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At least 487 records · Page 27Linked to original sources
PubMed1990

Beukes familial hip dysplasia: an autosomal dominant entity.

An unique inherited skeletal disorder had been identified in 47 patients in 6 generations of an Afrikaner family in Southern Africa. Pain develops in the hip joints in early childhood in the majority of affected persons and the course is progressive with severe crippling by early adulthood. General health is good, height is not significantly reduced, and there is no extra-skeletal involvement. The major changes are in the femoral capital epiphyses, which are severely flattened and irregular; secondary osteoarthrosis develops at an early age. Pedigree data indicate autosomal dominant inheritance with a reasonably consistent phenotypic expression. In view of the fact that only members of the Beukes family have been identified as suffering from the condition, the designation "Beukes familial hip dysplasia" (BFHD) is proposed.

Adolescent↗
PubMed1991

Wryneck in the ancient Hawaiians.

A unique cranial asymmetry previously noted in the skeletal remains from Mokapu, O'ahu, Hawai'i, is described. The anomaly involves an indentation of one or both of the occipital condyles and facial and vault asymmetry. This examination of the asymmetry includes a search for other reported occurrences, a detailed description, and a differential diagnosis. A multiple working hypothesis approach is employed. Comparison of the osseous material with the expected clinical pictures in craniosynostosis, Kleippel-Feil syndrome, primary basilar impression, and torticollis results in the most likely explanation of congenital torticollis. A high rate of occurrence of the anomaly (1.8%) is found in the skeletal remains from the Hawaiian Islands, but it has been documented in only two instances outside Hawai'i. A survey of patients seen at The Shriner's Hospital for Crippled Children does not reveal a high rate of occurrence of torticollis in Hawaiians relative to other ethnic groups.

Craniosynostoses↗
PubMed2002

The prevalence of narcolepsy among Chinese in Hong Kong.

Narcolepsy is a lifelong, crippling sleep disorder. Although the discovery of the hypocretin system has been a breakthough in genetics, the epidemiological aspects of narcolepsy remain elusive. Ethnic predisposition was suggested to partially account for the 2,500-fold difference in the reported prevalence rates of narcolepsy between Japanese (0.59%) and Israeli Jews (0.00023%). We carried out a general population study, conducting a random telephone survey with a structured questionnaire, which included a validated screening instrument (a Chinese version of the Ullanlinna Narcolepsy Scale). It was followed by clinical-polysomnographic-HLA confirmation of the subjects determined to be positive for narcolepsy based on the questionnaire. Of 9,851 subjects interviewed, 28 subjects (0.28%, 58% female) were screened positive. Ninety percent had a second detailed interview, 64% had HLA typing, and over half of them had a sleep assessment. Only three subjects were found to have genuine narcolepsy. The most common nonnarcolepsy diagnoses were sleep apnea syndrome and sleep-wake schedule disorder. The prevalence rate of narcolepsy in Southern (Hong Kong) Chinese was found to be 0.034% (95% confidence interval = 0.010-0.117%). All available narcoleptic subjects were HLA DRB1-1501 positive and 50% were DQB1-0602 positive. The prevalence rate of narcolepsy among Chinese is comparable to the rates for other populations in studies with stringent epidemiological designs, suggesting that major cross-ethnic differences in the prevalence rates of narcolepsy previously reported likely resulted from methodological limitations.

Adult↗
PubMed1988

Total duodenal diversion in the treatment of complicated peptic oesophagitis.

Total duodenal diversion (TDD) has been carried out in 59 patients with complicated forms of peptic oesophagitis (acquired short oesophagus, columnar lined oesophagus, previous oesophagogastric surgery, stenosis). A standard procedure (truncal vagotomy, antrectomy and gastrojejunal anatomosis using a 70 cm Roux-en-Y loop) was performed in 41 patients, and some technical adjustments were required in 18 patients previously operated on. One patient died from postoperative pulmonary embolism. Bowel movements were resumed before the fifth postoperative day in 93 per cent of patients (54/59). Early postoperative complications (gastroparesis, 5; fistula, 1; subsequent operation, 1) occurred in 12 per cent of patients. Stabilization of the oesophagitis was achieved in less than 3 months in 95 per cent of cases (55/58). There were two cases of regression of columnar lined oesophagus. A 3-h postprandial pH assessment showed that the reflux had been controlled in 92 per cent of cases (47/51). One patient who still had an acid reflux died subsequently of a perforated oesophageal ulcer. Three anastomotic ulcers occurred in eight patients who did not have vagotomy. Digestive side-effects have been observed in nine patients, but only in one case were they crippling. Our results suggest that TDD is a suitable form of treatment for complicated forms of peptic oesophagitis.

