Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0243026 (sepsis)
 52,417 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The 6-year follow-up of a patient affected by Wolfram's syndrome, a rare disease characterized by diabetes insipidus (DI), diabetes mellitus (DM), optic atrophy (OA), neurosensory deafness (D), atony of the urinary tract and other abnormalities (DIDMOAD or Wolfram's syndrome), is described. Our patient has diabetes insipidus, diabetes mellitus, abnormal audiograms, without subjective evidence of hearing loss, and dilatation of the urinary tract. Diagnosis was suspected at the age of 8 years. Diabetes mellitus was the first manifestation and treatment with insulin was necessary. Desmopressin therapy decreased dramatically the daily urinary output. In view of the significant morbidity and mortality from renal failure associated with recurrent urinary infections, we have drawn special attention to the urological manifestations of the syndrome. During the follow-up, the patients underwent some investigations, such as renal ultrasound and echotomography and cystourethroscopy. Outstanding results of these studies are severe bilateral hydronephrosis with dilatated ureters and loss of renal tissue. The particular finding is the presence of posterior urethral valves with obstructed bladder. The anatomical outlet obstruction are variable and may be disastrous. There may be failure to thrive, sepsis, anemia be disanal failure. In such instances corrective surgery could improve bladder and ureteral functions.
 ...
PMID:[Wolfram syndrome. Peculiar urologic aspects]. 779 16

The patient, a 28 year-old female, received treatment for secondary amenorrhea two months before her first admission to our hospital. She was later found to have central type diabetes insipidus and acute myelomonocytic leukemia. A diagnosis of panhypopituitarism was established but there was no laboratory or radiological evidence of neuroleukemia. Complete remission was obtained after one course of induction chemotherapy. She received four more courses of chemotherapy including one course of high-dose cytosine arabinoside (Ara-C) and 14-day granulocytic colony-stimulating factor (G-CSF) for peripheral blood stem cell (PBSC) mobilization. Then she received autologous PBSC transplantation (Auto-PBSCT). Unfortunately leukemia relapsed 4 months after transplantation. The patient expired soon due to severe electrolyte imbalance and sepsis. Throughout the whole course, her pituitary function was only partially recovered after treatment and there was no laboratory or radiological evidence of CNS leukemia.
 ...
PMID:Acute myelomonocytic leukemia preceded by secondary amenorrhea and presenting with central diabetes insipidus: a case report. 943 51

The aim of this study was to retrospectively evaluate clinical characteristics at diagnosis and outcome of patients with Langerhans cell histiocytosis (LCH). From October 1987 to March 1996, 133 patients with confirmed LCH were admitted to Hospital JP Garrahan in Buenos Aires (123 evaluable). Median age was 5 years (range 15 days to 18 years). Initial organ involvement included bone 114 patients, ear 34, skin 30, liver 18, lung 14, lymph nodes 14, spleen 12, diabetes insipidus 9, and bone marrow 2. Nineteen patients had organ dysfunction, pulmonary 14, hematological 14, and hepatic 12. Two groups were defined: Group A included patients with single system disease (uni- or multifocal) and group B multisystem (with or without organ dysfunction). In group A (n = 82), 24 patients were treated with chemotherapy (prednisone and vinblastine), 21 with surgery, 15 received radiotherapy, and 22 were only observed. Patients of group B (n = 41) were treated with chemotherapy consisting of prednisone and vinblastine, DALHX 83, or LCH1-based chemotherapy. At a median follow-up of 3 years (range 1 month-8 5/12 years) 93% of patients of group A and 39% of group B survive free of reactivation. In group B, 22% had a reactivation and 39% died of progressive disease. Sequelae were detected in 35 patients (28%), which included diabetes insipidus in 17, hearing loss in 13, bony sequelae in 11, sclerosing cholangitis in 6, and lung fibrosis with bullae in 6. Two patients had a subsequent malignant disease. A total of 17 (14%) patients died and 16 of them belonged to the group B: 13 died of progressive disease, 2 due to sclerosing cholangitis (with sepsis in one case and encephalitis in the other one), 1 with progressive disease and associated myelofibrosis, and 1 patient of group A with active disease and brain stem tumor. Patients who had organ dysfunction had a reactivation free survival of 32%. All these patients survived with sequelae. Logistic regression analysis showed that organ dysfunction and hematological involvement had significant predictive values in relation to death. Patients of group A had an excellent survival rate, whereas in those of group B a high mortality was found, especially in the subgroup of patients with organ dysfunction. Lahey's criteria should be revised. Sequelae were also more common in this group.
 ...
PMID:Langerhans cell histiocytosis: retrospective evaluation of 123 patients at a single institution. 1050 13

