NOTCH3 Gene Mutation in a Chilean Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Family.

INTRODUCTION: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare hereditary stroke disorder caused by mutations in the NOTCH3 gene. We report the first Chilean CADASIL family with complete radiological and histological studies. METHODS: The family tree was constructed from an autopsy-confirmed confirmed patient, and includes 3 generations. We performed clinical, pathologic, genetic, and radiologic examinations on members of a family with CADASIL. RESULTS: In the second generation, findings compatible with CADASIL were identified in 6 individuals, all of whom had a missense mutation in exon 3 (c.268C>T) resulting in an arginine to cysteine amino acid substitution at position 90 (R90C). In the third generation, a missense mutation was detected in one of the 4 asymptomatic individuals. CONCLUSIONS: There are similarities in clinical presentation between this family and previously described Asian and European series with R90C mutations. Detecting genotypes with a gain or loss of cysteine residues opens the door to future gene transfection-based therapies.

[Creutzfeldt-Jakob disease: Report of one case]. / Desafíos en el diagnóstico de enfermedad de Creutzfeldt-Jakob: Caso clínico.

Creutzfeldt-Jakob disease has a higher incidence in Chile than in other countries. The post mortem pathological characterization of brain tissue is necessary to reach a definitive diagnosis. We report a 73 years old man with a history compatible with of a rapidly progressive dementia, in which the first electroencephalographic study showed a pattern consistent with non-convulsive status epilepticus. Besides discarding this diagnosis, it was necessary to rule out other causes of rapidly progressive dementia such as Hashimoto encephalopathy. Finally, the sustained clinical deterioration with no response to anticonvulsants and corticosteroids, the imaging studies, a serial electroencephalographic monitoring study and the detection of 14-3-3 protein in cerebrospinal fluid were the keys to achieve the diagnosis of the disease.

Desafíos en el diagnóstico de enfermedad de Creutzfeldt-Jakob: caso clínico / Creutzfeldt-Jakob disease: report of one case

Creutzfeldt-Jakob disease has a higher incidence in Chile than in other countries. The post mortem pathological characterization of brain tissue is necessary to reach a definitive diagnosis. We report a 73 years old man with a history compatible with of a rapidly progressive dementia, in which the first electroencephalographic study showed a pattern consistent with non-convulsive status epilepticus. Besides discarding this diagnosis, it was necessary to rule out other causes of rapidly progressive dementia such as Hashimoto encephalopathy. Finally, the sustained clinical deterioration with no response to anticonvulsants and corticosteroids, the imaging studies, a serial electroencephalographic monitoring study and the detection of 14-3-3 protein in cerebrospinal fluid were the keys to achieve the diagnosis of the disease.

[Developmental disorders in children and adolescents of the Los Ríos region, Valdivia, Chile, 2006-2008]. / Trastornos del desarrollo en niños y adolescentes de la región de Los Ríos, Valdivia, Chile, 2006-2008.

OBJECTIVES: To study possible findings of factors in the antenatal, perinatal or postnatal period, in the mother or the child that may have an influence on the appearance of a developmental disorder. PATIENTS AND METHOD: A Data Base of Clinical Histories from every patient with a developmental disorder (F80-F90 ICD10) was created. The patients attended the Child Psychiatric Unit at Hospital Regional of Valdivia, Chile, from August 2006 to December 2008. Total: 493 patientes (48.7% of the total of patients consulting); CONTROL GROUP: 32 healthy patients. STATISTICAL METHOD: odds ratio (95% confidence). RESULTS: The main risk factors for developing a developmental disorder (P<.005, 25% frequency in the consulting population) are: prematurity, male sex, mother with low education, early hospitalizations, and medical illnesses (all with a significant odds ratio). Also, having a mother with psychiatric illness doubles the risk of having a developmental disorder. CONCLUSION: It requires an interdisciplinary collaborative work between neonatologists, obstetricians, child psychiatrists and the primary care to detect early children at risk.

