Rapadilino syndrome

We report on a boy with severe radial hypoplasia, absent thumbs and patellae, short stature, persistent diarrhea, slender nose and normal intelligence as another example of the RAPADILINO syndrome. © 1992 Wiley-Liss, Inc.     

Changes in the physiologic pattern of mitral prosthesis regurgitation in the presence of a prosthetic dysfunction]

AIM OF STUDY: Evaluation by transesophageal echocardiography of the effect on the characteristics of physiological regurgitant jets (JF) resulting from prosthetic disfunction due to pathologic regurgitation (JF). PATIENTS AND METHODS: We studied 69 consecutive patients with the diagnosis of prosthesis in mitral position using transesophageal echocardiography and color doppler codification. The patients were divided in two groups (N and D groups) according to the presence of prosthesis disfunction by pathologic regurgitation. In each patient we determined planimetric areas and atrial peak depth of each JF and also the sum of JF planimetric areas of each mitral prosthesis. When pathological regurgitation was present we calculated the highest planimetric area, severity degree and atrial peak depth in each JP. RESULTS: The planimetric area in each JF of group N was 330 +/- 167 mm2 and in group D 117 +/- 116 mm2 (p less than 0.001). The sum of the areas of JF in group N was 474 +/- 204 mm2 and in group D 254 +/- 176 mm2 (p less than 0.01). The atrial depth of JF in group was 32 +/- 15 mm and in group D 26 +/- 18 mm (p less than 0.01). In group D 29% of the patients had mild pathological regurgitation, 10% moderate and 61% severe. The maximum planimetric area of JP in group D was 1078 +/- 1007 mm2 with atrial depth of 37 +/- 28 mm. CONCLUSION: The pathological regurgitation in disfunction prosthesis in mitral position has a significant reduction effect in the dimension of prosthesis physiologic regurgitation jets. This transesophageal echocardiographic observation makes it possible to characterize and clarify more precisely the different types of mitral prosthesis jets.     

Is Preservation of the Adrenal Vein Mandatory in Laparoscopic Adrenal-Sparing Surgery?

BACKGROUND AND OBJECTIVE: Adrenal tissue-sparing or partial adrenalectomy evolved initially for patients with bilateral synchronous adrenal surgical pathology to preserve vital adrenal volume. In the laparoscopic era, the exact criteria for performing such procedures laparoscopically have yet to be defined. Controversy exists regarding the importance of preserving the adrenal vein, main or accessory. The aim of this retrospective study was to present our short series of laparoscopic tissue-sparing adrenalectomies with vein preservation. Our main goal is not to support partial adrenalectomy as an alternative to total (this is already advocated by many surgeons) but to emphasize the vein-preserving technique. METHODS: Seven patients with peripherally located either aldosterone-producing adenomas (4 cases) or myelolipomas (4 cases) underwent laparoscopic lateral partial adrenalectomy. One patient harbored an aldosterone-producing adenoma and a myelolipoma as well. The main adrenal vein was identified and preserved in 6 patients and the accessory vein in one. RESULTS: No conversion to open adrenalectomy was necessary, and no perioperative morbidity or mortality occurred. Three adenoma patients are normotensive 44, 23, and 20 months postoperatively, while the fourth one's pressure is refractory. CONCLUSIONS: Surprisingly, total adrenalectomies preceded the partial ones, which is controversial compared with other procedures. Laparoscopic lateral partial adrenalectomy is a technically challenging tissue-sparing operation. Meticulous dissection allows preservation of the middle artery and main or accessory vein resulting in a functioning adrenal stump.     

Participation of human epididymal sperm coating antigens in fertilization

A polyclonal antiserum directed against human sperm coating proteins of epididymal origin (anti-KCl) was tested for its ability to alter sperm function. Spermatozoa from normal ejaculates were selected by swim-up separation and capacitated by overnight incubation at room temperature. Exposure of these cells to anti-KCl (0.39 mg protein/ml), prior to their use in the hamster ova penetration test, reduced the penetration of denuded oocytes by 65% (P less than 0.005). Significant inhibitions of lesser magnitude were observed at lower serum concentrations (to 0.098 mg/ml). In an effort to understand the mechanism of this inhibition, other sperm function parameters thought to be related to oocyte penetration were studied. The inhibitory effect was exerted without noticeable changes in sperm motility (determined by the percentage of motile cells and their linear velocity), and in the absence of major sperm agglutination. Anti-KCl did not inhibit the occurrence of spontaneous or induced (by human follicular fluid) acrosome reaction in capacitated spermatozoa. In contrast, exposure to anti-KCl reduced the ability of capacitated spermatozoa to bind tightly to the hamster oolemma. None of these effects were elicited by a control preparation obtained from pre-immune rabbit sera. Exposure of zona-free oocytes to the antiserum did not alter their penetrability by normal sperm. These results suggest that the antigens recognized by anti-KCl participate in some specific step of the sperm-ovum interaction.     

Isolation and nucleotide sequence determination of a gene encoding a heat-stable enterotoxin of Escherichia coli.

A gene encoding a heat-stable enterotoxin (ST) from an Escherichia coli strain isolated from a human with diarrhea was cloned and characterized by nucleotide sequence analysis. The gene was found to be partially homologous to a previously characterized ST gene from an E. coli strain of bovine origin. Hybridization studies showed that most ST-producing strains of E. coli isolated from humans with diarrhea possess genes highly homologous to either the ST gene from the bovine strain or the ST gene characterized in the present study.     

