ABSTRACT
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.
Subject(s)
CADASIL/genetics , Mutation , Receptor, Notch3/genetics , CADASIL/diagnosis , CADASIL/mortality , CADASIL/therapy , Chile , Genetic Predisposition to Disease , Heredity , Humans , Male , Middle Aged , Pedigree , Phenotype , Prognosis , Risk FactorsABSTRACT
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.
Subject(s)
Creutzfeldt-Jakob Syndrome/diagnosis , 14-3-3 Proteins/cerebrospinal fluid , Aged , Autopsy , Electroencephalography , Fatal Outcome , Humans , Magnetic Resonance Imaging , MaleABSTRACT
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.
Subject(s)
Humans , Male , Aged , Creutzfeldt-Jakob Syndrome/diagnosis , Autopsy , Magnetic Resonance Imaging , Fatal Outcome , 14-3-3 Proteins/cerebrospinal fluid , ElectroencephalographyABSTRACT
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.
Subject(s)
Developmental Disabilities/epidemiology , Hospitalization/statistics & numerical data , Mental Disorders/epidemiology , Mothers , Adolescent , Adult , Case-Control Studies , Child , Chile/epidemiology , Female , Humans , Infant, Newborn , Interdisciplinary Communication , Male , Pregnancy , Risk Factors , Sex Factors , Young AdultABSTRACT
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.
Subject(s)
Humans , Male , Female , Pregnancy , Infant, Newborn , Child , Adolescent , Adult , Young Adult , Developmental Disabilities/epidemiology , Hospitalization/statistics & numerical data , Mental Disorders/epidemiology , Mothers , Case-Control Studies , Chile/epidemiology , Sex Factors , Risk Factors , Interdisciplinary CommunicationABSTRACT
No disponible
Subject(s)
Humans , Cholecystectomy, Laparoscopic/methods , Gallbladder Diseases/surgery , Minimally Invasive Surgical Procedures/methods , Ambulatory Surgical Procedures/methods , Patient Selection , Clinical ProtocolsABSTRACT
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.
Subject(s)
Cysts/surgery , Laparoscopy/methods , Splenic Diseases/surgery , Adult , Cysts/diagnostic imaging , Cysts/pathology , Female , Humans , Male , Splenic Diseases/diagnostic imaging , Splenic Diseases/pathology , Tomography, X-Ray Computed , Treatment OutcomeSubject(s)
Castleman Disease , Laparoscopy , Adult , Castleman Disease/diagnosis , Castleman Disease/surgery , Female , HumansABSTRACT
No disponible
Subject(s)
Female , Adult , Humans , Castleman Disease/diagnosis , Laparoscopy , Castleman Disease/surgeryABSTRACT
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.
Subject(s)
Laparoscopy , Omentum , Peritoneal Diseases/surgery , Abdominal Pain/etiology , Adult , Female , Humans , Male , Middle Aged , Torsion AbnormalityABSTRACT
No disponible
