Multiple and hereditary renal tumors: a review for radiologists.

80% of renal carcinomas (RC) are diagnosed incidentally by imaging. 2-4% of "sporadic" multifocality and 5-8% of hereditary syndromes are accepted, probably with underestimation. Multifocality, young age, familiar history, syndromic data, and certain histologies lead to suspicion of hereditary syndrome. Each tumor must be studied individually, with a multidisciplinary evaluation of the patient. Nephron-sparing therapeutic strategies and a radioprotective diagnostic approach are recommended. Relevant data for the radiologist in major RC hereditary syndromes are presented: von-Hippel-Lindau, Chromosome-3 translocation, BRCA-associated protein-1 mutation, RC associated with succinate dehydrogenase deficiency, PTEN, hereditary papillary RC, Papillary thyroid cancer- Papillary RC, Hereditary leiomyomatosis and RC, Birt-Hogg-Dubé, Tuberous sclerosis complex, Lynch, Xp11.2 translocation/TFE3 fusion, Sickle cell trait, DICER1 mutation, Hereditary hyperparathyroidism and jaw tumor, as well as the main syndromes of Wilms tumor predisposition. The concept of "non-hereditary" familial RC and other malignant and benign entities that can present as multiple renal lesions are discussed.

Utility of cervical pessary in the prevention of preterm birth in triplet pregnancies: A single-center observational retrospective study of 165 triplet pregnancies.

OBJECTIVE: Premature births are a health problem arising in triplet pregnancies, resulting in high levels of morbidity and mortality. The objective of this study is to evaluate the utility of cervical pessaries in reducing prematurity (<34 weeks) in triplet pregnancies. METHODS: This is a single-center, retrospective case-control study regarding triplet pregnancies with follow-up at the La Paz University Hospital between 2000 and 2023. Maternal characteristics, obstetric and perinatal outcomes, and the use of cervical pessaries were examined. RESULTS: 165 triplet pregnancies were analyzed: 87 (52.7 %) in the case group (premature triplet pregnancies) and 78 in the control group (non-premature triplet pregnancies). A cervical pessary was inserted in 15 (17.2 %) triplet pregnancies in the case group and in 12 (16.7 %) triplet pregnancies in the control group (p = 0.92; OR = 1.04 (0.46-2.35)). A pessary was later inserted in the non-premature group (p = 0.01). The risk of preterm labor and the use of tocolytics ± glucocorticoids were found to be significantly more frequent in the premature group, with p = 0.01; OR = 2.30 (1.21-4.36) and p < 0.01; OR = 2.36 (1.23-4.44), respectively. Protocol-based cesarean sections were more frequent in the non-premature group (p < 0.01), while cesarean sections due to maternal complications (p < 0.01) and premature membrane rupture (p < 0.01) were more frequent in the premature group. CONCLUSION: The cervical pessary is not useful in preventing preterm births (< 34 weeks) in triplet pregnancies. It is likely that being pregnant with triplets is a powerful independent factor associated with prematurity, despite other pregnancy conditions. Women who are pregnant with triplets and at risk of preterm labor and those taking tocolytics ± glucocorticoids may benefit from pessary insertion.

Comparison of maternal, fetal, obstetric and neonatal outcomes for 234 triplet pregnancies conceived in vivo versus IVF and ICSI conceptions.

