Tratamiento ortodóncico de camuflaje de una maloclusión de Clase III. Reporte de caso / Orthodontic camouflage treatment of Class III malocclusion. Case report

Desde el punto de vista ortodóncico y maxilofacial, una maloclusión con desarmonía esqueletal compleja, puede ser abordada con un enfoque ortopédico, ortodóncico y/o or- toquirúrgico; sin embargo, en pacientes adultos que rechazan la opción quirúrgica, la or- todoncia de camuflaje es la única opción disponible. Este artículo reporta el tratamiento de camuflaje ortodóncico de un paciente masculino de 21 años y 2 meses con un patrón esquelético de Clase III ángulo bajo, mordida bis a bis y tercio facial inferior disminuido. El uso de un arco utilitario de protrusión, bloques de acrílico posterior, elásticos inter- maxilares de clase III, arco multiloops y stripping inferior fueron utilizados. Después de 26 meses de tratamiento, se logró una relación molar y canina de Clase I, overbite y overjet funcional, reducción de la proyección del labio inferior y mayor exposición de incisivos superiores en sonrisa con un perfil facial más agradable. Se realizó un control de 11 meses postratamiento revelando estabilidad de los resultados obtenidos.

From the orthodontic and maxillofacial point of view, a malocclusion with a severe skel- etal disharmony can be treated with an orthopedic, orthodontic and/or orthognathic approach; however, some adult patients reject the surgical option, in those cases, ortho- dontic camouflage might be the only alternative. This article reports the orthodontic camouflage of a 21 year and 2 months old male patient with a Class III low angle skeletal pattern, edge to edge anterior bite relationship and decresead lower facial third. A mod- ified utility arch, posterior acrylic bite block, Class III intermaxillary elastics, multiloop archwire and lower interproximal reduction were used. After 26 months of treatment, Class I molar and canine relationship with functional overbite and overjet was achieved. In addition, reduction of lower lip protrusion, greater exposure of upper incisors at smile and a pleasant facial profile was obtained. 11 months follow up reveals stability of the results.

Diagnostic anoctamin-5 protein defect in patients with ANO5-mutated muscular dystrophy.

AIMS: Previously, detection of ANO5 protein has been complicated by unspecific antibodies, most of which have not identified the correct protein. The aims of the study were to specify ANO5 protein expression in human skeletal muscle, and to investigate if the ANO5 protein levels are affected by different ANO5 mutations in anoctaminopathy patients. METHODS: Four different antibodies were tested for ANO5 specificity. A sample preparation method compatible with membrane proteins, combined with tissue fractionation was used to determine ANO5 expression in cell cultures expressing ANO5, in normal muscles and eight patient biopsies with six different ANO5 mutations in homozygous or compound heterozygous states, and in other dystrophies. RESULTS: Only one specific monoclonal N-terminal ANO5 antibody was efficient in detecting the protein, showing that ANO5 is expressed as a single 107 kD polypeptide in human skeletal muscle. The truncating mutations c.191dupA and c.1261C>T were found to abolish ANO5 expression, whereas the studied point mutations had variable effects; however, all the ANO5 mutations resulted in clearly reduced ANO5 expression in the patient muscle membrane fraction. Attempts to detect ANO5 using immunohistochemistry were not yet successful. CONCLUSIONS: The data presented here indicate that the ANO5 protein expression is decreased in ANO5-mutated muscular dystrophy and that most of the non-truncating pathogenic ANO5 mutations likely destabilize the protein and cause its degradation. The method described here allows direct analysis of human ANO5 protein, which can be used in diagnostics, for evaluating the pathogenicity of the potentially harmful ANO5 variants of uncertain significance.

Spanish MYH7 founder mutation of Italian ancestry causing a large cluster of Laing myopathy patients.

Laing myopathy is a distal myopathy caused by mutations in the tail of the slow beta-myosin heavy chain gene MYH7. A large cluster of patients belonging to different families, with Laing myopathy due to p.K1729del mutation, was found in the Safor region, Spain. The same mutation was previously reported in an American family with Italian ancestry. The possibility that p.K1729del in MYH7 might be a founder mutation in the Safor patients and the chance of a common origin with the Italian-American family mutation was investigated by haplotype analyses, mutation data origin estimation and historical inquiry. Our results show that the p.K1729del in MYH7 harboured by patients from the Safor indeed is a founder mutation. A common ancestral origin of this mutation in the Spanish and Italian families is also suggested because they all share a core SNP haplotype at locus MYH7. Data estimation yields the origin of the mutation in the Safor at the beginning of the XVII century, when the Moorish were spelt and the region was resettled with Italian families.

