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Quadriplegia of 4 days' duration in a 3-week-old foal was caused by displacement of the dens of the axis due to a fracture at the dens growth plate. The displacement was reduced and was immobilized surgically. Two months after surgery, the foal was able to rise, walk, and trot without apparent neurologic deficiencies. Three years later, the only defect was a mild gait disturbance in the left hindlimb seen at a canter and a gallop.
Two cases of recurrent pulmonary embolism are presented: the perfusion lung scintigrams, having been positive on admission, later showed nearly complete restoration of perfusion. However, during the second episode of pulmonary embolism, which occurred several years later, the perfusion defects were located in the same foci as previously.
The author offers a prosthesis with variable internal configuration made of human fetus flat bone. The prosthesis is intended for ossicle tympanoplasty in chronic otitis media when total and subtotal destruction of the auditory ossicle takes place and in partial defect of the lateral attic wall. The design warrants adjustment to different area of the tympanic ring region. Morphological and functional outcomes of the reconstruction are satisfactory.
In 1945, Thomas Cooley described the first cases of X-linked sideroblastic anemia (XLSA) in two brothers from a large family in which the inheritance of the disease was documented through six generations. Almost 40 years later the enzymatic defect in XLSA was identified as the deficient activity of the erythroid-specific form of delta-aminolevulinate synthase (ALAS2), the first enzyme in the heme biosynthetic pathway. To determine the nature of the mutation in the ALAS2 gene causing XLSA in Cooley's original family, genomic DNAs were isolated from two affected hemizygotes, and each ALAS2 exon was PCR amplified and sequenced. A single transversion (A to C) was identified in exon 5. The mutation predicted the substitution of leucine for phenylalanine at residue 165 (F165L) in the first highly conserved domain of the ALAS2 catalytic core shared by all species. No other nucleotide changes were found by sequencing each of the 11 exons, including intron/exon boundaries, 1 kb of 5'-flanking and 350 nucleotides of 3'-flanking sequence. The mutation introduced an Mse I site and restriction analysis of PCR-amplified genomic DNA confirmed the presence of the lesion in the two affected brothers and in three obligate heterozygotes from three generations of this family. Carrier diagnosis of additional family members identified the mutation in one of the proband's sisters. After prokaryotic expression and affinity purification of both mutant and normal ALAS2 fusion proteins, the specific activity of the F165L mutant enzyme was about 26% of normal. The cofactor, pyridoxal 5'-phosphate, activated and/or stabilized the purified mutant recombinant enzyme in vitro, consistent with the pyridoxine-responsive anemia in affected hemizygotes from this family.
A 35-year-old woman presented with a 4-month history of jaundice and pruritus. Endoscopic retrograde cholangiography (ERC) showed a partially obstructed common hepatic duct with a smooth and curved laterally based compression defect having the appearance of being secondary to an impacted gallbladder stone. Gallbladder filled with contrast medium but the cystic duct was not visualized, thus suggesting cholecystobiliary fistula formation. According to these radiologic findings, the diagnosis of Mirizzi syndrome was made. We discuss differential diagnosis, therapeutic aspects and the importance of preoperative diagnosis.
A total of 868 patients aged 25 to 68 with various types of occlusion and dentition defects were examined. 212 (24.4%) patients presented with a shortened interalveolar distance (height of occlusion). Abnormal abrasion of hard dental tissues, dentition defects in the lateral sections of dental arches, abnormal occlusion (deep or prognathic), reduced tolerance of periodontal tissues, and dysfunction of the masticatory muscles (bruxism) were found to be the pathogenetic factors leading to the development of this condition. Dysfunction of the masticatory muscles was detected in 41.5% of patients with shortened interalveolar distance and dysfunction of the temporomandibular joint in 9.9%; moreover, in many of them traumatic occlusion and disorders in the regional circulation in the periodontium of teeth exposed to overexercise were observed. Orthodontic treatment of patients with shortened interalveolar distance was carried out in two stages: the first stage consisted in functional and adaptation restructuring of the maxillodental system by repair of the height of occlusion and normalization of the mandibular position on a plastic cup which the patients wore for 3 months, and then the second stage ensued, at which they were fitted with dentures. Good results were attained in 95.7% patients.
