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141.
Subjects with late-onset Pompe disease (LOPD) typically present as slowly progressive proximal muscle weakness. Respiratory muscle weakness and diaphragmatic paralysis are common features, and may be the initial manifestation of the disease. There is often a poor correlation between the severity of limb and respiratory muscle weakness. Early clinical observations about disproportionate hypercapnia to the respiratory muscular weakness in late-onset Pompe disease were recognized and will be discussed with special reference to blunted respiratory drive, and the connections between early clinical observations, respiratory functional studies and anatomical findings. According to new evidence about blunted respiratory drive in Pompe disease, it is necessary to rethink what is meant by “asymptomatic Pompe disease” and propose a new phenotype with its therapeutic implications. The conceptual model of the mechanisms leading to respiratory failure in this disease could be considered according to these new findings. It may broaden the diagnostic spectrum of the adult forms and warrants a closer interaction between neurologists and pulmonologists. The recognition of this new phenotype of predominant central alveolar hypoventilation in Pompe disease will improve the understanding of the underlying mechanisms of ventilatory failure and could lead to improved future therapeutic strategies. 相似文献
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Koon H Chan Jason SC Kwan Philip WL Ho Jessica WM Ho Andrew CY Chu David B Ramsden 《Journal of neuroinflammation》2010,7(1):50
Background
Neuromyelitis optica spectrum disorders (NMOSD) are severe central nervous system inflammatory demyelinating disorders (CNS IDD) characterized by monophasic or relapsing, longitudinally extensive transverse myelitis (LETM) and/or optic neuritis (ON). A significant proportion of NMOSD patients are seropositive for aquaporin-4 (AQP4) autoantibodies. We compared the AQP4 autoantibody detection rates of tissue-based indirect immunofluorescence assay (IIFA) and cell-based IIFA. 相似文献144.
Benjamin SC Uzochukwu Lausdeus O Chiegboka Chibuike Enwereuzo Usonwanne Nwosu David Okorafor Obinna E Onwujekwe Nkoli P Uguru Florence T Sibeudu Ogochukwu P Ezeoke 《BMC public health》2010,10(1):486
Background
Rapid diagnostic tests (RDTs) and Artemisinin-based combination therapy (ACT) have been widely advocated by government and the international community as cost-effective tools for diagnosis and treatment of malaria. ACTs are now the first line treatment drug for malaria in Nigeria and RDTs have been introduced by the government to bridge the existing gaps in proper diagnosis. However, it is not known how readily available these RDTs and ACTs are in public and private health facilities and whether health workers are actually using them. Hence, this study investigated the levels of availability and use of RDTs and ACTs in these facilities. 相似文献145.
Subhash K. Hira M.D. Jagdish S. Patel M.B.Ch.B. Sheilla G. Bhat M.D. Kayombo Chilikima Dip. Cl. & Med. SC Nitin Mooney M.B.Ch.B. 《International journal of dermatology》1987,26(2):103-107
The results of a prospective study, aimed at having a fresh look at the clinical features of secondary syphilis in 89 patients, are presented. Eighty-one (91.0%) had syphilides, and of these, 24 (29.6%) had atypical morphology. Two or more groups of lymph nodes were enlarged in 60, and hepatosplenomegaly was seen in 20 (22.5%) patients. Condylomata data in atypical sites occurred in six patients. A total of 10 patients had alopecia on the scalp, and anterior uveitis was seen in 7 (7.9%). The clear CSF showed minimal elevation of lymphocytes in one of the 21 patients on whom lumbar puncture was performed and may, therefore, be considered unnecessary as a routine procedure. An awareness of the varied clinical presentations would assist in early diagnosis of the disease and help reduce its complications. 相似文献
146.
Ruth Lang M.D. Joel Bernheim M.D. Sari Bar-Sela M.SC Dina Joseph M.Sc Mordchai Ravid M.D. 《International journal of dermatology》1986,25(1):38-43
The term cutaneous T-cell lymphoma (CTCL) has recently been coined to describe a group of rare lymphoproliferative T-cell disorders classically beginning in the skin and pursuing a chronic, progressive, and indolent course eventually followed by visceral involvement. This term encompasses the spectrum of the traditional mycosis fungoides and Sézary syndrome. A unique case of CTCL that developed a fulminant course leading to death within a few months following the initial symptoms is presented. The clinical course bears a striking similarity to a group of acute T-cell malignancies, while the cytologic-pathologic findings favor the diagnosis of Sézary syndrome. Regardless of the exact classifications, this entity appears to be a highly malignant T-cell disorder, resistant to chemotherapy. 相似文献
147.
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149.
Malcolm Lane-Brown B.SC M.B. B.S. F.A.C.D. 《International journal of dermatology》1987,26(10):655-659
This first Australasian randomized trial of 5-methoxy psoralen (5-MOP) PUVA for psoriasis shows, conclusively, less acute side effects than 8-MOP PUVA. Daily addition of oral etretinate to the PUVA regimen (Re-PUVA) produces a valuable reduction in total joules and more so with 5-MOP than with 8-MOP. The clearing phase with 5-MOP Re-PUVA is quicker than with 8-MOP Re-PUVA in skin types 1, 2, and 3 (most Anglo-Saxon-Celtic Australians). Doses, when adapted to total body surface rather than mg/kg, allow superior control of therapy. Emollient creams, tar gels, nonsteroidal scalp applications, etc. allow more patient comfort. 相似文献
150.