Fatal Familial Insomnia is a hereditary prion disease characterized by a mutation at codon 178 of the prion protein gene cosegregating with the methionine polymorphism at codon 129 of the mutated allele. It is characterized by disturbances of the wake-sleep cycle, dysautonomia and somatomotor manifestations (myoclonus, ataxia, dysarthria, spasticity). PET studies disclose severe thalamic and additionally cortical hypometabolism. Neuropathology shows marked neuronal loss and gliosis in the thalamus, especially the medio-dorsal and anterior-ventral nuclei, olivary hypertrophy and some spongiosis of the cerebral cortex. Detailed analysis of 14 cases from 5 unrelated families showed that patients ran either a short (9.1+ 1.1 months) or a prolonged (30.8 + 21.3 months) clinical course according to whether they were homozygote met/met or heterozygote met/val at codon 129. Moreover, homozygotes had more prominent oneiric episodes, insomnia and dysautonomia at onset, whereas heterozygotes showed ataxia and dysarthria at onset, earlier sphincter loss and epileptic Grand Mai seizures; they also displayed more extensive cortical involvement on PET and at postmortem examination. Our data suggest that the phenotype expression of Fatal Familial Insomnia is related, at least partly, to the polymorphism at codon 129 of the prion protein-gene. 相似文献
The extracellular dextrans produced from sucrose by Streptococcus mutans strains BHT and GS-5 did not prevent the synthesis or release of active bacteriocins by these two strains. In addition, several streptococci that were genetically sensitive to these bacteriocins, and that could synthesize a variety of extracellular dextrans and levans from sucrose, remained phenotypically sensitive when grown in the presence of sucrose. Bacteriocin activity was not altered by treatment with high-molecular-weight dextran or by human saliva. The bacteriocins produced by, and active against, S. mutans thus appear to be capable of acting in vivo and may play a role in regulating the bacterial ecology of the oral cavity. 相似文献
Lung carcinoids occur sporadically and rarely in association with multiple
endocrine neoplasia type 1 (MEN1). There are no well defined genetic
abnormalities known to occur in these tumors. We studied 11 sporadic lung
carcinoids for loss of heterozygosity (LOH) at the locus of the MEN1 gene
on chromosome 11q13, and for mutations of the MEN1 gene using dideoxy
fingerprinting. Additionally, a lung carcinoid from a MEN1 patient was
studied. In four of 11 (36%) sporadic tumors, both copies of the MEN1 gene
were inactivated. All four tumors showed the presence of a MEN1 gene
mutation and loss of the other allele. Observed mutations included a 1 bp
insertion, a 1 bp deletion, a 13 bp deletion and a single nucleotide
substitution affecting a donor splice site. Each mutation predicts
truncation or potentially complete loss of menin. The remaining seven
tumors showed neither the presence of a MEN1 gene mutation nor 11q13 LOH.
The tumor from the MEN1 patient showed LOH at chromosome 11q13 and a
complex germline MEN1 gene mutation. The data implicate the MEN1 gene in
the pathogenesis of sporadic lung carcinoids, representing the first
defined genetic alteration in these tumors.
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In some parts of the United Kingdom (UK), family doctors (or "general practitioners" as they are called in the UK) are routinely called upon by the emergency medical services (EMS) system to attend road accidents. The doctors are volunteers and travel to the scene of the accident in their own cars. Members of one such general practitioner accident service operating in Mid-Anglia complete an accident report form after attending each incident. In 1983, the Mid-Anglia General Practitioner Accident Service (MAGPAS) received 1,715 calls for medical assistance, and in 95% of these a doctor was sent immediately. Of these calls, 57% were passed to the doctor within one minute of the receipt of the call in the MAGPAS control room, and 78% were relayed within two minutes. This rapid call-out, combined with the close proximity of the local doctor to the accident site, resulted in the doctors arriving ahead of the ambulance in 42% of the calls. A total of 54 patients with airway obstruction were treated by the doctors prior to the arrival of the ambulance. Ninety-nine patients required immediate intravenous fluid replacement in the pre-hospital phase of their medical care. This report suggests that general practitioners in rural areas can play a vital role in the early management of trauma patients, especially in the absence of ambulance personnel trained in advanced life support skills. 相似文献
Metastatic carcinoma of the thyroid is uncommon in surgical pathology and may masquerade as primary thyroid cancer. We studied 6 cases of biopsied and/or surgically resected metastatic carcinoma of the thyroid and their corresponding primary carcinoma, with emphasis on the differential diagnosis. There were 4 men and 2 women patients aged 44 to 77. The primary carcinoma was a breast infiltrating duct carcinoma (3 cases), a colorectal adenocarcinoma (2 cases) and a bronchial oat-cell carcinoma (1 case). The interval between primary carcinoma and secondary thyroid carcinoma was 2 to 9 years in 4 cases; 2 other cases showed simultaneous occurrence. Five patients died with widespread metastases 1 to 14 months following the diagnosis of secondary carcinoma of the thyroid; 1 patient was alive after 24 months. The histological differentiation of secondary from primary thyroid cancer may be difficult in the following situations: clear-cell, Hürthle-cell and signet ring cell changes; positivity of mucins stains; production of melanin; epidermoid differentiation; very rare miscellaneous tumours ("columnar cell carcinoma" and primary thymoma of the thyroid). Immunoperoxidase methods and mucin histochemistry may help. 相似文献
