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At least 1,153 records · Page 64Linked to original sources
PubMed2002

A 52-kb deletion in the SOST-MEOX1 intergenic region on 17q12-q21 is associated with van Buchem disease in the Dutch population.

Van Buchem disease is an autosomal recessive sclerosing bone dysplasia characterized by skeletal hyperostosis, overgrowth of the mandible, and a liability to entrapment of the seventh and eighth cranial nerves. The genetic determinant maps to chromosome 17q12-q21. We refined the critical interval to the < 1-Mb region between D17S2250 and D17S2253 in 15 affected individuals, all of whom shared a common disease haplotype. Furthermore, we report here the identification of a 52-kb deletion located within the interval and encompassing D17S1789 that is 100% concordant with the disorder. Although the deletion itself does not appear to disrupt the coding region of any known or novel gene(s), the closest flanking genes are MEOX1 on the proximal side, and SOST on the distal side of the deletion. MEOX1 is known to be important for the development of the axial skeleton, whereas the SOST gene is the determinant of sclerosteosis, a disorder that shares many features with van Buchem disease, thus raising the possibility that van Buchem disease results from dysregulation of the expression of one or both of these genes.

Adaptor Proteins, Signal Transducing↗
PubMed1991

Autosomal recessive cerebellar hypoplasia and endosteal sclerosis: a newly recognized syndrome.

We describe a brother and sister and an unrelated boy with congenital cerebellar hypoplasia and endosteal sclerosis. All 3 children presented with ataxia and developmental delay, and were found to have microcephaly, short stature, oligodontia, strabismus, nystagmus, and congenital hip dislocation. A previously published case is reviewed. The disorder appears to represent a newly recognized autosomal recessive syndrome.

Cerebellum↗
PubMed1992

New distinct lethal osteosclerotic bone dysplasia (Raine syndrome).

We report a third case of a rare neonatal lethal sclerotic bone disorder with distinct craniofacial anomalies and striking radiographic and hitherto undescribed histopathologic features. The remarkable similarity between our patient and 2 recently reported infants suggests strongly a distinct entity. We propose the term Raine syndrome as a convenient identification of this disorder.

Exophthalmos↗
PubMed1993

Is visual field reduction a component manifestation of osteopathia striata with cranial sclerosis?

A girl with fully expressed osteopathia striata with cranial sclerosis (OS) was also found to have a contraction of the two visual fields, a sign never previously described in OS syndrome. We suggest that the visual field defect is a component manifestation of OS syndrome, whose pathogenesis is represented by distortion of the optic canal and narrowing of the optic foramina.

Bone Diseases↗
PubMed2005

Cerebellar hypoplasia-endosteal sclerosis: a long term follow-up.

Cerebellar hypoplasia with endosteal sclerosis is an infrequent entity that has been described in only four cases. Major clinical symptoms are cerebellar hypoplasia causing ataxia, hypotonia, mild to moderate developmental delay, microcephaly, growth retardation, endosteal sclerosis, tooth eruption disturbances, and hip dislocations. We report on a girl with this entity, whom we followed for 11 years. The endosteal sclerosis remained stationary over time, as were the clinical neurological symptoms, but neuroadiological symptoms were slowly progressive. We provide a short review of this probably autosomal recessively inherited disorder. (c) 2005 Wiley-Liss, Inc.

Abnormalities, Multiple↗
PubMed1985

Axonal attenuation and secondary segmental demyelination in myeloma neuropathies.

The sural nerves of 5 patients with osteosclerotic myeloma and polyneuropathy, of 3 patients with multiple myeloma and polyneuropathy, and of 6 healthy subjects were studied by neuropathological, morphometric, and teased-fiber approaches to assess cellular (Schwann cell or axon) vulnerability and to explore the mechanism of segmental demyelination. As compared with controls, the nerves of both types of myeloma neuropathy demonstrated a statistically significant and marked loss of myelinated fibers and increased frequencies of axonal degeneration among teased fibers at statistically significant levels. The peaks of diameter histograms of myelinated fibers of osteosclerotic myeloma/polyneuropathy nerves were displaced to smaller diameter categories, suggesting fiber atrophy. Segmental demyelination and remyelination was clustered, as found in secondary demyelination. Large- and intermediate-diameter myelinated fibers of osteosclerotic myeloma/polyneuropathy nerves had significantly smaller axon calibers relative to myelin spiral length seen in electron micrographs. The loss of myelinated fiber axons, the shift of the peaks of diameter histograms to smaller sizes, the lack of noticeable increased numbers of demyelinated axons, the clustered distribution of segmental demyelination, and the axonal attenuation suggest a special axonal or neuronal vulnerability and appear to provide an explanation for the observed segmental demyelination. Whether axonal attenuation has a perikaryeal or proximal axonal genesis now needs to be determined.

Adult↗
PubMed1986

POEMS syndrome. Study of a patient with proteinuria, microangiopathic glomerulopathy, and renal enlargement.

We studied a patient with POEMS syndrome (plasma cell dyscrasia with polyneuropathy, organomegaly, endocrinopathy, monoclonal [M]-protein, skin changes) who was also found to have renal enlargement and microangiopathic glomerulopathy. The latter finding is unusual in POEMS syndrome patients, and the associated symptoms can lead to confusion in diagnosis. We emphasize the importance of considering POEMS syndrome in the differential diagnosis of patients who have unexplained neuropathy, scleroderma-like skin changes, and/or monoclonal gammopathy.

