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31.
Rickets is reported in a 19 year old white man with cystic fibrosis in whom pancreatic and hepatic involvement was advanced. There was evidence of secondary hyperparathyroidism with proximal renal tubular acidosis, aminoaciduria, phosphaturia and hypophosphatemia. Treatment with oral pancreatic and parenteral vitamin D supplements led to full recovery of the rachitic syndrome and the proximal renal tubular dysfunction. 相似文献
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We describe a case of 64-year-old female patient with ventricular tachycardia intractable to medical treatment and acute heart failure following myocardial infarction. Emergency surgical ventricular reconstruction and subendocardial resection was undertaken. We discuss the option of surgical intervention in this difficult and unusual clinical scenario. 相似文献
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The herpesvirus Human Cytomegalovirus (HCMV) is an important opportunistic infection in recipients of allogeneic haemopoietic stem cell transplants, in whom HCMV-specific CD8+ and CD4+ T-cell responses are impaired. The nature of the HCMV-specific T-cell response in healthy virus carriers has been characterised in detail. High frequencies of circulating CD8+ T-cells that recognise defined viral peptides are maintained for years, and include individual CD8+ clones that have undergone extensive clonal expansion and phenotypic diversification in vivo. Following stem cell transplantation, the kinetics of HCMV-specific CD8+ T-cell reconstitution in the recipient are related to the presence or absence of antigen-experienced CD8+ T-cells transferred via the allograft, and to the presence of the virus in the recipient. We discuss recent progress in our understanding of HCMV-specific immunity in healthy virus carriers and in recipients after alloSCT. 相似文献
36.
The relief of bone pain in primary biliary cirrhosis with calcium infusions 总被引:1,自引:0,他引:1 下载免费PDF全文
Intravenous calcium infusions produced subjective relief of bone pain in 14 patients with primary biliary cirrhosis. The bone pain had developed despite long-term parenteral vitamin D therapy. The pain returned after two to three months, but a subsequent course of infusions again brought relief. Before treatment satisfactory iliac crest bone biopsies were obtained in 11 of the patients and were normal in seven; two patients had biopsies indicating osteomalacia and two osteoporosis. After treatment a repeat biopsy in one of the patients with osteomalacia showed marked reduction in osteoid. The infusion treatment produced no change in plasma calcium concentration, serum phosphate, or serum alkaline phosphatase. Absorption of oral calcium was also unchanged. 相似文献
37.
Reid GD Wills HJ Shukla A Hammill P 《The Australian & New Zealand journal of obstetrics & gynaecology》2008,48(2):185-188
BACKGROUND: While the traditional approach to management of cervical insufficiency has been the insertion of a transvaginal cerclage during pregnancy, a transabdominal cervico-isthmic suture is indicated in certain patients. This procedure is traditionally performed via laparotomy. Laparoscopic transabdominal cervico-isthmic cerclage (LTCC) placement, however, confers the benefit of the low morbidity associated with laparoscopy. AIMS: To describe the technique and outcomes of LTCC in three cases. METHODS: LTCC was performed using Mersilene tape at the level of the internal cervical os in the prepregnancy period in three patients: one with previous cervical amputation and two with previous failed cervical cerclage. Procedures were performed at a tertiary level endoscopic unit, Sydney, Australia. RESULTS: The laparoscopic approach enabled placement of a suture with no morbidity, and rapid patient recovery in these cases. CONCLUSIONS: Laparoscopic cervical cerclage proved technically feasible and safe for a surgeon trained in laparoscopic suturing methods. 相似文献
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Josephine Hegarty Victoria Howson Teresa Wills Sile A. Creedon Pat Mc Cluskey Aoife Lane Aine Connolly Nuala Walshe Brendan Noonan Fiona Guidera Anthony G Gallagher Siobhan Murphy 《International wound journal》2019,16(3):641-648
The aim of this study was to develop an observational metric that could be used to assess the performance of a practitioner in completing an acute surgical wound‐dressing procedure using aseptic non‐touch technique (ANTT). A team of clinicians, academics, and researchers came together to develop an observational metric using an iterative six‐stage process, culminating in a Delphi panel meeting. A scoping review of the literature provided a background empirical perspective relating to wound‐dressing procedure performance. Video recordings of acute surgical wound‐dressing procedures performed by nurses in clinical (n = 11) and simulated (n = 3) settings were viewed repeatedly and were iteratively deconstructed by the metric development group. This facilitated the identification of the discrete component steps, potential errors, and sentinel (serious) errors, which characterise a wound dressing procedure and formed part of the observational metric. The ANTT wound‐dressing observational metric was stress tested for clarity, the ability to be scored, and interrater reliability, calculated during a further phase of video analysis. The metric was then subjected to a process of cyclical evaluation by a Delphi panel (n = 21) to obtain face and content validity of the metric. The Delphi panel deliberation verified the face and content validity of the metric. The final metric has three phases, 31 individual steps, 18 errors, and 27 sentinel errors. The metric is a tool that identifies the standard to be attained in the performance of acute surgical wound dressings. It can be used as both an adjunct to an educational programme and as a tool to assess a practitioner's performance of a wound‐dressing procedure in both simulated and clinical practice contexts. 相似文献
40.
Gene conversion is a likely cause of mutation in PKD1 总被引:3,自引:0,他引:3
Watnick TJ; Gandolph MA; Weber H; Neumann HP; Germino GG 《Human molecular genetics》1998,7(8):1239-1243
Approximately 70% of the gene responsible for the most common form of
autosomal dominant polycystic kidney disease ( PKD1 ) is replicated in
several highly homologous copies located more proximally on chromosome 16.
We recently have described a novel technique for mutation detection in the
duplicated region of PKD1 that circumvents the difficulties posed by these
homologs. We have used this method to identify two patients with a nearly
identical cluster of base pair substitutions in exon 23. Since pseudogenes
are known to be reservoirs for mutation via gene conversion events for a
number of other diseases, we decided to test whether these sequence
differences in PKD1 could have arisen as a result of this mechanism. Using
changes in restriction digest patterns, we were able to show that these
sequence substitutions are also present in N23HA, a rodent-human somatic
cell hybrid that contains only the PKD1 homologs. Moreover, these changes
were also detected in total DNA from several affected and unaffected
individuals that did not harbor this mutation in their PKD1 gene copy. This
is the first example of gene conversion in PKD1 , and our findings
highlight the importance of using gene-specific reagents in defining PKD1
mutations.
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