Síndrome de las uñas amarillas. Presentación de un caso con estudio autópsico / Yellow nail syndrome. A case report with postmortem study

El síndrome de las uñas amarillas es una enfermedad rara de etiología desconocida, caracterizado por una coloración amarillenta de las uñas, manifestaciones respiratorias y linfedemas primarios1. Existe poca literatura científica en referencia a estudios autópsicos de pacientes con este síndrome, así como respecto a su etiología, si bien se postula que es causada por una malformación de los conductos linfáticos. En este artículo presentamos el caso de una paciente diagnosticada en vida de síndrome de las uñas amarillas en cuyo estudio autópsico se encontraron algunos hallazgos previamente no descritos, como dilatación de los senos de ganglios linfáticos mediastinales y esplénicos.(AU)

Yellow nail syndrome is a rare disease of unknown aetiology. Patients with YNS have a characteristic yellowish-coloured nails, pulmonary alterations and primary lymphedema. To the best of our knowledge, only a few reports of autopsy findings in these patients have been published. Its aetiology possibly involves a primary malformation of larger lymph vessels. We describe autopsy findings not previously associated with yellow nail syndrome, such as expansion of mediastinal lymph-nodes and splenic sinusoids.The present autopsy reveals hitherto unreported findings associated with YNS, such as alterations in splenic sinusoids and mediastinal lymph-node sinuses.(AU)

[Yellow nail syndrome. A case report with postmortem study]. / Síndrome de las uñas amarillas. Presentación de un caso con estudio autópsico.

Yellow nail syndrome is a rare disease of unknown aetiology. Patients with YNS have a characteristic yellowish-coloured nails, pulmonary alterations and primary lymphedema. To the best of our knowledge, only a few reports of autopsy findings in these patients have been published. Its aetiology possibly involves a primary malformation of larger lymph vessels. We describe autopsy findings not previously associated with yellow nail syndrome, such as expansion of mediastinal lymph-nodes and splenic sinusoids. The present autopsy reveals hitherto unreported findings associated with YNS, such as alterations in splenic sinusoids and mediastinal lymph-node sinuses.

Fecal pulmonary embolism: a case report and literature review.

Pulmonary embolism (PE) is a common cause of death in hospitalized patients. These emboli are usually related to deep venous thrombosis, but other etiologic factors may be the cause. A 60-year-old male was diagnosed with rectal adenocarcinoma and treated by surgical rectal resection. After surgery, he presented with a decreased level of consciousness and hypoxia with no signs of bleeding. PE was ruled out by pulmonary angiography. Given the hemodynamic instability, contrast-enhanced CT was performed, showing a discrete leak related to the rectal anastomosis, which required urgent surgery. The patient suffered cardiorespiratory arrest prior to surgery, and once resolved, the surgical procedure was limited to disconnecting the intestinal anastomosis, leaving the colon and rectal stumps free in the abdomen and keeping the abdominal cavity open with negative-pressure therapy. The patient suffered from another cardiorespiratory arrest after surgery, with abdominal distension and serous-hemorrhagic material discharge through the negative-pressure device. On a new surgical revision, no bleeding was identified, so the symptoms were attributed to coagulopathy. The patient died and autopsy was performed. The autopsy revealed no surgery-related complications. The lungs were increased in weight and showed a normal macroscopic appearance; in contrast, the histological study revealed multiple and bilateral thrombo-embolisms affecting small distal arteries. Those thrombi were composed of intestinal contents, including vegetal particles, mucinous and biliary material, fibrin, and bacterial structures. Fecal PE is an extremely infrequent event. Isolated cases have been described in association with communications between the digestive tract lumen and the systemic circulation, with a generally fatal prognosis.

THSD7A-positive membranous nephropathy after kidney transplantation: A case report.

