OBJECTIVETo explore the clinical and pathological features and the diagnosis of childhood Alport syndrome (AS).

METHODSA retrospective analysis was performed on clinical data of 91 children with AS.

RESULTSHematuria was observed in all 91 patients, of whom 86 were accompanied with proteinuria. Sixty-one children with X-Linked AS (XL-AS) had positive family history. Renal biopsy was performed on 82 children. Mild to moderate mesangial proliferation was observed in 74 cases. Small amounts of immune complexes deposits in the glomerular mesangial area were observed in 48 cases. Glomerular basement membrane (GBM) attenuation, thickening and layering were observed in 53 cases by electron microscopy (EM). In 63 cases receiving renal tissue type IV collagen α3 and α5 chain immunofluorescence detection, 58 were diagnosed with AS, including 53 cases of XL-AS and 5 cases of autosomal recessive AS. In 91 cases of AS, 58 were diagnosed as AS by renal tissue type IV collagen α3 and α5 chain immunofluorescence, 21 were diagnosed by EM, one was diagnosed by skin biopsy, and 12 were diagnosed by gene detection. Six novel mutations of COL4A5 gene were found. Forty-five cases were misdiagnosed before the diagnosis of AS. Forty-one of the 45 cases received steroids and/or immunosuppressant therapy.

CONCLUSIONSThe clinical manifestations and pathological changes are not specific in children with AS, resulting in a higher rate of misdiagnosis. Typical lesions of GBM under EM are only observed in a part of patients. There is a high novel mutation rate of COL4A5 in the detected AS children.

Child ; Child, Preschool ; Collagen Type IV ; genetics ; Diagnostic Errors ; Female ; Glomerular Basement Membrane ; pathology ; Humans ; Male ; Nephritis, Hereditary ; diagnosis ; genetics ; pathology ; Retrospective Studies

Nasopharyngeal adenoid cystic carcinoma (NACC) is a rare malignancy with high local invasiveness. To date, there is no consensus on the imaging characteristics of NACC. To address this, we retrospectively reviewed 10 cases of NACC and summarized the magnetic resonance imaging (MRI) features. MR images of 10 patients with histologically validated NACC were reviewed by two experienced radiologists. The location, shape, margin, signal intensity, lesion texture, contrast enhancement patterns, local invasion, and cervical lymphadenopathy of all tumors were evaluated. Clinical and pathologic records were also reviewed. No patients were positive for antibodies against Epstein-Barr virus (EBV). The imaging patterns of primary tumors were classified into two types as determined by location, shape, and margin. Of all patients, 7 had tumors with a type 1 imaging pattern and 3 had tumors with a type 2 imaging pattern. The 4 tubular NACCs were all homogeneous tumors, whereas 3 (60%) of 5 cribriform NACCs and the sole solid NACC were heterogeneous tumors with separations or central necrosis on MR images. Five patients had perineural infiltration and intracranial involvement, and only 2 had cervical lymphadenopathy. Based on these results, we conclude that NACC is a local, aggressive neoplasm that is often negative for EBV infection and associated with a low incidence of cervical lymphadenopathy. Furthermore, MRI features of NACC vary in locations and histological subtypes.
Adult ; Aged ; Carcinoma, Adenoid Cystic ; diagnosis ; pathology ; surgery ; Female ; Humans ; Lymphatic Metastasis ; Magnetic Resonance Imaging ; methods ; Male ; Middle Aged ; Nasopharyngeal Neoplasms ; diagnosis ; pathology ; surgery ; Neoplasm Invasiveness ; Neoplasm Staging ; Retrospective Studies

