Kaposi sarcoma in a child after hematopoietic stem cell transplantation: Should pre-transplant HHV-8 screening be considered in recipients from high prevalence areas?

Kaposi sarcoma (KS) is an angioproliferative disease associated with human herpesvirus 8 (HHV-8). We report the case of a 10-year-old male from a high HHV-8 prevalence area, diagnosed with severe aplastic anemia who underwent an upfront hematopoietic stem cell transplantation (HSCT). Five months after transplant, the patient was diagnosed with KS with skin, mucosae, lymph nodes and lung involvement. After withdrawal of immunosuppression the patient achieved complete remission without requiring further treatments. KS may occur after HSCT in patients from high HHV-8 prevalence areas. Considering that, we propose that screening of HHV-8 by antibody testing could be considered in HSCT donors/recipients from these areas.

Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment.

Purpose: The aim of the present work is the molecular diagnosis of three patients with deafness and retinal degeneration. Methods: Three patients from two unrelated families were initially analyzed with custom gene panels for Usher genes, non-syndromic hearing loss, or inherited syndromic retinopathies and further investigated by means of clinical or whole exome sequencing. Results: The study allowed us to detect likely pathogenic variants in PEX6, a gene typically involved in peroxisomal biogenesis disorders (PBDs). Beside deaf-blindness, both families showed additional features: Siblings from Family 1 showed enamel alteration and abnormal peroxisome. In addition, the brother had mild neurodevelopmental delay and nephrolithiasis. The case II:1 from Family 2 showed intellectual disability, enamel alteration, and dysmorphism. Conclusions: We have reported three new cases with pathogenic variants in PEX6 presenting with milder forms of the Zellweger spectrum disorders (ZSD). The three cases showed distinct clinical features. Thus, expanding the phenotypic spectrum of PBDs and ascertaining exome sequencing is an effective strategy for an accurate diagnosis of clinically overlapping and genetically heterogeneous disorders such as deafness-blindness association.

Prospective randomized multicenter study to evaluate holmium vs. new thulium fiber laser for prostate enucleation.

BACKGROUND: Benign prostatic hyperplasia (BPH) commonly causes lower urinary tract symptoms (LUTS) in men. Holmium (HoLEP) and thulium (ThuLEP) laser enucleation are established techniques for BPH treatment. Thulium fiber laser (TFL) for prostate enucleation (ThuFLEP) shows promising outcomes. METHODS: A prospective randomized multicenter study was conducted. Patients with BPH and LUTS unresponsive to medical therapy were enrolled. Preoperative, surgical, perioperative and postoperative data were recorded with follow-up at 3 and 6 months. The primary outcome was functional improvement, and the secondary outcome was safety in terms of complications. RESULTS: Two hundred patients were included (HoLEP 100, ThuFLEP 100). No significant baseline difference was found between groups. At 3 and 6 months we found statistically significant improvements from baseline for both HoLEP and ThuFLEP in efficacy: International Prostatic Symptoms Score (IPSS), IPSS-Quality of Life (QoL), maximum urinary flow rate (Qmax), and post-void residual volume (PVR; P<0.05). At 6 months, mean±SD IPSS, IPSS-QoL, Qmax, and PVR for HoLEP vs. ThuFLEP were 5.8±4.9 vs. 4.8±5.0 points (P=0.57), 1.6±1.4 vs. 0.7±1.1 points (P=0.09), 29.9±12.5 vs. 29.6±8.0 mL/s (P=0.8), and 16.3±17.7 vs. 15.5±13.4 mL (P=0.92), respectively. No intraoperative complication was recorded. No Clavien-Dindo ≥III complications occurred during hospitalization. After 6 months, 8 (8%) and 6 (6%) patients reported mild stress urinary incontinence in HoLEP and ThuFLEP groups, respectively (P=0.24). Urethral stenosis was observed in 3 men (3%) in the HoLEP group and 1 subject (1%) in the ThuFLEP group (P=0.72). CONCLUSIONS: HoLEP and ThuFLEP are effective and safe for BPH treatment, with comparable functional outcomes and complication rates at 6 months. Further research is needed to confirm these findings.

