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Paroxysmal nocturnal hemoglobinuria (PNH) is a rare acquired disorder of hematopoietic stem cells characterized by chronic intravascular hemolysis, nocturnal hemoglobinuria, thromboembolic events and secondary bone marrow failure caused by uncontrolled complement activation. Generally, chronic abdominal pain and iron deficiency anemia are considered typical symptoms of gastrointestinal diseases, but are also common in PNH. We report a case of PNH presenting with chronic abdominal pain and iron deficiency anemia, along with a relevant literature review.
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Follicular lymphoma is the most common form of low-grade B cell lymphoma. Follicular lymphoma occurs predominantly at lymph node sites and rarely in the gastrointestinal tract. Rare gastrointestinal follicular lymphoma is most commonly found in the small intestine, especially in the duodenum, and appears as multiple granules. However, gastric follicular lymphoma mostly appears as a subepithelial tumor. We observed two primary gastric follicular lymphomas that resembled subepithelial tumors located in the body of the stomach. Endoscopic ultrasound revealed hypoechoic lesions located in the submucosa layer. Since endoscopic forceps biopsies were inconclusive, we performed endoscopic submucosal dissection, which resulted in a final pathologic diagnosis of follicular lymphoma. Because of the indolent nature of gastrointestinal follicular lymphoma, the “watch and wait” strategy can be applied in the early phase. The identification of endoscopic characteristics of gastric follicular lymphoma can be helpful for differential diagnosis and decision of treatment strategy. Therefore, we report two cases of primary gastrointestinal follicular lymphoma diagnosed following endoscopic submucosal dissection.
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Biópsia , Diagnóstico , Diagnóstico Diferencial , Duodeno , Trato Gastrointestinal , Intestino Delgado , Linfonodos , Linfoma de Células B , Linfoma Folicular , Estômago , Instrumentos Cirúrgicos , UltrassonografiaRESUMO
Primitive neuroectodermal tumor (PNET) arising primarily in the lung is an extremely rare and aggressive malignancy with poor chances of patient survival. We present a case of long-term survival by a 29-year-old woman with PNET diagnosed after a hertological and immunohertochemical examination of a biopsy specimen obtained by performing video-assisted thoracic surgery. The patient underwent a left lower lung lobe lobectomy and 6 cycles of adjuvant chemotherapy. The patient has been free of any symptoms of the recurrence of the disease for 6 years after treatment completion.
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Adulto , Feminino , Humanos , Biópsia , Quimioterapia Adjuvante , Pulmão , Tumores Neuroectodérmicos Primitivos , Recidiva , Sarcoma de Ewing , Cirurgia Torácica VídeoassistidaRESUMO
Protein losing enteropathy (PLE) due to systemic lupus erythematosus (SLE) is relatively uncommon. PLE may be appeared sequentially after the diagnosis of SLE or concurrently with SLE. In most of concurrent cases, PLE was diagnosed one of various symptoms of SLE. Cases of PLE as the initial and only clinical presentation of SLE have been rarely reported. We described a 30-year old woman with general edema and abdominal distension was diagnosed PLE after stool alpha 1 antitrypsin clearance test. Her symptoms were getting worse even though the treatment with intravenous albumin. She was finally diagnosed PLE associated with SLE by additional laboratory findings (positive antinuclear antibody and anti-dsDNA IgG and low C3, C4 and CH50). She was treated with high dose of steroids and her symptoms were improved.
