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PubMed1987

Biochemical and genetic characterization of type I familial amyloidotic polyneuropathy.

Type I familial amyloidotic polyneuropathy is an autosomal dominant, inherited systemic amyloidosis characterized initially by dissociated sensory disturbance and autonomic dysfunction. The amyloid fibril protein seen in patients of Portuguese, Japanese, and Swedish descent in the U.S. mainly consists of a variant form of transthyretin (also called prealbumin) with the substitution of methionine for valine at position 30. Methods have been developed to detect this variant transthyretin in the serum, and to detect a base change in a mutated transthyretin gene. The biochemical and genetic abnormalities in transthyretin are completely linked to the clinical diagnosis of type I familial amyloidotic polyneuropathy. These diagnostic methods may allow early diagnosis and genetic counseling to avoid transmission of this intractable disorder to the next generation.

Amyloidosis↗
PubMedDate not supplied

The visual fields of American horseshoe crabs: two different eye shapes in Limulus polyphemus.

The optical alignment of individual cuticular cones in the dioptric array of the lateral eye of Limulus polyphemus was determined with a precision two-circle goniometer constructed and mounted to the stage of a compound microscope and using a new formaldehyde-induced fluorescence procedure. All measurements were made from the corneal surface of the excised eye mounted in seawater through an air/water interface perpendicular to the optic axis of the microscope. Our results revealed two variants of visual field and eye curvature which can actually be discriminated in casual examination of adult animals. We call animals possessing these two variants "morlocks" and "eloi." Adult male and female morlocks about 25 cm across the carapace have eyes which are relatively elongated, often darker in pigmentation, smaller, and relatively flatter in curvature. Morlocks have a monocular field of view of about 3.13 steradians or 50% of a hemisphere. The coverage averages 115 deg along the vertical axis and 168 deg along the horizontal axis of the eye, with maximum resolution in the anteroventral quadrant. Adult male and female eloi of comparable size have eyes which are relatively more round, often lighter in pigmentation, larger with more ommatidia, and relatively more bulged. Eloi have a monocular field of view of approximately 3.83 steradians or 61% of a hemisphere that covers 145 deg vertically and 185 deg horizontally. Eloi have more uniform resolution than morlocks with best resolution in the posteroventral quadrant. All horseshoe crabs examined, whether morlocks or eloi, have an identical orientation of the margin of the eye relative to the animals' coordinates.

Animals↗
PubMed1994

Gastric cancer.

Most countries with adequate statistical infrastructure have registered declines in gastric cancer mortality and incidence rates. Such a trend is dominated by the most frequent variant, namely the so-called intestinal type of adenocarcinoma, usually ulcerated and occupying predominantly the antrum and the antrum-corpus junction. This variant is considered the endstage of a prolonged precancerous process with gradual progression from (a) chronic active gastritis to (b) multifocal atrophic gastritis to (c) intestinal metaplasia, first resembling the phenotype of the small intestine and later that of the colon, to (d) dysplasia and (e) finally to invasive carcinoma. Major trends in dietary habits, namely lower intake of salt and increased and more frequent consumption of fresh fruits and vegetables, have been linked to the decline. In parallel with those trends, improved sanitation and more adequate housing may be responsible for the declining rates of infection with Helicobacter pylori, the major cause of chronic active gastritis. A decline in the frequency of papillary adenocarcinoma of the oxyntic mucosa, associated with the pernicious anaemia syndrome, appears to have taken place much earlier. Although the frequency of the pernicious anaemia syndrome seems to have remained at similar levels, its complications in terms of papillary adenocarcinoma have decreased in populations of northern European extraction. This may be related to time trends in dietary habits. The secular decline in diffuse carcinoma has been either of much less magnitude or non-existent. Few clues are available on this tumour variant. It is somewhat predominant in women, in subjects of blood group A phenotype, and less frequent in older subjects. Cell lines derived from diffuse carcinomas lack functional calcium dependent adhesion molecules ("cadherins"). Recent increases in incidence rates have been registered for adenocarcinoma of the gastric cardia. This increase parallels that of lower oesophageal adenocarcinoma, frequently linked with Barrett's oesophagus, reflux oesophagitis, a history of duodenal ulcer and gastric hypersecretion. New developments in molecular biology are being used to study the process of gastric carcinogenesis. There is hope that specific molecular alterations may provide better understanding of the different variants of gastric carcinoma and their secular trends.

