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Acute myeloid leukemia (AML) with t(8;21) is generally associated with a favorable clinical course. Loss of sex chromosome (LOS) are frequently observed in t (8;21) AML, but the prognostic value of LOS remains uncertain.A total of 73 patients with AML with t(8;21) were studied and divided into t(8;21) with LOS group (The clinical characteristics (except for gender) were found to have no significant difference between these two groups, and the male patients tended to account for a larger proportion in the former group (Our results suggested that LOS could be associated with a favorable prognosis in t(8;21) AML patients without other ACAs, and for this subtype of AML, longer DFS and a satisfactory and stable survival can be achieved with high-dose cytarabine (HDAC) consolidation treatment.

BACKGROUND AND OBJECTIVES: Patients with monoclonal gammopathy and concomitant kidney diseases are frequently found in clinical practice. Some of them are diagnosed with monoclonal gammopathy of renal significance (MGRS) due to the presence of monoclonal Ig–related kidney injuries. This study aimed to investigate the histopathologic spectrum and clinical characteristics associated with MGRS in a large cohort of patients with monoclonal gammopathy and biopsy-proven kidney diseases from a single Chinese nephrology referral center. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: Patients who presented with monoclonal gammopathy (monoclonal spike on serum and/or urine immunofixation tests) and underwent kidney biopsy in the Peking University First Hospital from January 1, 1999 to December 31, 2020 were enrolled in this retrospective study. Patients with malignant hematologic diseases were excluded. Clinical and laboratory data were collected from the electronic medical record system. Comparisons of patients with and without MGRS and with and without amyloidosis were performed. The clinical characteristics associated with MGRS were identified using multivariable logistic regression. RESULTS: A total of 700 patients with monoclonal gammopathy and kidney biopsy were identified. Thirteen patients with repeat kidney biopsies were analyzed separately. For the remaining 687 patients with one kidney biopsy, 261 patients (38%) had MGRS lesions, and the rest (426 patients, 62%) had non-MGRS kidney diseases. Ig-related amyloidosis accounted for the most MGRS cases (n=164, 63%), followed by monoclonal Ig deposition disease (n=23, 9%) and thrombotic microangiopathy (n=22, 8%). In the non-MGRS group, membranous nephropathy was the most common diagnosis (n=171, 40%). In the multivariable logistic regression model, the presence of abnormal serum free light chain ratio, older age, and greater proteinuria were independently associated with MGRS. CONCLUSIONS: Monoclonal Ig amyloidosis is the leading cause of MGRS in Chinese patients with monoclonal gammopathy. The presence of abnormal free light chain ratio, older age, and greater proteinuria were associated with MGRS.

Background The detection of islet autoantibodies is essential for the accurate classification and diagnosis of diabetes mellitus (DM). The islet autoantibody distribution varies by age. However, screening strategies for DM patients with different onset ages remain lacking. Methods This cross-sectional study included 17 536 DM patients from 46 medical centers across China. The seroprevalence of glutamic acid decarboxylase autoantibody (GADA), insulinoma-associated-2 autoantibody (IA-2A), zinc transporter 8 autoantibody (ZnT8A) and insulin autoantibody (IAA) was determined in younger and older patients with type 1 DM (T1DM) (n=287 and 285, respectively), younger and older patients with latent autoimmune diabetes (LAD) (n=140 and 121, respectively), and younger and older patients with type 2 DM (T2DM) (n=200 in each group). Results The cutoff age between younger and older patients was 35 years using restricted cubic spline method (n = 17 536, adjusted R2 = 0.97, residual standard error = 1.32; P < 0.001). The seroprevalence rates of four islet autoantibodies were higher in patients aged 15-35 years than in those ≥ 35 years (GADA: 17% vs. 5.6%, IA-2A: 8.5% vs. 1.3%, ZnT8A: 6.3% vs. 2.3%, IAA: 2.2% vs. 1.0%). The prevalence of ZnT8A was higher in LAD patients than in T1DM patients, especially in older LAD patients. The results indicated that ZnT8A detection can increase the detection rate of older LAD patients from 70.2% (based on GADA detection alone) to 91.7%. Conclusions In patients stratified according to the cutoff age of 35 years, the optimal detection sequence should be GADA, IA-2A, and ZnT8A in younger patients and GADA, ZnT8A, and IA-2A in older patients, so as to reduce the screening cost while improving the detection rate. Particularly, the ZnT8A test is recommended in older patients to avoid a missed LAD diagnosis.

We aimed to assess whether blood glucose control can be used as predictors for the severity of 2019 coronavirus disease (COVID-19) and to improve the management of diabetic patients with COVID-19. A two-center cohort with a total of 241 confirmed cases of COVID-19 with definite outcomes was studied. After the diagnosis of COVID-19, the clinical data and laboratory results were collected, the fasting blood glucose levels were followed up at initial, middle stage of admission and discharge, the severity of the COVID-19 was assessed at any time from admission to discharge. Hyperglycemia patients with COVID-19 were divided into three groups: good blood glucose control, fair blood glucose control, and blood glucose deterioration. The relationship of blood glucose levels, blood glucose control status, and severe COVID-19 were analyzed by univariate and multivariable regression analysis. In our cohort, 21.16% were severe cases and 78.84% were nonsevere cases. Admission hyperglycemia (adjusted odds ratio [aOR], 1.938; 95% confidence interval [95% CI], 1.387-2.707), mid-term hyperglycemia (aOR, 1.758; 95% CI, 1.325-2.332), and blood glucose deterioration (aOR, 22.783; 95% CI, 2.661-195.071) were identified as the risk factors of severe COVID-19. Receiver operating characteristic (ROC) curve analysis, reaching an area under ROC curve of 0.806, and a sensitivity and specificity of 80.40% and 68.40%, respectively, revealed that hyperglycemia on admission and blood glucose deterioration of diabetic patients are potential predictive factors for severe COVID-19. Our results indicated that admission hyperglycemia and blood glucose deterioration were positively correlated with the risk factor for severe COVID-19, and deterioration of blood glucose may be more likely to the occurrence of severe illness in COVID-19.

Background Fatal hemorrhagic pneumonia is one of the most severe manifestations of Stenotrophomonas maltophilia (SM) infections. Here, we aimed to investigate the clinical characteristics of SM bacteremia and to identify the risk factors of hemorrhagic pneumonia caused by SM in patients with hematologic diseases. Methods The clinical records of 55 patients diagnosed with hematologic diseases and SM bacteremia were retrospectively reviewed. We compared patients’ clinical characteristics and outcomes between the hemorrhagic pneumonia group and non-hemorrhagic pneumonia group. Results Twenty-seven (49.1%) patients developed hemorrhagic pneumonia. The overall mortality rate of SM bacteremia was 67.3%. Hemorrhagic pneumonia (adjusted HR 2.316, 95% CI 1.140–4.705; P = 0.020) was an independent risk factor of 30-day mortality in hematological patients with SM bacteremia. Compared with the non-hemorrhagic pneumonia group, patients in the hemorrhagic pneumonia group were older and showed clinical manifestations as higher proportions of isolated SM in sputum culture, neutropenia and elevated procalcitonin (PCT). Multivariate analysis showed that neutropenia, high levels of PCT, prior tigecycline therapy within 1 month were independent risk factors associated with hemorrhagic pneumonia. Conclusions Neutropenia, high level of PCT and prior tigecycline therapy within 1 month were significant independent predictors of hemorrhagic pneumonia in hematologic patients with SM bacteremia. Due to no effective antibiotics to prevent hemorrhagic pneumonia, prophylaxis of SM infection and its progression to hemorrhagic pneumonia is particularly important.