While different sorts of affection of the biliary tree by the hydatide cysts of the liver are frequent (20-30%), vascular complications are rare. That is why serious peroperative bleedings are usually caused by surgical mistakes. Bleeding caused by hydatide cyst itself is very rare, sudden, abundant, dramatic and usually lethal on the operative table. We present a 76-years-old man in whom during the operation of a huge hydatide liver cyst, sudden and abundant bleeding from the defect (2 x 0.5 cm) of the left hepatic vein caused by the cyst itself, appeared. The bleeding was successfully solved by direct suture of the defect. Three months later hepatitis B viral infection manifested apparently after numerous blood and plasma transfusions during surgery, and patient died in hepato-renal syndrome.
We show here that the lin-11 LIM homeobox gene is expressed in nine classes of head, ventral cord, and tail neurons and functions at a late step in the development of a subset of these neurons. In a lin-11 null mutant, all lin-11-expressing neurons are generated. Several of these neurons, however, exhibit neuroanatomical as well as functional defects. In the lateral head ganglion, lin-11 functions in a neural network that regulates thermosensory behavior. It is expressed in the AIZ interneuron that processes high temperature input and is required for the function of AIZ in the thermoregulatory neural network. Another LIM homeobox gene, ttx-3, functions in the antagonistic thermoregulatory interneuron AIY (). Thus, distinct LIM genes specify the functions of functionally related antagonistic interneurons within a neural network dedicated for thermoregulatory processes. Both ttx-3 and lin-11 expression are maintained throughout adulthood, suggesting that these LIM homeobox genes play a role in the functional maintenance of this neural circuit. We propose that particular LIM homeobox genes specify the distinct features of functionally related neurons that generate patterned behaviors.
The excimer formation technique has been applied to investigate the mechanism of the lateral diffusion in the crystalline P beta' phase of dipalmitoylphosphatidylcholine vesicles. This became possible at low pyrene concentrations. From the shape of phase-transition curves, from the effect of pressure up to 150 bar and from the perturbation induced by cholesterol, we conclude that the free volume model could also be applied to the P beta' phase. However, the diffusion is thought to occur in defect structures that are considered to form fluid pathways between domains of crystalline lipid. Partition coefficients of amphipaths provide a basis for testing for the role of defects. The amphipath chlorpromazine partitions into fluid membranes with a partition coefficient, kp, of 3200, into the crystalline phase with kp = 200 but into the P beta' phase with a value of kp = 800. This again gives rise to the assumption that the P beta' phase contains fluid domains that behave like the fluid L alpha phase and make up about 10-20% of the total amount of lipid in the bilayer. Cholesterol is known to interfere especially with defect structures in the P beta' phase. It fills up the gaps, and therefore reduces the partition coefficient to almost zero in the P beta' phase.
BACKGROUND: As the human face ages, there is a depletion of fat that occurs in the submalar region. Various techniques such as fat transfers, fillers, alloplastic implants, and composite rhytidectomies have been used to augment this area in the past. OBJECTIVE: To describe a technique that augments the submalar areas during facelift surgery without the use of fat transfer, fillers, alloplastic implants, or a risky composite technique. METHOD: An oval is scribed over the depressed submalar areas preoperatively. During facelift surgery, a fusiform area is scribed over the SMAS. This fusiform is scribed so that the medial end is directed at the center of the submalar depression, and the lateral end is toward the posterior earlobe. A defect is created within the lateral aspect of the fusiform, but not the medial portion. The fusiform is subsequently closed with a 2-0 Ethibond suture using three horizontal mattress sutures and two interrupted sutures. Upon closure of this defect, SMAS, subSMAS, and subcutaneous tissue overlying the SMAS are recruited into the submalar defect by the simple phenomenon of dog-ear formation. Additionally, there is a component of frank elevation of the tissues inferior to the medial aspect of the fusiform and submalar space. RESULTS: The aforementioned technique has been performed on 123 patients over 7 years and has resulted in consistently good improvement in the submalar space. The procedure is not difficult to learn, and good results can be achieved with initial cases. The learning curve was not found to be steep, with good results being achieved quickly. CONCLUSION: Depression of the submalar space plays a significant role in creating an aged face. In the past, various fillers and/or alloplastic implants have been used to augment this region. A low-risk method is described that mobilizes SMAS, subSMAS, and subcutaneous tissues into the submalar space through the phenomenon of dog-ear formation after fusiform closure.
PURPOSE/METHODS: Bilateral visual field defects resembling an hourglass could be produced by bilateral lateral geniculate lesions. We recently encountered such deficits in a 37-year-old woman after an episode of central pontine myelinolysis. RESULTS/CONCLUSIONS: Automated static perimetry demonstrated the congruous visual field defects to involve both halves of the visual field. They were confirmed with kinetic perimetry, and they remained stable for four years. Magnetic resonance imaging demonstrated enhancing lesions characteristic of myelinolysis in each lateral geniculate.
