1/1317. Increased sister chromatid exchange in bone marrow and blood cells from Bloom's syndrome.Bone-marrow cells from a patient with Bloom's syndrome cultured for 48 h in the presence of BudR exhibited a striking increase in the number of sister chromatid exchanges (SCEs) in comparison to that in the marrow cells of a patient with treated polycythemia vera (PV). Thus, it appears that an increased incidence of SCE in Bloom's syndrome occurs in various differentiated types of cells, not just blood lymphocytes, and constitutes the syndrome's most characteristic cytogenetic feature. In contrast, the incidence of SCE was not increased in marrow cells and lymphocytes of the particular PV patient studied here, whose cells did exhibit increased numbers of chromatid and chromosome gaps and breaks, presumably as result of the patient's earlier treatment. An increased frequency of SCE was demonstrated in Bloom's syndrome lymphocytes using both a technique based on BudR incorporation and one based on labeling with tritated deoxycytidine. This observation constitutes evidence against the increase of SCE being due to an unusual reaction to BudR. By conventional cytogenetic techniques, chromosome instability, including chromatid and chromosome breaks, but no homologous chromatid interchanges were also recognized in Bloom's syndrome bone-marrow cells incubated in vitro (without BudR) for either 1.k or 16 h. This observation points to the existence of chromosome instability in vivo.- - - - - - - - - - ranking = 1keywords = bone (Clic here for more details about this article) |
2/1317. MR and CT imaging in the Dyke-Davidoff-Masson syndrome. Report of three cases and contribution to pathogenesis and differential diagnosis.Cerebral hemiatrophy or Dyke-Davidoff-Masson syndrome is a condition characterized by seizures, facial asymmetry, contralateral hemiplegia or hemiparesis, and mental retardation. These findings are due to cerebral injury that may occur early in life or in utero. The radiological features are unilateral loss of cerebral volume and associated compensatory bone alterations in the calvarium, like thickening, hyperpneumatization of the paranasal sinuses and mastoid cells and elevation of the petrous ridge. The authors describe three cases. Classical findings of the syndrome are present in variable degrees according to the extent of the brain injury. Pathogenesis is commented.- - - - - - - - - - ranking = 0.2keywords = bone (Clic here for more details about this article) |
3/1317. Epidermal naevus syndrome and hypophosphataemic rickets: description of a patient with central nervous system anomalies and review of the literature.The epidermal naevus syndrome (ENS) is a rare dermatological condition consisting of congenital epidermal nevi associated with anomalies in the central nervous system, bones, eyes, hear or genito-urinary system. We report a new case of ENS associated with hypophosphataemic rickets. The girl was born with a mixed-type epidermal naevus and skeletal anomalies. Hypophosphataemic rickets was diagnosed at the age of 2.5 years. At 14 years of age. MRI of the head demonstrated right brain hypotrophy, a left temporal arachnoid cyst and asymmetric lateral ventricles. We reviewed the literature and found 13 reported cases of ENS associated with hypophosphataemic rickets. Conclusion We report a further patient with epidermal naevus syndrome and hypophosphataemic rickets, followed from birth to the age of 15 years, who had structural central nervous system anomalies with normal intellectual functioning. A comprehensive neurological work up is recommended in patients with epidermal naevus syndrome.- - - - - - - - - - ranking = 0.2keywords = bone (Clic here for more details about this article) |
4/1317. The fourth-compartment syndrome: its anatomical basis and clinical cases.We propose a new term, the "fourth-compartment syndrome" to describe chronic dorsal wrist pain of the fourth compartment. Five main causes responsible for this syndrome are thought to be as follows: 1. Ganglion involvement, including an occult ganglion; 2. Extensor digitorum brevis manus muscle; 3. Abnormal extensor indicis muscle; 4. Tenosynovialitis; 5. Anomaly or deformity of carpal bones. Should the above mentioned conditions occur in the fourth compartment, pressure within the fourth compartment increases, ultimately compressing the posterior interosseous nerve directly or indirectly. Anatomical studies of the fourth compartment of the wrist and the posterior interosseous nerve are presented and the fourth-compartment syndrome is summarized with twelve clinical cases (six cases of occult ganglions, two cases of extensor digitorum brevis manus, two cases of tenosynovialitis, one case of abnormal extensor indicis muscle, and one case of carpal bossing).- - - - - - - - - - ranking = 0.2keywords = bone (Clic here for more details about this article) |
5/1317. Bilateral basal ganglial necrosis after allogeneic bone marrow transplantation in a child with Kostmann syndrome.A 6-year-old girl underwent allogeneic BMT from a matched sibling donor for the treatment of Kostmann syndrome. She suddenly became drowsy on day 30 after BMT, and lost consciousness 2 days later. Cranial CT scan showed symmetrical lesions suggesting bilateral necrosis in the basal ganglia. Clinical and laboratory investigations failed to reveal any evidence of neurometabolic disease.- - - - - - - - - - ranking = 0.8keywords = bone (Clic here for more details about this article) |
