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2.
Brain ; 135(Pt 2): 469-82, 2012 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-22323514

RESUMEN

Cobblestone lissencephaly represents a peculiar brain malformation with characteristic radiological anomalies, defined as cortical dysplasia combined with dysmyelination, dysplastic cerebellum with cysts and brainstem hypoplasia. Cortical dysplasia results from neuroglial overmigration into the arachnoid space, forming an extracortical layer, responsible for agyria and/or 'cobblestone' brain surface and ventricular enlargement. The underlying mechanism is a disruption of the glia limitans, the outermost layer of the brain. Cobblestone lissencephaly is pathognomonic of a continuum of autosomal recessive diseases with cerebral, ocular and muscular deficits, Walker-Warburg syndrome, muscle-eye-brain and Fukuyama muscular dystrophy. Mutations in POMT1, POMT2, POMGNT1, LARGE, FKTN and FKRP genes attributed these diseases to α-dystroglycanopathies. However, studies have not been able to identify causal mutations in the majority of patients and to establish a clear phenotype/genotype correlation. Therefore, we decided to perform a detailed neuropathological survey and molecular screenings in 65 foetal cases selected on the basis of histopathological criteria. After sequencing the six genes of α-dystroglycanopathies, a causal mutation was observed in 66% of cases. On the basis of a ratio of severity, three subtypes clearly emerged. The most severe, which we called cobblestone lissencephaly A, was linked to mutations in POMT1 (34%), POMT2 (8%) and FKRP (1.5%). The least severe, cobblestone lissencephaly C, was linked to POMGNT1 mutations (18%). An intermediary type, cobblestone lissencephaly B, was linked to LARGE mutations (4.5%) identified for the first time in foetuses. We conclude that cobblestone lissencephaly encompasses three distinct subtypes of cortical malformations with different degrees of neuroglial ectopia into the arachnoid space and cortical plate disorganization regardless of gestational age. In the cerebellum, histopathological changes support the novel hypothesis that abnormal lamination arises from a deficiency in granule cells. Our studies demonstrate the positive impact of histoneuropathology on the identification of α-dystroglycanopathies found in 66% of cases, while with neuroimaging criteria and biological values, mutations are found in 32-50% of patients. Interestingly, our morphological classification was central in the orientation of genetic screening of POMT1, POMT2, POMGNT1, LARGE and FKRP. Despite intensive research, one-third of our cases remained unexplained; suggesting that other genes and/or pathways may be involved. This material offers a rich resource for studies on the affected neurodevelopmental processes of cobblestone lissencephaly and on the identification of other responsible gene(s)/pathway(s).


Asunto(s)
Encéfalo/patología , Lisencefalia de Cobblestone/genética , Lisencefalia de Cobblestone/patología , Distroglicanos/genética , Encéfalo/metabolismo , Lisencefalia de Cobblestone/metabolismo , Distroglicanos/metabolismo , Femenino , Feto , Humanos , Recién Nacido , Masculino , Manosiltransferasas/genética , Manosiltransferasas/metabolismo , Proteínas de la Membrana/genética , Proteínas de la Membrana/metabolismo , N-Acetilglucosaminiltransferasas/genética , N-Acetilglucosaminiltransferasas/metabolismo , Pentosiltransferasa , Proteínas/genética , Proteínas/metabolismo
3.
J Appl Toxicol ; 30(4): 378-80, 2010 May.
Artículo en Inglés | MEDLINE | ID: mdl-19924677

RESUMEN

Lethal injection of potassium chloride (KCl) can be used as a method of either suicide or homicide. As biological tests are still inadequate to differentiate endogenous from exogenous potassium, at the scene of death the cause can only be suspected. We wished to determine the usefulness of conventional pathological examination in this context and carried out a study in four fetuses after medical termination of pregnancy for serious disease. Pregnancy was terminated by KCl injection in two cases and by injection of lidocaine and sufentanil in the other two cases. In each of the two fetuses in which KCl injection was performed, macroscopic examination showed whitish deposits on the tissues and histological examination showed clumps of lanceolate crystals in the internal organs. In the two fetuses which received lidocaine and sufentanil injection, no deposits were visible on macroscopic examination and no crystals were seen on histological examination. These findings suggest that pathological study may have useful applications in forensic medicine when death by potassium injection is suspected.


