Expanding the Phenotype of 8p23.1 Deletion Syndrome: Eight New Cases Resembling the Clinical Spectrum of 22q11.2 Microdeletion.

OBJECTIVE: To report the effectiveness of early molecular diagnosis in the clinical management of rare diseases, presenting 8 patients with 8p23.1DS who have clinical features that overlap the phenotypic spectrum of 22q11.2DS. STUDY DESIGN: This report is part of a previous study that aims to provide a precocious molecular diagnosis of the 22q11.2 deletion syndrome in 118 infants with congenital heart disease. To confirm the clinical diagnosis, patients underwent comparative genomic screening by the multiplex ligation-dependent probe amplification (MLPA) assay with the SALSA MLPA probemix kits P064-B2, P036-E1, P070-B2, P356-A1, and P250- B1. Subsequently, the patients performed the genomic microarray using the Infinium CytoSNP-850K BeadChip to confirm the deletion, determine the breakpoints of the deletion, and search for genomic copy number variations. RESULTS: MLPA performed with 3 different kits revealed the 8p23.1 typical deletion involving the PPP1R3B, MSRA, and GATA4 genes in the 5 patients. The array analysis was performed on these 5 patients and 3 other patients (8 patients) who also had clinical suspicion of 22q11 deletion (8 patients) allowed a precise definition of the breakpoints and excluded other genomic abnormalities. CONCLUSIONS: Cytogenomic screening was efficient in establishing a differential diagnosis and ruling out the presence of other concomitant syndromes. The clinical picture of the 8p23.1 deletion syndrome is challenging; however, cytogenomic tools can provide an exact diagnosis and help to clarify the genotype-phenotype complexity of these patients. Our reports underline the importance of early diagnosis and clinical follow-up of microdeletion syndromes.

Dietary nutrient restrictions in the post-weaning period change Santa Inês ewe lamb nutritional metabolic profile.

The objective of this study was to evaluate the metabolic profile of Santa Inês ewe lambs fed diets for early or late-maturing diets with or without nutrient restrictions. The experiment consisted of a 2 × 2 completely randomized factorial experiment with either early- or late-maturity feed formulation according to "Nutrient Requirements of Small Ruminants" with or without 15% crude protein (CP) and total digestible nutrients (TDN) restrictions in diets formulated, five replications, and 20 ewe lambs averaging 15.1±2.6 kg. Lambs on early-maturity diets consumed greater (P<0.05) dietary ether extract (EE), non-fibrous carbohydrates, and TDN than those on late-maturity diets. Lambs on early-maturity diets had 7.11% greater dry matter digestibility (DMD) compared to lambs fed late-maturity diets. Lambs fed late-maturity diets, in general, had greater intake (IN), excreted (EN), and retained (RN) N as well as greater RN/IN and EN/IN ratios. There were no differences in blood total protein or albumin among lambs fed for different finishing maturity targets. Diets designed for late-maturing lambs resulted in greater microbial N and CP as well as rumen and metabolizable, degradable, and undegradable rumen and metabolizable CP. The selection of diets for early or late maturity carcasses depends on the production system goals. Diets without restrictions are recommended for early-maturity carcass finishing while diets with 15% CP and TDN restriction are recommend for late-maturity finishing.