Strict versus Liberal Use of Sentinel Node Biopsy in Breast Cancer Surgery: Any Clinical Outcome Differences? A 20-Year Clinical Experience.

Introduction: As applied to early breast cancer (BC) patients, sentinel node biopsy (SNB) has undergone major changes over the years, especially concerning the widening of indication criteria or skipping systematic axillary lymph node dissection (ALND) after a positive SN. We aimed to ascertain whether a strict versus a more liberal use of SNB resulted in different clinical outcomes in our clinical experience. Methods: We studied consecutive BC patients undergoing SNB between January 1, 2000, and March 31, 2020. There were 1,587 patients and 1,634 SNB procedures. Cases were divided into two study groups: the "strict" SNB group (unifocal tumors up to 35 mm in which ALND was always performed for a positive SN, amounting to 1,183 SNBs), and the "liberal" SNB group (extended tumor size up to selected T3 cases, as well as multifocal or bilateral disease, and patients with previous contralateral BC, not always followed by ALND after a positive SN, amounting to 451 SNBs). Patients were closely followed up to the end of the study. Results: Clinico-pathological variables were strikingly different between study groups, with the liberal group showing a higher risk profile. Cox regression analysis for disease recurrence did not show significant differences in axillary, lymph node, or locoregional recurrence rates or distant relapse. There were no differences in survival between groups. Conclusion: It seems reasonable to adopt the liberal SNB approach, as the goal of surgical management in early BC patients must be attaining optimal locoregional disease control, no matter the differences in distant metastatic spread rates across different BC risk profiles.

Comparison in Detection Rate of Clinically Significant Prostate Cancer Between Microultrasound-guided Prostate Biopsy (ExactVu) and Multiparametric Resonance Imaging-guided Prostate Biopsy (Koelis System).

OBJECTIVES: To compare the detection rate of clinically significant prostate cancer (csPC) and prostate cancer (PC) and to find out the diagnostic concordance between microultrasound (mUS), a high-resolution imaging system that can identify suspicious prostate lesions and biopsy them in real time, and multiparametric magnetic resonance imaging (mpMRI)-guided prostate fusion biopsies. METHODS: A prospective, multicenter, single-blind, single cohort study was conducted involving 80 patients with clinically suspected PC who underwent concomitant mpMRI-guided fusion prostate biopsy (Koelis System) and mUS-guided biopsy (ExactVu System) RESULTS: The detection rate of csPC was slightly higher for image-guided fusion biopsy (21.25% vs 18.75%), but this difference was not statistically significant (P = .453). There was also no significant difference in overall PC diagnosis (50% vs 51.25%, P = .897). The degree of agreement between the 2 diagnostic techniques for the detection of csPC as assessed by Cohen's Kappa concordance index was satisfactory κ ̂ = 0.676. The degree of International Society of Urological Pathology of targeted biopsies obtained from concordant lesions was also represented by satisfactory concordance with a Kappa index of κ ̂ = 0. 696. CONCLUSION: mUS-guided biopsy is presented as an effective diagnostic method for the diagnosis of csPC compared to image-guided fusion biopsy. No differences are found in the detection rates of csPC and PC between the 2 strategies and satisfactory concordance is found in terms of histopathological findings.

Intraoperative Sentinel Node Fine-Needle Aspiration Biopsy as a Substitute for Whole Sentinel Node Excisional Biopsy in Breast Cancer Patients. Initial Report.

INTRODUCTION: Sentinel Node Biopsy (SNB) is the choice procedure for axillary staging in Breast Cancer. Following the ACOSOG Z11 trial, axillary dissection is advised only in patients with more than 2 positive SNs. We aimed at exploring palpation-guided, intraoperative fine-needle aspiration biopsy of the SN as a replacement for whole SN excision in node-negative BC patients to minimize side-effects. PATIENTS AND METHODS: We included 80 patients with BC undergoing SNB between December 2020 and May 2022. After identification of the SN, the breast surgeon performed SN-FNAB. Results were compared with definitive pathological assessment. ResultsDiagnostic yield was 80%, including a "learning curve." 58 of 64 patients with suitable samples tested negative. In this group, the Negative Predictive Value was 77.6% (IC 64.7%-87.5 %). If micro metastasis is disregarded, the NPV would increase to 86.2% (IC 74.6%-93.9%). If we accept the Z11 criterion for axillary dissection, the NPV would rise to 100%. Six patients had a positive SN-FNAB. They were all confirmed as having macro metastatic-positive SNs at the final pathological assessment, and 3 of them also displayed extra nodal extension (ENE). CONCLUSION: We believe that intraoperative SN-FNAB is highly accurate for swiftly depicting both low axillary tumor burden/negative cases, in whom axillary dissection is to be omitted, as well as high axillary tumor burden cases.

