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Skin or subcutaneous infection with aspergillus is uncommon. It has been described in disseminated aspergillosis, as localized infection in the immunocompromised host and as a complication of trauma and burns. Described in this paper is a diabetic patient who developed a fatal Aspergillus infection following debridement of a necrotizing fasciitis. "Fruiting bodies," rarely found in vivo, were seen on pathologic examination of subcutaneous tissue. Her course was similar to that of burn patients with invasive fungal disease, where mortality is high and radical debridement is the only chance for cure.  相似文献   

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DNA methyltransferase 1 (EC 2.1.1.37), encoded by DNMT1 gene, is one of key enzymes in maintaining DNA methylation patterns of the human genome. It plays a crucial role in embryonic development, imprinting and genome stability, cell differentiation. The dysfunction of this group of enzymes can lead to a variety of human genetic disorders. Until now, mutations in DNMT1 have been found to be associated with two distinct phenotypes. Mutations in exon 20 of this gene leads to hereditary sensory and autonomic neuropathy type IE, and mutations in exon 21 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy. Here we report a novel DNMT1 mutation in a sporadic case of a Chinese patient with cerebellar ataxia, multiple motor and sensory neuropathy, hearing loss and psychiatric manifestations. Furthermore, we elucidated its pathogenic effect through molecular genetics studies and revealed that this defective DNMT1 function is responsible for the phenotypes in this individual. Our findings expand the spectrum of DNMT1-related disorders and provide a good example of precision medicine through the combination of exome sequencing and clinical testing.  相似文献   

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BACKGROUND: Double pathology is uncommon. The diagnostic effort must be directed toward uncovering a disorder that can explain all the findings in a given patient. However, exceptions occur, notably in the sphere of infectious disorders. This is particularly true in the context of multiple infections in immunocompromised patients. CASE: Fine needle aspiration was performed on 2 lymph nodes in a 22-year-old male. Extramedullary hematopoiesis was seen in 1, while the other showed acellular necrosis with acid-fast bacilli. The hematologic workup revealed chronic myelogenous leukemia. CONCLUSION: Extramedullary hematopoiesis can be a cytologic clue to hematologic disorders. A search for an additional infectious disease may be in order.  相似文献   

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ABSTRACT: INTRODUCTION: Synthol is a site enhancement oil used by bodybuilders to boost the cosmetic appearance ofmuscles. Here, we describe the case of a patient with severe side effects following repeatedintramuscular injections of synthol in his right biceps muscle. CASE PRESENTATION: A 29-year-old Middle Eastern male bodybuilder, following intramuscular injections ofsynthol five years ago, presented with painful pressure in his right upper arm. On presentationto our clinic, his muscle appeared disfigured. Magnetic resonance imaging revealed scatteredcystic fatty lesions in the muscle. The affected part was surgically removed andhistopathology showed inflammatory changes with fibrosis and a so-called Swiss cheesepattern. CONCLUSION: Synthol injections that are used for the short-term enhancement of muscle appearance bybodybuilders bear the danger of long-term painful muscle fibrosis and disfigurement.  相似文献   

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Coronary artery dissection following blunt chest trauma is rare. We report the case of a 43-year-old woman who was admitted with a subacute inferior myocardial infarction due to dissection of the right coronary artery. Ten days earlier, she had sustained a minimal chest trauma. The literature is reviewed and management is discussed.  相似文献   

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Craniopharyngioma is a rare benign tumour originating from Rathke's pouch. This paper reports a tumour case studied with a set of markers defining protein–carbohydrate recognition. Expression of endogenous lectins and their reactive glycoligands is under differentiation-dependent control in many cell types. These parameters can be related to the degree of cell differentiation in tumours. Therefore, the expression patterns of endogenous lectins, namely galectins-1, -3, and -7, in the craniopharyngioma case were determined. Galectins-1 and -3 were also used to reveal glycoconjugates in cells and extracellular matrices, an approach that has heretofore relied largely on plant lectins. The staining pattern of craniopharyngioma is compared with that of two other types of ectodermally derived tumours, namely basal and squamous cell carcinomas. Clusters of polygonal and flattened cells with morphological characteristics of differentiated cells in the craniopharyngioma and the majority of poorly differentiated cells in squamous cell carcinomas were reactive with galectin-3. No binding of this probe was observed in cells of basal cell carcinomas and the majority of craniopharyngioma cells. In view of the lack of accessible binding in the basal layer of normal squamous epithelia where proliferative cells (including stem cells) are located, galectin-3 binding could be used to distinguish basal from suprabasal cells of squamous epithelial cells.  相似文献   

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Background

Intracranial hemorrhage is a rare but potentially severe complication of spinal surgery. Most reported post-operative ICH cases consist of cerebellar hemorrhage. There are fewer reported cases of supratentorial ICH following spinal surgery.

Case presentation

A 56-year-old woman underwent spinal surgery complicated by bilateral supratentorial intraparenchymal basal ganglia hemorrhage with both intraventricular extension and subarachnoid hemorrhage in both cerebral hemispheres.