Adenocarcinoma, Papillary↗
PubMed1996

Independent origin of single and double mutations in the human glucose 6-phosphate dehydrogenase gene.

The vast majority of both polymorphic and sporadic G6PD variants are due to single missense mutations. In the four polymorphic variants that have two point mutations, one of the mutations is always 376 A-->G (126 Asn-->Asp), which on its own gives rise to the nondeficient polymorphic variant, G6PD A. In a study of G6PD deficient patients who presented with clinical favism in Spain, we have found a new polymorphic variant that we have called G6PD Malaga, whose only abnormality is a 542 A-->T (181 Asp-->Val) mutation. This is the same mutation as previously found in association with the mutation of G6PD A in the double mutant, G6PD Santamaria. G6PD Malaga is associated with enzyme deficiency (class III), and the enzymic properties of G6PD Malaga and G6PD Santamaria are quite similar, indicating that in this case the effects of the two mutations are additive rather than synergistic. G6PD Santamaria might have been produced by recombination between G6PD A and G6PD Malaga; however haplotype analysis, including the use of a new silent polymorphism, suggests that the same 542 A-->T mutation has taken place independently in a G6PD B gene to give G6PD Malaga and in a G6PD A gene to give G6PD Santamaria. These findings help to outline the relationship and evolution of mutations in the human G6PD locus.

Amino Acid Sequence↗
PubMed1993

Small nucleolar RNAs encoded by introns of the human cell cycle regulatory gene RCC1.

Eukaryotic cells contain a large number of U small nuclear RNAs (U-snRNAs) involved in various RNA processing reactions in the nucleoplasm and nucleous. Most of the U-snRNAs have 5'-terminal caps added to the end of the primary transcript. Here we describe two variants of a snRNA, called U17, identified in human HeLa cells. U17 RNA may be involved in ribosome biogenesis since it is found in the nucleolus and sediments with 40S structures possibly representing nascent ribosomal subunits. U17 RNAs contain no cap but have a monophosphate at the 5'-terminus indicating that they are processed from longer precursors. The U17 RNAs are encoded within introns 1 and 2 of the single copy gene RCC1 which codes for an important cell cycle regulatory protein. In HeLa cell S-100 extract, U17 RNA is faithfully excised from a longer RNA transcript derived from the intron yielding 5'-monophosphorylated RNA. These data suggest that U17 RNAs are not independently transcribed but are processed out of the RCC1 pre-mRNA or out of the spliced introns.

Base Sequence↗
PubMed1997

Temporal selectivity of evoked vocal responses of Batrachyla antartandica (Amphibia: Leptodactylidae)

The advertisement call of the leptodactylid frog Batrachyla antartandica from southern Chile consists of a train of brief percussive tone pulses whose energy is centred at about 2 kHz. To gain an understanding of the temporal features that are essential for call recognition, playback experiments were conducted with 11 males. Subjects were presented with a synthetic imitation of this signal and variants for which different temporal call parameters were modified systematically. The number of pulses, pulse rate and latency of evoked vocal responses (EVRs) to stimuli having high pulse repetition rates (i.e. 8 and 16 pulses/s) were significantly weaker relative to responses to stimuli having an equal number of pulses but lower pulse rates. A similar, non-significant tendency was observed for a series of stimuli with different pulse rates for which the total stimulus duration was held constant. EVRs also decreased significantly for stimuli having long pulse durations (i.e. 48 and 96 ms) relative to stimuli comprising shorter pulses. No significant differences were observed between EVRs to stimuli for which pulse rise and fall times were varied from 1-20 ms. Responses to calls comprising trains of 10 pulses were weaker compared with stimuli having fewer pulses per train. The selective EVRs of B. antartandica for different temporal parameters contributes to an understanding of the mechanisms involved in call recognition and stress the relevance of temporal processing of sound by males for the emergence of specific patterns of vocal behaviour in anurans.Copyright 1997 The Association for the Study of Animal Behaviour1997The Association for the Study of Animal Behaviour

Journal Article↗
PubMed1987

Tolosa-Hunt syndrome versus recurrent cranial neuropathy. Report of two cases with a prolonged follow-up.

