RESUMEN
PURPOSE: This study aimed to conduct a diagnostic and cost-effective analysis of the cytopathology assistance in the ultrasound (US)-guided fine-needle aspiration biopsy (FNAB) for characterising thyroid nodules. MATERIALS AND METHODS: We reviewed the reports relative to 9061 US-guided FNABs for the histologic definition of the nature of thyroid nodules: 45.4% completed with the cytopathologist assistance and 54.6% by the radiologist alone. We also performed the cost-effectiveness analysis (CEA) of the procedure with and without the cytopathologist assistance. RESULTS: We found a significant positive correlation between the adoption/non-adoption of cytopathologist assistance and the number of indeterminate (TIR1) (Chi-square; z-score, Z = 10.22; critical value 5%, C = 1.96; p < 0.001). The cytopathologist's absence was correlated with the number of TIR 1 (Pearson correlation, product-moment correlation r = 0.059; critical value 5%, C = 0.008; p < 0.001). The total cost of the model's cytopathologist-assistance branch is 109.87, while the total cost of the non-cytopathologist-assistance branch is 95.08. CONCLUSION: The cytopathologist assistance resulted in fewer nondiagnostic results, thus excluding the procedure's repetition but involved a higher expense, mainly due to the professional cost of the pathologist's participation. These data may provide decision-makers in healthcare with a practical evidence based on the opportunity to include the cytopathologist assistance in the thyroid nodule's FNAB depending on the available resources and the population's expectance.
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Infecciones por Coronavirus/complicaciones , Hiponatremia/complicaciones , Interleucina-6/sangre , Neumonía Viral/complicaciones , Adulto , Anciano , Anciano de 80 o más Años , COVID-19 , Infecciones por Coronavirus/terapia , Femenino , Humanos , Masculino , Persona de Mediana Edad , Pandemias , Neumonía Viral/terapia , Estudios Retrospectivos , Sodio/sangre , Resultado del TratamientoRESUMEN
Pompe disease is a metabolic myopathy, due to deficiency of alpha glucosidase, with a wide clinical spectrum. Enzyme replacement therapy is the only available treatment to improve morbidity and mortality, especially in infantile-onset form. However, some patients experience infusion-associated reactions, which may restrict their access to this treatment. We report on two patients (respectively 12 and 3 months old) with infantile-onset Pompe disease and severe cardiomyopathy, that presented with severe reactions during infusion of enzyme replacement therapy and were successfully desensitized with a new individualized protocol. Our protocol, using microdilution and a premedication with antihistamines, corticosteroids, and tranexamic acid, seems safe and effective and it may allow the continuation of therapy in Pompe patients resulting in the reduction of morbidity and mortality related to this disease.
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Enfermedad del Almacenamiento de Glucógeno Tipo II/terapia , Terapia de Reemplazo de Hormonas/métodos , alfa-Glucosidasas/administración & dosificación , alfa-Glucosidasas/efectos adversos , Desensibilización Inmunológica , Enfermedad del Almacenamiento de Glucógeno Tipo II/enzimología , Enfermedad del Almacenamiento de Glucógeno Tipo II/inmunología , Humanos , Lactante , MasculinoRESUMEN
BACKGROUND: The increasing frequency in the diagnosis of thyroid nodules has raised a growing interest in the search for new diagnostic tools to better select patients deserving surgery. In 2014, the major Italian Societies involved in the field drafted a new cytological classification, to better stratify pre-surgical risk of thyroid cancer, especially for the indeterminate category, split into TIR3A and TIR3B subclasses, associated to different therapeutic decisions. MATERIALS AND METHODS: This retrospective cross-sectional survey analyzed thyroid fine-needle aspiration biopsy performed at our outpatient clinic before and after the introduction of the new SIAPEC-IAP consensus in May 2014. RESULTS: 8956 thyroid nodules were included in the analysis: 5692 were evaluated according to the old classification and 3264 according to the new one. The new criteria caused the overall prevalence of TIR3 to increase from 6.1 to 20.1%. Of those, 10.7 and 9.4% were included in the TIR3A and TIR3B subgroups, respectively. Each of the 213 TIR3B nodules underwent surgery and 86 (40.4%) were diagnosed as thyroid cancer, while among the 349 TIR3A nodules, only 15 of the 60 that underwent surgery were found to be thyroid cancer. CONCLUSIONS: This analysis shows that the new SIAPEC-IAC criteria significantly increased the proportion of the overall TIR3 diagnosis. The division of TIR3 nodules into two subgroups (A and B) allowed a better evaluation of the oncologic risk and a better selection of patients to be referred to surgery.
