Report of a case of Muir-Torre syndrome.
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Biomedical subjects
Publications and source records attributed to C Moura.
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Until recently, dietary sources of nucleotides were thought not to be essential for good nutrition. Certain states with higher metabolic demands may require larger amounts that cannot be provided by endogenous production. The objective of the present study was to determine the action of nucleotides on the recovery from lactose-induced diarrhea in weaned rats. Thirty-six weanling Fisher rats were divided into two groups. Group 1 received a standard diet and group 2 received a diet containing lactose in place of starch. On the 10th day, six animals per group were sacrificed for histopathological evaluation. The remaining animals were divided into two other subgroups, each with 6 animals, receiving a control diet, a control diet with nucleotides (0.05% adenosine monophosphate, 0.05% guanosine monophosphate, 0.05% cytidine monophosphate, 0.05% uridine monophosphate and 0.05% inosine monophosphate), a diet with lactose, and a diet with lactose and nucleotides. On the 32nd day of the experiment all animals were sacrificed. Animals with diarrhea weighed less than animals without diarrhea. The introduction of nucleotides did not lead to weight gain. Mean diet consumption was lower in the group that continued to ingest lactose, with the group receiving lactose plus nucleotides showing a lower mean consumption. Animals receiving lactose had inflammatory reaction and deposits of periodic acid-Schiff-positive material in intestinal, hepatic and splenic tissues. The introduction of nucleotides led to an improvement of the intestinal inflammatory reaction. In lactose-induced diarrhea, when the stimulus is maintained--lactose overload--the nucleotides have a limited action on the weight gain and on recovery of intestinal morphology, although they have a protective effect on hepatic injury and improve the inflammatory response.
Ebstein's anomaly is a rare congenital heart disease abnormality in which the tricuspid valve leaflets do not attach normally to the tricuspid valve annulus. The effective tricuspid valve orifice is displaced apically into the right ventricle (RV), near the junction of the inlet and the trabecular parts of the RV. The authors present a retrospective study of the patients with Ebstein's anomaly admitted to a neonatal intensive care unit, in the period between January 1993 and March 2000. There were ten patients, representing 0.24% of total neonates and 1.99% of total congenital heart disease admitted to the institution in the same period. Fifty per cent were male and only one case had prenatal diagnosis. Holosystolic murmur (100%) from tricuspid regurgitation and cyanosis (80%) were the most frequent clinical findings. Chest X-ray was abnormal in 90% of the neonates, with a "balloon-shaped" enlarged heart. The main electrocardiographic findings were right atrial enlargement (70%) and arrhythmias (40%). Apical displacement of the septal leaflet of the tricuspid valve, to a maximum of 20 mm, and leaflets tethering to underlying RV myocardium were found in all patients. Tricuspid valve regurgitation was found in 90% (severe form in four cases). An atrial intracardiac shunt, mostly right-to-left, was also found in 50%. Digoxin was used (40%) to restore sinus rhythm. Fifty per cent of the neonates received intravenous prostaglandins. Two patients required a surgical procedure. Two patients died in the neonatal period. During the follow-up period (range 0.3-74.6 months), only one episode of supraventricular tachycardia was recorded. At present seven patients are clinically stable, three of them on medication.
UNLABELLED: Rhabdomyoma is the most common cardiac neoplasm in neonates. Spontaneous regression of such tumors is common, particularly with smaller lesions, followed by resolution of symptoms. Because most of the tumoral masses regress spontaneously, treatment should primarily be symptomatic, while surgical removal is required only in life-threatening situations. Tuberous sclerosis is found in half of the patients with rhabdomyomas. AIM: The aim of our work was to analyze the cases of rhabdomyoma with neonatal presentation in our hospital. METHODS: A retrospective review was performed of the hospital records (cardiovascular examination, radiologic and echocardiographic findings, association with tuberous sclerosis, treatment and follow-up) of all neonates admitted, during the last 12 years, with the diagnosis of rhabdomyoma. RESULTS: Six patients were found. All diagnoses were established during the first month of life. One third of our population had associated tuberous sclerosis. In three cases the tumors were multiple and the preferential location was the left ventricle. In only one case was surgical removal indicated because of the presence of life-threatening symptoms but the infant's parents refused consent for the procedure. All the children had regression of the tumoral masses. CONCLUSIONS: The natural history of rhabdomyomas is one of spontaneous regression with surgical excision being recommended only in the presence of life-threatening symptoms.