The purpose of this study was to characterize presenting imaging findings in women younger than 40 diagnosed with invasive breast cancer in the context of pathology and clinical course. Retrospective chart and imaging reviews were performed in patients under 40 diagnosed with breast cancer between July 1, 2004, and December 31, 2013. Patient demographic, imaging, pathology, and clinical data were collected. Overall and recurrence-free survival were estimated using the Kaplan-Meier method. Univariate Cox proportional hazards models were performed to identify factors associated with recurrence-free survival. Our study cohort consisted of 110 patients with invasive mammary carcinoma. One hundred one (91.8%) presented with a palpable mass. The mean size of all lesions on imaging was 3.5 cm ± 2.9 cm. Malignant calcifications were present in 54 (49.1%) cases. Imaging demonstrated multifocal or multicentric disease in 45 (40.9%) cases. Seventy four (67.3%) cancers were high grade. Luminal genomic subtypes were the most common (n = 61, 55.5%). At presentation, 4 (3.6%) patients had bilateral malignancy and 8 (7.3%) patients had distant metastatic disease. Ninety seven (88.2%) underwent neoadjuvant chemotherapy and 67 (60.9%) underwent radiation therapy. Seventy five (68.2%) of the patients underwent mastectomy. The restricted mean time to recurrence was 9.01 years (standard error 3.162 months). ER positivity was associated with compromised recurrence-free survival. The overall survival rate was 0.962 at 10 years. Young patients diagnosed with breast cancer typically present with advanced breast imaging findings and undergo aggressive treatment. Recurrence often occurs >5 years from diagnosis, and ER positive subtypes are at increased risk for recurrence. 相似文献
Twenty of 26 (77%) consecutive patients undergoing ileogastrostomy, performed by the same surgeon (IGMC) between February
1989 and May 1992, responded to a mailed quality of life survey. Average present weight was reported as 50.9 kg less than
a mean preoperative weight of 139.7 kg. Mean time of follow-up was 24.75 months. When comparing perceptions before and after
surgery, several quality of life improvements were noted in the areas of vocation, relationships, emotional well-being and
physical well-being. Post-surgery, jobs were rated more satisfying, eating habits improved, self-image and self-confidence
increased and body disparagement declined. Satisfaction with sexual relations increased, as did frequency. In general, relations
with partners, co-workers and friends seemed to improve. Exercise also increased significantly. In contrast, foul flatus,
bloating, and bowel movements regularly hampered activities or caused embarassment when in public. Despite these physical
side-effects, we observed that a large majority of persons undergoing ileogastrostomy noted significant improvements in quality
of life. 相似文献
Objectives. To confirm the observation that has been occasionally reported in the literature that perinatal mortality rate is lower in ethnic Chinese than in ethnic whites, and to assess the reasons for this lower perinatal mortality rate.
Methods. Secondary‐analysis based on published data.
Results. This exercise demonstrates that the perinatal mortality rate was lower in ethnic Chinese than in ethnic whites. The birth weight distribution in ethnic Chinese was more favourable with reduced births at two extremes of the distribution, and the exposure to risk factors for perinatal death by their mothers was also lower.
Conclusion: Perinatal mortality rate is lower in ethnic Chinese than in ethnic whites, and the lower perinatal mortality rate in ethnic Chinese is probably caused by their favourable birth weight distribution and lower exposure to risk factors of perinatal death by their mothers. 相似文献
A retrospective study of all ileogastrostomy procedures (n=26) performed in 1993 by one surgeon (IGMC) was carried out to investigate the hypothesis that Helicobacter pylori may be implicated in certain severe cases of postoperation nausea and diarrhea. Ten of 26 persons (38.5%) displayed nausea
and notable diarrhea (greater than or equal to ten bowel movements per day), seven of which warranted upper GI investigation.
One hundred per cent (seven of seven) of these persons were found to possess H. pylori upon C-14 breath test. In four of six cases eradication therapy (1 g amoxicillin b.i.d./20 mg omeprazole b.i.d. for 2 weeks)
corresponded with a resolution of severe nausea and diarrhea (one additional case involved omeprazole use only), suggesting
that H. pylori should be considered as a possible cause of these symptoms post-ileogastrostomy. Additionally, in four of seven cases persons
were re-tested (C-14 breath analysis) at least 1 month post-therapy and in this group three persons were found to be free
of the organism. All three cases of notable diarrhea and nausea resolved with treatment, providing the strongest evidence
for a possible association between infection and these symptoms. 相似文献