Congenital metastatic neuroblastoma with placental involvement as a rare cause of non-immune fetal hydrops.

Non-immune hydrops fetalis represents the end-stage status of a variety of diseases, including metastatic tumors. We report a case of non-immune hydrops fetalis associated with multiple disseminated echogenic nodular lesions detected by ultrasound and confirmed by magnetic resonance. Cordocentesis demonstrated anemia and thrombopenia. Differential diagnosis included histiocytosis X, acute leukemia or metastatic disease. A stillbirth was diagnosed at week 25 + 6. The autopsy revealed hydrops fetalis, a right adrenal gland mass, multiple disseminated nodules histologically composed of small round blue cells positive for synaptophysin, and placental involvement, concordant findings with congenital undifferentiated neuroblastoma Stage M. No chromosomal abnormalities were associated, nor amplification abnormalities in MYCN and ALK genes. Metastatic neuroblastoma should be considered in the differential diagnosis of non-immune hydrops fetalis associated with multiple nodular lesions.

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)

Classification of follicular-patterned thyroid lesions using a minimal set of epigenetic biomarkers.

Objective: The minimally invasive fine-needle aspiration cytology (FNAC) is the current gold standard for the diagnosis of thyroid nodule malignancy. However, the correct discrimination of follicular neoplasia often requires more invasive diagnostic techniques. The lack of suitable immunohistochemical markers to distinguish between follicular thyroid carcinoma and other types of follicular-derived lesions complicates diagnosis, and despite most of these tumours being surgically resected, only a small number will test positive for malignancy. As such, the development of new orthogonal diagnostic approaches may improve the accuracy of diagnosing thyroid nodules. Design: This study includes a retrospective, multi-centre training cohort including 54 fresh-frozen follicular-patterned thyroid samples and two independent, multi-centre validation cohorts of 103 snap-frozen biopsies and 33 FNAC samples, respectively. Methods: We performed a genome-wide genetic and epigenetic profiling of 54 fresh-frozen follicular-patterned thyroid samples using exome sequencing and the Illumina Human DNA Methylation EPIC platform. An extensive validation was performed using the bisulfite pyrosequencing technique. Results: Using a random forest approach, we developed a three-CpG marker-based diagnostic model that was subsequently validated using bisulfite pyrosequencing experiments. According to the validation cohort, this cost-effective method discriminates between benign and malignant nodules with a sensitivity and specificity of 97 and 88%, respectively (positive predictive value (PPV): 0.85, negative predictive value (NPV): 0.98). Conclusions: Our classification system based on a minimal set of epigenetic biomarkers can complement the potential of the diagnostic techniques currently available and would prioritize a considerable number of surgical interventions that are often performed due to uncertain cytology. Significance statement: In recent years, there has been a significant increase in the number of people diagnosed with thyroid nodules. The current challenge is their etiological diagnosis to discount malignancy without resorting to thyroidectomy. The method proposed here, based on DNA pyrosequencing assays, has high sensitivity (0.97) and specificity (0.88) for the identification of malignant thyroid nodules. This simple and cost-effective approach can complement expert pathologist evaluation to prioritize the classification of difficult-to-diagnose follicular-patterned thyroid lesions and track tumor evolution, including real-time monitoring of treatment efficacy, thereby stimulating adherence to health promotion programs.

Fulminant Sepsis Caused by Leclercia adecarboxylata in a Premature Neonate: Case Report and Review of the Literature.

Hospital-acquired infections are especially evident in premature infants because of prolonged stays and the need for invasive procedures. Leclercia adecarboxylata is an uncommon emerging Gram-negative bacterium that has been described in catheter and noncatheter-related infections, immunocompromised patients and less frequently affecting healthy subjects. We report a case with a postmortem diagnosis of a 24-week-old premature neonate who died as a complication of nosocomial sepsis related to an infection by L. adecarboxylata. Although the cases of L. adecarboxylata infection in children have been rarely reported, this case appears to be the first in which an infection by L. adecarboxylata is accompanied by focal spontaneous ileal perforation.

Spontaneous twin anemia-polycythemia sequence from two donors to one recipient in a monochorionic triamniotic pregnancy: Case report and review of the literature.

