Association of Down's syndrome and testicular cancer

PURPOSE: We present additional clinical evidence for the suspected association of Down's syndrome and testicular germ cell tumors. MATERIALS AND METHODS: Four cases of Down's syndrome and testicular cancer are reported. The literature was reviewed for previous cases and analysis regarding common features. RESULTS: The 4 patients were 29 to 35 years old and had clinical stage I seminoma of the testis. Two patients received prophylactic abdominal radiotherapy, 1 is being followed and 1 received adjuvant carboplatin treatment. There was no relapse at followup of 1 to 8 years. One patient also had contralateral cryptorchidism. A total of 16 cases with the association of Down's syndrome and testicular germ cell cancer was documented previously. CONCLUSIONS: Evidence for the suspected association of Down's syndrome and testicular cancer is now accumulating. Etiologically it is suspected that, along with genetically determined malformations in many other organs in trisomy 21, the gonads also undergo maldevelopment, thus creating the conditions for step 1 of germ cell tumor oncogenesis in utero. Physicians caring for patients with Down's syndrome should be aware of the possible association with testicular neoplasms.     

Cardiology: prolapsed mitral valve syndrome

A patient with the prolapsed mitral valve syndrome may have no symptoms referable to the heart or, at the other extreme, may have disabling chest pain, severe arrhythmias, and electrocardiographic abnormalities. The syndrome is characterized by a midsystolic click and a late systolic murmur. The mechanism responsible for the valve deformity appears to be related to myxomatous degeneration. Associated ECG abnormalities strongly suggest myocardial disease. The diagnoses is established by echocardiography or cineangiocardiography.     

Hypodontia and nail dysplasia syndrome. Report of a case

The role of radiography and bone scintigraphy in the diagnostic management of suspected scaphoid fracture is controversial. Two strategies were compared for patients with initial negative radiographs: repeated radiography versus selective bone scintigraphy. Using the known positive predictive value of scintigraphy, the sensitivity and specificity of both diagnostic strategies were evaluated in a series of 78 consecutive patients. The kappa value for initial radiographs was 0.76 but decreased to 0.5 for follow-up radiographs. Similarly, sensitivity decreased from 64% to 30% in follow-up radiographs. Specificity of the bone scan was 98%. The best diagnostic strategy in the management of clinically suspected scaphoid fractures consists of initial radiography followed by bone scintigraphy in patients with negative radiographs.     

Surgical therapy in a case of congenital mitral valve insufficiency]

Using sheep erythrocytes (SRBC) as the antigen, two subpopulations of spleen antigen-binding lymphocytes could be distinguished by a marked difference in the susceptibility of their receptors to trypsin. In unimmunized animals, 30% of the antigen-binding cells were trypsin-resistant, whereas at 5 days after immunization, 80-90% were trypsin-resistant, indicating an increase of about 50-fold in trypsin-resistant antigen-binding cells per spleen. In contrast, trypsin-sensitive cells per spleen were only 4-fold higher on day 5 than before immunization. The rise in % trypsin sensitivity preceded the increase in rosettes per spleen, implying that immunization produced a preferential increase in trypsin-resistant antigen binding cells partly by converting sensitive cells to resistant cells. After the 5th day, the trypsin sensitivity of antigen-binding cells slowly returned toward the unimmunized level, but a booster injection of SRBC restored trypsin resistance. Trypsin resistance was not lost in the presence of sodium azide or protein synthesis inhibitors. But a slightly increased trypsin susceptibility was conferred by 2-deoxyglucose, implying that glycolysis or the glycosylation of protein may be involved in maintaining trypsin resistance.     

Aortic homograft and mitral valve repair in a patient with Werner's syndrome

We report the case of a 66-year-old man suffering from Werner's syndrome (adult progeria); he presented with several cardiac disorders, including coronary artery disease, aortic stenosis, and mitral regurgitation, mainly due to calcific deposits in the mitral annulus and the aortic cusps. Treatment consisted of mitral repair, homograft replacement of the aortic valve, and coronary artery bypass grafting. Avoidance of prosthetic material because of chronic infectious skin ulcers constituted the main goal of the operation.     