Therapeutic hypothermia may improve outcome after severe head injury, but its efficacy has not been established in children with a severe head injury. The authors evaluated the effects of hypothemia (33-34 degrees C) in 9 severely closed head-injured children (under 16 years old). The cooling period was 3 to 21 days (mean 9.3). Hypothermia significantly reduced ICP when it reached 33-34 degrees C. From 3 to 6 months after injury, 6 (67%) of the 9 patients had good outcome (good recovery in 2 and moderate disability in 4), but 3 (33%) had poor outcome (severe disability in 2 and vegetative state in one). Complications, including infectious disorders (pneumonia, meningitis, sepsis), cardio-vascular system dysfunction (cardiac arrhythmia, hypotension), decreased platelet counts, hypokalemia, diabetes insipidus, acute pancreatitis occurred during hypothermia in 7 patients (78%). The results of this study suggest that treatment with hypothermia in children with severe head injury is often accompanied complications, but it is an effective method to control intracranial hypertension and may have improved the outcome.
 ...
PMID:[Clinical analysis of hypothermia in children with severe head injury]. 1112 94

Vasopressin, a neurohypophyseal peptide hormone, is the endogenous agonist at V1a, V1b and V2 receptors. The most important physiological function of vasopressin is the maintenance of water homeostasis through interaction with V2 receptors in the kidney. Vasopressin and related compounds are used in various clinical settings such as acute variceal bleeding associated with portal hypertension, septic shock, diabetes insipidus and coagulation disorders. The effect in the former two indications relates to the V1a receptor, and in the two latter indications the effect relates to the V2 receptor. Vasopressin and related compounds have demonstrated activity in animal models of portal hypertension, sepsis and septic shock, diabetes insipidus and coagulation disorders. The use of the compounds in animal models is reviewed. Generally, the effect of vasopressin and related compounds in animal models reflect the activity in the clinical setting, but in some cases important species differences exist.
 ...
PMID:The effect of vasopressin and related compounds at V1a and V2 receptors in animal models relevant to human disease. 1691 9

Arginine vasopressin (AVP) is a key hormone in the human body. Despite the clinical relevance of AVP in maintaining fluid balance and vascular tone, measurement of mature AVP is difficult and subject to preanalytical errors. Recently, copeptin, a 39-amino acid glycopeptide that comprises the C-terminal part of the AVP precursor (CT-proAVP), was found to be a stable and sensitive surrogate marker for AVP release, analogous to C-peptide for insulin. Copeptin measurement has been shown to be useful in various clinical indications, including the diagnosis of diabetes insipidus and the monitoring of sepsis and cardiovascular diseases. Here we review recent findings regarding the relationship between AVP and copeptin, and affirm the value of AVP as a surrogate marker for AVP.
 ...
PMID:Copeptin: clinical use of a new biomarker. 1829 67

The study conducted by Seligman and coworkers included in the previous issue of Critical Care demonstrates that copeptin is a promising marker to predict outcome in patients with ventilator-associated pneumonia. In recent years, copeptin has emerged as a new prognostic marker in a variety of diseases, such as sepsis, community-acquired pneumonia, chronic obstructive pulmonary failure, heart failure and myocardial infarction. What is the pathophysiological basis for these findings? Copeptin together with vasopressin is co-secreted from the posterior pituitary and therefore mirrors the amount of vasopressin in the circulation. Vasopressin is a main secretagogue of the hypothalamo-pituitary-adrenal axis, thereby mirroring the individual stress level. Furthermore, vasopressin is an important hormone in salt and volume regulation. In this context, copeptin is also a diagnostic marker in patients with diabetes insipidus and in patients with disordered water states.
 ...
PMID:Copeptin: a new and promising diagnostic and prognostic marker. 1825 6