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Academias e Institutos/normas , Internacionalidad , Sociedades Médicas/normas , Nódulo Tiroideo/clasificación , Nódulo Tiroideo/diagnóstico por imagen , Estudios Transversales , Femenino , Humanos , Italia/epidemiología , Masculino , Estudios Retrospectivos , Neoplasias de la Tiroides/clasificación , Neoplasias de la Tiroides/diagnóstico por imagen , Neoplasias de la Tiroides/epidemiología , Nódulo Tiroideo/epidemiologíaRESUMEN
Alpha-dystroglycanopathies are a group of progressive and untreatable neuromuscular disorders, due to aberrant alpha-dystroglycan glycosylation. We describe the effects of a short-term cycle of corticosteroid therapy in a 9-year-old boy, affected by an alpha-dystroglycanopathy due to GMPPB gene mutations. The patient was affected by a congenital progressive muscular dystrophy since the first month of life, associated with psychomotor delay, seizures, and congenital bilateral cataracts. Despite physical therapy he had a progressive motor impairment. At the age of 9 years, he was treated with 0.75â¯mg/kg/day of prednisone for 3 months and showed improvements in muscle strength and function scores and creatine kinase reduction. When steroid therapy was discontinued he showed again clinical and biochemical deterioration. These data suggest that corticosteroid may be considered as a treatment for patients with alpha-dystroglycanopathies due to GMPPB mutations.
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Corticoesteroides/uso terapéutico , Mutación , Nucleotidiltransferasas/genética , Síndrome de Walker-Warburg/tratamiento farmacológico , Niño , Distroglicanos/metabolismo , Glicosilación , Humanos , Masculino , Resultado del Tratamiento , Síndrome de Walker-Warburg/genéticaAsunto(s)
Endocrinología/normas , Hiponatremia/terapia , Oncología Médica/normas , Nefrología/normas , Adulto , Edad de Inicio , Anciano , Anciano de 80 o más Años , Consenso , Endocrinología/métodos , Endocrinología/organización & administración , Humanos , Hiponatremia/diagnóstico , Hiponatremia/epidemiología , Hiponatremia/etiología , Italia , Cirrosis Hepática/complicaciones , Cirrosis Hepática/diagnóstico , Cirrosis Hepática/terapia , Oncología Médica/métodos , Oncología Médica/organización & administración , Nefrología/métodos , Nefrología/organización & administración , Neurología/métodos , Neurología/normas , Procedimientos Neuroquirúrgicos/métodos , Procedimientos Neuroquirúrgicos/normas , Prevalencia , Sociedades Médicas/organización & administración , Sociedades Médicas/normasRESUMEN
PURPOSE: The aim of the present study was to evaluate the role of hypothyroidism as a cause of hyponatremia in a clinical model of iatrogenic acute hypothyroidism due to thyroid hormone withdrawal prior to ablative radioactive iodine (RAI) therapy after total thyroidectomy. METHODS: The study group consisted of 101 differentiated thyroid cancer (DTC) patients (77 women and 24 men). Plasma concentration of thyroid-stimulating hormone ([TSH]) and sodium ([Na+]) was evaluated before total thyroidectomy (pre[TSH] and pre[Na+]) and on the day of RAI therapy (post[TSH] and post[Na+]). RESULTS: The frequency of hypothyroidism-associated hyponatremia was 4 % (4/101). Pre[Na+] was significantly higher than post[Na+] (140.7 ± 1.6 vs 138.7 ± 2.3 mEq/L, p = 0.012). Moreover, a linear correlation was identified between pre[Na+] and post[Na+]. CONCLUSIONS: Iatrogenic acute hypothyroidism-related hyponatremia is uncommon. However, because of the significant reduction of [Na+] in the transition from euthyroidism to iatrogenic hypothyroidism, the value of pre[Na+] should be viewed as a parameter to be considered. Since it acts as an independent risk factor for the development of hyponatremia, patients with a pre[Na+] close to the lower limit of normal range may deserve a closer monitoring of [Na+].
