RESUMEN
During oocyte differentiation in mouse fetal ovaries, sister germ cells are connected by intercellular bridges, forming germline cysts. Within the cyst, primary oocytes form via gaining cytoplasm and organelles from sister germ cells through germ cell connectivity. To uncover the role of intercellular bridges in oocyte differentiation, we analyzed mutant female mice lacking testis-expressed 14 (TEX14), a protein involved in intercellular bridge formation and stabilization. In Tex14 homozygous mutant fetal ovaries, germ cells divide to form a reduced number of cysts in which germ cells remained connected via syncytia or fragmented cell membranes, rather than normal intercellular bridges. Compared with wild-type cysts, homozygous mutant cysts fragmented at a higher frequency and produced a greatly reduced number of primary oocytes with precocious cytoplasmic enrichment and enlarged volume. By contrast, Tex14 heterozygous mutant germline cysts were less fragmented and generate primary oocytes at a reduced size. Moreover, enlarged primary oocytes in homozygous mutants were used more efficiently to sustain folliculogenesis than undersized heterozygous mutant primary oocytes. Our observations directly link the nature of fetal germline cysts to oocyte differentiation and development.
Asunto(s)
Quistes/embriología , Quistes/genética , Células Germinativas/citología , Células Germinativas/metabolismo , Mutación , Oogénesis/genética , Factores de Transcripción/genética , Animales , Diferenciación Celular/genética , Regulación del Desarrollo de la Expresión Génica , Heterocigoto , Homocigoto , Ratones , Oocitos/citología , Oocitos/metabolismo , Factores de Transcripción/metabolismoAsunto(s)
Ganglios Basales/anomalías , Plexo Coroideo/embriología , Eminencia Media/anomalías , Malformaciones del Sistema Nervioso/diagnóstico por imagen , Ultrasonografía Prenatal , Aborto Eugénico , Ganglios Basales/diagnóstico por imagen , Ganglios Basales/embriología , Plexo Coroideo/diagnóstico por imagen , Neoplasias del Plexo Coroideo/diagnóstico por imagen , Neoplasias del Plexo Coroideo/embriología , Quistes/diagnóstico por imagen , Quistes/embriología , Diagnóstico Diferencial , Femenino , Humanos , Hidrocefalia/diagnóstico por imagen , Hidrocefalia/embriología , Eminencia Media/diagnóstico por imagen , Eminencia Media/embriología , Ilustración Médica , Malformaciones del Sistema Nervioso/embriología , EmbarazoRESUMEN
BACKGROUND: May-Hegglin anomaly is an autosomal dominant inherited condition, characterized by thrombocytopenia, giant platelets and Dohle-like bodies. Incidence is unknown and affected individuals can show from mild to moderate-severe haemorrhagic symptoms. The cyst of cavum veli interpositi (a virtual space filled with fluid within the third ventricle) is rarely reported in the foetal period. Furthermore, it is unclear whether isolated cavum veli interpositi cysts are a normal variant or developmental malformations. The simultaneous presence of these two anomalies was never described. CASE PRESENTATION: We describe a very rare case of a twin monochorionic pregnancy in a woman with the May-Hegglin anomaly, whose foetuses carried cavum veli interpositi cysts. Since childhood, our patient had shown macro-thrombocytopenia, deafness and bleeding (epistaxis and menorrhagia), but she was misdiagnosed until the age of 30 years when our Centre identified a de novo allelic variant in the gene MYH9 coding for the non-muscle myosin heavy chain IIa. Our patient bled neither during the pregnancy, nor in the peripartum period. Children are now eight-months-old and have never bled, although both inherited the MYH9 variant and have thrombocytopenia with giant platelets. Furthermore, none of them developed psychomotor disorders. CONCLUSIONS: To the best of our knowledge, this is the sixth case of twin pregnancy in a woman carrying May-Hegglin anomaly and the first one with cavum veli interpositi cysts in the neonates. We speculate that MYH9 could have, at least in part, played a role in the development of both conditions, as this gene has a pleiotropic effect.
