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1.
Murat Hamit Aytar Fikret Doğulu Berker Cemil Ertan Ergün Gökhan Kurt Kemali Baykaner 《Child's nervous system》2007,23(6):719-721
Introduction Iniencephaly, a neural tube defect involving occiput and inion and combined with rachischisis of the cervical, thoracic spine,
and retroflexion position of the head is a very rare congenital abnormality of the fetus–newborn with a 0.1–10 of 10,000 prevalence.
This abnormality’s prognosis is thought to be dismal. This abnormality can be associated with other abnormalities such as
anencephaly, encephalocele, hydrocephalus, cyclopia, absence of the mandible, cleft lip and palate, cardiovascular disorders,
diaphragmatic hernia, renal abnormalities, overgrowth of the arms compared to the legs, and club food and gastrointestinal
atresia.
Discussion Most of the patients are dead born, and the others die in a few hours. There are only six previously documented long-term
survivors. In our case, our patient with iniencephalic signs and findings is still living. She is 2 years old now. We think
that this patient presents a mild form of iniencephaly. 相似文献
2.
M A Ye?ilipek G Lüleci N Oygür S Berker O Yegin 《The Turkish journal of pediatrics》1992,34(4):251-254
Cytogenetic abnormalities are rarely found in patients with juvenile chronic myelogenous leukemia (JCML). In patients with chromosomal abnormalities, chromosomes 7 and 8 are usually involved. A case of JCML with 47 XXX and a 46 XX karyotype is described and the literature is reviewed. To our knowledge, this is the first case ever to have been reported. 相似文献
3.
A mature cystic teratoma in pineal region mimicking parietal encephalocele in a newborn 总被引:1,自引:0,他引:1
M. Kemali Baykaner Ertan Ergun Berker Cemil Pelin Bayik Hakan Emmez 《Child's nervous system》2007,23(5):573-576
Objective Teratoma is the most frequently encountered intracranial tumor at birth and constitutes 18–20% of all germ cell tumors. They
are usually located in pineal and suprasellar regions. The authors aim to report an extremely unusual presentation, location,
and appearance of a teratoma in a newborn.
Case report A soft tissue swelling in the vertex was detected in a 1-month-old girl. Neurological examination was normal. A big, cystic–solid
lesion beginning from pineal region and extending to the scalp was detected in magnetic resonance imaging. It is interesting
to note that cerebral venous angiography showed that the superior sagittal sinus (SSS) was divided into three branches at
the level of the lesion and they joined together distally. The tumor was excised totally. Histopathological examination revealed
the diagnosis of a mature cystic teratoma.
Conclusion A mature cystic teratoma mimicking parietal encephalocele is extremely rare. Germ cell tumors should be kept in mind in the
differential diagnosis of all midline lesions with unusual radiographic appearance. Cerebral venous angiography or MR angiography
must be performed for the diagnosis and the surgical planning in lesions located near SSS. 相似文献
4.
5.
The use of neuronal nuclear antigen (NeuN) as a reliable neuronal marker in the differential diagnosis of clear cell neoplasms of the central nervous system was determined in a biopsy series of 23 cases. Immunohistochemical analyses were carried out by antisera against neuronal nuclear antigen, synaptophysin, neuron-specific enolase, microtubule-associated protein 2, and glial fibrillary acidic protein. All eight central neurocytomas were characteristically immunolabeled by NeuN. NeuN immunoreactivity was uniformly strong and basically located in the nuclei of neurocytes. Despite this uniform staining pattern of central neurocytomas, 12 cases of oligodendrogliomas and three cases of ependymoma were negative for NeuN. As the diagnostic criteria for central neurocytoma include immunohistochemical and/or ultrastructural evidence for neuronal differentiation, NeuN as a sensitive and specific neuronal marker in formalin-fixed, paraffin-embedded tissues may greatly facilitate the differential diagnosis of central neurocytomas. 相似文献
6.
High contrast can be obtained in ultrathin sections of bacterial cells embedded in the low-temperature resin Lowieryl by post-staining of the sections on an aqueous ruthenium red solution. Post-staining with lead citrate can be omitted. Combination with post-staining with uranyl acetate results in further improvement of contrast. This is shown for Gram-positive, Gram-negative, and methanogenic bacteria. Improved visibility is demonstrated for wall layers including slime and capsule, cytoplasmic membrane, nucleoid, envelope of PHB inclusion bodies, polyphosphate, and intracellular defective bacteriophages. The procedure is suited as post-staining for immunocytochemical analyses. 相似文献
7.
Goldenhar's Syndrome (oculo-auriculo-vertebral dysplasia) is a wide spectrum of congenital anomalies that involves structures arising from the first and second branchial arches. In this report, a case of a male infant, with the features of hemi facial microsomia, anotia, vertebral anomalies, congenital facial nerve palsy and lagophthalmos is described. Although the syndrome itself is not uncommon, the presence of congenital facial nerve palsy, which has been reported in rare cases, prompted this case report. 相似文献
8.
9.
Sibel Berker Karauzum Duygu Yasar Ercument Dirice Nilufer Imir Guven Luleci 《Growth factors (Chur, Switzerland)》2013,31(2):94-100
Hairy cell leukemia (HCL) is a chronic B-cell lymphoproliferative disorder with pathological manifestations usually including splenomegaly and panctopenia. Interferons (IFNs), specifically of the α subtypes have shown a significant anti-tumor effect in HCL patients, with improvement of hematological parameters within the first few months of treatment. However, the therapeutic effect of IFN-α is still rather limited. The mechanisms responsible for the beneficial action of IFN-α in HCL patients are unclear. A continuous line of cells (Eskol) from a patient diagnosed with HCL was established and shown to have several properties of HCL. Even though, Eskol cells are very resistant to anti-proliferative activity of IFN-α, Daudi cells, another human B-cell-derived cell line, are very sensitive to anti-proliferative activity of IFN-α and are commonly used as a model cell to test anti-proliferative effect of IFN-α. To understand the molecular reason(s) behind the observed obvious differences to IFN sensitivity of above cells, we have analyzed the expression levels of BCL2, caspase-1, Laminin and PARP in these cells. We found that Daudi cells do not express BCL2 at all, and probably because of that, these cells have constantly cleaved, and probably activated form of caspase-1. However, when we overexpresed BCL2 in these cells, they lost processed form of caspase-1 and became resistant to anti-proliferative activity of IFN-α. These results let us to suggest that IFN-α sensitivity of B-cell lymphomas, once again, depends on the presence or absence of BCL2. 相似文献
10.