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Feminino , Humanos , alfa 1-Antitripsina , Anticorpos Antinucleares , Diagnóstico , Edema , Imunoglobulina G , Lúpus Eritematoso Sistêmico , Enteropatias Perdedoras de Proteínas , EsteroidesRESUMO
Malignant melanoma is one of the most common malignant diseases of the gastrointestinal tract. It has been reported that the malignant melanoma metastasizes not only to the small intestine due to the abundant blood supply, but also to the stomach, colon, and esophagus. Gastrointestinal metastasis is usually suspected depending on the clinical symptoms, as well as based on radiological or endoscopic findings. Imunohistochemical stains, such as Melan-A/Melanoma antigen recognized by T cell-1 or human melanoma black-45, are useful for confirming the diagnosis of malignant melanoma. A 44-year-old male received an operation due to a malignant melanoma at the left thumb two years ago. On the national health screening endoscopy, a submucosal tumor with hyperemic change on the top was found. The final diagnosis was a metastatic malignant melanoma in the stomach, pancreas, and pelvic bone. We recommend that endoscopists should consider the potential malignancy of subepithelial tumor with mucosa change, despite the tumor size being less than 1 cm.
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Adulto , Humanos , Masculino , Colo , Corantes , Diagnóstico , Endoscopia , Esôfago , Trato Gastrointestinal , Intestino Delgado , Programas de Rastreamento , Melanoma , Mucosa , Metástase Neoplásica , Pâncreas , Ossos Pélvicos , Estômago , PolegarRESUMO
Severe fever with thrombocytopenia syndrome (SFTS) is an emerging disease caused by the SFTS virus (family Bunyaviridae, genus Phlebovirus). A 77-year-old female farmer was bitten by a tick and developed a fever 5 days later, resulting in admittance to the emergency room. The laboratory findings showed elevated liver enzyme levels, thrombocytopenia, and leukopenia. Lymphoma was suspected based on computed tomography results. After confirming SFTS virus infection via the polymerase chain reaction, a bone marrow biopsy revealed hemophagocytic lymphohistiocytosis (HLH). HLH is rarely observed in patients with SFTS and few studies have reported the presence of SFTS in bone marrow. Here, we report a case of SFTS that was initially mistaken for a lymphoma, and was accompanied by HLH.
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Idoso , Feminino , Humanos , Biópsia , Medula Óssea , Bunyaviridae , Serviço Hospitalar de Emergência , Fazendeiros , Febre , Leucopenia , Fígado , Linfo-Histiocitose Hemofagocítica , Linfoma , Reação em Cadeia da Polimerase , Trombocitopenia , CarrapatosRESUMO
PURPOSE: To investigate mid-term clinical outcomes of various methods of scapholunate reconstruction for chronic scapholunate instability. METHODS: We retrospectively reviewed 11 patients diagnosed as chronic scapholunate instability, from 2005 to 2013 and followed up for more than one year after surgery. 7 patients were treated with Garcia technique of triple ligament reconstruction, 2, bone-ligamemt-bone repair, and 2, dorsal capsulodesis. Mean age was 42 years (range, 23-61 years). The right side was involved in 6 patients, and the left in 5. The follow-up period averaged 42 months (range, 13-125 months). The postoperative functional outcomes were assessed with Modified Mayo wrist score (MMWS), disability of the arm, shoulder and hand (DASH) score and range of motion. The postoperative radiologic results were analyzed with the change of scapholunate angle and distance. RESULTS: The mean MMWS score improved from 65 preoperatively to 77 postoperatively (p=0.072). The mean DASH score improved from 29.4 (range, 18.3-43.3) preoperatively to 12.7 (range, 0-38.3) postoperatively (p=0.003). The dorsiflexion increased from 67° to 78°, the volar flexion decreased from 51° to 45°, the supination increased from 69° to 88°, and the pronation increased from 62° to 66°. The SL angle changed from 55° preoperatively to 51° postoperatively, the mean SL distance changed from 3.4 mm preoperatively to 1.7 mm postoperatively. CONCLUSION: The chronic scapholunate instability is amenable to various techniques and postoperative functional outcomes improved satisfactory.