Adult↗
PubMed1992

Effective treatment of hypertension in patients with diabetes mellitus.

Atherosclerosis, presenting as macrovascular complications of diabetes mellitus, produces approximately 80% of all diabetic mortality, whether the patient has Type I insulin-dependent diabetes (IDDM) or Type II non-insulin dependent diabetes mellitus (NIDDM). Specifically, 75% of this atherosclerotic macrovascular mortality flows as the outcome of coronary atherosclerosis, which is increased approximately two-fold in men and four-fold in women with diabetes as compared with otherwise matched populations with entirely normal carbohydrate tolerance. The remaining 25% of this atherosclerotic mortality in patients with diabetes mellitus is the result either of accelerated cerebrovascular or of peripheral vascular complications of diabetes, both of which are increased four-fold and five-fold, respectively, in patients with diabetes mellitus, regardless of type. Furthermore, atherosclerosis is the principal cause of hospitalizations for patients with diabetes mellitus. Admissions for this complication account for approximately 77% of total hospitalizations for diabetes owing to complications. Aside from mortality data alone, atherosclerosis is obviously a leading cause of diabetic disability, since it produces patients who are chronic cardiovascular, peripheral or cerebrovascular cripples, perhaps for many years before their ultimate demise. Small blood vessel or microvascular complications of diabetes mellitus, while formerly thought to be the end-stage in the unfolding of the diabetic process, do not appear to have the potential for mortality as do the atherosclerotic large blood vessel complications.(ABSTRACT TRUNCATED AT 250 WORDS)

Adrenergic beta-Antagonists↗
PubMed1997

Diffuse large cell lymphomas are derived from mature B cells carrying V region genes with a high load of somatic mutation and evidence of selection for antibody expression.

In the Revised European American Lymphoma (REAL) classification, several subtypes of high-grade lymphomas were combined in the entity diffuse large cell lymphoma (DLL). In the present study, a total of 19 cases of DLL (10 cases of centroblastic lymphoma, 5 cases of mediastinal B cell lymphoma, 2 cases of immunoblastic lymphoma, 1 case of T cell-rich B lymphoma and one case of large cell anaplastic lymphoma) were analyzed for somatically mutated immunoglobulin V region genes. Somatic mutations are acquired in the course of the germinal center (GC) reaction and are thus found in GC B cells and their descendants, i.e. memory B cells. The V gene sequences revealed that the tumor cells of all five subtypes of DLL harbored mutated V region genes and are thus derived from antigen-experienced (post) GC B cells. This indicates that from the point of view of the stage of development of the tumor precursor, the combination of those five subtypes to one entity, i.e. DLL, seems reasonable. In some cases, an unusually high frequency of somatic mutations was detected. This may indicate that DLL are derived from GC B cells, which, due to transforming events, stayed in the GC for prolonged periods of time, thereby accumulating a high load of somatic mutation. An analysis of the mutation pattern suggests that the tumor clone or its precursor were selected for antibody expression while acquiring somatic mutations. The latter observation discriminates DLL from classical Hodgkin's disease, where we recently also observed a high load of somatic mutation within rearranged V region genes, but a frequent occurrence of crippling mutations.

Adult↗
PubMedDate not supplied

The surgical treatment of extratemporal facial paralysis: an overview.

At present there is no single surgical approach that is ideally suited to rehabilitation of the paralyzed face. Dynamic reconstruction and neural reconstitution are usually preferred to static methods, except under special circumstances. Experience with over 150 autogenous facial-nerve grafts using epineural suture technique has resulted in return of movement in 95% of properly selected patients. When grafting is not feasible, as in the obliterated central facial nerve, hypoglossal-facial-nerve crossover is a simple and powerful source of reinnervation, usually resulting in minimal intraoral crippling and mild mass movement. A newer procedure, the cross-face nerve graft, is an alternative to hypoglossal crossover, although it results in less axonal input and longer regenerative time. In cases of long-standing facial paralysis with muscle atrophy, temporalis and masseter transfers are dependable and may sometimes be combined with a nerve graft.

Cervical Plexus↗
PubMed2006

Analysis of immunoglobulin heavy and light chain variable genes in post-transplant lymphoproliferative disorders.