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Hiponatremia/radioterapia , Hipotiroidismo/radioterapia , Radioisótopos de Yodo/uso terapéutico , Complicaciones Posoperatorias/radioterapia , Neoplasias de la Tiroides/cirugía , Tiroidectomía/efectos adversos , Enfermedad Aguda , Femenino , Humanos , Hiponatremia/etiología , Hipotiroidismo/etiología , Enfermedad Iatrogénica , Masculino , Persona de Mediana Edad , Pronóstico , Estudios Retrospectivos , Neoplasias de la Tiroides/complicacionesRESUMEN
We report the outcome of liver transplantation (LT) in the only surviving patient with lathosterolosis, a defect of cholesterol biosynthesis characterized by high lathosterol levels associated with progressive cholestasis, multiple congenital anomalies and mental retardation. From her diagnosis at age 2 she had shown autistic behavior, was unable to walk unaided and her sight was impaired by cataracts. By age 7 she developed end-stage liver disease. After a soul-searching discussion within the transplantation team, she was treated with LT as this represented her only lifesaving option. At 1-year follow-up, her lathosterol levels had returned to normal (0.61 mg/dL from 13.04 ± 2.65) and her nutrition improved. She began exploring her environment and walking by holding onto an adult's hand and then independently. Her brain magnetic resonance imaging (MRI) had shown a normal picture at age 1, whereas a volume reduction of white matter with ex vacuo ventricular dilatation and defective myelinization were observed before transplant. At 5-year follow-up, a complete biochemical recovery, an arrest of mental deterioration and a stable MRI picture were achieved, with a return to her every day life albeit with limitations. Timely liver transplant in defects of cholesterol biosynthesis might arrest the progression of neurological damage.
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Anomalías Múltiples/prevención & control , Discapacidad Intelectual/prevención & control , Trasplante de Hígado , Oxidorreductasas actuantes sobre Donantes de Grupo CH-CH/deficiencia , Errores Congénitos del Metabolismo Esteroideo/cirugía , Preescolar , Colesterol/metabolismo , Femenino , Humanos , Imagen por Resonancia Magnética , Oxidorreductasas actuantes sobre Donantes de Grupo CH-CH/metabolismo , Pronóstico , Errores Congénitos del Metabolismo Esteroideo/metabolismo , SíndromeRESUMEN
BACKGROUND: Glycogen storage disease type 1 (GSD1) is a rare and genetically heterogeneous metabolic defect of gluconeogenesis due to mutations of either the G6PC gene (GSD1a) or the SLC37A4 gene (GSD1b). Osteopenia is a known complication of GSD1. OBJECTIVES: The aim of this study was to investigate the effects of poor metabolic control and/or use of GSD1-specific treatments on bone mineral density (BMD) and metabolism in GSD1 patients. METHODS: In a multicenter, cross-sectional case-control study, we studied 38 GSD1 (29 GSD1a and 9 GSD1b) patients. Clinical, biochemical and instrumental parameters indicative of bone metabolism were analyzed; BMD was evaluated by dual-emission X-ray absorptiometry and quantitative ultrasound. RESULTS: Both GSD1a and GSD1b patients showed reduced BMD compared with age-matched controls. In GSD1a patients, these abnormalities correlated with compliance to diet and biochemical indicators of metabolic control. In GSD1b patients, BMD correlated with the age at first administration and the duration of granulocyte colony-stimulating factor (G-CSF) therapy. CONCLUSIONS: Our data indicate that good metabolic control and compliance with diet are highly recommended to improve bone metabolism in GSD1a patients. GSD1b patients on G-CSF treatment should be carefully monitored for the risk of osteopenia/osteoporosis.