RESEARCH QUESTION: Is there a difference in maternal, fetal, obstetric and neonatal outcomes for triplet pregnancies when comparing in vivo conceptions with those conceived by assisted reproductive technology (ART)? DESIGN: This single-centre, retrospective cohort study included all triplet pregnancies followed up at La Paz University Hospital, Madrid between 2000 and 2022. The characteristics of the pregnant women, and maternal, fetal, obstetric and perinatal outcomes were examined. Univariate and multivariate statistical analyses were performed. RESULTS: In total, 234 triplet pregnancies were analysed: 92 in the natural and assisted insemination conception group (in-vivo conception) and 142 in the in vitro fertilization and intracytoplasmic sperm injection conception group (ART conception). ART triplet pregnancies were more common between 2000 and 2010 (P = 0.003). The percentage of monochorionic triamniotic pregnancies was significantly higher (P = 0.02) in the in-vivo conception group, and the percentage of dichorionic triamniotic pregnancies was significantly higher (P = 0.003) in the ART conception group. After adjusting for confounders, intrauterine growth restriction (IUGR) remained significantly more common in the ART conception group (adjusted odds ratio 8.65, 95% CI 1.66-45.03; P = 0.01). Differences in maternal age (P = 0.61), threatened preterm labour (P = 0.10), Apgar score ≤5 at 5 min (P = 0.99), umbilical cord pH <7.20 (P = 0.99) and fetal death (P = 0.99) disappeared after adjustment for confounders. CONCLUSION: ART triplet pregnancies had a higher rate of IUGR than in vivo triplet pregnancies. This could be related to higher maternal age, and higher rates of Apgar score ≤5 at 5 min and umbilical cord pH <7.20 in these pregnancies. In these cases, placental examination could provide valuable information.

Immunofluorescence study of the placenta in a case of pemphigoid gestationis: Pathophysiological bases / Estudio de inmunofluorescencia de la placenta a propósito de un caso de penfigoide gestacional: bases fisiopatológicas

Introducción: El herpes gestationis (HG) es una de las principales dermatosis del embarazo que debe ser reconocida y tratada oportunamente ya que se relaciona con un empeoramiento del pronóstico fetal. Aunque se ha investigado la afectación cutánea, hay escasez de estudios morfológicos y funcionales de la placenta en esta patología. Principales síntomas o hallazgos clínicos: Erupción vesicular eritematosa a las 32+1 semanas de gestación. Diagnósticos principales: HG. Intervenciones terapéuticas y resultados: Inmunogammaglobulina en casos graves refractarios a los corticoides por vía oral con desaparición completa de las lesiones. Conclusión: Hasta donde sabemos, este es el primer caso que reporta un análisis detallado de los depósitos de IgG y C3 en la membrana basal de las vellosidades de la placenta mediante un estudio de inmunofluorescencia. Estos hallazgos podrían relacionarse con el ligero mal funcionamiento de la placenta que puede explicar los efectos neonatales adversos.(AU)

Introduction: Pemphigoid gestationis (PG) is one of the main dermatoses of pregnancy that must be recognized and treated promptly, since it is related to worsening of foetal prognosis. Although skin involvement has been investigated, there is a lack of morphological and functional studies of the placenta in this pathology. Main symptoms and/or clinical findings: Erythematous vesicular rash at 32+1 weeks of gestation. Main diagnoses: PG. Therapeutic interventions and results: Immunogammaglobulin in severe cases refractory to oral corticosteroids with complete disappearance of the lesions. Conclusion: To our knowledge, this is the first case to report a detailed analysis of IgG and C3 deposits in the basement membrane of the placental villi by means of an immunofluorescence study. These findings could be related to a slight malfunction of the placenta that may explain the adverse neonatal effects.(AU)

Obstetric perinatal and maternal outcomes of monochorionic diamniotic twins following assisted reproductive techniques. Retrospective observational study / Resultados obstétricos perinatales y maternales en gemelos monocoriales diamnióticos conseguidos mediante técnicas de reproducción asistida. Estudio observacional retrospectivo

Introduction: Multiple and specifically monochorionic diamniotic (MCDA) pregnancies are related to maternal and foetal complications. The aim of this study is to evaluate obstetric and perinatal outcomes of MCDA after assisted reproductive techniques (ART). Methods: This is a case-control study comparing 23 MCDA twin pregnancies after ART (ART-MCDA) and 75 spontaneous MCDA (sMCDA). Maternal, obstetric, foetal, and perinatal outcomes variables including maternal age, prematurity, TTTS, sIUGR, TAPS, PROM, and neonatal weight were compared. Results: mean maternal age is higher in the ART-MCDA pregnancies, 38.0±.6 (OR=1.32(1.13–1.53)). Neonates weighing between 1500 and 2500g are more frequent in the sMCDA group and those weighing >2500g in the ART group (OR=0.47(0.22–0.97)). Foetuses born at between 32 and 37 weeks are more frequent in sMCDA pregnancies and those born >37 in the TRA group (OR=0.27(0.09–0.80)). These differences are lost when we adjust the results by maternal age. There were no differences in maternal, obstetric, or foetal complications. Conclusions: ART-MCDA are not associated with a higher number of maternal, obstetric or foetal complications if they are adjusted by maternal age. When they are not adjusted by maternal age, there would be better outcomes such as premature and neonatal weight in the ART group.(AU)

