Is permanent congenital facial palsy caused by birth trauma?

OBJECTIVE: To study the relation between traumatic birth and the development of permanent facial palsy in the newborn. DESIGN: Retrospective case control study of children with 'congenital' facial palsy. SETTING: Two tertiary referral centres for patients with facial palsy. SUBJECTS: 61 children with established facial palsy. MAIN OUTCOME MEASURES: Odds ratios of recognised factors for birth injury: maternal primiparity, high birth weight, and the use of obstetric forceps at delivery. RESULTS: 13.2% of those studied had forceps assisted delivery compared to 10.2% in the normal population (odds ratio 1.34; 95% confidence intervals 0.61 to 2.97) 39.6% were born to primiparae compared to a national rate of 36.7% (1.13; 0.65 to 1.96) and only 18.9% weighed more than 3500 g at birth (0.37; 0.19 to 0.74). CONCLUSIONS: There is no association between the development of permanent 'congenital' facial palsy and recognised risk factors for birth injury. These data suggest an intrauterine rather than a traumatic aetiology.     

核磁共振法测定喃氟啶温度敏感性脂质体的相转变温度

用核磁共振法测定了喃氟啶温度敏感性脂质体的相转变温度。此法与经典的差热分析法不同,有灵敏度高、准确性好、提供信息全面等优点。用该法测得的DPPC-脂质体和DSPC-脂质体的相转变温度分别为36℃和48℃;DPPC-DSPC-脂质体的相转变温度与DPPC和DSPC的含量有关,随DPPC含量的增加而降低,随DSPC含量的增加而增加;药物的加入及含量不影响相转变温度。同时,制得可供临床前研究用相转变温度为41℃的喃氟啶温度敏感性脂质体。     

Nance-Horan syndrome: a contiguous gene syndrome involving detetion of the ametogenin gene? A case report and molecular analysis

DESIGN: A case of Nance-Horan syndrome in a male is presented, with some features of the condition in his carrier mother and her mother. It is proposed that Nance-Horan syndrome might be a contiguous gene syndrome mapping to chromosome Xp21.2–p22.3.
SETTING: The proband had congenital cataract micro-phthalmia and dental abnormalities including screwdriver shaped incisors and evidence of enamet pitting hypoplasia. The region Xp2I.2–p22.3 also contains the tooth enamet protein gene, ametogenin (AMGX).
RESULTS: Using molecular genetic techniques, we have shown that there is no evidence that the AMGX gene is deteted in this case of the Nance-Horan syndrome.     

Transrectal US as an adjunct in the diagnosis of rectal and extrarectal tumors

Transrectal ultrasound (US; also called endosonography) was used to evaluate known or suspected rectal and perirectal masses. Thirty-one patients were examined with commercially available endosonographic probes. Those who obtained and interpreted the sonograms had no knowledge of other diagnostic studies, which included digital rectal and sigmoidoscopic examinations, conventional US, and computed tomography (CT). All but one patient underwent surgical exploration for diagnoses that included rectal cancers, perirectal abscesses, presacral endometriosis, intramural dermoid of the rectum, and intramural venous angioma. Transrectal US was able to image all masses situated within 12 cm of the anus. Malignant infiltration of perirectal fat and perirectal node involvement were detected at least as accurately with US as with CT, suggesting that this technique is a cost-effective, reliable adjunct for staging rectal cancers.     

Palpable prostatic nodules: comparison of US and digital guidance for fine-needle aspiration biopsy

This study was undertaken to evaluate the use of transrectal sonographically guided fine-needle aspiration biopsy and to compare sonographic with digital guidance for biopsy. In 62 patients in whom prostatic carcinoma was suspected at digital rectal examination, fine-needle aspiration biopsies were performed transperineally under sonographic guidance and transrectally under digital guidance. These patients had 89 nodules, 73 of which were sampled with both techniques. Malignant cells were obtained under digital guidance in 17 of 73 nodules (23%) and under sonographic guidance in 16 (22%). An additional seven nodules, which were not seen sonographically, were sampled under digital guidance and proved to be negative. In nine other nodules that were nonpalpable and evident only with sonography, malignant cells were obtained under sonographic guidance in three. These findings indicate that sonographic guidance for fine-needle aspiration biopsy is as good as digital guidance for palpable lesions.     

