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A child with laryngo-onychocutaneous syndrome partially responsive to treatment with thalidomide.

Laryngo-onychocutaneous syndrome (LOCS) is a condition characterized by erosive or ulcerative skin lesions associated with excessive granulation tissue, at sites of trauma such as the digits, elbows and knees. Similar lesions can occur within the conjunctival mucosa, leading to corneal scarring and blindness. The main complications, however, occur in the respiratory tract, where a similar process of erosions and subsequent formation of granulation tissue causes airway obstruction which may lead to premature death. LOCS is now believed to be a nonblistering variant of junctional epidermolysis bullosa and to date there are no efficacious treatments available. We report a 16-year-old girl with LOCS who failed to respond to methylprednisolone and cyclophosphamide, but had a partial response to oral thalidomide with marked decrease in granulation tissue and tracheal secretions. Interruption of treatment resulted in prompt resurgence of the granulation tissue which was again controlled by reintroduction of thalidomide. We propose that in the absence of effective therapies for LOCS, a trial of thalidomide in these patients should be considered.

Adolescent↗

Distensibility of the pulmonary autograft under systemic pressure.

BACKGROUND AND AIMS OF THE STUDY: Although the Ross procedure has recently been recognized as one of the best replacements of the aortic valve, regurgitation has occasionally been observed with dilatation of the sinotubular junction (STJ) and/or basal ring (BR). This study was designed to evaluate the native distensibility of the free pulmonary root under systemic pressure. METHODS: Pulmonary arterial grafts (n = 7) were taken from pig hearts and pressurized (20-100 cmH2O) with crystal sensors attached around the STJ and BR. Dimensions of the STJ and BR were measured using a digital 3-D ultrasonic sonomicrometer at different pressures (20-100 cmH2O) with and without the STJ and/or BR plicated with felt-strip to prevent overdistension. Valve insufficiency was evaluated macroscopically and endoscopically. RESULTS: All grafts showed no obvious valve insufficiency at 20 cmH2O. Grafts pressurized at 100 cmH2O showed 125+/-6% and 113+/-5% enlargement of dimensions compared with baseline (20 cmH2O) data at the STJ and BR respectively, with recognizable insufficiency. When the STJ was plicated to prevent overdistension at 100 cmH2O with less dilated BR (106%), mild excentric insufficiency was observed. In case of the BR plicated at 100 cmH2O with a less dilated STJ (112%), central slight regurgitation was observed. Both the STJ and BR plications resulted in no recognizable regurgitation. CONCLUSION: Free pulmonary arterial grafts were remarkably enlarged under systemic pressure with recognizable valve insufficiency; this could be prevented by maintaining the original dimensions of the graft STJ and BR.

Animals↗

Rapid determination of intraepithelial resistance barriers by alternating current spectroscopy. I. Experimental procedures.

A method has been developed to determine rapidly and simultaneously the resistance of the tight junctions, the resistance of the lateral intercellular space, and the resistances and capacitances of the apical and basolateral cell membrane in leaky epithelia by alternating current spectroscopy. The present paper describes the experimental procedures. Multi-frequency sine-wave currents are simultaneously applied across the tissue and the transepithelial and intracellular voltage responses are recorded with shielded microelectrodes, digitized, and stored in a computer. Using Fast Fourier Transform techniques the frequency-dependent transepithelial impedance and an apparent basal cell membrane impedance are then calculated from the voltage and current waveform. By fitting appropriate model circuits to the data the above listed individual resistances can be deduced. The model calculations and the fit results are described in the subsequent paper [14]. In the present design the analysis covers the frequency range between 2.5 Hz and 12.5 kHz. The minimal measuring time is in the order of 1-2s.

Animals↗

Novel GJA1 mutations in patients with oculo-dento-digital dysplasia (ODDD).

Oculo-dento-digital dysplasia (ODDD) is an autosomal dominant disorder characterized by developmental anomalies of the face, the eyes, the limbs and the teeth. Patients with ODDD usually present with complete syndactyly of the fourth and fifth fingers (type III syndactyly), ocular changes, abnormalities of primary and permanent dentition and specific craniofacial malformations. Mutations in GJA1, a gene that encodes the gap junction protein connexin 43, are responsible for ODDD. Gap junctions are assemblies of intercellular channels that allow exchange of various ions and signaling molecules between cells. In this way, gap junctions play an important regulatory role in a variety of physiologic and developmental processes. We identified three novel and one previously described GJA1 mutation in two large ODDD families and two sporadic ODDD cases.