Clinico-pathologic factors associated with the occurrence of early and late metastatic spread in a cohort of breast cancer patients.

BACKGROUND AND OBJECTIVE: Distant metastatic spread in breast cancer patients is a complex phenomenon involving several prognostic factors. We focused our analysis on early metastatic breast cancer (EMBC) (occurring during the first 36 months) versus late metastatic breast cancer (LMBC) (occurring beyond 3 years) in order to ascertain their possible differential predictive factors. METHODS: diagnostic, surgical, and follow-up data were assessed for consecutive patients with breast cancer undergoing surgery between 1997 and 2019. We analysed the predictive factors for distant metastasis using both univariate and multivariate analysis. RESULTS: The median follow-up for this cohort of 2708 patients was 89 months. The median metastasis-free interval (FMI) for metastasis patients was 38 months (17 months for EMBC group and 76 months for LMBC group). Distant metastases developed in 12.9% (350/2708); 48% (168/350) of them as EMBC and 52% (182/350) as LMBC. Loco-regional recurrence and nodal extracapsular extension were the only common predictors for both. CONCLUSIONS: EMBC and LMBC appeared as two separate conditions, with a different outcome. In the EMBC group, tumour proliferation related factors were significant (histological grade, tumour size, body mass index), whereas for LMBC, other slow-acting factors seemed to be involved (screening program, tumour burden, bilateral tumour).

[Urinary stone imaging tests.] / Diagnóstico por imagen de la litiasis urinaria.

Imaging in urolithiasis has a wide group of techniques, with different characteristics, limitations, and indications, which together allow the management of this prevalent pathology. Plain abdominal radiography and ultrasound are very accessible and in expensive techniques that combined present an acceptable sensitivity and specificity. They are widely used for monitoring the evolution of stone disease and for evaluation after treatments (surgery or SWL). Ultrasound is the primary radiological diagnostic tool in the pediatric population and in pregnant women. CT has prevailed over IVP in the anatomical assessment of the urinary tract and the description of the characteristics of the lithiasis, although it shows a greater exposure to ionizing radiation, so the use of low and ultra-low dose CT is spreading. In this article we also discuss other imaging techniques suchas Digital to mosynthesis, Fluoroscopy and DMSA Scintigraphy.

El diagnóstico por imagen de la urolitiasis comprende un amplio grupo de técnicas, con diferentes características, limitaciones e indicaciones, que en su conjunto permiten el manejo de esta patología tan prevalente. La radiografía simple de abdomen y la ecografía son técnicas muy accesibles y económicasque combinadas presentan una aceptable sensibilidad y especificidad. Siendo ampliamente utilizadas para el seguimiento de la evolución de la enfermedad litiásica y para la valoración tras tratamientos (cirugía o LEOC). La ecografía es la técnica de elección en la población pediátrica y en gestantes. El TC se ha impuesto sobre la UIV en la valoración anatómica de la vía urinaria y la descripción de las características de la litiasis,  aunque presenta una mayor exposición a radiaciones ionizantes, por lo que se está extendiendo el uso del TC de baja y ultrabaja dosis. Tratamos también en este artículo otras técnicas como la Tomosíntesis digital, la Fluoroscopiay la Gammagrafía DMSA.

Iterative renal transplantation: our experience on third transplants.

