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In vitro analysis showed that the Y59D mutant had significant impairment of cAMP generation, and both mutants caused a shift in the dose-response curve to the right when compared to wild type. Immunocytochemistry showed normal trafficking of MC2R when transfected with both mutant MRAPs, indicating a probable signaling defect. Conclusion Methods and Patients:The entire coding region of the FGF8 gene was amplified and sequenced in two well-phenotyped IHH probands and their relatives. Results: Two unique heterozygous nonsense mutations in FGF8 (p.R127X and p.R129X) were identified in two unrelated IHH probands, which were absent in 150 control individuals. These two mutations, mapped to the core domain of FGF8, impact all four human FGF8 isoforms, and lead to the deletion of a large portion of the protein, generating nonfunctional FGF8 ligands. The p.R127X mutation was identified in an 18-yr-old Kallmann syndrome female. Her four affected siblings with normosmic IHH or delayed puberty also carried the p.R127X mutation. Additional developmental anomalies, including cleft lip and palate and neurosensorial deafness, were also present in this family. The p.R129X mutation was identified in a 30-yr-old man with familial normosmic IHH and severe GnRH deficiency. Conclusions:We identified the first nonsense mutations in the FGF8 gene in familial IHH with variable degrees of GnRH deficiency and olfactory phenotypes, confirming that loss-of-function mutations in FGF8 cause human GnRH deficiency. Serum 25-Hydroxyvitamin D and Depressive Symptoms in Older Women and MenYuri Milaneschi, Michelle Shardell, Anna Maria Corsi, Rosamaria Vazzana, Stefania Bandinelli, Jack M. Guralnik, and Luigi Ferrucci Design and Setting:We conducted a population-based cohort study (InCHIANTI Study) in Tuscany, Italy. Participants: A total of 531 women and 423 men aged 65 yr and older participated. Main Outcome Measure: Serum 25(OH)D was measured at baseline. Depressive symptoms were assessed at baseline and at 3-and 6-yr follow-ups using the Center for Epidemiological Studies-Depression Scale (CES-D). Depressed mood was defined as CES-D of 16 or higher. Analyses were stratified by sex and adjusted for relevant biomarkers and variables related to sociodemographics, somatic health, and functional status. Results: Women with 25(OH)D less than 50 nmol/liter compared with those with higher levels experienced increases in CES-D scores of 2.1 (P ϭ 0.02) and 2.2 (P ϭ 0.04) points higher at, respectively, 3-and 6-yr follow-up. Women with low vitamin D (Vit-D) had also significantly higher risk of developing depressive mood over the follow-up (hazard ratio ϭ 2.0; 95% confidence interval ϭ 1.2-3.2; P ϭ 0.005). In parallel models, men with 25(OH)D less than 50 nmol/liter compared with those with higher levels expeEndocrine Reviews, June 2010, 31(3):396 -406 edrv.endojournals.org 397 Downloaded from https://academic.oup.

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The aim of the present study was to evaluate the genetic diversity of Ehrlichia canis in naturally infected dogs from six mesoregions of Rio de Janeiro state. E. canis was diagnosed with a real-time polymerase chain reaction (qPCR) targeting a 93 base pair (bp) fragment of the 16S rDNA gene. To evaluate the genetic diversity of the parasite, we amplified a positive sample from each mesoregion by distinct conventional PCR assays with targets in the gp19 (414 bp), gp36 (814 bp), and p28 (843 bp) genes. A total of 267 samples were collected from dogs in Rio de Janeiro state. Among the samples analyzed, 42.3% (n = 113/ 267) were 16S rDNA-qPCR positive. When performing PCR for the gp19 and gp36 genes, 100% (n = 113/113) and 5.3% (n = 6/ 113) of the samples amplified fragments of 414 bp and 814 bp, respectively. The six PCR-positive samples for the gp36 gene also amplified the p28 gene fragment. The characterization based on the gp19 gene demonstrated that it is highly conserved. In protein analysis (TRP36), all samples showed a tandem repeat protein (TRP) that comprised 11 replicates. Seven high-entropy amino acid sites were distributed throughout the gp36 gene. Eleven high-entropy amino acid sites were found throughout the p28 gene. There is a positive selection pressure in both genes (p ≤ 0.05). Comparing and characterizing an organism are useful for providing important information about the host's immune response and identifying new antigenic targets, as well as essential characteristics for the development of vaccines and new diagnostic tools.

Em trinta cães atendidos no Hospital Veterinário da Universidade Severino Sombra, com sinais clínicos e corpúsculos de inclusão de Sinegaglia Lentz em células sanguíneas, foram observadas as alterações hematológicas de anemia (80%); leucocitose (13,3%); leucopenia (10%); DNNE (33,3%); neutrofilia (46,7%); linfopenia (46,7%); linfocitose (6,7%); monocitose (13,3%) e trombocitopenia (36,7%). Além disso, observamos que 66,7% dos casos foram atendidos no verã; 80% dos animais tinham apenas infecções secundárias no primeiro atendimento; 41% dos cães não tinham raça definida (SRD) e 86,7 % dos animais tinham corpúsculo de inclusão vírica em linfócitos.

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