Diarrhea caused by Cryptosporidium as the initial manifestation of AIDS in an elderly man

Reproductive history of mothers of 115 Down's syndrome children was studied and compared with 200 control mothers who gave birth to normal children. The frequency of spontaneous abortions in mothers of Down's syndrome babies was found to be elevated significantly (p < 0.05). The data suggest that the maternal health and reproductive potential have a prominent aetiological significance in the occurrence of Down's syndrome.     

Pulmonary embolus presenting as initial manifestation of renal cell carcinoma

Pulmonary emboli from renal cell carcinoma may be more common than previously suspected. A case is reported of renal cell carcinoma presenting with a massive pulmonary embolus. Pulmonary embolectomy followed by radical nephrectomy with venocavotomy and tumor thrombectomy was successfully performed.     

Mutations of ret-proto-oncogene in thyroid medullary carcinoma

OBJECTIVE: To determine the importance of the molecular-genetic demonstration of germ-line mutation in the ret protooncogene for therapeutic measures in sporadic and hereditary medullary thyroid carcinoma (MTC). PATIENTS AND METHODS: Several molecular-genetic tests were performed on DNA of 35 families with hereditary and 81 patients with the sporadic form of MTC (isolation of genomic DNA; PCR amplification; DNA sequencing: demonstration of mutation in codon 918 with restriction enzyme FOK 1). RESULTS: A disease risk was demonstrated in 178 individuals among the 35 families, 159 of whom were investigated by molecular-genetic tests: 84 family members were found to be gene carriers. Germ-line mutation had already been suspected on clinical grounds in 76% of the carriers, 24% being discovered in a presymptomatic stage. Six children among the latter were treated prophylactically by thyroidectomy, histological evidence of C-cell hyperplasia being found in all of them, microcarcinomas in three of the older children. There were four patients among the non-carriers on whom thyroidectomy had been performed previously because of a false-positive pentagastrin-test; but germ-line mutation was now excluded. In one family, with familial MTC in two brothers, no mutation in ret-proto-oncogene has been demonstrated. The members of this family must now, as used to be routine, undergo a pentagastrin-test. Three of the 81 patients with "sporadic" MTC had a germ-line mutation, presumably a new one. CONCLUSION: Molecular-genetic tests have further improved the management of families with hereditary MTC and they thus take first place among essential diagnostic procedures. The diagnosis of sporadic MTC can be confirmed by excluding germ-line mutation in the ret-proto-oncogene.     

Histopathological and immunohistochemical studies on medullary thyroid carcinoma

In order to study the multidifferentiation of medullary carcinoma of the thyroid gland (MCT), 24 cases of MCT were examined for the presence of immunoreactive calcitonin (CT), thyroglobulin (Tg), chromogranin A (CgA), somatostatin (SS), serotonin (5-HT), S-100 protein (S-100), neuron-specific enolase (NSE), vasoactive intestinal polypeptide (VIP), adrenocorticotrophin (ACTH) and neurofilament protein (NF) by using immunohistochemical ABC methods. Results showed that CT-immunoreactive cells were present in all tumors. Tg was present in three tumors. 23 cases contained CgA-immunoreactive cells. 14 tumors contained 5-HT-immunoreactive cells, 10 cases were immunoreactive to NSE and SS. 4 tumors contained VIP-immunoreactive cells and only one cases was positive for S-100. The demonstration of immunoreactivity for multiple antigens in 24 cases suggests that the origin of medullary thyroid carcinoma may originate from neuroectoderm cells potentially capable of producing numerous hormone substances. In addition, as the neoplastic cells in 12% of the tumors containing hormone substances as well as thyroglobulin, it is suggested that follicular epithelial differentiation and mixed medullary thyroid carcinoma may be more common than previously suspected. Recent studies indicate that mixed carcinoma of the thyroid may be derived from common stem cells in posterior branchia capable of differentiating into both follicular and parafollicular tumor cells.     