Lymphoepithelioma-like carcinoma of the bladder: three cases with clinicopathological and p53 protein expression study

Lymphoepithelioma-like carcinoma of the bladder is an uncommon neoplasm, of which 49 cases have been described in the English literature, none of which has been studied for p53 protein expression. We studied three muscle-infiltrating cases of this tumor using immunohistochemical, in situ hybridization and polymerase chain reaction (PCR) methods. The three cases were positive for epithelial markers and negative for lymphoid antigens in the tumoral syncytial areas. The intensive infiltrate of small cells was negative for epithelial and positive for lymphoid markers. This population was mainly made up of cytotoxic T-lymphocytes, positive for TIA-1. p53 protein was intensely positive in more than 90% of the epithelial component nuclei, being negative in the lymphoid cells. PCR study did not show mutations on p53. Both lymphocytes and epithelium were negative for Epstein–Barr virus markers, such as the latent membrane protein and EBER (Epstein–Barr-encoded RNA). The prognosis was very good after radiotherapy and chemotherapy treatment, preserving the bladder despite the muscle infiltration. The presence of an intense cytotoxic T-lymphocyte population may be related to this good prognosis. Both aspects, p53 protein status and T-lymphoid population, had never been studied before in bladder lymphoepithelioma-like carcinoma.     

Nationwide surveillance program to identify diarrhea-causing Escherichia coli in children in Thailand.

Escherichia coli strains isolated from children with diarrhea were collected from 16 hospitals in different districts in Thailand during 1985 and 1986 and submitted to the National Reference Laboratory. Isolates were identified by serogrouping or as enterotoxigenic E. coli (ETEC), enteroinvasive E. coli (EIEC), enteropathogenic E. coli (EPEC) adhesin factor (EAF) E. coli, or Shiga-like-toxin (SLT)-producing E. coli by DNA hybridization. EPEC strains of known serogroups were isolated from 10%, ETEC strains were isolated from 6%, EAF E. coli strains were isolated from 4%, EIEC strains were isolated from less than 1%, and SLT-producing E. coli strains were isolated from none of 393 children with diarrhea. Among 278 children whose ages were recorded, the highest rate of isolation of EAF E. coli was 11% (9 of 85) from children less than 6 months old. ETEC was isolated from 5% (4 of 85) of children less than 6 months old, from 10% (12 of 118) of children 6 to 23 months old, and from 1% (1 of 75) of children greater than 23 months old. EPEC strains of known serogroups were isolated from 18% (15 of 85) of children less than 6 months old, from 11% (13 of 118) of children 6 to 23 months old, and from 9% (7 of 75) of children greater than 23 months old. E. coli strains that hybridized with the EIEC probe were isolated from three children who were 20, 36, and 48 months old. Examining E. coli for hybridization with DNA probes for virulence determinants is a practical way of conducting nationwide surveillance of diarrhea-causing E. coli. Since only 33% (13 of 39) of EPEC serogroups hybridized with the EAF probe and none hybridized with the SLT probes, identification of EPEC by serogroups analysis, followed by serotyping, should continue to be used in the identification of EPEC.     

Identification of enterotoxigenic Escherichia coli isolated from swine with diarrhea in Thailand by colony hybridization, using three enterotoxin gene probes.

The DNA colony hybridization assay was used to identify enterotoxigenic Escherichia coli among E. coli isolated from 803 swine with diarrhea at 10 farms in Thailand. Between 5 September and 8 December 1981, enterotoxigenic E. coli were identified in 40% of 58 litters of piglets under 10 days old and 17% of 29 litters between 10 and 21 days old with diarrhea at farms at four different locations in Thailand. All E. coli that hybridized with one or more of the three enterotoxin gene probes produced heat-labile or heat-stable toxin or both, as determined by testing culture supernatants in the Y1 adrenal and suckling mouse assays. The DNA colony hybridization technique is a specific method of identifying enterotoxigenic E. coli from swine and can be used to further characterize these enteric pathogens.     

Molecular characterization of Vibrio cholerae O1 strains isolated during cholera outbreaks in Guinea-Bissau.

In the present study, 19 strains of Vibrio cholerae O1 biotype El Tor isolated during outbreaks of cholera in Guinea-Bissau in 1987, 1994, and 1995 were characterized to investigate a possible epidemiological relationship among the isolates. On the basis of ribotyping with the restriction enzyme BglI, 5 strains isolated in 1987 showed two closely related ribotypes, while 14 strains isolated in 1994 and 1995 showed the same ribotype that was distinct from the ribotypes of strains isolated in 1987. Southern blot hybridization of BglI-digested genomic DNA with a cholera toxin probe demonstrated that the strains isolated in 1987 showed an identical cholera toxin genotype, whereas O1 strains isolated in 1994 and 1995 showed the same genotype that was distinct from the genotype of strains isolated in 1987. These results were supported by the results of antibiotic susceptibility testing, in which strains isolated in 1987 showed resistance to polymyxin B only, while each of the strains from 1994 and 1995 showed resistance to polymyxin B, trimethoprim-sulfamethoxazole, and the vibriostatic agent O/129. Although our results are based on a limited number of V. cholerae O1 strains, they suggest that the epidemic in Guinea-Bissau in 1994 and 1995 was due to the introduction of a new strain to the country.