Cardiovascular features of homozygous familial hypercholesterolemia: analysis of 16 patients

Familial hypercholesterolemia (FH) is characterized by an autosomal codominant inheritance, an abnormality in low-density lipoprotein (LDL) receptor function, elevated plasma cholesterol levels and premature atherosclerosis. Sixteen patients with homozygous FH were studied to correlate the extent of their atherosclerotic disease with their lipid levels and receptor function. The age range at initial presentation was 3 to 38 years (mean 12), and at the last examination, 6 to 43 years (mean 20). The mean pretreatment total plasma cholesterol concentration for all patients was 729 +/- 58 mg/dl (+/- standard error of the mean), and the mean LDL cholesterol level was 672 +/- 58 mg/dl (normal 60 to 176). High-density lipoprotein cholesterol was 28 +/- 3 mg/dl (normal 30 to 74). In the 7 patients with FH who had symptoms of myocardial ischemia (Group I), the mean pretreatment LDL cholesterol value (817 +/- 62 mg/dl) was higher than that of the 9 asymptomatic patients (Group II) (560 +/- 74 mg/dl). In Group I, 5 of 7 patients had left or right coronary ostial narrowing and 3 had significant left ventricular outflow obstruction. Most coronary arterial narrowing occurred in the right coronary and left anterior descending arteries and the least amount in the left circumflex coronary artery. A femoral bruit was the physical finding that correlated best with the Group I population; brother:sister pairs revealed a milder clinical course for the female. Seven of the 16 patients have survived into their third decade without symptoms. Comparison of these persons with those in whom angina developed reveals a marked heterogeneity in their clinical course, which appears to be associated with receptor negative/defective status.     

Electrophysiologic abnormalities of children with ostium secundum atrial septal defect

Sinus node (SN) and atrioventricular node (AVN) function were evaluated in 49 patients with secundum type atrial septal defect (ASD). Automaticity and conduction system function were assessed by intracardiac recording of the AH and HV intervals at rest, corrected SN recovery time, sinoatrial conduction time, AVN refractory period and the ability of the AVN to conduct rapidly paced atrial beats to the ventricles. Electrophysiologic abnormalities were found in 41% of the 34 patients who were studied before surgery. However, no preoperative abnormalities were present in children younger than 2.5 years. If only children older than 2.5 years were analyzed, the incidence of conduction abnormalities was similar for the patients studied before operation (62%) and those studied after operation (71%). The size and ejection fractions of the right and left ventricles, the magnitude of shunt flow and the size of the ASD did not differ between the patients with and those without electrophysiologic abnormalities. AVN dysfunction was present in 40% of the patients who were studied after surgical repair. While this frequency was more than twice the preoperative incidence of AVN dysfunction, it was not statistically significant. The data suggest that patient age is the major factor that influences the presence of conduction system dysfunction in patients with ASD.     

Morphologic features of the normal and abnormal mitral valve

Anatomic and functional features of the normal and abnormal mitral valve are reviewed. Of 1,010 personally studied necropsy patients with severe (functional class III or IV, New York Heart Association) cardiac dysfunction from primary valvular heart disease, 434 (43%) had mitral stenosis (MS) with or without mitral regurgitation (MR): unassociated with aortic valve stenosis or regurgitation or with tricuspid valve stenosis in 189 (44%) patients, and associated with aortic stenosis in 152 (35%), with pure (no element of stenosis) aortic regurgitation in 65 (15%) patients, and with tricuspid valve stenosis with or without aortic valve stenosis in 28 (6%) patients. The origin of MS was rheumatic in all 434 patients. Of the 1,010 necropsy patients, 165 (16%) had pure MR (papillary muscle dysfunction excluded): unassociated with aortic valve stenosis or regurgitation or with tricuspid valve stenosis in 97 (59%) patients, and associated with pure aortic regurgitation in 45 (27%) and with aortic valve stenosis in 23 (14%) patients. When associated with dysfunction of the aortic valve, pure MR was usually rheumatic in origin, but when unassociated with aortic valve dysfunction it was usually nonrheumatic in origin. Review of operatively excised mitral valves in patients with pure MR unassociated with aortic valve dysfunction disclosed mitral valve prolapse (most likely an inherent congenital defect) as the most common cause of MR. Excluding the patients with MR from coronary heart disease (papillary muscle dysfunction), mitral prolapse was the cause of MR in 60 (88%) of the other 68 patients, and a rheumatic origin was responsible in only 3 of the 68 patients, all 68 of whom were greater than 30 years of age. Mitral anular calcification in persons aged greater than 65 years is usually associated with calcific deposits in the aortic valve cusps and in the coronary arteries. Because calcium in each of these 3 sites is common in older individuals residing in the Western World, it is most reasonable to view mitral anular calcification in older individuals as a manifestation of atherosclerosis. Mitral anular calcium appears to be extremely uncommon in persons with total serum cholesterol levels less than 150 mg/dl. Mitral anular calcium may produce mild MR and, if the deposits are heavy enough, MS.     

The floating heart or the heart too fat to sink: Analysis of 55 necropsy patients

Certain clinical and morphologic findings are described in 55 patients whose hearts at necropsy contained so much fat that they floated in water. The patients were 47 to 89 years old (mean 67). Symptomatic coronary heart disease was present in 28 (51%) and valvular heart disease (mitral stenosis) in 3 (5%). The heart at necropsy was enlarged (>350 g for women and >400 g for men) in 45 patients (82%). The mean heart weight for the 31 women was 470 g and for the 24 men, 515 g. In addition to the severe increase in fat in the atrioventricular sulci and over both ventricles, the amount of fat in the atrial septum was increased in all patients. In 14 patients (25%), the thickness of the atrial septum cephaled to the fossa ovale was ≥2 cm. Excessive fat in this location is called “lipomatous hypertrophy of the atrial septum.” Of the 16 patients (29%) with fatal acute myocardial infarction, 7 (44%) had rupture of either the left ventricular free wall or ventricular septum. The high frequency of cardiac rupture in these patients supports the contention that rupture during acute myocardial infarction is more common in the fatty than in the non-fatty heart.     