Asunto(s)
Quistes/diagnóstico por imagen , Pérdida Auditiva Sensorineural/genética , Complicaciones del Embarazo/genética , Tercer Ventrículo/anomalías , Trombocitopenia/congénito , Adulto , Quistes/embriología , Quistes/genética , Femenino , Pérdida Auditiva Sensorineural/diagnóstico , Humanos , Recién Nacido , Embarazo , Complicaciones del Embarazo/diagnóstico , Resultado del Embarazo , Embarazo Gemelar , Trombocitopenia/diagnóstico , Trombocitopenia/genética , Ultrasonografía PrenatalRESUMEN
Retinal coloboma is a rare condition which is difficult to diagnose in foetuses. It can cause blindness. It can be isolated or associated with other malformations in various syndromes. Our objective is to describe the different prenatal ultrasound findings and management of coloboma. We describe a case of prenatal ultrasound diagnosis of retinal coloboma at 27.5 weeks of gestation. Our case adds to the 8 previously reported in the prenatal ultrasound literature, which together illustrate that microphthalmia is the main associated sign, present in 66.6% (6/9) of cases followed by retro-orbital cysts (44.4%) (4/9). These two ultrasound findings should alert us to a close examination of the eye to look for a posterior retinal cleft, the main direct sign of a chorioretinal coloboma.
Asunto(s)
Coloboma/diagnóstico por imagen , Coloboma/embriología , Enfermedades de la Retina/diagnóstico por imagen , Enfermedades de la Retina/embriología , Adulto , Quistes/diagnóstico por imagen , Quistes/embriología , Femenino , Edad Gestacional , Humanos , Órbita , Embarazo , Ultrasonografía PrenatalAsunto(s)
Encefalopatías/diagnóstico por imagen , Plexo Coroideo/diagnóstico por imagen , Quistes/diagnóstico por imagen , Ultrasonografía Prenatal/métodos , Aborto Inducido , Adulto , Encefalopatías/embriología , Plexo Coroideo/embriología , Quistes/embriología , Femenino , Humanos , Nigeria , EmbarazoRESUMEN
OBJECTIVE: Cavum veli interpositi (CVI) is a potential space below the splenium of corpus callosum and sometimes presents as a cyst. MATERIALS AND METHODS: In this prospective cross-sectional study, 360 fetuses with normal second trimester scan and 152 s trimester fetuses with structural abnormalities were included. RESULTS: The CVI cysts were more common in fetuses with brain anomaly compared to normal fetuses and fetuses with extra-central nervous system (CNS) anomalies (23% vs 18.3% and 18% respectively; p value < 0.01). The mean size of cysts in normal fetuses, fetuses with extra-CNS anomalies and fetuses with brain abnormalities was 4.6 mm, 5.8 mm and 9.2 mm respectively. There was a significant difference between cysts size in normal fetuses and fetuses with brain anomalies (p value < 0.01) and the cut-point was 7.1 mm. CONCLUSION: The prevalence of CVI cysts is more in fetuses with brain anomaly. Fetuses with a cyst size >7.1 mm need a more detailed brain examination.
