Volume control associated with better cardiac function in long-term peritoneal dialysis patients.

BACKGROUND: This study was undertaken to investigate the effect of long-term blood pressure (BP) reduction, achieved with salt restriction and strict volume control, on frequency and regression of left ventricular hypertrophy (LVH) in long-term peritoneal dialysis (PD) patients. METHODS: 56 patients who had been treated for more than 2 years under our care were enrolled. After echocardiographic (Echo) evaluation, 46 patients were included in the follow-up study. In our unit, we aim to keep patients' BP below 130/85 mmHg and cardiothoracic index below 0.50. To reach these targets, moderate salt restriction is advised, and if necessary, hypertonic PD solutions are used. Echo was performed at the beginning of the study (after a mean period of 36 months on PD) and at the end of the prospective follow-up period (24 months later). RESULTS: At the time of the first Echo, LVH was detected in only 8 (21%) patients. Residual urine volume was significantly decreased compared to data taken when they first started PD (658 +/- 795 vs 236 +/- 307 mL/day). Mean left ventricular mass index (LVMI) was 107 +/- 26.5 g/m2. LVMI was significantly decreased at the end of the follow-up in patients who had LVH at baseline. No LVH developed in patients who had normal LVMI at baseline. CONCLUSION: Our results indicate that control of hypertension is possible when extracellular fluid volume is kept under control using hypertonic PD solutions in case of recruitment in addition to salt restriction in long-term PD patients. Sustained normovolemia is associated with low incidence and regression of LVH.     

Mucinous adenocarcinoma arising from chronic perianal fistula

Perianal mucinous adenocarcinoma is a rare tumour which may be associated with long‐standing chronic perianal sepsis. Early diagnosis is challenging and is based on a high index of clinical suspicion and specific histological features. Definitive treatment is surgical, in the form of an abdomino‐perineal resection. We hereby describe a case of a perianal mucinous adenocarcinoma arising from long‐standing recurrent perianal fistula and complement this with a brief review of the literature pertaining in particular to the management of this condition.     

Rheumatoid arthritis and membranoproliferative glomerulonephritis: an unusual case

SUMMARY: Renal involvement is not uncommon in rheumatoid arthritis (RA). Many RA patients have renal dysfunction either secondary to the drugs used to treat arthritis or because of the chronic inflammation. Renal pathologies have often included amyloidosis, drug-related renal disease and mesangial glomerulonephritis. However, membranoproliferative glomerulonephritis has only been rarely reported. We report a case of rheumatoid arthritis associated with membranoproliferative glomerulonephritis that rapidly progressed to end-stage renal disease.     

A ligamentum flavum hematoma presenting as an L5 radiculopathy.

This study reports two patients with ligamentum flavum hematoma, of which only seven cases have been reported in the literature. Two elderly male patients (74 and 80 years) presented with a history of chronic lumbar strain and effort. They had low back pain radiating to both legs. Their neurologic examination findings were consistent with left L5 root compression. Magnetic resonance imaging showed an epidural mass lesion at L4-L5 that was continuous with the ligamentum flavum. After removal of the hematoma, the symptoms completely resolved. The most common cystic lesion in the lumbar spine is synovial cyst associated with the facet joints, but ligamentum flavum hematoma should be included in the differential diagnosis. The clinical, radiological and surgical features are described. Surgery should be the treatment of choice to resolve symptoms in ligamentum flavum hematoma.     

Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients

Classical citrullinemia (CTLN1), a rare autosomal recessive disorder, is caused by mutations of the argininosuccinate synthetase (ASS) gene, localized on chromosome 9q34.1. ASS functions as a rate-limiting enzyme in the urea cycle. Previously, we identified 32 mutations in the ASS gene of CTLN1 patients mainly in Japan and the United States, and to date 34 different mutations have been described in 50 families worldwide. In the present study, we report ASS mutations detected in 35 additional CTLN1 families from 11 countries. By analyzing the entire coding sequence and the intron-exon boundaries of the ASS gene using RT-PCR and/or genomic DNA-PCR, we have identified 16 novel mutations (two different 1-bp deletions, a 67-bp insertion, and 13 missense) and have detected 12 known mutations. Altogether, 50 different mutations (seven deletion, three splice site, one duplication, two nonsense, and 37 missense) in 85 CTLN1 families were identified. On the basis of primary sequence comparisons with the crystal structure of E. coli ASS protein, it may be concluded that any of the 37 missense mutations found at 30 different positions led to structural and functional impairments of the human ASS protein. It has been found that three mutations are particularly frequent: IVS6-2A>G in 23 families (Japan: 20 and Korea: three), G390R in 18 families (Turkey: six, U.S.: five, Spain: three, Israel: one, Austria: one, Canada: one, and Bolivia: one), and R304W in 10 families (Japan: nine and Turkey: one). Most mutations of the ASS gene are "private" and are distributed throughout the gene, except for exons 5 and 12-14. It seems that the clinical course of the patients with truncated mutations or the G390R mutation is early-onset/severe. The phenotype of the patients with certain missense mutations (G362V or W179R) is more late-onset/mild. Eight patients with R86H, A118T, R265H, or K310R mutations were adult/late-onset and four of them showed severe symptoms during pregnancy or postpartum. However, it is still difficult to prove the genotype-phenotype correlation, because many patients were compound heterozygotes (with two different mutations), lived in different environments at the time of diagnosis, and/or had several treatment regimes or various knowledge of the disease.     

Rotavirus diarrhea in Bangladeshi children: correlation of disease severity with serotypes.

