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Case Reports 2014; 35(Suppl 2): 211-213 PubMed PMID: 25638389 Citation  Keywords:  Choristoma:congenital, Glioma:congenital, Humans, Infant, Newborn, Male, Neuroglia:pathology, Nose Neoplasms:congenital,.   

: Neuroglial heterotopia is a rare developmental abnormality. Most frequently the diagnosis is established at birth or in early childhood by a typical clinical presentation. Neuroglial heterotopia can be intracranial or extracranial. A typical example of extracranial heterotopia is nasal glioma, which can be isolated or can communicate directly with the intracranium. The most sensitive investigation for the confirmation of its site is magnetic resonance imaging. Histological investigation is crucial in establishing the diagnosis. The authors present the case of postnatally assessed nasal glioma. They emphasize the importance of detailed prenatal investigation as most important in preventing birth trauma and consequent complications.

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Journal Article 2013; 34(7): 717-721 PubMed PMID: 24464013 Citation  Keywords:  Adult, Choristoma:metabolism, Chromatography, Liquid, Endometriosis:diagnosis, Endometrium:metabolism, Female, Humans, Ovary:metabolism, Proteomics:methods, Tandem Mass Spectrometry, Two-Dimensional Difference Gel Electrophoresis,.   

OBJECTIVE: The present study aimed at performing proteomic analysis of matched eutopic endometrium and ovarian endometrioid cysts from women with endometriosis in order to discover any abnormal protein expression related to the disease.

DESIGN AND SETTING: The study included 8 women with stage III/IV endometriosis according to revised American Fertility Society (rAFS) classification and one woman with no signs of the disease as a reference. Proteomic analysis was performed using a novel isobaric tag-based methodology for relative and absolute peptide quantification (iTRAQ) coupled with multidimensional liquid chromatography and tandem mass spectrometry.

RESULTS: The selection of 419 proteins was found in all endometriosis specimens. Using normal eutopic endometrium from woman without endometriosis as a reference, some proteins expressions were significantly increased in all endometriosis samples. They included collagen α1(XIV), calmodulin, collagen α(VI), plexin, integrin αVβ3, transgelin, desmin, and vimentin. The comparison of these proteins' expression in paired eutopic and ovarian endometriosis samples has revealed that only vimentin was significantly increased in ovarian endometrioma.

CONCLUSIONS: It was confirmed that endometriosis is associated with different expression of proteins in endometriotic samples. Nevertheless, further studies seem to be necessary as they may reveal possible markers that would be useful in clinical diagnosis of the disease....

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Case Reports 2012; 33(3): 265-267 PubMed PMID: 22635081 Citation  Keywords:  Adrenal Cortex, Adrenal Cortex Hormones:secretion, Adrenal Cortex Neoplasms:pathology, Adrenocortical Adenoma:pathology, Adult, Choristoma:pathology, Humans, Kidney Diseases:pathology, Kidney Neoplasms:pathology, Laparoscopy:methods, Male, Pituitary ACTH .   

: Tumors originating from ectopic adrenal tissue are relatively rare. In this article, we describe a case with Cushing's syndrome caused by an ectopic adrenal adenoma. A 38 year-old male patient presenting with cushingoid appearance for 2 years was diagnosed to have ACTH-independent Cushing's syndrome based on endocrinological evaluation. Mutiple radiological examinations detected bilateral adrenal atrophy. When the images were investigated in a more expanded scope, a 3.0×3.5×5.3 cm mass was detected in the anterior of left renal hilum and left renal vein. The mass was successfully resected with intraoperative endoscopy and pathological evaluation revealed an ectopic adrenal tumor. It is suggested that when the endocrinlogically confirmed adrenal neoplasm could not be well and definitely localized, the possibility of ectopic adrenal should be presumed and further radiography examinations should extend to the field where ectopic adrenal usually presents....

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Case Reports 2011; 32(4): 408-410 PubMed PMID: 21876487 Citation  Keywords:  Child, Choristoma:genetics, Chromosome Aberrations, Chromosomes, Human, Y, Cryptorchidism:genetics, Hernia, Inguinal:genetics, Humans, Hypospadias:genetics, Male, Mosaicism, Sex Chromosome Aberrations,.   

OBJECTIVES: Growth disturbances and developmental malformations of external genitalia, such as hypospadias, bifid scrotum and micropenis, coexisting with non-palpable testes, may develop as a result of primary endocrinological dysfunctions as well as an effect secondary to chromosomal aberrations. Therefore, patients with these symptoms require specific diagnostic and therapeutic approaches.

DESIGN AND METHODS: We present an example of TTE as a presentation of karyotype abnormalities. Clinical presentation - 9.5 year old boy presented with hypospadias, bilateral cryptorchidism and right inguinal hernia and short stature.

RESULTS: Endocrine test showed low testosterone levels with adequate gonadal response. Laparoscopy was performed and revealed the presence of TTE.

CONCLUSIONS: The presence of mosaic karyotype with abnormal Y chromosome does not exclude a possibility of testis migration disorders, including TTE, caused by other (possibly genetic) factors. Laparoscopy is a technique of choice for diagnosis and treatment in cases of cryptorchidism....