Abnormalities, Multiple↗

Persistent primitive trigeminal artery imaged by three-dimensional computed tomography angiography--two case reports.

Three-dimensional computed tomography (3D CT) angiography was used to investigate two cases of persistent primitive arteries. 3D CT angiography and 3D CT demonstrated a persistent primitive trigeminal artery variant penetrating the lateral edge of the posterior clinoid process and running to the posterior medial side, and a persistent primitive trigeminal artery perforating the canal of the posterior clinoid process and the petrosal bone junction. 3D CT angiography can delineate these persistent primitive arteries and the anatomy relative to the bone structure simultaneously, so is very useful to identify the arterial line where the canal is penetrated.

Angiography, Digital Subtraction↗

Stent-graft placement for wide-neck aneurysm of the vertebrobasilar junction.

We present a case in which a stent-graft was used to treat an aneurysm of the vertebrobasilar junction. According to our literature search, this is one of the first cases involving the intracranial placement of a stent-graft and the first case in which an aneurysm of the vertebrobasilar junction was treated in this manner. A stent-graft can be useful device for the neuroendovascular treatment of aneurysms in select patients.

Adult↗

Brain oedema induced by ventricular puncture. A study by magnetic resonance on a series of forty-one normal-pressure hydrocephalic patients.

After ventricular catheterization magnetic resonance (MR) imaging very often demonstrates a focal area of high signal along the drain track which corresponds to parenchymal oedema. This high signal seemed to be more pronounced when the frontal area was catheterized than when the junctional parieto-temporo-occipital parenchyma (or trigonal area) was catheterized. In order to confirm this impression, we prospectively studied 41 consecutive patients with normal-pressure hydrocephalus in whom both of these brain regions were catheterized for intracranial pressure monitoring. Each patient was evaluated by serial MR. The extent of the MR hypersignal induced by both catheterizations was computed from digitized MR masks. The extent of the MR high signal area was significantly greater when the frontal area was catheterized compared to the trigonal area suggesting that the frontal area could be more prone to injury.

Adult↗

Computerized colposcopy and conservative management of cervical intraepithelial neoplasia in pregnancy.

BACKGROUND: Computerized colposcopy is the noninvasive digital processing of colposcopic images acquired using a charge-coupled device camera. The purpose of this study was to evaluate the clinical applications of computerized colposcopy, and to record the colposcopic changes associated with progression or regression of cervical intraepithelial neoplasia in pregnancy. METHODS: Forty-one pregnant patients, with abnormal Papanicolaou smears and a fully visualized squamo-columnar junction, were serially monitored throughout their pregnancies using computerized colposcopy. All patients had baseline computer-assisted measurements of their cervical lesions and a repeat measurement at monthly intervals and at 3-months postpartum. RESULTS: During the period of gestation, 17.1% of lesions increased in size, 21.9% remained unchanged, 41.5% decreased in size and 19.5% disappeared completely. In patients with an increase in lesion size, a colposcopically directed punch biopsy was performed which revealed CIN III but no microinvasion. Cervical biopsy during pregnancy was unnecessary in 82.9% of cases. CONCLUSION: The ability to sequentially monitor and quantify colposcopically visualized lesions, using computerized colposcopy, provides a noninvasive objective mode to evaluate progression, stability, or regression of CIN lesions during pregnancy.

Adult↗

[Diagnosis of unruptured cerebral aneurysms using magnetic resonance angiography and three dimensional computed tomographic angiography].