Asunto(s)
Patologia Forense/métodos , Cambios Post Mortem , Cloruro de Potasio/envenenamiento , Feto Abortado/patología , Aborto Eugénico/métodos , Aborto Inducido/métodos , Glándulas Suprarrenales/efectos de los fármacos , Glándulas Suprarrenales/embriología , Glándulas Suprarrenales/patología , Femenino , Corazón Fetal/efectos de los fármacos , Corazón Fetal/embriología , Corazón Fetal/patología , Humanos , Riñón/efectos de los fármacos , Riñón/embriología , Riñón/patología , Lidocaína/administración & dosificación , Páncreas/efectos de los fármacos , Páncreas/embriología , Páncreas/patología , Cloruro de Potasio/administración & dosificación , Cloruro de Potasio/farmacocinética , Embarazo , Sufentanilo/administración & dosificación
4.
Ann Pathol ; 26(1): 60-5, 2006 Feb.
Artículo en Francés | MEDLINE | ID: mdl-16841017

RESUMEN

Our findings on hearts of trisomic 21 fetuses of a new minor cardiac anomaly, belonging to the atrioventricular septal defect (AVSD) spectrum and the improved performances of the fetal ultrasound screening lend us to propose a new section, complementary to the standard cardiopathological examination. It would enable us to test the anatomic level of insertion of the atrioventricular valves of the crux of the heart. It consists of a section of the fetal hearts, fixed in formaldehyde, in a plane correlated to the plane of the fetal ultrasonographic four chamber view. Three hallmarks have been chosen because of their relevance and of their reproductibility in ultra sonography as well as in fetopathology: the apex and the inferior pulmonary veins. This additional section was realized on fetal hearts, regarded as "normal" with the standard pathologic examination, because of a lack of defect. It allowed us to detect a minor cardiac abnormality of the AVSD spectrum, frequent in the trisomic 21 fetuses, which we called: linear insertion of the atrio ventricular valves( LIAVV) without defect. Initially described on a series of Trisomic 21 fetal hearts, the LIAVV without defect has also been found in other fetuses with another pathology often associated with an anomaly of the AVSD spectrum. The possible detection of this abnormality in fetal cardiac ultrasound scanning justifies the use of this new anatomical technique. It also has to be included it in the full standard pathologic examination of the fetal hearts of all the abnormal fetuses.


Asunto(s)
Síndrome de Down/embriología , Síndrome de Down/cirugía , Corazón Fetal/diagnóstico por imagen , Válvulas Cardíacas/embriología , Válvulas Cardíacas/cirugía , Síndrome de Down/diagnóstico por imagen , Síndrome de Down/patología , Femenino , Corazón Fetal/patología , Válvulas Cardíacas/patología , Humanos , Embarazo , Ultrasonografía Prenatal
5.
Am J Clin Pathol ; 124(2): 252-8, 2005 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-16040297

RESUMEN

Meningiomas usually are benign intracranial tumors. However, some recur despite gross total resection, invade surrounding structures, or, rarely, metastasize. Reduced expression of the nonspecific tissue-type alkaline phosphatase (Pal) has been reported in high-grade meningiomas. To search for a predictor for recurrence, we studied Pal expression by histoenzymology in a series of 54 meningiomas with gross total removal. Pal expression was mostly altered in grades II and III meningiomas (P = .000014) and meningiomas with high MIB-1 values (P = .001). Pal expression correlated with cytogenetic data (P = .000033) and with recurrence (P = .0064); all tumors that recurred had abnormal Pal expression (13/13). In univariate analysis, Pal expression was the only variable correlated with recurrence-free survival (P = .035). Histochemical detection of Pal is a useful, easy, and low-cost technique to predict recurrence in meningiomas.


Asunto(s)
Fosfatasa Alcalina/biosíntesis , Biomarcadores de Tumor/análisis , Neoplasias Meníngeas/enzimología , Meningioma/enzimología , Recurrencia Local de Neoplasia/enzimología , Adulto , Anciano , Anciano de 80 o más Años , Aberraciones Cromosómicas , Femenino , Humanos , Inmunohistoquímica , Masculino , Neoplasias Meníngeas/genética , Neoplasias Meníngeas/patología , Meningioma/genética , Meningioma/patología , Persona de Mediana Edad , Recurrencia Local de Neoplasia/patología , Pronóstico
6.
J Matern Fetal Neonatal Med ; 18(2): 137-40, 2005 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-16203601

RESUMEN

Sartans are selective type 1 angiotensin II receptor-antagonists that are used in the treatment of arterial hypertension. Few reports are available concerning the use of sartans during pregnancy. We report two cases of adverse fetal outcome in hypertensive pregnancies exposed to sartans. In the first case, anamnios and fetal renal failure due to severe tubular dysgenesia led to termination of pregnancy in the 27th week. The second patient presented with hypocalvaria and developed fetal renal failure. The use of sartans during the two last trimesters of pregnancy should be strictly avoided.


