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At least 487 records · Page 27Linked to original sources
PubMed1985

Long-term follow-up of infants and children treated with extracorporeal membrane oxygenation (ECMO): a preliminary report.

Extracorporeal Membrane Oxygenation (ECMO) has been used clinically as a life-saving treatment modality in infants and children who are dying of respiratory insufficiency. From 1973 to 1980 47 children less than 10 years of age were treated in a study to determine the feasibility and effectiveness of ECMO in the pediatric population. Despite a predicted mortality of 90% or greater, 24 patients survived. Eighteen of those patients have been seen in long-term follow-up. Thirteen patients (72%) demonstrate basically normal growth and development. Five patients (28%) have definite handicaps which are severe in two. Despite ligation of one common carotid artery and systemic heparinization, the risk of intracranial hemorrhage and/or neurodevelopmental problems appears to be no higher in this ECMO group and may even be lower than in the high-risk population treated with conventional therapy. The incidence of chronic respiratory problems, especially bronchopulmonary dysplasia, is zero in this group of patients. Only one patient (4%) has a defect that lateralizes to the right hemisphere which may have been affected by ligation of the carotid artery. Further study is required; however, it appears that ECMO offers life-saving intervention without increasing morbidity in select children with severe respiratory insufficiency.

Adolescent↗
PubMed1998

Cerebral aneurysm associated with von Recklinghausen's neurofibromatosis: a case report.

BACKGROUND: von Recklinghausen's neurofibromatosis is a hereditary disease that may affect any organ or system of the body primarily or secondarily, including the vascular system. Among the rare cerebrovascular abnormalities, the most common is stenosis or occlusion of the cerebral artery. Intracranial aneurysms are uncommon. CASE DESCRIPTION: A case of an intracranial cerebral aneurysm associated with von Recklinghausen's neurofibromatosis is reported. A 55-year-old woman presented with a history of intermittent headache for 2 months and right oculomotor nerve palsy for 1 month. Widespread cutaneous neurofibromas and angiomas were found over her trunk and limbs with prominent cafe-au-lait spots. X-ray showed that her left lung was compressed by a large mass in the left chest with rib defects and lateral spinal curvature. Right internal carotid angiography revealed a saccular aneurysm between C1 and C2. Craniotomy to clip the aneurysm could not be performed because the mass in her chest made intubation for general anaesthesia almost impossible. CONCLUSION: The clinical features of this case are discussed together with a review of 15 similar cases in the literature. There are different theories about this disorder. We agree that the malformations are derived not only from ectodermal, but also from mesodermal pathology. In terms of our case, we consider the progression of this disease to be slow.

Cerebral Angiography↗
PubMed1976

Purulent osteomyelitis of the cervical spine with epidural abscess. Operative treatment by means of dorsal and ventral approach.

The present case concerns an acute purulent osteomyelitis with an epidural abscess, located particularly in the intervertebral foramen between C5 and C6, which led to infection by staphylococci of the adjacent vertebral arches and vertebral bodies. An obstruction of the CSF passage was discovered by myelography at the level between C5 and C6. The bony tissue changed by inflammation was removed as far as possible by laminectomy. After irrigation of the epidural space with antibiotics and after control of the severe inflammation, the vertebral bodies C6 and C7 which were destroyed by the spreading inflammatory granulations, could be removed by a ventral approach 4 weeks later. The defect was filled with spongiosa chips. After immobilisation in a plaster shell and Crutchfield extension for 8 weeks the patient was slowly mobilized. A fusion of the vertebral bodies C5 and C6, C6/C7 and C7/C1 was achieved. A dislocation of the cervical spine did not occur and the patient recovered completely except for a paresis of the right hand. Treatment of this very rare and severe case was only possible by a combined dorsal and ventral procedure on the cervical spine.

Abscess↗
PubMed2001

Repression of XMyoD expression and myogenesis by Xhairy-1 in Xenopus early embryo.