The purpose of this study is to confirm the use of magnetic resonance (MR) angiography and three-dimensional computed tomographic (3D CT) angiography, in the screening of unruptured cerebral aneurysms. Sixty-six unruptured cerebral aneurysms in forty-eight patients were examined by MR angiography, 3D CT angiography and digital subtraction angiography (DSA). All cases underwent surgery. Three out of sixty-six (4.5%) cerebral aneurysms detected by MR angiography and 3D CT angiography were false positive. The false aneurysms were located at the region of the internal carotid artery and the posterior communicating artery, and were under 2.0mm in size. The diagnosis of the infundibular dilatation at the junction of the internal carotid artery and the posterior communicating artery remained difficult. The true positive diagnosis of aneurysms using MR angiography or 3D CT angiography was 95.5%, in our hospital. All unruptured cerebral aneurysms over 2.0mm in size were detected correctly by using MR angiography and 3D CT angiography, as well as DSA. The inadequate diagnosis of aneurysms caused by MR angiography was due to the overlapping of vessels and the surrounding noise. Superselective maximum intensity projection (MIP) and interactive vascular imaging (IVI) were adopted for exact diagnosis. Furthermore, the three slab method of MR angiography was used for containing the limits between the vertebral artery and the distal anterior cerebral artery, and the triple method was able to decrease surrounding noise. Using MR angiography, we diagnosed and operated on about 100 cases of unruptured cerebral aneurysm in one year. Our conclusion is that we can diagnose any unruptured cerebral aneurysm, over 2.0mm in size, using MR angiography and 3D CT angiography.

Adult↗

Nail matrix nevi: a clinical and histopathologic study of twenty-two patients.

BACKGROUND: Because most dermatologists do not regularly perform biopsies of longitudinal melanonychia, even when the pigmentation presents as a single band, the true prevalence of nail matrix nevi is unknown. OBJECTIVE: Our purpose was to determine the prevalence of nail matrix nevi in white patients with longitudinal melanonychia involving a single digit and to determine whether longitudinal melanonychia caused by a nail matrix nevus can be clinically distinguished from longitudinal melanonychia from other causes. METHODS: From January 1989 to December 1994 we performed a nail biopsy on 100 of 128 consecutive white patients who had a single band of "idiopathic" longitudinal melanonychia. RESULTS: A nail matrix nevus was detected in 22 patients. A junctional nevus was found in 19 specimens and a compound nevus in three specimens. CONCLUSION: Nail matrix nevi in Caucasian patients are uncommon but not exceptional. The number of nevi presenting with longitudinal melanonychia exceeded that of melanoma. The diagnosis of nail matrix nevi is impossible clinically and always requires histopathologic study. The pathologic features of nail matrix nevi are similar to those of skin nevi except for their architectural pattern, which reflects the peculiar anatomy of the nail unit.

Adolescent↗

Where antecubital catheters go: a study under fluoroscopic control.

Fifty attempted central venous cannulations via the antecubital route were studied with fluoroscopy to determine catheter tip location. Only "catheter through needle" devices were employed. Successful central placement occurred on the first attempt in 27 cases. The major impediment to central location of the catheter tip (ten cases) was the tendency of the catheter tip to lodge at the subclavian-internal jugular vein junction. The second most common cause of noncentral location was migration of the catheter tip into the internal jugular vein (nine cases). One catheter tip was located in the contralateral subclavian vein and one ended in the external jugular vein. All of these problems were avoided by two maneuvers: 1) turning the patient's head toward the side of cannulation and applying digital pressure to the ipsilateral supraclavicular fossa, and 2) withdrawing the catheter stylet and injecting 5-10 ml of physiologic saline solution while the catheter was advanced. The only cause of unsuccessful central placement in this study was inability to pass the catheter tip past the axillary venous plexus (two patients). It is concluded that the head-turn-supraclavicular fossa pressure maneuver in combination with the stylet withdrawal-saline injection maneuver can result in greater than a 90% rate of successful central venous catheter placement.

Axillary Vein↗

In vitro computer analysis of crown discolouration from commonly used endodontic sealers.