6/1317. Ophthalmic findings in GAPO syndrome.BACKGROUND: The main manifestations of GAPO syndrome are growth retardation (G), alopecia (A), pseudoanodontia (P), and optic atrophy (O). CASES: This syndrome has been described in 21 patients from 16 different families. Four cases are from turkey and have been presented by Sayli and Gul. The purpose of our study is to document the cases from turkey and discuss the ophthalmological and neuro-ophthalmolgical findings of these and other reported GAPO cases. OBSERVATIONS: All patients in the literature and our 4 cases have severe growth retardation with delayed bone age in infancy, characteristic facial appearance (high and bossed forehead, midface hypoplasia), alopecia or severe hypotrichosis, and pseudoanodontia. optic atrophy was present in 1 of our cases and in 5 previous cases. glaucoma was present in 5 cases, including 2 of ours. Buphthalmia and keratopathy secondary to glaucoma were also observed. White eyelashes, seen only in our cases, may be a sign of "early senility." CONCLUSIONS: optic atrophy is not a constant finding in GAPO syndrome. glaucoma may accompany the ocular findings. This syndrome has been attributed to either ectodermal dysplasia or the accumulation of extracellular connective tissue matrix, due to an enzyme deficiency involved in its metabolism. Current studies show that an elastin defect and secondary changes in collagen may be important in the pathogenesis of the disease.- - - - - - - - - - ranking = 0.2keywords = bone (Clic here for more details about this article) |
7/1317. posterior leukoencephalopathy syndrome may not be reversible.The association of an acute reversible encephalopathy with transient occipital lobe abnormalities on imaging studies is well known. This condition has been called reversible posterior leukoencephalopathy syndrome. The clinical presentation usually includes seizures, headache, altered mental status, and blindness, often associated with hypertension and immunosuppressants. The authors discuss a two-year-old male with down syndrome who presented 2 months after allogeneic bone marrow transplantation with severe oculogyric crisis, without other complaints. The patient was being treated for hypertension and was receiving cyclosporine for prophylaxis of graft-vs-host disease. A computed tomography scan of the head revealed marked bilateral lucencies mainly involving the white matter of the occipital lobes, with a few foci of punctate hemorrhage. The condition improved when cyclosporine was discontinued, but an area of leukomalacia was identified on follow-up magnetic resonance imaging. To the authors' knowledge, oculogyric crisis as a presentation of reversible posterior leukoencephalopathy has not been previously described. Recognizing this association is important, because patients receiving cyclosporine are often receiving other medications that can potentially cause dystonic eye movements, possibly leading to a delay in diagnosis and treatment, which can result in an irreversible neurologic deficit.- - - - - - - - - - ranking = 0.2keywords = bone (Clic here for more details about this article) |
8/1317. Robinow (fetal face) syndrome: report of a boy with dominant type and an infant with recessive type.The cases of two patients with Robinow fetal face syndrome, an 11-year-old Thai boy and a newborn Caucasian girl, are described. The Thai boy had the characteristics typical of the dominant type of the syndrome with a few newly recognized signs, including communicating hydrocephalus, underdeveloped sinuses, short roots of the teeth, narrow and thick-floored pulp chambers, hypoplastic nipples, absent middle phalanges of the second to fifth toes, cone-shaped epiphyses of the second and fourth fingers and fifth toes, single creases of the fourth and fifth fingers, clinodactyly of the third fingers, dysmorphic umbilicus, and shawl scrotum. The girl had anomalies typical of the recessive type of the syndrome. She also had capillary hemangioma at the tip of her nose and hypoplastic fourth metatarsal bones, which are the newly recognized features of the recessive type. Infrequently reported clinical manifestations of the syndrome are discussed.- - - - - - - - - - ranking = 0.2keywords = bone (Clic here for more details about this article) |
9/1317. Unilateral laparoscopic adrenalectomy followed by contralateral retroperitoneoscopic partial adrenalectomy in a patient with multiple endocrine neoplasia type 2a syndrome.We report the first patient who had bilateral pheochromocytoma associated with multiple endocrine neoplasia type 2a syndrome (MEN 2a) and underwent unilateral laparoscopic adrenalectomy followed by contralateral retroperitoneoscopic partial adrenalectomy 2 years later. The postoperative course was uneventful both times, and the patient was cured of hypertension without any need for steroid replacement. Endoscopic partial adrenalectomy is a minimally invasive procedure for pheochromocytoma with mild symptoms. We believe that this procedure has considerable potential for treating bilateral pheochromocytoma, which is frequently observed in patients with MEN 2a.- - - - - - - - - - ranking = 3.6223153856779keywords = endocrine (Clic here for more details about this article) |
10/1317. Wells' syndrome (eosinophilic cellulitis): correlation between clinical activity, eosinophil levels, eosinophil cation protein and interleukin-5.Wells' syndrome (WS) (eosinophilic cellulitis) is characterized by the presence of oedematous skin lesions associated with eosinophilia of the tissues. It has recently been observed that in patients with this disease, increased eosinophil cation protein (ECP) and interleukin (IL) -5 can be detected in peripheral blood, with T lymphocytes that have mRNA for this lymphokine. We present a patient with WS in whom we found a close correlation between clinical activity, eosinophils in blood and bone marrow, and ECP and IL-5 levels in peripheral blood and tissues. We underline the major part played by IL-5 in this disease.- - - - - - - - - - ranking = 0.2keywords = bone (Clic here for more details about this article) |
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