Asunto(s)
Encefalopatías/diagnóstico , Ventrículos Cerebrales/diagnóstico por imagen , Quistes/diagnóstico , Enfermedades Fetales/diagnóstico , Segundo Trimestre del Embarazo , Ultrasonografía Prenatal/métodos , Adulto , Encefalopatías/embriología , Encefalopatías/epidemiología , Ventrículos Cerebrales/embriología , Estudios Transversales , Quistes/embriología , Quistes/epidemiología , Diagnóstico Diferencial , Femenino , Enfermedades Fetales/epidemiología , Estudios de Seguimiento , Humanos , Irán/epidemiología , Masculino , Embarazo , Prevalencia , Estudios ProspectivosRESUMEN
OBJECTIVES: When identified prenatally, the imaging triad of asymmetric ventriculomegaly, interhemispheric cyst, and dysgenesis of the corpus callosum (AVID) can indicate a more serious congenital brain anomaly. In this follow-up series of 15 fetuses, we present the neurodevelopmental outcomes of a single institution cohort of children diagnosed prenatally with AVID. METHODS: Our fetal ultrasound database was queried for cases of AVID between 2000 and 2016. All available fetal MR imaging studies were reviewed for the presence of (a) interhemispheric cysts or ventricular diverticula and (b) dysgenesis or agenesis of the corpus callosum. Clinical records were reviewed for perinatal management, postnatal surgical management, and neurodevelopmental outcomes. RESULTS: Fifteen prenatal cases of AVID were identified. Twelve were live-born and three pregnancies were terminated. Of the 12 patients, 11 underwent neurosurgical intervention. Of the eight patients surviving past infancy, seven of eight have moderate to severe neurodevelopmental delays or disabilities, encompassing both motor and language skills, and all have variable visual abnormalities. CONCLUSION: In our cohort of 15 prenatally diagnosed fetuses with AVID, eight survived past infancy and all have neurodevelopmental disabilities, including motor and language deficits, a wide range of visual defects, craniofacial abnormalities, and medical comorbidities.
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Agenesia del Cuerpo Calloso/diagnóstico por imagen , Encefalopatías/diagnóstico por imagen , Cerebro/diagnóstico por imagen , Quistes/diagnóstico por imagen , Hidrocefalia/diagnóstico por imagen , Diagnóstico Prenatal/métodos , Anomalías Múltiples/epidemiología , Agenesia del Cuerpo Calloso/embriología , Agenesia del Cuerpo Calloso/cirugía , Encefalopatías/embriología , Encefalopatías/cirugía , Cerebro/embriología , Estudios de Cohortes , Quistes/embriología , Quistes/cirugía , Femenino , Estudios de Seguimiento , Edad Gestacional , Humanos , Hidrocefalia/cirugía , Recién Nacido , Imagen por Resonancia Magnética , Masculino , Trastornos del Neurodesarrollo/epidemiología , Embarazo , Ultrasonografía PrenatalRESUMEN
Tooth enamel is manufactured by the inner enamel epithelium of the multilayered enamel organ. Msx2 loss-of-function mutation in a mouse model causes an abnormal accumulation of epithelial cells in the enamel organ, but the underlying mechanism by which Msx2 regulates amelogenesis is poorly understood. We therefore performed detailed histological and molecular analyses of Msx2 null mice. Msx2 null ameloblasts and stratum intermedium (SI) cells differentiated normally in the early stages of amelogenesis. However, during subsequent developmental stages, the outer enamel epithelium (OEE) became highly proliferative and transformed into a keratinized stratified squamous epithelium that ectopically expressed stratified squamous epithelium markers, including Heat shock protein 25, Loricrin, and Keratin 10. Moreover, expression of hair follicle-specific keratin genes such as Keratin 26 and Keratin 73 was upregulated in the enamel organ of Msx2 mutants. With the accumulation of keratin in the stellate reticulum (SR) region and subsequent odontogenic cyst formation, SI cells gradually lost the ability to differentiate, and the expression of Sox2 and Notch1 was downregulated, leading to ameloblast depolarization. As a consequence, the organization of the Msx2 mutant enamel organ became disturbed and enamel failed to form in the normal location. Instead, there was ectopic mineralization that likely occurred within the SR. In summary, we show that during amelogenesis, Msx2 executes a bipartite function, repressing the transformation of OEE into a keratinized stratified squamous epithelium while simultaneously promoting the development of a properly differentiated enamel organ competent for enamel formation.