Monochorionic triamniotic (MCTA) pregnancies present a high number of complications, mainly due to the presence of unbalanced vascular anastomoses, such as twin anemia-polycythemia sequence (TAPS). Previous reported cases related to TAPS are in twin pregnancies or only affect the monochorionic component of dichorionic triamniotic (DCTA) pregnancies. We report an exceptional case, the only one reported as far as we know, of a MCTA pregnancy that developed a TAPS in which the three triplets are implicated, from two donors to one recipient. The pregnancy had been previously sonographically diagnosed as DCTA pregnancy and this could not explain the clinical results. The pathological study of the placenta showed the presence of three monochorionic dividing membranes, a congested area in the recipient parenchyma and two non-congested areas in the donor's parenchyma that confirmed the clinical findings. Pathological study of multiple placentas should always be done because it provides understanding of pregnancy complications.

Diagnosis of amyopathic dermatomyositis after two intrauterine fetal deaths.

Chronic histiocytic intervillositis (CHIV) is an uncommon condition, characterized by an infiltrate of mononuclear cells of maternal origin in the intervillous space that has been related to placenta insufficiency and poor perinatal outcomes. The aetiology is unclear, although maternal immunological aggression toward fetal tissues has been proposed. Dermatomyositis (DM) is a multisystem autoimmune inflammatory myopathy. Different autoantibodies have been associated with particular clinical phenotypes; presence of anti-melanoma differentiation-associated gen 5 (MDA5) antibody has been associated with rapidly progressive interstitial lung disease and severe skin lesions, none of which the woman had. Described here is a case of a woman diagnosed with amyopathic DM with positive anti-MDA5 antibodies after two intrauterine fetal deaths. Pathological examination of the placenta in both pregnancies showed CHIV. The presence of a potential relationship between both processes is discussed.

Maternal and perinatal outcomes and placental pathologic examination of 29 SARS-CoV-2 infected patients in the third trimester of gestation.

AIM: On December 31, 2019, an unknown outbreak of pulmonary disease was reported in China. The novel coronavirus SARS-CoV-2 was the etiologic agent of this disease, and responsible of the current pandemic of COVID-19. Accumulated evidence on placental features is based most on case-reports and small case-series, with differing results. METHODS: We gathered a cohort of 29 infected pregnant mothers who delivered 32 newborns, and had placentas available for pathologic examination. Placentas were compared with a control group. RESULTS: Of the 29 mothers, clinical and radiological features were similar to what was already described in COVID-19. Pregnancy modified some analytical parameters. One of the mothers succumbed to the disease. Of the 32 newborns, 1 developed an early infection, with positive reverse-transcriptase polymerase chain reaction (RT-PCR) at 48 h of life, with an initial RT-PCR negative. SARS-CoV-2 presence was assessed on placental tissue with immunohistochemistry and RT-PCR, both were negative. All newborns had good clinical outcomes. No differences in morphological placental findings were found among both groups. CONCLUSION: Lack of statistically significant differences among case and control groups suggest that placentas from SARS-CoV-2 infected mothers represent a cohort of normal placentas only submitted because of maternal SARS-CoV-2 status. To the best of our knowledge, no irrefutable cases of vertical transmission have been yet described. Other authors have failed to demonstrate presence of viral RNA in placental tissue. Accumulated knowledge suggests that if vertical transmission is possible, it is a rare event.

Treatment of infantile fibrosarcoma associated to an abdominal aortic aneurysm with larotrectinib: a case report.

Infantile fibrosarcoma (IFS) is a rare pediatric tumor which often presents the ETV6-NTRK3 gene fusion. NTRK3 encodes the neurotrophin-3 growth factor receptor tyrosine kinase, a druggable therapeutic target. Selective tropomyosin receptor kinase (TRK) inhibitors, such as larotrectinib, have shown efficacy and safety in the treatment of IFS. We report a case of an abdominal IFS diagnosed in a newborn associated with an aortic aneurysm that was successfully treated with larotrectinib without relevant adverse effects.

Hsa-miR-139-5p is a prognostic thyroid cancer marker involved in HNRNPF-mediated alternative splicing.

