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排序方式: 共有744条查询结果,搜索用时 46 毫秒
1.
Sema Aydodu Ipek Akil Talha Akil Caner Kabasakal Refik Killi Sevgi Mir Rait Yaci 《Pediatrics international》2004,46(1):67-71
BACKGROUND: The aim of the present study was to investigate renal vascular resistive changes in children with different stages of liver cirrhosis without obvious renal failure. METHODS: Twenty-nine children (14 girls, 15 boys, mean age 11.6 years) with cirrhosis and 20 healthy children (mean age 10.3 years) were investigated for renal vascular resistance with Doppler ultrasonography, urinary sodium, N-acetyl-beta-D glucosaminidase (NAG) and microalbuminuria excretion. RESULTS: The measurements of renal resistive indexes (RRI) were significantly higher in cirrhotic patients than the control group (0.69 +/- 0.07 vs 0.62 +/- 0.02, P < 0.0001). RRI measurement was found to be increased in decompensated cirrhotic patients than in compensated cirrhotic patients (0.73 +/- 0.05 vs 0.67 +/- 0.08, P < 0.0001). A significant positive relationship was observed between RRI and child score (r = 0.53). Urine NAG/Cr ratio was significantly higher in cirrhotic patients than in the control subjects (P < 0.001). Microalbumin concentrations were increased in the patients with decompensated cirrhosis than in the controls (P = 0.02). Patients with ascites and portal hypertension showed increased RRI values. CONCLUSIONS: We conclude that patients with cirrhosis are at risk of renal deterioration, which can not be detected by serum urea, creatinine, and glomerular filtration rate. The increase of RRI is associated with the progress of hepatocellular disease, and also the development of ascites and portal hypertension. Elevated urinary sodium excretion, elevated urinary NAG/Cr ratio and microalbuminuria might have a prognostic value especially in patients with Child scores> 6. Hence, monitoring RRI is a non-invasive means of studying early renal hemodynamic alteration in childhood cirrhosis. 相似文献
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Ayca Kocaaga Sevgi Yimenicioglu Haluk Hüseyin Gürsoy 《Indian journal of ophthalmology》2022,70(7):2762
Bosch–Boonstra–Schaaf optic atrophy syndrome (BBSOAS) is an extremely rare autosomal dominant disorder characterized by intellectual disability, developmental delay, seizures, hypotonia, hearing loss, and optic nerve atrophy. This syndrome is caused by loss-of-function variants in the nuclear receptor subfamily 2 group F member 1 (NR2F1) gene. To date, approximately 80 patients have been reported with BBSOAS. Here, we describe a 3-year-old infant with delayed development, intellectual disability, strabismus, nystagmus, and optic atrophy with well-characterized features associated with BBSOAS. Whole-exome sequencing revealed a novel heterozygous missense mutation (:c.437G>A, p.Cys146Tyr) in the NR2F1 gene. This missense variant is predicted to be deleterious by the protein prediction tools (SIFT, PolyPhen-2, and MutationTaster). To the best of our knowledge, this is the first patient with BBSOAS reported from Turkey. NM_005654.6相似文献
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Elif Ozalkaya Sevgi Mir Betul Sozeri Afig Berdeli Fatma Mutlubas Alphan Cura 《Rheumatology international》2011,31(6):779-784
Familial Mediterranean fever (FMF) is a disease characterized by recurrent, self-limiting fever and serositis and caused by
altered pyrin due to mutated MEFV gene. The aim of this study was to investigate clinical manifestations and MEFV mutations
among patients with FMF and healthy controls in the Aegean region of Turkey. This study included 308 patients and 164 healthy
controls. Patients were divided into three groups according to Tel-Hashomer criteria; definitive, probable, and suspicious.
Among the patients, 146 were women (47.4%) and 162 were men (52.6%). The mean age (±SD) of the patients at the diagnosis was
9.6 ± 3.95 (range 0.5–18). The mean age (±SD) at onset of the symptom was 6.2 ± 3.95 (range 1–18). Symptoms were seen earlier
onset in definitive group than the suspicious group in our cohort (4.7 ± 3.9 years, 6.6 ± 3.9 years, respectively; P = 0.001). Clinical features were abdominal pain (83.1%), fever (55%), arthritis (17.1%), myalgia (4.5%), pleuritis (10%),
and erysipelas—like erythema (7.7%). Fever, arthralgia, arthritis, chest pain, and amyloidosis were found statistically significant
more in definitive group than suspicious group (P < 0.001, P < 0.001, P < 0.001, P < 0.05, and P < 0.001, respectively). MEFV gene mutations were identified in 199 patients (64.6%). The most commonly encountered MEFV mutation
among the patients was M694V homozygote (25%). M694V homozygous mutation was found most frequently in definitive FMF group
than other groups (49, 9, 8.9%, respectively). To our knowledge that FMF should be suspected in the case of non-specific but
recurrent attacks of serositis and high fever, and molecular analysis should be performed in order to make diagnosis of FMF. 相似文献
6.