Asunto(s)
Órgano del Esmalte/metabolismo , Epitelio/metabolismo , Proteínas de Homeodominio/metabolismo , Ameloblastos/metabolismo , Animales , Diferenciación Celular , Proliferación Celular , Quistes/embriología , Quistes/metabolismo , Microanálisis por Sonda Electrónica , Órgano del Esmalte/embriología , Epitelio/embriología , Genotipo , Hibridación in Situ , Etiquetado Corte-Fin in Situ , Ratones , Ratones Noqueados , Microscopía Electrónica de Transmisión , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa , Microtomografía por Rayos XRESUMEN
Cdc42, a Rho family small GTPase, regulates cytoskeleton organization, vesicle trafficking, and other cellular processes in development and homeostasis. However, Cdc42's roles in prenatal tooth development remain elusive. Here, we investigated Cdc42 functions in mouse enamel organ. Cdc42 showed highly dynamic temporospatial patterns in the developing enamel organ, with robust expression in the outer enamel epithelium, stellate reticulum (SR), and stratum intermedium layers. Strikingly, epithelium-specific Cdc42 deletion resulted in cystic lesions in the enamel organ. Cystic lesions were first noted at embryonic day 15.5 and progressively enlarged during gestation. At birth, cystic lesions occupied the bulk of the entire enamel organ, with intracystic erythrocyte accumulation. Ameloblast differentiation was retarded upon epithelial Cdc42 deletion. Apoptosis occurred in the Cdc42 mutant enamel organ prior to and synchronously with cystogenesis. Transmission electron microscopy examination showed disrupted actin assemblies, aberrant desmosomes, and significantly fewer cell junctions in the SR cells of Cdc42 mutants than littermate controls. Autophagosomes were present in the SR cells of Cdc42 mutants relative to the virtual absence of autophagosome in the SR cells of littermate controls. Epithelium-specific Cdc42 deletion attenuated Wnt/ß-catenin and Shh signaling in dental epithelium and induced aberrant Sox2 expression in the secondary enamel knot. These findings suggest that excessive cell death and disrupted cell-cell connections may be among multiple factors responsible for the observed cystic lesions in Cdc42 mutant enamel organs. Taken together, Cdc42 exerts multidimensional and pivotal roles in enamel organ development and is particularly required for cell survival and tooth morphogenesis.
Asunto(s)
Quistes/embriología , Órgano del Esmalte/embriología , Epitelio/embriología , Proteínas de Unión al GTP rho/metabolismo , Actinas/metabolismo , Ameloblastos/metabolismo , Animales , Apoptosis , Autofagosomas/metabolismo , Western Blotting , Diferenciación Celular , Proteínas del Citoesqueleto , Etiquetado Corte-Fin in Situ , Uniones Intercelulares/metabolismo , Ratones , Microscopía Electrónica de Transmisión , Reacción en Cadena en Tiempo Real de la PolimerasaRESUMEN
INTRODUCTION: Rectal duplication cysts are rare cystic lesions, arising from the hindgut and classified as congenital/developmental tumors of the presacral space. Their clinical presentation is nonspecific, the diagnosis remains difficult and their management is aided by a multidisciplinary evaluation. CASE REPORT: We report the case of a 55-year-old woman with a cystic mass located in the retrorectal space and identified incidentally on a CT scan. Following imaging studies, surgical resection by a posterior approach (Kraske procedure) was carried out and an adenocarcinoma arising in a duplication cyst of the rectum was present an uncommon case of a rectal duplication cyst with malignant transformation and distant metastasis, describe the clinical, radiologic and pathologic findings and discuss tidentified by microscopy. CONCLUSION: We phe embryological basis of rectal duplication cysts and the surgical anatomy of the presacral space. Key Words: Rectal adenocarcinoma, rectal duplication cyst, Retrorectal space.