Adults with acute myeloid leukaemia have unsatisfactory clinical outcomes and rates of complete remission. Venetoclax combined with azacytidine or low-dose cytarabine has shown efficacy in adults aged 75 years or older (or 18-74 years with comorbidities precluding intensive chemotherapy) with acute myeloid leukaemia. We aimed to investigate the activity and safety of venetoclax plus 3+7 daunorubicin and cytarabine chemotherapy in adults with acute myeloid leukaemia.We conducted a two-stage, single-arm, phase 2 trial at three public hospitals in China. We enrolled patients aged 18-60 years with previously untreated de novo acute myeloid leukaemia and an Eastern Cooperative Oncology Group performance status of 0-2. Patients received induction treatment with intravenous daunorubicin (60 mg/mBetween Dec 25, 2020, and July 7, 2021, 36 patients were assessed for eligibility and 33 were enrolled. 15 (45%) patients were men and 18 (55%) were women, and all were Asian. The composite complete remission rate after one cycle of DAV regimen was 91% (95% CI 76-98; 30 of 33 patients) in the entire cohort. 29 (97%) of 30 patients who reached complete remission had undetectable measurable residual disease (ie,0·1%). Grade 3 or worse adverse events included neutropenia in 33 (100%) of 33 patients, thrombocytopenia in 33 (100%), anaemia in 33 (100%), febrile neutropenia in 18 (55%), pneumonia in seven (21%), and sepsis in four (12%). No treatment-related deaths occurred. With a median follow-up of 11 months (IQR 9-12), estimated 1-year overall survival was 97% (95% CI 91-100) and 1-year event-free survival was 72% (56-94).The DAV regimen represents an effective induction therapy for newly diagnosed adults with acute myeloid leukaemia, which resulted in a high rate of complete remission. These findings are an important contribution to the field, showing a safe strategy to incorporate venetoclax into the most common induction regimen used to treat newly diagnosed acute myeloid leukaemia internationally.Leading Innovative and Entrepreneur Team Introduction Program of Zhejiang, National Natural Science Foundation of China, Key Research and Development Program of Zhejiang.For the Chinese translation of the abstract see Supplementary Materials section.

Bactericidal/permeability-increasing fold containing family A, member 1 (BPIFA1) is an innate immunity defense protein. Our previous studies proved its antibacterial and antiviral effects, but its role in fungi remains unknown. The study aimed to identify antifungal peptides (AFP) derived from BPIFA1, and three antimicrobial peptides (AMP1-3) were designed. The antifungal effects were proved by growth inhibition assay. AMP3 activity was confirmed by germ tube growth experiment and XTT assay. Its effects on cell wall and membrane of

Clinical trials have investigated the weight loss effect of glucagon-like peptide-1 receptor agonists (GLP-1 RA) in adults with obesity without diabetes mellitus, but results for weight loss efficacy were varied. We aimed to provide an up-to-date systematic review and meta-analysis for overall weight loss effect of GLP-1 RA in adults with obesity and overweight without diabetes mellitus. We retrieved eligible randomized control trials that assessed the weight loss effect of GLP-1 RA in adults (≥18 years old) without type 1/type 2 diabetes up to September 30, 2021, using Pubmed and Embase. Of 36 clinical trials assessed for eligibility, 12 trials were included, with a combined total of 11,459 participants. Compared with control groups, a more significant weight loss was seen in GLP-1 RA groups with an overall mean difference of -7.1 kg (95% CI -9.2 to -5.0) (I

Objective: To assess the diagnostic and prognostic value of magnetic resonance imaging (MRI) in Acute Myeloid Leukemia (AML) complicated with central nervous system leukemia (CNSL). Methods: A tota...

The purpose of this study was to identify the incidence, sites and main pathogens, and risk factors for infectious complications occurring in patients with adult acute myeloid leukemia (AML) during the first course of venetoclax combined with decitabine or azacitidine.A retrospective cohort analysis was performed of 81 patients with AML older than 14 years who received the first cycle of venetoclax combined with a hypomethylating agent (HMA) between March 2018 and March 2021 at our institution. Infectious complications, if any, were documented.Among a total of 81 cases of AML, 59 (72.8%) patients occurred infections, including fever without an identifiable source (28.8%), clinically documented infections (40.7%), and microbiologically documented infections (30.5%). The most commonly isolated organism in culture was Candida albicans, followed by Klebsiella pneumonia, and Pseudomonas aeruginosa. The 4-week and 8-week mortality rates were 3.7% and 7.4%, respectively. In multivariate analysis, a high proportion of blasts in bone marrow, decreased hemoglobin level, and fever with or without a documented infection at baseline were significant independent risk factors for infectious complications.Compared with conventional chemotherapy, the incidence of infectious complications of venetoclax combined with decitabine or azacitidine significantly decreased. Pretreatment high leukemia burden and fever were independent risk factors for infections.

Amyloid light‐chain (AL) is characterized by the presence of small, poorly proliferating plasma cell clones with the production and deposition of light chains into tissues. T cell changes within the tumour microenvironment in AL are poorly understood. By sequencing at a single‐cell level of CD3+ T cells purified from bone marrow (BM) and blood of newly diagnosed AL patients before and after a combination of daratumumab with cyclophosphamide, bortezomib, and dexamethasone (Dara‐BCD), we analysed the transcriptomic features of T cells and found an expansion, activation and type I cytokine upregulation in BM and circulating T cells after the treatment. More prominent changes were shown in CD8+ T cells. In particular, we found the presence of CD8+ BM resident memory T cells (TRM) with high expression of inhibitory molecules in AL patients at diagnosis. After Dara‐BCD, these TRM cells were quickly activated with downregulation of suppressive molecules and upregulation of IFNG expression. These data collectively demonstrate that Dara‐based therapy in patients with AL amyloidosis promotes anti‐tumour T cell responses. The similar transcriptomic features of BM and circulating T cells before and after therapy further provide a less invasive approach for molecular monitoring of T cell response in AL amyloidosis., We performed scRNA‐seq of T cells in patients with AL amyloidosis before and after daratumumab‐based therapy and observed prominent changes in CD8+ T cells after treatment. In particular, we found the presence of CD8+ bone marrow resident memory T cells (TRM) with high expression of inhibitory molecules in AL patients at diagnosis. After daratumumab‐based treatment, these TRM cells were quickly activated with downregulation of suppressive molecules and upregulation of IFNG expression.

