Frequencies of Functional Polymorphisms in Three Pharmacokinetic Genes of Clinical Interest within the Admixed Puerto Rican Population.

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.

Use of global assays to understand clinical phenotype in congenital factor VII deficiency.

Congenital factor VII (FVII) deficiency is characterized by genotypic variability and phenotypic heterogeneity. Traditional screening and factor assays are unable to reliably predict clinical bleeding phenotype and guide haemorrhage prevention strategy. Global assays of coagulation and fibrinolysis may better characterize overall haemostatic balance and aid in haemorrhagic risk assessment.

First case of dizygotic twins with lamellar ichthyosis in Puerto Rico.

Lamellar 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.

Hemostatic matrix application after open synovectomy in a hemophilic patient.

Recurrent, 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.

Prevalence of a loss-of-function mutation in the proton-coupled folate transporter gene (PCFT-SLC46A1) causing hereditary folate malabsorption in Puerto Rico.

Objective: 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.

Asymptomatic child heterozygous for hemoglobin S and hemoglobin Pôrto Alegre.

Hemoglobin Pôrto Alegre (PA) is a rare hemoglobin resulting from a mutation in β9(A6)Ser → Cys. We describe an asymptomatic Puerto Rican female with combined heterozygosity for Hb PA and Hb S. Since birth, she has maintained normal hemoglobin, bilirubin, LDH levels, and reticulocyte count.

Newborn screening for hermansky-pudlak syndrome type 3 in Puerto Rico.

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.

Prevalence of combinatorial CYP2C9 and VKORC1 genotypes in Puerto Ricans: implications for warfarin management in Hispanics.

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.

Physiogenomic analysis of the Puerto Rican population.

Aims: 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.

Evidenced based management of neonatal hemangiolymphangioma: a case report.

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.

Training and retaining of underrepresented minority physician scientists - a Hispanic perspective: NICHD-AAP workshop on research in neonatology.

In a workshop organized by NICHD and the AAP in January 2004, we addressed and discussed issues related to a Hispanic perspective in Training and Retaining of underrepresented minority physician scientists in the United States. A review of the literature related to training of underrepresented minority physicians in the United States (US) was performed, giving emphasis to those related to the Hispanic population. Success and failure in training and retention of Hispanic physician scientists and trainees was examined.

Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico.

Hermansky-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.

Plasma nitric oxide levels used as an indicator of doxorubicin-induced cardiotoxicity in rats.

Introduction: The clinical efficacy of doxorubicin is severely limited by its cardiotoxicity. The currently noninvasive techniques used to detect this complication lack sensitivity to identify its early stages. Nitric oxide (NO) is a free radical that has been implicated in the etiology of doxorubicin-induced cardiotoxicity.

Poor response to desmopressin acetate (DDAVP) in children with Hermansky-Pudlak syndrome.

Background: 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.

A common mutation, Arg457-->Gln, links prothrombin deficiencies in the Puerto Rican population.

Five unrelated families with Puerto Rican ancestry were identified as having at least one member with bleeding due to a prothrombin deficiency. Genetic prothrombin deficiencies are extremely rare, but at the University of Puerto Rico Hemophilia Center, prothrombin deficiency is the third most common congenital coagulation factor deficiency. Because Puerto Rico is relatively isolated, there was a reasonable expectation of a founder effect.

Severe neutropenia in an infant with methylmalonic acidemia.

Neutropenia 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.

Chemotherapy during pregnancy and its effects on the fetus--neonatal myelosuppression: two case reports.

Cancer during pregnancy is infrequent. It presents an ethical dilemma--remission may be obtained with chemotherapy, but it has potential harmful effects to the fetus. We report a case of a very low birth weight preterm female infant born to a 21-year-old mother diagnosed with leukemia and given chemotherapy up to 1 week before delivery.

Financial aspects of haemophilia care in Puerto Rico and other Latin American countries.

The present cost of optimal care in haemophilia is very high. The paradigm of comprehensive care approach, including the essential elements of continuous integrated multidisciplinary health services and the provision of home care with early use of antihaemophilic products requires abundant economic resources that usually are not readily available in nonaffluent countries. A cost-effective comprehensive paediatric haemophilia programme has been operating in Puerto Rico during the last 15 years that provides quality care to over 90% of paediatric haemophiliacs, and is financed mainly by the local government health system.

Characterization of hemoglobin Hotel Dieu in a Puerto Rican adolescent.

Purpose: Hemoglobin Hotel Dieu (HbHD) is a high-oxygen affinity variant of HbA never before reported in a Hispanic patient. This Hb variant was first reported in 1981 by Blouquit et al. in a white person with erythrocytosis with a substitution in the beta 99 aspartic acid residue by glycine.

Solvent/detergent-treated plasma suppresses shear-induced platelet aggregation and prevents episodes of thrombotic thrombocytopenic purpura.

Two children with congenital chronic relapsing thrombotic thrombocytopenic purpura (TTP) have episodes every 3 weeks. These relapses can be prevented by the infusion of normal fresh-frozen plasma (FFP) without concurrent plasmapheresis. We conducted a study to determine whether the exposure of normal plasma to agents that inactivate human immunodeficiency virus and other viruses destroys the component necessary for the effective treatment of this type of TTP that requires only plasma infusion to prevent or reverse relapses.

Response of patients with hemophilia A and von Willebrand disease to desmopressin (DDAVP).

Factor VIII (FVIII) response to desmopressin (deamino-8-D-arginine vasopressin, abbreviated DDAVP) was studied in patients with mild Hemophilia A and von Willebrand Disease (vWD) who attend our Hemophilia Clinic. Thirty eight children and 9 adults had their F VIII components assayed 60 minutes after intravenous (IV) administration of DDAVP, 0.35 microgram/kg.