Tip variant of focal segmental glomerulosclerosis: is it truly a benign variant?

Abstract

Background: Even though frequently described as a benign entity, the outcomes of the tip variant of focal segmental glomerulosclerosis (FSGS) have proven to be unclear. Methods: This retrospective study includes a cohort of tip variant cases who presented to us from 2009 to 2012 and the analysis of their presenting clinical, histopathological features and treatment outcomes in comparison to the not otherwise specified (NOS) variants from our center in East India. Results: Of the 224 biopsies of primary FSGS, 30 cases were the tip variant (13.39%). The mean age of presentation was around 29 years, with 57% being males. A nephrotic presentation was seen in 87% of cases, with 20% showing a presentation at <18 years of age for the first time. Global sclerosis, interstitial fibrosis, tubular atrophy and arteriolar hyalinosis were seen more commonly in the NOS variant. Twenty five patients of tip variant received steroid therapy and eight received alternative immunosuppression. Around 87% of the tip variant cases achieved some form of remission in proteinuria and 13.3% had a doubling of creatinine at a median follow-up of 2 years in comparison to NOS group in which 80% achieved some form of remission and 20% had a doubling of creatinine. Conclusion: Though the histopathological features and treatment responsiveness of the tip variant appear to be better than the NOS variety, the prognostic outcome does not seem to be as favorable as implicated previously with an important percentage of patients showing progressive worsening of renal function within a relatively short time span (2 years) in our cohort.     

Radiographic analysis of type II odontoid fractures in a geriatric patient population: description and pathomechanism of the ��Geier��-deformity

Introduction  

Type II odontoid fractures are one among the most common cervical spine fractures in the elders. We reviewed a consecutive series of patients, aged 65 years and older, presenting to our institution with type II odontoid fractures. Our analysis focused on the radiographic outcome, union rate and the development of cervical spine postural deformity.     

Arm rotated medially with supination – the ARMS variant: description of its surgical correction

Background  

Patients who have suffered obstetric brachial plexus injury (OBPI) have a high incidence of musculoskeletal complications stemming from the initial nerve injury. The presence of muscle imbalances and contractures leads to typical bony changes affecting the shoulder, including the SHEAR (Scapular Hypoplasia, Elevation and Rotation) deformity. The SHEAR deformity commonly occurs in conjunction with Medial Rotation Contracture (MRC) of the arm. OBPI also causes muscle imbalances at the level of the forearm, that lead to a fixed supination deformity (SD) in a small number of patients. Both MRC and SD will cause severe functional limitations without surgical intervention.     

Arthrodesis of the distal interphalangeal joint: description of a new technique and clinical follow-up at 2 years

INTRODUCTION: Arthrodesis of the distal interphalangeal joint (DIPJ) is an accepted operative procedure to treat osteoarthritis, instability and joint deformity. There is a wide spectrum of recommended operative techniques including cerclage wires, headless screws, bio-resorbable pins and lag screws. Lag screw fixation remains one of the most accepted methods of fixation; however, problems can occur in particular subsidence of the screw head leading to loss of compression and prominence of the screw head in the finger tip necessitating removal. We describe here a new technique of DIPJ arthrodesis that avoids these problems. METHODS AND PATIENTS: The technique is described here in detail, and clinical results are given for 18 joints (17 patients) followed-up at a mean 24 months (range 6-44). RESULTS: Mean post-operative DASH score was 15. There were no cases of non-union; only four complications were seen, one case of nail growth disturbance and one of early screw breakage necessitating revision. Two infections necessitated early hardware removal although both arthodesis were united. CONCLUSION: The technique is simple and reliable giving consistent clinical results.     

