Clinical indicators which necessitate renal biopsy in type 2 diabetes mellitus patients with renal disease.

BACKGROUND: The diagnosis of diabetic nephropathy (DN) is always based on clinical grounds. However, the necessity for renal biopsy of type 2 diabetes mellitus (DM) patients with renal disease to establish the diagnosis remains unclear. METHODS: We retrospectively studied 50 type 2 diabetic patients performed with renal biopsy between December 2002 and December 2006. Based on renal pathology, patients were divided into group I: DN alone, group II: non-diabetic renal disease (NDRD) superimposed on DN and group III: isolated NDRD. Factors like DM > 10 years, retinopathy, previous minimal proteinuria without sudden heavy proteinuria, no glomerular haematuria and non-small-sized kidney were collected to evaluate their sensitivity, specificity, positive predictive value and negative predictive value for prediction of DN or NDRD in type 2 diabetic patients. RESULTS: Group I consisted of 24 patients, group II 15 patients and group III 11 patients. Acute interstitial nephritis was the most prevalent second renal disease in our study. Sensitivity and specificity for group I was poor in five features except high sensitivity in no sudden heavy proteinuria (83.3%) and non-small-sized kidney (95.8%). Comparable retinopathy, sudden heavy proteinuria and haematuria (p > 0.05) was noted between the three groups. Significant biopsy indicators included higher serum albumin, lower urinary daily protein excretion and lower 24-h creatinine clearance (C(Cr)) rate (p < 0.05). CONCLUSION: Our study demonstrated that DM > 10 years and retinopathy did not exclude NDRD in type 2 DM patients, and need for renal biopsy. Higher serum albumin, lower urinary daily protein and 24-h C(Cr) were indicative for biopsy to exclude NDRD.

Spectrum and prognostication of KIT and PDGFRA mutation in gastrointestinal stromal tumors.

AIMS: Recent studies reported various mutation rates in gastrointestinal stromal tumors (GISTs) and inconsistent prognostic value of mutation in GIST patients. Our purpose was to analyze the frequency and spectrum of KIT and PDFGRA in a large series study and to determine if the presence of mutation and mutation type serve as prognostic factors in GIST patients. METHODS: A total of 134 GISTs were subjected to mutation analysis of KIT (exons 9, 11, 13, and 17) and PDGFRA (exons 10, 12, 14, and 18). Clinicopathologic characteristics and survivals were correlated to KIT mutation. RESULTS: Approximately 69% of GISTs had KIT/PDGFRA mutation in Taiwanese GIST patients, with 99% of mutations occurred in KIT and 1% occurred in PDGFRA. Mutation rate was significantly increased in GISTs with mitotic counts >5 per 50 high power fields (chi(2) test, p=0.045). However, KIT mutations, regardless of the location (exons 9 versus 11) and type (missense, insertion, and deletion, including deletion specifically involving codons 557 and 558) of mutation, were not significantly associated with poor progression-free survivals. Comparing the overall survival in imatinib-treated patients, there was no significant difference between patients with exon 11 mutation and those with exon 9 mutation (p=0.473). CONCLUSIONS: GISTs were commonly associated with KIT mutation, but rarely associated with PDGFRA mutation in Taiwan. The presence of KIT mutation and mutation type was not significant prognostic factors in GIST patients without imatinib treatment, suggesting that there is no need to stratify GIST patients by mutation status in clinical trials of targeted therapy.

Prenatal diagnosis of Dandy-Walker malformation associated with distal limb deficiencies.

We report the perinatal findings of a 23 gestational-week fetus with Dandy-Walker malformation (DWM), ventriculomegaly, symmetrical transverse limb deficiencies, hypertelorism, frontal bossing, low-set ears, and a depressed nasal bridge. The karyotype was 46,XX. We believe that this combination is significant. Concomitant DWM and symmetrical distal limb deficiencies may represent a new entity that awaits more new cases for further delineation.

Prenatal diagnosis and genetic counseling of mucopolysaccharidosis type II (Hunter syndrome).

We present prenatal diagnosis of mucopolysaccharidosis type II (MPS II) (Hunter syndrome) and demonstrate marked mucopolysaccharide deposition in multiple vital organs in a 22-gestational-week affected fetus. Level II ultrasound showed cardiomegaly and hepatomegaly. Histological examinations of the fetal vital organs manifested marked mucopolysaccharide deposition. We suggest that any therapeutic approach and counseling for prenatally diagnosed MPS II should consider the early signs of in utero marked mucopolysaccharide storage.

Second-trimester diagnosis of limb-body wall complex with literature review of pathogenesis.

Three fetuses having limb-body wall complex (LBWC) with craniofacial defects and 9 fetuses having LBWC without craniofacial defects were diagnosed and delivered in the second trimester at Mackay Memorial Hospital during the period January 1990 - May 2006. Cases of LBWC with craniofacial defects showed severe anomalies of the upper limbs, craniofacial defects, constrictive amniotic bands and cranioplacental attachment, whereas, cases of LBWC without craniofacial defects presented major anomalies of the lower limbs, abnormal genitalia, anal atresia, renal defects, abdominoplacental attachment and umbilical cord abnormalities. The perinatal findings of LBWC with or without craniofacial defects were compared and the pathogenesis was discussed.