TFF1 gene expression in human medullary thyroid carcinoma

This epidemiological study investigated the reasons why children in Northern Ireland who need orthodontic treatment do not receive treatment even when it is provided free by the state. A total of 1584 15- and 16-year-olds were examined in 23 high schools with the Index of Orthodontic Treatment Need. The characteristics of the adolescents who had received orthodontic treatment were compared with those who had a definite need for treatment and yet did not receive treatment or advice. One in 10 of the adolescents examined had an unmet need for orthodontic treatment. Logistic regression analysis was used to assess the influence of 11 variables including socioeconomic status, religion, and standard of dental health on the uptake of orthodontic care. This analysis revealed that the only significant predictors of whether an adolescent received orthodontic treatment was the dental attendance pattern of the adolescent, the adolescent's dental health, and the dental attendance pattern of the adolescent's mother. Those adolescents who had good dental health, who regularly attended a dentist, and whose mother regularly attended a dentist were more likely to receive orthodontic treatment.     

Differential display in primary and metastatic medullary thyroid carcinoma

Platelet-activating factor (PAF) is a mediator produced in human airways during acute and chronic inflammatory lung diseases. The levels of PAF are regulated by acetylhydrolase (AH), the enzyme that converts PAF to lyso-PAF. To determine whether AH was present in human bronchoalveolar lavage (BAL) fluid, BAL was obtained from normal donors (n = 18) and from adult patients with mild bronchial asthma (n = 15) or with lung fibrosis (n = 15). AH activity was consistently found in the cell-free BAL fluid. BAL-AH is an enzyme different from secretory phospholipase A2 and from plasma AH and erythrocyte AH. Furthermore, BAL-AH is inhibited as much as 95% by exposure to an oxygen radical-generating system (xanthine/xanthine oxidase). BAL-AH is significantly correlated with the number of BAL macrophages (rs = 0.63; p < 0.02). In addition, BAL macrophages release AH both spontaneously and after stimulation with tumor necrosis factor-alpha (TNF-alpha) (100 ng/ml). BAL-AH activity in patients with bronchial asthma (1.32 +/- 0.18 pmol of PAF converted to lyso-PAF/min) is significantly lower than that in normal donors (2.25 +/- 0.26 pmol/min; p < 0.001). In contrast, BAL-AH activity in patients with lung fibrosis (6.13 +/- 0.81 pmol/min) is higher than that found in normal donors (p < 0.01). The variations in BAL-AH activity in patients with bronchial asthma or lung fibrosis are due to a reduction and to an increase, respectively, in the number of active molecules rather than to changes in enzyme affinity. These data demonstrate that human BAL fluid contains an extracellular AH activity that inactivates PAF released in the airways. BAL-AH is secreted by alveolar macrophages and is highly sensitive to oxygen radical-induced damage. The secretion and inactivation of BAL-AH may influence the levels of this enzyme in BAL fluid during acute and chronic inflammatory lung diseases and, ultimately, regulate the proinflammatory activities of PAF in these disorders.     

The prognostic importance of calcitonin screening in familial medullary thyroid carcinoma

A prospective study of 20 patients with traumatic amputations of the fingers and a thumb was carried out during a six week period at Mpilo Central Hospital, Bulawayo. Most of the adult injuries (17 patients) resulted from industrial accidents (76.5 pc) while two out the three children sustained their injury from domestic accidents. Inadequate safety precaution, ignorance and human error contributed significantly to the injuries. Safety education and preventive measures both at home and in industry should be inoculated into the daily life of individuals.     

Numb chin syndrome as the initial manifestation of HIV infection

Numb chin syndrome, which consists of focal sensory loss and paresthesias of the chin, occurs with malignant diseases. We report a patient with numb chin syndrome, caused by Burkitt's lymphoma, occurring as the initial manifestation of HIV infection.     

A case of AIDS complicated with isosporiosis as initial manifestation

A case of congenital agenesis of the right lobe of the liver detected in a patient with gastric cancer is reported. The diagnosis of this rare anatomical variant was established by a combination of computed tomography, abdominal angiography, and operative findings. The importance of accurately recognizing this condition is stressed, and the clinical presentation, radiographic appearance, and differential diagnosis are also discussed.     

Haemosuccus pancreaticus as a rare initial manifestation of chronic pancreatitis

Twenty-seven painful knee replacements were evaluated arthroscopically. The diagnostic and therapeutic value of these arthroscopic procedures was studied retrospectively. In 5 of the 27 cases, the arthroscopy revealed no diagnosis for the pain. Some form of arthroscopic treatment was performed in 20 cases; in 6 of these 20 cases, however, the treatment did not reduce the pain. Based on these findings, we conclude that the indications for arthroscopic evaluation and treatment of painful knee prostheses are limited.     

