We report a case of Pallister-Killian syndrome in a term female infant. Antenatal ultrasound showed left diaphragmatic hernia and polyhydramnios. She was ventilated from birth and the diaphragm defect repaired on day 5. She had dysmorphic features, including median cleft palate, patchy frontotemporal alopecia, hypopigmented skin whorls, and bilateral profound sensorineural hearing loss. Fetal and postnatal karyotypes of peripheral lymphocytes were both normal, 46, XX. Subsequently, a skin fibroblast culture showed mosaic tetrasomy of isochromosome 12p both on G-banding and fluorescence in situ hybridization, consistent with Pallister-Killian syndrome. This case illustrates the importance of using the appropriate sample type for karyotype analysis with implications for prenatal and postnatal diagnosis.

Abnormalities, Multiple↗

PubMedDate not supplied

Programmed translational frameshifting is likely required for expressions of genes encoding putative nuclear protein kinases of the ciliate Euplotes octocarinatus.

Three macronuclear genes encoding putative nuclear protein kinases of the ciliate Euplotes octocarinatus syngen 1 were isolated and sequenced. All three deduced gene products share significant properties with a group of recently identified nuclear serine/threonine protein kinases named Ndr. The three predicted proteins contain the twelve conserved catalytic subdomains of protein kinases and 22 near universally-conserved amino acids residues that are characteristic of serine/threonine protein kinases. In addition, there is an approximately 30 amino acid-peptide insertion between subdomains VII and VIII that contains a potential nuclear localization signal. Sequence analysis suggests that expression of the Eondr2 gene requires a + 1 programmed translational frameshift for its translation. Comparison of the deduced EoNdr2 with other known Ndr protein kinases implies that a + 1 ribosomal frameshift occurs at the motif AAATAA.

Amino Acid Sequence↗

PubMedDate not supplied

Analysis of micronuclear, macronuclear and cDNA sequences encoding the regulatory subunit of cAMP-dependent protein kinase of Euplotes octocarinatus: evidence for a ribosomal frameshift.

We have isolated and characterized the micronuclear gene encoding the regulatory subunit of cAMP-dependent protein kinase of the ciliated protozoan Euplotes octocarinatus, as well as its macronuclear version and the corresponding cDNA. Analyses of the sequences revealed that the micronuclear gene contains one small 69-bp internal eliminated sequence (IES) that is removed during macronuclear development. The IES is located in the 5'-noncoding region of the micronuclear gene and is flanked by a pair of tetranucleotide 5'-TACA-3' direct repeats. The macronuclear DNA molecule carrying this gene is approximately 1400 bp long and is amplified to about 2000 copies per macronucleus. Sequence analysis suggests that the expression of this gene requires a +1 ribosomal frameshift. The deduced protein shares 31% identity with the cAMP-dependent protein kinase type I regulatory subunit of Homo sapiens, and 53% identity with the regulatory subunit R44 of one of the two cAMP-dependent protein kinases of Paramecium. In addition, it contains two highly conserved cAMP binding sites in the C-terminal domain. The putative autophosphorylation site ARTSV of the regulatory subunit of E. octocarinatus is similar to that of the regulatory subunit R44 of Paramecium but distinct from the consensus motif RRXSZ of other eukaryotic regulatory subunits of cAMP-dependent protein kinases.

Amino Acid Sequence↗

PubMedDate not supplied

Immunohistochemical evaluation of the probability of skin metastasis in gastric cancer.

We report the case of a 56-year-old man with advanced gastric cancer that manifested as multiple subcutaneous nodules. Histology showed irregularly shaped cells with large nuclei and it also showed frequent mitotic figures clustered throughout the dermis. To predict whether metastasis was likely to occur, we performed a controlled study using gastric cancer cells from patients with or without metastases. Tumor cells that had metastasized showed more positive staining for Ki67, PCNA and p53 than those that had not metastasized, although there were no marked differences between the reactivities of these 2 groups for factor VIII related antigen, CEA, EGF, or p21 staining. We conclude that immunohistochemical staining for Ki67, PCNA or p53 might be very useful in predicting the possible risk of metastasis of cancer cells.

Adenocarcinoma↗

PubMedDate not supplied

Comparison of STD prevalence and the behavioral correlates of STD among registered and unregistered female sex workers in Manila and Cebu City, Philippines.

Current STD control efforts are largely confined to female sex workers (FSWs) registered with the local Social Hygiene Clinics. This study was conducted to compare the prevalence of gonococcal and chlamydial infections and its behavioral correlates among registered FSWs in two major urban centers. FSWs in Manila and Cebu City consented to undergo an STD physical examination and standardized interview to measure socioeconomic markers and STD-related practices. The questionnaire was pretested in a series of four focus groups in Manila and subsequently administered in Tagalog and Cebuano by trained interviewers. Infection with N. gonorrhea was determined by culture and infection with C. trachomatis was defined by antigen detection. From July through September 1994 similar numbers of women were recruited in Manila (n = 311) and Cebu City (n = 300). However, thanks to the abilities of an interviewer who was previously a FSW, Cebu City was more successful at recruiting unregistered FSWs (50%) than was Manila (18%). The gonorrhea prevalence was 5 times greater among unregistered FSWs (70/185 or 37.8%) than registered FSWs (29/403 or 7.2%) (p 0.05). Prevalence of chlamydial infection was 2 times greater among unregistered FSWs (30.5%) than among registered ones (14.6%) (p 0.05). Unregistered FSWs reported fewer years working as a FSW, more partners in the prior week, and less current use of contraceptives (p 0.05). Rates of antibiotic use in the last week and douching in the last 24 hours were similar between the two groups. This study shows that unregistered FSWs are at a higher risk for acquiring and transmitting STDs, including HIV infection, than registered FSWs. There is an urgent need to implement interventions to reach this vulnerable group of women.

Asia↗

PubMedDate not supplied

"Tuli or not tuli".

Explore the source record for details and available documents.

Adolescent↗

PubMedDate not supplied

Effect of catheter composition on sperm quality.

Bladder catheterization for collection of retrograde ejaculates is commonly practiced, although previous studies have shown that materials used in the manufacture of the catheters may be toxic to sperm. Potential toxicity is particularly relevant to electroejaculation, as sperm from anejaculatory individuals undergoing this procedure characteristically exhibit poor motility and viability. To determine the effect of short-term exposure to various catheter materials on sperm quality, donor semen was diluted with BWW medium and aliquots incubated for 1 and 5 minutes with segments of four different catheters. The catheters were composed of latex, silicone rubber, polytetrafluoroethylene (Teflon), and radio-opaque Teflon, respectively. Following incubation, eosin-nigrosin staining for viability was performed and sperm motility assessed using computer-assisted sperm analysis (Cellsoft, Cryo Resources, Ltd). In the second phase of the study, donor semen was incubated with catheter segments coated with 0.3 ml of a water-soluble, nontoxic lubricant (Cellulosagel, Lederle) to evaluate whether the combination adversely affects sperm. Percent motility and viability for the semen specimens incubated with the four catheters alone did not differ significantly from control values either at 1 or at 5 minutes (P = 0.3, motility; P = 0.6, viability). The addition of lubricant did not change the catheter data significantly, indicating the absence of independent or synergistic toxicity (P = 0.5, motility; P = 0.4, viability). This study provides substantial evidence that brief exposure to conventional catheters, with or without a nontoxic lubricant, does not adversely affect sperm motility or viability.(ABSTRACT TRUNCATED AT 250 WORDS)

Catheters, Indwelling↗