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Objective To investigate the demographic and clinicopathological features and renal outcomes of Chinese patients with C3 glomerulonephritis in the setting of monoclonal gammopathy. Methods Patients with renal biopsy-proven C3 glomerulonephritis and detectable serum and/or urine monoclonal immunoglobulin from 2006 to 2018 in Peking University First Hospital were included, their clinical data, renal pathology type, treatment, and prognosis were collected and analyzed. Results Nineteen patients were enrolled, accounting for 24% of C3GN patients in the study period. The mean age of onset was 55 years old and the gender ratio was 4/15 (female/male). The mean eGFR at biopsy was 49.55 ± 29.81 ml/min/1.73m2. The prominent clinical manifestations included nephrotic syndrome (58%), anemia (68%), microscopic hematuria and leukocyturia (58%), and hypocomplementemia (13, 68%). The IgG was the most common isotype of monoclonal Ig on immunofixation electrophoresis. Kidney biopsies revealed a relatively prominent MPGN pattern. Only two patients had direct evidence of monocle immunoglobulins acting as C3GN pathogenic factors. Two patients had concurrent TMA-like renal injuries. The median renal survival was 12 and 15 months, respectively in patients receiving conservative therapy and immunosuppressant therapy, without statistical significance. The efficacy of clone-targeted therapy needed further investigation. Plasma exchange therapy only improved one patient’s renal outcome. Conclusions This is the first case series report of C3GN combined with monoclonal Ig in northern China. The renal prognosis of these patients is poor, and immunosuppressant therapies show no advantage over supportive therapy in renal prognosis, while the benefit of clone-targeted chemotherapy is still requiring investigation.

Acute myeloid leukemia (AML) is a highly heterogeneous hematopoietic malignancy that strongly correlates with poor clinical outcomes. Ferroptosis is an iron-dependent, non-apoptotic form of regulated cell death which plays an important role in various human cancers. Nevertheless, the prognostic significance and functions of ferroptosis-related genes (FRGs) in AML have not received sufficient attention. The aim of this article was to evaluate the association between FRGs levels and AML prognosis using publicly available RNA-sequencing datasets. The univariate Cox regression analysis identified 20 FRGs that correlate with patient overall survival. The LASSO Cox regression model was used to construct a prognostic 12-gene risk model using a TCGA cohort, and internal and external validation proved the signature efficient. The 12-FRGs signature was then used to assign patients into high- and low-risk groups, with the former exhibiting markedly reduced overall survival, compared to the low-risk group. ROC curve analysis verified the predictive ability of the risk model. Functional analysis showed that immune status and drug sensitivity differed between the 2 risk groups. In summary, FRGs is a promising candidate biomarker and therapeutic target for AML.

Background Spontaneous perirenal hemorrhage is relatively uncommon but may be life-threatening. There are some challenges in early diagnosis due to the lack of specific presentations. Case presentation We report a case of spontaneous perirenal hemorrhage in a newly diagnosed systemic lupus erythematosus patient who initially presented with non-specific flank pain. Weakness and unstable vital signs were noted on admission. Abdominal ultrasonography and computed tomography revealed a sizable perirenal hematoma over the left retroperitoneal cavity. Renal arteriography identified active extravasation of contrast media from a distant branch of the left renal artery, and selective embolization effectively obliterated the bleeding spot. After cessation of bleeding, the patient received intensive immunosuppressive therapy for acute kidney injury and encephalopathy due to lupus. Her mental status recovered successfully, and she was withdrawn from short-term hemodialysis. Conclusions Spontaneous perirenal hemorrhage in the condition of systemic lupus erythematosus was a rare clinical entity with life-threatening potential. Early accurate diagnosis of spontaneous renal hemorrhage requires both detailed clinical examination and radiologic studies. Interventional embolization is essential and effective for both diagnosis and treatment. A high index of suspicion is necessary to avoid missing this potentially fatal syndrome, especially in patients with an increased risk of bleeding.

A 43-year-old Chinese man with a silicosis history was admitted to our hospital due to bilateral lower extremity edema for 1 year, exacerbating with hematuria for 2 months. He started working as a coal miner 30 years ago, and was diagnosed as silicosis 3 months ago. Lab tests revealed hematuria 3+, proteinuria 3+, and a serum creatinine value 2.47 mg/dl on routine check. He was diagnosed with focal proliferative IgA nephropathy (IgAN) and acute tubulo-interstitial nephritis by renal biopsy. He was treated with corticosteroids and got a remission 4 months later. Immunohistochemical staining showed the deposition of macrophage receptor with collagenous structure (MARCO), nod-like receptor pyrin domain-containing-3 (NLRP3), Caspase-1, apoptosis-associated speck (ASC), interleukin (IL)-1β, and IL-18 in both glomerular and tubulo-interstitial areas. We proposed that the silicon exposure could be related to his kidney disease in the patient and NLRP3 mediated inflammation might be involved in its pathogenesis which needs further explorations.

Background Light chain cast nephropathy (LCCN) is the most common kidney lesion in multiple myeloma patients. LCCN may exhibit a crystalline appearance. The frequency and clinical significance of crystalline LCCN are not well understood. Here, we report the first retrospective study of crystalline LCCN. Methods Twenty-six patients with LCCN were enrolled. We studied the clinicopathological features and outcomes of LCCN patients and compared ordinary LCCN patients (n = 18) with crystalline LCCN patients (n = 8). Results Crystalline LCCN was not rare (8/26, 30.8%) in our study. The median age of LCCN patients was 57.5 (range, 41–75) years. No patients presented with nephrotic syndrome. No significant differences in clinical features were observed between the two groups. All crystalline LCCN patients suffered from advanced multiple myeloma and acute kidney injury. There was a dominance of the λ isotype (7/8, 87.5%) in patients with crystalline LCCN. Patients with ordinary LCCN had significantly higher scores of tubular atrophy and acute tubular injury than those with crystalline LCCN. The crystalline casts of 5 crystalline LCCN patients stained negative with antihuman Tamm-Horsfall glycoprotein. There were no significant differences in the median overall survival between the crystalline LCCN group and the ordinary LCCN group (6.0 months vs. 35.0 months, p = 0.173). However, crystalline LCCN patients had higher early mortality than ordinary LCCN patients (50.0% vs 11.1%, p = 0.03). Conclusion Crystalline LCCN patients had higher early mortality than ordinary LCCN patients. Thus, for patients with LCCN, crystalline appearance should be screened carefully.