Elevated CEA in breast cancer patients with overlooked medullary thyroid carcinoma

After mastectomy and radiation for breast cancer, two patients were found to have persistent elevated CEA in their serum. This finding was erroneously attributed to occult metastases for the first patient and to local recurrence for the second. Overlooked medullary thyroid carcinoma (MTC) was the causal disease in both patients. A review of the literature stresses the frequency of CEA elevation in serum of MTC patients. A thorough search for any possible cause of elevated levels of CEA is advocated, particularly by thyroid sonogram with a needle aspiration biopsy when a nodule is discovered and by calcitonin assay in the serum.     

The diagnosis of medullary carcinoma of the thyroid (author's transl)

The pentagastrin stimulation test was given to ten brothers and sisters of two patients who had previously undergone total thyroidectomy for medullary carcinoma of the thyroid. 5 microng pentagastrin/kg body-weight were injected as an intravenous bolus and calcitonin levels determined before and after. The test was positive in four members of the family and the presence of a medullary carcinoma was subsequently confirmed in them histologically.     

Multiple endocrine neoplasia-type medullary thyroid carcinoma in three generations of a family

The familial accumulation of a multiple endocrine neoplasia (MEN) type 2a medullary thyroid carcinoma, is described based on the retrospective analysis of a family history. The proband was characterized by medullary carcinoma (MC) combined with phaeochromocytoma, her child had been shown to suffer from MC. In the third generation of the family C-cell hyperplasia and bilateral adrenal hyperplasia occurred. It is shown that in order to arrive at a correct decision as regards the therapy to be used, modern laboratory tests (serum calcitonin, CEA-analysis) and diagnostic imaging methods (ultrasound, computer tomography, magnetic resonance imaging, positron emission tomography, metaiodobenzylguanidine scintigraphy) should be used. It is emphasized that the available therapeutic means (surgery, radiotherapy, nuclear medicine) have to be carefully selected and, if necessary, combined. In medullary thyroid carcinoma associated tumours in other endocrine organs should be expected to occur. Family screening using blood chemical and genetic tests are recommended in asymptomatic cases, since their surgical treatment can in this way lead to complete recovery.     

Wegener's granulomatosis with dural involvement as the initial clinical manifestation

We treated a patient with an atypical presentation of Wegener's granulomatosis (WG) with dural involvement as the initial clinical manifestation. A 37-year-old man had a dural lesion without lower respiratory tract or renal manifestations in the initial clinical course. His only initial symptom was headache, and at disease onset computed tomography (CT) and magnetic resonance imaging (MRI) of the head revealed bilateral abnormal subdural masses. The diagnosis of WG was made based on the results of needle biopsy of the nasal polyps and the finding of positive circulating antineutrophil cytoplasmic antibodies (c-ANCA). He achieved remission on daily prednisone and cyclophosphamide with the later addition of sulfamethoxazole-trimethoprim.     

Presence of atrial natriuretic peptide in rat thyroid medullary carcinoma cell line

In 1923, Masson described a neoplastic process consisting of papillary hyperplasia of the endothelial cells, with a consequent obliteration of the vascular lumen, followed later by degenerative changes. Masson coined the term vegetant intravascular haemangioendothelioma, however, these days it is more commonly known as papillary endothelial hyperplasia (PEH), or by the pseudonym, Masson's tumour. Although relatively rare, there are numerous accounts of PEH in the literature, describing its predilection for the head and neck region. Our case report describes the finding of a PEH within the paranasal sinuses, a site not previously mentioned even in the largest of series found on literature search. We will then discuss the relevant histological features of the lesion, and its natural history.     

Advances and controversies in the diagnosis and management of medullary thyroid carcinoma

In tasks requiring sustained attention, human alertness varies on a minute time scale. This can have serious consequences in occupations ranging from air traffic control to monitoring of nuclear power plants. Changes in the electroencephalographic (EEG) power spectrum accompany these fluctuations in the level of alertness, as assessed by measuring simultaneous changes in EEG and performance on an auditory monitoring task. By combining power spectrum estimation, principal component analysis and artificial neural networks, we show that continuous, accurate, noninvasive, and near real-time estimation of an operator's global level of alertness is feasible using EEG measures recorded from as few as two central scalp sites. This demonstration could lead to a practical system for noninvasive monitoring of the cognitive state of human operators in attention-critical settings.