Tetra-amelia and lung aplasia syndrome: report of a new family and exclusion of candidate genes.
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Abnormalities, Multiple↗
Biomedical subjects
A Liprandi
Publications and source records attributed to A Liprandi.
[Linear insertion of the atrioventricular valves without defect].
On a first anatomical series of 52 hearts of trisomic 21 fetuses, published in June 2002, we described a new minor cardiac anomaly, belonging to the atrioventricular septal defect, with a linear insertion of the atrioventricular valves without defect. We want to confirm these data, on a larger series of 213 new hearts of trisomic 21 fetuses by adding a complementary section to the standard examination; 100% of controls have shown a normal insertion with an offsetting of the atrioventricular valves. On 113 out of these 213 hearts of trisomic 21 fetuses, with a so called "normal" heart at the standard examination showing no defect, the complementary section has shown that only 37.2% of these hearts have a normal insertion, whereas 62.83% show a linear insertion, without offsetting and without any septal defect. This linear insertion has been observed in all the different types of atrioventricular septal defect as a good hallmark for trisomy 21; but, since then, they have always been described associated with a septal defect, atrial or ventricular. Our hypothesis is that the linear insertion of the atrioventricular valves without defect is the minor form of the atrioventricular septal defect spectrum, taking place between the prior described partial types of atrioventricular septal defect, in which there is always a defect (ostium primum type atrial septal defect or inflow type ventricular septal defect), and the real normal heart. A precise description of the level of the complementary section and of the anatomic peculiarities of the linear insertion of the atrioventricular valves without defect would help its screening in fetal ultrasonography.
Autopsy↗
Value of fetal autopsy after medical termination of pregnancy.
We carried out a retrospective study of 352 medical terminations of pregnancy (MTP) carried out in a large French administrative region over two consecutive years. We analysed the indications for MTP and then compared the prenatal ultrasound diagnosis with fetal autopsy findings in order to demonstrate the value of pathological examination of the fetus in prenatal diagnosis and genetic counselling as well as the need to check by autopsy the quality of ultrasound screening. Preliminary analysis of the indication for these MTP showed that in 69.9% ultrasound screening had been carried out, revealing mainly brain abnormalities (22.2%) and heart defects generally associated with chromosomal abnormalities (32.1%). Prenatal findings were in agreement with autopsy results, showing no false-positive prenatal diagnoses. However, in 7.9% of cases in which brain abnormalities were detected, confirmation was not possible at autopsy because of tissue autolysis, showing the need for optimal conditions of expulsion. In 35.8% of cases, confirmation of the diagnosis by autopsy was not useful for management but still added to medical knowledge and demonstrated to the mother the reality of the defects. In 50.9%, the autopsy findings were decisive for genetic counselling.
Aborted Fetus↗
Congenital atrioventricular block: histological aspects.
It is known that maternal immunological factors such as systemic disease are involved in the genesis of cardiac conduction problems in the fetus but the histologic changes in the conduction system are less documented. We report the case of a 33-year-old woman with no significant medical history. Her first pregnancy was induced by Clomifene. At 17 weeks of gestation, the fetus presented sonographic abnormalities characteristic of a complete atrioventricular block. Biological investigations found anti-SSA and -SSB antibodies. Clinical history search for systemic disease was positive for photosensitivity, lasting 10 years, suggesting the diagnosis of systemic lupus erythematosus. The patient was treated with prednisone 20 mg per day but fetal death occurred at 29 weeks of gestation. Histological examination of the fetal heart showed an altered atrioventricular node and bundle of His with fibrosis, calcifications, endocardial fibroelastosis and mononucleated inflammatory cells. The search for these specific lesions can be determinant in establishing the disease pathogenesis; also, it is important to eliminate this diagnosis in an unexplained fetal death.
Female↗
Congenital disseminated malignant rhabdoid tumor and cerebellar tumor mimicking medulloblastoma in monozygotic twins: pathologic and molecular diagnosis.
Malignant rhabdoid tumors are highly aggressive childhood tumors. Recently, all of the malignant rhabdoid tumors, whatever their location, have been related to the inactivation of the hSNF5/INI1 gene. A subset of cerebral tumors, associated with malignant rhabdoid tumors or isolated ones arising in siblings, showed similar molecular alterations. We report for the first time in monozygotic twins a congenital disseminated malignant rhabdoid tumor in one twin and a cerebellar tumor mimicking a medulloblastoma in the other. Molecular analysis revealed similar alterations for both tumors: a deletion of exon 7 of the hSNF5/INI1 gene in one allele, and a point mutation in the same exon in the other, suggesting a common genetic pathway. Analysis of constitutional DNA revealed a germline mutation. These findings are in favor of a common etiology for rhabdoid tumor and a subset of brain tumors developing in infancy.
Biomarkers, Tumor↗
[Outcome of infants with hypoplastic left heart syndrome diagnosed in utero].
