4 for terminal hair growth distribution. RESULTS: The mFG scores were not normally distributed; although cluster analysis failed to identify a natural cutoff value or clustering of the population, principal component and univariate analyses denoted two nearly distinct clusters that occurred above and below an mFG value of 2, with the bulk of the scores below. Overall, an mFG score of at least 3 was observed in 22.1% of all subjects (i.e. the upper quartile); of these subjects, 69.3% complained of being hirsute, compared with 15.8% of women with an mFG score below this value, and similar to the proportion of women with an mFG score of at least 8 who considered themselves to be hirsute (70.0%). Overall, there were no significant differences between Black and White women. CONCLUSIONS: Our data indicate that the prevalence and degree of facial and body terminal hair growth, as assessed by the mFG score, is similar in Black and White women and that an mFG of at least 3 signals the population of women whose hair growth falls out of the norm.