An anatomical study of corona mortis and its clinical significance

Objective: To provide detailed information of corona mortis for ilioinguinal approach as an anterior approach to the acetabulum and pelvis. Methods: The course, branches and distribution of the vascular connection between the obturator system and the external iliac or inferior epigastric systems located over the superior pubic ramus were observed on 50 hemipelvises with intact soft tissues. Results：During the dissections, 72 % of the cadavericsides had at least one communicating vessel between the obturator system and the external lilac or inferior epigastric systems on the superior pubic ramus. The average diameter of the connecting vessel was 2.6 nun (range, 2.0-4.2 mm). It coursed over the superior pubic ramus or iliopubic eminence vertically to enter the obturator foramen and exit the pelvis. The average distance from pubic symphysis to the vascular connections between the obturator and external iliac systems was 52 nun ( range, 38-68 ram). Conclusions: Vascular connections between the obturator system and the external iliac or inferior epigastric systems were found over the superior pubic ramus with a high incidence. They are prone to damage during the ilioinguinal approach as an anterior approach to the acetabulum and pelvis. Thus, corona mortis located over the superior pubic ramus deserves great attention during the ilioinguinal approach.     

Demethylation of the γ-synuclein gene CpG island in colorectal cancer and its clinical significance

Objective To explore the relationship between γ-synuclein gene expression and CpG island demethylation in colorectal cancer (CRC), and the relationship between the demethylation and clinicopathological factors of CRC. Methods The expression of γ-synuclein mRNA was examined in 30 pairs of tumor tissues and tumor-matched non-neoplastic adjacent tissues (NNAT) by RT-PCR.CRC cell lines including COLO205, LoVo, and SW480 were used and treated with a demethylating agent, 5-aza-2'-deoxycytidine (5-aza-C). Before and after the treatment, the expression of γ-synuclein mRNA in the cells was determined by RT-PCR, and bisulfite sequencing PCR was also used to analyze methylation status of CpG island. The methylation status of γ-synuclein was then examined in 67 CRC samples and 30 NNAT samples by nested methylation-specific PCR (NMSP) and real time methylationspecific PCR (real-time MSP). The relationship between the demethylation of γ-synuclein in CRC and clinicopathological factors was analyzed. Results The mean γ-synuclein mRNA expression was 0.66±0.34 in CRC samples, which was much higher than 0.45±0.26 in NNAT samples (P=0.011). 5-aza-C could induce expression and demethylation of γ-synuclein in COLO205, LoVo and SW480 cells. Γ-Synuclein gene was demethylated in 80.0%(24/30) of the CRC samples and 50.0%(15/30) of the NNAT samples.The demethylated status of γ-synuclein was much higher in CRC samples than that in NNAT samples (P=0.030), and was significantly correlated with clinical stage, lymph node involvement, and distant metastasis of CRC (P＜0.05). Conclusion The upregulation of γ-synuclein expression in CRC is primarily attributed to the demethylation of CpG island, which may be used as a marker for prognosis.     

Demethylation of the γ-synuclein gene CpG island in colorectal cancer and its clinical significance

Objective To explore the relationship between γ-synuclein gene expression and CpG island demethylation in colorectal cancer (CRC), and the relationship between the demethylation and clinicopathological factors of CRC. Methods The expression of γ-synuclein mRNA was examined in 30 pairs of tumor tissues and tumor-matched non-neoplastic adjacent tissues (NNAT) by RT-PCR.CRC cell lines including COLO205, LoVo, and SW480 were used and treated with a demethylating agent, 5-aza-2'-deoxycytidine (5-aza-C). Before and after the treatment, the expression of γ-synuclein mRNA in the cells was determined by RT-PCR, and bisulfite sequencing PCR was also used to analyze methylation status of CpG island. The methylation status of γ-synuclein was then examined in 67 CRC samples and 30 NNAT samples by nested methylation-specific PCR (NMSP) and real time methylationspecific PCR (real-time MSP). The relationship between the demethylation of γ-synuclein in CRC and clinicopathological factors was analyzed. Results The mean γ-synuclein mRNA expression was 0.66±0.34 in CRC samples, which was much higher than 0.45±0.26 in NNAT samples (P=0.011). 5-aza-C could induce expression and demethylation of γ-synuclein in COLO205, LoVo and SW480 cells. Γ-Synuclein gene was demethylated in 80.0%(24/30) of the CRC samples and 50.0%(15/30) of the NNAT samples.The demethylated status of γ-synuclein was much higher in CRC samples than that in NNAT samples (P=0.030), and was significantly correlated with clinical stage, lymph node involvement, and distant metastasis of CRC (P＜0.05). Conclusion The upregulation of γ-synuclein expression in CRC is primarily attributed to the demethylation of CpG island, which may be used as a marker for prognosis.     