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Enfermedades Óseas Metabólicas/inducido químicamente , Enfermedades Óseas Metabólicas/metabolismo , Huesos/metabolismo , Enfermedad del Almacenamiento de Glucógeno Tipo I/metabolismo , Factor Estimulante de Colonias de Granulocitos/uso terapéutico , Adolescente , Densidad Ósea , Enfermedades Óseas Metabólicas/epidemiología , Estudios de Casos y Controles , Niño , Estudios Transversales , Femenino , Enfermedad del Almacenamiento de Glucógeno Tipo I/dietoterapia , Enfermedad del Almacenamiento de Glucógeno Tipo I/tratamiento farmacológico , Enfermedad del Almacenamiento de Glucógeno Tipo I/epidemiología , Trastornos del Crecimiento/inducido químicamente , Trastornos del Crecimiento/epidemiología , Trastornos del Crecimiento/metabolismo , Humanos , Masculino , Cooperación del Paciente/estadística & datos numéricosRESUMEN
Mucopolysaccharidoses (MPSs) are lysosomal storage disorders caused by deficiency of enzymes involved in the degradation of glycosaminoglycans (GAGs). These disorders are associated with the accumulation of GAGs in tissues with organomegaly, mental retardation and short stature. Otologic and upper respiratory tract pathologies are among the earliest clinical manifestations. We analyzed 20 patients (13 male and 7 female, median age at the beginning of the observation 6 years) with MPS (35% type I, 30% type II, 20% type III, 5% type IV, 10% type VI), focusing on their otorhinolaryngologic problems and the impact of surgery on quality of life. We found ear, nose and throat manifestations in all types of MPS; in particular, recurrent otitis media was present in 30% of cases, hearing loss in 75% (mixed in 43.33%, conductive in 43.33%, sensorineural in 13.33%), adenotonsillar hypertrophy in 75%, frequent infections of the upper airway in 75% and obstructive sleep apnoea syndrome in 45% of cases. Fifty percent of patients required surgical therapy (adenotonsillectomy, adenoidectomy with insertion of middle ear ventilation tubes, tonsillectomy, tracheotomy and exeresis of vocal cord polyps). In our experience the ENT surgery reduced the frequency and severity of ear infections and relieved symptoms related to upper airway obstruction, thereby improving the quality of life in affected patients.
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Mucopolisacaridosis/complicaciones , Enfermedades Otorrinolaringológicas/etiología , Enfermedades Otorrinolaringológicas/terapia , Adolescente , Niño , Preescolar , Femenino , Humanos , Lactante , MasculinoRESUMEN
Pheochromocytomas and paragangliomas are tumors arising from neural crest-derived cells. They can be sympathetic in origin, catecholamine secreting and located in the abdomen or chest, or parasympathetic, generally non-secreting and located in the head and neck region. It is well established that about 35% of them are genetically determined. Germ-line mutations in one of the 10 so far known susceptibility genes is especially suspected when the tumors are diagnosed in young patients, multiple or recurrent or associated with additional lesions typical of syndromic clinical pictures such as von Hippel-Lindau, Multiple Endocrine Neoplasia type 2 or Neurofibromatosis type 1. Tumor genetic profile determines the type and pattern of catecholamine release, the clinical presentation, the risk of malignancy and may influence the choice of the radiotracers used in functional imaging, the type of surgical procedures as well as the type of medical therapy in the treatment of metastatic disease.