Quantitative perimetric studies in two patients with involvement of a lateral geniculate nucleus (caused by astrocytoma in one and a small arteriovenous malformation in the other) revealed strikingly incongruous defects in the contralateral homonymous fields of vision. The patterns of these hemianopias were analysed and correlated anatomically in terms of established patterns of retinal projections within the six cellular laminae of the geniculate nucleus. Incongruous wedge-shaped field defects recorded in the patient with the astrocytoma are unique and appear to be pathognomonic of focal geniculate disease in the dorsal crest of the nucleus.
There are numerous techniques available for reconstruction of defects following composite resection of oral cavity and oropharyngeal tumors. No single technique is applicable in all situations. The levator scapulae muscle flap is well known for its application in carotid protection. Little attention is paid to its usefulness in other aspects of head and neck reconstruction. We have been using the levator scapulae muscle flap for a variety of reconstructive problems. The flap is useful for buttressing intraoral suture lines, closing intraoral defects, and providing soft tissue to fill in dead spaces and bulk out lateral and anterior oral defects. The levator flap was found to be easy to elevate, safe, and reliable with a minimum of wound complications. A review of 18 patients, representative case studies, and a discussion of surgical technique and relevant anatomy and blood supply is presented.
We have studied mechanisms involved in generating a polarized distribution of Na/K-ATPase in the basal-lateral membrane of two clones of MDCK II cells. Both clones exhibit polarized distributions of marker proteins of the apical and basal-lateral membranes, including Na/K-ATPase, at steady state. Newly synthesized Na/K-ATPase, however, is delivered from the Golgi complex to both apical and basal-lateral membranes of one clone (II/J), and to the basal-lateral membrane of the other clone (II/G); Na/K-ATPase is selectively retained in the basal-lateral membrane resulting in the generation of complete cell surface polarity in both clones. Another basal-lateral membrane protein, E-cadherin, is sorted to the basal-lateral membrane in both MDCK clones, demonstrating that there is not a general sorting defect for basal-lateral membrane proteins in clone II/J cells. A glycosyl-phosphatidylinositol (GPI)-anchored protein (GP-2) and a glycosphingolipid (glucosylceramide, GlcCer) are preferentially transported to the apical membrane in clone II/G cells, but, in clone II/J cells, GP-2 and GlcCer are delivered equally to both apical and basal-lateral membranes, similar to Na/K-ATPase. To examine this apparent inter-relationship between sorting of GlcCer, GP-2 and Na/K-ATPase, sphingolipid synthesis was inhibited in clone II/G cells with the fungal metabolite, Fumonisin B1 (FB1). In the presence of FB1, GP-2 and Na/K-ATPase are delivered to both apical and basal-lateral membranes, similar to clone II/J cells; FB1 had no effect on sorting of E-cadherin to the basal-lateral membrane of II/G cells. Addition of exogenous ceramide, to circumvent the FB1 block, restored GP-2 and Na/K-ATPase sorting to the apical and basal-lateral membranes, respectively. These results show that the generation of complete cell surface polarity of Na/K-ATPase involves a hierarchy of sorting mechanisms in the Golgi complex and plasma membrane, and that Na/K-ATPase sorting in the Golgi complex of MDCK cells may be regulated by exclusion from an apical pathway(s). These results also provide new insights into sorting pathways for other apical and basal-lateral membrane proteins.
OBJECTIVE: To investigate the methods of interventional catheterization for combined congenital heart disease and to evaluate its efficacy in children. METHODS: From March 1994 to December 2003, 15 cases (6 boys, 9 girls) underwent transcatheter intervention for combined congenital heart diseases. The procedure of transcatheter intervention was as follows: for pulmonary stenosis (PS) and atrial septal defect (ASD) or patent ductus arteriosus (PDA), PBPV first, occlusion of ASD or PDA later; for coarctation of aorta (COA) and PDA, dilation of COA first, occlusion of PDA 4-15 months later; for aortic stenosis (AS) and PDA, PBAV first, occlusion of PDA later; for ventricular septal defect (VSD) and PDA, all occlusions with detachable coils. RESULT: Transcatheter intervention for combined congenital heart diseases was successful in all patients. There was no residual shunt after occlusion immediately apart from 2 cases of PDA which were little residual after occlusion immediately. Follow-up for (3.57 +/-2.61) years, the systolic pressure gradients across pulmonary valve and coarctation were normal by ultrasonic or transcatheter, except AS. There was 3 cases presented postoperative complications: 1 with mechanical haemolysis, 1 with fall off of coil and 1 with arterial embolism, respectively. CONCLUSION: Transcatheter intervention for combined congenital heart diseases could obtain satisfactory results with appropriate indications and procedure manipulations.