The authors report the results of prenatal diagnosis of the hypoplastic left heart syndrome since 1998 in the University Hospitals of Marseille and Montpellier. Twenty-four prenatal diagnoses of this condition were made in mothers with a mean age of 29 (18 to 40 years) and after a mean term of 22 (18.5 to 33) weeks of amenorrhea. Seventeen therapeutic abortions were carried out and 7 neonates born after a mean term of 39 (28 to 40) weeks, were admitted to the paediatric intensive care unit. Two patients required ventilatory assistance with one early death. The other patients were stable after surgery. A Norwood (first stage) procedure was carried out in 6 neonates at a mean age of 5 (1 to 6) days. There was only one survivor (17%). Prenatal diagnosis of the hypoplastic left heart syndrome allows cardiac and extracardiac evaluation of foetuses with this condition. Therapeutic abortions may be proposed and was the commonest choice of the parents in this study. On the other hand, despite better management of neonates with this prenatal diagnosis, the poor prognosis of the Norwood first stage procedure is unchanged. A systematic search for a restriction of the foramen ovale on foetal echocardiography could optimise neonatal management of this problem.
Abortion, Therapeutic↗
[Crohn's disease and small intestine adenocarcinoma].
INTRODUCTION: The relationship between digestive neoplasia and Crohn's disease remains debated but several cases of carcinoma have been reported in the past 10 years. EXEGESIS: We report two cases of intestinal adenocarcinoma found in young people. Patients were asymptomatic during 15 years after the diagnosis of inflammatory bowel disease and presented a sudden occlusive syndrome. Carcinoma was observed incidentally at gross examination, and histopathological study showed dysplasia adjacent to neoplasia. Despite adequate surgical resection, death occurred quickly. CONCLUSION: Crohn's carcinoma should be suspected in patients with long-standing disease, poor symptomatology, and stenosis. Intestinoscopy surveillance remains illusory because inflammatory stenosis is often present and infiltrative neoplasia is invisible. Thus, it is important to be vigilant in this clinical presentation.
Adenocarcinoma↗
[Value of cytokeratin 7 and 20 for the diagnosis of cerebral metastases of adenocarcinoma: study of 78 cases].
OBJECTIVE: histological features of metastasis are not always specific of the origin. The usefulness of cytokeratin 7 and 20 (CK7 and CK20) in cerebral metastases from an adenocarcinoma was studied in a series of 78 patients. RESULTS: metastases from lung adenocarcinoma showed a CK7+/CK20- pattern in 79% of cases, CK7+/CK20+ in 19% and CK7-/CK20- in 2%. When observed, positivity for cytokeratin 20 was generally focal or weak. Breast adenocarcinoma metastases were CK7+/CK20- in 71% of cases and CK7-/CK20- in 29%. Less differentiated tumours were usually negative for both cytokeratins. Metastases by colonic adenocarcinoma were CK7-/CK20+ in 100% of cases. Cytokeratins 7 and 20 are useful to distinguish lung from colonic metastatic carcinoma. In case of double positivity, a more intense CK7 expression is rather suggestive of a lung origin. CONCLUSION: these results might modify paraclinic investigations in search of the primitive tumor.
Adenocarcinoma↗
Immunohistochemical localization of cytokines, C5b-9 and ICAM-1 in peripheral nerve of Guillain-Barré syndrome.
The spectrum of the Guillain-Barré Syndrome (GBS) has recently been widened by the newly identified forms of acute motor axonal neuropathy (AMAN) and acute motor sensory axonal neuropathy (AMSAN). An important question has been raised regarding the possibility for the axon to be a target in immune-mediated damage. Although myelin breakdown is the characteristic feature of classic acute inflammatory demyelinating polyradiculoneuropathy (AIDP), axonal degeneration may occasionally be observed in this form, especially in cases with explosive onset and severe clinical course. Immunohistochemical findings of five frozen sural nerves biopsies of patients with GBS (AIDP variant) tested with a panel of monoclonal antibodies raised against different molecules implicated in immune-mediated processes have principally disclosed an immunoreactivity of tumor necrosis factor-alpha (TNF-alpha) on both Schwann cell membranes and in myelinated and unmyelinated axons. On the other hand, interleukin 1-beta (IL1-beta) labeled Schwann cells, endothelial cells and macrophages; interferon-gamma (IFN-gamma) was observed both in endothelial cells and lymphocytes. Membrane attack complex (C5b-9) deposits were observed on Schwann cell membranes and finally intercellular adhesion molecule-1 (ICAM-1) was localized both on endothelial cells and macrophages. Our findings strongly suggest that TNF-alpha is an important factor in the cascade of events leading to immune-mediated demyelination and axonal damage in GBS.
Adult↗
Idiopathic membranous glomerulonephritis associated with primary antiphospholipid syndrome.
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Aged↗
[Prognostic factors in meningiomas].
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Humans↗
[Contribution of immunohistochemistry and electron microscopy for the diagnosis of meningeal hemangiopericytomas. 15 case reports].
