Asunto(s)

RESUMEN

Endocrine dysfunction and parameters of metabolic syndrome were assessed in 91 patients aged 4.3-32.5 years who underwent allogeneic or autologous BMT in childhood. Final short stature, found in five of the 35 patients who attained final height, was associated with the underlying disease (specifically, Fanconi anemia) (P=0.0013), previous cranial irradiation (P=0.0007), type of conditioning irradiation (P<0.05) and allogeneic BMT (P=0.05). Growth hormone deficiency (n=10) was associated with previous cranial irradiation (P<0.005) and conditioning total body irradiation (P<0.001). Twelve patients had primary hypothyroidism, one had hyperthyroidism and one papillary thyroid carcinoma. Hypothyroidism was associated with neck/mediastinal (P<0.005) and conditioning irradiation (P<0.05). Primary gonadal failure was found in 24 of the mature patients (62.5% females). Hypogonadism was associated with the underlying disease (especially hematological malignancies) (P<0.05), pretransplant treatment (P<0.05), irradiation conditioning (P<0.001), older age (P<0.005) and advanced pubertal stage at BMT (P<0.05). Obesity (body mass index >2 s.d.) was found in 4.4% and type II diabetes and impaired glucose tolerance in 3.3% each. Dyslipidemia was found in 27.9% of the 43 patients tested. These findings emphasize the need for long-term follow-up of endocrine and metabolic parameters in young patients after BMT in order to offer proper treatment and improve quality of life.

Asunto(s)

RESUMEN

In an attempt to elucidate the causes of occlusion of radial arteries used for coronary artery bypass grafts and to improve the results of these procedures, we studied the biometry and histology of the coronary, radial and left internal thoracic arteries. These arteries were harvested from 20 cadavers (13 males, 7 females). The specimens were calibrated to the various bypass graft sites using coronary calibrators, and were then submitted to histological examination to determine the structure and innervation of the vessel wall. No correlation was observed between the internal calibers of these various arteries, with the exception of the anterior interventricular and right coronary arteries. Intimal changes and the presence of atheromatous plaque were observed in coronary and radial arteries, but never in the internal thoracic artery. Like the coronary arteries and their branches, the radial artery is a muscular artery. Aging of muscular arteries results in thickening of the intima, which becomes fibrotic due to migration of myocytes from the media and duplication of the internal elastic lamina. The media becomes fibrous, hypertrophic or atrophic. The walls of the radial and coronary arteries contain several adventitial nerves (sympathetic and parasympathetic nerve fibers), but these nerve fibers were not observed in the wall of the left internal thoracic artery. In contrast, the internal thoracic artery, like the aorta, is an elastic artery. Aging of elastic arteries is first observed between the ages of 20 and 29 years and is characterized by loss of one or several elastic laminae of the media and more marked intimal thickening, over a variable length. Even if a radial artery's caliber is similar to that of the coronary artery, histological evolution and graft patency depend on its muscular identity.

Asunto(s)

RESUMEN

A 33-year-old hypertensive man presented with epigastric pain radiating to the back. Transoesophageal echocardiography (TOE) revealed an intimal flap on the aortic arch and descending aorta. No intimal flap of the ascending aorta was detected on TOE or CT. The diagnosis was made on opening the ascending aorta: complete circumferential dissection of the ascending aorta flush with the coronary ostia, with no residual intimal flap, and intimo-intimal glove-finger intussusception of the internal channel into the descending thoracic aorta. Aortic intussusception is a very rare form of Type I dissection, and the absence of intimal tear in the ascending aorta can be misleading and delay the diagnosis.

Asunto(s)

RESUMEN

Spontaneous coronary artery dissection is a rare and generally fatal disease. It usually occurs in women during the post-partum period or women taking oral contraceptives. Treatment depends on the clinical presentation and the results of coronary angiography. Beating heart myocardial revascularization is particularly useful in this case, as it allows coronary artery bypass graft to be performed without manipulating the ascending aorta, thereby minimizing the risk of post-CPB aortic dissection, and without important modification of arterial pressure.

RESUMEN

The anatomical forms of aneurysms are sometimes complex. Three-dimensional modelisation may be valuable in understanding the configuration and spatial orientation on one hand and also help in therapeutic decision making on the other. Two types of modelisation are reported with details of their methods and their respective values.