Expression and clinical significance of FPARγ and β-catenin in breast cancer

Objective To study the expression of peroxisome proliferator-activated receptor γ (PPARγ) and β-catenin in breast cancer, and their correlations with clinicopathological parameters and prognosis. Methods Tissue samples obtained from 70 patients with breast cancer and 20 patients with breast benign mass were immunohistochemically examined for the expression of PPARγ and p-catenin. Results Overexpression rate of PPARγ protein was 34. 3% in breast cancer, significantly lower than that in breast benign mass. Abnormal expression rate of β-catenin in breast cancer was 67. 1%. A significant negative-correlation was found between the expression of PPARγ and β-catenin (r=-0. 398,P<0.05 ). PPARγ expression was inversely associated with histologic grade, tumor size, axillary lymph node metastasis,TNM stage and Ki-67 expression (P<0. 05), while positively correlated with ER status and overall survival rate (P<0. 05). Abnormal β-catenin expression was positively associated with histologic grade, axillary lymph node metastasis and TNM stage (P<0. 05), while inversely correlated with overall survival rate (P<0.05). Conclusion PPARγ and β-catenin are correlated with development of breast carcinoma,suggesting that detection of PPARγ and β-catenin may be of value in evaluating the biological behaviors and the prognosis of breast cancer.     

Expression of DNApolβ and ferritin in gallbladder malignancy and its clinical significance

DNApolβ和FT与肿瘤发生、进展及预后等密切相关[1,2].作者应用EnvisionTM免疫组化法研究胆囊腺癌、慢性胆囊炎和胆囊结石组织DNApolβ和FT表达水平,探讨两者表达的临床病理意义.     

Expression of DNApolβ and ferritin in gallbladder malignancy and its clinical significance

DNApolβ和FT与肿瘤发生、进展及预后等密切相关[1,2].作者应用EnvisionTM免疫组化法研究胆囊腺癌、慢性胆囊炎和胆囊结石组织DNApolβ和FT表达水平,探讨两者表达的临床病理意义.     

Detection and clinical significance of phospholipase A2 in semen of infertile males

Objective: To explore the clinical significance of anti-human seminal plasma phospholipase A2 (PLA2) monoclonal antibody (McAb) in male infertility. Methods: Enzyme-linked immunoabsorbent assay (ELISA), immunocytochemistry (ICC), and flow cytometry (FCM) analysis were employed using two strains of anti-human seminal plasma PLA2 McAb prepared by this laboratory to detect the PLA2 content in the seminal plasma and the anterior head region of spermatozoa in infertile patients and normal fertile controls. Seminal routine observation was performed with computer-assisted semen analysis (CASA). Results: The PLA2 level of the infertile groups was (31.13±14.49) ng/mL in azoospermic patients, (17.71±12.45) ng/mL in oligozoospermic patients and (16.46±11.31) ng/mL in patients with normal sperm density, which were all higher than that of normal controls [(8.09±3.15) ng/mL, P <0.01]. There was a significant negative correlation between the PLA2 content in seminal plasma and the sperm density (r=-0.602, P<0.05), w     

Comparison of clinical outcome and urodynamic findings using ��Perigee and/or Apogee�� versus ��Prolift anterior and/or posterior�� system devices for the treatment of pelvic organ prolapse

Introduction and hypothesis  

This study aims to compare clinical outcome using the Perigee/Apogee? vs. Prolift? devices for the treatment of pelvic organ prolapse (POP).     