To improve the understanding of the relative importance of serotypes of rotavirus in dehydrating diarrhea, we examined the correlation of clinical characteristics and disease severity with serotype in 2,441 diarrheal episodes among children younger than 2 years of age in rural Bangladesh. Of 764 rotavirus-associated episodes, a single G type (serotype 1, 2, 3, or 4) was determined by oligonucleotide probe in 485 (63%), while 233 episodes were nontypeable. Episodes with G types 2 and 3 were associated with more-severe dehydration than episodes associated with G type 1 or 4 or with nontypeable rotavirus. Episodes did not differ by G type in prevalence of vomiting, copious diarrhea, fever, abdominal pain, or length of treatment center stay. Rotavirus reinfections were detected in seven children, with homologous reinfection (G type 2) in one. Twelve children with diarrhea who died had rotavirus detected in stool specimens within 30 days of death. Children who died were more likely to be malnourished than were surviving children with rotavirus diarrhea. Of 40 specimens tested by polymerase chain reaction, 29 (72.5%) were P type 1, 9 (22.5%) were P type 2, 1 (2.5%) was P type 3, and 1 (2.5%) was nontypeable. One severely symptomatic diarrheal episode was associated with P type 3 rotavirus, a serotype usually found in asymptomatic nursery infections. Although G types 2 and 3 were associated with more-severe dehydration than other serotypes, the differences do not appear to be of major clinical importance. Effective vaccines should protect against all four major G types.     

Is there any correlation between restriction fragment length polymorphism of the L-MYC gene and metastasis of human nonsmall cell lung cancer?

A potential molecular marker associated with cancer susceptibility as well as metastasis, prognosis and adverse survival, is the L-myc gene. The studies of lung cancer patients from different populations have yielded controversial results. We studied 64 nonsmall cell lung cancer (NSCLC) patients and 37 healthy controls of Turkish origin for L-myc gene polymorphism. Our aim was to test the hypothesis that there was association between L-myc S allele in NSCLC and predisposition to the disease and TNM stage indicating tumor size, node classification and metastasis. Polymerase chain reaction restriction fragment length polymorphism and agarose gel electrophoresis were used to determine the L-myc oncogene genotypes. We found no significant difference, both in the distribution of the LL, LS and SS genotypes and in the allelic frequencies, between the patient group and the control group; that is, the frequencies of L-myc alleles were, L and S, 0.59 and 0.41, 0.60 and 0.40, respectively. Our data between the patient group and the control group; that is, the frequencies of L-myc alleles were, L and S, 0.59 and 0.41, 0.60 and 0.40, respectively. Our data concerning age, sex, size of tumors, histological type of tumors showed no significant association with L-myc genotype. However, a higher frequency of L-myc S allele in the squamous cell carcinoma compared to other histological groups was found, although this difference was not statistically significant. No association was found between the L-myc RFLP and increased risk of metastasis either to the lymph nodes or to other organs. Our results suggested that L-myc gene polymorphism was not a suitable prognostic marker of metastatic development in Turkish NSCLC patients.     

3D-printed prostheses for large bone defect reconstruction following bone tumor surgery北大核心

BACKGROUND: Tumor segment resection is one of the standard methods for the treatment of bone tumors. However, the reconstruction of bone defects atumor resection faces many challenges. A growing number of researchers are focusing on 3D-printed prostheses for bone defect repair and reconstruction following bone tumor surgery. OBJECTIVE: To explore the feasibility of 3D-printed prostheses in the reconstruction of large bone defect following bone tumor surgery and to evaluate the postoperative outcomes. METHODS: Retrospective analysis of clinical data of 24 patients [19 males and 5 females, age 23.8 (6-61) years] who underwent bone tumor resection and 3D-printed prosthesis implantation in the Department of Bone Oncology, the First Affiliated Hospital of Xinjiang Medical University from December 2020 to September 2021 was conducted. There were 7 cases with distal femur tumor, 5 with pelvis tumor, 4 with proximal tibia tumor, 3 with middle femur tumor, 1 with distal tibia tumor, 1 with proximal humerus tumor, 1 with middle humerus tumor, 1 with scapula tumor, 1 with ulna tumor, and 22 cases with primary tumors (13 osteosarcoma, 4 Ewing sarcoma, 2 giant cell tumor of bone, 1 chondroblastoma, 1 chondrosarcoma, and 1 osteoblastoma), 2 metastatic carcinoma. Preoperative and postoperative imaging data were recorded and neoadjuvant chemotherapy was administered in 17 cases before surgery. The Musculoskeletal Tumour Society score was used to assess limb function before surgery and 6 months after surgery, and pain was assessed by the Visual Analog Scale, as well as the complications were recorded. RESULTS AND CONCLUSION: (1) All patients undergoing resection of the tumor segment and 3D-printed prosthesis implantation for the reconstruction of the bone defect were followed for 6-49 months, and the results showed that the length of osteotomy was (18.2 ± 7.3) cm and an average intraoperative bleeding volume was 740 (100-3 000) mL. (2) Two patients died of systemic metastasis, the remaining 22 had no pulmonary metastasis or recurrence during the follow-up period, and 1 patient developed aseptic loosening of the prosthesis at 25 months postoperatively. (3) The Musculoskeletal Tumour Society scores were significantly increased, while Visual Analog Scale scores were significantly decreased (P < 0.05) at 6 months postoperatively. (4) The Musculoskeletal Tumor Society score was rated excellent in all 22 patients at the final follow-up. (5) These results suggest that 3D-printed prosthesis is suitable for the reconstruction of large bone defects caused by bone tumor resection. Patients have good postoperative function and few complications. However, further investigations are needed to explore long-term follow-up results. © 2023, Publishing House of Chinese Journal of Tissue Engineering Research. All rights reserved.