Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C1762617 (weakness)
 37,932 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Among 30 pregnant women with EPH-gestosis activity of myeloperoxidase was significantly decreased and activity of acid phosphatase was not much increased. Results of scientific researches can confirm the fact of weakness of anti-infection immunity among women with EPH-gestosis in compare with healthy pregnant women.
 ...
PMID:[Activity of acidic granulocyte phosphatase and myeloperoxidase among women with EPH gestosis]. 133 34

We performed a combined manual and computer search of the FMS literature to identify controlled clinical trials in FMS from 1980 to June 1994 inclusive. Our specific objectives were: 1) to determine which outcome measures have been used in clinical trials for FMS, and the methods utilized to measure these outcomes; 2) to identify which outcome measures were most and least sensitive in distinguishing between treatment groups, and 3) to identify weakness in trial design. Our analysis of 24 clinical trials demonstrates the large diversity of outcome measures and measurement instruments that have been used to detect differences between treatment and placebo in the management of FMS. Whereas certain outcomes, such as self-reported pain and sleep quality, were frequently measured, other clinically important outcomes, such as functional and psychological status, were infrequently included in data collection. Finally, we identified several significant potential sources of bias, including potential flaws in subject selection and group allocation, inadequate randomization, incomplete blinding, errors in outcome measurement, and inappropriate analysis of data.
 ...
PMID:An analytical review of 24 controlled clinical trials for fibromyalgia syndrome (FMS). 874 May 97

As part of TFIIH, XPB and XPD helicases have been shown to play a role in nucleotide excision repair (NER). Mutations in these subunits are associated with three genetic disorders: xeroderma pigmentosum (XP), Cockayne syndrome (CS) and trichothiodystrophy (TTD). The strong heterogeneous clinical features observed in these patients cannot be explained by defects in NER alone. We decided to look at the transcriptional activity of TFIIH from cell lines of XP individuals. We set up an immunopurification procedure to isolate purified TFIIH from patient cell extracts. We demonstrated that mutations in two XP-B/CS patients decrease the transcriptional activity of the corresponding TFIIH by preventing promoter opening. The defect of XPB in transcription can be circumvented by artificial opening of the promoter. Western blot analysis and enzymatic assays indicate that XPD mutations affect the stoichiometric composition of TFIIH due to a weakness in the interaction between XPD-CAK complex and the core TFIIH, resulting in a partial reduction of transcription activity. This work, in addition to clarifying the role of the various TFIIH subunits, supports the current hypothesis that XP-B/D patients are more likely to suffer from transcription repair syndromes rather than DNA repair disorders alone.
 ...
PMID:Mutations in XPB and XPD helicases found in xeroderma pigmentosum patients impair the transcription function of TFIIH. 1006 1

HELLP syndrome belongs to the group of pathological states known as pregnancy-induced hypertension or EPH gestosis. The basic criteria for establishing the diagnosis are as follows: H for hemolysis, EL for elevated liver enzymes and LP for low platelets. A pregnant woman, 38 years of age, multipara (V pregnancy, third delivery) has been admitted to the Clinic of Gynecology and Obstetrics in Novi Sad in 36-37 week gestation complaining of nausea, vomiting, epigastric pain, general weakness, exhaustion as well as symptom of previously diagnosed preeclampsia. Due to signs of fetal distress, the patient has undergone urgent cesarean section, giving birth to a female premature newborn infant. Twenty-four hours after delivery all symptoms and signs HELLP syndrome manifested. Being in a critical state, the patient has been transferred to the Institute of Surgery, Clinic of Anesthesiology and Intensive Care with signs of multiple organ failure. With this case report of a patient with HELLP syndrome, we wished to point to importance of continual intensive clinical follow-up, laboratory monitoring and corresponding therapeutic procedures, and at the same time to this relatively rare syndrome.
 ...
PMID:Intensive-care management of a patient with HELLP syndrome--case report. 1051 6

Injectable progestogen, norethisterone enanthate (NET-EN, 200 mg/ml) was administered to 122 women at 2 month intervals for more than 1 year. Only a minority of women had consistently normal cycles. Most women experienced some menstrual irregularities: 57% of users experienced irregular bleeding, 32% developed amenorrhea, while only 11% showed regular cyclic bleeding. Important nonmenstrual side effects were weakness and abdominal pain. No appreciable changes in body weight and blood pressure were recorded.
 ...
PMID:Clinical trial of a long-acting injectable contraceptive: NET-EN. 1231 44

