Tratamiento ortopédico funcional de los maxilares y ortodóntico en paciente con síndrome del cromosoma X- frágil. Reporte de caso / Functional orthopedic jaw and orthodontic treatment in a patient with fragile-X syndrome. A case report

El síndrome X frágil (SXF) es un trastorno ligado al cromosoma X, en el brazo largo Xq27.3, que provoca diversas alteraciones como problemas de conducta, deficiencia intelectual, macroorquidia, pabellones auditivos grandes y prominentes, paladar profundo y ojival, prognatismo mandibular, maloclusión y anomalías dentarias. El objetivo de este informe fue presentar el caso clínico de una paciente de 16 años con SXF, leucodermia, que se sometió a un tratamiento ortopédico funcional de los maxilares para la corrección del apiñamiento dentario. En el examen clínico se observaron timidez, ansiedad, inestabilidad emocional, trastornos conductuales esporádicos asociados a discapacidad intelectual leve, alteraciones craneofaciales y oclusales. Luego del estudio, evaluación radiográfica panorámica y trazados cefalométricos, se decidió instalar un dispositivo ortopédico funcional de maxilar, tipo Pistas Planas Indirectas, para posterior tratamiento ortodóncico correctivo. Bien al inicio del tratamiento se observó dificultad de comprensión y colaboración por parte de la paciente y su responsable (madre) y, luego de 5 meses, aún con mejoras en las funciones estomatognáticas, se inició el tratamiento ortodóntico con dispositivo fijo, el que fue concluido luego de dos años. El éxito del tratamiento de ortopedia funcional de los maxilares y/u ortodóntico, principalmente en el SXF, se basa en el abordaje comportamental y motivación en todas las etapas del tratamiento por el profesional, así como en un ambiente familiar colaborativo.

The Fragile-X Syndrome (FXS) is a disorder linked to X chromosome, on the long arm Xq27.3, causing several changes such as behavioral problems, intellectual disability, macroorchidism, large and prominent auricles, deep and ogival palate, mandibular prognathism, increased mandibular angle, malocclusion, and dental anomalies. The objective was to present a case of a 16-year-old patient with FXS, leukoderma, submitted to orthopedic functional maxillary treatment to correct dental crowding. In general, clinical examination, behavioral changes such as shyness, anxiety, emotional lability, sporadic disturbances of behavior associated with mild mental disabilities were remarkable. After panoramic radiographic evaluation and cephalometric tracings, it was decided to install the functional orthopedic appliance of the jaws, Indirect Flat Planes type, for later corrective orthodontic treatment. At beginning of treatment, there was a difficulty in understanding and collaborating, not only from the patient's side but also from the mother's. After five months, even with the improvement in stomatognathic functions, orthodontic treatment with a fixed appliance was started, which was concluded after two years. Success of functional and / or orthodontic jaw orthopedics treatment, especially in FXS, is based on behavioral approach and motivation in all stages, by the professional as well as a collaborative family environment.

Maintenance of the corneal epithelium is carried out by germinative cells of its basal stratum and not by presumed stem cells of the limbus

The purpose of this investigation was to analyze the proliferative behavior of rabbit corneal epithelium and establish if any particular region was preferentially involved in epithelial maintenance. [3H]-thymidine was injected intravitreally into both normal eyes and eyes with partially scraped corneal epithelium. Semithin sections of the anterior segment were evaluated by quantitative autoradiography. Segments with active replication (on) and those with no cell division (off) were intermingled in all regions of the tissue, suggesting that the renewal of the epithelial surface of the cornea followed an on/off alternating pattern. In the limbus, heavy labeling of the outermost layers was observed, coupled with a few or no labeled nuclei in the basal stratum. This suggests that this region is a site of rapid cell differentiation and does not contain many slow-cycling cells. The conspicuous and protracted labeling of the basal layer of the corneal epithelium suggests that its cells undergo repeated cycles of replication before being sent to the suprabasal strata. This replication model is prone to generate label-retaining cells. Thus, if these are adult stem cells, one must conclude that they reside in the corneal basal layer and not the limbal basal layer. One may also infer that the basal cells of the cornea and not of the limbus are the ones with the main burden of renewing the corneal epithelium. No particular role in this process could be assigned to the cells of the basal layer of the limbal epithelium.