Antecedentes: El incremento de las técnicas de reproducción asistida (TRA) ha supuesto un aumento de las gestaciones gemelares en general, pero también de las monocoriales biamnióticas (MCBA), que se asocian a diversas complicaciones maternofetales. Estas complicaciones están bien estudiadas en gestaciones espontáneas, pero no en aquellas conseguidas mediante una TRA. Objetivo: Comparar la incidencia de complicaciones maternas, fetales, obstétricas y perinatales en gestaciones MCBA conseguidas de forma espontánea frente a aquellas conseguidas mediante TRA. Materiales y métodos: Estudio de casos-controles retrospectivo. Se han analizado 98 gestaciones gemelares MCBA controladas en la Unidad de Medicina Materno-Fetal del Servicio de Obstetricia del Hospital La Paz de Madrid entre los años 2015 y 2020. Resultados: La media de edad de las madres de las gestaciones MCBA conseguidas mediante TRA es mayor (OR=1,32 [1,13-1,53]). Los recién nacidos de peso entre 1.500-2.500g son más frecuentes en las gestaciones MCBA conseguidas de forma espontánea y los de >2.500g en las de TRA (OR=0,47 [0,22–0,97]). Los recién nacidos entre las 32-37 semanas son más frecuentes en las gestaciones gemelares MCBA espontáneas y los recién nacidos de >37 semanas en las de TRA (OR=0,27 [0,09-0,80]). Cuando estos resultados se ajustan por la edad materna dejan de ser estadísticamente significativos. Conclusiones: Las TRA no conllevan un aumento de las complicaciones en las gestaciones MCBA cuando se ajustan los resultados por la edad materna. Si no se ajustasen por la edad materna, las gestaciones MCBA conseguidas mediante TRA tendrían mejores resultados, con menos prematuridad y mayor peso del neonato.(AU)

Adrenal pheochromocytoma: Keys to radiologic diagnosis.

Pheochromocytomas are adrenal paragangliomas. Potentially malignant, these tumors have a low incidence but clear importance. They can appear in various hereditary syndromes, especially in von Hippel-Lindau syndrome, multiple endocrine neoplasia-2 (MEN2), and familial paraganglioma syndromes. In sporadic cases, underlying genetic alterations are often found, and these findings are changing our understanding of the disease. Although these tumors can manifest with a characteristic clinical presentation, in 13.1%-57.6% of cases, it is the radiologist who first suggests the diagnosis, indicating analyses for catecholamines or nuclear medicine examinations. Radiologists should suspect a pheochromocytoma on detection of a well-delimited adrenal mass with rapid, intense enhancement that typically shows cystic and hemorrhagic phenomena, high T2 signal intensity, and the absence of macroscopic or microscopic lipids. The behavior in diffusion-weighted imaging usually does not provide very useful information. Approximately one-third of lesions show late washout similar to that seen with adenomas on CT. Percutaneous puncture should be avoided to avoid the risk of unleashing a severe hypertensive crisis.

Complicaciones obstétricas relacionadas con la terapia antirretroviral en gestantes infectadas por el VIH / Obstetric complications related to antiretroviral therapy in pregnant women with HIV infection