Asunto(s)

RESUMEN

OBJECTIVE: This study prospectively evaluates parameters of growth, puberty, and attained adult height in children with sporadic or familial occurrence of neurofibromatosis type 1 (NF-1), followed up longitudinally, to define the most important factors affecting these parameters. PATIENTS AND METHODS: The study was made up of 89 patients (55 boys, 34 girls) with sporadic (n = 45) or familial NF-1 (13 affected fathers and 31 affected mothers). The average age at referral was 8.9 years (range 8.5-15 years), and the average follow-up period was 8.5 years (6-15 years). A total of 28 patients attained adult height at the time of the report. Anthropometric measurements and bone age determinations were performed at 6- to 12-month intervals. As indicated, central nervous system (CNS) imaging was performed on 60 patients. Serum levels of thyroid stimulating hormone, free T4, lutheinizing hormone, follicle stimulating hormone, testosterone or estradiol, cortisol, and prolactin were measured in all patients periodically, and the pituitary growth hormone reserve was assessed in 32 short patients. RESULTS: CNS pathology was found in 23 of the 89 patients. A total of 6 patients required neurosurgery, and 2 patients had cranial irradiation. Of these patients, 3 were receiving recombinant growth hormone and thyroxin replacement therapy and 5 patients with precocious puberty were treated with a gonadotropin-releasing hormone analog. All other patients had normal endocrine tests. Precocious puberty was recorded in 5 patients and was more common among the familial cases. The 5 patients with precocious puberty also had CNS pathology. Short stature (<10th percentile) was observed in 25.5% of the patients during the prepubertal period with a significant gradual reduction of their relative height for age (standard scores) during puberty. Short adult height was noted in 12 (43%) of 28 patients, and only 50% of the 28 patients attained an adult height that was appropriate for their respective target height. Short stature was more common among patients with familial NF-1, particularly if the father was affected, and among those patients with CNS pathology. Parental short stature was observed in 39% of the mothers and in 33% of the fathers (59% and 54% among the affected parents, respectively). Tall stature (>90th percentile) was observed in 4 of 89 patients (4.5%), who all had CNS tumors. A highly significant correlation was found among all adult height-predicting parameters (r =.79), and attained adult height was best correlated with the target height (r =.7; n = 28). CONCLUSIONS: Short adult height is an important characteristic of NF-1 and deserves to be emphasized in the evaluation and follow-up of these patients during childhood. Short adult height is strongly linked with familial background of NF-1, in particular if the affected parent is the father, and is affected adversely by the relatively poor pubertal growth. Despite normal pituitary gland and thyroid function tests in most children and adolescents with NF-1, increased incidence of precocious puberty was observed. As the clinical expression in the second generation is more pronounced, the underlying mechanism seems to be mediated by genetic factors that are yet undefined.

Asunto(s)

RESUMEN

Papillary fibroelastoma is a rare, benign, primary cardiac tumour. The authors report three cases presenting with transient or full cerebrovascular accidents. The tumours were diagnosed during investigation by echocardiography, especially transoesophageal echocardiography. In view of the severity of symptoms and the high risk of recurrence, the patients were rapidly referred for surgery. In two cases, the tumour was located on the aortic valve at several sites. In one case, the tumour was single and implanted on the mitral valve. Surgery was successful with the pathology reports confirming complete ablation. The patients have not had any recurrence to date. The multiple nature of these tumours raises the questions of local spread, secondary degeneration of valvular nodes? The problem of possible recurrences is discussed.

Asunto(s)

RESUMEN

With the introduction of long-term subcutaneous administration of deferoxamine (DFO), there has been a decline in the morbidity and mortality of transfusion-dependent beta-thalassemia patients. However, since the use of subcutaneous DFO is hindered by poor compliance, long-term i.v. DFO therapy has been attempted in order to improve compliance, prevent excessive iron accumulation and extend survival. Thirteen patients (aged 5.4-18.4 years) were started on i.v. home administration of DFO (100 mg/kg per day) via an exteriorized, tunneled right atrial catheter (Hickman type). After a median follow-up of 36 months, the mean ferritin levels had dropped significantly (5,117 +/- 1,737 to 1,816 +/- 1,062 micrograms/l. P = 0.0001). None of the patients developed new endocrine or cardiac diseases due to iron overload. Patients beginning therapy at an early age (< or = 11 years) showed a tendency for improved growth parameters at the end of the treatment period. Two patients developed moderately high frequency sensorineural hearing loss. One patient developed a right atrial thrombus. The line infection rate was low (1.7 episodes per 1,000 patients days). In view of the grave prognosis for iron overloaded patients and the fact that oral chelators are not yet readily available, we recommend this form of therapy for the young, noncompliant beta-thalassemia patient, despite the occasional complications observed.

