RESUMEN
OBJECTIVE: Joubert syndrome (JS) and related disorders (JSRD) (OMIM #213300) are a group of developmental delay/multiple congenital anomalies syndromes in which the pathognomonic "the molar tooth sign" (MTS) is present, is caused by the defects in the structure or function of the primary cilium. Liver disease is observed in minority of JSRD, usually manifesting as congenital hepatic fibrosis (CHF). In this paper we report a child with JSRD in whom signs of portal hypertension and chronic liver disease appeared and in the follow-up nephrologic features were added to her clinical signs. CONCLUSIONS: The physicians must be aware of this disorder in the differential diagnosis of portal hypertension of unknown origin.
Asunto(s)
Cerebelo/anomalías , Hipertensión Portal/diagnóstico , Hipertensión Portal/etiología , Retina/anomalías , Anomalías Múltiples/diagnóstico , Niño , Discapacidades del Desarrollo/complicaciones , Discapacidades del Desarrollo/diagnóstico , Anomalías del Ojo/complicaciones , Anomalías del Ojo/diagnóstico , Femenino , Enfermedades Genéticas Congénitas/complicaciones , Enfermedades Genéticas Congénitas/diagnóstico , Humanos , Enfermedades Renales Quísticas/complicaciones , Enfermedades Renales Quísticas/diagnóstico , Cirrosis Hepática/complicaciones , Cirrosis Hepática/diagnósticoRESUMEN
BACKGROUND/OBJECTIVES: Structural and functional impairments of the Achilles tendon in diabetic patients has the potential to contribute to ulcer formation through altered foot mechanics. This study aimed to examine the biomechanical and histopathological alterations in Achilles tendon specimens from diabetic vs. non-diabetic individuals. MATERIALS AND METHODS: 42 Achilles tendon samples obtained from patients treated with below-knee or above-knee amputation for chronic diabetic foot ulcers (n=21) or for non-diabetic conditions (n=21) were included. A tensile test was performed for each tendon and a stress vs. strain graft was obtained to calculate following biomechanical parameters: elasticity (Young modulus), load, stiffness, toughness, energy, strain, elongation and tenacity. Groups were also compared with regard to histopathological findings (inflammatory cell infiltration, collagen organization, and degeneration). RESULTS: Non-diabetic tendons exhibited a superior biomechanical profile over diabetic tendons with regard to the following biochemical parameters: elasticity, maximum load, stiffness, toughness, load, energy, strain and elongation at break point, tenacity, and strain at automatic load drop (p<0.05 for all comparisons). Diabetic tendons had mild impairment of collagen organization and focal collagen degeneration, whereas neither diabetic nor non-diabetic tendons had inflammatory cell infiltration. CONCLUSION: The structural and functional alterations associated with diabetes adversely affect the biomechanical properties of the Achilles tendon, potentially acting together with neuropathy and ischemia in the development of diabetic foot ulcers.
Asunto(s)
Tendón Calcáneo , Pie Diabético , Tendón Calcáneo/patología , Tendón Calcáneo/fisiopatología , Adulto , Anciano , Anciano de 80 o más Años , Amputación Quirúrgica , Fenómenos Biomecánicos , Pie Diabético/patología , Pie Diabético/fisiopatología , Femenino , Humanos , Masculino , Persona de Mediana EdadRESUMEN
Management of multidrug-resistant Acinetobacter baumannii (MDRAB) meningitis/ventriculitis is a difficult therapeutic problem owing to the limited penetration of antibiotics into cerebrospinal fluid (CSF). A 2-month-old girl with ventriculitis caused by MDRAB is reported. Despite therapy with intravenous (IV) colistin ventricular fluid, cultures remained positive for MDRAB. Institution of combination therapy with IV and intraventricular colistin resulted in a successful clinical and microbiological outcome. Intraventricular/intrathecal and IV colistin might be the best therapeutic option in the treatment of central nervous system infection caused by MDRAB. Further studies are required to evaluate pharmacokinetic and pharmacodynamic parameters of combined IV and intraventricular/intrathecal colistin administration, especially in children.
Asunto(s)
Infecciones por Acinetobacter/tratamiento farmacológico , Acinetobacter baumannii , Antibacterianos/administración & dosificación , Colistina/administración & dosificación , Encefalitis/tratamiento farmacológico , Meningitis Bacterianas/tratamiento farmacológico , Infecciones por Acinetobacter/microbiología , Acinetobacter baumannii/efectos de los fármacos , Ventrículos Cerebrales , Farmacorresistencia Bacteriana Múltiple , Encefalitis/microbiología , Femenino , Humanos , Lactante , Inyecciones Intraventriculares , Resultado del TratamientoRESUMEN
Rhabdomyomas are the most common primary cardiac tumors in childhood, and are often associated with tuberous sclerosis. We report a huge rhabdomyoma in an asymptomatic four hour old infant who presented initially with a murmur due to moderate subaortic stenosis. Followup showed regression of the tumour. Although the indications for surgical resection of symptomatic tumors are well established, medical follow-up should be the prefered treatment.