OBJECTIVE: To analyse the type and frequency of cranial CT and NMR imaging anomalies in children of short stature. PATIENTS AND INTERVENTIONS: We studied 57 children of short stature with a mean age (+/-SD) of 10.1 +/- 3.8 years, 34 boys and 23 girls, all of them with auxometric criteria of GH deficiency. After studying the pituitary function and determination of karyotype in the girls, the children were classified in to five groups:-Isolated GHD (IGHD) (n = 32), multiple pituitary hormone deficiency (MPHD) (n = 6), neurosecretory dysfunction (NSD) (n = 8), Turner syndrome (n = 7) and idiopathic short stature (ISS) (n = 4). The imaging methods used were cranial CT or NMR. RESULTS: Of the 57 children studied the CT/NMR was abnormal in 37(64.9%) children. We found anomalies in 65.6% of IGHD patients, 62.5% of NSD patients, 100% of MPHD patients and 57.1% and 25% in the Turner s. patients and ISS patients respectively. The most frequent anomaly was hypoplastic pituitary found in 50% of IGHD patients, 37.5% of NSD patients and 33.3% of MPHD patients. None of the cases of Turner s. or ISS had hypoplastic pituitary. An empty sella was the second most frequent anomaly found in 7 patients (IGHD-3, MPHD-3, DNS-1). Of the 25 children in which NMR was performed, 8 had hypoplastic pituitary and stalk and 2 had interruption of the pituitary stalk and ectopic neurohypophysis. CONCLUSION: These results strengthen the necessity for CT/NMR imaging in children of short stature which, besides allowing identification of tumors, also permits the diagnosis of idiopathic GHD because of its frequent association with cranial imaging anomalies, mainly hypoplastic pituitary.
Pityriasis rotunda is an uncommon cutaneous disorder consisting of asymptomatic, strikingly circular, scaly lesions on the trunk and extremities, with the histologic appearance of ichthyosis vulgaris. Previous cases have been described in Japanese, South African, and West Indian persons, usually in association with an underlying serious systemic disease. A case of pityriasis rotunda in a 32-year-old black man in whom no diagnosable disorder could be demonstrated is presented.
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Cardiotocography (CTG) lacks reliability and reproducibility and these problems are believed to be overcome by computer analysis. In this article we describe a system developed for routine clinical automated CTG analysis based on a low cost personal computer. Presently the system has processed 70 ten minute tracings. Fetal heart rate baseline, acceleration--deceleration detection, and long term variability estimation were performed in a satisfactory way.
A combination of trimethoprim (TMP) 250 mg and sulfametopyrazine (SMP) 200 mg (dose ratio 5:4) in capsules was administered to ten patients undergoing hysterectomy for uterine leiomyoma. Each patient received a total of 3 of these Kelfiprim capsules: 2 capsules in a single administration 36 hours before surgery and 1 capsule 24 hours later. TMP and SMP concentrations were analyzed in plasma and also in the ovary, Fallopian tube and uterus, removed during surgery. The results indicated that in the reproductive organs of the female genital tract TMP reaches the same concentrations as in plasma. In contrast SMP is 3 to 3.5 times less concentrated in these tissues compared with plasma. At the TMP/SMP ratios obtained in these various organs synergism of the two compounds is reported to be particularly prominent for most bacterial strains. These findings indicate that this TMP-SMP combination may be useful in the treatment of female reproductive tract infections.
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From 1980 to 2005, eight patients, four male and four female, age range between 33 to 86 years (average 55.2) with the diagnosis of primary aneurysm of the carotid bifurcation, underwent surgical management. Patients with postendarterectomy pseudo-aneurysms (also rotulated as "secondary") were excluded from the study, due to different pathogenic, clinical and therapeutic features. Four aneurysms were degenerative by nature, occurring in the older patients of the series. Some other etiologies include arterial fibrodysplasia, brucellosis, Behçet's disease and penetrating wound of the neck. All patients underwent the surgical resection of the aneurysm, followed by reestablishment of the carotid continuity in 6 cases; two patient had a definite ligation of the internal and external carotid artery, respectively. There was no operative mortality nor significant morbidity. From 1 to 25 years after the operation, three patients died for different reasons, two were lost for follow up and the remaining three are found alive and well. The main features of clinical presentation, etiology, diagnosis and surgical management of this entity are presented and discussed and compared with similar experiences reported in the international literature.