Runx1 is highly expressed in osteoblasts, however, its function in osteogenesis is unclear. We generated mesenchymal progenitor-specific (Runx1f/fTwist2-Cre) and osteoblast-specific (Runx1f/fCol1α1-Cre) conditional knockout (Runx1 CKO) mice. The mutant CKO mice with normal skeletal development displayed a severe osteoporosis phenotype at postnatal and adult stages. Runx1 CKO resulted in decreased osteogenesis and increased adipogenesis. RNA-sequencing analysis, Western blot, and qPCR validation of Runx1 CKO samples showed that Runx1 regulates BMP signaling pathway and Wnt/β-catenin signaling pathway. ChIP assay revealed direct binding of Runx1 to the promoter regions of Bmp7, Alk3, and Atf4, and promoter mapping demonstrated that Runx1 upregulates their promoter activity through the binding regions. Bmp7 overexpression rescued Alk3, Runx2, and Atf4 expression in Runx1-deficient BMSCs. Runx2 expression was decreased while Runx1 was not changed in Alk3 deficient osteoblasts. Atf4 overexpression in Runx1-deficient BMSCs did not rescue expression of Runx1, Bmp7, and Alk3. Smad1/5/8 activity was vitally reduced in Runx1 CKO cells, indicating Runx1 positively regulates the Bmp7/Alk3/Smad1/5/8/Runx2/ATF4 signaling pathway. Notably, Runx1 overexpression in Runx2-/- osteoblasts rescued expression of Atf4, OCN, and ALP to compensate Runx2 function. Runx1 CKO mice at various osteoblast differentiation stages reduced Wnt signaling and caused high expression of C/ebpα and Pparγ and largely increased adipogenesis. Co-culture of Runx1-deficient and wild-type cells demonstrated that Runx1 regulates osteoblast−adipocyte lineage commitment both cell-autonomously and non-autonomously. Notably, Runx1 overexpression rescued bone loss in OVX-induced osteoporosis. This study focused on the role of Runx1 in different cell populations with regards to BMP and Wnt signaling pathways and in the interacting network underlying bone homeostasis as well as adipogenesis, and has provided new insight and advancement of knowledge in skeletal development. Collectively, Runx1 maintains adult bone homeostasis from bone loss though up-regulating Bmp7/Alk3/Smad1/5/8/Runx2/ATF4 and WNT/β-Catenin signaling pathways, and targeting Runx1 potentially leads to novel therapeutics for osteoporosis., Author summary Bone loss in osteoporosis and many other degenerative bone diseases is characterized by decreased bone formation and increased fat accumulation in the bone marrow, especially during aging, and many are suspected to have a genetic basis. Bone marrow mesenchymal stem cells (BMSCs) can differentiate into adipocytes, chondrocytes, and osteoblasts. BMSCs from aging or genetic defect subjects are less likely to differentiate into osteoblasts while more inclined to differentiate into adipocytes. However, the molecular mechanisms remain elusive. Here, we describe a new mutant mice model-Runx1 mesenchymal progenitor-specific and osteoblast-specific conditional knockout (Runx1 CKO) mice, which showed the severe bone formation defects and adipocytes accumulation. Here, we revealed that Runx1 enhances osteoblast lineage commitment promotes bone formation and inhibits adipogenesis by up-regulating the Bmp7/Alk3/Smad1/5/8/Runx2/ATF4 and WNT/β-catenin signaling pathways and orchestrating multiple signaling pathways involved in bone formation. These findings further elucidated the roles of Runx1 in bone homeostasis with implications into development of novel therapeutic strategies for osteoporosis as well as other degenerative bone diseases.

To explore the effect of anterolateral spinal canal decompression combined with short segment screw fixation with posterior approach for severe thoracolumbar burst fractures with spinal cord injury.From January 2016 to June 2018, 16 patients with severe thoracolumbar burst fractures (more than 50% of ratio of spinal canal encroachment, reverse fragment at the posterior edge of the vertebral body) with spinal cord injury were retrospectively analyzed, including 10 males and 6 females, ranging in age from 19 to 57 years old. Causes of injury:8 cases of fall injury, 6 cases of traffic accident injury and 2 cases of other injuries. Fracture site:TAll 16 patients were followed up, and the average follow up time was (15.9±5.4) months. The average operation time was (234±41) minutes and the average amount of bleeding was (431±93) ml. The loss of anterior height of injured vertebrae was (52.25±10.10)% before operation, (8.93± 3.61)% at 3 days after operation, and (9.25±2.88)% at the latest follow up. The results of 3 days after operation and the latest follow up were better than that before operation, and there was no significant differencesbetween results at the latest follow up and 3 days after operation (For severe thoracolumbar burst fracture and spinal cord injury, with more than 50% of ratio of spinal canal encroachment and reverse fragment at the posterior edge of the vertebral body, the anterolateral spinal canal decompression combined with short segment screw fixation with posterior approach has the characteristics of accurate reduction, complete decompression and firm fixation, and the clinical effect is satisfactory.

17q12 Deletion Syndrome is heterogeneous and the reasons remain unclear. We clarified the clinical characteristics of adulthood diabetes onset 17q12 deletion syndrome and investigated the unclear phenotype-genotype correlation. We collected the clinical history and laboratory results of a family with autosomal dominant inheritance diabetes and renopathy. Sanger sequencing of HNF1B and a panel of monogenic diabetic genes were performed to identify the monogenetic diabetes. Semiquantitative PCR and Chromosome 100 K sequence analysis were performed to analyze the copy numbers variation of diabetes related genes. Allelic specific quantitative PCR were used for TBC1D3 and paralogues diagnosis. The reported cases were reviewed and assessed to compare with patients in this study. Differential variants in genomic DNA and clinical presentations among family members were explored to determine the probable phenotype-genotypes correlation. The four patients were diagnosed with 17q12 deletion syndrome with 1.47–1.76 Mb heterogeneous deletion, which led to the haploinsufficiency of HNF1B, ACACA, LHX1, PIGW, miRNA2909 and other genes. The patients had different amount of genes deletion in TBC1D3 and paralogues, which might associate with the heterogeneous clinical phenotypes. We first reported an adulthood diabetes onset 17q12 deletion syndrome family with the largest number of patients. The heterogeneous clinical phenotypes might be related to the haploinsufficiency of TBC1D3 and its paralogues.

Background Multiple myeloma (MM) is a plasma-cell derived hematologic malignant disease. The malignant proliferating plasma cells secrete massive monoclonal immunoglobulins which lead to various pathologic types of renal injury. Myeloma cast nephropathy (MCN) is the most common histopathologic lesion with the worst renal prognosis. Rarely, the free light chains in the protein casts can form amyloid fibrils. Here, we reported two rare cases of MCN with diffuse amyloid casts. Case presentation Case 1: A 54-year-old Chinese man presented with a 4-year history of multiple myeloma, proteinuria and hematuria. He had monoclonal IgAλ plus free λ spike in both serum and urine. He had been on chemotherapy for 4 years and maintained normal serum creatinine until 11 months ago. Then, his renal function deteriorated and he went on hemodialysis 4 months before admission. Renal biopsy showed diffuse amyloid casts in the tubular lumens, without any obvious amyloid deposits in other kidney compartments or signs of extra-renal amyloidosis. The amyloid fibrils formed around mononuclear cells which were CD68 negative. According to the morphology and location, these mononuclear cells were considered as tubular epithelial cells. The patient was maintained on chemotherapy and hemodialysis. He died 8 months after renal biopsy. Case 2: A 58-year-old Chinese man presented with a one-and-a-half-year history of proteinuria and slowly rising serum creatinine. He had monoclonal IgDλ spike in both serum and urine. Amyloid casts were observed in the tubular lumens and mononuclear cells could be identified in the center of some casts. There were no amyloid deposits in other kidney compartments and no sign of systemic amyloidosis. The patient also had fine granular deposits along the tubular basement membrane with λ linear staining along tubular basement membrane suggesting light chain deposition disease. He was treated with bortezomib-based chemotherapy followed by lenalidomide-based chemotherapy and achieved very good partial remission (VGPR). After 27 months of follow-up, the patient still showed no signs of systemic amyloidosis. Conclusions These 2 cases of MCN with diffuse amyloid casts have different histopathologic characteristics from the usual myeloma casts and tubular epithelial cells might play important roles in the pathogenesis.