Studio clinico osservazionale sull’uso di ponti Maryland in composito rinforzato con fibre (FRC): successi e fallimenti in cinque anni

Objectives

This observational study aims to clinically verify the rate of success of Fixed Partial Dentures (FPDs) made of resin and glass fiber composite (Fiber-Reinforced Composite, FRC).

Materials and methods

Our study sample involved 50 subjects (30 males and 20 females) aged between 14 and 45 who have been rehabilitated with FRC Maryland bridges (for a total of 67 FPD-FRC). The observational study was performed for five years following the general rules coded by the modified US Public Health Service (USPHS) system.

Results

After five years of follow-up, seven out of 67 prosthesis (five belonging to the adult group and two belonging to the adolescent group) were found unsuitable. Four of these FPD-FRCs were considered unsuitable because of break of the framework, the remaining three FPDFRCs were regarded unsuitable because of leakage of the marginal seal.

Conclusions

This clinical investigation showed that the FPDs made with FRC technique can be considered a viable alternative to the traditional removable and fixed prosthesis.     

Well-woman Care Barriers and Facilitators of Low-income Women Obtaining Induced Abortion after the Affordable Care Act

Objectives

This study uses the abortion visit as an opportunity to identify women lacking well-woman care (WWC) and explores factors influencing their ability to obtain WWC after implementation of the Affordable Care Act.

Racial Differences in Discharge Location After a Traumatic Brain Injury Among Older Adults

ObjectiveTo determine if there were racial differences in discharge location among older adults treated for traumatic brain injury (TBI) at a level 1 trauma center.DesignRetrospective cohort study.SettingR Adams Cowley Shock Trauma Center.ParticipantsBlack and white adults aged ≥65 years treated for TBI between 1998 and 2012 and discharged to home without services or inpatient rehabilitation (N=2902).Main Outcome MeasuresWe assessed the association between race and discharge location via logistic regression. Covariates included age, sex, Abbreviated Injury Scale-Head score, insurance type, Glasgow Coma Scale score, and comorbidities.ResultsThere were 2487 (86%) whites and 415 blacks (14%) in the sample. A total of 1513 (52%) were discharged to inpatient rehabilitation and 1389 (48%) were discharged home without services. In adjusted logistic regression, blacks were more likely to be discharged to inpatient rehabilitation than to home without services compared to whites (odds ratio 1.34, 95% confidence interval, 1.06-1.70).ConclusionsIn this group of Medicare-eligible older adults, blacks were more likely to be discharged to inpatient rehabilitation compared to whites.     

Syndrome of anosmia with hypogonadotropic hypogonadism (kallmann syndrome): Clinical and laboratory studies in 23 cases

We have studied 23 patients (14 men, nine women) in 18 kindreds with anosmia and hypogonadotropic hypogonadism. Seven kindreds had more than one affected member, and included five eugonadal persons with anosmia and two eusomic women with hypogonadotropic hypogonadism. Other clinical abnormalities observed included: obesity (in nine), cryptorchidism (six), osteopenia (six), mild neurosensory hearing loss (five), gynecomastia (five), diabetes mellitus (four), cleft lip or palate or both (three), high-arched palate (two), short fourth metacarpal (two), and clinodactyly, camptodactyly, shortened frenulum of the tongue, multiple facial anomalies, right-sided aortic arch, malrotation of the gut, renal diverticulum, and mild red-green color blindness (one each).Normal secondary sex characteristics developed in all 20 patients treated on a long-term basis with chorionic gonadotropin or gonadal steroids. Responses to a single injection of gonadotropin-releasing hormone were heterogeneous. Five men had no luteinizing hormone response, five had a depressed response, and one an exaggerated response; two had no follicle-stimulating hormone response, five responses were depressed, three were normal, and one was ex-aggerated. None of seven women achieved a normal luteinizing hormone response to gonadotropin-releasing hormone; two had depressed follicle-stimulating hormone response, four responses were normal, and one was exaggerated. None of 11 patients tested responded to clomiphene. Two men fathered children. Each of two other men who underwent biopsy of the testes before and after long-term chorionic gonadotropin therapy showed mildly increased spermatogenesis. Little or no maturation beyond primordial follicles was observed in two ovarian biopsy specimens. Fifteen of 17 patients had normal basal prolactin levels and 14 of 16 had normal thyrotropin-releasing hormone-induced prolactin increase, but nine of 15 tested had a decreased or absent response of prolactin to chlorpromazine. Circulating concentrations of thyroid hormones were normal, but four of 17 patients tested had depressed TSH (thyroid-stimulating hormone) responses to thyrotropin-releasing hormone, and one man had an exaggerated response. Three of 12 patients had a depressed cortisol response to insulin-induced hypoglycemia, and two of seven patients had slightly depressed deoxycortisol responses to metyrapone. Growth hormone and vasopressin release in all 14 and all 12 patients, respectively, studied were essentially normal.Patients with anosmia and hypogonadotropic hypogonadism may have hypothalamic defect(s) responsible for the hypogonadotropism and perhaps for certain additional deficiencies of anterior pituitary function found in some. The cause of less frequent phenotypic abnormalities has not been established. In certain pedigrees, the evidence suggests that the major manifestations of the syndrome are inherited as an autosomal recessive trait.