Cases reported "Endocrine System Diseases"

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1/27. X-chromosome inactivation analysis in a female carrier of FOXP3 mutation.

    Immune dysregulation, polyendocrinopathy and enteropathy with X-linked inheritance (IPEX) is a serious disease arising from mutations in FOXP3. This gene codifies for a transcription factor whose dysfunction results in hyperactivation of T cells. It is not clear, however, why an intermediate phenotype is not seen in heterozygous females, who are completely healthy. In order to address this question, we investigated X-chromosome inactivation in peripheral blood lymphocytes from a heterozygous female with a child affected by IPEX. No preferential inactivation was shown in freshly sorted CD4 , CD8 , CD19 cells or in IL-2 cultured CD4 and CD8 T cells, indicating that peripheral blood lymphocytes in these women are randomly selected. Moreover, only one single FOXP3 transcript was expressed by CD4 T cell clones analysed by RT-PCR, confirming that this gene is subject to X- inactivation. We hypothesize that hyper-activation of T cell in carriers of FOXP3 mutations is regulated by the presence of normal regulatory T cells.
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ranking = 1
keywords = peripheral
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2/27. Left ventricular mass in a patient with Carney's complex.

    IMPLICATIONS: Carney's complex is characterized by cardiac myxomas, adrenocortical disease, growth hormone-secreting adenomas, and other types of tumors. Its prevalence and incidence are unknown. The anesthesiologist must examine the patient or order tests to exclude cardiac tumors, signs of excess cortisol secretion, acromegaly, and possible peripheral nerve root involvement.
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ranking = 1.5136162520362
keywords = peripheral nerve, peripheral, nerve
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3/27. optic nerve hypoplasia in cholestatic infants: a multiple case study.

    PURPOSE: To present four infants with optic nerve hypoplasia and cholestasis. methods: All patients underwent detailed ophthalmological and hepatological assessment. Their endocrinological and neuroradiological examinations were re-evaluated. RESULTS: All four infants presented with cholestasis and were subsequently found to have optic nerve hypoplasia. One child was blind according to the WHO definition and two had low vision. The fourth child had unilateral optic nerve hypoplasia and was too young to be assessed with optotypes. All four children had central nervous system and/or endocrine dysfunction. However, only one child had septo-optic dysplasia. The longterm outcome of liver disease seemed favourable in all children. CONCLUSION: Early assessment by a paediatric ophthalmologist as well as a multidisciplinary approach is of great importance in cholestatic infants.
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ranking = 0.24745054982789
keywords = nerve
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4/27. septo-optic dysplasia: a literature review.

    BACKGROUND: septo-optic dysplasia (SOD) is a rare disorder characterized by optic nerve hypoplasia with any combination of absent septum pellucidum and/or pituitary dysfunction. SOD may manifest as strabismus, nystagmus, decreased visual acuity, or visual impairment; as an endocrine dysfunction in isolation; or in addition to mental retardation, cerebral palsy, developmental delay, or delayed growth. METHOD: This article reviews the presenting signs and symptoms of SOD, optic nerve hypoplasia, consequences of an absent septum pellucidum, endocrine findings associated with SOD, SOD diagnosis determination, syndromes associated with SOD, and optometry's role in caring for these patients. It also examines two cases that demonstrate the variety and severity of visual and physical impairments associated with SOD. RESULTS: SOD has a multi-factorial etiology, including insult during pregnancy (e.g., viral infections, gestational diabetes); vascular disruption; or a genetic mutation. Children with SOD may manifest a variety of visual and/or physical symptoms that range from mild to severe. CONCLUSIONS: The associated vision, developmental, neurologic, and endocrine disturbances require early diagnosis and management. Optometrists need to be aware of optic nerve hypoplasia (ONH) and consider this diagnosis in patients with visual acuity loss. A comprehensive eye examination and visual-field assessment should be completed in addition to appropriate referrals for endocrine, developmental, and/or cognitive anomalies.
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ranking = 0.10605023564052
keywords = nerve
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5/27. P.O.E.M.S. syndrome with complete recovery after treatment of a solitary plasmocytoma.

    The P.O.E.M.S. syndrome is a rare clinical entity that has been described mainly in japan. It is characterized by a progressive polyneuropathy with raised CSF protein content, organomegaly, endocrinopathy, skin changes and plasma cell dyscrasia. We report a new documented case associated with a solitary plasmocytoma of the 12th thoracic vertebra. Immunopathological and ultrastructural studies of the peripheral nerve did not disclose any immune-specific changes. Surgery and radiation therapy of the plasmocytoma allowed a complete recovery, with a 5-year follow-up. This case report illustrates the need for serial full skeletal survey, including scintigraphy, in middle-aged patients with progressive polyneuropathy of obscure origin.
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ranking = 1.820309030819
keywords = peripheral nerve, peripheral, neuropathy, nerve
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6/27. Phenotypic multiple endocrine neoplasia type 2b, without endocrinopathy or RET gene mutation: implications for management.

