Gene/Protein Disease Symptom Drug Enzyme Compound
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Twenty knee dislocations in 19 patients (one bilateral) occurred over a period of 20 years. The age range was 21 to 65 years, with an average age of 40.8 years. There were two popliteal artery and eight peroneal nerve injuries in the group. All patients were managed by early closed reduction at the scene of the accident or at the admitting hospital. Treatment consisted of 13 acute arthrotomies with complete ligamentous repair, one partial ligament repair, two delayed repairs, and four cast applications. Both anterior and posterior cruciate ligaments were torn in each knee surgically examined. In contrast to cruciate injuries in nondislocated knees, avulsion of bone of the PCL was present in 14 of 16 and of the ACL in ten of 16. Complete follow-up study including examination and radiographic evaluation was obtained on 18 knees in 17 patients. Special investigations of 13 with acute complete ligament repair, followed from 12 months to 48 months (average of 24 months), showed loss of joint motion following this injury. Clinical instability was generally not a problem, but chronic pain and discomfort were present in 46%. The average knee diagnostic score was 43. Seventy-seven percent of the patients returned to vigorous sports activities. Early operative repair followed by cast bracing and manipulation at three months (if flexion was less than 90 degrees) is recommended in young, active patients.
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PMID:Complete knee dislocation. A follow-up study of operative treatment. 402 70

The results of a user satisfaction questionnaire, treatment assessment questionnaire, and global well being schedule questionnaire administered to women participating in an open-labeled, nonrandomized, parallel, controlled study is reported in this paper. The study compared a new monthly injectable contraceptive containing 25 mg medroxyprogesterone acetate (MPA) and 5 mg estradiol cypionate (E2C) with a triphasic norethindrone (0.5, 0.75, 1.0 mg)/0.035 mg ethinyl estradiol (NET/EE) oral contraceptive. Approximately 85% of 1103 women enrolled in the comparative trial completed their initial and final questionnaires. Despite the inherent inequalities in comparing an injectable to oral contraception, few treatment assessment and satisfaction outcomes were significantly different when comparing MPA/E2C users to new NET/EE users. More women in the MPA/E2C group reported discomfort with their method compared to the women in either the new or previous NET/EE user group. However, only 19.4% of MPA/E2C users rated the administration of their contraceptive to be moderately uncomfortable or worse, compared to 11.7% of new NET/EE users and 13.4% of previous NET/EE users. Among MPA/E2C users, 86.3% reported no interference with social activities compared with 90.4% of new NET/EE users. MPA/E2C and new NET/EE users were also similar in their responses recommending their respective contraceptive method to friends. These data support the premise that MPA/E2C may become the well-accepted, first-line contraceptive option for women in the US.
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PMID:Patient acceptability and satisfaction with Lunelle monthly contraceptive injection (medroxyprogesterone acetate and estradiol cypionate injectable suspension). 1064 Jan 68

Milroy's primary congenital lymphedema (PCL) (hereditary lymphedema type I, Milroy disease) is present at birth, and mostly affects the dorsal aspects of feet. It is mostly a life-long condition but does not affect longevity. Complications are rare except for chronic discomfort and warmness of affected areas. PCL is an autosomal dominant disease with incomplete penetrance due to a mutation in the gene locus encoding for VEGFR3 with resultant dysgenesis of microlymphatic vessels. We report on two fetuses where ultrasonographic examination at 15 weeks of gestation showed significant edema of the dorsal aspects of both feet with no evidence of other major malformations. Whereas in one fetus the edema resolved completely, it persisted in the second fetus and proved after birth to be of lymphedematous nature. To the best of our knowledge, this is the first report of early prenatal diagnosis of primary congenital lymphedema via fetal ultrasonographic examination and of spontaneous resolution of lymphedema during fetal life.
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PMID:Prenatal diagnosis of Milroy's primary congenital lymphedema. 1222 79