Activated Notch-Delta signalling was shown to inhibit myogenesis, but whether and how it regulates myogenic gene expression is not clear. We analyzed the implication of Xenopus hairy-1 (Xhairy-1), a member of the hairy and enhancer-of-split (E(spl)) family that may function as nuclear effector of Notch signalling pathway, in regulating XMyoD gene expression at the initial step of myogenesis. Xhairy-1 transcripts are expressed soon after mid-blastula transition and exhibits overlapping expression with Notch pathway genes such as Delta-1 in the posterior somitic mesoderm. We show that overexpression of Xhairy-1 blocks the expression of XMyoD in early gastrula ectodermal cells treated with the mesoderm-inducing factor activin, and in the mesoderm tissues of early embryos. It inhibits myogenesis and produces trunk defects at later stages. Xhairy-1 also inhibits the expression of the pan-mesodermal marker Xbra, but expression of other early mesoderm markers such as goosecoid and chordin is not affected. These effects require the basic helix-loop-helix (bHLH) domain, as well as a synergy between the central Orange domain and the C-terminus WRPW-Groucho-interacting domain. Furthermore, overexpression in ectodermal cells of Xhairy-1/VP16, in which Xhairy-1 repressor domain is replaced by the activator domain of the viral protein VP16, induces the expression of XMyoD in the absence of protein synthesis. Interestingly, Xhairy-1/VP16 does not induce the expression of Xbra and XMyf5 in the same condition. During neurulation, the expression of XMyoD induced by Xhairy-1/VP16 declines and the expression of muscle actin gene was never detected. These results suggest that Notch signalling through hairy-related genes may specifically regulate XMyoD expression at the initial step of myogenesis in vertebrates.

Animals↗
PubMed2004

Trocar-assisted sling suspension for stress urinary incontinence: three-year follow-up.

STUDY OBJECTIVE: To evaluate 3-year outcomes of trocar-assisted sling suspension (TASS) for genuine stress incontinence. DESIGN: Retrospective review (Canadian Task Force classification II-2). SETTING: University-based, tertiary-level center for endoscopic surgery. PATIENTS: One hundred forty women with genuine stress incontinence with bladder neck hypermobility. INTERVENTION: After standard surgery preparation and general endotracheal anesthesia, TASS was performed. The periurethral space and thicker parts of the pubocervical fascia were opened from the vagina. A 0.5-cm incision was made on both sides of the lower abdomen and was measured 4-cm lateral to the linea album and 2-3-cm above the pubic bone. A trocar was used to penetrate the incision site to the space of Retzius. A 2-cm x 30-cm folded polypropylene mesh was placed inside the vagina and was then pulled out of the trocar sheath by a laparoscopic forceps. MEASUREMENTS AND MAIN RESULTS: All patients completed the procedures without exception. The average blood loss was less than 50 mL (range 10-200 mL). The operative time ranged from 20 to 90 minutes with a mean time of 32 +/- 12 minutes. Eleven patients had voiding difficulty. Six of them voided well after intermittent self-catheterization performed 28 days postoperatively. Seven patients had poor healing of the anterior vaginal wall; therefore, removal of mesh and wound repair were performed. One patient suffered from a retroperitoneal hematoma, and one patient had an intraoperative bladder injury. The overall complication rate was 14.3%. During 12-36 months of follow-up, 134 of 140 patients (95.7%) were satisfied with the surgery. CONCLUSIONS: Based on the results of our pilot study, TASS is quite feasible as a method of treatment for stress urinary incontinence. The surgery is not difficult to perform when compared with Burch colposuspension. Moreover, it encompasses the simplicity and effectiveness of tension-free vaginal tape surgery. In addition, TASS also can correct lateral wall defects such as cystocele.

Adult↗
PubMed1995

Diffuse and localised visual field defects to automated perimetry in primary open angle glaucoma.

