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Biomedical subjects

A Bankier

Publications and source records attributed to A Bankier.

At least 37 records · Page 2Linked to original sources
PubMed2000

Polymicrogyria associated with scalp and limb defects: variant of Adams-Oliver syndrome.

We describe cortical malformations in two siblings who also had features of Adams-Oliver syndrome (AOS, MIM 100300). The parents were first cousins and showed no signs of either disorder, suggesting autosomal recessive inheritance. Psychomotor delay was present in both sibs, and cerebral imaging was indicative of polymicrogyria (PMG). One sib had aplasia cutis congenita of the scalp and transverse limb defects, and the other had short fingers and toes and also developed lymphedema of the right leg. CNS abnormalities and lymphatic abnormalities are rare manifestations of AOS, and we suggest that these sibs have a rare variant of AOS with probable recessive inheritance.

Abnormalities, Multiple↗
PubMed2000

New case of Cole-Carpenter syndrome.

We describe a girl with a severe progressive type of osteogenesis imperfecta, in association with multisutural craniosynostosis, growth failure, and craniofacial findings including ocular proptosis, marked frontal bossing, midface hypoplasia, and micrognathia. Collagen analysis was normal. These features are consistent with the diagnosis of Cole-Carpenter syndrome. This report provides further evidence for the existence of this rare genetic entity.

Craniofacial Abnormalities↗
PubMed2000

SEL1L, the human homolog of C. elegans sel-1: refined physical mapping, gene structure and identification of polymorphic markers.

We have cloned the human full-length cDNA SEL1L, which is highly similar to the C. elegans sel-1 gene, an important negative regulator of the "notch" pathway which acts as a key regulator of the cellular proliferation and specification processes in both vertebrates and invertebrates. The SEL1L gene maps to 14q24.3-31 and here we report its fine localization by HAPPY mapping, which determines its molecular distance to microsatellite markers isolated in the region. We have found two new polymorphic (CA)n microsatellites located in the gene, and have identified the exon-intron boundaries. The gene is composed of 21 exons spanning 70 kb of genomic DNA. Human SEL1L protein exhibits a high degree of similarity compared to the mouse and nematode homologs.

Amino Acid Sequence↗
PubMed2000

A new disorder of hyaluronan metabolism associated with generalized folding and thickening of the skin.

OBJECTIVE: To describe and characterize a new disorder of hyaluronan metabolism associated with marked abnormalities of cutaneous tissue and to determine whether a relationship with a phenotypically similar disorder in the shar-pei dog exists. METHODS: Biopsy specimens of the skin of a child with extreme cutaneous thickening and folding were examined by light and electron microscopy. The concentration of hyaluronan and the activity of hyaluronidase were measured in the patient's serum and plasma, respectively, and the activity of hyaluronan synthase was examined in cultured dermal fibroblasts. Hyaluronan concentration was also measured in the plasma of 23 shar-pei and 34 control dogs. RESULTS: The patient's skin displayed gross accumulation of hyaluronan, and the serum concentration of hyaluronan was markedly elevated (up to 3100 microg/L) during infancy. Hyaluronan synthase activity of cultured dermal fibroblasts was increased, whereas hyaluronidase activity in plasma was normal (5.5 +/- 0.08 IU/L). Plasma hyaluronan concentration was higher in the shar-pei dogs than in control dogs (median, 378 microg/L vs 73 microg/L, respectively). CONCLUSION: The child we describe has a novel disorder of hyaluronan metabolism, which appears to result from abnormal control of hyaluronan synthesis. An analogous disorder may be present in the shar-pei dog.

Animals↗
PubMed2000

Hypogonadotrophic hypogonadism in Roifman syndrome.

The combination of spondyloepiphyseal dysplasia, humoral immune deficiency, growth retardation, intellectual deficit and characteristic facial dysmorphism has recently been delineated as a discrete disorder thus far only reported in males. This report describes a fifth individual with co-existent hypogonadotrophic hypogonadism, thereby expanding the phenotype and possibly offering insight into the genetic aetiology of this condition.

Adult↗
PubMed2000

Helical and conventional CT in the imaging of metallic foreign bodies in the orbit.

PURPOSE: To compare helical CT to conventional CT imaging in the assessment of orbital metallic foreign bodies with regard to image quality, scanning time, and radiation exposure. METHODS: Twenty-four standardized metallic foreign bodies, placed into the orbit (anterior, epibulbar, posterior) of cadaver heads were studied. Helical CT scanning in the axial plane with multiplanar reconstruction of coronal and sagittal images was performed as well as conventional CT imaging with direct scanning in the axial and the coronal planes (Tomoscan SR 7000, Philips, The Netherlands). Two masked observers consensually graded the studies using 5 predetermined criteria. Radiation dose delivered to the lens and scanning time were measured for the helical and the conventional CT imaging workup. RESULTS: Helical CT imaging scored statistically significantly better with regard to overall accuracy of foreign body localization and presence of beam-hardening streak artifacts from dental fillings. Conventional CT scored significantly better with regard to stair-step artifacts. The radiation dose delivered to the lens was 35.4 mGy for helical CT imaging and 73.9 mGy for conventional CT workup (axial and coronal scanning). Total scanning time was 18 seconds for helical CT axial scanning and 104 seconds for conventional CT axial and coronal scanning. CONCLUSION: Helical CT is superior to conventional CT imaging, because it can provide adequate information about orbital metallic foreign bodies with a single acquisition, thus reducing both the number of examinations and the radiation exposure for the patient.

Cadaver↗
PubMed1999

Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Cantú syndrome.