The mitral valve prolapse syndrome in children and adolescents

The authors studied the prevalence of mitral valve prolapse (MVP) in the group of 656 children and adolescents (329 males and 327 females), who were a representative sample (obtained with the Monte Carlo method of statistical trials) of all newborns in the city of Maribor, Republic of Slovenia, in the period of 18 years (1976-1992). The results were considered positive in children and adolescents who in addition to possible history (chest pain, palpitations, dizziness, loss of consciousness, headaches, perspiration), probable auscultatory finding (mezzosystolic click and late systolic murmur), and suspected phonocardiographic and ECG findings, also had a positive M-mode echocardiographic finding. The criteria for MVP on M-mode echocardiography were taken from the literature: descending of mitral cusp, either anterior or posterior, of at least 3 mm below the line connecting points C and D. Children and adolescents were divided into six age groups (infants, toddlers, preschool children, early school age, children in puberty, adolescents). Assuming MVP as a cause of cardiac arrhythmias, beside standard ECG we also performed holter ECG monitoring in 61 children and adolescents (29 with MVP, 32 without MVP). The results were tested with standard statistical tools (chi 2-test, Student t-test, 2 x 2 Fisher chi 2-test). MVP was found in 71 patients (10.8%, 32 males and 39 females). As regards age and sex we found lower prevalence of MVP in male children (9.7%) compared to female children (11.9%). The highest prevalence was found in early school age, more so in females (14.2 vs 13.7). The differences were not statistically significant (p > 0.05). In both sexes most frequent was endosystolic prolapse (males 59.3%, females 51.3%). Most commonly both cusps are involved in the prolapse (males 78.1%, females 66.7%). Most frequently measured descending of the cusps was 3-4.5 mm (males 56.2%, females 48.7%). Negative auscultatory finding (silent MVP) was detected in 47.8% of the patients with MVP. Most patients with diagnosed MVP had no symptoms (71.8%). The prevalence of asymptomatic MVP declines with age in both sexes. The prevalence of arrhythmias, both in standard ECG and holter ECG, is higher in patients with MVP (6.8:0%--NS and 44.6%:9.3%--p < 0.05). The influence of constitutional changes (dolichostenomelia, asthenic constitution, genua valga) on the appearance of MVP is reflected in statistically significant difference in the Rohr' index in the group of patients with MVP in relation to the healthy group (p < 0.05). The higher prevalence of headache and dizziness in the group with MVP is statistically significant (p < 0.05).     

A potential mechanism for mitral valve prolapse syndrome

The authors examined the prevalence of Alzheimer's disease and apolipoprotein E allele frequencies in the Old Order Amish. A lower frequency of dementia in the Amish does not appear to be due to a reduced E4 frequency.     

Bentall operation, total aortic replacement and mitral valve replacement for a young adult with Marfan syndrome: a case of three-staged operation

BACKGROUND: Early postpartum discharge of babies was gradually introduced in Sweden in the 1980s on ideological grounds, based on the premise that maternity wards were unnatural settings for mothers and babies and hampered breastfeeding. From about 1990, early discharge was used as a means to reduce costs. The purpose of this study was to examine if mandated early discharge at Central Hospital of Karlstad, Sweden, influenced subsequent breastfeeding. METHOD: Breastfeeding outcomes of infants up to six months of age of all births in 1993 (n = 3231) were compared with the outcome of newborns in 1990 (n = 1462). RESULTS: Breastfeeding at six months postpartum continued to increase during the early 1990s for both healthy and sick infants, irrespective of whether or not they were discharged early. In infants born in 1995 the breastfeeding rate at six months was 64 percent for healthy newborns and 53 percent for sick newborns. CONCLUSION: Factors other than the time of discharge, most likely a positive change of attitude in society and vigorous introduction of the Baby Friendly Hospital Initiative, seem to have been more important for successful breastfeeding.     

Correlation between Down's syndrome and malformations of pediatric surgical interest

PURPOSE: This is a collaborative study carried out by Pediatric Surgeons of the "G.D'Annunzio" University and the Regional Association of Down Children of Abruzzo (Italy). METHODS: Data were collected of malformations combined with Down Syndrome (DS) during a 10-year period in a population of defined age to look for a possible improvement of the patients' life conditions. Reportedly, 50% of these patients may reach an age of about 60 years. RESULTS: One hundred twenty-seven DS subjects from this region were evaluated, 54% of whom had associated malformations (13% cardiac, 41% extracardiac, and 13% both). Seventeen patients of 53 underwent surgery for extracardiac malformations, with gastrointestinal malformations prevailing. The largest number of DS babies were born from mothers under 30 years of age; this is attributed to the largest birth rate and the least prevention at this age. Mothers older than 38 years gave birth to DS babies with the lowest rate of associated malformations. CONCLUSION: The role of the pediatric surgeon in multidisciplinary assistance for DS patients is stressed.     

Apical cross-sectional echocardiography. Standard for the diagnosis of idiopathic mitral valve prolapse syndrome

In light of the nonspecificity of left ventricular angiography and physical examination, and the limitations of M-mode echocardiography to define the presence of mitral valve prolapse syndrome, we evaluated left ventricular longitudinal and apical four-chamber tomographic views of cross sectional echocardiography in 19 subjects with normal left ventricular cineangiography and in 5 patients with congestive cardiomyopathy. None had auscultatory findings suggestive of mitral valve prolapse syndrome. In all 24 control subjects, the apical view demonstrated the coaptation point and the leaflets of the mitral valve to lie inside the left ventricular cavity. A retrospective analysis of 900 consecutive cross sectional echocardiographic studies revealed 105 subjects with no evidence of structural heart disease other than the presence of the mitral valve leaflets in the left atrium in systole defining the existence of idiopathic mitral valve prolapse syndrome. Both mitral leaflets were prolapsed in 90 percent of the involved populations, and the apical tomographic cross sectional echocardiographic view was superior to the left ventricular longitudinal view for the detection of anterior leaflet prolapse. These data suggest that the apical cross sectional view may be the single best technique to define the presence of idiopathic mitral valve prolapse syndrome.     