It is critical to identify biomarkers and functional networks associated with aggressive thyroid cancer to anticipate disease progression and facilitate personalized patient management. We performed miRNome sequencing of 46 thyroid tumors enriched with advanced disease patients with a median follow-up of 96 months. MiRNome profiles correlated with tumor-specific histopathological and molecular features, such as stromal cell infiltration and tumor driver mutation. Differential expression analysis revealed a consistent hsa-miR-139-5p downexpression in primary carcinomas from patients with recurrent/metastatic disease compared to disease-free patients, sustained in paired local metastases and validated in publicly available thyroid cancer series. Exogenous expression of hsa-miR-139-5p significantly reduced migration and proliferation of anaplastic thyroid cancer cells. Proteomic analysis indicated RICTOR, SMAD2/3 and HNRNPF as putative hsa-miR-139-5p targets in our cell system. Abundance of HNRNPF mRNA, encoding an alternative splicing factor involved in cryptic exon inclusion/exclusion, inversely correlated with hsa-miR-139-5p expression in human tumors. RNA sequencing analysis revealed 174 splicing events differentially regulated upon HNRNPF repression in our cell system, affecting genes involved in RTK/RAS/MAPK and PI3K/AKT/MTOR signaling cascades among others. These results point at the hsa-miR-139-5p/HNRNPF axis as a novel regulatory mechanism associated with the modulation of major thyroid cancer signaling pathways and tumor virulence.

Tumor fibroso solitario extra-intramedular de localización dorsal / Solitary fibrous tumor: A clinical case

Introducción: El tumor fibroso solitario (TFS) es un tumor poco frecuente de origen mesenquimal, que se localiza principalmente en pleura. De extraordinaria infrecuencia es su localización a nivel intraespinal, siendo la región torácica la más frecuente. Presentación del caso: Presentamos el caso de una paciente de 48 años con hipoestesia ascendente progresiva en miembros inferiores y mielopatía de un mes de evolución, que se diagnosticó de un tumor intraespinal en segmento D3-D4. Fue intervenida quirúrgicamente mediante abordaje dorsal posterior y laminoplastia D3-D4, hallándose un tumor intradural con componente intramedular, de 18×12mm, aproximadamente. La resección fue completa y la anatomía patológica resultó el diagnóstico de tumor fibroso solitario. La paciente, tras 7 meses de seguimiento se encuentra asintomática. Discusión: La resección completa tumoral junto con las características histopatológicas son los principales factores pronósticos, teniendo la cirugía un papel protagonista en este tipo de neoplasia. Conclusión: Son muy pocos los casos publicados en la literatura de tumor fibroso solitario con localización intraespinal. Con este artículo aportamos un nuevo caso a la misma

Introduction: Solitary fibrous tumor (TFS) is a rare tumor of mesenchymal origin, located mainly in the pleura. It is extraordinarily infrequent find it at the intraespinal level, being the thoracic region the most frequent. Case presentation: We present the case of a 48-year-old patient with progressive ascending lower limb and myelopathy of one month of evolution, with intraspinal location at the D3-D4 level. It was surgically operated by posterior dorsal approach and D3-D4 laminoplasty, with an intradural tumor with an intramedullary component of approximately 18×12mm. The resection was complete and the pathological anatomy gave the diagnosis of solitary fibrous tumor. The patient is currently asymptomatic. Discussion: Complete tumor resection and histopathological features are the main prognostic factors. Surgery have a main role in this type of neoplasia. Conclusion: There are few case published of solitary fibrous tumor with intraspinal localization. We apport another case to the literature

Solitary fibrous tumor: A clinical case. / Tumor fibroso solitario extra-intramedular de localización dorsal.

INTRODUCTION: Solitary fibrous tumor (TFS) is a rare tumor of mesenchymal origin, located mainly in the pleura. It is extraordinarily infrequent find it at the intraespinal level, being the thoracic region the most frequent. CASE PRESENTATION: We present the case of a 48-year-old patient with progressive ascending lower limb and myelopathy of one month of evolution, with intraspinal location at the D3-D4 level. It was surgically operated by posterior dorsal approach and D3-D4 laminoplasty, with an intradural tumor with an intramedullary component of approximately 18×12mm. The resection was complete and the pathological anatomy gave the diagnosis of solitary fibrous tumor. The patient is currently asymptomatic. DISCUSSION: Complete tumor resection and histopathological features are the main prognostic factors. Surgery have a main role in this type of neoplasia. CONCLUSION: There are few case published of solitary fibrous tumor with intraspinal localization. We apport another case to the literature.

Kaposi sarcoma secondary to endogenous adrenocorticotropic hormone-dependent Cushing syndrome.