Alta frecuencia de pancreatitis aguda asociada a patología biliar en niños chilenos / Elevated frequency of acute pancreatitis associated to biliary illness in Chilean children

Acute Pancreatitis (AP) in children presents significant morbimortality. Most common etiologies in this age group are trauma, systemic illness and idiopathic pancreatitis. This is different from adult AP, where lithiasis and alcohol consumption are the predominant causes. In Chile, where billiary disease is highly prevalent, there is little information regarding AP among children. Objective: To determine the main clinical characteristics of acute pancreatitis in a group of Chilean children. Patients and Methods: A retrospective study (1998-2008) of patients hospitalized with the diagnosis of AP. The diagnosis was confirmed by elevation of pancreatic enzymes and through images. Demographic data, etiology, complications and resolutions, need for parenteral nutrition, and use of antibiotics were examined. Results: Eighteen patients were identified (8,3 +/- 4 y.o.). Etiology of AP was listed as: lithiasis and alterations of biliary duct: 38,8 percent, idiopathic: 22,2 percent, secondary to medications: 22,2 percent and other: 16.8 percent. Two patients presented peripancreatic infected collections; a similar number formed pancreatic pseudocysts. Six patients (33,3 percent) required one type of surgical procedure as part of their treatment. Two-thirds of all patients required treatment in ICU. One half of the patients required parenteral nutrition, and two thirds received IV antibiotics. The median length of hospital stay was 20 days (ave 24,9 +/- 14,3 ds). There was no mortality in this serie. Conclusions: Unlike previously described, biliary AP was the most common cause in this serie. Biliary pathology should be actively studied among Chilean children with AP.

La pancreatitis aguda (PA) en niños presenta una morbimortalidad considerable. Las etiologías más frecuentes en este grupo etario son la PA secundaria a trauma, por enfermedades sistémicas y la PA idiopática, a diferencia de la población adulta en que predomina la litiasis biliar y el consumo de alcohol. En Chile, donde la patología biliar es altamente prevalente, existe escasa información clínica respecto de la PA en niños. Objetivo: Determinar las características clínicas de la pancreatitis aguda en un grupo de niños chilenos. Método: Estudio retrospectivo (1998-2008) de pacientes hospitalizados con PA. Se confirmó el diagnóstico por elevación de enzimas pancreáticas e imágenes; se obtuvieron los datos demográficos y se analizó: etiología, complicaciones y su resolución, necesidad de nutrición parenteral y uso de antibióticos. Resultados: Se identificaron 18 pacientes (8,3 +/- 4 años). Etiología de la PA: litiasis y alteraciones anatómicas de la vía biliar (38,8 por ciento), idiopática (22,2 por ciento), drogas (22,2 por ciento), otras (16.8 por ciento). Dos pacientes presentaron colecciones peripancreáticas infectadas; igual número evolucionó con formación de pseudoquistes pancreáticos. Seis pacientes (33,3 por ciento) requirieron algún tipo de procedimiento quirúrgico como parte de su tratamiento. Dos tercios de los pacientes ingresaron a la Unidad de Pacientes Críticos. La mitad de los pacientes recibió nutrición parenteral y dos tercios antibióticos endovenosos. La mediana de hospitalización fue de 20 días (promedio 24,9 +/- 14,3 días). No hubo mortalidad en la serie. Conclusiones: A diferencia de lo descrito en la literatura, la PA biliar fue la etiología más frecuente en esta serie. La patología biliar debe ser estudiada activamente en niños chilenos con PA.

MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy.

