Prevalence of Anti-endothelial Cell Antibodies in Patients with Pulmonary Arterial Hypertension Associated with Connective Tissue Diseases

Objective To investigate the prevalence of anti-endothelial cell antibodies (AECAs) in the sera of connective tissue diseases (CTD) patients with pulmonary arterial hypertension (PAH) and its correlation with clinical manifestations. Methods AECAs in sera of 39 CTD patients with PAH,22 CTD patients without PAH,and 10 healthy donors as controls were detected with Western blotting. The prevalence of different AECAs in different groups was compared and its correlation with clinical manifestations was also investigated. Results The prevalence of AECAs was 82.1% in CTD patients with PAH,72.7% in CTD patients without PAH,and 20.0% in healthy donors. Anti-22 kD AECA was only detected in CTD patients with PAH (15.4%). Anti-75 kD AECA was more frequently detected in CTD patients with PAH than in those without PAH (51.3% vs. 22.7%,P<0.05). In CTD patients with PAH,anti-75 kD AECA was more frequently detected in those with Raynaud’s phenomenon or with positive anti-RNP antibody. Conclusion AECAs could be frequently detected in CTD patients with or without PAH,while anti-22 kD and anti-75 kD AECA might be specific in CTD patients with PAH.

Glomerular Disease Associated with Takayasu Arteritis:6 Cases Analysis and Review of the Literature

Objective To evaluate the clinical features,renal histopathology and therapeutic response to glucocorticoid and immunosuppressive agents in patients with glomerular disease associated with Takayasu arteritis(TA).Methods Patients with TA and renal biopsy-confirmed glomerular disease were investigated retrospectively.None of them had renal artery stenosis or occlusive changes.Results Six patients with glomerulopathy,accounting for 3.75% of the 160 TA patients admitted to our hospital at the same period,were analyzed.All of them were females with a mean age of 35.5 ± 10.0 years.Four cases presented with lower extremity edema.Laboratory tests showed that one was nephrotic syndrome,three were nephrotic range proteinuria,and two of them had mild renal dysfunction.The other two patients were asymptomatic microscopic hematuria and proteinuria.Renal pathology revealed mild immunoglobulin A nephropathy in two cases,mild mesangial proliferative glomerulonephritis(GN),membranoproliferative GN,minimal change disease,and fibrillary GN in one case respectively.Five cases received glucocorticoids and cyclophosphamide therapy.Proteinuria and microscopic hematuria disappeared in 2 to 4 weeks after the initiation of therapy in three cases.The patient with membranoproliferative GN also reached complete remission of proteinuria and recovered renal function 6 months after the treatment.Conclusions TA may induce glomerular disease as a part of its histological spectrum.Apart from ischemic glomerular disease,glomerular disease should be suspected when TA patients have microscopic hematuria or proteinuria,that may be therapeutically responsive to glucocorticoids and immunosuppressive agent in relative early phase.

Subarachnoid hemorrhage due to systemic lupus erythematosus associated with multiple intracranial artery aneurysms

To the Editor:Systemic lupus erythematosus (SLE)is an autoimmune-mediated systemic inflammatory disease which involves nearly all organs of the body,and it is associated with premature atherosclerosis,vasculitis,and coagulopathy,^[1]Cases of subarachnoid hemorrhage (SAH)due to cerebral aneurysm associated with SLE are being reported more frequently.However,SAH due to SLE associated with multiple cerebral artery aneurysms that rapidly develop within only 2 months is rare,and the causal relations between cerebral aneurysm and SLE are not clearly understood.Herein,we reported a case of multiple cerebral artery aneurysms due to SLE,with enough evidence to confirm that the cerebral artery aneurysms were solely due to SLE.

Identification of a Novel Mutation in Solute Carrier Family 29, Member 3 in a Chinese Patient with H Syndrome

Background：H syndrome （OMIM 612391） is a recently described autosomal recessive genodermatosis characterized by indurated hyperpigmented and hypertrichotic skin,as well as other systemic manifestations.Most of the cases occurred in the Middle East areas or nearby countries such as Spain or India.The syndrome is caused by mutations in solute carrier family 29,member 3 （SLC29A3）,the gene encoding equilibrative nucleoside transporter 3.The aim of this study was to identify pathogenic SLC29A 3 mutations in a Chinese patient clinically diagnosed with H syndrome.Methods：Peripheral blood samples were collected from the patient and his parents.Genomic DNA was isolated by the standard method.All six SLC29A3 exons and their flanking intronic sequences were polymerase chain reaction （PCR）-amplified and the PCR products were subjected to direct sequencing.Results：The patient,an 18-year-old man born to a nonconsanguineous Chinese couple,had more extensive cutaneous lesions,involving both buttocks and knee.In his genomic DNA,we identified a novel homozygous insertion-deletion,c.1269_1270delinsA,in SLC29A3.Both of his parents were carriers of the mutation.Conclusions：We have identified a pathogenic mutation in a Chinese patient with H syndrome.

Large cell neuroendocrine carcinoma primarily in the pericardium:a case report and literature review

To the Editor:A 40-year-old Chinese woman who complained of chest pain and compression,dyspnea that lasted for 3 months,and abdominal distension that lasted for 2 weeks was admitted at our hospital in September 2015.In early June 2015,she felt pain and compression behind the sternum after deep inspiration.Echocardiography showed mild pericardial effusion with normal left ventricular ejection fraction 63%.In July,these symptoms gradually worsened,while laboratory tests showed no abnormalities during routine blood examination,or in liver,kidney and thyroid functions.

Early onset gout and chronic kidney disease in a young female patient

To the Editor:In 2018,a 31-year-old woman presented at our hospital with a 10-year history of chronic arthritis and chronic kidney disease(CKD).Arthritis occurred after a traumatic injury of her left ankle.She was then prescribed analgesics,and the symptoms were quickly resolved.Her serum uric acid(sUA)and serum creatinine(SCr)were both slightly elevated.Later on,the patient suffered joint pain on several occasions;the pain was triggered by a strain of the ankle or consumption of seafood and was most prominent at night.During each painful episode,the symptoms rapidly developed within 24 h,accompanied by skin redness and joint swelling,and decreased within a week.

Genetic Background of a Juvenile Onset Gout Patient

To the Editor： A 19-year-old Chinese male was admitted to Peking Union Medical College Hospital in November 2016, due to recurrent joints pain and swelling with hyperuricemia for 6 years. The first attack occurred in the first metatarsophalangeal joints （MTPI） of the left foot in August 2010 and was relieved gradually. The symptoms recurred in 2011. Subsequently, he was diagnosed with gouty arthritis. Then, the patient began to restrict his intake ofpurine-rich foods and drink excess water, but continued to suffer from recurrent attacks. Tophi were gradually found in bilateral MTP, proximal interphalangeal joint, metacarpal phalangeal joints, intertarsal joints, and auricles, successively.