Asunto(s)
Anomalías Múltiples/diagnóstico , Angiotensina II/antagonistas & inhibidores , Inhibidores de la Enzima Convertidora de Angiotensina/efectos adversos , Hipertensión/tratamiento farmacológico , Complicaciones Cardiovasculares del Embarazo/tratamiento farmacológico , Anomalías Múltiples/inducido químicamente , Anomalías Múltiples/diagnóstico por imagen , Adulto , Diagnóstico Diferencial , Femenino , Humanos , Recién Nacido , Masculino , Embarazo , Radiografía
7.
J Neurosurg ; 96(3): 619-23, 2002 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-11883852

RESUMEN

In this report, the authors review the case of a man with a neurocutaneous syndrome. He presented with an intracerebral melanocytoma associated with a blue nevus of the scalp; its location and its appearance during childhood supported the diagnosis of a nevus of Ota. Meningeal melanocytomas are increasingly being diagnosed, but remain rare. Primary meningeal malignant melanoma is the first differential diagnosis to eliminate. Despite their common embryonic origin. the association of a melanocytoma with a nevus of Ota is rare. A nevus of Ota exhibits the same melanocytic proliferation and affects the trigeminal nerve territory. An ocular effect is not always observed. In contrast to an ocular lesion, a nevus of Ota rarely transforms into a malignant melanoma. It is found only among caucasians. During 4 years of follow-up review after surgery, the patient remained asymptomatic. Other than antiepileptic therapy, he received no complementary treatment and cerebral imaging revealed no evidence of recurrence.


Asunto(s)
Melanoma/cirugía , Neoplasias Meníngeas/cirugía , Neoplasias Primarias Múltiples/cirugía , Síndromes Neurocutáneos/cirugía , Nevo de Ota/cirugía , Adulto , Biopsia , Procedimientos Quirúrgicos Dermatologicos , Humanos , Masculino , Melanoma/diagnóstico , Melanoma/patología , Neoplasias Meníngeas/diagnóstico , Neoplasias Meníngeas/patología , Meninges/patología , Meninges/cirugía , Neoplasias Primarias Múltiples/diagnóstico , Neoplasias Primarias Múltiples/patología , Síndromes Neurocutáneos/diagnóstico , Síndromes Neurocutáneos/patología , Nevo de Ota/diagnóstico , Nevo de Ota/patología , Piel/patología , Neoplasias Cutáneas/diagnóstico , Neoplasias Cutáneas/patología , Neoplasias Cutáneas/cirugía
9.
J Forensic Sci ; 49(5): 912-7, 2004 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-15461089

RESUMEN

With regard to the law, estimating fetal age is essential to assess viability (after 20 weeks according to the WHO) and the proposed methods generally use long bone measurements. Here, we evaluated the accuracy of soft tissue maturational stage and compared it with long bone measurements. First, eight kinds of tissues or organs from 448 fetuses with known medical history were studied (macroscopically or histologically). We clearly demonstrated that adrenal glands and skin were very good age indicators, because some characteristics appeared only after 20 weeks. We established a linear regression with a 95% confidence interval of +/- 2.9 weeks. Second, we applied our original formula using femur measurement and we combined soft tissues and bones in a multiparametric regression. The confidence interval was reduced to +/- 2.5 weeks. We conclude that the pathologist must use both histological and anthropometric data to determine fetal age as accurately as possible.


Asunto(s)
Feto/anatomía & histología , Antropología Forense/métodos , Edad Gestacional , Vísceras/embriología , Fémur/embriología , Desarrollo Fetal , Humanos , Modelos Lineales
10.
Ann Pathol ; 22(4): 259-66, 2002 Sep.
Artículo en Francés | MEDLINE | ID: mdl-12410148

RESUMEN

Myxoid bone tumors of the skull encompass chordomas and chondrosarcomas. Their accurate diagnosis is usually a challenge and it is of utmost importance to identify chordomas because of the poorer prognosis. Even if the topography of the tumor is suggestive (median versus lateral), modern imaging is not specific enough and the diagnosis is based on histological features. We report nine cases of myxoid bone tumors of the skull including four chordomas, one chondroid chordoma and four chondrosarcomas. Smears are useful for rapid intraoperative diagnosis. Chondrosarcomas show cords of small round cells in a myxoid background while chordomas are made of multilayered sheets of larger, often vacuolated cells. Histology shows areas of cartilaginous matrix associated with myxoid areas in chondrosarcomas and in chondroid chordomas. Immunohistochemistry is determinant showing the expression of epithelial markers and Tau protein in chordomas only.