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Case Reports 2007; 28(5): 560-564 PubMed PMID: 17984954 Citation  Keywords:  Adenoma:pathology, Adult, Antineoplastic Agents, Hormonal:therapeutic use, Choristoma:pathology, Growth Hormone-Secreting Pituitary Adenoma:pathology, Humans, Magnetic Resonance Imaging, Magnetic Resonance Spectroscopy, Male, Peptides, Cyclic:therapeutic .   

: MR spectroscopy (MRS) of hormonally active pituitary adenomas has not been published in literature. We report MR imaging and spectroscopy findings in a 41-year-old man with extrapituitary growth hormone-secreting adenoma. Application of the single voxel proton MRS, SE 135 technique, with voxel size 11x11x11 mm, revealed the elevated choline peak (resonance at 3.2 ppm) in the paramedial aspect of the tumor, while no metabolic activity in the mentioned region was noted using the same method 11 months after Lanreotide treatment. Elevation of choline peak in functional pituitary adenomas could represent an active marker of cellular proliferation, compatible with increased hormonal activity....

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Journal Article 2005; 26(3): 219-224 PubMed PMID: 15990725 Citation  Keywords:  Adolescent, Adult, Cerebral Cortex, Cerebral Ventricles, Choristoma, Electroencephalography, Epilepsy:epidemiology, Evoked Potentials, Somatosensory, Female, Humans, Hydrocephalus:epidemiology, Incidence, Magnetic Resonance Imaging, Median Nerve:physiolog.   

OBJECTIVES: Developmental cerebral dysplasias are frequent causes of epilepsy. The early stage of gestation, mainly the period of neural crest separation and neuroblast migration (disturbance of midline structures, heterotopias, cortical dysplasias and disturbance of the ventricular and vascular formation), may be considered as a cause of serious cerebral dysplasia. The aim of the study was focused on frequent simultaneous occurrences of epileptic seizures and the defect or abnormality of the ventricular system - cavum septi pellucidi (CSP).

MATERIAL AND METHOD: In our study the clinical symptoms, EEG and somatosensory evoked potentials (SEP's) following median nerve stimulation and MRI pictures in the group of patients with CSP (n= 35), were analyzed. In the SEP analysis, a control group of normal, healthy volunteers (n = 40) and a group of age matched patients with epileptic seizures of different origin, without structural lesions evident on MRI (n=21), were used.

RESULTS: Analysis of the patient population with CSP (CSP was confirmed by MRI) showed that approximately in 2/3 cases, different types of cranio-cerebral dysplasias were evident on MRI. More than 2/3 of the patients with CSP showed epilepsy and an abnormal EEG record, however, focal EEG changes were seen more frequently in the group of patients with epilepsy without CSP, than in patients with CSP. The SEP's in patients with CSP showed a statistically significant prolongation of latency of thalamic P15 waves, however these changes were not present in the group of patients with epilepsy of a different origin.

CONCLUSIONS: In a group of patients with CSP, dysplastic MRI changes, together with the prolongation of thalamic wave latencies according SEP, were examined. These clinical symptoms may be considered the result of disturbances of early gestation and of lesions of midline structures. CSP became an interesting model opportunity for us, and allowed for the clinical, MRI and electrophysiological examination of developmental cerebral dysplasias. We believe that there is an important role for septal and diencephalic midline structures in cerebral electrogenesis, and possibly in the origin of epileptic seizures too....

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Case Reports 2001; 22(4): 263-269 PubMed PMID: 11524634 Citation  Keywords:  Adolescent, Adult, Child, Choristoma:diagnostic imaging, Female, Hormones:therapeutic use, Humans, Hyoid Bone, Mandibular Diseases:drug therapy, Middle Aged, Thyroid Gland, Tomography, X-Ray Computed, Tongue Diseases:diagnostic imaging,.   

OBJECTIVES: The authors describe the classification of heterotopic thyroid tissue. A survey of more than 600 literature cases is provided. Different therapy approaches for these anomalies are discussed. Data from seven subsequent cases have been added to the existing literature data. The authors present an alternative approach to the therapy of heterotopic thyroid tissue.

MATERIALS AND METHODS: The records of seven patients treated for a heterotopy of the thyroid tissue as the Department of ENT and Head and Neck Surgery of First Medical school of the Charles University of Prague since 1.1.1991 to 1.1.2001 have been analyzed.

RESULTS: The first group: No surgery. This approach was used for children. In these patients the heterotopic thyroid tissue is the only thyroid tissue they have, but its function is not damaged and there are no mechanical symptoms (no airway obstruction and dysphagia). TSH substitution-suppression therapy is necessary for this group. Cooperation and follow up by the endocrinology, otolaryngology and pediatric departments is necessary. At a later age these patients can be treated as in the second group. The second group: Surgery. All patients in this group had heterotopic thyroid tissue. The total removal of thyroid tissue has been preferred. Carcinomatous change or the development of mechanical syndrome, dysphagia or airway obstruction is possible. Total removal is the best surgical approach. Various surgical methods are described in the literature (CO2 laser, intraoral, mandibulotomy, middle hyotomy etc.). These patients are treated as after total thyroidectomy and substitution therapy with synthetic thyroid hormones is necessary. The authors describe and add seven cases to the literature data. The authors describe radical removal of aberrant and accessory tissue [corrected]....

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