Adult↗
PubMed1996

All-trans-retinoic acid in POEMS syndrome. Therapeutic effect associated with decreased circulating levels of proinflammatory cytokines.

Chronically elevated serum levels of proinflammatory cytokines is a feature of the syndrome known as POEMS (plasma cell dyscrasia with polyneuropathy, organomegaly, endocrinopathy, monoclonal [M] protein, skin changes). A patient had a POEMS syndrome with thrombocytosis and biclonal gammopathy and was treated as follows: all-trans-retinoic acid (tretinoin) at 90 mg/day for 50 days, no treatment for 70 days, readministration of tretinoin at 75 mg/day for 180 days. Focal bone lesion irradiation was performed from day 26 to day 50. Serum levels of interleukin-6 (IL-6), tumor necrosis factor alpha (TNF alpha), and IL-1 beta normalized within 7 days after the first administration of tretinoin, transiently increased at the time of radiotherapy, increased again after withdrawal of the tretinoin, and decreased again after its reintroduction. The platelet count and gammopathy paralleled the changes in the cytokine levels. This study documents in vivo the ability of all-trans-retinoic acid to down-regulate the release of IL-6, IL-1 beta, and TNF alpha, and illustrates its potential as a therapeutic agent in conditions associated with chronic overproduction of proinflammatory cytokines.

Cytokines↗
PubMed2001

Dental and oral manifestations of sclerosteosis.

AIMS AND OBJECTIVES: Documentation of the oral and dental manifestations of Sclerosteosis. SETTING AND PARTICIPANTS: Sclerosteosis is a member of the family of genetic craniotubular hyperostoses. This severe progressive sclerosing bone dysplasia has important orofacial manifestations and a wide geographical distribution. Comprehensive oral and dental evaluation of eight affected adults in the Afrikaner community of South Africa was undertaken. RESULTS: Gross asymmetrical hypertrophy of the mandible was present in all eight patients, bilateral or unilateral facial paralysis with weakness of facial muscles due to facial nerve entrapment was present in six. Drooling of saliva and difficulties with mastication were frequent problems in these persons. The teeth were structurally and mechanically normal although there was partial anodontia in two patients and delayed eruption in another. Maxillary (palatal) and mandibular tori were present in every affected person. Due to the hyperostosis of the maxilla and mandible, tooth extraction was often a very difficult matter. There were no instances of post-extraction osteomyelitis of the mandible. CONCLUSIONS: Accurate differentiation of sclerosteosis from the other sclerosing bone dysplasias is crucial for effective dental prognostication and management.

Adult↗
PubMed2005

In vivo performance of the Nitinol shape-memory stapes prosthesis during hearing restoration surgery in otosclerosis: a first report.

The limitations of manual prosthesis crimping in hearing restoration surgery for otosclerosis are thought to have a key role in the occurrence of incomplete postoperative elimination of conductive hearing loss and postoperative recurrences of conductive hearing loss. To eliminate manual crimping, the self-crimping, shape-memory alloy Nitinol stapes piston was introduced in nine otosclerosis patients. The results were compared with those in a database of surgeries performed with conventional titanium pistons. The effects of the self-crimping Nitinol prosthesis on the postoperative elimination of conductive hearing loss and its postoperative variations were investigated. The variations of postoperative residual conductive hearing loss were significantly smaller and the extent of conductive hearing-loss elimination greater in the Nitinol group. The mean postoperative residual conductive hearing loss was smaller in the Nitinol group. The postoperative stability of conductive hearing loss elimination was similar in both patient groups. Preliminary results suggest that the self-crimping shape-memory alloy Nitinol stapes piston overcomes the drawbacks of manual crimping in hearing restoration surgery for otosclerosis.

Adult↗
PubMed1985

Therapeutic trial of plasma exchange in osteosclerotic myeloma associated with the POEMS syndrome.

A patient with osteosclerotic myeloma and POEMS syndrome, unresponsive to pulse prednisone and melphalan therapy, was admitted to the hospital for a trial of plasma exchange therapy. The presentation included IgG lambda monoclonal gammopathy, peripheral neuropathy, hepatosplenomegaly, hyperpigmentation and thickening of the skin, edema, and tense ascites. Laboratory tests confirmed hypothyroidism, hypogonadism, and adrenal insufficiency. Six exchange procedures failed to affect the clinical course, and the patient died. Greater-than-one-plasma-volume exchanges (patient's measured plasma volume, 2,703 cc) were performed. When IgG and cholesterol removal were compared to the predicted removal, based on the volume of plasma removed, significantly less reduction in concentration than predicted was measured. IgG concentrations increased postapheresis and, at 2 weeks, three-fourths of the removed IgG had reaccumulated. A reduced efficiency of removal of both IgG and cholesterol can be explained by postulating increased vascular permeability with free exchange of soluble substances from one compartment to another. If an abnormal product is produced by the disease and is responsible for the clinical syndrome, a more intensive schedule of plasma exchange therapy may be needed to achieve a sustained depletion of the responsible soluble substance. Alternatively, neither increased vascular permeability or the clinical manifestations are responsive to removal of a soluble substance or are caused by a soluble substance produced by the malignancy.

Adrenal Insufficiency↗