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51.
G. Neri V. Sammito C. Romano S. Sanfilippo J. M. Opitz James F. Reynolds 《American journal of medical genetics. Part A》1988,29(3):477-482
We report on two unrelated patients with fetal alcohol syndrome with hypoplasia of the periocular region, resulting in a low and narrow forehead and hypotelorism. Other typical manifestations of the syndrome involving the facial midline are also present. These observations can be added to clinical and experimental evidence from other authors, supporting the concept that the facial anomalies of the fetal alcohol syndrome are the expression of a midline defect originating from the disruption of the ordered development of midline mesoderm cells during early embryogenesis. 相似文献
52.
Magnano A Privitera A Calogero G Nanfito' L Basile G Sanfilippo G 《Journal of pediatric surgery》2005,40(10):e25-e27
Solitary small intestine hemangiomas are rare and usually present with overt bleeding or chronic anemia. Diagnosis is usually difficult because traditional imaging techniques often lack accuracy. Capsule endoscopy is a new diagnostic tool that has showed greater sensitivity than other methods to reveal causes of bleeding in the small intestine. A case of hemangioma of the ileum in a 13-year-old boy is presented. Capsule endoscopy allowed diagnosis and planning of surgical treatment. 相似文献
53.
54.
Madhotra D Fenton JE Makura ZG Charters P Roland NJ 《Irish journal of medical science》2004,173(4):197-199
Background The timing of aggressive airway intervention in adult epiglottitis is controversial.
Aims To correlate Friedman’s staging of epiglottitis on admission with the airway interventions undertaken.
Methods A retrospective study of 23 adult patients, mean age 51 years (range 29–81 years), who had been admitted with acute supraglottitis
between March 1988 and December 2000 was undertaken.
Results Three patients (13%) had airway interventions; two with tracheostomy and one with tracheal intubation. All were Friedman
stage III and had rapid symptom progression during the 24 hours prior to admission. Three other stage III patients with symptom
progression longer than 24 hours and all the remaining patients (stage II or less) were managed with observation and intravenous
therapy.
Conclusions Friedman originally advocated airway intervention in any patient stage II or worse, but this intubation threshold should
probably be lowered to those patients with rapid-onset stage III (moderate respiratory distress, stridor, respiratory rate
>30 per minute, pCO2 >45mmHg) disease. 相似文献
55.
diZerega GS Verco SJ Young P Kettel M Kobak W Martin D Sanfilippo J Peers EM Scrimgeour A Brown CB 《Human reproduction (Oxford, England)》2002,17(4):1031-1038
BACKGROUND: Adhesion-related readmissions are frequent sequelae to gynaecological surgery. Attempts to prevent adhesions by separating healing peritoneal surfaces include site-specific barriers and hydroflotation by instilled solutions. Rapid absorption limits the effectiveness of solutions such as Ringer's lactated saline (RLS). This pilot study assessed the safety, tolerability and preliminary effectiveness of a non-viscous, iso-osmolar solution of 4% icodextrin, an alpha-1,4 glucose polymer with prolonged intraperitoneal residence, in reducing adhesions after laparoscopic gynaecological surgery. METHODS: Women aged > or = 18 years, requiring laparoscopic adnexal surgery (n = 62), were entered into a randomized, open-label, assessor-blinded, multicentre study to compare 4% icodextrin with RLS. Treatments were coded in blocks of four with equal randomization to each group, and pre-allocated to consecutively numbered patients. At least 100 ml per 30 min was used for intra-operative lavage, with 1 l instilled post-operatively. Per protocol analysis included all eligible patients (n = 53); reformation analysis required one or more baseline adhesion (n = 42). Incidence, extent and severity of post-operative adhesions were assessed at second-look laparoscopy after 6-12 weeks. Procedures were video-taped for third party, blinded assessment. RESULTS: Safety and tolerability (laboratory variables, adverse events, clinical follow-up) were good with no difference between treatments. A shift analysis of incidence-ranked adhesions (n = 53) showed apparent improvements in more patients with icodextrin than RLS (37 versus 15%; not significant). Adhesion score reduction (n = 42) was more frequent in icodextrin- than RLS-treated patients: incidence (52 versus 32%), extent (52 versus 47%), and severity (65 versus 37%). Despite greater baseline adhesions, median reformation was less after icodextrin (24%) than RLS (60%). The pilot study group sizes were not powered for statistical significance. CONCLUSIONS: In this preliminary study, 4% icodextrin lavage plus instillation was well tolerated and reduced adhesion formation and reformation following laparoscopic gynaecological surgery. A Phase III pivotal study is currently in progress. 相似文献
56.