Long‐term analysis of phase II studies of single‐agent lenalidomide in relapsed/refractory mantle cell lymphoma
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Thomas E. Witzig Pier Luigi Zinzani Thomas M. Habermann Joseph M. Tuscano Johannes Drach Radhakrishnan Ramchandren Sevgi Kalayoglu Besisik Kenichi Takeshita Marie‐Laure Casadebaig Bravo Lei Zhang Tommy Fu Andre Goy 《American journal of hematology》2017,92(10):E575-E583
Mantle cell lymphoma (MCL) is a type of non‐Hodgkin lymphoma (NHL) with aggressive disease characteristics resulting in multiple relapses after initial treatment. Lenalidomide is an immunomodulatory agent approved in the US for patients with relapsed/refractory MCL following bortezomib based on results from 3 multicenter phase II studies (2 including relapsed/refractory aggressive NHL and 1 focusing on MCL post‐bortezomib). The purpose of this report is to provide longer follow‐up on the MCL‐001 study (follow‐ups were 6.8 [NHL‐002], 7.6 [NHL‐003], and 52.2 [MCL‐001] months). The 206 relapsed MCL patients treated with single‐agent lenalidomide (25 mg/day PO, days 1 to 21 every 28‐days) had a median age of 67 years (63% ≥65 years), 91% with stage III/IV disease, and 50% with ≥4 previous treatment regimens. With a median follow‐up of X, the combined best overall response rate (ORR) was 33% (including 11% with complete remission [CR]/CR unconfirmed CRu). Lenalidomide produced rapid and durable responses with a median time to response of 2.2 months and median duration of response (DOR) of 16.6 months (95% CI: 11.1%‐29.8%). The safety profile was consistent and manageable; myelosuppression was the most common adverse event (AE). Overall, single‐agent lenalidomide showed consistent efficacy and safety in multiple phase II studies of heavily pretreated patients with relapsed/refractory MCL, including those previously treated with bortezomib. 相似文献
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We report a case of a 44-year-old woman who had coexisting distinct and separate primary tumors of the bladder: a leiomyosarcoma and a transitional cell carcinoma (urothelial cancer). The patient presented with macroscopic hematuria. A computed tomography scan of the pelvis showed a bladder mass along the left anterolateral wall. A transurethral resection of the bladder was performed. A pathological examination revealed that the mass was leiomyosarcoma. The patient underwent radical cystectomy with ileal conduit diversion. The urinary cystectomy specimen revealed an 11 cm x 6 cm x 5 cm solid mass on the left anterolateral wall and two 1-cm papillary tumors with different localization on the right and left lateral walls of the urinary bladder. Pathological examination revealed that the masses were high-grade leiomyosarcoma and urothelial cancer. Because of the differences in the histogenesis and prognosis, such cases should be differentiated from cases of carcinosarcoma of the urinary bladder. Synchronous occurrence of urothelial cancer and sarcoma as two separate primary tumors in the bladder is very rare. To our knowledge, seven cases of coexisting sarcoma and transitional cell carcinoma of the urinary bladder have been reported in the literature. 相似文献
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Suleyman Cuneyt Karakus Sevgi Buyukbese Sarsu Coskun Celtk Selim Gokce Naim Koku 《Pediatrics international》2015,57(2):304-307
Gastrointestinal hemorrhage in children is a critical condition that demands quick and effective management. The differential diagnosis of gastrointestinal hemorrhage is wide. Heterotopic pancreas is a rare congenital anomaly and usually discovered incidentally. It is generally asymptomatic, but symptoms may occur when complicated by inflammation, bleeding, obstruction or malign transformation. Heterotopic pancreas may present throughout the gastrointestinal tract, but it is most commonly found in the stomach, duodenum and proximal jejunum. Juvenile polyps are common during childhood and present most often with painless rectal hemorrhage. They remain the most common colonic polyps in children. Colonoscopic polypectomy is the most effective procedure in the treatment of juvenile polyps. In this study, we describe rare causes of gastrointestinal system hemorrhage in infancy and discuss some diagnostic and therapeutic approaches. 相似文献