Membranous nephropathy (MN) is a common cause of nephrotic syndrome after kidney transplantation (KT); however, scarce is known regarding post-KT thrombospondin type-1 domain-containing 7A (THSD7A)-positive MN. Herein, we report on a 72-year-old woman with end-stage kidney disease due to chronic interstitial nephritis (1996). In February 2020, she received a second deceased-donor KT, achieving optimal kidney function but presenting early post-KT proteinuria, reaching up to 1800mg/24h six months after transplantation, controlled with renin-angiotensin-aldosterone system (RAAS) blockade. In July 2021, a kidney allograft biopsy revealed features consistent with MN. Immunohistochemical stains showed diffuse and granular THSD7A and C4d deposition in glomerular capillary walls and negative PLA2R and IgG4 staining. No anti-THSD7A antibodies were detected in the serum. The pre-implantation biopsy showed no MN-associated lesions and negative THSD7A staining. Secondary triggers such as malignancy were discarded. The present report illustrates a THSD7A-positive MN in a KT recipient. Despite lacking native kidney biopsy and early presentation, a recurrent MN seemed unprovable due to documented native kidney disease and a long time span between native kidney disease and MN diagnosis. We, therefore, presumed primary de novo disease. Two years after KT, kidney function remains stable, and the patient has reached complete remission of proteinuria.

Concordance of p16INK4a and E6*I mRNA among HPV-DNA-Positive Oropharyngeal, Laryngeal, and Oral Cavity Carcinomas from the ICO International Study.

Background: Tests or test algorithms for diagnosing HPV-driven oral cavity and laryngeal head and neck carcinomas (HNC) have not been yet validated, and the differences among oral cavity and laryngeal sites have not been comprehensively evaluated. We aimed to assess the utility of a diagnostic algorithm for the detection of HPV-driven oral cavity (OCC), oropharyngeal (OPC) and laryngeal (LC) carcinomas using HPV-DNA testing followed by p16INK4a immunohistochemistry, taking E6*I mRNA detection as the reference standard. Methods: Formalin-fixed paraffin-embedded OCC, OPC, and LC carcinomas were collected from pathology archives in 29 countries. All samples were subjected to histopathological evaluation, DNA quality control, and HPV-DNA detection. All HPV-DNA-positive samples (including 78 OCC, 257 OPC, and 51 LC out of 3680 HNC with valid HPV-DNA results) were also tested for p16INK4a immunohistochemistry and E6*I mRNA. Three different cutoffs of nuclear and cytoplasmic staining were evaluated for p16INK4a: (a) >25%, (b) >50%, and (c) ≥70%. The concordance of p16INK4a and E6*I mRNA among HPV-DNA-positive OCC, OPC, and LC cases was assessed. Results: A total of 78 OCC, 257 OPC, and 51 LC were HPV-DNA-positive and further tested for p16INK4a and E6*I mRNA. The percentage of concordance between p16INK4a (cutoff ≥ 70%) and E6*I mRNA among HPV-DNA-positive OCC, OPC, and LC cases was 79.5% (95% CI 69.9−89.1%), 82.1% (95% CI 77.2−87.0%), and 56.9% (95% CI 42.3−71.4%), respectively. A p16INK4a cutoff of >50% improved the concordance although the improvement was not statistically significant. For most anatomical locations and p16INK4a cutoffs, the percentage of discordant cases was higher for HPV16- than HPV-non16-positive cases. Conclusions: The diagnostic algorithm of HPV-DNA testing followed by p16INK4a immunohistochemistry might be helpful in the diagnosis of HPV-driven OCC and OPC, but not LC. A different p16INK4a expression pattern was observed in those cases HPV-DNA-positive for types other than HPV16, as compared to HPV16-positive cases. Our study provides new insights into the use HPV-DNA, p16INK4a, and HPV-E6*I mRNA for diagnosing an HPV-driven HNC, including the optimal HPV test or p16INK4a cutoffs to be used. More studies are warranted to clarify the role of p16INK4a and HPV status in both OPC and non-OPC HNC.

Role of Human Papillomavirus Infection in Head and Neck Cancer in Italy: The HPV-AHEAD Study.