Cantú syndrome (hypertrichosis, osteochondrodysplasia, cardiomegaly) is a rare condition, previously reported in 13 patients. We report on two additional patients with this disorder. One of the patients had pulmonary hypertension of unknown cause which was responsive to steroid therapy. She also had unusual, deep plantar creases, not reported previously in Cantú syndrome. Autosomal recessive inheritance has been suggested previously on the basis of sib recurrence in one family and consanguinity in another. We have performed a segregation analysis based on all reported families to date; the data indicate autosomal recessive inheritance is unlikely. A new dominant mutation or microdeletion syndrome are more likely possibilities, sib recurrence possibly representing gonadal mosaicism.

Cardiomegaly↗
PubMed1999

Orbital helical computed tomography in the diagnosis and management of eye trauma.

OBJECTIVE: To prospectively determine the accuracy of helical computed tomography (CT) and multiplanar reconstruction and its value in surgical planning for the management of ocular trauma with suspected intraocular and orbital foreign bodies using surgical and clinical follow-up findings as the gold standard. DESIGN: Prospective, observational case series. PARTICIPANTS: Thirty-six patients with ocular trauma and suspected foreign bodies were studied. INTERVENTION: All patients were examined using a standardized scanning protocol with helical CT direct scanning in the axial plane and multiplanar reconstruction of coronal and sagittal planes. MAIN OUTCOME MEASURES: The images were analyzed for the presence and number of intraocular and orbital foreign bodies, anatomic location, and foreign body size. The surgical and clinical follow-up findings (contact lens examination, gonioscopy, indirect ophthalmoscopy and scleral depression, perimetry, color testing, measurement of size) were used as the gold standard to which the image results were compared. RESULTS: Helical CT showed a single intraocular foreign body in 14 patients, a single orbital foreign body in 9 patients, and multiple orbital foreign bodies in 2 patients. Intraocular or orbital foreign bodies were excluded in 11 patients. Twenty foreign bodies were correlated with surgical results. Surgical and clinical follow-up findings were in agreement with helical CT results regarding the detection and determination of the number of presumed foreign bodies. Localization to intraocular versus orbital compartment and proximity to the optic nerve was accurate in all patients. Determination of size of the foreign bodies on the helical CT images was reliable and repeatable. CONCLUSIONS: Helical CT axial scanning with multiplanar reconstruction is accurate at detecting and localizing intraocular and orbital metallic, glass, and stone foreign bodies. This imaging method aids the surgeon in choosing the surgical approach to retained intraocular and orbital foreign bodies.

Adolescent↗
PubMed1999

Sotos syndrome and cutis laxa.

Characteristics suggestive of connective tissue dysfunction have been described in Sotos syndrome and include joint hyperextensibility, pes planus, and a high arched palate. A variety of cutis laxa syndromes have also been described, some of them exhibiting mental retardation, but no reports have drawn an association with overgrowth or abnormal facies characteristic of Sotos syndrome. We report three patients with the anthropometric and dysmorphological appearance of classical Sotos syndrome in association with redundant skin folds, joint hypermobility, and, in two of the three, vesicoureteric reflux suggestive of a coexisting connective tissue disorder. All of the patients had a normal bone age suggesting that Sotos syndrome in its classically described form was not present and that this entity possibly reflects a related, perhaps allelic, condition.

Abnormalities, Multiple↗
PubMed1998

Genomic and functional map of the chromosome 14 t(12;14) breakpoint cluster region in uterine leiomyoma.

A translocation involving chromosomes 12 and 14 [t(12;14)(q15;24.1)] is commonly seen in benign smooth muscle tumor as uterine leiomyoma (UL). A contig of P1-derived artificial chromosome and bacterial artificial chromosome clones on chromosome 14, encompassing a t(12;14) breakpoint cluster region (BCR) in UL, was generated principally using the recently developed HAPPY map of chromosome 14 as a framework (P. H. Dear et al., 1998, Genomics 48: 232-241). Three UL t(12;14) breakpoints have been localized within this contig, showing that a BCR of at least 400 kb exists on chromosome 14. Other studies of tumors with t(12;14) rearrangements similarly show breakpoints within a 475-kb multiple aberration region on chromosome 12. Thus t(12;14) is an example of a translocation in which the breakpoints are located within a BCR on both chromosome 12 and chromosome 14, justifying the identification of expressed sequences that are altered in these BCR regions. A total of four expressed sequences were identified in the BCR on chromosome 14. Two of these were novel cDNAs (D14S1460E and D14S1461E). The chromosome 14 cDNAs were expressed in multiple adult tissues. The identification of a large breakpoint cluster region on chromosome 14 suggests that translocations in this region mediate their effects at a distance and also that elements that predispose this region to recurrent chromosomal translocation may be widely distributed.

Amino Acid Sequence↗
PubMed1998

Zimmermann-Laband syndrome in an adult. Long-term follow-up of a patient with vascular and cardiac complications.

Zimmermann-Laband syndrome (ZLS) is characterised by findings of coarse facial appearance, hepatosplenomegaly, and hirsutism often first observed in infancy, followed by the evolution during childhood of gingival fibromatosis, small joint hyperextensibility, and hypoplasia of the finger- and toenails. Intellectual deficit is variable. Some of these findings are suggestive of a storage disorder, but no biochemical defect has been identified. We report on a four decade follow-up of a male with ZLS who developed a cardiomyopathy and dilatation of the aortic root and arch, anomalies hitherto undescribed in this syndrome.

Abnormalities, Multiple↗