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Humanos , Braço , Seguimentos , Mãos , Ligamentos , Pronação , Amplitude de Movimento Articular , Estudos Retrospectivos , Ombro , Supinação , PunhoRESUMO
Here, we present a case of desquamative interstitial pneumonia (DIP) that was initially misdiagnosed as chronic eosinophilic pneumonia due to an increased number of eosinophils in the bronchoalveolar lavage fluid (BALF). A 56-year-old male smoker presented with a productive cough that had been present for 1 month. High-resolution computed tomography (HRCT) revealed multifocal patchy ground-glass and reticular opacities in the subpleural area. BALF analysis revealed an elevated level of eosinophils (37%). Thus, the patient was initially diagnosed with chronic eosinophilic pneumonia and was administered prednisolone (0.5 mg/kg/day). However, his symptoms and the diffuse infiltrative shadows on HRCT did not improve after 2 months of treatment, and a video-assisted thoracoscopic lung biopsy led to the diagnosis of DIP. Prednisolone (1 mg/kg/day) was administered again, and the patient's symptoms improved. At 1 year after the end of treatment, the patient remained symptom-free.
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Humanos , Masculino , Pessoa de Meia-Idade , Biópsia , Líquido da Lavagem Broncoalveolar , Lavagem Broncoalveolar , Tosse , Diagnóstico , Eosinófilos , Pneumonias Intersticiais Idiopáticas , Pulmão , Doenças Pulmonares Intersticiais , Prednisolona , Eosinofilia PulmonarRESUMO
BACKGROUND: The association of osteoporotic vertebral fracture or osteoporosis with coronary artery disease (CAD) was investigated in Korean men and women. METHODS: Four hundred consecutive postmenopausal women and men aged 50 years and older, undergoing coronary angiography, were enrolled for the evaluation of established or suspected coronary artery disease. CAD was diagnosed if there was narrowing of > 50% diameter in one or more major coronary artery. Morphometric vertebral fracture was assessed using lateral thoracic and lumbar spine radiographs. Bone mineral density was performed using dual-energy x-ray absorptiometry. RESULTS: Of the 400 subjects in the study (mean age of 61.9 +/- 11.6 years), 256 patients had CAD. Vertebral fracture was observed in 94 (23.5%) patients. There was no difference in vertebral fracture according to the presence or absence of CAD. In logistic regression analysis, vertebral fracture was not significantly associated with CAD after adjustment for multiple risk factors. Although women had lower BMD at any given site than men, BMD was not associated with the presence or absence of CAD among 191 patients. CONCLUSION: Our study demonstrated that osteoporotic vertebral fracture or osteoporosis was not associated with coronary artery disease in Korean men and women.
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Idoso , Feminino , Humanos , Masculino , Aterosclerose , Densidade Óssea , Angiografia Coronária , Doença da Artéria Coronariana , Vasos Coronários , Modelos Logísticos , Osteoporose , Fatores de Risco , Coluna VertebralRESUMO
PURPOSE: The aim of this study was to identify the most precise and clinically practicable parameters that predict future oral hypoglycemic agent (OHA) failure in patients with type 2 diabetes, and to determine whether these parameters are valuable in various subgroups. MATERIALS AND METHODS: We took fasting blood samples from 231 patients for laboratory data and standard breakfast tests for evaluation of pancreatic beta-cell function. Hemoglobin A1c (HbA1c) levels were tested, and we collected data related to hypoglycemic medications one year from the start date of the study. RESULTS: Fasting C-peptide, postprandial insulin and C-peptide, the difference between fasting and postprandial insulin, fasting beta-cell responsiveness (M0), postprandial beta-cell responsiveness (M1), and homeostasis model assessment-beta (HOMA-B) levels were significantly higher in those with OHA response than in those with OHA failure. The area under the curve (AUC) of the receiver operating characteristic (ROC) measured with postprandial C-peptide to predict future OHA failure was 0.720, and the predictive power for future OHA failure was the highest of the variable parameters. Fasting and postprandial C-peptide, M0, and M1 levels were the only differences between those with OHA response and those with OHA failure among diabetic subjects with low body mass index, high blood glucose level, or long-standing diabetes. CONCLUSION: In conclusion, postprandial C-peptide was most useful in predicting future OHA failure in type 2 diabetic subjects. However, these parameters measuring beta-cell function are only valuable in diabetic subjects with low body mass index, high blood glucose level, or long-standing diabetes.
