Objective: This cross-sectional study was aimed at determining the allele frequencies for the and (rs662) polymorphisms in the Puerto Rican population. The and genes are known to be associated with functional changes in drug metabolism and activation. Individuals carrying the aforementioned polymorphisms are at a higher risk of suffering from drug-induced adverse events and/ or unresponsiveness from a variety of drugs that includes antidepressants, atypical antipsychotics and antiplatelet compounds.
View Article and Find Full Text PDFLamellar Ichthyosis is a rare condition requiring thickened collodion-like skin for clinical diagnosis. These infants have abnormal epidermal barrier, which leads to serious complications. It may present with extensive skin lesions and should be considered a diagnostic possibility in sick neonates.
View Article and Find Full Text PDFRecurrent, spontaneous bleeding is common in patients with hemophilia. The joints are commonly and repeatedly affected, and this can result in chronic synovitis and joint damage. Synoviorthesis or synovectomy are indicated after failure of appropriate medical management.
View Article and Find Full Text PDFObjective: To determine whether subjects of Puerto Rican heritage are at increased risk for a specific mutation of the proton-coupled folate transporter (PCFT) causing hereditary folate malabsorption (HFM).
Study Design: Three percent of the births in Puerto Rico in 2005, with additional regional oversampling, were screened for the prevalence of the c.1082G>A; p.
Background: Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by albinism, mucocutaneous bleeding, and storage of ceroid material in macrophages. Patients who are not easily identified by physical characteristics (mostly HPS-3 patients) may have hemorrhagic complications with trauma or surgery.
Objective: To determine the prevalence of HPS-3 in Puerto Rican newborns using DNA pooling technique.
Polymorphisms in the cytochrome P450 2C9 (CYP2C9) and vitamin K epoxide reductase complex subunit 1 (VKORC1) genes significantly alter the effective warfarin dose. We determined the frequencies of alleles, single carriers, and double carriers of single nucleotide polymorphisms (SNPs) in the CYP2C9 and VKORC1 genes in a Puerto Rican cohort and gauged the impact of these polymorphisms on warfarin dosage using a published algorithm. A total of 92 DNA samples were genotyped using Luminex x-MAP technology.
View Article and Find Full Text PDFAims: Admixture in the population of the island of Puerto Rico is of general interest with regards to pharmacogenetics to develop comprehensive strategies for personalized healthcare in Latin Americans. This research was aimed at determining the frequencies of SNPs in key physiological, pharmacological and biochemical genes to infer population structure and ancestry in the Puerto Rican population.
Materials & Methods: A noninterventional, cross-sectional, retrospective study design was implemented following a controlled, stratified-by-region, random sampling protocol.
Hemangiolymphangioma is a mixed vascular malformation that is detected in the prenatal period by sonography. Five cases of prenatal diagnosis have been reported that have resulted in termination of pregnancy (two) or aggressive versus purely surgical post-natal management. We present the case of an infant with pre-natal diagnosis of a multicystic intra-abdominal mass that received surgical management followed by conservative treatment.
View Article and Find Full Text PDFHermansky-Pudlak syndrome (HPS) (MIM #203300) is a heterogeneous group of autosomal recessive disorders characterized by oculocutaneous albinism (OCA), bleeding tendency, and lysosomal dysfunction. HPS is very common in Puerto Rico (PR), particularly in the northwest part of the island, with a frequency of approximately 1:1,800. Two HPS genes and mutations have been identified in PR, a 16-base pair (bp) duplication in HPS1 and a 3,904-bp deletion in HPS3.
View Article and Find Full Text PDFBackground: Hermansky-Pudlak syndrome (HPS) is a common genetic disorder in Puerto Rico. In children with HPS, bleeding is the most disturbing and incapacitating problem. Desmopressin (1-deamino-8-D-arginine vasopressin, (DDAVP)) has been recommended in the management of bleeding disorders characterized by platelet dysfunction, such as HPS.
View Article and Find Full Text PDFNeutropenia exists when the neutrophil counts is less than 1000/mm3 in infants between 2 weeks and 1 year of age and less than 1500/mm3 beyond 1 year of age (1). Severe infections occur when the absolute neutrophil count is below 500/mm3 with perirectal abscesses, pneumonia, and sepsis being common. Granulocyte Colony-Stimulating Factor (G-CSF) produces a sustained neutrophil recovery in patients with severe neutropenia, reduces the incidence and severity of infection, and improves the quality of life.
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