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Neoplasias de las Glándulas Suprarrenales , Predisposición Genética a la Enfermedad/genética , Pruebas Genéticas/métodos , Mutación/genética , Paraganglioma , Neoplasias de las Glándulas Suprarrenales/diagnóstico , Neoplasias de las Glándulas Suprarrenales/genética , Neoplasias de las Glándulas Suprarrenales/terapia , Genotipo , Humanos , Paraganglioma/diagnóstico , Paraganglioma/genética , Paraganglioma/terapiaRESUMEN
AIM: Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive congenital malformation syndrome caused by an inborn error of cholesterol biosynthesis. The incidence is around 1:20000-1:70000. SLOS phenotype is very broad: severe phenotypes show exitus in perinatal period while milder phenotypes only show behavioral and learning problems. The purpose of this study is to further contribute to the delineation of a cognitive and behavioral phenotype in SLOS. METHODS: Nine patients with SLOS aged between 22 months and 25 years have been followed at the Department of Pediatrics, University of Naples "Federico II" for 2 years. A neuropsychologic study has been carried out in order to assess motor development, adaptive skills, social behavior, communication and language, temperament, aggressive behavior, symptoms typical of autism spectrum disorders (ASDs). RESULTS: The overall assessment of cognitive/behavioral phenotype showed severe / profound mental retardation in most of them (8/9) with a quite homogeneous neuropsychological profile. The language area was deficient both in expressive and receptive skills. Adaptive skills were in line with mental development. The presence of behavior problems (self-injury and stereotypies) was detected in 6 patients. The study of temperament showed a trend towards a sedentary lifestyle, lack of inhibition against novelty and danger, and reduced interest in the stimuli. None of our patients could be diagnosed as having ASDs. CONCLUSION: Although a specific behavioral phenotype for SLOS has gained support in the literature, we believe that many of the features described in individuals with SLOS are common to other mental retardation syndromes.
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Síndrome de Smith-Lemli-Opitz/psicología , Adolescente , Adulto , Conducta , Niño , Preescolar , Cognición , Femenino , Estudios de Seguimiento , Humanos , Lactante , Masculino , Fenotipo , Síndrome de Smith-Lemli-Opitz/genética , Adulto JovenRESUMEN
Ataxia telangiectasia (A-T) is a rare autosomal recessive disorder characterized by progressive neurological dysfunction. To date, only supportive care aimed to halt the progressive neurodegeneration is available for the treatment. Recently, an improvement of neurological signs during short-term treatment with betamethasone has been reported. To date, the molecular and biochemical mechanisms by which the steroid produces such effects have not yet been elucidated. Therefore, a review of the literature was carried out to define the potential molecular and functional targets of the steroid effects in A-T. Glucocorticoids (GCs) are capable of diffusing into the CNS by crossing the blood-brain barrier (BBB) where they exert effects on the suppression of inflammation or as antioxidant. GCs have been shown to protect post-mitotic neurons from apoptosis. Eventually, GCs may also modulate synaptic plasticity. A better understanding of the mechanisms of action of GCs in the brain is needed, because in A-T during the initial phase of cell loss the neurological impairment may be rescued by interfering in the biochemical pathways. This would open a new window of intervention in this so far incurable disease.
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Ataxia Telangiectasia/tratamiento farmacológico , Ataxia Telangiectasia/fisiopatología , Betametasona/uso terapéutico , Proteínas de Ciclo Celular/fisiología , Proteínas de Unión al ADN/fisiología , Glucocorticoides/uso terapéutico , Degeneración Nerviosa/tratamiento farmacológico , Plasticidad Neuronal/efectos de los fármacos , Proteínas Serina-Treonina Quinasas/fisiología , Proteínas Supresoras de Tumor/fisiología , Ataxia Telangiectasia/genética , Proteínas de la Ataxia Telangiectasia Mutada , Betametasona/farmacología , Proteínas de Ciclo Celular/genética , Proteínas de Unión al ADN/genética , Glucocorticoides/fisiología , Humanos , Modelos Genéticos , Estrés Oxidativo/fisiología , Proteínas Serina-Treonina Quinasas/genética , Proteínas Supresoras de Tumor/genéticaRESUMEN
Growth hormone (GH), in addition to promote linear growth during childhood, exerts a key role in several processes of substrate metabolism. Adults with untreated GH deficiency and adolescents who discontinued GH therapy at completion of growth, exhibit a cluster of cardiovascular risk factors such as impaired cardiac performance, alteration in body proportion with increased visceral fat, dyslipidemia and hypertension, that could place them at higher risk of cardiovascular morbidity. Although studies on adolescents and children are still scarce, there is evidence that early markers of cardiovascular disease can be already detected in untreated children with GH deficiency and that, as in adults, GH replacement therapy exerts a beneficial role on metabolic alterations. Untreated GH deficiency in childhood and adolescence seems to be associated with reduced cardiac size and impaired cardiac function, dyslipidemia, abnormalities in body composition and in peripheral inflammatory markers. GH replacement therapy exerts a beneficial effects on most of these alterations. Aim of this review is to summarize the current findings on the effects of GH deficiency and GH treatment on early cardiovascular risk factors in children and adolescents.