Light chain cast nephropathy is the most common form of renal lesion in multiple myeloma. Kidney impairment caused by light chain cast nephropathy can be reversed and survival can be improved if early diagnosis is available. It is thus of imperative importance to develop a non-invasive method to diagnose light chain cast nephropathy once the kidney biopsy is not always applicable.We consecutively screened newly diagnosed multiple myeloma patients with kidney biopsies from 4 centers in China. Kidney pathologies were reviewed and clinical presentations were recorded. Then a diagnostic model was established by logistic regression and the predictive values were assessed.Between 1 June 1999 and 30 June 2019, a kidney biopsy was performed in 94 patients with newly diagnosed multiple myeloma, and light chain cast nephropathy was the most common pattern, seen in 52% of biopsied patients. The diagnostic model was established by multivariate logistic regression analysis as P(z) = 1/(1 + eWe built a novel, non-invasive diagnostic model through a multicenter study, which may be helpful in the diagnosis of light chain cast nephropathy in newly diagnosed multiple myeloma patients.

We report a young woman presented with nephrotic syndrome and normotension during every pregnancy and achieved complete remissions after the deliveries. We thus inferred that her nephrotic syndrome was closely associated with pregnancy. Kidney biopsies were perfromed and showed different histologic patterns: the first biopsy showed a pattern of endocapillary proliferative glomerulonephritis; the second biopsy revealed proliferative glomerulonephritis with monoclonal immunoglobulin deposits (PGNMID) with features of membranous nephropathy. With regard to presentation during the second trimester of pregnancy, achieving complete remission after delivery, and no relapse during the follow-up period, pregnancy associated PGNMID is suggested. To our best knowledge, this is the first reported case of PGNMID associated with pregnancy.

Background Atypical clinical symptoms of juvenile hereditary hemochromatosis (JHH) often leads to misdiagnosis and underdiagnosis bringing ominous outcomes, even death. Methods The whole exome was sequenced and interpreted. A literature review assisted to analyze and verify the phenotype–genotype relationships. We revealed the entire process of diagnosis, treatments, and outcome of two diabetic onset of JHH families to provide new insights for genotype–phenotype relation with novel compound heterozygous mutations in the hepcidin antimicrobial peptide (HAMP, OMIM: 606464). Results Two probands were diagnosed and treated as type 1 diabetes initially because of specific symptoms and positive islet autoantibodies. Poor control of hyperglycemia and progressive symptoms occurred. Sequencing informed that the compound heterozygous and homozygous mutations c.166C>G and c.223C>T in HAMP caused type 1 diabetic‐onset JHH. The two patients accessed irregular phlebotomy treatments, and then, experienced poor prognosis. We summarized the process of overall clinical management of reported 26 cases comparing to our novel atypical diabetic onsets Juvenile Hereditary Hemochromatosis cases. Conclusion It was first reported that positive pancreatic islet autoantibodies diabetes onset of JHH resulted from loss‐of‐function mutations of HAMP, of which the atypical JHH should be differentially diagnosed with type 1 diabetes at the onset. Early administration of phlebotomy and vital organs protection and surveillance might be important for the treatment of atypical JHH., It reported the positive pancreatic islet autoantibody diabetes onset JHH case. A novel compound heterozygosity mutation in HAMP was found. Early administration of phlebotomy and vital organs protection are important.

Background Eosinophilic peritonitis is a relatively rare entity. Kimura’s disease is a rare chronic inflammatory disorder of unknown etiology, characterized by subcutaneous nodules mainly in the head and neck region, regional lymphadenopathy and occasional involvement of kidney. There is currently no report of eosinophilic peritonitis in Kimura’s disease. Case presentation A 44-year-old Chinese man presented with abdominal distention, nausea, vomiting and edema in lower limbs for 1 month. Laboratory data showed elevated eosinophils in peripheral blood and ascites, nephrotic syndrome with progressively renal dysfunction, and elevated IgE. Ultrasonography of lymph nodes showed multiple lymphadenopathy in bilateral inguinal regions. Surgical excision was performed for one of the enlarged lymph nodes and histopathology revealed diagnosis of Kimura’s disease. Renal biopsy indicated focal segmental glomerulosclerosis (FSGS) and acute tubulointerstitial nephritis with infiltration of eosinophils in renal interstitium. The patient was prescribed with oral prednisolone therapy (30 mg/day), and underwent continuous ambulatory peritoneal dialysis (CAPD). The peripheral and peritoneal eosinophil count decreased rapidly and normalized within 2 days. Forty-five days after prednisolone therapy, partial remission of nephrotic syndrome and decrease of serum creatinine were achieved while peritoneal dialysis dosage had decreased. Inguinal lymph nodes gradually shrunk in size. The overall conditions remain stable afterwards. Conclusions This rare case highlighted the clinical conundrum of a patient presenting with eosinophilic peritonitis, lymphadenopathy, nephrotic syndrome and renal failure associated with Kimura’s disease. The remarkable eosinophilia, pathology of lymph node and kidney, as well as significant response to steroids should guide towards the diagnosis.

Prolonged exposure to mercury can cause membranous nephropathy. Mercury-associated membranous nephropathy (M-MN) and idiopathic membranous nephropathy (I-MN) have similar clinical manifestations, making misdiagnoses likely. We compared the clinicopathological and ultrastructural features of M-MN and I-MN.We retrospectively analyzed the clinicopathological data of 13 M-MN patients and 13 I-MN patients. Electron micrographs of glomerular capillaries were taken, and foot process width (FPW) and the number of foot processes per 10 μm glomerular basement membrane (GBM) were calculated. The presence and location of electron-dense deposits were recorded.Compared with I-MN patients, M-MN patients were younger (38.7 ± 8.5 versus 45.8 ± 5.7 years, P = 0.020), achieved complete remission more quickly (9.0 ± 6.1 versus 20.3 ± 9.8 months, P = 0.004), and had a lower relapse rate (0 versus 45.5%, P = 0.014). Patients with M-MN also had lower FPW (974.3 [interquartile range or IQR, 791.2-1504.4] nm versus 2370.6 [IQR, 2219.4-2559.1] nm, P = 0.001), more foot processes per 10 μm GBM (8.1 [IQR, 5.2-10.0] versus 3.3 [IQR, 3.1-3.5], P = 0.001), and a higher rate of mesangial electron-dense deposits (41.7% versus 0, P = 0.015). A cut-off FPW of1654 nm differentiated M-MN from I-MN with high sensitivity (92.3%) and specificity (83.3%).Foot process effacement was less severe in M-MN than in I-MN. In patients with mercury toxic exposure, MN with less severe foot processes effacement suggested mercury could be the cause. Better prognosis in patients with M-MN may be associated with minor podocyte damage.

