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Biomedical subjects

L M Neumann

Publications and source records attributed to L M Neumann.

13 recordsLinked to original sources
PubMed2006

[Ocular manifestations and surgical results in patients with Marfan syndrome].

AIM: This retrospective study should examine and judge the surgical indications and the therapeutic possibilities as well as their complications in patients with ocular manifestations of Marfan syndrome (MFS) diagnosed according to the criteria of the Ghent nosology. PATIENTS AND METHODS: The study included 17 patients. Operative indications were increasing subluxation of the lens, retinal detachments and secondary glaucoma. The operative procedure depended on patient age and findings. Eleven MFS patients were operated in both eyes and six MFS patients in one eye. RESULTS: Stabilization or functional improvement of visual acuity could be achieved in all patients in whom no disorders limiting visual acuity or amblyopia were present preoperatively. In six eyes of five patients, lens insertion was accomplished via a pars plana approach. Lens removal without implantation of an intraocular lens was performed in 16 eyes of 10 patients. Pars plana vitrectomy was accomplished in 12 eyes. Complications were well controlled by pars plana vitrectomy. CONCLUSIONS: Difficult preoperative situations and postoperative complications are not rare in MFS patients. However, they can be controlled well by means of modern vitreous surgery.

Adolescent↗
PubMed2006

Molecular cytogenetic identification and characterization of a de novo supernumerary neocentromeric derivative chromosome 13.

We report a young girl with microphthalmia, conductive deafness, aortic isthmus stenosis, laryngomalacia, and laryngeal stenosis carrying a de novo supernumerary neocentromeric derivative chromosome 13. For the precise identification and characterization of the eu- and heterochromatic content of the marker chromosome, straightforward molecular cytogenetic analyses were performed, such as chromosome microdissection, FISH with different probes (e.g. wcp, alphoid centromeric probes, BAC), centromere-specific multicolor FISH (cenM-FISH), and multicolor banding (MCB). The analyses demonstrated that the marker consisted of an inverted duplication (partial tetrasomy) of the distal portion of chromosome 13 that was separated from the endogenous chromosome 13 centromere. Using an all-centromere probe and multicolor cenM-FISH, no alpha-satellite DNA hybridization signal was detectable on any portion of the derivative chromosome. The presence of a functional and active neocentromere on the derivative chromosome 13 was confirmed by positive immunofluorescence signals with CENP-C antibodies. BAC-FISH confirmed the cytogenetic localization of the neocentromere in band 13q31.3. Thus the patient had a mosaic conventional karyotype mos 47,XX,+inv dup(13)(qter-->q21.3::q21.3-->q31.3-->neo-->q31.3-->qter)[6]/46,XX [49].

Abnormalities, Multiple↗
PubMed2005

Smith-Lemli-Opitz syndrome with a classical phenotype, oesophageal achalasia and borderline plasma sterol concentrations.

The diagnostic biochemical hallmarks of Smith-Lemli-Opitz syndrome (SLOS) are elevated concentrations of the cholesterol precursors 7- and 8-dehydrocholesterol (7- and 8-DHC). We describe a patient with classical SLOS phenotype and oesophageal achalasia, which has not been reported in SLOS patients before. Plasma 7-DHC and 8-DHC were only marginally elevated. The diagnosis was confirmed by sterol analysis in cultured skin fibroblasts and mutation analysis.

Cell Culture Techniques↗
PubMed2004

Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus.

Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterised by progressive spasticity and hyperreflexia of the lower limbs. Autosomal dominant hereditary spastic paraplegia linked to the SPG3A locus on chromosome 14q11-21 accounts for approximately 10% of autosomal dominant hereditary spastic paraplegia (ADHSP). It is caused by mutations in the SPG3A gene encoding the protein atlastin. To date, only five disease-causing mutations in the SPG3A gene have been described. We analysed 13 SPG4-negative families for mutations in the SPG3A gene and identified a mutation in 38% (5/13). Two of the mutations are novel, c.481G>C (p.A161P) and c.740A>C (p.H247P). One of the novel mutations was found both in a family with early onset of symptoms and in a late onset family. Furthermore, we report on numerous polymorphisms detected in the SPG3A gene.

Adolescent↗
PubMed2004

Unexpected death of a 12 year old boy with monosomy 1p36.

Monosomy 1p36 may result in a clinically recognizable chromosomal microdeletion syndrome. We report the unexpected death of a 12 year old boy with mildly dysmorphic facial features, short stature at 138 cm (3rd centile), moderate mental retardation and a history of seizures, obesity, transient muscle weakness of the right arm and leg and episodes of transient atonic hemiparesis of the right side of the body. Despite the relatively few congenital anomalies and normal karyotype, the 1p36 deletion was suspected on clinical grounds and was demonstrated by fluorescent in situ hybridisation (FISH). Two months after diagnosis and following a short history of a mild upper airway infection, high fever and severe diarrhea, the patient had a massive circulatory shock and asystolia, resulting in deep coma, brain edema, apallic syndrome and death. To our knowledge there has been no previous report of episodes of transient unilateral muscle weakness and atonic hemiparesis, circulatory shock and sudden death associated with monosomy 1p36.

Alopecia↗
PubMed2003

Spontaneous intracerebral hemorrhage and multiple infarction in Williams-Beuren syndrome.

A 7-year-old boy diagnosed with Williams-Beuren syndrome was admitted for spontaneous right hemispheric intracerebral hemorrhage. Cerebral angiography did not reveal any source of bleeding. After a short period of clinical improvement under conservative treatment, the boy deteriorated rapidly. CT showed the beginning of a complete infarction of both hemispheres. Operative evacuation of the bleeding and bilateral osteoclastic decompression had no perceptible influence on the clinical course. To the present day, the boy has remained in a vegetative state. Reports in the literature suggest that Williams syndrome with cerebral infarction is associated with a markedly poorer prognosis when there is additional intracerebral bleeding.

Cerebral Angiography↗
PubMed1989

Dental esthetic satisfaction in adults.

This study determined the influence of teeth, mouth, and face on self-image and personal esthetic satisfaction in adults. A random sample of 125 patients completed a five-item questionnaire about personal esthetic satisfaction and oral self-image. As a group, general dental variables were stronger predictors of esthetic satisfaction than orthodontic variables (P less than .01). Discrepancies between clinical findings and patterns of self-perception and satisfaction suggest the dentist and patient should plan together for esthetic dental treatment.

Adolescent↗