Medullary thyroid carcinoma (MTC) rarely causes ectopic ACTH syndrome. We describe a 38-yr-old man with renal stones who had a 5-cm MTC removed in 1992. He was RET-protooncogene positive (codon 618). Serum calcitonin was 1597 pg/ml postoperatively. In 1996 he had rib fractures, bruising, weakness, and three to four stools per day. Laboratory studies revealed an elevated 24-h urine-free cortisol (780 micro g/d), epinephrine (66 micro g/d), and calcium (558 mg/d). Baseline serum cortisol was 23.9 micro g/dl and decreased to 12.9 and 4.5 micro g/dl after 2 mg and 8 mg dexamethasone suppression, respectively. Plasma ACTH was 170 pg/ml and decreased to 75 and 24 pg/ml after dexamethasone. Bone density t-score was -4.3 (trochanter). Computed tomography scans showed multiple cervical nodes and 2-cm right adrenal nodule. Magnetic resonance imaging (MRI) scan showed a prominent, homogeneous pituitary; the adrenal MRI scan was not typical for a pheochromocytoma. Serum CRH was less than 6.6 pg/ml. Bilateral adrenalectomy revealed two adjacent right adrenal pheochromocytomas and corrected the elevated urine cortisol (30 micro g/d), epinephrine (0 micro g/d), and calcium (281 mg/d) but not plasma ACTH (125 pg/ml). Neck dissection reduced calcitonin by 96% (5300 to 120 pg/ml) and ACTH by 91% (125 to 11 pg/ml). Carcinoembryonic antigen was reduced from 32.0 to 2.3 ng/ml. Immunohistochemical stain was negative for ACTH in the MTC-positive lymph nodes and the pheochromocytoma. Proopiomelanocortin mRNA by in situ hybridization was positive in the MTC but not in the pheochromocytoma. A repeat pituitary MRI scan was normal. The differential diagnosis of ACTH-dependent Cushing's syndrome in this case included pituitary disease or ectopic ACTH, either from medullary thyroid carcinoma or pheochromocytoma. ACTH stains were unrevealing, but proopiomelanocortin mRNA in situ hybridization in MTC tissue and plasma ACTH response to neck dissection confirmed MTC as the source of ectopic ACTH.
 ...
PMID:Cushing's syndrome due to medullary thyroid carcinoma: diagnosis by proopiomelanocortin messenger ribonucleic acid in situ hybridization. 1455 23

Hereditary sensory neuropathies (HSNs) are a group of genetically determined peripheral neuropathies with prominent disturbance of the peripheral sensory neurons. They are characterized by sensory loss, insensitivity to pain, a variable degree of muscle weakness and wasting, as well as autonomic features. Frequent complications are foot ulcerations and infections that may lead to osteomyelitis, followed by necrosis and amputations. Consequently, the hereditary sensory neuropathies have also been termed ulceromutilating neuropathies. On the other hand, in the presence of additional motor weakness, they have been subclassified among the group of Charcot-Marie-Tooth (CMT) disorders. Sporadic and familial cases with different modes of inheritance are known to affect both children and adults. The most prevalent forms of the autosomal dominantly inherited hereditary sensory neuropathies are HSN I and CMT 2b. HSN I is associated with mutations in the SPTLC1 gene, whereas mutations in the RAB7 gene have been identified in CMT 2b. However, at least one more hitherto unknown gene responsible for autosomal-dominant hereditary sensory neuropathies must exist. Autosomal-recessive hereditary sensory neuropathies types III and IV, and probably also type V, result from mutations in the IKBKAP and NTRK1 genes. Very recently, the gene in HSN II (HSN2) has been identified. A spontaneous autosomal-recessive mutation in the Cct4 gene has been reported in the Sprague-Dawley rat strain with early onset sensory neuropathy. Although no curative treatment is available so far, and current therapy is limited to symptom relief, these molecular genetic advances in knowledge about the hereditary sensory neuropathies can be translated into clinical practice by improving diagnosis and genetic counseling. They will also be the basis for functional studies in the future.
 ...
PMID:Hereditary sensory neuropathies. 1531 94