Two patients are described who had suffered for 12 years from episodes of painful ophthalmoplegia consistent with a Tolosa-Hunt syndrome (THS) alternating with palsies of cranial nerves other than the oculomotor (fifth motor and seventh on both sides). These two cases, as well as other similar ones previously reported in the literature, suggest that THS may sometimes be a variant of so-called recurrent cranial neuropathy, which is a benign and poorly understood clinical entity on an inflammatory or ischaemic basis.

Aged↗
PubMed1984

Analysis of the functional epitopes on different HLA-A2 molecules.

Recent studies show that the serologically defined HLA-A2 molecule can be subdivided according to functional and biochemical characteristics. By the use of various HLA-A2-specific cytotoxic T lymphocytes (CTLs) and isoelectric focusing, the serologically homogeneous HLA-A2 molecule can be divided into four subtypes. The polymorphism of the serologically defined HLA-A2 molecule has also been demonstrated by the use of HLA-A2-restricted CTLs. This study was designed to analyze the functional epitopes on different HLA-A2 molecules with special regard to the recognition patterns of different types of HLA-A2-restricted CTLs directed against minor histocompatibility (minor H) antigens. Fifteen so-called HLA-A2 variants belonging to distinct HLA-A2 subtypes were tested as target cells in the cell-mediated lympholysis (CML) assay against (1) HLA-A2-restricted antiminor H-Y CTLs, (2) HLA-A2 and -B7-restricted antiminor H-Y CTLs, and (3) HLA-A2, -Bw62 and -B27-restricted antiminor "HA" CTLs. We found that those three CTLs recognized only one of those HLA-A2 variants. Furthermore, positive reactions by the antiminor H CTLs were only observed on those variant cells which carried, in addition to the HLA-A2 variant, either another "normal" HLA-A2 molecule or another required restricting class I molecule necessary for associative recognition. These results indicate that the absence of HLA-A2 normal allotypic target determinant(s) leads to the loss of epitope(s) necessary for recognition of minor H-Y and minor "HA" transplantation antigens by HLA-restricted CTLs. We can conclude from the present study that HLA-A2-restricted antiminor H CTLs use, in general, the same epitope (or cluster of epitopes) for cellular recognition as alloimmune HLA-A2-specific CTLs.

Cytotoxicity, Immunologic↗
PubMed1988

The juxtaglomerular apparatus in Bartter's syndrome and related tubulopathies. An immunocytochemical and electron microscopic study.

A comparative immunocytochemical and electron microscopic study was performed on renal biopsies from two children with classical Bartter's syndrome (BS) and three children with a recently described variant, the so-called hyperprostaglandin E-syndrome (HES). Compared to age-matched controls, kidney specimens from patients with BS and HES disclosed a marked hypertrophy and hyperplasia of the juxtaglomerular apparatus (JGA). In addition, in HES focal tubular and interstitial calcifications accompanied by interstitial fibrosis and tubular atrophy were noted. On immunocytochemistry, chronic stimulation of the JGA in BS and HES was characterized by an increase in the number of renin-positive cells, particularly in the media of afferent arterioles, but also in efferent arterioles and in the glomerular stalk. The length of the renin-positive portion of the preglomerular arterioles was significantly increased when compared to controls (100 +/- 32 vs. 49 +/- 17 microns; p less than 0.001). In addition, the immunoreactivity of individual renin-positive cells was markedly enhanced. On electron microscopy, "hypertrophy" of the RER and of Golgi complexes with paracrystalline deposits in dilated RER cisterns and protogranules indicated an increased renin synthesis. Renin could be identified in mature secretory granules as well as protogranules by immune electron microscopy. Angiotensinogen was present in hypertrophied epithelial cells of Bowman's capsule. Converting-enzyme reactivity was observed in controls as well as in BS and HES in the brush border of the proximal tubule. In contrast to previous reports, Angiotensin II was completely negative in control as well as in diseased kidneys. We conclude from our results that both BS and HES are characterized by a marked activation of the JGA and severe stimulation of the renin-angiotensin system. Since activation of this system, however, leads--independently of the primary stimulus--to qualitatively very similar morphological reactions, these results do not implicate a common pathogenetic mechanism to both conditions.

Bartter Syndrome↗
PubMed1998

[Imaging of primary osteosarcoma].