Objective: To investigate the long-term outcomes and risk factors in children with steroid-sensitive nephrotic syndrome (SSNS). Methods: A retrospective cohort study was conducted on newly onset SSNS admitted to the Department of Pediatrics of the First Affiliated Hospital of Sun Yat-sen University from January 2006 to December 2010 and 105 cases with follow-up for more than 10 years were included. Clinical data including general characteristics, clinical manifestation, laboratory tests, treatment and prognosis. The primary outcome was the clinical cure, and the secondary outcomes were relapse or ongoing immunosuppressive treatment within the last 1 year of follow-up and complications at the last follow-up. According to the primary outcome, the patients were divided into clinical cured group and uncured group. Categorical variables were compared between 2 groups using the χ² or Fisher exact test, and continuous variables by t or Mann-Whitney U test. Multiple Logistic regression models were used for multivariate analysis. Results: Of the 105 children with SSNS, the age of onset was 3.0 (2.1, 5.0) years, and 82 (78.1%) were boys, 23(21.9%) were girls. The follow-up time was (13.1±1.4) years; 38 patients (36.2%) had frequently relapsing or steroid-dependent nephrotic syndrome (FRNS or SDNS) and no death or progression to end-stage kidney disease. Eighty-eight patients (83.8%) were clinically cured. Seventeen patients (16.2%) did not reach the clinical cure criteria, and 14 patients (13.3%) had relapsed or ongoing immunosuppressive treatment within the last year of follow-up. The proportion of FRNS or SDNS (12/17 vs. 29.5% (26/88), χ²=10.39), the proportion of treatment with second-line immunosuppressive therapy (13/17 vs. 18.2% (16/88), χ²=21.39), and the level of apolipoprotein A1 at onset ((2.0±0.5) vs. (1.7±0.6) g/L, t=2.02) in the uncured group were higher than those in the clinical cured group (all P<0.05). Multivariate Logistic regression analysis showed that patients treated with immunosuppressive therapy had an increased risk of not reaching clinical cure in the long term (OR=14.63, 95%CI 4.21-50.78, P<0.001). Of the 55 clinically cured patients who had relapsed, 48 patients (87.3%) did not relapse after 12 years of age. The age at last follow-up was 16.4 (14.6, 18.9) years, and 34 patients (32.4%) were ≥18 years of age. Among the 34 patients who had reached adulthood, 5 patients (14.7%) still relapsed or ongoing immunosuppressive treatment within the last year of follow-up. At the last follow-up, among the 105 patients, 13 still had long-term complications, and 8 patients were FRNS or SDNS. The proportion of FRNS or SDNS patients with short stature, obesity, cataracts, and osteoporotic bone fracture was 10.5% (4/38), 7.9% (3/38), 5.3% (2/38), and 2.6% (1/38), respectively. Conclusions: The majority of SSNS children were clinically cured, indicating a favorable long-term prognosis. History of treatment with second-line immunosuppressive therapy was the independent risk factor for patients not reaching the clinical cure criteria in the long term. While it is not uncommon for children with SSNS to persist into adulthood. The prevention and control of long-term complications of FRNS or SDNS patients should be strengthened.
Male ; Female ; Humans ; Child ; Nephrotic Syndrome/drug therapy* ; Retrospective Studies ; Hospitalization ; Hospitals ; Immunosuppressive Agents/therapeutic use*

OBJECTIVETo probe blood serum Ab-IgG characteristics of severe acute respiratory syndrome (SARS) patients in Guangzhou and investigate the related factors.

METHODSThe serum of such population diagnosed as SARS convalescent patients, non-SARS patients, family consanguineous contraction persons, wild animal and vegetable salesman and community common people was collected. The lab detective method of ELISA was adopted for these serum samples. And the epidemic investigations for the SARS patients were also carried out.

RESULTSOf these populations, the detective rate of Ab-IgG for the clinic diagnosed SARS patients, which was 53.7%; That for the wild animal salesman and community common people were 16.7% and 0.9%, respectively. Among the clinic diagnosed SARS patients, the positive antibody detective rate was 90.4% for those which had specific contact history or infectivity, which was higher than that for other population. Among the specific contact history or infectivity cases, the antibody positive rate for the young and the old was lower than that for the adult. Meanwhile the difference did not exist among other cases. The antibody positive rate was identical between the male and the female. And the antibody detective rate was decreased by the month.

CONCLUSIONAs a whole SARS-CoV Ab-IgG detective rate for the clinic diagnosed SARS patients was 53.7% only. The reasons for that mainly lie in the wrong clinic diagnosis besides these factors such as age, hormone use and reagent and so on. The combination of lab detection results and epidemic investigation was propitious to the diagnosis veracity. It was impossible for the sub-clinic infection of SARS-CoV virus. The importance in the virus transmitting course need to be further studied.

Adult ; Antibodies, Viral ; blood ; Child ; China ; epidemiology ; Female ; Humans ; Immunoglobulin G ; blood ; Male ; Middle Aged ; SARS Virus ; immunology ; Seroepidemiologic Studies ; Severe Acute Respiratory Syndrome ; epidemiology ; immunology

Intraportal transplantation of islets is no longer considered to be an ideal procedure and finding the extrahepatic alternative site is becoming a subject of high priority. Herein, in this study, we would introduce our initial outcomes of using gastric submucosa (GS) and liver as sites of islet autotransplantation in pancreatectomized diabetic Beagles. Total pancreatectomy was performed in Beagles and then their own islets extracted from the excised pancreas were transplanted into GS (GS group, n=8) or intrahepatic via portal vein (PV group, n=5). Forty-eight hours post transplantation, graft containing tissue harvested from the recipients revealed the presence of insulin-positive cells. All recipients in GS group achieved euglycemia within 1 day, but returned to a diabetic state at 6 to 8 days post-transplantation (mean survival time, 7.16±0.69 days). However, all of the animals kept normoglycemic until 85 to 155 days post-transplantation in PV group (mean survival time, 120±28.58 days; P<0.01 vs. GS group). The results of intravenous glucose tolerance test (IVGTT) confirmed that the marked improvement in glycometabolism was obtained in intrahepatic islet autotransplantation. Thus, our findings indicate that the liver is still superior to the GS as the site of islet transplantation, at least in our islet autotransplant model in pancreatectomized diabetic Beagles.
Animals ; Diabetes Mellitus, Experimental ; metabolism ; pathology ; therapy ; Dogs ; Gastric Mucosa ; metabolism ; transplantation ; Glucose ; metabolism ; Glucose Tolerance Test ; Graft Survival ; Humans ; Insulin ; metabolism ; Islets of Langerhans Transplantation ; Liver ; pathology ; Liver Transplantation ; Transplantation, Autologous