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Adolescente , Idoso , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Administração Oral , Glicemia/análise , Índice de Massa Corporal , Peptídeo C/sangue , Diabetes Mellitus Tipo 2/sangue , Jejum/sangue , Hipoglicemiantes/administração & dosagem , Insulina/sangue , Células Secretoras de Insulina/metabolismo , Período Pós-PrandialRESUMO
Fecal examinations using the Kato Katz technique were performed on a total of 1,287 villagers (945 students and 342 general inhabitants) of Oddar Meanchey Province, Cambodia in May 2007 and November 2009. The overall intestinal helminth egg positive rate was 23.9%, and the most prevalent helminth species was hookworms (21.6%). Other helminth eggs detected included echinostomes (1.0%), Enterobius vermicularis (0.8%), small trematode eggs (0.7%), which may include Opisthorchis viverrini and Haplorchis spp., and Hymenolepis nana (0.4%). In order to recover adult echinostomes, we treated 2 patients with 10-15 mg/kg praziquantel and purged. Total 14 adult echinostomes, 1 and 13 worms from each patient, were collected. The echinostomes characteristically had 49-51 collar spines and 2 round or slightly lobated testes. They were identified as Echinostoma ilocanum (Garrison, 1908) Odhner, 1911. So far as literature are concerned, this is the first record on the discovery of human E. ilocanum infection in Cambodia.
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Adolescente , Adulto , Animais , Criança , Feminino , Humanos , Masculino , Adulto Jovem , Anti-Helmínticos/administração & dosagem , Camboja/epidemiologia , Fezes/parasitologia , Helmintíase/epidemiologia , Helmintos/classificação , Praziquantel/administração & dosagem , Prevalência , População RuralRESUMO
PURPOSE: To evaluate the results of arthroscopic resection of volar ganglion of the wrist. MATERIALS AND METHODS: Nine patients who had arthroscopic resection of volar ganglion of wrist were evaluated. Using 3-4 poral as a viewing portal, volar ganglion was debrided through the radioscaphocapitate (RSC) ligament and long radiolunate (LRL) ligament using a resector inserted from the 1-2 or 4-5 portal. We evaluated the incidence of relapse, the time to postoperative disappearance of pain, surgical complications, and intra-articular derangements. RESULTS: Eight patients had synovitis around radial styloid process. Three patients had capsular tear between RSC ligament and LRL ligament. There was no relapse at an average follow-up of 15 months. The pain felt during daily activities subsided at 2.5 months after operation in 9 patients. One patient had partial injury of the median nerve causing persistent paresthesia. All were satisfied for the postoperative scars. CONCLUSION: Arthroscopic resection is a reliable option with good cosmetic results for the treatment of volar ganglion of the wrist.
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Humanos , Cicatriz , Cosméticos , Seguimentos , Cistos Glanglionares , Incidência , Ligamentos , Nervo Mediano , Parestesia , Recidiva , Sinovite , Punho , Articulação do PunhoRESUMO
In this study, we investigated that anti-inflammatory effect of quercetin on picryl chloride(PCL)-induced contact dermatitis in BALB/c Mice. Experimental animals were divided into three groups and comprising five animals. All groups of oral administration was begun on the first day of PCL treatment and ceased on day 5. For the induction of contact dermatitis, BALB/c mice were sensitized with 40 microliter of 1.5% picryl choloride (PCL) to the left and right ear, respectively. Ear swelling responses were much weaker in high-dose group (100 mg/kg) than control group (0 mg/kg). Total serum IgE levels and histamine levels were measured by sandwich ELISA method using mouse IgE, histamine measuring Kit. Both total serum IgE and histamine levels were significantly decreased in high-dose group (100 mg/kg) than other groups. Degranulation of mast cells were also confirmed by Toluidine Blue (TB) staining method. In high-dose group (100 mg/kg), the number of mast cells were significantly decreased and there are many mast cells were shown degranulation in control group (0 mg/kg). All of these results demonstrate that the pharmacological actions of quercetin indicate their potential activity for allergic inflammatory diseases through the down-regulation of mast cell activation.