PURPOSE: To report our experience on third kidney transplantation, analyzing the complications and graft survival rates as compared to previous transplants. METHODS: Retrospective study of third renal transplants performed at our center. Outcomes were compared with a cohort of first and second transplants. RESULTS: Of a total of 4143, we performed 72 third transplants in 46 men and 26 women with an average age of 46 years and mean time on dialysis of 70 months. Thirty-seven patients were hypersensitized [panel-reactive antibody (PRA) > 50%]. They were all from deceased donors, with a mean cold ischemia time of 19.2 h. The extraperitoneal heterotopic approach was used in 88.8%, transplantectomy was performed in 80.6% and vascular anastomoses were realized mostly to external iliac vessels, using the common iliac artery in 15 cases, and the inferior vena cava in 16. The main ureteral reimplantation technique was the Politano-Leadbetter (76.4%). Third transplantation reported a significantly higher incidence of lymphocele (13.9% vs. 3.2% in first and 4.5% in second transplants; p < 0.001), rejection (34.7% vs. 14.9% and 20.5%, p < 0.001) and urinary obstruction (11.1% vs. 3.6% and 6.3%, p 0.002). Graft survival rates for first, second and third transplants were 87%, 86% and 78% at 1 year, 83%, 82% and 74% at 3 years and 80%, 79% and 65% at 5 years, respectively. CONCLUSION: Iterative transplantation constitutes a valid therapeutic option with adequate surgical and survival results compared to previous transplants. It is a challenging procedure which must be performed by experienced surgeons.

Malignant Solitary Fibrous Tumour of the Breast Mimicking a Benign Tumor.

Solitary fibrous tumour (SFT) of the breast is exceedingly uncommon. Radiological assessment usually shows benign features. We report on a case of malignant SFT of the breast, while emphasizing the need for additional immunostains to reach a definitive diagnosis. Standard treatment consists of lesion removal with adequate margins.

Magnetic resonance imaging in the preoperative setting for breast cancer patients with undetected additional disease.

OBJECTIVE: The last few years have witnessed a significant increase in the preoperative use of Magnetic Resonance Imaging (MRI) for staging purposes in breast cancer (BC) patients. Many studies have confirmed the improvement that MRI can provide in terms of diagnostic assessment, especially with regard to additional disease foci. In the present study, we address the advantages and disadvantages of MRI in the preoperative setting for BC patients. PATIENTS AND METHODS: There were 1513 consecutive breast MRI studies performed in patients with either primary or recurrent BC, who were scheduled for surgery. RESULTS: Beyond the primary lesion, 10.4% of our cases had additional disease at the final histological assessment. MRI overall sensitivity, when considering tumour size and additional foci together, was 74.3%, and 80.3% when considering additional foci exclusively. MRI specificity for additional disease was 95.3%, positive predictive value was 77.4%, and negative predictive value was 94.6%. Nevertheless, 5% of cases had additional tumours that were missed by MRI or, conversely, had additional foci on MRI that were not confirmed by histology. Age (p=0.020) and lobular carcinomas (p=0.030) showed significance in the multivariate analysis by logistic regression, using the presence of additional foci diagnosed by MRI as a dependent variable. CONCLUSION: Preoperative MRI seems to have a role in preoperative tumour staging for breast cancer patients, as it discloses additional disease foci in some patients, including contralateral involvement. However, given the lack of absolute accuracy, core-needle biopsy cannot be neglected in the diagnosis of such additional malignant foci, which could result in a change in surgical treatment.

[Treatment of uterine fibroids using high-intensity ultrasound]. / Tratamiento de los miomas uterinos mediante ultrasonidos de alta intensidad.

High-intensity ultrasound surgery is being actively introduced as an alternative treatment to conventional surgery for uterine fibroids. Numerous studies have shown that high-intensity ultrasound surgery is a safe and effective treatment, with fewer side effects than fibroidectomy and hysterectomy, and is cost-effective. It is now possible to offer this alternative therapy to patients with symptomatic uterine fibroids. We describe the technical basis of ultrasound surgery, the pretherapy selection of patients, the limiting factors and the risks of high-intensity ultrasound therapy. We describe our unit's clinical experience with 319 patients treated in an outpatient regimen, which resulted in a high rate of success (81%) and an acceptable rate of mild complications, as well as a virtually immediate return to daily activities. We comment on the follow-up of pregnancies that occurred after treatment with high-intensity focused ultrasound (HIFU) with no side effects attributable to the therapy.