Synthesis and secretion of transferrin by a bovine trabecular meshwork cell line

The trabecular meshwork (TM) is the main outflow pathway in the mammalian eye. Oxidative damage to TM cells has been suggested to be an important cause of impairment of TM functions, leading to deficient drainage of aqueous humor, with deleterious consequences to the eye. Transferrin, a metalloprotein involved in iron transport, has been characterized as an intrinsic eye protein. Since transferrin is implicated in the control of oxidative stress, the objective of the present study was to determine if a bovine TM cell line (CTOB) synthesizes and secretes transferrin. The CTOB cell line was cultured in the presence of 35S-methionine and the incubation medium was submitted to immunoprecipitation. Total RNAs from CTOB and isolated bovine TM (freshly isolated, incubated or not) were subjected to the reverse transcription-polymerase chain reaction and the amplification products were sequenced. Also, both CTOB and histological TM preparations were processed for transferrin immunolocalization. A labeled peptide of about 80 kDa, the expected size for transferrin, was immunopurified from CTOB samples obtained from the incubation assays. The reverse transcription-polymerase chain reaction and sequencing experiments detected the presence of transferrin mRNA in CTOB and isolated bovine TM. Reactivity to antibodies against transferrin was observed both in CTOB and TM. The results obtained in all of these experiments indicated that the TM is capable of synthesizing and secreting transferrin. The possible implications for the physiology of the eye are discussed.

Inguinal hernia repair: comparative study between local spinal and general anesthesia

To compare three different anesthetic techniques for inguinal hernia repair [regional, spinal and general] anesthesia. Prospective study included 75 adult male patients scheduled for elective unilateral reducible primary inguinal hernia repair. Patients were between 18-80 years, ASA physical status I and II. Patients were divided into 3 groups: group I: 25 patients received general anesthesia. Group II: 25 patients received local anesthesia. Group III: 25 patients, received spinal anesthesia. The period from the beginning to the end of the operation was recorded as the duration of the operation. Mean B.P and heart rate, were also recorded. Satisfaction would be recorded as satisfactory or unsatisfactory. Complication: postoperative nausea, vomiting, retention of urine, headache and sore throat were recorded for each patient. There was no statistical significant difference as regard to age, body mass index [BMI], HR and BP [P value > 0.05]. The duration of the procedure was significantly longer in local anesthesia group in comparison to general anesthesia and spinal anesthesia group [P value < 0.01]. Hospital stay was less in group II than the other two groups. Patients were more satisfied in local anesthesia group than the other groups. The cost of the operation was significantly lower in local anesthesia group in comparison to the other two groups. Postoperative pain as measured by Visual analogue scale [VAS] was lower in local anesthesia group than the other groups. Also complications were lower in local anesthesia group in comparison with other groups. We concluded that a proper inguinal field block for inguinal hernia repair provides satisfactory intraoperative analgesia and great benefits for patients as regard faster recovery, less pain, faster mobilization and higher satisfaction

Análisis de los casos de apendicitis aguda en pacientes embarazadas / Analysis of the cases of acute appendicitis in pregnant patients

Se realizó un análisis retrospectivo de 22 pacientes embarazadas intervenidas quirúrgicamente por cuadro de apendicitis aguda en el Hospital Clínico de la Universidad de Chile en un periodo de 4 años. La enfermedad se presentó en 1: 373 nacimientos, con predominio en el segundo trimestre, con una media de edad materna de 29.9 años y un promedio de 20.3 semanas de gestación. Se utilizo técnica quirúrgica clásica y laparoscópica sin complicaciones. Hubo un caso que se complicó con mortalidad fetal por sepsis.

A direct contact between astrocyte and vitreous body is possible in the rabbit eye due to discontinuities in the basement membrane of the retinal inner limiting membrane

Different from most mammalian species, the optic nerve of the rabbit eye is initially formed inside the retina where myelination of the axons of the ganglion cells starts and vascularization occurs. Astrocytes are confined to these regions. The aforementioned nerve fibers known as medullated nerve fibers form two bundles that may be identified with the naked eye. The blood vessels run on the inner surface of these nerve fiber bundles (epivascularization) and, accordingly, the accompanying astrocytes lie mostly facing the vitreous body from which they are separated only by the inner limiting membrane of the retina. The arrangement of the astrocytes around blood vessels leads to the formation of structures known as glial tufts. Fragments (N = 3) or whole pieces (N = 3) of the medullated nerve fiber region of three-month-old male rabbits (Orictolagus cuniculus) were fixed in glutaraldehyde followed by osmium tetroxide, and their thin sections were examined with a transmission electron microscope. Randomly located discontinuities (up to a few micrometers long) of the basement membrane of the inner limiting membrane of the retina were observed in the glial tufts. As a consequence, a direct contact between the astrocyte plasma membrane and vitreous elements was demonstrated, making possible functional interactions such as macromolecular exchanges between this glial cell type and the components of the vitreous body