The occurrence of generalised or diffuse visual field depression in primary open angle glaucoma (POAG), in contrast to the presence of characteristic localised defects, is controversial. The frequency of diffuse visual field loss to automated static perimetry in the early stages of POAG was determined and compared with the frequency of localised defects. Twenty-five eyes of 25 consecutive POAG patients who met the selection criteria were tested on the Humphrey Visual Field Analyser with the Central 30-2 Threshold Test. Patients' mean age was 68 years. All eyes had visual acuity better than 6/9 with correction, refractive error of less than +/- 7 dioptres, no media opacities and normal pupils (3-6 mm). For all eyes, the frequency of abnormality on the STATPAC Total Deviation (TD) and Pattern Deviation (PD) plots were determined for all individual test points. Mean values and standard deviations were compared. The TD plots represent a composite of both diffuse and localised visual field depression, while PD plots are intended to reflect localised field defects. The frequency of involvement of the test points on the TD plots was higher than on the PD plots (mean +/- SD: 41.5 +/- 11.2% vs 27.5 +/- 10.9%) for all presenting defects. When only deep defects (STATPAC p < 1% and p < 0.5%) were evaluated, TD involvement was still more frequent than the PD (20.1 +/- 9.4% vs 13.2 +/- 7.2%). The topographical pointwise incidence of pure generalised sensitivity loss in the visual field was less frequent when only deep defects were taken into consideration (6.9 +/- 5.7%), and the incidence increased progressively with the inclusion of intermediate and shallow field defects (9.6 +/- 6.8% and 14.0 +/- 8.4% respectively). A component of diffuse sensitivity depression is present at all significant levels of visual field loss in glaucoma. This component of generalised loss decreases as the depth of the field defects increases. This finding suggests that early diffuse field loss converts into well-defined pattern defects at later stages.

Adult↗
PubMed2003

ILR2, a novel gene regulating IAA conjugate sensitivity and metal transport in Arabidopsis thaliana.

Plants can regulate levels of the auxin indole-3-acetic acid (IAA) by conjugation to amino acids or sugars, and subsequent hydrolysis of these conjugates to release active IAA. These less active auxin conjugates constitute the majority of IAA in plants. We isolated the Arabidopsis ilr2-1 mutant as a recessive IAA-leucine resistant mutant that retains wild-type sensitivity to free IAA. ilr2-1 is also defective in lateral root formation and primary root elongation. In addition, ilr2-1 is resistant to manganese- and cobalt-mediated inhibition of root elongation, and microsomal preparations from the ilr2-1 mutant exhibit enhanced ATP-dependent manganese transport. We used a map-based positional approach to clone the ILR2 gene, which encodes a novel protein with no predicted membrane-spanning domains that is polymorphic among Arabidopsis accessions. Our results demonstrate that ILR2 modulates a metal transporter, providing a novel link between auxin conjugate metabolism and metal homeostasis.

Amino Acid Sequence↗
PubMed2003

Müllerian anomalies.

The reproductive organs in both males and females consist of gonads, internal ductal structures, and external genitalia. Normal sexual differentiation is dependent on the genetic sex determined by the presence or absence of the Y chromosome at fertilization. Testes develop under the influence of the Y chromosome and ovaries develop when no Y chromosome is present. In the absence of testes and their normal hormonal products, sexual differentiation proceeds along the female pathway, resulting in a normal female phenotype. Anatomic gynecologic anomalies occur when there is failure of normal embryologic ductal development. These anomalies include congenital absence of the vagina as well as defects in lateral and vertical fusion of the Müllerian ducts. Treatment of müllerian anomalies begins with the correct identification of the anomaly and an understanding of the embryologic origin. This includes evaluation for other associated anomalies such as renal or skeletal abnormalities. After correct identification, treatment options include nonsurgical as well as surgical intervention. This chapter serves to review the embryology and development of the reproductive system and to describe common genital tract anomalies. Details of surgical or nonsurgical correction of these anomalies are presented.

Female↗
PubMed2004

The evolution of transmembrane helix kinks and the structural diversity of G protein-coupled receptors.