Seip-Lawrence syndrome associated with polyostotic fibrous dysplasia. Report of a case

In biological systems, weak-affinity interactions (association constant, Ka, of less than approximately 10(4) M-1) between biomolecules are common and essential to the integrity of such units. However, studies of weak biological interactions are difficult due to the scarcity of analytical methods available for the bioscientist. In this communication, we report on the use of biosensors based on surface plasmon resonance to detect and characterize weak affinity antibody-antigen interactions. Monoclonal antibodies towards carbohydrate antigens were immobilized on sensor surfaces and were used to detect weak binding of the carbohydrate tetraglucose of dissociation constant, Kd, in the millimolar range. Sensorgrams were received in the form of square pulses where the kinetic rate constants were difficult to assess due to the rapid association and dissociation of the antigen to/from the immobilized antibody.     

The development of eye contact between mothers and normal versus Down's syndrome infants.

Eye contact between mothers and 7 normal as well as 5 Down's syndrome infants was recorded over Ss' 1st 6 mo of life, both during naturalistic face-to-face interactions (mobile condition) and when mothers were silent and kept their faces still (immobile condition). Mental Development Index scores from the Bayley Scales of Infant Development were 66–202 for Down's syndrome Ss and 99–220 for normals. In the mobile condition normals consistently showed double peak patterns in the development of eye contact at 7 and 14 wks of age. Analysis of temporal and discriminative aspects of the eye contact revealed qualitative differences between the 2 peaks. Down's syndrome Ss showed delays in the onset of eye contact and in the establishment of high levels of this behavior. Once these levels were attained during the 3rd mo, high overall levels as well as long episodes of eye contact were maintained for much longer than in the normals. Although this appeared to be beneficial for the formation of the mother–infant bond, it also indicated increasing delays in the development of new functional uses of eye contact. Impairments in both maturational and psychological processes were thus implied. (39 ref) (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Association between mitral annulus calcification and carotid atherosclerotic disease

BACKGROUND AND PURPOSE: It has been established that mitral annulus calcification (MAC) is an independent predictor of stroke, though a causative relationship was not proved, and that carotid artery atherosclerotic disease is also associated with stroke. The aim of this study was to determine whether there is an association between the presence of MAC and carotid artery atherosclerotic disease. METHODS: Of the 805 patients in whom the diagnosis of MAC was made by transthoracic echocardiography between 1995 and 1997, 133 patients (60 men and 73 women; mean age, 74.3+/-8 years; range, 47 to 89 years) underwent carotid artery duplex ultrasound for various indications; the study group comprised these patients. They were compared with 129 age- and sex-matched patients without MAC (57 men and 72 women; mean age, 73.6+/-7 years; range, 61 to 96 years) who underwent carotid artery duplex ultrasound during the same period for the same indications. MAC was defined as a dense, localized, highly reflective area at the base of the posterior mitral leaflet. MAC was considered severe when the thickness of the localized, highly reflective area was > or =5 mm on 2-dimensional echocardiography in the 4-chamber view. Carotid artery stenosis was graded as follows: 0%, 20%, 40%, 60%, 80%, and 100%. RESULTS: Compared with the control group, the MAC group showed a significantly higher prevalence of carotid stenosis of > or =40% (45% versus 29%, P=0.006), which was associated with > or =2-vessel disease (23% versus 10%, P=0.006) and bilateral carotid artery atherosclerotic disease (21% versus 10%, P=0.011). Severe MAC was found in 48 patients. More significant differences were found for the severe MAC subgroup (for carotid stenosis of > or =40%) in rates of carotid artery atherosclerotic disease (58% versus 29%, P=0.001), and > or =2-vessel disease (31% versus 10%, P=0.001), in addition to bilateral carotid artery stenosis (27% versus 10%, P=0.004) and even bilateral proximal internal carotid artery stenosis (21% versus 8%, P=0.015). Furthermore, significant carotid artery atherosclerotic disease (stenosis of > or =60%) was significantly more common in the severe MAC subgroup than in the controls (42% versus 26%, P<0.05) and was associated with higher rates of > or =2-vessel disease (19% versus 7%, P=0.02) and bilateral carotid artery stenosis (17% versus 7%, P=0.05). On multivariate analysis, MAC and age but not traditional risk factors were the only independent predictors of carotid atherosclerotic disease (P=0.007 and P=0.04, respectively). CONCLUSIONS: There is a significant association between the presence of MAC and carotid artery atherosclerotic disease. MAC may be an important marker for atherosclerotic disease of the carotid arteries. This association may explain the high prevalence of stroke in patients with MAC.