Post-transplant lymphoproliferative disorders (PTLD) derive from antigen-experienced B-cells and represent a major complication of solid organ transplantation. We characterized usage, mutation frequency and mutation pattern of immunoglobulin variable (IGV) gene rearrangements in 50 PTLD (polymorphic PTLD, n=10; diffuse large B-cell lymphoma, n=35; and Burkitt/Burkitt-like lymphoma, n=5). Among PTLD yielding clonal IGV amplimers, a functional IGV heavy chain (IGHV) rearrangement was found in 40/50 (80.0%) cases, whereas a potentially functional IGV light chain rearrangement was identified in 36/46 (78.3%) PTLD. By combining IGHV and IGV light chain rearrangements, 10/50 (20.0%) PTLD carried crippling mutations, precluding expression of a functional B-cell receptor (BCR). Immunohistochemistry showed detectable expression of IG light chains in only 18/43 (41.9%) PTLD. Failure to detect a functional IGV rearrangement associated with lack of IGV expression. Our data suggest that a large fraction of PTLD arise from germinal centre (GC)-experienced B-cells that display impaired BCR. Since a functional BCR is required for normal B-cell survival during GC transit, PTLD development may implicate rescue from apoptosis and expansion of B-cells that have failed the GC reaction. The high frequency of IGV loci inactivation appears to be a peculiar feature of PTLD among immunodeficiency-associated lymphoproliferations.

Apoptosis↗
PubMed2001

TP53 gene mutations in Hodgkin lymphoma are infrequent and not associated with absence of Epstein-Barr virus.

Reed-Sternberg (RS) cells, the neoplastic cells of Hodgkin lymphoma (HL) have clonal immunoglobulin gene rearrangements. The presence of somatic mutations suggests a germinal center origin, whereas the presence of crippling mutations suggests rescue of RS precursors from apoptosis by a transforming event. Epstein-Barr virus (EBV), which can be detected in 30-50% of HL cases, probably plays a role in this transforming event. The frequent presence of p53 protein expression in RS cells also suggests a role of the TP53 gene in this escape from apoptosis. Although mutations of the TP53 gene occur infrequently in RS cells, it has been suggested that in EBV-negative cases this gene mutation may be fundamental for the inhibition of apoptosis. In this study, we tested the hypothesis that there is an inverse correlation between the presence of TP53 gene mutations and the presence of EBV. In 21 of 67 cases EBV encoded small RNA (EBER)1-2 mRNAs were detected. Immunostaining for p53 protein revealed positivity in all 67 cases with variable percentages of positive cells and staining intensity. Screening for mutations in exons 5, 6, 7 and 8 of the TP53 gene in single RS cells obtained by laser microdissection from 26 HL specimens and 4 HL-derived cell lines revealed mutations in 2 of 15 EBV-positive cases and in 1 of 11 EBV-negative cases. Our results confirm the presence of infrequent (11.5%) TP53 gene mutations in HL and suggest that mutations of the TP53 gene are not correlated to the absence of EBV.

Gene Rearrangement↗
PubMed2005

In vitro EBV-infected subline of KMH2, derived from Hodgkin lymphoma, expresses only EBNA-1, while CD40 ligand and IL-4 induce LMP-1 but not EBNA-2.

In about 50% of classical Hodgkin lymphomas, the Hodgkin/Reed Sternberg (H/RS) cells carry Epstein-Barr virus (EBV). The viral gene expression in these cells is restricted to EBNA-1, EBERs, LMP-1 and LMP-2 (type II latency). The origin of H/RS cells was defined as crippled germinal center B cells that escaped apoptosis. In spite of numerous attempts, only few typical Hodgkin lymphoma (HL) lines have been established. This suggests that the cells require survival factors that they receive in the in vivo microenvironment. If EBV is expected to drive the cells for growth in culture, the absence of EBNA-2 may explain the incapacity of H/RS cells for in vitro proliferation. In EBV carrying B lymphocytes, functional EBNA-2 and LMP-1 proteins are required for in vitro growth. For analysis of the interaction between EBV and the H/RS cells, we infected the CD21-positive HL line KMH2 with the B958 and Akata viral strains. Only EBNA-1 expression was detected in a few cells in spite of the fact that all cells could be infected. Using a neomycin-resistance-tagged recombinant EBV strain (Akata-Neo) we established an EBV-positive subline that was carried on selective medium. In contrast to the type II EBV expression pattern of H/RS cells in vivo, the KMH2 EBV cells did not express LMP-1. The EBV expression pattern could be modified in this type I subline. LMP-1 could be induced by the histone deacetylase inhibitors TSA and n-butyrate, by 5-AzaC, a demethylating agent, and by phorbol ester. None of these treatments induced EBNA-2. Importantly, exposure to CD40 ligand and IL-4 induced LMP-1 without EBNA-2 expression and lytic replication. The KMH2 EBV cells expressed LMP-2A, but not LMP-2B mRNAs. This result is highly relevant for the type II expression pattern of H/RS cells in vivo, since these stimuli can be provided by the surrounding activated T lymphocytes.