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Enfermedades Cardiovasculares/etiología , Dislipidemias/etiología , Terapia de Reemplazo de Hormonas , Hormona de Crecimiento Humana/deficiencia , Inflamación/etiología , Obesidad Abdominal/etiología , Adipoquinas/fisiología , Adolescente , Composición Corporal , Enfermedades Cardiovasculares/epidemiología , Niño , Estudios Transversales , Dislipidemias/epidemiología , Tolerancia al Ejercicio , Glucosa/metabolismo , Cardiopatías/epidemiología , Cardiopatías/etiología , Hormona de Crecimiento Humana/fisiología , Hormona de Crecimiento Humana/uso terapéutico , Humanos , Hiperhomocisteinemia/epidemiología , Hiperhomocisteinemia/etiología , Hipertensión/epidemiología , Hipertensión/etiología , Inflamación/epidemiología , Resistencia a la Insulina , Metabolismo de los Lípidos , Obesidad Abdominal/epidemiología , Pacientes Desistentes del TratamientoRESUMEN
AIM: Our study aims at further defining the characteristics of epilepsy in Inherited Metabolic Disorders (IMDs). METHODS: We reviewed the medical records of 345 patients with IMDs followed at the Metabolic Diseases Unit of our Department of Pediatrics and found the presence of an epileptic syndrome in 45 cases. An overview is given based on various criteria such as pathogenetic background, seizure type, age of onset, EEG, neuroimaging data, treatability. Seizure types were: focal (24 patients), generalized (13 patients), febrile (3 patients), and hypoglycemic (8 patients with glycogenoses). Some patients presented with more than one type of seizures. Age of onset was mainly during the first year of life (N.=19), between 2 and 6 years in 13 patients, and after the 6th year in 9 patients. RESULTS: Available EEGs showed either focal (N.=21) or generalized epileptiform abnormalities (N.=11); multifocal paroxysms were evident in 3 patients while the remaining 3 patients had normal findings. Available neuroimages (CT/MRI) showed either normal findings (N.=6) or white matter abnormalities (N.=6), cerebral and/or cerebellar cortical atrophy (N.=11), hydrocephalus (N.=1), corpus callosum hypoplasia (N.=2), pontocerebellar hypoplasia (N.=1), gliosis in trigone area (N.=4). Most patients showed a favorable response to antiepileptic treatment (AEDs) with either complete control or reduced seizure frequency. CONCLUSION: IMDs are a relatively rare cause of epilepsy in children but their diagnosis is very important with respect to treatment, prognosis and genetic counselling.
