Puerto Rican Ancestry Research Articles

Albuminuria Risk in Hispanic Populations

For over a century, epidemiological and clinical studies have relied on self-report for race and ethnicity. Subjects have mostly been classified into oversimplified categories such as black, white, and Hispanic. In this issue of Circulation: Cardiovascular Genetics , Peralta et al report the results from an investigation of the association between albuminuria and ethnicity and race, measured by both self-report and genetic admixture analysis, which provides an estimate of each subject's unique ancestral heritage.1 Article see p 240 The authors chose to analyze albuminuria as the major phenotype because it is an important marker of chronic kidney disease (CKD) and a risk factor for progression of CKD.2,3 Furthermore, albuminuria has long been recognized as a major risk factor for cardiovascular morbidity and mortality. Mogensen discovered over 25 years ago that albuminuria is associated with increased all-cause mortality in patients with type 2 diabetes.4 Since then, it has been shown that among nondiabetic subjects with hypertension, microalbuminuria is associated with cardiovascular and cerebrovascular events5 as well as CKD risk.6 In healthier populations, albuminuria is also a risk factor for mortality7 and for mortality, myocardial infarction, and end-stage renal disease at all levels of glomerular filtration rate.8 The link between albuminuria and increased morbidity and mortality is not well understood but may reflect endothelial dysfunction among multiple vascular beds.9 The importance of microalbuminuria, typically defined as a urine albumin to creatinine ratio between 30 and 300 mg/g, is debated because microalbuminuria often reverts to normoalbuminuria, and the associated risk for morbidity and mortality is significantly less than for macroalbuminuria.5,10,–,12 For this reason, microalbuminuria is …

Familial Pulmonary Fibrosis in 2 Mexican Sisters With Hermansky-Pudlak Syndrome

Hermansky-Pudlak syndrome is an autosomal recessive disorder commonly found in individuals of Puerto Rican ancestry. We present 2 cases of familial pulmonary fibrosis in 2 Mexican sisters with Hermansky-Pudlak syndrome. Pulmonary fibrosis was biopsy-proven in 1 of the patients. This report shows that Hermansky-Pudlak syndrome may occur in individuals of Mexican ancestry.

Fibrosis pulmonar familiar en 2 hermanas mexicanas con síndrome de Hermansky-Pudlak

Hermansky-Pudlak syndrome is an autosomal recessive disorder commonly found in individuals of Puerto Rican ancestry. We present 2 cases of familial pulmonary fibrosis in 2 Mexican sisters with Hermansky-Pudlak syndrome. Pulmonary fibrosis was biopsy-proven in 1 of the patients. This report shows that Hermansky-Pudlak syndrome may occur in individuals of Mexican ancestry.

Effect of Season, City Size, and Recruitment Source on Latinos' Participation in a Statewide Smoking Cessation Program

AbstractLatino No Fumes:Protege tu Salud was a smoking cessation demonstration project carried out in 2003 to 2004 that recruited Spanish-speaking smokers in 8 Connecticut cities. Recruitment was through radio and TV announcements, by mail, and at clinics and hospitals. 252 current smokers — mainly of Puerto Rican ancestry — signed up for the program; 75% of them attended one or more of the program's 6 weekly, group counselling sessions. One third of the registrants attended at least 5 of the sessions offered. Attendance of one or more sessions was only 55% for summer or winter groups, but 98% for sessions held in the fall. For the summer or winter sessions (only), attendance at one or more sessions was significantly greater in small than in larger cities. At program end, 14% of the participants were verified nonsmokers (self-reported abstinence and carbon monoxide readings < 9 ppm). The reported quit rates were 18% and 13%, respectively, at 3 and 6 months. The amount of attendance was not significantly related to the reported end of program quit-rates. Nearly all nonsmokers at program end had attended groups conducted by just 3 (of the 7) trained counsellors, who were presumably more effective in helping these Latino smokers to quit.

A novel mutation in two families with limb-girdle muscular dystrophy type 2C

The authors present three unrelated North American patients with limb-girdle muscular dystrophy type 2C. Muscle biopsies suggested gamma-sarcoglycan deficiencies for all three patients. Patients 1 and 2 had a novel homozygous E263K missense mutation on exon 8 of gamma-sarcoglycan (SGCG). Patient 3 had del521T on her maternal allele and an exon 6 deletion on her paternal allele. Patients 1 and 2 are of Puerto Rican ancestry, suggesting the presence of a founder mutation in that population.

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. Prothrombin genes from probands and their parents were directly sequenced from PCR amplified exons using forward and reverse primers. Four novel prothrombin mutations were identified. The first, a G-->A substitution at DNA position 10150 predicting an Arg457-->Gln (R457Q) replacement, is common to all five families. In two of the families, the proband children are homozygous for R457Q. In the other three families, the probands are compound heterozygotes for R457Q and one of the other three mutations, which include another point mutation (gamma16Q), a deletion and a splice junction mutation. The two point mutations have been designated Puerto Rico I and Puerto Rico II. The crystal structure of alpha-thrombin predicts that the R457Q mutation removes a salt bridge that links the A- and B-chains of thrombin. The primary effect of this defect appears to be destabilization of the circulating prothrombin, creating a moderate hypoprothrombinemia. However, prothrombin antigen/activity ratios indicate a dysprothrombinemia as well, most likely due to the inability of R457Q prothrombin to activate fully to thrombin.