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Animais , Camundongos , Administração Oral , Dermatite de Contato , Regulação para Baixo , Orelha , Ensaio de Imunoadsorção Enzimática , Histamina , Imunoglobulina E , Mastócitos , Cloreto de Picrila , Quercetina , Cloreto de TolônioRESUMO
PURPOSE: To evaluate the surgical results of distal radioulnar fractures managed by open reduction and internal fixation for the fractures of the distal radius and excision of the fractured fragments and ECU tenodesis for the comminuted fractures of ulnar head and neck. METHODS: Six cases of combined fractures of the distal radius and ulna were enrolled. Distal radius fractures were fixed by ORIF with AO locking plate without bone graft. The comminuted fragments of distal ulnar head and neck were excised and the tenodesis using half strip of ECU was added to stabilize the proximal ulnar stumps. After immobilization for 6 weeks, active ROM exercise started. The change of radial inclination and volar tilt, the ulnar shift and collapse of carpal bone and ulnar impingement were investigated with simple X-ray. Patients were assessed with residual subjective symptoms and modified Mayo wrist score (MMWS). All were female and average age was 68(58~75) years. Average follow up was 23(10~50) months. RESULTS: Resting pain was absent in all patients but heavy lift made them feel weakness and discomfort intermittently. All patients returned to the normal daily activities except one patient handicapped by hemiplegia. The average range of motion and grip power was 89% and 85% compared to the contralateral side respectively. The average MMWS was 87(75~95). The postoperative loss of the reduction of the distal radius was not observed in follow up X-ray. CONCLUSION: ORIF of distal radius fractures associated with the excision of the distal ulnar fragments and stabilization procedure using half strip of ECU may be one good method for the treatment of the fractures of the distal radius combined with the comminuted distal ulnar fractures difficult to be managed by ORIF. The intermittent weakness felt in this method made it not suitable in young active patient doing heavy work. AO locking plate was strong enough to maintain reduction until bone union.
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Feminino , Humanos , Ossos do Carpo , Pessoas com Deficiência , Seguimentos , Fraturas Cominutivas , Força da Mão , Cabeça , Hemiplegia , Imobilização , Pescoço , Rádio (Anatomia) , Fraturas do Rádio , Amplitude de Movimento Articular , Tenodese , Transplantes , Ulna , PunhoRESUMO
OBJECTIVE: To determine optimal stimulation site for median motor conduction study, we compared fixed distance (7 cm proximal to the recording electrode) stimulation method and distal wrist crease stimulation method. METHOD: Nerve conduction studies were performed in 65 hands of 36 healthy adults without neurologic abnormality. Median motor responses were recorded from abductor pollicis brevis (APB) with the stimulations at the point 7 cm proximal to the recording electrode and at the distal wrist crease. The distal latencies and onset-to-peak amplitudes were measured and compared between two techniques. The distal latencies were also compared to that of ulnar compound muscle action potential (CMAP) obtained with fixed distance stimulation (7 cm proximal to the recording electrode). And we measured median nerve actual length from distal wrist crease to APB muscle motor point by anatomic dissection of 12 hands. RESULTS: The distal latencies of median CMAP to APB with 7 cm fixed distance stimulation and distal wrist crease stimulation were 2.91+/-0.37 ms and, 2.75+/-0.41 ms respectively. The differences were statistically significant. The distal latency of ulnar CMAP was 2.50+/-0.32 ms. Differences in distal latencies between ulnar CMAPs and not only 7 cm fixed distance median stimulation but also distal wrist crease median stimulation were also statistically significant. The mean length of median nerve from distal wrist crease to APB motor point was 5.91+/-0.77 cm. CONCLUSION: We suggest that the median motor nerve conduction study using distal wrist crease stimulation was an easier and more rapid procedure than fixed distance median motor nerve conduction study.
