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Biomedical subjects

G Munteanu

Publications and source records attributed to G Munteanu.

At least 19 recordsLinked to original sources

Amyloid beta secretase gene (BACE) is neither mutated in nor associated with early-onset Alzheimer's disease.

The beta-site of beta-amyloid precursor protein cleaving enzyme (BACE) cleaves the beta-amyloid (Abeta) precursor protein at the N-terminal end of Abeta, allowing for the production of Abeta by C-terminal gamma-secretase cleavage. We hypothesized that over-activity of BACE might lead to the overproduction of Abeta, hence causing Alzheimer's disease (AD). Molecular genetic analyses of BACE in 9 autosomal dominant AD families and a population-based sample of 101 presenile AD cases did not identify genetic linkage, pathogenic mutations or genetic association with BACE, suggesting that BACE is not genetically involved in the etiology of AD.

Age of Onset↗

[Myelinated nerve fibers associated with cilioretinal artery occlusion].

Although the myelinated nerve fibers are considered as benign, cases associated with retinal vascular abnormalities (telangiectasis, neovascularization, vascular occlusions) have recently been reported, suggesting a possible pathogenic correlation between these elements. Our observation presents a 44-year-old patient, with a sudden decrease of visual acuity in the right eye, discal and peridiscal myelinated nerve fibers, associated with cilioretinal artery occlusion. The general clinical and laboratory examination, except for a drug stabilized arterial hypertension, did not reveal other local or general embolic factors. One year later, the decrease in visual acuity had remained unchanged and the area of the myelinated nerve fibers had diminished. Based on the association between the myelinated nerve fibers, the cilioretinal artery occlusion, the young age of the patient, and the absence of other local or general embolic factors, we consider there is a possible pathogenic correlation between these elements. The action of the myelinated nerve fibers can be explained by a mechanical compression, with the disruption of the cilioretinal artery route, a structurally vulnerable artery.

Adult↗

[Serpiginous choroiditis - clinical study].

The work shows a retrospective study a period of 12 years, on a number of 34 cases of serpiginous choroiditis. The average age of the patients was 36 years (29-68). The start of the illness was juxtapapillary in 99.1% and macular on 5.9% of the cases. The bilateralism was present in all the cases (delayed start), and the visual acuity was strongly affected in macular localizations. The ophthalmoscopical and angiofluorographic aspect is specific for all the evolutive phases, and the extension of the lesions is made by means of pseudopodia. problems of differential diagnosis, pathogenesis (hereditary, inflammatory, vascular) are discussed. We have obtained satisfying results by triple association of immunosuppressants: azathioprine, cyclosporins and prednisone.

Adult↗

The alpha2-macroglobulin gene in AD: a population-based study and meta-analysis.

BACKGROUND: Whereas several authors recently reported a positive association between the alpha2-macroglobulin gene (A2M) and late-onset AD (LOAD), others were unable to replicate these findings. Early-onset AD (EOAD) is defined as onset age <65 years. Virtually all patients with LOAD are >65 years of age. OBJECTIVE: To evaluate the role of A2M in AD, the authors conducted a population-based study of EOAD and LOAD as well as a meta-analysis of all studies conducted to date. METHODS: Patients with EOAD (n = 100) were derived from a population-based study in four northern provinces of the Netherlands and the area of metropolitan Rotterdam. Patients with LOAD (n = 344) were drawn from the Rotterdam Study, a population-based prospective study on residents aged 55 years and over of a Rotterdam suburb in the Netherlands. Two polymorphisms were studied, A2M-I/D and A2M-Ile1000Val, in relation to the APOE epsilon4 allele (APOE*4). RESULTS: No genotypic or allelic association was found for either polymorphism in the population-based series of patients with LOAD. In patients with EOAD without APOE*4, a significant increase of carriers of A2M-1000Val was found. The meta-analysis of available published case-control data on these polymorphisms in white and mixed ethnic populations yielded no significant differences between cases and controls. Pooling the Asian studies conducted to date showed a significant decrease in the frequency of A2M-D among patients. CONCLUSIONS: These results suggest that A2M is not genetically associated with LOAD in white patients or mixed populations as found in the United States. In these populations A2M does not have clinical relevance. From a scientific perspective, the findings on EOAD and Asian patients require replication and further research in the A2M region.

Aged↗

[Colobomatous pits of the optic nerve papilla associated with serous retinal detachment. The clinical and pathogenic aspects].

The present study is about a number of 19 cases (19 eyes), the patients having a congenital pit of the optic papilla (CPP) complicated with serous retinal detachment (SRD). The cases were selected, from a group of 41 patients with CPP. Average age of the cases was 37(31-54) years. The serous retinal detachment appeared under two different clinical appearances: the detachment of the internal retinal layers (DIRL) or retinal schisis, 10 cases, located between the papillae and macula, and involving the optic disc; the detachment of the external retinal layers (DERL), 9 cases, located within the macular area, without involvement of the optic disc. A number of 8 cases (42%) developed a macular hole, located within the external retinal layers. The cases with DIRL had better visual acuity, compared to those with DERL. This study proves the bilamellate character, of the serous retinal detachment. The disease starts with DIRL (retinal schisis), due to fluid passing at the level of the CPP and then DERL develops as a complication, following the degenerescence of the retinal layers within this area.