Background: Leukocyte chemotactic factor 2 (ALECT2) amyloidosis is one of the recently described types of amyloidosis. In this study, we reported the first large case series of renal ALECT2 amyloid...

BACKGROUND Patients with acute myeloid leukaemia (AML) often develop severe infections during myelosuppression after chemotherapy. Linezolid is an appropriate choice for these patients when coverage of positive bacteria is needed. An important side effect of linezolid is linezolid-induced thrombocytopenia; so, the safety of linezolid for AML patients in myelosuppression is of concern. No study has focused on platelets in these patients. METHODS We reviewed 1356 AML patients who received consolidation chemotherapy in our hospital during January 2009 and June 2019. Among them, 36 patients were treated with linezolid and 41 with vancomycin. We counted the days of platelet count

Nutrition transition in China has a strong impact on dietary quality and health of Chinese consumers. This study developed the diet quality divergence Index (DQD), the divergence between real food consumption and the Chinese food pagoda 2016 (CFP), to measure the quality of diet in China. Using four waves of data (2004, 2006, 2009, and 2011) from China Health and Nutrition Survey (CHNS), this study shed light on the transition of diet quality for Chinese residents. Results indicate that the DQD generally decreased and Chinese diet quality improved during 2004&ndash, 2011. The divergence was mainly caused by over-consumption of legumes and nuts, and under-consumption of milk and milk products. Rising income and urbanization were positively correlated with diet quality for the people with low DQD. However, both of them had negative impacts on diet quality for those with high DQD. Females and rural residents held a lower DQD than their counterparts. The results also revealed that healthy food preference, education, dining at home, household size, proportions of teens (6&ndash, 17) and elders (over 64) in the families are positively correlated with Chinese diet quality. However, labor intensity, frequency of drinking alcohol, and smoking have negative impacts on diet quality. Moreover, higher DQD was found to be associated with increasing risks of overweight/obesity. Therefore, we suggest national healthy policies should pay more attention to nutrition education. It is also necessary to focus on populations with poor diet quality and to adopt measures to control drinking alcohol and smoking.

BackgroundThe commonly used methods for amyloid typing include immunofluorescence or immunohistochemistry (IHC), which sometimes may come with diagnostic pitfalls. Mass spectrometry (MS)-based proteomics has been recognized as a reliable technique in amyloid typing.Case presentationWe reported two middle-aged patients who presented with proteinuria, hypertension and normal renal function, and both had a family history of renal diseases. The renal biopsies of both patients revealed renal amyloidosis with the similar pattern by massive exclusively glomerular amyloid deposition. The IHC was performed by using a panel of antibodies against the common types of systemic amyloidosis, and demonstrated co-deposition of fibrinogen Aα chain and apolipoprotein A-I in the glomerular amyloid deposits of each patient. Then the MS on amyloid deposits captured by laser microdissection (LMD/MS) and genetic study of gene mutations were investigated. The large spectra corresponding to ApoA-I in case 1, and fibrinogen Aα chain in case 2 were identified by LMD/MS respectively. Further analysis of genomic DNA mutations demonstrated a heterozygous mutation of p. Trp74Arg in ApoA-I in case 1, and a heterozygous mutation of p. Arg547GlyfsTer21 in fibrinogen Aα chain in case 2.ConclusionsThe current study revealed that IHC was not reliable for accurate amyloid typing, and that MS-based proteomics and genetic analysis were essential for typing of hereditary amyloidosis.

BackgroundExperimental studies have demonstrated that hypersecretion of growth hormone (GH) is associated with development of glomerular sclerosis. However, clinical case of such condition is very rare. Here we presented a case of focal segmental glomerulosclerosis (FSGS) associated with acromegaly.Case presentationA 63-year-old man was diagnosed as nephrotic syndrome with minimal change disease for 2 years. Prednisone 1 mg/kg/day for 9 months led to no response. After admission, the second kidney biopsy indicated FSGS (NOS variant). On admission, his acromegalic features were noticed and he complained with a 20-year history of soft tissue swelling of hands and feet. Serum GH and insulin-like growth factor 1 (IGF-1) concentrations were both elevated significantly. An oral glucose tolerance test showed inadequate suppression of serum GH. The presence of a pituitary macroadenoma with a diameter of 1.4 cm by MRI confirmed the diagnosis of acromegaly. Then, the tumor was subtotally removed by trans-sphenoidal surgery. Partial remission of proteinuria was achieved 3 months after surgery and maintained during follow-up, with gradual reduce of corticosteroid.ConclusionsThis rare case suggested that the hypersecretion of GH may participate, at least in part, in FSGS development and progression. Early diagnosis and treatment of acromegaly is beneficial.

Although high mortality in patients with acute leukemia (AL) is associated with intracranial hemorrhage (ICH), the clinical features and pathogenesis of AL patients with cerebral hemorrhage are not well known.We diagnosed 90 patients with ICH from a total of 1467 patients with non-promyelocytic AL who had been hospitalized in the First Affiliated Hospital of Medical School of Zhejiang University from January 2010 to October 2015. Moreover, the risk factors of ICH death were evaluated.Median age at ICH was 51years old, in which men accounted for 52.2%. They also accounted for 85.6% of acute myeloid leukemia. The relative incidence of ICH was the highest in M2 and M5 (60.1%). ICH presented with higher peripheral blood white blood cell count (WBC) (P0.001), lower peripheral platelet counts (P0.001), lower albumin (P0.001), lower fibrous protein (P0.001) and prolongation of prothrombin time (P0.001) compared to those observed in the patients of NICH group; multivariate analysis, independent risk factors for death in patients with ICH include: WBC≥30.00×109/l and prothrombin time≥12.91 s.Leukocytosis and coagulation dysfunctions might be the main pathogenesis of acute leukemia complicated with cerebral hemorrhage.

Land use multi-functionalization (LUMF) promotes efficient and sustainable land use, reduces land pressures from limited land resources, and elevates urbanization quality in the midst of the increasingly tense relationship between humans and nature. In this study, we propose a new conceptual index system using system science, entropy weight method, triangle model, and coupling coordination degree model for LUMF assessment as well as an analysis of the relationship among land use sub-functions. This framework was applied to six cities in the urban agglomeration around Hangzhou Bay (UAHB) in eastern China's Zhejiang Province using twenty-two indicators in terms of production-living-ecology analysis during 2004–2013. The UAHB LUMF level increased over the past ten years, being affected by the designated functions and the “planning effect” for the six cities in the UAHB. The relationships among land use sub-functions in the six cities displayed strong variabilities at the spatial and temporal scales. The overall patterns of the relative importance of these sub-functions also differed from each other. Our research also shows that urban development in the UAHB had focused more on economic growth than on ecological protection and the regional development in the UAHB's six cities was unbalanced. Therefore, we suggest urban and land use management need to embrace more integrated planning and design in order to maintain efficient and sustainable land use.