Sanfilippo NJ Hsi A DeNittis AS Ginsberg GG Kochman ML Friedberg JS Hahn SM 《Lasers in surgery and medicine》2001,28(3):278-281
BACKGROUND AND OBJECTIVE: To describe the toxicity of photodynamic therapy (PDT) in patients with carcinoma of the upper aerodigestive tract who received prior treatment with external beam irradiation and intraluminal brachytherapy (IB). STUDY DESIGN/MATERIALS AND METHODS: Hospital records of PDT patients were reviewed. Three patients who received prior treatment with external beam irradiation and IB were identified. Two patients had esophageal carcinoma treated with combined chemotherapy and external beam irradiation (55.8 and 50.4 Gy) followed by IB (12 Gy and 35 Gy at 1 cm). These patients then received PDT for treatment of recurrence (2 mg/kg Photofrin injection and 2 light applications: 630 nm, 150--200 J/cm, 200--400 mW/cm). One patient had non-small cell lung cancer treated with external beam irradiation (60 Gy) followed by IB (36.1 Gy at 1 cm) and then received PDT for recurrence (1 mg/kg Photofrin injection and one light application: 630 nm, 150 J/cm, 200 mW/cm). RESULTS: One patient with esophagus cancer had formation of a tracheoesophageal fistula, which required stent placement. The other esophageal cancer patient developed quadriplegia due to an epidural abscess arising from a fistula with the diseased portion of the esophagus. The lung cancer patient had massive hemoptysis after the procedure and died 2 days later. Autopsy showed necrotizing arteritis of the right pulmonary artery. CONCLUSION: Patients with upper aerodigestive tract carcinoma who have received treatment with both external beam irradiation and IB seem to be at higher risk for complications when treated with PDT. 相似文献
57.
Eblen AC Gercel-Taylor C Shields LB Sanfilippo JS Nakajima ST Taylor DD 《Fertility and sterility》2000,73(2):305-313
OBJECTIVE: To investigate the reactivity of maternal antibodies with endometrium-derived antigens and to correlate their association with recurrent pregnancy loss (RPL). DESIGN: Prevalence study. SETTING: Academic research center. PATIENT(S): Nulliparous women (n = 10), women with RPL (n = 15), pregnant women (n = 8), and multiparous women with a normal obstetric history (n = 20). INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Reactive antibodies were analyzed by Western immunoblot techniques and quantitated by densitometry. RESULT(S): Antibodies from women with RPL and multiparous women recognized antigens ranging from 10-120 kd on normal endometrium and endometrial tumors. Antibodies from most women with RPL (10/15) and from multiparous women (15/20) recognized 65-kd and 80-kd proteins in normal endometrium. Antibodies from women with RPL recognized 21-kd and 28-kd antigens (12/15 and 13/15, respectively) in endometrial tumors at a significantly greater rate (than did antibodies from multiparous women (5/20 and 8/20, respectively). Women with RPL had significantly lower levels of asymmetric IgG compared with controls. CONCLUSION(S): Recurrent pregnancy loss may be linked with the failure to elicit asymmetric IgG and a unique immunologic recognition of endometrial antigens. 相似文献
58.
NJ Hoogenraad JD Mitchell NA Don TM Sutherland AC Mc Leay 《Archives of disease in childhood》1980,55(4):292-295
The activity of urea cycle enzymes was assayed in duodenal biopsy specimens obtained from a female infant who presented with neonatal hyperammonaemia. All enzyme levels were normal except N-acetyl glutamate-dependent carbamyl phosphate synthetase 1 (CPS1) which was half the mean activity in normal control specimens. A similar deficiency of CPS1 was also shown in duodenal specimens from the patient's mother who became slightly symptomatic after relatively high protein meals and during pregnancy, and had spontaneously modified her diet to one with protein restriction. The patient is growing normally on a dietary regimen similar to that spontaneously adopted by her mother. Urea cycle enzyme activity in the duodenal biopsy material from the controls was similar to that found in the normal human liver and appears to have distinct advantages as a means of assaying for urea cycle defects in patients with hyperammonaemia and their relatives. 相似文献
59.
An unusual case of vulvar carcinoma in a gonadal dysgenesis patient is described. In addition to clinical manifestations, certain laboratory data related to endocrine status were gathered from serum and urine analyses. Finally, receptors for estrogens, progestins, and glucocorticoids were determined on biopsies of the vulvar carcinoma. 相似文献
60.
GM Durbin NJ Hunter N McIntosh EO Reynolds PD Wimberley 《Archives of disease in childhood》1976,51(3):163-169
A controlled trial of elective intervention with continuous inflating pressure (CIP) was performed in infants with severe hyaline membrane disease who weighed more than 1000 g at birth. Infants entered the trial if their arterial oxygen tension (PaO2) fell below 60 mmHg while breathing a fractional inspired oxygen concentration (F1O2) greater than 0-95. 11 out of 12 infants in the CIP-treated group and 10 out of 12 in the control group survived. 7 treated and 6 control infants required mechanical ventilation. When CIP was started the Pao2 of the treated infants increased, and they breathed high concentrations of oxygen for a significantly shorter period than the control infants. During the 31-month duration of the trial 107 other infants with severe hyaline membrane disease were admitted who did not meet the criteria for entry to the trial. 37 survived after breathing high concentrations of oxygen (F1O2 greater than 0-60) spontaneously without any ventilatory assistance, and the remaining 70 infants were already being ventilated on their arrival in the unit, usually because they had required mechanical ventilation during transfer from other hospitals. The neonatal survival rate for those infants born in this hospital during the study period was 88% (50 out of 57 infants) and for those referred from other hospitals it was 69% (51 out of 74 infants). The maximum further increase in overall survival rate that might have been achieved in our population of infants if CIP had been initiated very early in the course of the illness was 5%--i.e. from 77% (101/131) to 82% (107/131). 相似文献