Conclusion

The occurrence of neurological deterioration post-operatively following spinal surgery should alert physicians to the possibility of intracranial hemorrhage in order to facilitate rapid and optimal management. To our knowledge, this is the first case reporting basal ganglia hemorrhage following spinal surgery. Moreover, consideration should be given to the possibility of this complication prior to recommendation of elective spinal surgery.
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A case of multiple chromosome aberrations in a patient with CML (chronic myeloid leukemia) in the accelerated phase was described. Cytogenetic and molecular genetic studies revealed the presence of a t(9; 22)(q34; q11) translocation and some additional abnormalities such as t(1; 2)(p36; p21), del(6)(q21), +del(8)(q22), del(18)(q21), and +der(22), part of which is not typical for this kind of pathology. The correlation between the obtained data and the data presented in different publications is considered. A probable connection of the detected changes with previously received treatment and a possible effect of these changes on CML progression are discussed.  相似文献   

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皮肤垢着病(cutaneous dirt-adherent disease,CDAD)是一种临床少见皮肤病,其中单独发生在乳房部位的,临床称之为"乳房垢着病",更是罕见。目前,国内外文献报道约15例,但均为个案报道,对该病的临床特点及诊疗方案缺乏系统性分析。  相似文献   

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A case is presented of pregnancy and delivery of triplets following intracytoplasmic sperm injection (ICSI) therapy. Although the outcome was satisfactory, with the birth of normal children free from any malformation, most of the obstetric and particularly the neonatal complications that can be associated with this therapy are illustrated in this case. In addition, from point of view of medical costs, concerns are raised about the current policy of multiple embryo transfer which is directly responsible for the high rate of multiple gestations observed in the IVF/ICSI programme. The authors consequently recommend a policy of transferring not more than two embryos per treatment cycle.  相似文献   

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Opiate dependence and withdrawal involve neuroadaptive responses in the central nervous system. A host of studies have previously implicated the A6 noradrenergic neurons of the pontine nucleus locus coeruleus (LC) as an important mediator of somatic signs observed upon withdrawal from opiates. Recent studies, however, are showing that noradrenergic neurons of the LC may not be solely involved in mediating somatic signs of withdrawal. The A2 noradrenergic neurons of the nucleus of the solitary tract (nucleus tractus solitarius [NTS]) in the caudal brainstem may be another possible site. Neurons in the nucleus paragigantocellularis lateralis (PGi), located in the rostral ventral medulla, which are known to send collateral projections to both the LC and the NTS, may co-modulate both noradrenergic nuclei in a parallel fashion, which may represent an anatomical substrate underlying the behavioral expression of opiate withdrawal. The PGi provides glutamatergic and opioid innervation to LC neurons. Hyperactivity of LC during opiate withdrawal arises, in part, from increased glutamate transmission in this pathway. The authors have recently shown that the excitatory transmitter, glutamate, co-exists with the endogenous opioid peptide, enkephalin, in a subset of axon terminals in the LC. Decreases in endogenous opioids in afferents to LC and NTS, following chronic opiate administration, may be equally important in modulating noradrenergic neurons following chronic opiate exposure, by removing a neurochemical system that would inhibit noradrenergic neurons. A persistent decrease in opioid peptide release from afferents during withdrawal would result in glutamate acting on postsynaptic targets, in an unopposed fashion. A parallel effect in opioid projections from PGi to the NTS would potentially support similar actions in this noradrenergic nucleus. The authors' recent data show that opioid-containing neurons in the PGi project to the NTS, and that enkephalin levels are decreased in opioid afferents to the NTS. This review summarizes data that the authors have collected regarding opioid expression changes in brainstem circuits (PGi-LC and PGi-NTS), following chronic morphine treatment, which may represent a model for understanding of adaptations in endogenous opioid circuits during drug dependence and withdrawal.  相似文献   

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Thyroid hemiagenesis (TH) is a rare inborn anomaly, resulting from failure of one thyroid lobe development. It is usually detected incidentally during investigation of concomitant thyroid disorders. The reported patient first presented hypothyroidism at the age of 49, when Hashimoto's thyroiditis (HT) and left thyroid lobe agenesis was diagnosed. L-thyroxine (LT4) replacement therapy restored hormonal balance. Two years later, the patient developed features of Graves' hyperthyroidism. The antithyroid pharmacotherapy by thiamazole was used. However, due to severe side-effects it was discontinued, and radioiodine treatment was applied. Four months after 131I administration, symptoms of hypothyroidism appeared, so thyroid hormone substitution was reintroduced. The patient, whose observation period has now reached 5 years, under LT4 replacement therapy, remains both clinically and biochemically euthyroid. The described case displays a very rare coincidence of hypothyroidism due to HT converted into Graves' hyperthyroidism, accompanying TH. Each of these three entities, may influence the thyroid function in a different way, hence, systematic follow-up and individual therapeutic management is required.  相似文献   

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Background

Base deficit (BD) is commonly used in the operating room (OR) as an endpoint of resuscitation. BD is used as a surrogate marker for the accumulation of lactic acid(Lac). However, the BD can be affected by large amounts of saline.

Methods

We conducted a survey of anesthesiologists regarding the use of BD. We also studied the reliability of BD to determine the presence of hyperlactatemia (HL). Patients undergoing general anesthesia were eligible for enrollment if they were receiving an arterial line as part of their routine care. If an arterial blood gas was drawn by the operative team as part of the routine care, the remainder of the unused blood was also used to measure Lac.

Results

Survey: 73 staff anesthesiologists were surveyed. Over 70% of respondents used BD as an endpoint of resuscitation. Base Deficit Study: 35 patients were enrolled resulting in 88 arterial blood gases with corresponding Lac. Mean age was 61.4 ± 14.3 years, 43% were male. Mean pH was 7.39 ± 0.05, the mean bicarbonate was 23.0 ± 2.3 meq/L, the mean BD 1.34 ± 2.3, and the mean Lac was 1.58 ± 0.71 mmol/L. Mean ASA risk score was 3.16 ± 0.71. ROC area under the curve for base deficit to detect HL was 0.58.

Conclusion

BD can often mislead the clinician as to the actual Lac. Lac can now be measured in the OR in real time. Therefore, if clinicians in the operative setting want to know the Lac, it should be measured directly.  相似文献   

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