Intra-articular ganglia and cysts of the knee joint are rare and mostly incidental findings in MRI and arthroscopy. During a period of 15 years, nearly 8000 knees were arthroscopically examined. In total, 85 intra-articular soft tissue masses were found within the knee cavity. Of these, 76 were incidental and asymptomatic findings in arthroscopy performed for treatment of osteoarthritic symptoms. Several repeated minor knee traumata were reported in this group but no histories of serious traumatic events. Nine ganglion cysts were obviously solely responsible for the intermittent or chronic non-specific knee discomfort, and classified as symptomatic. There were no histories of previous injury to the knees, no clinical signs of instabilities or meniscal and femoropatellar pathologies, and no associated further intra-articular lesions in arthroscopy. Forty-nine cystic masses originated from the ACL, 16 from the PCL, 12 from the anterior (eight medial, four lateral) and three from the posterior horn of the menisci (two medial, one lateral). Three were located in the infrapatellar fat pad, one arose from a medial plica and one from a subchondral bone cyst. All ganglion cysts were successfully resected or excised using arthroscopic technique. A review of the literature is given and compared with the findings and data of this study.
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PMID:Intra-articular ganglion cysts of the knee joint: a report of 85 cases and review of the literature. 1450 17

"Dialysis-related side effects have been identified as an important cause of reduced dialysis efficiency" (Donauer, Kolblin, Bek, Krause & Bohler, 2000, p. 115). Certain patients experience symptomatic hypotension with hemodialysis treatments, adding to patient discomfort and morbidity, and preventing optimal fluid removal. These symptoms require prompt nursing interventions to mitigate potentially severe complications. Technology today allows for continuous non-invasive monitoring of blood volume during the hemodialysis treatment, automatic measurement and recording of blood pressure, and the use of sodium modelling and ultrafiltration (UF) profiles. As a teaching strategy, as well as a quality improvement initiative, a task force of volunteer staff nurses was established to monitor selected patients, utilizing this technology, in an effort to reduce episodes of hypotension and improve patient outcomes. A special project team was recruited, in-services on blood volume monitoring, sodium and UF profiling were held for all staff, and tools to assess the current status of the patient and monitor progress were designed and implemented. Patients who were followed reported feeling better and experienced fewer hypotensive episodes. These outcomes are likely a result of several factors including: intensive monitoring by a consistent group, review and analysis of dialysis records every two weeks, implementation of several interventions (such as instituting sodium ramping, changing UF profiles, changing antihypertensive medication, and/or patient education), and evaluating these changes within two weeks.
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PMID:A quality initiative--can we reduce the incidence of hypotension during hemodialysis? 1554 70

Calcifications within primary gastrointestinal tumors are rare. Gastrointestinal stromal tumor (GIST) is an unusual nonepithelial tumor that develops in the gastrointestinal tract. In this paper we describe a case of spurt bleeding from a calcificated GIST in the stomach successfully treated by partial gastric resection. A 77-year-old man was admitted for chest discomfort and loss of consciousness. Endoscopic examination revealed spurt bleeding from the top of the submucosal tumor. No other lesions or points of bleeding were found in the stomach. Emergency partial gastrectomy was performed, and the stomach was closed. The cut surface of the tumor had a firm, solid, whitish-gray parenchyma with patchy calcification. Microscopic observation revealed a profusion of spindle-shaped tumor cells with calcification growing from the gastric muscular propria to the submucosa. The cells exhibited low mitotic activity and no prominent signs of nuclear atypia. Immunohistochemical staining of the tumor demonstrated positive reactivity for CD34, KIT, and vimentin, but negative reactivity for alpha-smooth muscle actin, desmin, and S-100 protein. Tumor cells positive for Mib-1 were rare. The diagnosis of the tumor was established as GIST.
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PMID:Spurt bleeding from a calcificated gastrointestinal stromal tumor in the stomach. 1624 32

Dermatologic toxicities associated with EGFR inhibitors can have a profound impact on patients' health-related quality of life (HRQL) and may interfere with treatment adherence. We interviewed 20 patients and 12 expert clinicians to identify the most bothersome aspects of dermatologic toxicities to better understand the impact on patients' HRQL Patients and expert clinicians reported that dermatologic toxicities have an impact on patients' physical, functional, emotional, and social well-being. Patients identified the physical discomfort as having the most impact on their HRQL, specifically the sensations of pain, burning, and skin sensitivity. Patients experienced worry, frustration, and depression because of their dermatologic symptoms and reported withdrawing from social activities. Cognitive behavioral strategies such as guided imagery and symptom reframing (eg, rash means treatment is working) may provide patients with valuable skills for the management of this physical discomfort. Cognitive behavioral strategies may also be useful in helping patients manage anxiety and depression associated with any changes in their social function caused by skin rash, as well as distress associated with having a cancer diagnosis.
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PMID:Dermatologic toxicities associated with EGFR inhibitors: the clinical psychologist's perspective. Impact on health-related quality of life and implications for clinical management of psychological sequelae. 1815 17

