The diagnostic value of glutamic acid decarboxylase antibody (GAD 65-Ab) was more valuable than islet cell antibody (ICA) in type 1 diabetes mellitus by receiver-operating characteristic (ROC) curves; likelihood ratios of different regions of GAD 65-Ab and ICA could reflect the probability of type 1 diabetes mellitus.

Objective To study the characteristics of ? cell function change and to explore the predictive value of glutamic acid decarboxylase (GAD)-Ab and other factors for ? cell function in the patients with latent autoimmune diabetes of adults (LADA). Methods Sixteen LADA patients (positive GAD-Ab) and 24 type 2 diabetic patients (negative GAD-Ab) were followed-up at 0, 6th, 12th, 30th, 36th, 42th and 48th months respectively. Their fasting and postprandial 2h C-peptide and glycemic control were measured. GAD-Ab was determined by radioimmunoprecipitation assay and C-peptide by RIA. Results Decreased fasting C peptide (FCP) levels (Month 30, 36, 42, 48 compared with Month 0, P

Objective To analyze histopathological and clinical features of dermatofibroma,and to explore the relationship between them.Methods Clinical and histopathological data were collected from 150 patients with histopathologically confirmed dermatofibroma in Department of Pathology,Shanghai Skin Disease Hospital from September 2017 to August 2018,and analyzed retrospectively.Results Among the 150 patients,65 were males,and 85 were females.Their age was 42 ± 13.8 years,and the course of disease ranged from 3 months to 30 years.Some of the patients had concomitant symptoms,mainly manifesting as itching,some had spontaneous pain and mild tenderness,and 18 patients had a history of injury,insect bite or infection at lesion sites.Skin lesions mainly occurred on the extremities (107 cases,71.3％),and most were solitary (105 cases,70％).Before pathological examinations,102 cases were clinically diagnosed as dermatofibroma,16 as epidermoid cyst,13 as pigmented nevus,3 as keloid,12 as skin mass,1 as malignant melanoma,1 as xanthogranuloma,1 as prurigo nodularis,and 1 as neurofibroma.Among 169 hematoxylin and eosin (HE)-stained sections,25 (14.8％) appeared to be consistent with aneurysmal dermatofibroma,66 (39.1％)with cellular dermatofibroma,36 (21.3％) with sclerosing dermatofibroma,and 22 (13.0％)with epithelioid dermatofibroma.Coexistence of two or more subtypes could be seen in 12 sections.There were also a few new variants,such as dermatofibroma with hyperplastic sweat duct (1 case),deep dermatofibroma (3 cases),dermatofibroma with epithelioid cells intermingled with hyperplastic collagen (1 case).The duration of aneurysmal dermatofibroma varied from 7 months to 30 years,and most manifested as skin masses on the lower extremities.A relatively short course of disease was observed in patients with cellular dermatofibroma,who often visited a hospital several months after the onset,and cellular dermatofibroma was commonly observed on the extremities and frequently accompanied with itching and pain.The duration of sclerosing or atrophic dermatofibroma was usually long for years or decades,and it commonly occurred on the upper limbs without concomitant symptoms.Epithelioid dermatofibroma of varied durations had various clinical manifestations,frequently occurred on the lower limbs without concomitant symptoms.Conclusions The clinical and pathological manifestations of dermatofibroma are diverse.Different dermatofibroma lesions can share similar typical histopathological manifestations,and atypical pathological features can interfere with the diagnosis of dermatofibroma.

Objective:To analyze clinical phenotypes and pathogenic mutations of a patient with classic tuberous sclerosis complex.Methods:Clinical data was collected from a patient with classic tuberous sclerosis complex. Next-generation sequencing was performed to screen pathogenic gene variants, and Sanger sequencing to verify the mutations. Minigene plasmids were constructed and transfected into the human renal epithelial cell line 293T, and RNA was extracted for transcriptional analysis.Results:The patient clinically presented with recurrent epileptic seizures, facial angiofibroma, periungual fibroma, pulmonary lymphangioleiomyomatosis, renal angiomyolipoma and multiple osteosclerosis. Next-generation sequencing revealed a suspected pathogenic variant in the TSC2 gene in the patient. Sanger sequencing identified a heterozygous mutation c.336_336+15delGGTAAGGCCCAGGGCG in exon 4 of the TSC2 gene in the patient, but not in his parents or 100 unrelated healthy controls. Moreover, this mutation had not been previously reported. The minigene experiment showed changed mRNA sequence of the TSC2 gene in this patient with loss of the authentic splice site in exon 4 and insertion of a 74-bp intron, which shifted the splice site 90 bp downstream (r.336delins336+16_336+90) .Conclusion:The novel heterozygous mutation c.336_336+15delGGTAAGGCCCAGGGCG in exon 4 of the TSC2 gene can lead to aberrant splicing, and may contribute to tuberous sclerosis complex in this patient.