Asunto(s)
Neoplasias Óseas/patología , Cordoma/patología , Neoplasias Craneales/patología , Adulto , Anciano , Condrosarcoma/patología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Pronóstico
11.
Lung Cancer ; 75(3): 293-9, 2012 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-21975144

RESUMEN

Accurate distinction of lung cancer types has become increasingly important as recent trials have shown differential response to chemotherapy among non-small cell lung carcinoma (NSCLC) subtypes. Cytological procedures are frequently used but their diagnostic accuracy has been previously questioned. However, new endoscopic and cytological techniques might have improved cytological accuracy in comparison with prior findings. The aim of this study was to reassess cytological accuracy for diagnosis of lung cancer subtypes. A retrospective chart review of subjects who underwent fiberoptic bronchoscopy (FOB) for suspicion of lung cancer in 2007-2008, was undertaken. Reports of bronchoscopically derived cytological specimens were compared to those of histological material. Endoscopic findings and specific investigational techniques were taken into account. A total of 467 FOB with both cytological and histological diagnostic techniques were performed in 449 subjects. Patients consisted of 345 men and 104 women (median age, 65 yrs). Cytology proved malignancy in 157 patients. Cytologically diagnosed carcinomas were classified into squamous cell carcinoma (SqCC) in 56, adenocarcinoma (ADC) in 6, small cell lung carcinoma (SCLC) in 12, non-small cell lung carcinoma not otherwise specified (NSCLC-NOS) in 71, and unclassified carcinoma in 12. Cytology correlated fairly with biopsy specimens, as agreement was observed in 83% of SCLC, 100% of ADC, 74% of SqCC and 8% of NSCLC-NOS. Interestingly, 61% of cytologically identified NSCLC-NOS were classified as ADC by histology. Cytological accuracy improved in case of an endobronchial lesion, mainly for SqCC. These results indicate that cytological accuracy remains fair with regard to diagnosis of squamous and non-squamous lung cancer subtypes. Improvement of cytological accuracy is expected however with novel diagnostic strategies.


Asunto(s)
Neoplasias Pulmonares/diagnóstico , Neoplasias Pulmonares/patología , Adenocarcinoma/diagnóstico , Adenocarcinoma/patología , Adenocarcinoma del Pulmón , Adulto , Anciano , Anciano de 80 o más Años , Biopsia con Aguja , Broncoscopía/métodos , Carcinoma de Pulmón de Células no Pequeñas/diagnóstico , Carcinoma de Pulmón de Células no Pequeñas/patología , Citodiagnóstico/métodos , Técnicas Citológicas/métodos , Femenino , Humanos , Masculino , Persona de Mediana Edad , Neoplasias de Células Escamosas/diagnóstico , Neoplasias de Células Escamosas/patología , Estudios Retrospectivos , Carcinoma Pulmonar de Células Pequeñas/diagnóstico , Carcinoma Pulmonar de Células Pequeñas/patología
12.
Acta Neuropathol ; 115(1): 151-6, 2008 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-17593378

RESUMEN

Acrocallosal syndrome (ACS) is an autosomal recessive disorder characterized by craniofacial dysmorphism, agenesis or hypoplasia of the corpus callosum, duplication of the phalanges of the hallux, more rarely the thumbs, post-axial polydactyly, syndactyly and severe mental retardation. Here we report the two first descriptions of acrocallosal syndrome in fetus with extensive neuropathological study and provide new data regarding additional brain abnormalities in ACS. The first case was a 25-gestational week male fetus displaying craniofacial and limb abnormalities, with bilateral syndactyly of the fourth and fifth fingers, preaxial polydactyly of the left foot and an inter-frontal extra-bone. The second fetus was a 33-gestational week male fetus. His left hand displayed a broad thumb and 4/5 syndactyly. In both cases, gross examination of the brain showed an absence of corpus callosum associated with interhemispheric cysts. The cerebral cortex in front of the cysts was nodular. Upon microscopic examination, the nodular masses corresponded to large dysplastic areas represented by clusters of undifferentiated neurons in the white matter. The cyst wall showed arachnoidal and ependymal covering and contained numerous choroid plexus, suggesting a developmental abnormality of the ventricles. The pons and the cerebellum were hypoplastic. The dentate nuclei were fragmented. Numerous neuronal heterotopias associated with ectopic ependymal cavities were observed in the vermis in one case. The olivary nuclei were severely dysplastic too. We hope that these new data will make both the ante- and post-natal diagnosis easier, facilitate comparisons with animal models and encourage the identification of the genes responsible for this syndrome.