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Adenocarcinoma Mucinoso/secundario , Quistes/complicaciones , Neoplasias del Recto/etiología , Recto/anomalías , Adenocarcinoma Mucinoso/diagnóstico por imagen , Adenocarcinoma Mucinoso/etiología , Apendicectomía , Apendicitis/complicaciones , Apendicitis/cirugía , Transformación Celular Neoplásica , Cóccix/patología , Quistes/diagnóstico por imagen , Quistes/embriología , Femenino , Humanos , Hallazgos Incidentales , Neoplasias Pulmonares/secundario , Imagen por Resonancia Magnética , Persona de Mediana Edad , Invasividad Neoplásica , Neoplasias del Recto/diagnóstico por imagen , Recto/diagnóstico por imagen , Recto/embriología , Tomografía Computarizada por Rayos XRESUMEN
Autosomal dominant polycystic kidney disease (ADPKD) is a common monogenic disease characterized by massive enlargement of fluid-filled cysts in the kidney. There is an urgent need to develop effective ADPKD therapies. We used an in vitro Madin-Darby canine kidney (MDCK) cyst model and a murine embryonic kidney cyst model to evaluate whether quercetin inhibits cyst development. We then used a polycystic kidney disease (PKD) mouse model to further determine the in vivo effects of quercetin (100 mg per kg body weight twice per day) on PKD mice via subcutaneous injections. The results show that quercetin significantly and dose-dependently inhibited cyst formation and enlargement in the MDCK cyst and embryonic kidney cyst models. Quercetin also noticeably reduced the cystic index in PKD mice. Furthermore, the effective dose of quercetin did not cause cytotoxicity in MDCK cells. Quercetin treatment decreased the levels of intracellular signalling proteins in PKD mouse kidneys, including phosphorylated protein kinase B (also known as AKT) and phosphorylated extracellular signal-regulated kinase (ERK), which are upregulated and promote cyst development in ADPKD. Quercetin also reversed E-cadherin expression, which is localized in normal proximal tubules in PKD mouse kidneys. Taken together, these results demonstrate that quercetin hinders renal cyst development in vivo and in vitro and represents a novel candidate strategy for the treatment of ADPKD.
Asunto(s)
Riñón Poliquístico Autosómico Dominante/tratamiento farmacológico , Quercetina/administración & dosificación , Animales , Quistes/tratamiento farmacológico , Quistes/embriología , Quistes/genética , Modelos Animales de Enfermedad , Perros , Quinasas MAP Reguladas por Señal Extracelular/genética , Quinasas MAP Reguladas por Señal Extracelular/metabolismo , Humanos , Infusiones Parenterales , Riñón/efectos de los fármacos , Ratones , Ratones Endogámicos C57BL , Fosforilación , Riñón Poliquístico Autosómico Dominante/embriología , Riñón Poliquístico Autosómico Dominante/genética , Proteínas Proto-Oncogénicas c-akt/genética , Proteínas Proto-Oncogénicas c-akt/metabolismo , Canales Catiónicos TRPP/genética , Canales Catiónicos TRPP/metabolismoRESUMEN
Rare mutations in IRF6 and GRHL3 cause Van der Woude syndrome, an autosomal dominant orofacial clefting disorder. Common variants in IRF6 and GRHL3 also contribute risk for isolated orofacial clefting. Similarly, variants within genes that encode receptor tyrosine kinase (RTK) signaling components, including members of the FGF pathway, EPHA3 and SPRY2, also contribute risk for isolated orofacial clefting. In the mouse, loss of Irf6 or perturbation of Fgf signaling leads to abnormal oral epithelial adhesions and cleft palate. Oral adhesions can result from a disruption of periderm formation. Here, we find that IRF6 and SPRY4 signaling interact in periderm function. We crossed Irf6 heterozygous ( Irf6+/-) mice with transgenic mice that express Spry4 in the basal epithelial layer ( TgKRT14::Spry4). While embryos with either of these mutations can have abnormal oral adhesions, using a new quantitative assay, we observed a nonadditive effect of abnormal oral epithelial adhesions in the most severely affected double mutant embryos ( Irf6+/-;TgKRT14::Spry4). At the molecular level, the sites of abnormal oral adhesions maintained periderm-like cells that express keratin 6, but we observed abnormal expression of GRHL3. Together, these data suggest that Irf6 and RTK signaling interact in regulating periderm differentiation and function, as well as provide a rationale to screen for epistatic interactions between variants in IRF6 and RTK signaling pathway genes in human orofacial clefting populations.