One of the hallmarks of membrane protein structure is the high frequency of transmembrane helix kinks, which commonly occur at proline residues. Because the proline side chain usually precludes normal helix geometry, it is reasonable to expect that proline residues generate these kinks. We observe, however, that the three prolines in bacteriorhodopsin transmembrane helices can be changed to alanine with little structural consequences. This finding leads to a conundrum: if proline is not required for helix bending, why are prolines commonly present at bends in transmembrane helices? We propose an evolutionary hypothesis in which a mutation to proline initially induces the kink. The resulting packing defects are later repaired by further mutation, thereby locking the kink in the structure. Thus, most prolines in extant proteins can be removed without major structural consequences. We further propose that nonproline kinks are places where vestigial prolines were later removed during evolution. Consistent with this hypothesis, at 14 of 17 nonproline kinks in membrane proteins of known structure, we find prolines in homologous sequences. Our analysis allows us to predict kink positions with >90% reliability. Kink prediction indicates that different G protein-coupled receptor proteins have different kink patterns and therefore different structures.

GTP-Binding Proteins↗
PubMed2004

Evidence for defective energy homeostasis in amyotrophic lateral sclerosis: benefit of a high-energy diet in a transgenic mouse model.

Amyotrophic lateral sclerosis (ALS) is an adult-onset neurodegenerative disease characterized by selective loss of motor neurons and progressive muscle wasting. Growing evidence indicates that mitochondrial dysfunction, not only occurring in motor neurons but also in skeletal muscle, may play a crucial role in the pathogenesis. In this regard, the life expectancy of the ALS G93A mouse line is extended by creatine, an intracellular energy shuttle that ameliorates muscle function. Moreover, a population of patients with sporadic ALS exhibits a generalized hypermetabolic state of as yet unknown origin. Altogether, these findings led us to explore whether alterations in energy homeostasis may contribute to the disease process. Here, we show important variations in a number of metabolic indicators in transgenic ALS mice, which in all shows a metabolic deficit. These alterations were accompanied early in the asymptomatic phase of the disease by reduced adipose tissue accumulation, increased energy expenditure, and concomitant skeletal muscle hypermetabolism. Compensating this energetic imbalance with a highly energetic diet extended mean survival by 20%. In conclusion, we suggest that hypermetabolism, mainly of muscular origin, may represent by itself an additional driven force involved in increasing motor neuron vulnerability.

Amino Acid Substitution↗
PubMed2003

Use of Sindbis virus-mediated RNA interference to demonstrate a conserved role of Broad-Complex in insect metamorphosis.

The transcription factor Broad-Complex (BR-C) is required for differentiation of adult structures as well as for the programmed death of obsolete larval organs during metamorphosis of the fruit fly Drosophila melanogaster. Whether BR-C has a similar role in other holometabolous insects could not be proven without a loss-of-function genetic test, performed in a non-drosophilid species. Here we use a recombinant Sindbis virus as a tool to silence BR-C expression in the silkmoth Bombyx mori. The virus expressing a BR-C antisense RNA fragment reduced endogenous BR-C mRNA levels in infected tissues (adult wing and leg primordia) via RNA interference (RNAi). The RNAi knock-down of BR-C resulted in the failure of animals to complete the larval-pupal transition or in later morphogenetic defects, including differentiation of adult compound eyes, legs, and wings from their larval progenitors. BR-C RNAi also perturbed the programmed cell death of larval silk glands. These developmental defects correspond to loss-of-function phenotypes of BR-C Drosophila mutants in both the morphogenetic and degenerative aspects, suggesting that the critical role of BR-C in metamorphosis is evolutionarily conserved. We also demonstrate that the Sindbis virus is a useful vehicle for silencing of developmental genes in new insect models.

Animals↗
PubMed2003

The biceps femoris short head muscle flap: an experimental anatomical study.

The vascular communication between the heads of the biceps femoris muscle has been established after 25 cadaveric dissections. Perfusions of dye through the long or the short head consistently showed 1-2 anastomotic bundles. Outflow of dye opposite to the site of the perfused head was remarkable in most cases. Intramuscular dissections disclosed broad and well structured vascular networks in all short heads, but this was not true for all long heads. Our observations suggest that the anastomotic vessels alone might support the short head which, when released from its profunda femoris vessels, is adequate to cover lateral knee defects. Depending on the level of the anastomotic vessels, the proximal or the distal part of the short head should be used. A pedicled flap may be used as well, whereas transsection of the biceps tendon offers additional mobility.