Meningeal hemangiopericytomas (HPC) are rare CNS tumors with a pour prognosis compared to meningiomas. In order to define diagnosis criteria, we performed an immunohistochemical and ultrastructural study in respectively 15 and 5 meningeal HPC. The following antibodies anti-KL1, EMA, vimentin, CD34, factor VIII, alpha-smooth actin, estrogen and progesteron receptors (RE, RP) were used in paraffin embedded sections whereas anti-NCAM and E-cadherin antibodies were used on frozen sections when available. We can differentiate meningeal HPC from meningioma because of a complete lack of immunostaining with epithelial markers as well as with NCAM antibody or RE and RP receptors. Besides a positivity with CD34 and alpha-smooth actin antibodies was always observed even focally in HPC. On the other hand, solitary fibrous tumor showed a strong and diffuse positivity with anti CD34 and anti-vimentin antibodies. Electron microscopy can be helpful in some instances showing membrane basal-like substance and absence of desmosomes.
Adult↗
Local expression of monocyte chemoattractant protein-1 (MCP-1) in idiopathic inflammatory myopathies.
The idiopathic inflammatory myopathies (IIM), including dermatomyositis (DM), polymyositis (PM), and inclusion body myositis (IBM), are a group of autoimmune diseases characterized by the recruitment of lymphocytes and monocytes to the site of affection. The mechanism for recruitment of these cells likely involves chemokines. The monocyte chemoattractant protein-1 (MCP-1), a chemoattractant to T lymphocytes and monocytes, may play an important role in the pathogenesis of IIM. Frozen muscular tissues were obtained from eight cases of DM, five PM, and four IBM. We investigated the MCP-1 expression by the reverse transcription-PCR technique, immunohistochemistry and in situ hybridization. MCP-1 mRNA was markedly expressed in all the IIM cases. Greater amounts of MCP-1 mRNA were observed in DM, and in situ hybridization showed MCP-1 mRNA accumulation in perivascular mononuclear cells. Immunohistochemistry showed MCP-1 expression in vessels (endothelial cells and walls of veins and arteries) in all IIM cases. Very few mononuclear cells in DM perivascular infiltrates expressed MCP-1, whereas in PM and IBM, it was strongly expressed by mononuclear cells partially invading non-necrotic muscle fibers. These findings suggest that MCP-1 can contribute to the inflammatory response by attracting monocytes and T lymphocytes to sites of cell-mediated immune injury. The morphological characteristics and distribution of positive cells indicate that macrophages, lymphocytes, and endothelial cells previously reported to produce MCP-1, contribute to its production in IIM lesions.
Adult↗
[Expression of adhesion molecules in idiopathic inflammatory myopathies. Immunohistochemical study of 17 cases].
We investigated the immunohistochemical expression of endothelial cell adhesion molecules in 17 cases of idiopathic inflammatory myopathies. The present study revealed: 1) a constitutive expression of ICAM-1, ICAM-2 and PECAM-1, but not VCAM-1, LFA-3 and E-selectin, on endothelial cells in normal muscles; 2) a modification of cell adhesion molecules expression in idiopathic inflammatory myopathies with an increased expression of the expressed molecules constitutively; an expression of LFA-3 and VCAM-1 on capillary endothelial cells in polymyositis/inclusion body myositis, these molecules being only observed on endothelial cells of some arterioles in dermatomyositis; 3) an expression of all these molecules on inflammatory cells in inflammatory myopathies. In dermatomyositis, the expression of ICAM-1 and VCAM-1, predominated on mononuclear cells located near vessels. In polymyositis/inclusion body myositis, a strong expression of ICAM-1, VCAM-1 and LFA-3 was present on inflammatory cells invading non necrotic muscle fibers; 4) absence of E-selectin on endothelial and inflammatory cells in all cases.
Cell Adhesion Molecules↗
[General principles of macroscopic examination of kidney tumors].
We describe the main methods of gross examination of renal tumours. The pathologic result should refer to the TNM staging, which was achieved by UICC and AJCC in March, '97.
Child↗
[Malignant Leydig cell tumor of the testis secreting progesterone].
Malignant Leydig cell tumours of the testis occur in only 0.1-0.3% of patients with testicular tumours. Less than 50 cases of malignant Leydig cells tumours have been previously reported. A report of a new case is presented. This tumour was unusual because of high progesterone level. We analyzed malignant pathologic signs of Leydig cell tumours as immunohistochemical proliferation index. Management of this tumour, for which chemotherapy is not yet available, is discussed.
Aged↗
Identification of picobirnavirus, viruses with bisegmented double stranded RNA, in rabbit faeces.
Picobirnaviruses are a novel group of viruses recently found in the faeces of several species of vertebrates. Examination by polyacrylamide gel electrophoresis of rabbit faecal samples collected in one animal facility revealed the viruses in 23 (11 per cent) of 211 samples. Further analysis by electron microscopy and caesium chloride isopycnic centrifugation confirmed the presence of picobirnaviruses in the samples. The oral inoculation of three newly weaned rabbits with purified viruses resulted in the excretion of a virus with an electropherotype similar to the inoculum, by two of the three inoculated animals. Maximal viral shedding was detected 13 days after inoculation. No sign of diarrhoea was observed either in the inoculated animals or in the virus excreting animals surveyed. No antibody activity could be detected in the paired serum samples taken from the inoculated animals.
Animals↗