Sokolow-Lyon voltage criteria in sickle cell patients

The electrocardiogram remains the most commonly used method of cardiac assessment in developing countries. To determine the prevalence of electrocardiographic left ventricular hypertrophy (LVH) and the clinical significance of Sokolow-Lyon voltage criteria in sickle cell patients, echocardiographic and ECG findings were studied in 112 patients (71 with haemoglobin SS disease and 41 with haemoglobin SC disease). Electrocardiographic left ventricular hypertrophy (ECGLVH) defined as Sokolow-Lyon voltage > or = 35 mm was detected in 39 (55) SS patients and 11 (27) SC patients. This prevalence was higher in men than in women. There were statistically significant trends for increasing prevalence of ECGLVH with height (p < 0.007 in SS, and p < 0.01 in SC, patients) and with left ventricular internal dimension (p < 0.05 in SS, and p < 0.01 in SC, patients). But no significant trend was found with increasing posterior wall (PWT) or interventricular septal thickness (IVST). Sensitivity of Sokolow-Lyon criteria for detection of echocardiographic left ventricular hypertrophy was 63and 33in SS and SC patients, respectively, and specificity was 51and 74, respectively. Sokolow-Lyon voltage correlated with left ventricular mass in SS and SC patients (r = 0.44, p < 0.01 and r = 0.32, p < 0.05) and with left ventricular internal dimension (r = 0.2, p < 0.01 and r = 0.32, p < 0.05) but not significantly with PWT and IVST. We conclude that, in sickle cell patients, the electrocardiographic LVH mainly indicates the existence of an eccentric echocardiographic LVH with increase of left ventricular internal dimension.

Raddioactive fucose as a tool for studying glycoprotein secretion

The efficiency and reliability of radioactive fucose as a specific label for newly synthesized glycoproteins were investigated. Young adult male rabbits were injected intravitreally with [3H]-fucose, [3H]-galactose, [3H]-mannose, N-acetyl-[3H]-glucosamine or N-acetyl-[3H]-mannosamine, and killed 40 h after injection. In another series of experiments rabbits were injected with either [3H]-fucose or several tritiated amino acids and the specific activity of the vitreous proteins was determined. Vitreous samples were also processed by sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE) and histological sections of retina, ciliary body and lens (the eye components around the vitreous body) were processed for radioautography. The specific activity (counts per minute per microgram of protein) of the glycoproteins labeled with [3H]-fucose was always much higher than that of the proteins labeled with any of the other monosaccharides or any of the amino acids. There was a good correlation between the specific activity of the proteins labeled by any of the above precursors and the density of the vitreous protein bands detected by fluorography. This was also true for the silver grain density on the radioautographs of the histological sections of retina, ciliary body and lens. The contribution of radioautography (after[3H]-fucose administration) to the elucidation of the biogenesis of lysosomal and membrane glyco-proteins and to the determination of the intracellular process of protein secretion was reviewed. Radioactive fucose is the precursor of choice for studying glycoprotein secretion because it specific, efficient and practical for this purpose.

Plasma fibronectin kinetics during uncomplicated acute myocardial infarction

Plasma fibronectin (Fbn) was assessed daily in 9 men admitted to the cardiology care unit for uncomplicated acute myocardial infarction (AMI). In a control group of twenty healthy men, plasma Fbn was 0.290ñ 0.0417g/l-1 (meanñSD). In 6 hypertensive AMI patients, Fbn levels were increased to a maximum of 0.461ñ0.0294 g/l-1 at day five (5.5 ñ 0.84 days) and returned to the range of the control group values 56 ñ 32.8 afterwards. Three normotensive patients had higher Fbn results without returning to the control group range at the end of the hospitalization (0.734 ñ 0.209 gl-1). Plasma Fbn could in part be implicated in the repair process and/or in the limitation of the cardiac necrosis extension. Moreover, it seems that a link exists between plasma Fbn kinetics and hypertension and/or normotension during uncomplicated AMI.