OBJECTIVE: To describe a wide range of clinical and pathologic myopathic profiles associated with the p.K1729del mutation in the MYH7 gene, known to cause Laing distal myopathy. METHODS: A study conducted in the Safor region (Spain), setting of a large cluster of patients. Clinical, neurophysiologic, muscle imaging, and muscle biopsy studies and MYH7 gene sequencing were investigated in 32 patients from 4 kindreds. Data from 36 deceased or nonexamined patients were collected from hospital records or relatives. RESULTS: Onset ranged from congenital to the 6th decade. All patients presented weakness of great toe/ankle dorsiflexors and many had associated neck flexor, finger extensor, and mild facial weakness. In most cases, involvement of proximal and axial muscles was observed either clinically or by muscle imaging, sometimes giving rise to scapuloperoneal and limb-girdle syndromes. Disabling myalgias, skeletal deformities, and dilated cardiomyopathy in one patient were associated features. Life expectancy was not reduced but the spectrum of disability ranged from asymptomatic to wheelchair confined. Electromyographic neurogenic features were frequently recorded. Muscle fiber type disproportion, core/minicore lesions, and mitochondrial abnormalities were the most relevant pathologic alterations. All patients carried the p.K1729del mutation in MYH7. CONCLUSIONS: The p.K1729del mutation in the MYH7 gene expresses notable clinical variability and electromyographic and pathologic features that can lead to the misdiagnosis of neurogenic atrophies, congenital myopathies, or mitochondrial myopathies. Mutations in genes encoding other sarcomeric and reticulo-sarcoplasmic proteins involved in calcium regulation share pathologic characteristics with our patients, suggesting a possible pathogenetic connection.

Síndrome de regresión caudal: caso clínico / Caudal regression syndrome: clinical case and update

Caudal regression is a rare congenital malformation which includes a wide spectrum of musculoskeletal abnormalities involving the lumbosacral spine, pelvis and lover limbs. It can be associated to visceral defects (gastrointestinal, genitourinary, cardiac or neurological) in various degrees. The etiology is not yet clear, but maternal diabetes, genetic predisposition, and vascular hypoperfusion are suspected. Objective: Describe a case of exceptional extension, including first year evolution. Clinical Case: A male newborn, term, was diagnosed before birth. Mother is a Type 2 diabetic. Physical exam and images confirm the diagnosis, show presence of 7 cervical vertebrae, 8 thoracic, agenesia of distal dorsal and lumbosacral spine. No spinal disraphia, medular conus at D2. Conclusion: The reported case shows that early diagnosis and multidisciplinary evaluation of the patient are essential elements to decrease complications and improve prognosis.

Antecedentes: El síndrome de regresión caudal es una malformación congénita poco frecuente, caracterizada por un amplio espectro de anormalidades musculoesqueléticas que comprometen columna lumbosacra, pelvis y extremidades inferiores. Se puede asociar a diversos defectos viscerales (gastrointestinales, genitourinarios, cardíacos y neurológicos) presentes en distintos grados según la severidad del caso. Su etiología aún no se encuentra bien dilucidada, pero se sospecha que la diabetes materna, la predisposición genética y la hipoperfusión vascular serían algunos de los factores involucrados en su patogénesis. Objetivo: Dar a conocer un caso de regresión caudal de extensión excepcional y describir su evolución durante el primer año de vida. Caso clínico: Se presenta el caso de un recién nacido de término, sexo masculino, hijo de madre diabética tipo 2, con diagnóstico antenatal de síndrome de regresión caudal. El examen físico y las imágenes confirman el diagnóstico y muestran la presencia de siete cuerpos vertebrales cervicales y sólo ocho torácicos, con agenesia de columna dorsal distal y lumbosacra, sin disrrafia espinal y cono medular en nivel de D2. Conclusión: El caso reportado demuestra que tanto el diagnóstico precoz como la evaluación multidisciplinaria del paciente, son pilares esenciales para disminuir el riesgo de complicaciones asociadas y mejorar su pronóstico.

Síndrome de Poland y alteración de la migración neuronal: reporte de un caso y revisión de la literatura / Poland syndrome and neuronal migration: case report and review of the literature

Poland Syndrome is a rare congenital alteration. It is characterized by hypoplasia or absence of the pectoral muscle, hypoplasia or aplasia of the mammary gland, nipple, ribs or cartilages, and hand malformations. A case is reported of a girl showing these malformations, and neuronal migration abnormalities. Emphasis is made upon the need for a multidisciplinary team for management and rehabilitation. A literature review is presented, including pathogenesis, clinical manifestations and treatment.

El Síndrome de Poland es una alteración congénita de baja frecuencia y de carácter esporádico. Se caracteriza por ausencia o hipoplasia del músculo pectoral; hipoplasia o aplasia de glándula mamaria, pezón, costillas o cartílagos, y malformaciones de la mano. Se reporta el caso de una recién nacida con Secuencia de Poland con trastorno de migración neuronal. Se hace énfasis en la necesidad de un equipo multidisciplinario en su manejo y rehabilitación. Se presenta una revisión de la literatura con especial énfasis en la patogenia, manifestaciones clínicas y tratamiento.