Adult↗

[Anterior ischemic optic neuropathy secondary to retrobulbar hematoma].

Two clinical cases are displayed, age over 70, with multiple vascular risk factors; following the retrobulbar injection performed for cataract surgery, retrobulbar hematoma and ischemic anterior neuropathy developed as complications. Pathogenesis of the optic ischemic anterior neuropathy may be explained by changes of a precarious hemodynamic balance and witch was previously settled, due to mechanic compression and increase of the intraocular pressure, which lead to the decrease of the blood pressure and implicitly to the development of optic neuropathy.

Aged↗

[Difficulties of diagnosis in a case of optic nerve drusen].

This paper presents a particullary case of optic nervue drusen. Ophthalmoscopic features (superficial drusen in one eye and deep drusen in another), clinical association with anisometropia and ambliopia, wrong interpretation of PEV and tomodensitometry mod to diagnostic confusion, supplementary investigations, prolonged and expensive treatment.

Child↗

[Cytomegalovirus retinitis and optic neuropathy in a case of an infectious HIV syndrome].

It is presented a case report of HIV syndrome complicated with cytomegalovirus retinitis and anterior ischemic optic neuropathy. It is reported a 36-years-old with type-B hemophilia and HIV-positive since few years. Despite treatment not recovered of ocular findings is obtained. Some literature data about ocular complications in HIV syndrome, particular features of CMV retinitis and anterior ischemic optic neuropathy etiopathogenesis are discussed.

AIDS-Related Opportunistic Infections↗

[Anterior ischemic optic neuropathy after systemic hypotension and anemia].

There are shown two cases of anterior ischemic optic neuropathy produced by arterial hypotension and anemia, due to a gastric bleeding and a hemodialysis treatment. Arterial hypotension can obliterate the optic nerve arteries, because of a weak haemodynamic balance previously affected, modifying the perfusion pressure at this level. The acute or chronic haemorrhages can produce anterior ischemic optic neuropathy in patients with vascular risk factors, by means of arterial hypotension and secondary anemia. Hemodialysis can produce anterior ischemic optic neuropathy through secondary arterial hypotension. It is necessary an emergency therapy to reuse arterial blood pressure and rearrange the hemodynamic balance.

Adult↗

[Cystic iris tumors].

The paper approaches a rare ophthalmological pathology, cystic iris tumors. The authors show two clinical cases treated in the Clinic of Ophthalmology, Timişoara. In both cases the clinical and paraclinical diagnosis was confirmed by postoperator anatomopathological examination.

Aged↗

[Persistent hyperplastic primary posterior vitreous].

The clinical study done on 19 cases with posterior primitive vitreous persistency and hyperplasia showed the predilection affectation of youth (average age: 11.2 year old), the frequent lateral localization (17 cases), microcornea (7 eyes), hypermetropia (average value + 3D). The visual acuity was between 1 and unregistered device values, being a function of the papillar ant retinal lesion extension. The ophthalmoscopical aspect was balanced, from a simple prepapillar veil to complex ophthalmological syndromes. Etiopathogenetically, the affection is considered to be a embryogenesis flaw, appeared in the development of the primary hyaloid-vitreous complex, described by an incomplete resorption and a hyperplasia of its elements. The problems of differential diagnosis and treatment are extensively presented.

Adolescent↗

[Doyne's macular heredodystrophy and benign monoclonal gammopathy. Genetic and pathogenetic correlations (author's transl)].

Doyne's macular heredodystrophy associated with benign monoclonal gammopathy was seen in 4 patients having genetic correlations in 3 generations. One case showed crystalline stromal corneal deposits. Based on this pathological association and the morphofunctional support of the pair, choriocapillaris Bruch's membrane, Doyne's macular heredodystrophy is considered as a symptom of the immunoglobulin deficiency syndrome (IgM). The pathogenicity of Doyne's macular dystrophy and of the secondary drusen is interpreted as a dynamic phenomenon related to all the morphofunctional changes occurring at the level of the choriocapillaris Bruch's membrane, and the pigmented epithelium.

Cornea↗

[Morphological diagnostic problems in a case of peritoneal blastomycosis].

Blastomycosis is a mycotic disease, caused by a fungal infection. It has a wide spectrum of clinical presentations, and, particularly, can mimic neoplastic disease. Correct diagnosis of the illness requires fungal culture and biopsy. In Romania, mycotic histopathology is insufficiently developed, and morphological tests are recommended to very few people who present this type of pathology. The paper discusses a case of peritoneal blastomycosis found at a patient with an abdominal pseudotumoral mass. The microscopic exam revealed the characteristic histologic features and budding yeast, in specific dyes, typical to the Blastomyces dermatidis (PAS, silver-methenamin). Authors of this paper hereby intend to draw pathologists' attention on the existence and diagnosis of mycotic lesions, whose number is continuously increasing nowadays.

Blastomyces↗