BackgroundMicrovascular manifestations of antiphospholipid antibody syndrome in the kidneys include acute renal failure, thrombotic microangiopathy and hypertension. Therapy has been largely empiric.Case reportA 49-year-old Chinese man presented with anuric acute renal failure without abundant proteinuria and heavy haematuria, but markedly low levels of urinary sodium, potassium and chlorine upon admission. On day 1 of hospitalization, his thrombocytopenia, anaemia and renal failure showed rapid progression. The presence of lupus anticoagulant and vascular ischaemia of the small vessels in renal arteriography were also observed. Anticoagulants, continuous renal replacement therapy, glucocorticoids and six sessions of plasma exchange were started. After the fourth plasma exchange (on day 20), his urine output increased and began to normalize. On day 25, haemodialysis was stopped and his general condition gradually improved. A renal biopsy was subsequently performed, and the histopathological diagnosis was thrombotic microangiopathy due to antiphospholipid antibody syndrome. A further 3-year follow-up showed that his haemoglobin level, platelet count and serum creatinine were within the normal range, with stable blood pressure.ConclusionTreatment modalities such as anticoagulation, immunosuppression and plasma exchange are likely to be necessary when severe acute renal failure combined with thrombotic microangiopathy present in nephropathy of antiphospholipid antibody syndrome.

Background: Adult secondary hemophagocytic lymphohistiocytosis (HLH) is a potentially life-threatening syndrome characterized by excessive activation of mononuclear-phagocytic system result...

Primary biliary cholangitis (PBC) is an autoimmune disease characterized by chronic destruction of the bile ducts. A major unanswered question regarding the pathogenesis of PBC is the precise mechanisms of small bile duct injury. Emperipolesis is one of cell‐in‐cell structures that is a potential histological hallmark associated with chronic hepatitis B. This study aimed to clarify the pathogenesis and characteristics of emperipolesis in PBC liver injury. Sixty‐six PBC patients, diagnosed by liver biopsy combined with laboratory test, were divided into early‐stage PBC (stages I and II, n = 39) and late‐stage PBC (stages III and IV, n = 27). Emperipolesis was measured in liver sections stained with haematoxylin‐eosin. The expressions of CK19, CD3, CD4, CD8, CD20, Ki67 and apoptosis of BECs were evaluated by immunohistochemistry or immunofluorescence double labelling. Emperipolesis was observed in 62.1% of patients with PBC, and BECs were predominantly host cells. The number of infiltrating CD3+ and CD8+ T cells correlated with the advancement of emperipolesis (R 2 = 0.318, P

Objectives To analysis the pathological spectrum and prognosis of monoclonal gammopathy of renal significance (MGRS) patients. Methods Patients with renal biopsy-proven MGRS from 1999 to 2017 in Peking University First Hospital were included, clinical data, renal pathology type, treatment and prognosis were collected. Results One hundred and eighty-seven patients were enrolled, accounting for 0.7% of renal biopsies. Seventy-seven per cent of the MGRS patients were amyloidosis. Eighteen patients (9.6%) were monoclonal immunoglobulin deposition disease. Others included 10 patients (5.3%) with proliferative glomerulonephritis with monoclonal immunoglobulin (G) deposits, seven patients (3.7%) with cryoglobulinaemic glomerulonephritis, five patients (2.6%) with light chain proximal tubulopathy, two patients (1.1%) with fibrillary disease and one patient (0.5%) with C3 glomerulonephritis. Sixty-three per cent were treated with chemotherapy and/or stem cell transplantation. The mean follow-up time was 27 ± 32 months. One patient developed multiple myeloma at 17-month during follow-up. At the end of follow-up, 61 patients (33%) died, and 47 patients (25%) reached end-stage renal disease (ESRD). For the 144 amyloid patients, low estimated glomerular filtration rate (eGFR), decreased blood pressure, presence of cardiac involvement and absence of chemotherapy or high-dose melphalan/autologous peripheral blood stem cell transplantation were identified as independent risk factors for death. Low eGFR, decreased blood pressure, and presence of cardiac involvement were identified as independent risk factors for ESRD. For the 43 non-amyloid patients, no factor was identified for the risk of death. Low eGFR was identified as independent risk factor for ESRD. Conclusion MGRS was an uncommon form of hematologic disorder related renal injury with a wide spectrum of pathologic lesions, and amyloidosis was the most common type. Treatment with chemotherapy and/or high-dose melphalan/autologous peripheral blood stem cell transplantation improved amyloid patients' survival.

Background Proliferative glomerulonephritis with monoclonal Immunoglobulin (G) deposits (PGNMID) is a rare kind of MGRS with intact monoclonal IgG deposition. Seventy percent of PGNMID patients were negative for M-spike. Case presentation A 51-year-old Chinese woman presented with 16-month history of chronic nephritic syndrome. Her first biopsy showed a MPGN pattern, and the IF showed polyclonal IgG deposition but with IgG3λ dominance, MGRS was highly suspected. But the serum/urine IFE and bone marrow examination was negative for monoclonal gammopathy. She was treated with RAS inhibitors, and monitored carefully in the outpatient clinic. When the proteinuria was not controlled by RAS inhibitors, immunosuppressive agents were initiated. The second biopsy was done due to her acute kidney injury 9 months later, showing a MPGN pattern with acute tubulointerstitial disease, but the IF showed monoclonal IgG3λ deposition. The κ light chain, IgG1, IgG2 and IgG4 were absent. Electron microscopic examination revealed electron-dense deposits in the mesangial, subendothelial and subepithelial area which is the same as the first renal biopsy. The final diagnose of this patient was PGNMID (IgG3λ) with non-organized deposits. Repeated serum/urine IFE and free light chain still failed to identify monoclonal gammopathy. The patient was treated with steroid and cyclophosphamide, and her serum creatinine decreased. Conclusions Some of the PGNMID patients may be derived from polyclonal immune complex mediated glomerulonephritis.

Background Long-term exposure of mercury may induce glomerulonephritis. Clinical and pathological features of mercury-associated glomerulonephritis are not fully clear. This study retrospectively analyzed 35 cases of mercury-associated glomerulonephritis in a single Chinese center. Methods Thirty-five patients of mercury-associated glomerulonephritis were enrolled. Clinical data on diagnosis and during follow-up were collected. Plasma anti-phospholipase A2 receptor (PLA2R) antibody, glomerular PLA2R and glomerular IgG subclasses deposition were detected in the cases with membranous nephropathy (MN). Results Mercury exposure was caused by skin lighting cream (20 patients), mercury-containing pills (9 patients), hair-dyeing agents (4 patients), and unidentified reasons (2 patients). All patients presented with proteinuria and normal renal function. The median of urinary protein was 4.6 (range 1.6~19.7) g/24 h. Twenty-two patients (62.9%) had nephrotic syndrome. Renal histopathology showed minimal change disease (MCD) in 21 patients (60.0%), MN in 13 (37.1%) and focal segmental glomerular sclerosis (FSGS) in 1 patient (2.9%). The proportion of MCD increased along with urinary mercury concentration (P = 0.024). In 13 cases of MN, all patients were negative for plasma anti-PLA2R antibody and glomerular PLA2R antigen. IgG1 (61.5%) and IgG4 (46.2%) deposits were noted along the glomerular capillary loops. Among the 16 patients received mercury detoxification monotherapy, 14 patients received 4.5 ± 2.8 (range 1~12) rounds of regimen and achieved complete remission in 4.5 (range 0.3~23.0) months, 2 patients stayed no remission. Conclusions MCD was the most common pathological type of mercury-associated glomerulonephritis, followed by MN. The proportion of MCD increased along with the increase of urinary mercury concentration. Most patients could achieve complete remission after mercury detoxification.