IntroducciónEl porcentaje de gestantes infectadas por VIH que demandan embarazo ha aumentado en los países desarrollados debido a la estabilidad de la infección y la disminución de la transmisión vertical por los tratamientos antirretrovirales (TAR) y las medidas preventivas. Sin embargo, existe poca información respecto al efecto del TAR sobre el embarazo.MétodosEstudio retrospectivo de las gestantes infectadas por VIH con TAR controladas en el Hospital La Paz entre los años 2000-2017. Se estudiaron las complicaciones maternofetales.ResultadosSe recogieron 141 gestaciones en 112 mujeres infectadas por VIH. El TAR más utilizado fue la combinación de 2 inhibidores de la transcriptasa inversa análogos nucleosídicos+1 inhibidor de la proteasa (58,1%), con diferencias significativas entre los distintos tratamientos en cuanto a la carga viral plasmática, siendo indetectable en mayor medida con 2 inhibidores de la transcriptasa inversa análogos nucleosídicos +1 inhibidor de la transcriptasa inversa no nucleosídico, segunda pauta más utilizada. Las tasas de neonatos a término de bajo peso (<2.500g) (11,3%), partos pretérmino (11,1%) y rotura prematura de membranas pretérmino (5,6%) fueron mayores que en la población general. Aunque no hubo asociación, estas complicaciones fueron más frecuentes en gestantes con un inhibidor de la proteasa/ritonavir. No se relacionaron con la carga viral plasmática. No se encontró aumento en la tasa de interrupciones gestacionales, malformaciones ni diabetes gestacional.ConclusiónEn las gestantes infectadas por VIH con TAR está aumentada la tasa de neonatos a término de bajo peso, prematuridad y rotura prematura de membranas pretérmino en comparación con la población general, relacionándose especialmente con el tratamiento con un inhibidor de la proteasa, aunque sin asociación significativa.

IntroductionThe percentage of HIV-infected pregnant women seeking pregnancy has increased in developed countries due to the stability of the infection and the decrease in vertical transmission due to antiretroviral treatment (ART) and preventive measures. However, there is little information regarding the effect of ART on pregnancy.MethodsRetrospective study of HIV-infected pregnant women on ART monitored at Hospital La Paz between 2000-2017. Maternal-foetal complications were studied.ResultsOne hundred and forty-one gestations were collected in 112 HIV-infected women. The most commonly used ART was the combination of 2 nucleoside reverse transcriptase inhibitor analogues+1 protease inhibitor (58.1%), with significant differences between the different treatments in terms of plasma viral load being undetectable to a greater extent with 2 nucleoside reverse transcriptase inhibitor analogues+1 non-nucleoside reverse transcriptase inhibitor, the second most used regimen. The rates of low birth weight (<2,500g) term neonates (11.3%), preterm delivery (11.1%) and preterm premature rupture of membranes (5.6%) were higher than in the general population. Although there was no association, these complications were more frequent in pregnant women with a protease inhibitor/ritonavir. They were not related to plasma viral load. No increase in the rate of gestational terminations, malformations or gestational diabetes was found.ConclusionHIV-infected pregnant women on ART have an increased rate of low birth weight, prematurity, and preterm premature rupture of membranes at term compared to the general population, especially related to treatment with protease inhibitor, although without significant association.

Ultrasonography in infectious and neoplastic diseases of the bowel and peritoneum. / Ecografía de la patología infecciosa y tumoral del intestino y el peritoneo.

Ultrasonography is not the most cited imaging technique for the evaluation of infectious and neoplastic diseases of the gastrointestinal tract and the peritoneum, but it is often the initial technique used in the initial workup for nonspecific clinical syndromes. Despite its limitations, ultrasonography's strengths enable it to provide meaningful diagnostic information. To discuss the most important ultrasonographic, clinical, and epidemiological findings for infectious disease, we follow a topographical approach: stomach (Anisakis), proximal small bowel (Giardia lamblia, Strongyloides stercoralis, Mycobacterium avium-intracellulare complex, and Cryptosporidium), distal small bowel (Yersinia, Salmonella, and Campylobacter), terminal ileum and cecum (tuberculosis), right colon (Entamoeba histolytica), left colon (Shigella), sigmoid colon and rectum, pancolitis (Clostridium difficile, Cytomegalovirus, and Escherichia coli), and peritoneum. To discuss the ultrasonographic and clinical findings of the most common neoplastic diseases, we follow a nosological approach: polyploid lesions as precursors of tumors, carcinomas, neuroendocrine tumors, hematological tumors, mesenchymal tumors, and metastases. We briefly discuss tumors of the peritoneum and the use of ultrasonography to guide percutaneous biopsy procedures.