Trastornos del desarrollo en niños y adolescentes de la región de Los Ríos, Valdivia, Chile, 2006-2008 / Developmental disorders in children and adolescents of the Los Ríos region, Valdivia, Chile, 2006-2008

Objetivo: Estudiar los posibles hallazgos de factores asociados antenatales, perinatales o posnatales, tanto de la madre como del niño, que tengan relevancia significativa en la aparición de trastornos del desarrollo. Pacientes y método: Se creó una base de datos de todas las fichas clínicas de los pacientes con patología del desarrollo F80 a F90 CIE10 ingresados a la Unidad de Psiquiatría Infantil del Hospital Regional de Valdivia entre agosto de 2006 y diciembre de 2008. Total: 493 pacientes (48,7% del total de consultantes); grupo control de 32 niños sanos de consultorios de la ciudad. Se aplicó método estadístico odds ratio (95% confianza) para el análisis de algunas variables. Resultados: Destacan como factores de riesgo para desarrollar patología del desarrollo (p < 0,005, 25% de frecuencia en población consultante): la prematurez, ser de sexo masculino, tener una madre con baja escolaridad, hospitalizaciones tempranas y enfermedades médicas antes de los 3 años (todos con odds ratio significativa). Además tener una madre psiquiátrica aumenta el doble el riesgo de desarrollar trastorno del desarrollo. Conclusión: Se requiere un trabajo colaborativo interdisciplinario entre neonatólogos, obstetras, psiquiatras infantiles y la atención primaria para detectar precozmente niños en riesgo.

Objectives: To study possible findings of factors in the antenatal, perinatal or postnatal period, in the mother or the child that may have an influence on the appearance of a developmental disorder. Patients and method: A Data Base of Clinical Histories from every patient with a developmental disorder (F80-F90 ICD10) was created. The patients attended the Child Psychiatric Unit at Hospital Regional of Valdivia, Chile, from August 2006 to December 2008. Total: 493 patientes (48.7% of the total of patients consulting); Control group: 32 healthy patients. Statistical method: odds ratio (95% confidence). Results: The main risk factors for developing a developmental disorder (P < .005, 25% frequency in the consulting population) are: prematurity, male sex, mother with low education, early hospitalizations, and medical illnesses (all with a significant odds ratio). Also, having a mother with psychiatric illness doubles the risk of having a developmental disorder. Conclusion: It requires an interdisciplinary collaborative work between neonatologists, obstetricians, child psychiatrists and the primary care to detect early children at risk.

Fast-track o cirugía mayor ambulatoria en la colecistectomía laparoscópica. ¿Ha cambiado algo? / Fast-track of ambulatory surgery in laparoscopic cholecystectomy. Has anything changed?

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Partial laparoscopic decapsulation of splenic cysts: long-term results.

The aim of this study was to evaluate the role of laparoscopic decapsulation in the management of splenic cysts. Cystic disease of spleen is an infrequent entity. Laparoscopic surgery should be considered as the method of choice for the greater of patients diagnosed with a splenic cyst. We provide 2 new cases of splenic cysts treated with partial laparoscopic decapsulation using harmonic scalpel. The patients were examined 5 years later and no cysts recurrence was found.

Enfermedad de Castleman unicéntrica. Utilidad de la laparoscopia en su diagnóstico y tratamiento / Unicentric Castleman’s disease. Utility of laparoscopy in its diagnosis and treatment

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Torsion of the greater omentum: treatment by laparoscopy.

Four new cases of necrosis of the omentum secondary to torsion are reported. We review the associated signs and symptoms, which are usually those of an acute inflammatory condition in the right lower quadrant (RLQ), very similar to acute appendicitis. Because of acute abdominal pain in the RLQ, along with an uncertain diagnosis, laparoscopic surgery was performed in these cases. Laparoscopy demonstrated the existence of the omental infarction and allowed for complete treatment of the condition without the need for laparotomy.

Uso del sedal en el tratamiento de la galactoforitis crónica supurativa recidivante / Suture use in the treatment of chronic recurrent suppurative galactophoritis

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