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S Macfarlane

Publications and source records attributed to S Macfarlane.

41 records · Page 3Linked to original sources
PubMed1984

Difficulties in the neonatal diagnosis of Menkes' kinky hair syndrome--trichopoliodystrophy.

The recognition of Menkes' kinky hair syndrome, trichopoliodystrophy, may present problems in the early neonatal period. The serum copper, and ceruloplasmin levels are within the range of normal infants in the first week of life; they are higher than normal in the cord blood of affected infants and fall gradually. Pili torti may only develop later, as the primary fetal hair is normal. The baby may appear bald, or both normal and abnormal hair may be found in different areas of the skull. The roentgenographic signs of wormian bones in the skull, metaphyseal spurring of the long bones, and diverticuli of the bladder develop progressively and may not be seen until after 6 weeks of age. However, diagnosis is possible in the neonatal period, if male infants with unexplained hypothermia, hypotonia, septicemia, or seizures are investigated by serum copper and ceruloplasmin levels after 1 month of age.

Brain Diseases, Metabolic↗
PubMedDate not supplied

Postoperative chemotherapy in children less than 4 years of age with malignant brain tumors: promising initial response to a VETOPEC-based regimen. A Study of the Australian and New Zealand Children's Cancer Study Group (ANZCCSG).

PURPOSE: Postoperative chemotherapy with indefinite postponement of radiation therapy in children < 4 years old with brain tumors was investigated in a multi-institutional study. PATIENTS AND METHODS: From 1991 to 1995, 42 patients aged 3 to 47 months (median 20) with brain tumors were enrolled in a 2-phase chemotherapy protocol: 16 patients had medulloblastoma (MB); 8 had supratentorial primitive neuroectodermal tumor (PNET); 14 had ependymoma; and 4 had other tumors. The initial phase was comprised of 4 courses of the 3-drug regimen: vincristine (VCR), etoposide (VP-16), and intensive cyclophosphamide (CPA) in a previously reported schedule (VETOPEC). The continuation phase was comprised of 2-drug courses: A, CPA + VCR; B, cisplatin + VP-16; and C, carboplatin + VP-16, for a total duration of 64 weeks. RESULTS: Response to VETOPEC was evaluable in 28 patients with postresection residual (25) and/or metastatic (1 M2, 6 M3) tumor. There were 9 complete responses (CR) and 9 partial responses (PR) with a combined CR + PR of 64% (95% confidence interval [CI] 44 to 81). In 12 evaluable patients with MB, CR + PR was 82% (48 to 98); in 6 patients with PNET, 50% (12 to 88); and, in 8 patients with ependymoma, 86% (42 to 99). Of 40 patients eligible for further analysis, 6 remain progression-free at a median of 30 months, 14 are alive at a median of 38 months, 29 have progressed at a median of 7 months (range, 2 to 37 months), and 26 have died. The progression-free and overall survival rates at 36 months are estimated to be 11% (95% CI 1 to 22) and 34% (18 to 50), respectively. CONCLUSIONS: The initial response to the VETOPEC regimen is encouraging and warrants study of further dose escalation. Survival remains poor with current strategies in this high-risk population.

Antineoplastic Combined Chemotherapy Protocols↗
PubMedDate not supplied

Prosody as an interactional resource: turn-projection and overlap.

One aim of current research into talk-in-interaction is to identify the resources that enable recipients to monitor the course of a turn in progress in order to project its upcoming completion. This issue is addressed through analysis of instances of overlapping talk, focusing on their design--that is, their particular prosodic and other linguistic characteristics; their placement--in other words, where precisely they occur in relation to the turn being overlapped; and the subsequent behavior of the coparticipants. Phonetic analysis is combined with interactional techniques developed within Conversation Analysis, to warrant the relevance of categories by reference to the behavior of the participants themselves. As French and Local (1983) found, for an incoming to be treated as turn-competitive, it has to be designed with relatively high pitch and loud volume. These turn-competitive incomings are positioned within the turn in progress, and before the final major accent. By contrast, overlapping incomings positioned after the major accent are not designed as or treated as turn-competitive. On the basis of this analysis, we can define transition relevance place (TRP) as the space between the TRP-projecting accent of the current turn and the onset of the next turn. TRP-projecting accents are identifiable on independent grounds, being phonetically distinct from non-TRP-projecting accents. They thus provide a robust resource for participants to monitor the upcoming completion of the turn.

Adult↗