SARS-CoV-2: what it is, how it acts, and how it manifests in imaging studies. / SARS-CoV-2: cómo es, cómo actúa y cómo se expresa en la imagen.

COVID-19 is a disease with many clinical, biochemical, and radiological signs that has a predilection for the lungs, probably because of the high number of ACE-2 receptors in this organ. The infection of cells activates proinflammatory substances, causing diffuse alveolar damage, which is the histopathological basis of ARDS. The exudative phase would manifest as ground-glass opacities and consolidation, and the proliferative phase would manifest as a tendency toward a more linear morphology. Both CT and PET/CT findings support the inflammatory character of the lung lesions in the initial phase of the disease and in patients with mild-moderate disease. Severe cases have pulmonary hypoperfusion that is likely due to abnormal alveolar ventilation and perfusion. On the other hand, a prothrombotic state increases the risk of thromboembolic disease through the activation of coagulation and platelet pathways with the production of fibrin degradation products (D-dimer) and consumption of platelets.

SARS-CoV-2: cómo es, cómo actúa y cómo se expresa en la imagen / SARS-CoV-2: what it is, how it acts, and how it manifests in imaging studies

La COVID-19 es una enfermedad con una gran semiología clínica, bioquímica y radiológica, que tiene una afectación preferente por el pulmón, probablemente debido a un mayor número de receptores ECA-2. La infección celular activa sustancias proinflamatorias y provoca un daño alveolar difuso, que es la base histopatológica del distrés respiratorio del adulto. La fase exudativa explicaría las imágenes "en vidrio deslustrado" y consolidación, mientras que la tendencia hacia una morfología más lineal representa la fase proliferativa. Tanto la tomografía computarizada (TC) como la tomografía por emisión de positrones/ tomografía computarizada (PET/TC) apoyan el carácter inflamatorio de las lesiones pulmonares cuando la enfermedad está en fase inicial o es leve-moderada. Los casos graves muestran una hipoperfusión pulmonar que se explicaría por una alteración de la ventilación-perfusión alveolar (V/Q). Por otro lado, un estado protrombótico conlleva mayor probabilidad de enfermedad tromboembólica por la activación de la vía de la coagulación y plaquetaria, con la producción de sustancia de degradación de la fibrina (dímero D) así como el consumo de plaquetas

COVID-19 is a disease with many clinical, biochemical, and radiological signs that has a predilection for the lungs, probably because of the high number of ACE-2 receptors in this organ. The infection of cells activates proinflammatory substances, causing diffuse alveolar damage, which is the histopathological basis of ARDS. The exudative phase would manifest as ground-glass opacities and consolidation, and the proliferative phase would manifest as a tendency toward a more linear morphology. Both CT and PET/CT findings support the inflammatory character of the lung lesions in the initial phase of the disease and in patients with mild-moderate disease. Severe cases have pulmonary hypoperfusion that is likely due to abnormal alveolar ventilation and perfusion. On the other hand, a prothrombotic state increases the risk of thromboembolic disease through the activation of coagulation and platelet pathways with the production of fibrin degradation products (D-dimer) and consumption of platelets

Debut del síndrome de Susac durante la gestación, seguimiento a dos años y revisión de la literatura / Susac syndrome debut during pregnancy, two-year following up and review of the literature