Dissection↗
PubMed2003

The Aspergillus nidulans swoC1 mutant shows defects in growth and development.

Previous work identified swoC1 as a single-gene mutant with defects in polarity establishment. In this study swoC1 was shown to have defects in endocytosis, compartmentation, nuclear distribution, and conidiation. Temperature-shift experiments showed that the swoC1 mutant establishes multiple random sites of germ tube emergence. Surprisingly, these experiments also showed that even a slight delay in polarity establishment causes defects in later vegetative growth and asexual reproduction. The swoC gene was mapped to the centromere of chromosome III and cloned by complementation of the temperature-sensitive phenotype. The predicted SwoCp is homologous to rRNA pseudouridine synthases of yeast (Cbf5p) and humans (Dkc1p). However, neither rRNA pseudouridine synthesis nor rRNA processing appears to be affected in the swoC1 mutant. The swoC1 mutation occurs in the putative RNA-binding domain upstream of the C terminus, leaving the N-terminal TRUB catalytic domain intact. Interestingly, while deletion of the swoC gene was lethal in A. nidulans, the C terminus, including NLS, microtubule-binding, and coiled-coil domains, was dispensable for growth. SwoCp likely plays an important role in polar growth and nuclear distribution in A. nidulans, functions not yet described for its homologs.

Amino Acid Sequence↗
PubMed1994

Operative treatment of the rheumatoid shoulder.

Rheumatoid arthritis can affect almost any joint. Shoulder involvement typically occurs late in the disease process and usually after other joints have manifested arthritic change. Any of the four shoulder articulations can be involved: scapulothoracic, acromioclavicular, sternoclavicular, and glenohumeral. In addition to bony involvement, many of the soft tissues of the shoulder joint can be affected. Early operative treatment includes synovectomy with or without bursectomy, which is indicated prior to radiographic evidence of arthritis. Early synovectomy provides for a slowing of the progression of the disease process. Patients who have incapacitating pain with loss of range of motion can benefit from total shoulder replacement. Most patients experience pain relief and some restoration of motion. The restoration of normal range of motion is dependent on anatomic reconstruction of the glenohumeral joint. Factors that can affect the range of motion include rotator cuff tears and the general health status and motivation of the patient. Although there is a 30% to 80% incidence of radiographic lucencies with nonconstrained prostheses, their presence does not indicate the need for revision surgery. Occasionally, there is medialization of the glenohumeral joint with central bony losses of the glenoid. The surgeon should try to bone graft the defect and lateralize the components. If there is massive medialization of the glenoid that is not reconstructable, then a hemiarthroplasty is the procedure of choice.

Arthritis, Rheumatoid↗
PubMed1986

Splenectomy for splenic metastasis from carcinoma of colon.

An 81-year-old woman with carcinoma of the colon had a normal liver-spleen radiocolloid image at the time of surgery. Two years later, a defect was noted in the spleen on a follow-up radiocolloid study. A repeat examination showed that the mass was increasing in size. An abdominal CT examination also revealed an intrasplenic mass with spring of the liver. After splenectomy for a metastatic carcinoma of the colon, the patient has survived for over a year without symptoms referable to tumor spread. Mention is made of the apparent splenic "immunity" from metastases.

Adenocarcinoma↗
PubMed1993

Splenic and partial hepatic necrosis after vascular occlusion.

A 74-year-old woman underwent two operations to correct an aortoduodenal fistula and to have an axillofemoral bypass graft inserted; these required temporary vascular occlusion. Her hepatic function test results began deteriorating. Initial and follow-up Tc-99m sulfur colloid studies revealed activity in the kidneys, consistent with disseminated intravascular coagulation. There was significant radiocolloid in the bone marrow and lungs, suggesting severe hepatic dysfunction. The spleen was not demonstrable on dynamic images or static views. In addition, there was a significant lateral hepatic defect, with a "lung overlap." The splenic lack of function and the hepatic lesion were due to necrosis (demonstrable on CT imaging), likely related to the prior vascular clamping.

Abdomen↗