Rationale: Glomerulonephritis triggered by a chronically infected graft is increasingly identified because of widely used implanted device. Removal of the aortic graft and sustained antibiotic therapy is the usual approach to maximize the chance of renal recovery, but as this case shows graft removal is not always possible. Patient concerns: A 35-year-old man with intractable and recurrent fever had acute renal failure in sustained antibiotic therapy. Diagnoses: Renal biopsy suggested crescentic glomerulonephritis. 18fluorodeoxyglucose/positron emission tomography–computed tomography showed increased metabolic activity at the site of aortic graft, reminding that chronic infection of an implanted graft can lead to severe glomerulonephritis. TGFBR2 c.1133G>T mutation was observed in mutation analysis, which was reported to be associated with Loeys–Dietz syndrome. Interventions: Although infection was properly controlled with appropriate antimicrobial treatment, his renal dysfunction did not improve. A short-term inclusion of low-dose corticosteroid significantly benefit without introducing harm. Outcomes: He partly recovered from renal injury. Lessons: In patients with glomerulonephritis triggered by a long-duration infection, low-dose corticosteroid therapy may be considered when renal dysfunction secondary to nephritis does not improve after appropriate antimicrobial treatment.

Type 2 diabetic patients are becoming younger and having a tendency to family aggregation, they are easily suspected as maturity-onset diabetes of young (MODY) in the outpatient clinic and send to genetic testing. 9 diabetic families were compared in our outpatient clinic who met the primary diagnosis criteria of MODY. Detailed clinical features and laboratory data including gene sequence were collected and analyzed. The patients met the primary clinical diagnostic criteria of MODY for genetic testing at the first look. However, members of families A1 to A3 had normal Body mass index (BMI) and a lower C-peptide level which indicated impaired pancreatic islet function. In contrast, the members with diabetes of families B1 to B6 had normal or increased C-peptide level which indicated insulin resistance and were overweight with BMI. Genetic testing showed that the mutations in HNF1A, INS, KCNJ11 and so on in families A were consistent with the diagnosis of MODY. No pathogenic mutation was found in the members of families B which were diagnosed with familial T2D. Before the clinical laboratory testing and the further gene test, BMI and the concentration of C-peptide are important for the promptly differential diagnosis of MODY from familial type 2 diabetes and medication instruction in the outpatient clinic which could help to alleviate the burden of genetic testing for them.

Background Monoclonal gammopathy of renal significance (MGRS) is a recently defined group of renal diseases caused by monoclonal immunoglobulin secreted by nonmalignant proliferative B cell or plasma cell. Monoclonal immunoglobulin can form different types of structures deposited in renal tissue, including fibrils, granules, microtubules, crystals and casts, and has mostly been reported in multiple myeloma patients. Here we report a rare case with κ light chain crystals in both podocytes and tubular epithelial cells associated with MGRS, which adds more information to the spectrum of MGRS-related renal diseases. Case presentation A 53-year old woman presented with albumin–predominant moderate proteinuria and renal failure. She had monoclonal IgGκ in the serum and monoclonal IgGκ plus free κ in the urine. Multiple myeloma and lymphoproliferative disorders were excluded. Renal biopsy confirmed κ-restricted crystal-storing renal disease involving the podocytes and proximal tubular epithelial cells. The patient was treated with bortezomib followed by lenalidomide-based chemotherapy, and renal function was stable after 1 year of follow-up. Conclusions This is a rare case of combined crystalline podocytopathy and tubulopathy associated with MGRS, in which diagnosis was dependent on electron and immuno-electron microscopy.

Background In leprosy, oral health is often neglected and poorly understood. This study aimed to evaluate the prevalence and risk indicators of dental caries in patients with leprosy in China. Methods This cross-sectional, multicentre study included 613 patients with leprosy and 602 control subjects. Based on the established standards of the World Health Organization, we investigated dental caries in cluster samplings from six so-called ‘leprosy villages’ in three Chinese provinces. Clinical oral examinations were performed and data were reported as decayed (D), missing (M) and filled (F) teeth (DMFT scores). Results The average DMFT scores were 10.39 in patients with leprosy (D = 4.43; M = 5.94; and F = 0.02) and 4.39 in control individuals (D = 2.29; M = 2.02; F = 0.08). The DMFT scores were statistically significantly different in patients with different ages, educational backgrounds and daily brushing frequency (P

Background Haemophagocytic lymphohistiocytosis (HLH) is a rare clinical syndrome characterised by activation of the mononuclear phagocytic system, and often leads to progressive multiple organ failure. The diagnosis of HLH is made late by most physicians. Methods To confirm the diagnosis of acquired HLH made in a single-institution series of adult patients with HLH-04 criteria, we applied the HScore and evaluated prognostic factors associated with clinical outcome. Results A total of 174 patients with a median age of 51 years (range 17-90) were included. Male/female ratio was 111/63. In 92/174 (52.9%) patients, there were potential haematological diseases (4 acute leukaemia, 1 thrombotic thrombocytopenic purpura, 3 Hodgkin's lymphoma [HL], 17 B-cell non-Hodgkin's lymphoma [NHL], 67 T-cell NHL including 22 natural killer / T-cell NHL [NK/t-cell NHL). Six (3.4%) patients had autoimmune disease and 76 (43.7%) undiagnosed underlying disease. There were 44 (25.3%) patients with Epstein-Barr virus infection, 11 (6.3%) with cytomegalovirus, 1 (0.5%) syphilis, 9 (5.2%) hepatitis B virus and 3 (1.7%) human immunodeficiency virus. More than 95% of patients had hyperferritinaemia, high lactate dehydrogenase, fever and low albumin, whereas 89.1% of patients had bone marrow phagocytosis. By the HScore, 4/174 patients had a >50% and 16/174 patients had a >90% probability of not having HLH. All 174 patients fulfilled more than five of the HLH-04 diagnostic criteria, but 16 of them had a low probability of HLH by the HScore. In a multivariate analysis, lymphopenia and hypofibrinogenaemia were independent prognostic factors for death. Conclusion In our study, viral infection was not an independent prognostic factor. NK/T-cell -NHL was associated with worse prognosis compared with B-cell NHL and T-cell NHL (p = 0.036) and similar to other aetiologies.