The aim of this study was to assess the degree of staining of tooth crowns by commonly used endodontic sealers using a computer analysis method. Crown discolouration by root canal sealers AH26, Endofill, Tubliseal, Zinc oxide eugenol (ZnOE), Apatite root canal sealer III as well as gutta-percha and Cavizol (a filling material containing ZnOE) were tested on extracted human premolar teeth. The roots of the teeth were resected 3 mm below the cemento-enamel junction. The pulp chambers were then cleaned and irrigated. The samples were divided into nine groups of five samples each and filled with test materials. Ten teeth were used as control groups: five positive (amalgam) and five negative (distilled water). The degree of tooth discolouration was analysed at 3, 6 and 9 months. The crown discolouration was assessed by computer analysis of digital images taken from the samples using the CIE Lab colour system. Statistical analysis was carried out using anova, repeated measure anova and Tukey's HSD tests. All sealers caused a degree of tooth discolouration, which increased with time. Endofill and ZnOE caused the greatest discolouration and Apatite root canal sealer III caused the least discolouration after 9 months. The most discolouration during the test periods occurred in the cervical third of the crown.

Analysis of Variance↗

[Usefulness of magnetic resonance imaging (MRI) in the detection of the lesions of gestational trophoblastic disease--comparison with computed tomography and digital subtraction angiography].

Twenty patients with gestational trophoblastic disease (GTN) were examined by Magnetic Resonance Imaging (MRI), Computed Tomography (CT) and Digital Subtraction Angiography (DSA), to evaluate their usefulness in the diagnosis of the disease. The lesions of hydatidiform mole were mainly composed of molar vesicles, dilated vessels and hemorrhage which were depicted as small round high intensity lesions on the T2-weighted images and as tree-like low intensity lesions and high or low intensity lesions of various shapes in the T1-, T2-weighted images. These MRI findings closely corresponded to the histopathological findings. On the other hand, CT findings obtained with hydatidiform mole were characterized by filling defects or a small round low density area on contrast enhanced images. The detection ratio for intramural lesions of invasive mole and choriocarcinoma by MRI was 83% (5/6), while that by CT was 50% (3/6). The obliteration of the junctional zone and interruption of the myometrium observed in MRI were significant signs suggesting intramural invasion of the disease. In fact, these signs in MRI were observed in all of the six cases with invasive mole or choriocarcinoma examined. In conclusion, MRI is a powerful means for the determining the intramural invasive mole and choriocarcinoma. Thus more accurate diagnosis of GTN will be obtained with the combined use of MRI and DSA.

Angiography, Digital Subtraction↗

Digital memory recorder in electromyography and nerve conduction studies.

Specifications are given: (i) for a 3-channel digital memory that, when connected to an inkjet writer, allows action potentials from muscle and nerve to be recorded without distortion (upper limiting frequency 10,000 Hz); (ii) for a 14-channel digital memory connected to a 14-channel inkjet writer for the measurement of the territory of the motor units by recording simultaneously from 14 leads of a multi-electrode spaced over the cross-section of the muscle; (iii) for a digital circuit that rejects signals that exceed a given amplitude and duration and interfere with electronic averaging of potentials from sensory nerve less than 1 muV in amplitude.

Electromyography↗

Efficient 3D finite element analysis of dental restorative procedures using micro-CT data.

OBJECTIVES: This investigation describes a rapid method for the generation of finite element models of dental structures and restorations. METHODS: An intact mandibular molar was digitized with a micro-CT scanner. Surface contours of enamel and dentin were fitted following tooth segmentation based on pixel density using an interactive medical image control system. Stereolithography (STL) files of enamel and dentin surfaces were then remeshed to reduce mesh density and imported in a rapid prototyping software, where Boolean operations were used to assure the interfacial mesh congruence (dentinoenamel junction) and simulate different cavity preparations (MO/MOD preparations, endodontic access) and restorations (feldspathic porcelain and composite resin inlays). The different tooth parts were then imported in a finite element software package to create 3D solid models. The potential use of the model was demonstrated using nonlinear contact analysis to simulate occlusal loading. Cuspal deformation was measured at different restorative steps and correlated with existing experimental data for model validation and optimization. RESULTS: Five different models were validated by existing experimental data. Cuspal widening (between mesial cusps) at 100 N load ranged from 0.4 microm for the unrestored tooth, 9-12 microm for MO, MOD cavities, to 12-21 microm for endodontic access cavities. Placement of an MOD adhesive restoration in porcelain resulted in 100% cuspal stiffness recovery (0.4 microm of cuspal widening at 100 N) while the composite resin inlay allowed for a partial recuperation of cusp stabilization (1.3 microm of cuspal widening at 100 N). SIGNIFICANCE: The described method can generate detailed and valid three dimensional finite element models of a molar tooth with different cavities and restorative materials. This method is rapid and can readily be used for other medical (and dental) applications.