Asunto(s)
Anomalías Múltiples/patología , Encéfalo/anomalías , Encéfalo/patología , Anomalías Congénitas , Anomalías Craneofaciales/patología , Femenino , Feto , Dedos/anomalías , Humanos , Masculino , Polidactilia , Sindactilia
13.
J Biol Chem ; 282(19): 14505-14, 2007 May 11.
Artículo en Inglés | MEDLINE | ID: mdl-17369263

RESUMEN

Malaria is a major cause of morbidity and mortality with an annual death toll exceeding one million. Severe malaria is a complex multisystem disorder, including one or more of the following complications: cerebral malaria, anemia, acidosis, jaundice, respiratory distress, renal insufficiency, coagulation anomalies, and hyperparasitemia. Using a combined in vivo/in vitro metabolic-based approach, we investigated the putative pathogenic effects of Plasmodium berghei ANKA on brain, in a mouse strain developing malaria but resistant to cerebral malaria. The purpose was to determine whether the infection could cause a brain dysfunction distinct from the classic cerebral syndrome. Mice resistant to cerebral malaria were infected with P. berghei ANKA and explored during both the symptomless and the severe stage of the disease by using in vivo brain magnetic resonance imaging and spectroscopy. The infected mice did not present the lesional and metabolic hallmarks of cerebral malaria. However, brain dysfunction caused by anemia, parasite burden, and hepatic damage was evidenced. We report an increase in cerebral blood flow, a process allowing temporary maintenance of oxygen supply to brain despite anemia. Besides, we document metabolic anomalies affecting choline-derived compounds, myo-inositol, glutamine, glycine, and alanine. The choline decrease appears related to parasite proliferation. Glutamine, myo-inositol, glycine, and alanine variations together indicate a hepatic encephalopathy, a finding in agreement with the liver damage detected in mice, which is also a feature of the human disease. These results reveal the vulnerability of brain to malaria infection at the severe stage of the disease even in the absence of cerebral malaria.


Asunto(s)
Encefalopatías/etiología , Encéfalo/metabolismo , Espectroscopía de Resonancia Magnética , Malaria Cerebral/diagnóstico , Plasmodium berghei/patogenicidad , Alanina , Anemia/etiología , Anemia/patología , Animales , Encéfalo/patología , Encefalopatías/patología , Edema Encefálico/etiología , Edema Encefálico/patología , Isquemia Encefálica/etiología , Isquemia Encefálica/patología , Proliferación Celular , Circulación Cerebrovascular , Femenino , Hígado/metabolismo , Malaria Cerebral/complicaciones , Ratones , Ratones Endogámicos BALB C
14.
J Neurooncol ; 60(2): 127-34, 2002 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-12635659

RESUMEN

CD44, a family of cell surface glycoproteins involved in cell-cell and cell-extracellular matrix adhesion, is widely expressed in the white matter of the normal brain and in astrocytic gliomas under its standard form (CD44s also called CD44H). On the other hand, several variants have been found in brain metastases and rarely found in gliomas. We have investigated by immunohistochemistry CD44H and CD44v6 expression in 28 oligodendrogliomas. All tumors were CD44v6 negative whereas nearly all tumors were immunolabelled with anti-CD44H antibody. Immunostaining increased in parallel with grade and was particulary strong around vessels and in tumoral subpial nodules. Western blot analysis showed that oligodendrogliomas expressed the same 80-kDa CD44 isoform as normal brain. Since gliomas may arise from a dividing progenitor cell, we also studied CD44H expression during the oligodendrocyte lineage in vitro in parallel with specific markers of the O-2A cells. Precursor cells (PSA-NCAM positive), O-2A progenitor cells, as well as preoligodendrocytes (A2B5 positive cells) and immature oligodendrocytes (O4 positive cells), coexpressed CD44H. Our data showed that CD44H is expressed by cells of the oligodendrocyte lineage in vitro and by oligodendrogliomas in vivo especially in sites of dissemination such as subpial spaces. This suggests that CD44H could play a role in migration of tumor cells in oligodendrocytic tumors.


Asunto(s)
Neoplasias Encefálicas/metabolismo , Receptores de Hialuranos/biosíntesis , Oligodendroglía/metabolismo , Oligodendroglioma/metabolismo , Animales , Animales Recién Nacidos , Encéfalo/citología , Neoplasias Encefálicas/química , Neoplasias Encefálicas/patología , Linaje de la Célula , Movimiento Celular , Células Cultivadas , Humanos , Receptores de Hialuranos/análisis , Inmunohistoquímica , Oligodendroglía/química , Oligodendroglía/citología , Oligodendroglioma/química , Oligodendroglioma/patología , Ratas , Células Madre/química , Células Madre/citología , Células Madre/metabolismo
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