Dent��s disease: clinical features and molecular basis

Dent’s disease is an X-linked recessive renal tubulopathy characterized by low-molecular-weight proteinuria (LMWP), hypercalciuria, nephrocalcinosis, nephrolithiasis, and progressive renal failure. LMWP is the most constant feature, while the other clinical manifestations show wide variability. Patients also present variable manifestations of proximal tubule dysfunctions, such as aminoaciduria, glucosuria, hyperphosphaturia, kaliuresis, and uricosuria, consistent with renal Fanconi syndrome. Dent’s disease affects mainly male children, and female carriers are generally asymptomatic. In two-thirds of patients, the disease is caused by mutations in the CLCN5 gene, which encodes the electrogenic chloride/proton exchanger ClC-5. A few patients have mutations in OCRL1, the gene associated with the oculocerebrorenal syndrome of Lowe, which encodes a phosphatidylinositol-4,5-biphosphate-5-phosphatase (OCRL1). Both ClC-5 and OCRL1 are involved in the endocytic pathway for reabsorption of LMW proteins in the proximal tubule. This review will provide an overview of the important phenotypic characteristics of Dent’s disease and summarize the molecular data that have significantly increased our comprehension of the mechanisms causing this disease.     

Follicular neoplasms of the thyroid: predictors of malignancy?

Follicular neoplasms of the thyroid present a therapeutic challenge. Initial limited thyroidectomy may result in some patients requiring completion thyroidectomy for malignancy. In the current study we examined age, gender, race, time from nodule discovery to operation in months, history of radiation exposure, tumor size (cm), and cell type in patients with follicular neoplasms identified at the time of thyroidectomy in two socioeconomically diverse settings from 1993 through 2000 to identify possible factors associated with a greater chance of malignancy. Of 36 follicular lesions identified in 35 patients seven (19%) were malignant on permanent section. Hurthle cell histology was present in six of 36 lesions. Mean age of patients with benign lesions was 47 +/- 13 versus 50 +/- 15 in malignant cases (P > 0.05). Benign lesions measured 2.6 +/- 1.2 cm versus 3.1 +/- 1.7 cm in malignant (P > 0.05). Other factors found not to be significant included gender and time nodule was present (12.8 +/- 19 months benign vs 11.8 +/- 20 months malignant) (P > 0.05). Hurthle cell histology was associated with a 50 per cent malignancy rate (three of six) versus 13 per cent (four of 30) with non-Hurthle cell histology (P < 0.05). Two patients with exposure to radiation fallout had malignancies in lesions of one and 2 cm (P < 0.05). Patients from a socioeconomically disadvantaged setting had a malignancy rate of 50 per cent (six of 12) compared with a malignancy rate of 3 per cent (one of 24) from a socioeconomically affluent population (P < 0.05). In conclusion Hurthle cell histology and exposure to radiation fallout were associated with significantly higher rates of malignancy in follicular neoplasms and should be taken into account when deciding on the initial extent of thyroidectomy. The difference in malignancy rates observed between socioeconomic settings while significant requires further investigation.     

Incidence and significance of femoral neck narrowing in the first 500 Conserve® Plus series of hip resurfacing cases: a clinical and histologic study

Narrowing of the femoral neck after metal-on-metal hip resurfacing arthoplasty has been reported as a common radiologic feature, although its significance is still unknown. This study reports the presence and significance of neck narrowing in the first 500 consecutive Conserve? Plus metal-on-metal hip resurfacings in 431 patients.     

Incidental carcinoma of the prostate: can we and should we recommend radical prostatectomy?