Asunto(s)

RESUMEN

Newborn infants, particularly those born prematurely, are prone to develop life-threatening pyogenic infections. Different studies have demonstrated impairment of various aspects of the humoral immunity and the phagocytic activity of neutrophils in newborns. We conducted a comprehensive study evaluating the complement function (CH50 and AP50) and the level of the vast majority of the complement components (Clq, Clr, Cls, C2-C9, FB and properdin) in preterm and full-term newborn infants as compared to adults. Furthermore, we investigated the effect of autologous and heterologous serum on the bactericidal activity of neutrophils, by crossing newborn serum with adult cells and vice versa. Results showed that preterm and full-term newborns have an impaired complement activity as compared to adults (CH50 P < 0.05, AP50 < 0.01) and significantly reduced complement components except for C7, which was found to be normal in full-term infants and in most appropriate-for-gestational age preterm newborns at 34-36 weeks. A statistically significant correlation was found between gestational age and the level of most of the complement components. CH50 and AP50 also showed a positive trend which, however, was not statistically significant. No correlation was found between birthweight and complement activity or complement component levels. The neutrophil bactericidal activity of full-term newborns was about one-third that of adults (P < 0.001). Adult serum improved the bactericidal activity of newborn neutrophils by 93%, indicating a considerable neonatal humoral defect. Conversely, neonatal serum blunted the adult bactericidal activity by 86%. Our results support the fact that both humoral and phagocytic functions in newborn infants are impaired, which may possibly account for their increased tendency to develop severe pyogenic infections.

Asunto(s)

RESUMEN

The umbilical venous hematocrit at birth (Hct 1) and the peripheral venous hematocrit at 2 h of life (Hct 2) were determined in 78 healthy full-term and 14 healthy preterm newborn infants. Hct 1 was 51.6 +/- 4.1% in full-term infants and 50.8 +/- 4% in preterm infants. Hct 2 was 60.9 +/- 2 and 58.6 +/- 6.1% in full-term and preterm infants, respectively. Significant differences between Hct 1 and Hct 2 were found in both groups of infants (p less than 0.01). The blood viscosity increased significantly in both groups from birth to 2 h of life. Neonatal polycythemia (Hct higher than 70% at 2 h of life) was detected in only 3 full-term infants (3.8%). They received partial exchange transfusion. There was a positive linear correlation of Hct 1 with Hct 2 in full-term newborns (r = 0.71, p less than 0.001) and preterm infants (r = 0.57, p less than 0.02). No infants with Hct 1 equal to or below 50% had Hct 2 higher than 65%. None with Hct 1 between 51 and 54% had Hct 2 higher than 70%. Neither Hct 1 nor Hct 2 correlated with birth weight, gestational age, total blood solutes, or reticulocyte counts at birth in either group. An inverse linear correlation was found between blood pH at birth and Hct 2 in preterm newborn infants (r = 0.66, p less than 0.02).

Asunto(s)

Asunto(s)

RESUMEN

Endogenous digoxin-like immunoreactive factor(s) (DLIF) have been found in serum and urine of newborn infants, including those born prematurely. We assessed the effect of age on serum levels of DLIF in 73 samples obtained from 66 healthy full term newborn infants at birth and during the first two months of life. DLIF concentrations were highest at birth and fell progressively with age. In cord blood, DLIF levels were 0.73 +/- 0.35 ng/ml (mean +/- SD). DLIF concentrations were 0.45 +/- 0.11 ng/ml on day 1, 0.26 +/- 0.08 ng/ml on day 3, 0.19 +/- 0.07 ng/ml on day 5, 0.17 +/- 0.09 ng/ml on day 11, 0.11 +/- 0.02 ng/ml on days 15-30, and not detectable after 45 days of life. We also studied the relation between serum levels of DLIF and bilirubin in 23 jaundiced newborns between 3-5 days of life. We found a highly significant positive correlation between serum bilirubin concentrations and DLIF. These findings support the assumption that DLIF plays a role in impeding bilirubin excretion in the neonatal period, perhaps by inhibiting the activity of (Na-K)ATPase.

Asunto(s)