Literature on the role of human papillomavirus (HPV) in head and neck cancer (HNC) in Italy is limited, especially for non-oropharyngeal tumours. Within the context of the HPV-AHEAD study, we aimed to assess the prognostic value of different tests or test algorithms judging HPV carcinogenicity in HNC and factors related to HPV positivity at the European Institute of Oncology. We conducted a retrospective cohort study (2000-2010) on a total of 696 primary HNC patients. Formalin-fixed, paraffin-embedded cancer tissues were studied. All HPV-DNA-positive and a random sample of HPV-DNA-negative cases were subjected to HPV-E6*I mRNA detection and p16INK4a staining. Multivariate models were used to assess for factors associated with HPV positivity and proportional hazards for survival and recurrence. The percentage of HPV-driven cases (considering HPV-E6*I mRNA positivity) was 1.8, 2.2, and 40.4% for oral cavity (OC), laryngeal (LC), and oropharyngeal (OPC) cases, respectively. The estimates were similar for HPV-DNA/p16INK4a double positivity. Being a non-smoker or former smoker or diagnosed at more recent calendar periods were associated with HPV-E6*I mRNA positivity only in OPC. Being younger was associated with HPV-E6*I mRNA positivity in LC. HPV-driven OPC, but not HPV-driven OC and LC, showed better 5 year overall and disease-free survival. Our data show that HPV prevalence in OPC was much higher than in OC and LC and observed to increase in most recent years. Moreover, HPV positivity conferred better prognosis only in OPC. Novel insights on the role of HPV in HNC in Italy are provided, with possible implications in the clinical management of these patients.

Guía de cribado del cáncer de cuello de útero en España, 2014 / No disponible

No disponible

Guía de cribado del cáncer de cuello de útero en España, 2014 / No disponible

No disponible

Aplicación de la lectura automatizada de citología ginecológica. El punto de vista de los citotécnicos / The use of automated readings in gynaecological cytology. The cytotechnician's viewpoint

La automatización de la citología ginecológica es ya un hecho en progresivo aumento en los servicios de anatomía patológica. Entre otros cambios, permite focalizar la atención del citotécnico y del citopatólogo en algunos datos de la extensión a analizar lo que permite mejorar la interpretación y por tanto, el diagnóstico. Hemos realizado un estudio comparativo de un total de 53.311 muestras correspondientes a otras tantas mujeres de distintos distritos de Barcelona, comparando el rendimiento de la citología convencional, de la citología liquida (ThinPrep Pap Test®, TPPT, Hologic, Malborough, Massachussets) con lectura manual y de la citología liquida (ThinPrep Pap Test®) con lectura automatizada (Imager®, Hologic, Malborough Massachussets), en 2 aspectos, uno el rendimiento global comparativo y 2 el rendimiento en relación al seguimiento de las pacientes. Concluimos que la lectura automatizada aumenta en nuestra serie el diagnóstico de ASCUS y LSIL, manteniendo en términos comparativos el diagnóstico de HSIL. Sin embargo, en el seguimiento de las pacientes observamos que se detectan más casos de HSIL en diagnósticos previos de ASCUS y LSIL con lectura automatizada y que los casos diagnosticados de HSIL muestran una correlación con la biopsia significativamente superior. Concluimos que la lectura automatizada de citología ginecológica incrementa la sensibilidad para diagnóstico de ASCUS y LSIL e incrementa la especificidad para el diagnóstico de HSIL(AU)

The use of automated technologies in gynaecological cytology is increasing in many departments of pathology. Amongst other things, it allows the cytotechnician and the cytologist to focus on specific areas of the slide which enhances identification and therefore improves diagnosis. We have carried out a comparative study of 53.311 samples taken from the same number of women resident in Barcelona. We compared the efficiency of conventional cytology, liquid cytology (ThinPrep Pap Test®, TPPT, Hologic, Malborough, Massachussets) with manual reading and liquid cytology (ThinPrep Pap Test) with automated reading (Imager®, Hologic, Malborough Massachussets). Two aspects were evaluated: comparative global performance and performance in relation to patient follow-up. We found that automated readings increased the diagnosis of ASCUS and LSIL whilst the frequency of HSIL diagnosis remained similar. However, in patient follow-ups, we observed that more cases of HSIL were detected in women with previous diagnoses of ASCUS and LSIL when automated reading was used and that there was a significantly greater correlation between the cytological diagnosis and the findings on biopsy. We concluded that there is greater sensitivity for the diagnosis of ASCUS and LSIL as well as an increased specificity for the diagnosis of HSIL when automated readings of gynaecological cytology are used(AU)