Bacterial Outer Membrane Proteins↗
PubMed1976

Stimulation of transplanted 3-methylcholanthrene-induced sarcomas in mice by specific immune ahd by normal serum.

Serum from Bl x C3H mice carrying syngeneic, progressively growing, highly immunogenic 3-methylcholanthrene-induced tumors when admixed with the specific tumor and inoculated into immunologically crippled syngeneic recipients, stimulated growth as compared with serum from control normal mice. It appears that this acceleration of tumor growth is an immune effect since it is not present when a non-immunogenic (spontaneous tissue culture) tumor is used; and the active factor can be absorbed from the serum by the specific tumor but not by an immunologically unrelated tumor. Normal serum per se also stimulated tumor growth, but to a smaller extent.

Animals↗
PubMed1980

Design of an artificial skin. I. Basic design principles.

Individuals who suffer extensive loss of skin, commonly in fires, are acutely ill, in danger of succumbing either to massive infection of to severe fluid loss. Patients who survive these early threats must often cope with problems of rehabilitation arising from deep, disfiguring scars and crippling contractures. In this report we describe the physiocochemical, biochemical, and mechanical considerations that form the basis for two-stage design of a membrane useful as an experimental wound closure. Stage I of the design, applicable to short-term acute use, calls for a membrane which displaces efficiently air pockets from a carefully prepared woundbed, free of weak boundary layers, and maintains the moisture flux through the wound at an optimal level. Optimization of the surface energy, modulus of elasticity, energy to fracture and moisture permeability of the membrane are among the essential attributes of Stage I design. Stage 2 of the design, applicable to long-term, chronic use, focuses on a nonantigenic membrane which performs as a biodegradable template for synthesis of neodermal tissue. A survey of candidate materials suggests reasons for selection of a porous, crosslinked collagen-glycosaminoglycan coprecipitate as the chemical basis of an evolving design which was initiated 10 years ago. Over the past several years a set of membranes has been iteratively designed on this basis and has been used to cover satisfactorily large experimental full-thickness skin wounds in guinea pigs. Such membranes have effectively protected these wounds from infection and fluid loss for over 25 days without rejection and without requiring change or other invasive manipulation. When appropriately designed for the purpose, the membranes have also strongly retarded wound contraction and have become replaced by newly synthesized, stable connective tissue. Several rules relating the molecular structure and morphology of these membranes to cellular response of adjacent tissue have also been derived. This report is the first in a series which details the methodology of preparation and the record of performance.

Animals↗
PubMed1988

Molecular genetics and structure of the human immunodeficiency virus.

A novel human lymphotropic virus capable of crippling the immune system by infecting and destroying T4 antigen-positive cells is now known to be the etiologic agent of the acquired immune deficiency syndrome (AIDS). The AIDS or human immunodeficiency virus (HIV) belongs to a family of RNA viruses called retroviruses. Several strains of HIV have been molecularly cloned, and DNA sequence comparisons have established that the proviral DNA genome is 9.7 kilobase pairs. The genome possesses characteristic retrovirus features including structural genes, flanked by long terminal repeats, in the order gag, pol, and env and, in addition, four unique nonstructural genes, several of which appear to be essential in regulating virus replication. Electron microscopy has played an important role in elucidating structural, genetic, and molecular properties of HIV and has aided in its classification as a member of the Lentivirnae retrovirus subfamily. Heteroduplex mapping methodologies pertinent to these findings are described. Although the relationships show considerable divergence, the similarities between HIV and lentiviruses are profound and encompass an indistinguishable morphology, genome sequence homology and topography, genomic diversity, and overlapping biology, including a preference for infecting cells of the immune system, a cytopathic effect in vitro, and the ability to produce a persistent, slowly progressing, degenerative disease in vivo. The newest HIV class (HIV-2) has recently been molecularly characterized. HIV-2 also bears all the hallmarks of a lentivirus but is more closely related to simian immunodeficiency viruses than the previously described HIV-1, despite a similar biology. The HIV-lentivirus phylogenetic relationship has broad implications for the AIDS disease process and has given new importance to the study of the natural history and pathogenesis of animal lentiviruses in searching for clues to prevent the spread of AIDS.