Depression and smoking initiation among US Latinos

We assessed the relationship between depression and smoking initiation among people of Mexican, Puerto Rican and Cuban ancestry residing in specific geographic areas of the United States. Survey data were examined to calculate incidence of smoking initiation and prevalences and odds ratios for ever smoking by presence of depressed mood, a history of major depression or both conditions. Depressed mood, a history of major depression or both conditions were associated with smoking initiation risks during childhood, adolescence and young adulthood. These findings suggest that the relationship between depressive states and smoking initiation is established early in life. More definitive studies are needed to confirm these findings.

Association between history of childhood sexual abuse and adult HIV-risk sexual behavior in puerto rican men who have sex with men

This study explored whether homosexually active men who were sexually abused in childhood were more likely to engage in HIV-risk sexual behavior than men who were not sexually abused. Participants were 182 adult men of Puerto Rican ancestry living in New York City who had had sex with other men or with men and women. Quantitative and qualitative methods of exploration were used. Three groups were determined: (a) Abuse group (AB), formed by men who before age 13, had sex with a partner at least 4 years their senior and who felt hurt by the experience and/or were unwilling to participate in it; (b) Willing/not hurt group (W), consisting of men who had an older sexual partner before age 13 but did not feel hurt by the experience and were willing to participate; and (c) No-older-partner group (NOP). The results showed that men in the AB group were significantly more likely than men in the NOP group to engage in receptive anal sex and to do so without protection. Men in the W group were ranked between the other two groups in terms of their unsafe behavior. Age and education were cofactors both for receptive anal sex and for unprotected receptive anal sex. It is concluded that given the need to improve HIV prevention among Puerto Rican men who have sex with men, sexual abuse in childhood may constitute a marker to identify men at increased risk.

Studies of malformation syndromes of man XXXIX: a craniosynostosis-craniofacial dysostosis syndrome with mental retardation and other malformations: "craniofacial dyssynostosis".

We report clinical findings in 2 sisters and 5 sporadic cases with a "new" type of craniosynostosis/craniofacial dysostosis and shortness of stature. Premature closure of lambdoid sutures and posterior part of sagittal suture causes a posteriorly narrow, dolichocephalic skull with small, flat or bulging occiput and protuberance of the forehead; disturbance of the growth of basal skull structures leads to craniofacial dysostosis and (secondary) anomalies of the face. In one patient the coronal suture was also involved. One of the patients had a congenital heart defect. Four untreated patients had mental retardation; 3 had craniosynostectomy with more or less normal psychomotor development afterwards. Some patients had hydrocephalus and 1 had a brain malformation (agenesis of the corpus callosum with presumed interventricular lipoma). The observation of sisters with the same condition suggests autosomal recessive inheritance. This etiologic hypothesis is supported by the fact that 4 of 7 patients are of Spanish, Mexican, or Puerto Rican ancestry; this population probably has a rather high gene frequency and the trait should be relatively common in areas occupied by this population and their descendents. The condition has been designated craniofacial dyssynostosis.

Emendation to "Bitemporal Aplasia Cutis Congenita"

To the Editor.— We have recently-and quite serendipitously-found an article that describes several patients with features remarkably similar to those of the child described by us in our paper entitled Bitemporal Aplasia Cutis Congenita which appeared in theArchives(110:615-618, 1974). The article that had appeared in the pediatric literature (Pediatrics32:540, 1963) was overlooked in our extensive search through the literature because of its inaccurate use of the phrase congenital ectodermal dysplasia in the title instead of the correct term aplasia cutis congenita. To the dermatologist, of course, congenital ectodermal dysplasia immediately calls to mind two very distinct syndromes and certainly does not encompass the well known entity of aplasia cutis congenita. Our missing of this obviously important article emphasizes the great need for using correct and exact terminology when writing and naming a paper. The article describes five children of Puerto Rican ancestry who had the following features:

A Variant of Hemoglobin A2Found in a Negro Family

AbstractTHREE possible variants of Hb-A2 ( α2δ2 ) with abnormal δ polypeptide chains have been discovered, namely, Hb-A2’ or Hb-B2 in the Negro race,1,2,4,6,11 Hb-Köln in one family of German descent13 and Hb-Flatbush in a family of Puerto Rican ancestry.14 In this communication, we report the results of studies of an abnormal minor hemoglobin component, which was observed in four members of a Negro family. The abnormality showed close resemblance to Hb-Flatbush. If further studies prove it to be identical, this report then describes the second family with this hemoglobin abnormality.

CONGENITAL ECTODERMAL DYSPLASIA OF THE FACE

Five children are described who have a previously undescribed collection of defects. The children are all of Puerto Rican ancestry. The features of their defects are: (1) an aged, leonine appearance; (2) absent eyelashes from either lid, or multiple rows of lashes on the upper lids with absence of those of the lower lids; (3) eyebrows which slant sharply upward and laterally; (4) scarlike defects on each temple erroneously attributed at first, to obstetrical forceps injury; (5) skin which is puckered around the eyes, as in an elderly person; (6) a scarlike median ridge of the chin; and (7) a nose and chin which seem rubbery when palpated. The temporal defects and abnormalities of the eyelashes are thought to be due to the multiple effects of a single gene. We suggest that this combination of cutaneous lesions limited to the face is probably the expression of an autosomal reccessive inheritance.