    The multiple endocrine neoplasia (MEN) type 2B is an autosomal dominant condition characterized by aggressive medullary C-cell tumors, pheochromocytoma, and a discrete physical appearance (marfanoid habitus, prominent corneal nerve fibers, thick lips, and mucosal and intestinal neuromas). A specific point mutation in the RET proto-oncogene is present in 95% cases. Occasionally cases present with the characteristic physical appearance of MEN 2B but no identifiable germline mutation or endocrinopathy, and it has been suggested that these patients may represent a discrete subgroup termed pure mucosal neuroma syndrome (MNS). We present a patient with MNS, who had a thyroidectomy at age 14.5 years with normal thyroid histology. Direct sequencing of all 20 exons of the RET gene showed no mutation. This case supports the suggestion that pure MNS can exist in the absence of an identifiable RET gene mutation. We suggest that prophylactic thyroidectomy is unnecessary in these patients although they should still be screened for endocrinopathy on a regular basis.
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ranking = 0.035350078546841
keywords = nerve
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7/27. poems syndrome with IgA lambda monoclonal gammopathy.

    The various association of polyneuropathy, organomegaly, endocrinopathy, monoclonal protein and skin changes has been called the poems syndrome. Herein we report a case in which all the typical clinical and laboratory findings of the poems syndrome were present. We emphasize as the most striking features of our case the following: the similarity with scleroderma, the peripheral nerve demyelination without the presence of antibodies against nerve components, the occurrence of an IgA lambda monoclonal gammopathy and Castleman-like features at a single enlarged lymph node. To our knowledge, this is the first such case reported in italy.
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ranking = 1.7023127199745
keywords = peripheral nerve, peripheral, neuropathy, nerve
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8/27. poems syndrome: ultrastructural observations on the sural nerve.

    POEMS is an acronym that stands for a multisystem disorder that includes progressive sensorimotor Polyneuropathy, Organomegaly, Endocrinopathy, an M component in blood and/or concentrated urine, and skin changes. The morphology of the peripheral nerves was mentioned in some of these cases and ranged from normal to those with segmental demyelination and/or degeneration of myelinated axons. We analyzed quantitatively the sural nerves of two cases of poems syndrome. Both nerves showed a severe loss of myelinated fibers, with a minor degree of regeneration. Degeneration of unmyelinated axons was observed, but to a lesser degree. There was marked collagen deposition in the endoneurium. The pathogenesis of the changes in the peripheral nerves and other organs in poems syndrome is still to be elucidated.
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ranking = 3.3926793647449
keywords = peripheral nerve, peripheral, neuropathy, nerve
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9/27. optic disk swelling with peripheral neuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes (poems syndrome).

    We reviewed charts of patients seen at Mayo Clinic Rochester and Mayo Clinic Jacksonville to determine the importance and frequency of optic disk swelling in patients with peripheral neuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes (poems syndrome). A computer search identified 148 patients who were classified as having a monoclonal gammopathy and peripheral neuropathy. A review of the 148 charts disclosed that 11 patients had poems syndrome. Eight of these 11 patients had optic disk swelling identified by an ophthalmologist. In all eight patients, optic disk swelling was either the initial sign or was present the first time we saw the patient. optic disk swelling may be an early sign in poems syndrome.
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ranking = 3.9200783363485
keywords = peripheral, neuropathy
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10/27. Glomeruloid hemangioma. A distinctive cutaneous lesion of multicentric Castleman's disease associated with poems syndrome.

    A histologically distinctive cutaneous hemangioma occurring in two patients with biopsy-proven multicentric Castleman's disease associated with POEMS (polyneuropathy, organomegaly, endocrinopathy, M-protein, skin changes) syndrome are reported. The lesions were multiple, and appeared as red to purple papules over the trunk and proximal limbs. Microscopically, ecstatic dermal vascular spaces were seen filled with aggregates of capillaries, resulting in structures reminiscent of renal glomeruli. Interspersed between the blood-filled capillary loops were plump "stromal" cells possessing clear vacuoles and periodic acid-schiff-positive eosinophilic globules. These cells had the immunohistochemical profile of endothelial cells (positivity for factor viii-related antigen, and negativity for leukocyte common antigen, macrophage marker, and muscle-specific actin), and probably represented immature elements that had accumulated immunoglobulins and other proteinaceous material from the circulation. Because vascular lesions may appear before the full-blown poems syndrome develops, we suggest careful evaluation and follow-up of all patients presenting with glomeruloid hemangioma or cherry-type capillary hemangioma with focal glomeruloid features for potential development of this syndrome.
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ranking = 0.15334638939141
keywords = neuropathy
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