Debulking surgery for advanced thymoma.

AIMS: This study was conducted to evaluate the efficacy of debulking surgery in the treatment of locally advanced but operable malignant thymoma. METHODS: We reviewed 43 cases with incompletely resected stage III and IVa malignant thymoma managed between January 1987 and December 2002. RESULTS: Twenty-two had stage III and 21 had stage IVa disease. Maximal debulking was performed in 15 patients, nine with stage III and six with stage IVa disease. Nine patients also had myasthenia gravis (MG). Using univariate Kaplan-Meier analysis, we found that maximal debulking surgery, RT, and with the presence of MG were associated with better survival. Debulking resulted in a better outcome than non-debulking surgery (mean survival: 106 months vs 57.2 months). After adjustment with multivariate analysis, RT and MG were both associated with better survival. CT did not appear to be beneficial for advanced thymoma. CONCLUSIONS: RT is independently associated with a better outcome in locally advanced thymoma. Debulking surgery apparently allows for a better response to RT.

Recurrent retroperitoneal myxoid liposarcoma during pregnancy: a case report and literature review.

Retroperitoneal liposarcoma in pregnancy is rare, and only a few cases of primary liposarcoma during pregnancy have been reported. To the best of our knowledge, there is no published report of retroperitoneal liposarcoma that was previously treated and recurred during pregnancy. Our patient was diagnosed with a pelvic mass on ultrasound at 12-weeks' gestation. The mass was found to be a retroperitonal, well-differentiated myxoid liposarcoma and was radically excised at the time of cesarean delivery at 36-weeks' gestation. However, the tumor recurred soon and progressed rapidly, and the patient eventually died of the disease. A thorough sonographic investigation and timing of surgery may be critical in terms of finding a surgically resectable lesion and leading to a more favorable prognosis.

Intrahepatic cholestasis as a paraneoplastic syndrome associated with pheochromocytoma.

Pheochromocytoma is a rare tumor of chromaffin cells that secrete catecholamines and several cytokines. The clinical manifestations are protean and may include hypertension, weight loss, sweating, palpitation, headache, anxiety, tremor, nausea, vomiting, and hypercalcemia. The tumor can mimic many unrelated diseases, leading to significant delay and difficulty in diagnosis. We report a case of a 37-yr-old male admitted with jaundice, dark urine, fever, and signs of a systemic inflammatory response. Abdominal computed tomography revealed a heterogeneously enhancing tumor between the pancreatic tail and left kidney. There was no evidence of obstruction to bile flow, neoplastic involvement of the liver or bile ducts, or infectious etiology. The tumor was removed and found to be a pheochromocytoma. Immunohistochemical analysis revealed the presence of interleukin-1beta in the tumor cells. After surgery, the jaundice resolved without further treatment, leading us to the conclusion that it was a paraneoplastic phenomenon possibly related to interleukin-1beta production. We suggest that occult pheochromocytoma should be added to the differential diagnosis of unexplained intrahepatic cholestasis.

A comparison of maternal age, sex ratio and associated anomalies among numerically aneuploid, structurally aneuploid and euploid holoprosencephaly.

During the period January 1987-July 2003, 59 cases of perinatally detected holoprosencephaly (HPE) with cytogenetic results were identified among 97,306 deliveries at Mackay Memorial Hospital. Among these 59 cases with HPE, 25 had euploidy, 27 had numerical aneuploidy, and 7 had structural aneuploidy. In the euploid cases, the male:female sex ratio was 0.39:1, whereas in the aneuploid cases, the ratio was 1:1. The mean (+/-SD) maternal ages for numerical aneuploidy, structural aneuploidy, and euploidy were 33.0 +/- 5.1 years, 27.9 +/- 2.1 years, and 27.8 +/- 5.0 years, respectively. The frequencies of associated major structural anomalies other than craniofacial defects in the cases with numerical aneuploidy, structural aneuploidy, and euploidy were 85.7%, 0%, and 16%, respectively. The present study of HPE suggests that a female excess appears only in the euploid cases, and advanced maternal age and structural anomalies are more commonly associated with the numerically aneuploid cases than the structurally aneuploid and euploid cases.

Idiopathic inflammatory myopathy with diffuse alveolar damage.

Interstitial lung disease (ILD) in patients with myositis is defined by the presence of interstitial changes on radiographic examination. The reported prevalence of ILD varies from 0% to nearly 50%. However, only rarely has the pathological pattern of diffuse alveolar damage (DAD) associated with idiopathic inflammatory myopathy (IIM) been reported. We report five patients with IIM (one with dermatomyositis, one with polymyositis, and three with amyopathic dermatomyositis) and respiratory failure. Four underwent open lung biopsy with pathological proof of diffuse alveolar damage (DAD). Despite intensive immunosuppressive therapy, all of them died. In addition to the case reports, we discuss DAD in patients with IIM.