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Adulto , Humanos , Potenciais de Ação , Eletrodos , Mãos , Nervo Mediano , Músculos , Condução Nervosa , PunhoRESUMO
OBJECTIVE: The history of gestational diabetes (GDM) is a high risk for the development of type 2 diabetes mellitus (T2DM). The purpose of this study is to investigate the genetic association of LEP and LEPR gene polymorphisms and the development of T2DM in Korean women of history of GDM. METHODS: Women diagnosed as GDM during pregnancy from January 1992 to December 2002 were recruited. Those women with a T2DM at the time of study were classified as T2DM positive group, and without T2DM, as T2DM negative group. 2 genes (LEP and LEPR genes) and 8 SNPs (LEP-632G>A, +4950G>A, +4998A>C, and LEPR-141013T>C, -186A>G, +5193G>A, +7187A>C, +27265A>G) were selected. The TaqMan assay for genotyping and the statistical analysis for phenotypic and genetic factors between 2 groups were analyzed. RESULTS: A total of 54 women, T2DM positive (n=20) and T2DM negative (n=34) were enrolled. At the time of diagnosis of GDM, HbA1c, 50 g and 100 g oral glucose tolerance test, and insulin level were significantly associated between T2DM positive and negative groups (P<.05). In analysis of genetic risk to T2DM, the significant association related with any SNPs was not shown between T2DM positive and negative groups. CONCLUSION: In Korean women having past history of GDM, there was no relationship between 2 genes and the development to T2DM. To clarify a effect of candidate genes related with development of T2DM, there will need more samples and genes.
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Feminino , Humanos , Gravidez , Diabetes Mellitus Tipo 2 , Diabetes Gestacional , Teste de Tolerância a Glucose , Insulina , Polimorfismo de Nucleotídeo ÚnicoRESUMO
To examine the infection status of freshwater fish with Gnathostoma spp. larvae in Myanmar, we purchased 15 snakeheads, Channa striatus, from a local market in a suburban area of Naypyidaw, the new capital city. Two larval gnathostomes were collected using an artificial digestion technique, and observed by a light microscope and a scanning electron microscope. The size of an intact larva was 2.65 mm long and 0.32 mm wide. The characteristic morphology of the larvae included the presence of a long esophagus (0.80 mm long), 2 pairs of cervical sacs (0.43 mm long), and a characteristic head bulb with 4 rows of hooklets. The number of hooklets in the 1st, 2nd, 3rd, and 4th row was 45, 48, 50, and 52, respectively. Based on these morphological characters, the larvae were identified as the advanced 3rd-stage larvae of Gnathostoma spinigerum. This is the first report of detection of G. spinigerum 3rd-stage larvae in the central part of Myanmar. Our study suggests that intake of raw meat of snakehead fish in Myanmar may result in human gnathostomiasis.
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Animais , Doenças dos Peixes/parasitologia , Gnathostoma/isolamento & purificação , Larva/ultraestrutura , Mianmar , Perciformes/parasitologia , Infecções por Spirurida/parasitologiaRESUMO
BACKGROUND: The nutritional status of critical-ill patients is important for recovering from the disease itself. Therefore, this present study was designed to assess the biochemical and nutritional parameters of Intensive-Care Unit (ICU) patients on mechanical ventilation. METHODS: We retrospectively reviewed the medicial records of 126 patients (male/female=72/54) who were on mechanical ventilationin the ICU. The nutritional parameters such as serum total protein, albumin, hemoglobin, hematocrit, calcium, phosphorus, total cholesterol, % lymphocytes, blood urea nitrogen (BUN), and creatinine (Cr) were measured at the beginning of mechanical ventilation. We also measured the outcome variables such as the duration of mechanical ventilation, the ICU length of stay and the hospitalization period. We analyzed the relationship between the nutritional parameters and the outcome variables of ICU patients on mechanical ventilation. RESULTS: The level of hemoglobin was negatively correlated with the outcome variables; the ICU length of stay (p<0.05), the hospitalized period (p<0.01), and the duration of mechanical ventilation (p<0.01). The creatinine level was positively correlated with the outcome variables; the ICU length of stay (p<0.01), the hospitalized period (p<0.01) and the duration of mechanical ventilation (p<0.05). On the multiple regression analysis, the serum total protein, albumin, calcium, inorganic phosphorus, BUN and creatinine were independent factors affecting the duration of mechanical ventilation. CONCLUSIONS: These findings indicate that ICU patients with mechanical ventilation have a risk for malnutrition and anemia. So, an adequate nutritional intervention is required for these patients in order to decrease the prevalence of malnutrition and anemia.