Introducción: el síndrome de Susac es una enfermedad neurológica infrecuente caracterizada por la triada clínica oclusión arterial retinal, pérdida auditiva y encefalopatía. Desde su descripción por primera vez en dos mujeres por J.O. Susac en 1979, 304 casos han sido reportados, 13 de los ellos durante la gestación. Presentamos el primer caso, para nuestro conocimiento, en una gestante española con seguimiento a dos años comparándolo con los casos publicados previamente durante el embarazo. Paciente: mujer de 40 años gestante de 21 + 6 semanas. Caso: paciente que acude por cefalea intensa, desorientación y alteración del comportamiento. El electroencefalograma presenta una afectación generalizada y la resonancia magnética muestra alteraciones en la sustancia blanca. En el fondo de ojo se objetiva hiperemia papilar. Los resultados del análisis sanguíneo eran normales incluyendo la determinación de múltiples anticuerpos. La paciente comienza con pérdida auditiva bilateral progresiva por lo que se instaura tratamiento con corticoesteroides y ciclos de inmunoglobulinas, con buenas respuestas clínicas y radiológicas. El transcurso del resto del embarazo fue satisfactorio naciendo un neonato de 35 semanas tras rotura prematura de membranas. Siete meses más tarde la paciente presenta una recaída visual que se recupera con tratamiento intravenoso. Tras 2 años de seguimiento, solo presenta déficit visual leve. Discusión: a pesar de los casos publicados, el síndrome de Susac es una patología desconocida, especialmente durante la gestación. El tratamiento óptimo y el pronóstico son inciertos, aunque los corticoesteroides y las inmunoglobulinas han demostrado eficacia

Introduction: Susac syndrome is an infrequent neurological condition which primarily presents with the clinical triad of retinal artery occlusion, hearing loss, and encephalopathy. From its initial report on two women in 1979 by J.O. Susac, 304 cases has been reported from which 13 were during pregnancies. Here we present the first reported case to our knowledge in a Spanish pregnant women with a following up of 2 years compared with all of the previous cases reported on pregnancies. Patient: 40 year-old woman pregnant of 21 weeks and 6 days. Results: The patient was brought to our hospital due to severe cephalea, disorientation and history of behavioral changes. The electroencephalogram witnessed generalized affectation and the magnetic resonance showed white matter lesions. The fundus of the eye witnessed hyperemic papillae. The analytic was normal including the study of a great deal of antibodies. Bilateral progressive hearing loss was added to her first condition. Treatment was instituted with corticosteroids and immunoglobulin cycles showing positive clinical and radiological response. The course of the gestation was favorable with the birth of a healthy newborn at 35 weeks due to premature rupture of membranes. Seven months later she experienced a visual relapse recovered after intravenous treatment. Currently and after a two-year follow-up, she has virtually a complete recovery highlighting solely mild visual deficit. Discusion: Despite the published cases, Susac syndrome is still an elusive disease especially during pregnancy. The optimal treatment and the prognosis are unknown, although corticosteroids and immunoglobulins have demonstrated their efficacy

Recessive Dystrophic Epidermolysis Bullosa and Pregnancy. / Epidermólisis bullosa distrófica recesiva y embarazo.

Dystrophic epidermolysis bullosa is a rare inherited disease caused by mutations in the COL7A1 gene. Its recessive variant (recessive dystrophic epidermolysis bullosa) is characterized by the absence or considerably reduced expression of type VII collagen, which leads to marked fragility of the skin and mucous membranes and subsequent blister formation, whether spontaneously or following minimal injury. There have been very few reports of this disease in pregnant women. We present 2 cases of pregnant women with recessive dystrophic epidermolysis bullosa managed in our High-Risk Pregnancy Unit at Hospital Universitario La Paz, Madrid, Spain. Both patients underwent full-term cesarean delivery, with no further complications for mother or child. Although recessive dystrophic epidermolysis bullosa increases the risk of maternal complications, a patient is not advised against pregnancy. With adequate monitoring, these patients can fulfil their desire to become mothers.

Successful treatment of intrauterine cytomegalovirus infection with an intraventricular cyst in a dichorionic diamniotic twin gestation using cytomegalovirus immunoglobulin.

Congenital cytomegalovirus (CMV) infection is the leading cause of severe congenital abnormalities. CMV immunoglobulin (CMVIG) may lower risk for symptomatic disease in congenital CMV infection. In a twin pregnancy, only one fetus shows CMV infection, raising a dilemma about intervention since the uninfected fetus would be exposed to treatment unnecessarily. CMVIG (2 × 200 U/kg) was given due to high viral load and development of an intraventricular cyst. The cyst growth plateaued, no other brain damage developed, and at 8 months, the infant was symptom-free. CMVIG appears appropriate to treat intrauterine CMV infection in this setting.