INTRODUCTION: There is controversy regarding tumor control of incidental prostate cancer (PC). We evaluated in a large cohort if we can recommend radical prostatectomy after TURP. MATERIAL AND METHOD: In 52 (4.3%) from a total of 1207 patients undergoing radical prostatectomy the diagnosis had been made by TURP. In a retrospective analysis we evaluated morbidity, histopathological results, and tumor control of pT1a/b tumors. RESULTS: The number of incidentally detected PC decreased with time. In 5.8% in the TURP group and in 0.5% of the needle biopsy group, there was no residual tumor found (p<0.001). Morbidity was similar +/- TURP with the exception of operation time (206 vs 188 min) and catheter duration (19.3 vs 17.3 days). Postoperative continence was identical. There was no difference in tumor control for local recurrence-free survival and PSA-free survival with and without TURP. CONCLUSIONS: The rate of incidentally detected PC by TURP decreases over time, but in almost all cases we found clinically relevant cancer. TURP is not an adverse prognostic factor and morbidity is similar compared with patients who were diagnosed by needle biopsy. Our data confirm that we should recommend radical prostatectomy to patients who are candidates for further curative therapy.     

The clinical significance of the American College of Radiology (ACR) Thyroid Imaging Reporting and Data System (TI-RADS) category 5 thyroid nodules: Not as risky as we think?

BackgroundAlthough the prevalence of thyroid nodules is high, few prove to be malignant. Based on sonographic features, the American College of Radiology Thyroid Imaging Reporting and Data System categorizes malignancy risk of thyroid nodules with associated management recommendations for each category level. Malignancy rates among nodules with a highly suspicious Thyroid Imaging Reporting and Data System category 5 warrant examination in the context of additional risk stratification tools, including cytopathology and molecular testing.MethodsAll patients who underwent fine-needle aspiration biopsy for Thyroid Imaging Reporting and Data System category 5 nodules from January 2018 to September 2021 in a large integrated academic health system were reviewed. Using the Bethesda System for Reporting Thyroid Cytopathology, categories V and VI were set as malignant. Molecular testing (ThyroSeq version 3; Rye Brook, NY) yielding ≥50% risk of malignancy was deemed positive and correlated with surgical pathology.ResultsA total of 496 Thyroid Imaging Reporting and Data System category 5 nodules were identified. On fine-needle aspiration cytopathology, 61 (12.3%) were malignant. The breakdown included Bethesda System for Reporting Thyroid Cytopathology I, 15 (3%); II, 362 (73%); III, 52 (10.5%); IV, 5 (1%); V, 6 (1.3%); and VI, 55 (11.1%). Of Bethesda System for Reporting Thyroid Cytopathology III/IV nodules with molecular testing (n = 53), 24.5% yielded positive results. In total, 42 (8.5%) nodules underwent surgical resection, most of which were Bethesda System for Reporting Thyroid Cytopathology VI (n = 26, 61.9%). Of excised nodules, 33 (78.6%) nodules were malignant, 6 (14.3%) benign, and 3 (7.1%) noninvasive follicular thyroid neoplasm with papillary-like nuclear features. All Thyroid Imaging Reporting and Data System category 5 nodules with malignant cytology (Bethesda System for Reporting Thyroid Cytopathology V/VI) that underwent surgery were malignant on histopathology. On average, the total Thyroid Imaging Reporting and Data System points were higher in malignant nodules compared with benign (9.3 vs 7.3; P = .015). Moreover, benign nodules more frequently received Thyroid Imaging Reporting and Data System points when the radiologist was unable to determine composition or echogenicity (33% vs 3% among malignant nodules; P = .01).ConclusionThyroid Imaging Reporting and Data System category 5 designation in thyroid nodules is associated with a lower risk of malignancy than previously reported. Benign and malignant nodules with Thyroid Imaging Reporting and Data System category 5 designation have discrepancies in certain Thyroid Imaging Reporting and Data System characteristics and individual points assigned, which may offer an opportunity for quality improvement and standardization measures in ultrasound reporting practices.