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Labio Leporino/genética , Fisura del Paladar/genética , Factores Reguladores del Interferón/genética , Proteínas del Tejido Nervioso/genética , Adherencias Tisulares/genética , Anomalías Múltiples/embriología , Anomalías Múltiples/genética , Animales , Labio Leporino/embriología , Fisura del Paladar/embriología , Quistes/embriología , Quistes/genética , Modelos Animales de Enfermedad , Anomalías Maxilomandibulares/embriología , Anomalías Maxilomandibulares/genética , Labio/anomalías , Labio/embriología , Ratones , Ratones Transgénicos , Anomalías de la Boca/embriología , Anomalías de la Boca/genética , Mutación , Fenotipo , Transducción de Señal , Adherencias Tisulares/embriologíaRESUMEN
OBJECTIVE: Third ventricular cerebrospinal fluid (CSF) cysts of thalamic origin are rare. The objective of this study is to review their possible pathogenesis, clinical presentation, and management strategies with a case series describing management via an endoscopic approach with fenestration using a single burr-hole technique. METHODS: A systematic literature review of reported cases of thalamic cysts was conducted with further meta-analysis of CSF cysts that involve the third ventricle. The mode of presentation, pathologic analysis, surgical management, and outcomes were analyzed. RESULTS: Twenty-two studies reported between 1990 and 2013 described 42 cases of thalamic cyst. Of those cases, 13 were consistent with CSF cyst that originated in the thalamus and involved the third ventricle. Eight cases (61.5%) were treated via endoscopic fenestration, 2 cases (15.4%) were surgically drained, 2 cases (15.4%) were stereotactically aspirated, and 1 case (7.69%) was observed. The most common presenting symptoms were gait disturbance (26.3%) and headaches (26.3%) followed by tremors (15.8%) and weakness (15.8%). In our series, a single burr-hole technique was a successful definitive treatment, with an average period of 23 months. CONCLUSIONS: Third ventricular CSF cysts of thalamic origin most commonly present with hydrocephalus. They can be safely definitively treated via endoscopic fenestration to the CSF circulation using a single burr-hole technique. Long-term follow-up shows lasting improvement in symptoms without reaccumulation of the cyst.
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Quistes/cirugía , Enfermedades Talámicas/cirugía , Tercer Ventrículo/cirugía , Líquido Cefalorraquídeo , Quistes/complicaciones , Quistes/embriología , Quistes/patología , Drenaje/métodos , Humanos , Hidrocefalia/etiología , Neuroendoscopía/métodos , Procedimientos Neuroquirúrgicos/métodos , Enfermedades Talámicas/complicaciones , Enfermedades Talámicas/embriología , Enfermedades Talámicas/patología , Tercer Ventrículo/embriología , Tercer Ventrículo/patología , Ventriculostomía/métodosRESUMEN
INTRODUCTION: We report the rare finding of recurrent periventricular pseudocysts (PVPC) in consecutive pregnancies in 4 families and their postnatal outcome. MATERIALS AND METHODS: We reviewed the databases of 3 large ultrasound units searching for the diagnosis of PVPC in 2 pregnancies of the same patient. RESULTS: The first case of recurrent PVPC was diagnosed in 2011 and since then 3 additional families were diagnosed (8 cases of PVPC all in all). All fetuses underwent fetal MRI that confirmed the presence of frontal or frontocaudal PVPC. Amniocentesis, when performed, demonstrated a normal karyotype. Termination of pregnancy was carried out in 2 pregnancies in 2 of 4 families. The remaining 6 pregnancies ended with a term delivery, and to date all babies are developing normally. CONCLUSION: The rare finding of recurrent brain PVPC in consecutive pregnancies raises the possibility of a hereditary etiology as opposed to a sporadic event. As in isolated PVPC, frontocaudal 'familial PVPC' appears to carry a favorable prognosis.