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Humanos , Anemia , Nitrogênio da Ureia Sanguínea , Cálcio , Colesterol , Creatinina , Hematócrito , Hospitalização , Tempo de Internação , Linfócitos , Desnutrição , Avaliação Nutricional , Estado Nutricional , Fósforo , Prevalência , Análise de Regressão , Respiração Artificial , Estudos RetrospectivosRESUMO
Multiple endocrine neoplasia type 1(MEN 1) is an autosomal dominantly inherited syndrome, characterized by the combined occurrence of tumors of the parathyroid glands, endocrine pancreas, and anterior pituitary gland. The MENIN gene, which is a kind of tumor suppressor gene, is located at the chromosomal locus 11q13. It consists of one untranslated exon and nine exons encoding the menin protein. We report a case of a 22-yearss-old woman with MEN type 1, who was proven to have a mutation in the MENIN gene. The patient was admitted because of repeated hypoglycemia. The fasting plasma glucose level was 32mg/dL. Seventy two hours fasting test showed an the insulin/glucose ratio as 0.33. Endoscopic ultrasonography detected multiple masses on the pancreas. The arterial -stimulated venous sampling(ASVS) with calcium showed sudden step up of insulin at the head and tail portions of the pancreas. The sellar MRI showed a pituitary mass that produced prolactin. Instead of a pathologic diagnosis from operational specimen, the genetic analysis revealed a mutation in the MENIN 1 gene(exon 2, 200~201insAGCCC).
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Feminino , Humanos , Masculino , Glicemia , Cálcio , Diagnóstico , Endossonografia , Éxons , Jejum , Genes Supressores de Tumor , Cabeça , Hiperparatireoidismo , Hipoglicemia , Insulina , Insulinoma , Ilhotas Pancreáticas , Imageamento por Ressonância Magnética , Neoplasia Endócrina Múltipla Tipo 1 , Neoplasia Endócrina Múltipla , Pâncreas , Glândulas Paratireoides , Adeno-Hipófise , Prolactina , ProlactinomaRESUMO
BACKGROUND: The aim of this study was to examine the association between the common polymorphisms of the adiponectin gene(ACDC) and the intima-media thickness(IMT) of the common carotid arteries in type 2 diabetic patients. METHODS: The B mode ultrasound examination of carotid artery was performed on 133 type 2 diabetic patients. The carotid IMT was calculated using the Intimascope computer program. The SNP45 and SNP276 of the ACDC were examined. RESULTS: There was no significant difference in the carotid IMT among the SNP45 genotypes(0.66+/-0.18mm for TT, 0.71+/-0.12mm for TG and 0.64+/-0.15mm for GG, P=NS). Subjects carrying the SNP276 GG genotype had a markedly lower serum adiponectin concentration than those carrying the TT genotype(3.35+/-2.00microgram/mL vs. 4.98+/-2.24microgram/mL, P=0.029) The carotid IMT was significantly higher in patients with the SNP276 GG genotype than those with the TT genotype (0.70+/-0.17mm vs. 0.59+/-0.13mm, P=0.032). Patients with the +45GG/+276GG genotype combination showed significantly higher mean carotid IMT than the other genotype combinations(0.78+/-0.09mm vs. 0.71+/-0.15mm, P=0.013) CONCLUSIONS: These results suggest that the adiponectin gene, SNP276 is associated with the carotid IMT in type 2 diabetic patients. Further studies are will be needed to confirm these genotypephenotype associations.