Osteosarcoma is the most common primary malignant bone tumour with the exception of myeloma. The majority of osteosarcoma cases arise within bone and are called conventional osteosarcoma. Intraosseous variants include telangiectatic, small-cell, low-grade intraosseous and cortical osteosarcoma. Less than 10% of osteosarcomas arise on the surface of bone and are subdivided into periosteal, high-grade surface and parosteal varieties. The imaging features of these subtypes of osteosarcoma are described and the impact on diagnosis highlighted. Using material from over 750 osteosarcomas treated at the author's centre, this article reviews the role of imaging in the management of this condition. Detection still relies principally on the conventional radiograph with bone scintigraphy and MR imaging useful in occult tumours. Establishing the radiological diagnosis depends on careful analysis of the radiographs, with particular attention paid to the nature and extent of bone destruction, periosteal new bone formation and matrix mineralization. The prudent radiologist will be wary of those bone conditions, such as stress fractures and osteomyelitis, which are frequently mistaken for osteosarcoma. Appropriate surgical staging requires MR imaging of the primary tumour to show the bony and soft tissue extent of the lesion and to confirm/exclude skip metastases and local lymph-node involvement. Staging should also include bone scintigraphy to confirm/exclude multiple lesions and chest CT to confirm/exclude pulmonary metastases. Following definitive surgery, imaging is used in the follow-up to monitor potential local recurrence and the development of pulmonary or osseous metastases.

Bone Neoplasms↗
PubMed2002

MR imaging features of giant pre-sacral schwannomas: a report of four cases.

Benign giant sacral schwannoma is an uncommon cause of destruction of the sacrum. This report details four cases of a variant of this condition called giant presacral schwannoma (GPSS). On MR imaging the features are of a large, well-defined presacral soft tissue mass, arising just to one side of the midline with minor involvement of the bone. The typical MR features of a benign peripheral nerve sheath tumour are not seen. The tumours appear heterogeneous due to long-standing degeneration. Biopsy is advocated as the appearances of GPSS can be similar to a malignant peripheral nerve sheath tumour (malignant schwannoma).

Female↗
PubMed1982

Structural study of hemoglobin Knossos, beta 27 (B9) Ala leads to Ser. A new abnormal hemoglobin present as a silent beta-thalassemia.

A new electrophoretically silent hemoglobin variant is described that produces the classical phenotype of beta thalassemic intermedia in association with beta thalassemia trait. This variant has the expression of a silent beta thalassemia trait. The abnormal hemoglobin was detected by acid-urea-Triton-acrylamide electrophoresis and further demonstrated by isoelectric focusing. The amount of the variant in carrier is approximately 30% of the total hemoglobin. No instability was found. Absence of hemoglobin A in the propositus blood facilitated structural studies. Peptides maps were normal but analysis of individual peptide spots showed an Ala leads to Ser substitution in the beta T3. This variant has been previously called Hb Knossos (beta 27 (B9) Ala leads to Ser).

Amino Acids↗
PubMed1978

The papillary cystadenoma of minor salivary gland origin.

This article reviews the literature of the papillary cystadenoma of minor salivary gland origin and discusses and attempts to clarify the true nature of these lesions. The criteria for diagnosis are presented, and classification of this lesion based on the Histological Typing of Salivary Gland Tumours (World Health Organization) is suggested. In addition, an interesting variant, which we have called the papillary cystadenoma, mucous-cell type, is presented.

Aged↗
PubMed1986

Binocular depth mixture: an artefact of eye vergence?

Several studies by Foley et al. suggest that for particular stereoscopic stimulus conditions perceived depth depends on the luminance ratios of the stimuli. Perceived depth appears "shifted" in the direction of the most luminant stimulus. This finding has been interpreted as contradictory evidence against modern neuronal network or algorithmic models which are extensions or variants of so-called projection theories of stereopsis. The present study shows that this interpretation lacks a solid basis and that the apparent depth shift effect probably qualifies as an artefact caused by systematic fixation errors (fixation disparities). With a psychophysical methodology which aims at preventing the occurrence of systematic fixation errors no depth shift effect is found.

Adult↗
PubMed1986

Deficiency of myeloperoxidase and abnormal chromosome 1 occurs in variant (HL60) promyelocytes.