Characterization of the clinical effects after the first dose of bacterially synthesized recombinant human granulocyte-macrophage colony- stimulating factor

Bacterially synthesized recombinant human granulocyte-macrophage colony- stimulating factor (rhGM-CSF) is an agent with therapeutic potential for neutropenic states, but even at doses below the maximal tolerated dose adverse effects occur during short courses of administration. We have recognized a syndrome of hypoxia and hypotension that follows the first but not subsequent doses of rhGM-CSF. Thirteen of 42 patients receiving rhGM-CSF in phase I studies and 4 of 6 patients in a phase II study developed a reaction that occurred after the first dose of 24 of 78 cycles of rhGM-CSF therapy. The reaction was characterized by flushing (16 of 24), tachycardia (16 of 24), hypotension (14 of 24), musculoskeletal pain (13 of 24), dyspnea (12 of 24), nausea and vomiting (11 of 24), rigors (5 of 24), involuntary leg spasms (3 of 24), and syncope (3 of 24). The reaction did not occur after any of more than 600 second and subsequent consecutive rhGM-CSF doses. Oxygen saturation decreased during first-dose reactions by 8% +/- 4% as compared with 3% +/- 1% on first days without reactions (P less than .001) and 2% +/- 1% on subsequent days (P less than .001). Pulmonary dysfunction was characterized by hypoxemia (59 +/- 9 mm Hg, mean +/- SD) that was fully correctable with supplementary oxygen, decreased single-breath carbon monoxide diffusion capacity, and increased alveolar-arterial oxygen gradients (25 +/- 6 to 60 +/- 4 mm Hg, mean +/- SD), but no significant abnormalities on chest roentgenogram or lung perfusion scan. Factors predisposing to reactions were rhGM-CSF dose greater than or equal to 3 micrograms/kg (P less than .01), intravenous (IV) rather than subcutaneous (SC) administration (P less than .05), occurrence of a reaction after the first dose of a previous cycle of rhGM-CSF therapy (P less than .01), and for patients receiving 15 micrograms/kg/d by SC bolus, the presence of lung cancer (P less than .05). Administration of 15 micrograms/kg/d rhGM-CSF by 24-hour SC infusion rather than SC bolus resulted in a delayed onset of reaction from 30 +/- 8 minutes to 240 +/- 190 minutes (mean +/- SD, P less than .001), and a slower rate of initial transient decrease in neutrophil levels and a more prolonged duration of transient leukopenia. The time of onset of reactions correlated with the rate of rise of rhGM-CSF levels.(ABSTRACT TRUNCATED AT 400 WORDS)     

Dermatan sulphate induces plasminogen activator release in the perfused rat hindquarters

Heparin or heparin-like substances have been described to induce the release of plasminogen activator (PA) activity in different animal perfusion models. In this paper we report that Dermatan Sulphate (DS) is able to induce PA activity release in the perfused rat hindquarters. Perfusion of different doses of DS (0.1 to 0.8 mg/mL) stimulates a release of PA activity that is maximum after the initial two minutes of perfusion. The amount of PA activity released rises progressively within a certain concentration range of DS (0.1 to 0.4 mg/mL) and declines thereafter (0.6 to 0.8 mg/mL). The type of PA activity increased during DS perfusion was characterized by SDS-PAGE and fibrin autography as tissue-type PA (t-PA) on the basis of its mol wt (67,000 d) and inhibition by a specific anti t-PA antiserum. This effect might be considered as potentially contributing to the antithrombotic activity of DS, at least at the local level.     

An analysis of fetal hemoglobin variation in sickle cell disease: the relative contributions of the X-linked factor, beta-globin haplotypes, alpha-globin gene number, gender, and age

Five factors have been shown to influence the 20-fold variation of fetal hemoglobin (Hb F) levels in sickle cell anemia (SS): age, sex, the alpha-globin gene number, beta-globin haplotypes, and an X-linked locus that regulates the production of Hb F-containing erythrocytes (F cells), ie, the F-cell production (FCP) locus. To determine the relative importance of these factors, we studied 257 Jamaican SS subjects from a Cohort group identified by newborn screening and from a Sib Pair study. Linear regression analyses showed that each variable, when analyzed alone, had a significant association with Hb F levels (P < .05). Multiple regression analysis, including all variables, showed that the FCP locus is the strongest predictor, accounting for 40% of Hb F variation. beta-Globin haplotypes, alpha-globin genes, and age accounted for less than 10% of the variation. The association between the beta-globin haplotypes and Hb F levels becomes apparent if the influence of the FCP locus is removed by analyzing only individuals with the same FCP phenotype. Thus, the FCP locus is the most important factor identified to date in determining Hb F levels. The variation within each FCP phenotype is modulated by factors associated with the three common beta-globin haplotypes and other as yet unidentified factor(s).