Asunto(s)
Neoplasias Encefálicas/diagnóstico por imagen , Quistes/diagnóstico por imagen , Salud de la Familia , Aborto Inducido , Proteínas Adaptadoras Transductoras de Señales/genética , Neoplasias Encefálicas/embriología , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/patología , Estudios de Cohortes , Quistes/embriología , Quistes/genética , Quistes/patología , Proteínas del Citoesqueleto , Análisis Mutacional de ADN , Registros Electrónicos de Salud , Femenino , Estudios de Seguimiento , Lóbulo Frontal , Humanos , Recién Nacido , Israel , Imagen por Resonancia Magnética , Proteínas de la Membrana/genética , Mutación , Embarazo , Pronóstico , Estudios Retrospectivos , Nacimiento a Término , Carga Tumoral , Ultrasonografía PrenatalRESUMEN
We present a female neonate born with prune belly syndrome (PBS) in whom a large intraabdominal cyst was diagnosed at 12weeks of gestation. Rapid and exponential growth of the cyst caused pressure effects on the intraabdominal organs and stretching of the anterior abdominal wall by 19weeks of gestation. This led to drainage of the massive cyst at 20weeks of gestation to prevent fetal demise. This case provides further clues to the likely etiology of PBS: transient stretching and attenuation of the fetal abdominal wall secondary to gross fetal abdominal distension - from any cause.
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Pared Abdominal/anomalías , Pared Abdominal/embriología , Quistes/embriología , Síndrome del Abdomen en Ciruela Pasa/embriología , Adulto , Quistes/diagnóstico por imagen , Drenaje , Femenino , Muerte Fetal/prevención & control , Terapias Fetales , Humanos , Recién Nacido , Masculino , Embarazo , Síndrome del Abdomen en Ciruela Pasa/diagnóstico por imagen , Ultrasonografía PrenatalAsunto(s)
Quistes/diagnóstico por imagen , Dacriocistitis/diagnóstico por imagen , Obstrucción Nasal/diagnóstico por imagen , Adulto , Quistes/complicaciones , Quistes/embriología , Dacriocistitis/complicaciones , Dacriocistitis/embriología , Diagnóstico Diferencial , Femenino , Humanos , Obstrucción del Conducto Lagrimal/diagnóstico por imagen , Obstrucción del Conducto Lagrimal/embriología , Obstrucción del Conducto Lagrimal/etiología , Obstrucción Nasal/embriología , Obstrucción Nasal/etiología , Embarazo , Ultrasonografía Doppler en Color/métodos , Ultrasonografía Prenatal/métodosAsunto(s)
Quistes/patología , Hamartoma/patología , Imagen por Resonancia Magnética , Neoplasias Peritoneales/patología , Adulto , Transformación Celular Neoplásica/patología , Quistes/embriología , Femenino , Hamartoma/embriología , Humanos , Recién Nacido , Neoplasias Peritoneales/embriología , EmbarazoRESUMEN
OBJECTIVES: To identify at prenatal ultrasound (US) the features of apparently isolated subependymal pseudocysts (SEPC) that may indicate underlying pathology and should lead to further investigations. METHODS: This was a retrospective study of cases with SEPC detected on prenatal US and/or magnetic resonance imaging (MRI). Those with apparently isolated SEPC at US were classified into two groups as follows: Group 1 (n = 29): normal prenatal US and MRI (except for SEPC) and normal outcome; Group 2 (n = 12): normal prenatal cerebral US (except for SEPC) and abnormal prenatal cerebral MRI with or without abnormal outcome. A third group (n = 9) included cases with abnormal prenatal US and MRI. The latter cases with obvious cerebral abnormalities at US were excluded from the statistical analysis as they do not represent a diagnostic dilemma for clinicians. Groups 1 and 2 were analyzed, comparing them with respect to their SEPC characteristics (size, number, location in relation to the caudothalamic notch and the ventricular horns and morphology) and extracerebral abnormalities. RESULTS: The mean ± SD SEPC great axis was longer in Group 2 (11.67 ± 5.82 mm) than it was in Group 1 (8.00 ± 5.64 mm) (P = 0.021), suggesting an optimal cut-off for size of SEPC of ≥ 9 mm (sensitivity = 75%, specificity = 62%) to maximize sensitivity for predicting pathological outcome. SEPC adjacent to the temporal horns and SEPC located posterior to the caudothalamic notch were observed more frequently in Group 2, indicating their association with poor outcome (P = 0.003 and P = 0.003, respectively). Atypical morphology and extracerebral abnormalities were observed more frequently in Group 2 (P = 0.013 and P = 0.044, respectively). There was no statistically significant difference between groups for either number or location of cysts along the inferior wall or adjacent to the lateral wall of the frontal horns (P = 0.591 and P = 0.156, respectively). CONCLUSION: When apparently isolated SEPC are observed at prenatal US, further investigations should be performed under the following circumstances: (1) SEPC great axis ≥ 9 mm; (2) SEPC adjacent to the occipital and temporal horns; (3) SEPC located posterior to the caudothalamic notch; (4) SEPC with atypical morphology.