Diagnóstico por imagen de la litiasis urinaria / Urinary stone imaging tests

El diagnóstico por imagen de la urolitiasis comprende un amplio grupo de técnicas, con diferentes características, limitaciones e indicaciones, que en su conjunto permiten el manejo de esta patología tan prevalente. La radiografía simple de abdomen y la ecografía son técnicas muy accesibles y económicas que combinadas presentan una aceptable sensibilidad y especificidad. Siendo ampliamente utilizadas para el seguimiento de la evolución de la enfermedad litiásica y para la valoración tras tratamientos (cirugía o LEOC). La ecografía es la técnica de elección en la población pediátrica y en gestantes. El TC se ha impuesto sobre la UIV en la valoración anatómica de la vía urinaria y la descripción de las características de la litiasis, aunque presenta una mayor exposición a radiaciones ionizantes, por lo que se está extendiendo el uso del TC de baja y ultrabaja dosis. Tratamos también en este artículo otras técnicas como la Tomosíntesis digital, la Fluoroscopia y la Gammagrafía DMSA

Imaging in urolithiasis has a wide group of techniques, with different characteristics, limitations, and indications, which together allow the management of this prevalent pathology. Plain abdominal radiography and ultrasound are very accessible and inexpensive techniques that combined present an acceptable sensitivity and specificity. They are widely used for monitoring the evolution of stone disease and for evaluation after treatments (surgery or SWL). Ultrasound is the primary radiological diagnostic tool in the pediatric population and in pregnant women. CT has prevailed over IVP in the anatomical assessment of the urinary tract and the description of the characteristics of the lithiasis, although it shows a greater exposure to ionizing radiation, so the use of low and ultra-low dose CT is spreading. In this article we also discuss other imaging techniques such as Digital tomosynthesis, Fluoroscopy and DMSA Scintigraphy

Tratamiento de los miomas uterinos mediante ultrasonidos de alta intensidad / Treatment of uterine fibroids using high-intensity ultrasound

La cirugía mediante ultrasonidos de alta intensidad (HIFU, high intensity focused ultrasound) se esta introduciendo con fuerza como tratamiento alternativo a la cirugía convencional de los miomas uterinos. Múltiples estudios han demostrado que es un tratamiento efectivo y seguro, con efectos secundarios mucho menores que la miomectomía y la histerectomía, siendo además coste-efectivo. Hoy es posible ofrecer esta alternativa terapéutica a las pacientes con miomas uterinos sintomáticos. Describiremos las bases técnicas de la cirugía por ultrasonidos, la selección preterapéutica de las pacientes, los factores limitantes y los riesgos de la terapia con ultrasonidos de alta intensidad. Describimos la experiencia clínica de nuestra unidad con 319 pacientes tratadas en régimen ambulatorio con una elevada tasa de éxito, 81%, y con una tasa de complicaciones leves aceptable, además de una reincorporación a las actividades habituales prácticamente inmediata. Comentamos el seguimiento de las gestaciones que se han producido después del tratamiento con HIFU sin efectos secundarios atribuibles a la terapia (AU)

High-intensity ultrasound surgery is being actively introduced as an alternative treatment to conventional surgery for uterine fibroids. Numerous studies have shown that high-intensity ultrasound surgery is a safe and effective treatment, with fewer side effects than fibroidectomy and hysterectomy, and is cost-effective. It is now possible to offer this alternative therapy to patients with symptomatic uterine fibroids. We describe the technical basis of ultrasound surgery, the pretherapy selection of patients, the limiting factors and the risks of high-intensity ultrasound therapy. We describe our unit's clinical experience with 319 patients treated in an outpatient regimen, which resulted in a high rate of success (81%) and an acceptable rate of mild complications, as well as a virtually immediate return to daily activities. We comment on the follow-up of pregnancies that occurred after treatment with high-intensity focused ultrasound (HIFU) with no side effects attributable to the therapy (AU)