The rate of symptomatic improvement of visual symptoms associated with hematogenous metastases to the sella and pituitary was evaluated retrospectively in seven patients (five men, two women; mean age, 52.3 years) with primarily visual symptoms (diplopia alone in three, diplopia with blurred vision in one, blurred vision alone in one, loss of peripheral vision in one, and unilateral complete blindness in one). Symptom duration ranged from 0.5 to 2 months. The primary diseases were non-small cell lung cancer in two patients, renal cell carcinoma in two patients, prostate cancer in two patients, and medullary thyroid carcinoma in one patient. All patients had widespread metastatic disease. Three patients had a suprasellar tumoral component. One patient had a clival extension, and one patient had extension into the cavernous sinus. All underwent trans-sphenoidal surgery to correct visual symptoms. Gross total resection was achieved in three patients. Subtotal resections and a partial resection were performed in three patients and one patient, respectively. Surgical blood loss averaged 282 mL. One patient died from sepsis. Five patients developed complications (cerebrospinal fluid leakage in three, diabetes insipidus in two, anterior pituitary dysfunction in two, and colitis in one). At a mean follow-up of 15 months, three patients were alive. Visual symptoms improved in five patients and were unchanged in two. Trans-sphenoidal surgery helped improve visual symptoms in most patients. The morbidity rate was high and likely related to the locally destructive and extensive nature of the lesions in overall morbid patients with widespread metastatic disease. Unless nonoperative measures can provide equal results, however, this approach provides reasonable palliation.
 ...
PMID:Efficacy of Trans-septal Trans-sphenoidal Surgery in Correcting Visual Symptoms Caused by Hematogenous Metastases to the Sella and Pituitary Gland. 1876 52

Copeptin denominates the C-terminal fragment of the vasopressin (AVP) precursor hormone. Circulating copeptin levels reflect the activity of the AVP system and correlate closely with plasma osmolality. The measurement of stimulated plasma AVP levels is crucial in the differential diagnosis of diabetes insipidus, particularly the characterization of partial forms, and is used to diagnose primary polydipsia. However, determination of AVP levels is technically demanding, and validated assays are not readily available for clinical routine. Recently, a reliable sandwich immunoassay for measurement of serum or plasma copeptin levels has been introduced. Assaying stimulated copeptin levels will be helpful in the differential diagnosis of diabetes insipidus. Recent studies suggest that measurement of copeptin, once the assay is commercially available, might prove useful in the workup of hyponatremic disorders. Moreover, copeptin has been found to be a prognostically relevant biomarker in a variety of illnesses such as sepsis, shock, pneumonia, acute exacerbation of COPD, heart failure, and myocardial infarction.
 ...
PMID:[Copeptin: diagnostic parameter, biomarker, or both?]. 1988 89

Little has been reported on fetal diagnosis of choroidal fissure cysts and prediction of the clinical complications that can result. We describe the case of a near-term male infant with prenatally diagnosed choroidal fissure cyst and bilateral clubfeet. His prolonged course in the neonatal intensive care nursery was marked by severe panhypopituitarism, late-onset diabetes insipidus, placement of a cystoperitoneal shunt, and episodes of sepsis. Postnatal genetic evaluation also revealed an interstitial deletion involving most of band 10q26.12 and the proximal half of band 10q26.13. The patient had multiple readmissions for medical and surgical indications and died at 6 months of age. This case represents the severe end of the spectrum of medical complications for children with choroidal fissure cysts. It highlights not only the importance of comprehensive evaluation and multidisciplinary management and counseling in such cases, but also the need for heightened vigilance in these patients.
 ...
PMID:Newborn with prenatally diagnosed choroidal fissure cyst and panhypopituitarism and review of the literature. 2370 98


1 2 Next >>