Asunto(s)
Encefalopatías/embriología , Quistes/embriología , Enfermedades Fetales/diagnóstico , Imagen por Resonancia Magnética/estadística & datos numéricos , Ultrasonografía Prenatal/estadística & datos numéricos , Adulto , Encefalopatías/diagnóstico por imagen , Quistes/diagnóstico por imagen , Femenino , Enfermedades Fetales/diagnóstico por imagen , Humanos , Recién Nacido , Valor Predictivo de las Pruebas , Embarazo , Resultado del Embarazo , Estudios Retrospectivos , Sensibilidad y EspecificidadRESUMEN
BACKGROUND: Neks, mammalian orthologs of the fungal protein kinase never-in-mitosis A, have been implicated in the pathogenesis of polycystic kidney disease. Among them, Nek1 is the primary protein inactivated in kat2J mouse models of PKD. RESULT: We report the expression pattern of Nek1 and characterize the renal cysts that develop in kat2J mice. Nek1 is detectable in all murine tissues but its expression in wild type and kat2J heterozygous kidneys decrease as the kidneys mature, especially in tubular epithelial cells. In the embryonic kidney, Nek1 expression is most prominent in cells that will become podocytes and proximal tubules. Kidney development in kat2J homozygous mice is aberrant early, before the appearance of gross cysts: developing cortical zones are thin, populated by immature glomeruli, and characterized by excessive apoptosis of several cell types. Cysts in kat2J homozygous mice form postnatally in Bowman's space as well as different tubular subtypes. Late in life, kat2J heterozygous mice form renal cysts and the cells lining these cysts lack staining for Nek1. The primary cilia of cells lining cysts in kat2J homozygous mice are morphologically diverse: in some cells they are unusually long and in others there are multiple cilia of varying lengths. CONCLUSION: Our studies indicate that Nek1 deficiency leads to disordered kidney maturation, and cysts throughout the nephron.
Asunto(s)
Proteínas de Ciclo Celular/genética , Quistes/genética , Regulación del Desarrollo de la Expresión Génica , Enfermedades Renales Poliquísticas/genética , Proteínas Serina-Treonina Quinasas/genética , Animales , Proteínas de Ciclo Celular/deficiencia , Quistes/embriología , Modelos Animales de Enfermedad , Embrión de Mamíferos/metabolismo , Embrión de Mamíferos/patología , Células Epiteliales/citología , Células Epiteliales/metabolismo , Células Epiteliales/patología , Femenino , Riñón/embriología , Riñón/metabolismo , Riñón/patología , Masculino , Ratones , Quinasa 1 Relacionada con NIMA , Enfermedades Renales Poliquísticas/embriología , Reacción en Cadena de la Polimerasa , Proteínas Serina-Treonina Quinasas/deficienciaRESUMEN
Prenatal sonography and magnetic resonance imaging of suprarenal fetal masses is presented, along with clinical information and follow-up. Imaging pearls and differential considerations for each diagnosis will be discussed. Fetal suprarenal mass diagnoses include neuroblastoma, extralobar pulmonary sequestration, congenital adrenal hyperplasia, partial multicystic dysplastic kidney, renal duplication, urinoma, gastric duplication cyst, and splenic cyst. Recognizing the range of malignant and benign suprarenal fetal masses that can present on prenatal imaging can help guide patient counseling and management.