Bite Force↗

Influence of zygapophyseal joint orientation on hyaline cartilage at the thoracolumbar junction.

Hyaline articular cartilage from 102 thoracolumbar junction zygapophyseal joints was examined using light microscopy. One section from the upper, middle and lower third of each joint at the T10-11, T11-12, T12-L1 and L1-2 spinal levels was photographed using 35 mm color film. Hyaline articular cartilage cross-sectional area of the superior and inferior articular processes of each joint pair, at each level, was digitized using computer-aided planimetry. Differences in area were compared with joint orientation (symmetry or tropism) and geometry of each joint pair at each spinal level. Variation in hyaline cartilage cross-sectional area between joint pairs could be attributed to: a) geometric differences, b) the presence of a mortice joint, or c) osteoarthritic changes, with or without tropism. These findings were most frequently demonstrated at the transitional levels of T11-12 and T12-L1.

Adolescent↗

Development of cytoplasmic digitations between Leydig cells and testicular macrophages of the rat.

Testicular macrophages and Leydig cells from adult animals are known to be functionally coupled. For example, secreted products from macrophages stimulate testosterone secretion by Leydig cells. In adult rat testes, structural coupling also exists between these cells. This coupling consists of cytoplasmic projections from Leydig cells located within cytoplasmic invaginations of macrophages. Although macrophages are known to exist in the testis in immature animals, it is not known when these digitations develop. The purpose of the present study was to determine whether the time of their development coincides with known maturational events that occur in Leydig cells, particularly during the peripubertal period. Testes from rats at 20, 30 and 40-days-of-age as well as testes from mature rats weighing more than 500 gm were prepared for ultrastructural analysis. It was found that digitations form between 20 and 30-days-of-age. These structures varied from simple tubular projections to complicated branched structures, suggesting that digitations are more than simple invaginations of microvilli into coated vesicles as previously described. Subplasmalemmal linear densities were also observed within macrophages juxtaposed to Leydig cells. Collagen was commonly observed between macrophages and Leydig cells in animals 20 days old. These studies demonstrate that although macrophages are present in the testis in maximal numbers at 20 days-of-age, they do not form junctions with Leydig cells until day 30. This is just prior to the major increase in secretory activity of rat Leydig cells that occurs during puberty.

Animals↗

The dynamic mobility of vertebral compression fractures.

We have observed that some osteoporotic vertebral compression fractures (VCFs) are mobile. The purpose of this report was to document the existence of dynamic fracture mobility, estimate the frequency of dynamic mobility in patients referred for vertebroplasty, define the magnitude and nature of dynamic mobility, and consider the implications of the dynamic mobility of osteoporotic VCFs. This was a prospective radiographic analysis of 41 consecutive patients with 65 VCFs who underwent vertebroplasty. Preoperative standing lateral radiographs of the fractured vertebrae were compared with supine cross-table lateral radiographs to determine the presence or absence of dynamic mobility. Postoperative standing lateral radiographs were evaluated to document fracture mobility and assess final vertebral height restoration. Radiographs were manually digitized to calculate vertebral body morphometrics. Dynamic fracture mobility was demonstrated in 44% of patients (35% of treated vertebrae) who underwent vertebroplasty. Postoperatively, in mobile fractures, average anterior vertebral height increased 106% compared with initial fracture height (absolute increase, 8.41 +/- 0.4 mm). Mean lateral vertebral area increased from 48% to 80% of normal, and kyphotic angle decreased 40%. Mobile fractures dominated at the thoracolumbar junction. Intravertebral clefts were defined and identified in every mobile fracture and were absent from every nonmobile (fixed) fracture. This radiographic series documents the previously unrecognized occurrence of dynamic fracture mobility in many osteoporotic VCFs. Fracture mobility can be substantial and clinically significant. Any intervention that claims vertebral height restoration must control for the occurrence of dynamic fracture mobility.

Aged↗