Amino Acid Sequence↗
PubMed2002

How trematodes cause limb deformities in amphibians.

We used trematode cyst infestation to induce limb deformities in two species of frogs of the genus Rana and compared them to deformities induced by surgical limb bud rotations. The specific deformities produced by both treatments closely resemble those of wild-caught deformed amphibians and are consistent with a known developmental response to disruption of the spatial organization of cells in developing limb buds. Histological analysis showed that trematode cysts cause massive disruption and abnormal cellular growth involving the limb buds of infected individuals. Our results indicate that trematode cyst infestation causes deformities in frogs by perturbation of the positional relationships of cells in developing limb buds. The crippling effects of cyst-infection on frogs may reflect complex co-evolutionary interactions among trematodes, frogs, and other hosts in the trematode's life cycle.

Animals↗
PubMed1977

Acinic cell tumor of the palate.

A rare acinic cell carcinoma of the soft palate is reported and its potential for recurrence and metastasis discussed. A wide ablation created a speech-crippling defect that was reconstructed with an island flap from the opposite side and a pharyngeal flap for nasal lining and an island flap from the same side for oral cover. Speech is again normal.

Adult↗
PubMed1976

Microscopic antrostomies in children: a review of the literature in chronic sinusitis and a plan of medical and surgical treatment.

Potential complications, morbidity, treatment failures and "nasal cripples" make one cautious about advising radical sinus surgery. Though antibiotics have greatly reduced the need for radical surgery, some patients do not respond to conservative treatment. Reviewed is pertinent literature concerning treatment of chronic, refractory sinusitis in children, particularly intranasal antrostomy. Medical treatment for chronic sinusitis precedes surgical intervention. Allergic history, nasal cytology and radiographic examination are essential. Since principles of adequate surgical drainage and ventilation have long been established, controlled antrostomy procedure is done with the aid of the operating microscope, creating a nasal mucosal flap. A new instrument is presented---a self-retaining stabilized retractor speculum which allows adequate visualization with the microscope while protecting the mucosal flap and freeing both hands for the procedure.

Adenoidectomy↗
PubMed2006

Effect of deep brain subthalamic stimulation on camptocormia and postural abnormalities in idiopathic Parkinson's disease.

Camptocormia has been described in patients with idiopathic Parkinson's disease (PD). We present a patient with young-onset PD in whom the disease progressed over 25 years to a crippling state with severe camptocormia and bent knees. The camptocormia along with other parkinsonian symptoms improved dramatically after bilateral subthalamic deep brain stimulation.

Adult↗
PubMed2005

Downregulation of internal enhancer activity contributes to abnormally low immunoglobulin expression in the MedB-1 mediastinal B-cell lymphoma cell line.

Primary mediastinal B-cell lymphoma (PMBL) is a highly aggressive tumour with a unique pattern of clinical, morphological, immunological and genetic features distinct from other diffuse large B-cell lymphomas. PMBLs are characterized by a mature B-cell phenotype, but they typically lack immunoglobulin (Ig) gene expression. The PMBL cell line MedB-1 shares many characteristic properties of the primary tumour, including low-level Ig production despite a functionally rearranged IgVH gene and absence of 'crippling' mutations. In this study, a search was undertaken for reasons for downregulated Ig expression. Similar levels of the B-cell-specific transcription factors BOB.1/OBF.1 and PU.1 were found in MedB-1 cells to those in the Ig-producing UM-1 lymphoblastoid cell line. However, MedB-1 lacked the Oct2 transcription factor. Reporter assays showed that Ig-type promoters were active in MedB-1 cells. In contrast, activity of the intronic heavy chain enhancer was dramatically reduced. Ectopic expression of Oct2 was able partially to restore enhancer activity but transcription from the endogenous IgVH gene could not be rescued. Therefore, the role of epigenetic factors in the downregulation of Ig was investigated. Methylated histone 3 lysine 9, a reliable marker of chromatin silencing, was not detected in MedB-1 promoter and enhancer regions. Inhibition of DNA methyltransferase and of histone deacetylases also did not reactivate Ig production. These data suggest the existence of alternative mechanisms of Ig inhibition in MedB-1 cells, different from chromatin silencing and the lack of Oct2.

DNA Methylation↗