The purpose of this study was to examine the relationship between the presence or absence of ST segment depression in inferior leads (II, III, and aVF) and ST segment elevation in lateral (I and aVL) or left precordial (V5 and V6) leads with the amount and location of myocardium at risk for infarction in patients with acute anterior myocardial infarction. Forty-three patients with anterior infarctions were injected with technetium 99m-sestamibi when they were first seen and underwent tomographic imaging to measure the amount and location of myocardium at risk. Patients with inferior ST depression (n = 10) compared with those without ST depression (n = 33) had perfusion defects that extended significantly further into the lateral wall (47 degrees vs 20 degrees, p = 0.04) and larger anterior injury vectors (6.47 vs 4.92, p = 0.008). There was no significant association with the percentage of myocardium at risk, disease of the right coronary artery, the presence of an inferior perfusion defect, or the size of the inferior injury vector. Among the patients with ST elevation in lateral leads (n = 16) compared with those without (n = 27), there was a significantly more lateral defect border (47 degrees vs 25 degrees, p = 0.007) and a larger anterior injury vector (6.07 vs 4.81, p = 0.01). There was no significant correlation with the percentage of myocardium at risk. A significant relationship could not be demonstrated between the presence of ST elevation in the left precordial leads and any measure of the amount or location of myocardium at risk. These data support the theory that inferior ST depression in patients with transmural anterior ischemia is a "reciprocal" finding and does not represent inferior ischemia. The presence of inferior ST depression or lateral ST elevation is associated with a more lateral perfusion defect. Neither of these ECG findings is associated with the amount of myocardium at risk for infarction.
OBJECTIVE: To assess the ability of the 12-lead electrocardiogram to estimate infarction size after reperfusion therapy for acute myocardial infarction. DESIGN: The presence or absence of Q waves and the Selvester QRS score obtained before and after hospital discharge were compared with radionuclide estimates of infarction size and ejection fraction at discharge and 6 weeks later, regional wall motion at discharge and 6 weeks later, and myocardial perfusion defect size quantitated with Tc-99m-sestamibi at discharge. SETTING: A tertiary referral center. PATIENTS: A consecutive series of 43 patients with acute myocardial infarction who received acute reperfusion therapy and were assessed using 12-lead electrocardiography, radionuclide angiography, and Tc-99m-sestamibi tomographic imaging before discharge. INTERVENTIONS: All 43 patients received acute reperfusion therapy: 21 patients received intravenous tissue plasminogen activator, and 22 patients underwent primary percutaneous transluminal coronary angioplasty. MAIN OUTCOME MEASURE: The correlation of QRS score and Q waves with three radionuclide estimates of infarction size. RESULTS: A significant correlation was found between myocardial perfusion defect size at discharge and both left ventricular ejection fraction and regional wall motion at discharge and 6 weeks later (r = -0.71 to -0.81; all comparisons, P less than 0.001). Little correlation was found between electrocardiographic findings and radionuclide measurements of left ventricular function and perfusion. Presence or absence of Q waves at discharge was not associated with any difference in ejection fraction, regional wall motion, or perfusion defect at discharge. No correlation was found between QRS score and ejection fraction or myocardial perfusion defect size at discharge. The QRS score at discharge correlated only weakly with regional wall motion at discharge and 6 weeks later. This lack of correlation was unchanged when electrocardiograms obtained after hospital discharge were analyzed. CONCLUSION: Although inexpensive and readily available, the 12-lead electrocardiogram does not appear to provide a reliable estimate of infarction size after reperfusion therapy for acute myocardial infarction.
Instead of conventional multiple-paddle or folded free flaps, the authors introduce three types of free combined tissue transfers for cosmetic and functional restoration of massively large facial defects. Three cases reported here were repaired with combined flaps consisting of two or more tissues, such as combined free anterolateral thigh flaps and vascularized muscle or bone grafts. In cases with complex defects in the upper lateral face, facial dynamics were also reconstructed with a free vascularized innervated muscle graft. A complex hemifacial defect involving the orbita and nose can be easily reconstructed with free osteocutaneous flaps in two stages. For complex craniofacial defects, the concept of combined chimeric tissue transfers is most suitable. The ideal pedicle vessels for the combined flaps are considered to be those in the lateral circumflex femoral system, which is far from the head and neck regions, because flap elevation can proceed simultaneously with tumor resection.