Kaposi sarcoma (KS) is an angioproliferative tumour that develops as a result of an infection by human herpesvirus 8, which is considered a necessary cause but not sufficient. Other factors - genetic, immunological and environmental - might play a role in the development of the disease. We report a case of KS secondary to endogenous Cushing syndrome (ECS) due to a pituitary adenoma, an association that has been reported only once. We also conducted a search through the Medline and PubMed databases for cases involving KS and ECS, finding only three additional cases that shared common clinical and prognostic features with ours. ECS might favour the development of KS due to immunosuppression. Dermatologists and other clinicians should be aware of this association, as it might be an underdiagnosed condition. It also has an important impact on the management of KS, and based on this review it relies on a good prognosis when ECS is well controlled.

Malignant teratoma of the thyroid in a pregnant woman.

Most teratomas involving the thyroid gland are benign and occur in children. However, the adult cases reported are mostly malignant. Many of the cases previously described in the medical literature have fatal outcome because of spread of the tumor refractory to treatment. We report a case of primary malignant teratoma of the thyroid in a 38-year-old pregnant black woman. She was treated with a combination of surgery, and postoperative chemotherapy with good initial response.

[Leukemic infiltration of the urinary bladder. A new case and literature review]. / Infiltración vesical por leucemia linfoblástica aguda. A propósito de un caso y revisión de la literatura.

We expose you one case of leukemic infiltration of the urinary bladder. This kind of infiltration is rare so we reviewed the literature finding 14 cases since 1932. Although this hematological infiltration is very unusual, it should be considered in patients with leukemia and hematuria.

Infiltración vesical por leucemia linfoblástica aguda. A propósito de un caso y revisión de la literatura / Leukemic infiltration of the urinary bladder. A new case and literature review

Exponemos el caso de un paciente con infiltración vesical por Leucemia Aguda Linfoblástica. Debido a lo infrecuente de su presentación, revisamos la literatura publicada hasta el momento encontrando14 casos desde 1932. Aunque excepcional, en un paciente que presenta hematuria de novo o repetida y ha tenido como antecedentes alguna enfermedad hematológica, debemos pensar en la infiltración vesical por la leucemia como posible diagnóstico diferencial (AU)

We expose you one case of leukemic infiltration of the urinary bladder. This kind of infiltration is rare so we reviewed the literature finding 14 cases since 1932. Although this hematological infiltration is very unusual, it should be considered in patients with leukemia and hematuria (AU)

Granuloma por silicona líquida en regiones pretibiales tras su inyección en región glútea / Silicone granuloma in pretibial regions after its injection in gluteal region

En la actualidad, la inyección de materiales en el subcutáneo con fin estético es frecuente. Comunicamos el caso de una paciente con lesiones esclerodermiformesen ambas regiones pretibiales, en cuyo estudio histopatológico se observó un granuloma por silicona. Años atrás la paciente se había sometido ala inyección de un material de relleno en la región glútea. Se trata, por tanto, de un granuloma de cuerpo extraño por silicona que ha migrado a distanciadel lugar de la inoculación. El diagnóstico de este cuadro puede ser difícil. El tratamiento es complicado y, en general, no satisfactorio

Nowadays inoculation of materials for soft tissues augmentation is common. We report the case of a woman with sclerodermiform lessions in pretibialregions, characterized by a silicone granuloma. The histopathologic study in some years ago, she have seen inoculated of an unknown material in glutealregion. This case is a foreing body granuloma caused by silicone migrated from the inoculation site. Diagnosis of this conditions disease may bedifficult, and treatment is often unsatisfactory

[Annular elastolytic giant cell granuloma: a case report located in non-sun exposed areas]. / Granuloma elastolítico anular de células gigantes: a propósito de un caso localizado en áreas no fotoexpuestas.

Annular elastolytic giant cell granuloma (AEGCG) is an uncommon entity clinically characterized by erythematous annular plaques with atrophic and hypopigmented center, that predominates in sun-exposed zones. The histology shows a granulomatous infiltrate without palisading image, made up of lymphocytes, histiocytes and giant cells, with phagocytosis of elastic fibers, without necrobiosis or mucin deposit. We present the case of a male patient with atypical clinical manifestation on the non-sun exposed skin and AEGCG characteristic histology.