Gastrointestinal stromal tumors (GISTs) historically have differed from other soft-tissue sarcomas in demonstrating a particularly grim prognosis. GISTs have an extraordinarily high rate of recurrence after surgical resection and are highly resistant to radiation and standard chemotherapy. The discovery that constitutive activation of the c-kit gene drives malignant behavior in GISTs exposed a weakness that was soon exploited through the application of the novel targeted therapy imatinib, a small-molecule tyrosine kinase inhibitor of Bcr-Abl, KIT, and the platelet-derived growth factor receptor-alpha and -beta. Imatinib had shown unparalleled results in patients with advanced chronic myelogenous leukemia (remission rates approaching 98%), and the first GIST patients treated with imatinib demonstrated dramatic response rates unseen with other therapeutic modalities. Thousands of patients worldwide with advanced GIST have been treated with imatinib, with the demonstration of significant response rates, prolongation of survival, and improvement in quality of life. Studies of imatinib in both the neoadjuvant and adjuvant settings are now being conducted to evaluate whether low rates of cure with surgical resection alone can be improved. Additionally, multiple new targeted agents are being tested in patients with imatinib-resistant GIST. The gains that have been made in the treatment of GIST through the use of imatinib have helped to open the door to a new era of development of targeted therapeutic agents in oncology. Whether this new era of targeted therapy will provide the same advances in more common malignancies will be determined only through the ongoing application and development of clinical trials.
 ...
PMID:Gastrointestinal stromal tumors and the evolution of targeted therapy. 1616 51

Primary hyperparathyroidism (PHPT) is characterized by excessive PTH secretion in respect to calcium homeostasis needs, due to parathyroid adenoma (80% of cases), hyperplasia (15-20%), or carcinoma (1-2%). In familial forms of PHPT, several mutations have an established role: menin gene for MEN type 1, RET for MEN type 2a, calcium-sensing receptor gene for familial hypocalciuric hypercalcemia, parafibromin gene for PHPT-jaw tumour and carcinoma. Etiology of sporadic adenomas (80% of PHPT cases) is less defined, being most commonly found a mutation of menin gene or activation of PRAD1 oncogene. In recent years, the classical features of the disease became less common. Typically, bone involvement is now represented by a reduced bone mass at skeletal sites more rich in cortical tissue. Prominently trabecular skeletal sites are relatively spared, because of the anabolic effects of a slight PTH excess on trabecular tissue. PHPT patients may have increased fracture risk, though it is not clear why bone damage is more severe in a subgroup of patients. Clinical features of hypercalcemia may be fatigue, anorexia, thirst, and polyuria. Vague neurological and psychiatric symptoms, such as weakness, anxiety, depression, paresthesias, and muscular cramps may ameliorate after parathyroidectomy. Recent reports indicate increased cardiovascular mortality in PHPT patients. Diagnosis is based on the detection of hypercalcemia, together with inappropriately high serum PTH levels. Preoperative localization of the diseased glands is mandatory in persistent or recurrent PHPT, as like as when minimally invasive surgery is planned. High resolution ultrasonography and SPECT double-phase 99m Tc-sestamibi scintigraphy are the most commonly employed techniques. Intraoperatory PTH assay may confirm successful surgery when serum concentrations decrease more than 50%. Surgical therapy is indicated in patients with renal or skeletal complications, such as in those with previous parathyrotoxic crisis. Many surgeons in recent years adopted minimally invasive parathyroidectomy. Medical treatment is an option for patients unwilling or unfitted for surgery because of severe concomitant diseases. Employed therapy includes estrogens, SERMs, bisphosphonates and calcimimetics.
 ...
PMID:[Primary hyperparathyroidism]. 1638 70

Brucellosis is a significant health problem in countries where control of zoonoses is inadequate. During 1993-98, we analysed sera and cultures from 792 suspected brucellosis patients who presented with histories of fever, chills, night sweating, weakness, malaise and headache to the referral hospital in Yazd. Cases were investigated by tube agglutination test (TAT) and 2-mercaptoethanol test (2-MET) and a questionnaire was completed for each.TAT titre was > or = 1:1 60 for 745 patients (94.1%) and 2-MET was positive for 42 (5.3%). Of 745 confirmed cases, 460 were from 1996-1997. Prevalence was highest in summer (39.5%) and more common males than among females. Prevalence was highest among those aged 10-19 years (27.7%). Most patients had a history of infected cheese, milk and milk product consumption (98%).
 ...
PMID:Selected epidemiological features of human brucellosis in Yazd, Islamic Republic of Iran: 1993-1998. 1645 May 37


1 2 3 4 5 6 7 8 Next >>