Maturation of normal polymorphonuclear neutrophils is characterized by successive periods of granule synthesis, a process which frequently is abnormal in leukemia. Recently, the human leukemic cell line HL60, displaying a promyelocytic phenotype, has been used to study granulocyte maturation. We describe a variant line of HL60, called HL60-A7, resulting from growth in actinomycin D, which contains atypical large azurophilic granules deficient in myeloperoxidase. The products of in-vitro translation of A7 RNA contained less than 5% of the immunoreactive MPO found in the parent line. Electrophoresis of plasma membrane polypeptides radioiodinated by the lactoperoxidase technique revealed several differences. Karyotypic analysis identified a consistent chromosome 1q+ abnormality which was not found in any of the parental cells examined. This constellation of differences between HL60 and HL60-A7, i.e. MPO deficiency, abnormal granule morphology, cell surface changes, and further cytogenetic abnormalities, may point to a common site sensitive to altered regulation in some leukemic promyelocytes.

Cells, Cultured↗
PubMed1990

Polymorphism of DRw52 and its association with DRw11 and DRw12 in South African blacks (Negroes) and individuals of mixed ancestry (Cape coloreds).

The HLA-DRB3 gene, which encodes the supertypic HLA-DRw52 antigen, has been shown to have limited polymorphism. The alleles at this locus are also in linkage disequilibrium with the alleles at the DRB1 locus. We have studied 16 DRw11 and three DRw12 haplotypes in the South African populations. Five of the DRw11,DQw7 haplotypes were associated with a TaqI restriction fragment length polymorphism which has not been previously described and which correlated with the DRB3 gene. This new variant, which has been called DRw52d, is confined to individuals of black or mixed ancestry. Two of the DRw11,DQw7 haplotypes were also associated with DRw52a or DRw52c and not with DRw52b as has always been observed in white populations. The less common DRw11,DQw6 haplotype, observed in four individuals, also revealed different allelic associations with the DRB3 gene, together with an unusual DQA association. None of the three DRw12,DQw7 haplotypes had the usual association with the DRw52b allele and also demonstrated two distinct DQA associations. The pattern of linkage disequilibrium of the HLA-D region loci in the South African black populations is more complex than in other populations. These findings may be of significance for the matching of unrelated donors for organ transplantation, as well as the study of disease association with HLA.

Alleles↗
PubMed1982

The phreno-pyloric syndrome in symptomatic gastroesophageal reflux.

Pathologic gastroesophageal reflux encountered during the neonatal period can be associated with projectile vomiting often of bile stained gastric content. Between 1960 and 1979, symptomatic gastroesophageal reflux was diagnosed in 36 neonates. Duodenogastroesophageal reflux was present in 16 or 44.4% of this group. This abnormal phenomenon is classically encountered in our experience during the neonatal period. The in-series incompetence of the pyloric and lower esophageal sphincteric mechanisms gives rise to a variant of the so called phreno-pyloric syndrome. The seriousness of this association is emphasized in our series by the high incidence of complications encountered in the patients with this syndrome, i.e., gastroesophageal bleeding in 44% esophagitis with stricture of formation in 12.5%. Conservative management of the cases encountered with this syndrome was successful except in two cases where reflux esophagitis was complicated by severe stricture formation. It is postulated that the pathogenesis of this form of phreno-pyloric syndrome is most probably based upon a motility disturbance of the upper gastrointestinal tract, involving the hormone motilin.

Esophagogastric Junction↗
PubMed1998

Molecular properties of the cGMP-gated channel of rod photoreceptors.

The cGMP-gated channel of the rod photoreceptor cell plays a key role in phototransduction by controlling the flow of Na+ and Ca2+ into the outer segment in response to light-induced changes in cGMP concentrations. The rod channel is composed of two homologous subunits designated as alpha and beta. Each subunit contains a core region of six putative membrane spanning segments, a cGMP binding domain, a voltage sensor-like motif and a pore region. In addition the beta-subunit contains an extended N-terminal region that is identical in sequence to a previously cloned retinal glutamic acid rich protein called GARP. Three spliced variants of GARP (the GARP part of the beta channel subunit; full length free GARP; and a truncated form of GARP) are expressed in rod cells and localized within the outer segments. Immunoaffinity chromatography has been used to purify the channel from detergent solubilized rod outer segments. A significant fraction of the rod Na+/Ca(2+)-K+ exchanger copurifies with the channel as measured by western blotting suggesting that the channel can interact with the exchanger under certain conditions.

Amino Acids↗