Novel Mutations of Identified in Chinese Families with X-Linked Alport Syndrome and Literature Review.

Alport syndrome (AS) is an inherited kidney disease caused by defects in type IV collagen, which is characterized by hematuria, progressive nephritis or end-stage renal disease (ESRD), hearing loss, and occasionally ocular lesions. Approximately 80% of AS cases are caused by X-linked mutations in the gene. This study explored novel deletion and missense mutations in responsible for renal disorder in two Han Chinese families.

A Variant in the NEDD4L Gene Associates With Hypertension in Chronic Kidney Disease in the Southeastern Han Chinese Population.

Background: "Neuronal precursor cell expressed developmentally down-regulated 4-like" (NEDD4L) is considered a candidate gene for hypertension-both functionally and genetically-through the regulation of the ubiquitination of the epithelial sodium channel (ENaC). This study explores the relationship between genetic variation in NEDD4L and hypertension with chronic kidney disease (CKD) in the southeastern Han Chinese population.

Methods: We recruited 623 CKD patients and measured ambulatory blood pressure monitoring (ABPM), and the rs4149601 and rs2288774 polymorphisms in NEDD4L were genotyped using quantitative polymerase chain reaction.

Clonal evolution in a chronic neutrophilic leukemia patient.

Objectives and importance: Chronic neutrophilic leukemia (CNL) is a distinct myeloproliferative neoplasm with a high prevalence (>80%) of mutations in the colony-stimulating factor 3 receptor (CSF3R); these mutations activate the receptor, leading to the proliferation of neutrophils that are a hallmark of CNL. Clinical presentation: We present a male patient who presented peripheral blood leukocytosis. On the basis of his morphological appearances and molecular findings he was determined to have a diagnosis of chronic neutrophilic leukemia.

High serum IgA/C3 ratio better predicts a diagnosis of IgA nephropathy among primary glomerular nephropathy patients with proteinuria ≤ 1 g/d: an observational cross-sectional study.

Background: The serum immunoglobulin A (IgA)/C3 ratio is considered to be an effective predictor of IgA nephropathy (IgAN). This study sought to explore the diagnostic value of the IgA/C3 ratio in IgAN among primary glomerular nephropathy patients in China.

Methods: We recruited 1095 biopsy-diagnosed primary glomerular nephropathy patients, including 757 IgAN patients and 338 non-IgAN patients.

Syndrome of uremic encephalopathy and bilateral basal ganglia lesions in non-diabetic hemodialysis patient: a case report.

Background: Uremic encephalopathy (UE), a toxic metabolic encephalopathy, is an uncommon complication resulting from endogenous uremic toxins in patients with severe renal failure. UE syndrome can range from mild inattention to coma. The imaging findings of UE include cortical or subcortical involvement, basal ganglia involvement and white matter involvement.

Prevalence, determinants, and clinical significance of masked hypertension and white-coat hypertension in patients with chronic kidney disease.

Background: Masked hypertension and white-coat hypertension have been studied among the general population and in hypertensive patients. However, little insight is available on masked and white-coat hypertension among patients with chronic kidney disease (CKD).

Methods: We recruited 1322 CKD patients admitted to our hospital division.

High prevalence of isolated nocturnal hypertension in Chinese patients with chronic kidney disease.

Background: Isolated nocturnal hypertension (INH) has been studied among the general population and hypertensive patients. However, little insight is available on the prevalence of INH and its role in target-organ damage among patients with chronic kidney disease (CKD).

Methods And Results: We recruited 1282 CKD patients admitted to our hospital division.

Nocturnal Hypertension Correlates Better With Target Organ Damage in Patients With Chronic Kidney Disease than a Nondipping Pattern.

Both nocturnal hypertension and nondipping pattern are associated with target organ damages (TODs); however, no data exist with respect to Chinese patients with chronic kidney disease (CKD). The authors recruited 1322 patients with CKD admitted to our hospital division and referred with data in this cross-sectional study. Patients with nocturnal systolic hypertension had a lower estimated glomerular filtration rate (eGFR) and higher left ventricular mass index (LVMI) and carotid intima-media thickness (cIMT) compared with patients with normal nocturnal systolic blood pressure (SPB; all, P<.

Disparate assessment of clinic blood pressure and ambulatory blood pressure in differently aged patients with chronic kidney disease.

Background: Ambulatory blood pressure monitoring (ABPM) is recommended to assess hypertensive status in patients with chronic kidney disease (CKD). However, the difference in blood pressure (BP) based on clinic and ambulatory monitoring in CKD patients of different ages is not known.

Methods: We recruited 1116 CKD patients admitted to our hospital division and referred with data in this cross-sectional study.

The ambulatory arterial stiffness index and target-organ damage in Chinese patients with chronic kidney disease.

Background: The ambulatory arterial stiffness index (AASI) can be used to predict cardiovascular morbidity and mortality in hypertensive patients. However, data on AASI in Chinese patients with chronic kidney disease (CKD) is not available.

Methods: This cross-sectional study enrolled 583 CKD patients.

[Characteristics of fusion gene and immunophenotype in MLL gene rearrangement positive childhood acute lymphoblastic leukemia].

The study was aimed to investigate the fusion gene transcript and immunophenotypic characteristics of the mixed linage leukemia (MLL)-rearranged positive childhood acute lymphoblastic leukemia (ALL). The incidence of MLL rearrangement in 601 cases of ALL patients was detected by the multiple-nested polymerase chain reaction (PCR); the subtypes and features of the fusion gene transcript were analyzed by PCR products sequencing; the immunophenotypic characteristics at diagnosis were compared between the 22 MLL rearrangement positive of ALL patient, 30 negative control which selected randomly from the patients whose fusion gene could not be detected in the same term and 43 pro-B-ALL patients. The results showed that the incidence of MLL positive ALL was 3.

[Immunophenotypic characteristics of children with acute lymphoblastic leukemia carrying TEL-AML1 fusion gene].

To investigate the immunological and other clinical characteristics in TEL/AML1+ childhood B-acute lymphoblastic leukemia (B-ALL), immunophenotyping was performed with three-color flow cytometry, and the expression of TEL-AML1 fusion gene was detected with nested RT-PCR. Diagnosis was made according to FAB and MIC criteria. The results showed that (1) among 119 children with B-ALL, 22 (18.

[Expression of transporter associated with antigen processing (TAP) in childhood acute leukemia and its clinical significance].

Background & Objective: Transporter associated with antigen processing(TAP) participates in immune surveillance, so it is probably relevant to carcinogenesis. Investigation of expression of TAP and its clinical significance in childhood acute leukemia will be helpful to clarify pathogenesis and to develop immunotherapy strategy.

Methods: RT-PCR analysis was used to detect the expression of TAP1 and TAP2 in leukemia cells from bone marrow in 34 inpatients with primary acute lymphoblastic leukemia (ALL), 15 inpatients with relapsed ALL, 20 inpatients with acute medullary leukemia (AML), and 20 surgical inpatients without systematic disorders as control.