The human epidermal growth factor receptor (HER1/EGFR/ErbB1) signaling is aberrant and overexpressed in many solid malignancies making it an appealing target for biologic agents. Among the classes of drugs targeting EGFR are monoclonal antibodies and EGFR tyrosine kinase inhibitors, which have been shown effective and generally well tolerated in different clinical settings. The majority of patients treated with EGFR inhibitors (EGFRIs) develop specific dose-dependent skin toxicity. This side effect may lead to physical and psychosocial discomfort which can result in dose reduction or treatment interruption. The relationship between rash and clinical outcome has stimulated interest in this particular toxicity as a possible surrogate marker of efficacy in patients treated with targeted agents against EGFR. This review aims to summarize and update the current knowledge of the clinical presentation, predictive and prognostic value, and the management of EGFRI-related skin toxicity.
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PMID:Epidermal growth factor receptor inhibitor-related skin toxicity: mechanisms, treatment, and its potential role as a predictive marker. 1827 75

Fecal incontinence in a bedridden patient is a common problem which upsets the patient's well-being. Besides the discomfort and the hygienic problem which this situation cause, complications related to these can arise. Recently a fecal derivation system called Flexi-Seal FMS has appeared on the market; this system is destined to control fecal incontinence in a bedridden patient. This device bears the characteristic which make it ideal for the control of fecal incontinence in a bedridden patient; furthermore, this device reduces nurses' workload, as well as the length of hospital stay and hospital costs.
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PMID:[Fecal control system Flexi-Seal FMS]. 1904 72

The author herein reports histopathologic features of 31 surgical cases of gastrointestinal stromal tumor (GIST) of the digestive organs. The 31 cases of GIST were diagnosed in our pathology laboratory. They consisted of 24 cases of gastric GIST, 1 case of hepatic GIST, 1 case of small intestinal GIST, 4 cases of colon GIST, and 1 case of rectal GIST. The age of the patients ranged from 56 year to 84 years with a mean of 71 years. Male to female ratio was 21:10. The presenting symptoms were gastrointestinal bleeding in 13 cases, abdominal pain and discomfort in 13 cases, and asymptomatic in 5 cases. Endoscopy and imaging modalities including US, CT and MRI were useful to detect the tumors in all cases, and biopsies confirmed the GIST diagnosis in 21 cases. The size of GIST ranged from 1 cm to 12 cm with a mean of 4.3 cm. Grossly, 23 cases were submucosal tumors, 6 serosa-side tumors, 1 solid tumor in the liver, and 1 rectal polyp. Histologically, 28 cases were of spindle cell type and 3 of epithelioid type. According to mitotic counts and tumor size, the malignant risk was very low in 4 cases, low in 14 cases, intermediate in 9 cases, and high in 4 cases. Immunohistochemically, all cases were positive for KIT and vimentin, 30 cases for CD34, and 4 cases for alpha-smooth muscle actin. None were positive for desmin and S100 protein. Ki-67 labeling ranged from 2% to 18%. P53 protein was negative in all cases. PDGFRA was positive in 20 cases among 24 cases examined. Genetic analysis using PCR-direct sequencing method was performed in 5 GISTs; all the 5 GISTs showed point mutations or deletions in KIT gene, but did not in PDGFRA gene. The 5 cases of GIST were positive for PDGFRA protein, suggesting that PDGFRA overexpression is not associated with PDGFRA gene mutations. Four of the 31 cases showed metastases. The chemotherapy was imatinib mesylate in 6 cases, and none in 25 cases. Four cases of high risk died of GIST, and 27 cases are alive now without tumors.
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PMID:Gastrointestinal stromal tumor of the digestive organs: a histopathologic study of 31 cases in a single Japanese institute. 2012 84


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