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Epilepsia/diagnóstico , Epilepsia/etiología , Enfermedades Metabólicas/complicaciones , Enfermedades Metabólicas/diagnóstico , Adolescente , Anticonvulsivantes/uso terapéutico , Encéfalo/anomalías , Encéfalo/fisiopatología , Niño , Preescolar , Electroencefalografía , Epilepsias Parciales/diagnóstico , Epilepsias Parciales/etiología , Epilepsia/tratamiento farmacológico , Epilepsia Generalizada/diagnóstico , Epilepsia Generalizada/etiología , Femenino , Asesoramiento Genético , Hospitales Universitarios , Humanos , Lactante , Imagen por Resonancia Magnética , Masculino , Sistemas de Registros Médicos Computarizados , Enfermedades Metabólicas/tratamiento farmacológico , Pronóstico , Estudios Retrospectivos , Convulsiones/diagnóstico , Convulsiones/etiología , Síndrome , Tomografía Computarizada por Rayos X , Resultado del TratamientoRESUMEN
PURPOSE: The purpose of this study was to evaluate the usefulness of the main methods of diagnostic imaging in patients with segmental testicular infarction (STI) for obtaining accurate clinical and therapeutic approaches. MATERIALS AND METHODS: Between January 2004 and January 2011, 798 patients were examined with colour Doppler ultrasound (CDUS) for disease of the scrotum. Fourteen patients with CDUS findings suspicious for STI were subjected to magnetic resonance imaging (MRI). In five patients, contrast-enhanced ultrasonography (CEUS) was performed. RESULTS: CDUS showed hypoechoic avascular areas suspicious for STI in 14 patients (1.75%). MRI confirmed the presence of predominantly hypointense lesions in T1- and T2-weighted sequences, with perilesional vasculature and no intrinsic contrast enhancement in 13 patients. In follow-up examinations, these abnormalities gradually decreased. This finding was confirmed in the five patients examined with CEUS. Only in one case did MRI reveal discrete intralesional contrast enhancement after injection of contrast medium, and the lesions appeared stable during the CDUS and MRI follow-up; this patient underwent orchiectomy, with a diagnosis of B-cell lymphoma. CONCLUSIONS: In our experience CDUS, CEUS and MRI proved indispensable for accurate clinical and therapeutic approaches in suspected STI.
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Infarto/diagnóstico , Imagen por Resonancia Magnética , Testículo/irrigación sanguínea , Ultrasonografía Doppler , Adulto , Anciano , Medios de Contraste , Humanos , Infarto/diagnóstico por imagen , Masculino , Persona de Mediana EdadRESUMEN
PURPOSE: evaluate the psychomotor evolution of a child with Multiple acyl-CoA dehydrogenase deficiency after treatment with L-carnitine, ubiquinone and riboflavin. METHODS: an assessment of psychomotor development was performed before the start of farmacological treatment using the Assessment Scale of Mental Development Griffiths (GMDS-R, 0-2 years). The same assessment was performed after a month and after six months of treatment to evaluate the possible benefits of treatment. RESULTS: we noticed a quick and dramatic improvement in muscular tone and motor performances after pharmacological treatment. We also observed a substantial improvement in the personal/social and hearing/language areas, suggesting the presence of intellectual/cognitive improvement. The clinical improvement correlated with the biochemical response. CONCLUSION: In our patient early therapy resulted in a optimal response in psychomotor development, motor function and muscole hypotonia. Evaluation with GMDS-R, a simple, non-invasive and multidimensional tool, represents a useful instrument to monitor the clinical response to treatment.
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Acil-CoA Deshidrogenasa/deficiencia , Errores Innatos del Metabolismo de los Aminoácidos/tratamiento farmacológico , Acidosis/etiología , Acidosis/genética , Errores Innatos del Metabolismo de los Aminoácidos/enzimología , Errores Innatos del Metabolismo de los Aminoácidos/patología , Carnitina/uso terapéutico , Desarrollo Infantil , Audición/fisiología , Humanos , Hipoglucemia/etiología , Hipoglucemia/genética , Lactante , Desarrollo del Lenguaje , Masculino , Hipotonía Muscular/tratamiento farmacológico , Hipotonía Muscular/etiología , Músculo Esquelético/patología , Pruebas Neuropsicológicas , Desempeño Psicomotor/fisiología , Riboflavina/uso terapéutico , Conducta Social , Espectrometría de Masas en Tándem , Ubiquinona/uso terapéutico , Vitaminas/uso terapéuticoRESUMEN
BACKGROUND: Cytological examination of fine needle aspirates (FNA) is the standard procedure for discriminating potentially malignant thyroid nodules to be referred to surgery. In a fraction of cases, ultrasound (US) examination could provide information theoretically sufficient to avoid FNA, when typical US features suggesting malignancies are lacking. AIM: The aim of this study was to construct a simple US score predicting malignant nodules so as to reduce the number of unnecessary FNA. SUBJECTS AND METHODS: In a series of 1632 consecutive patients undergoing US-guided FNA (1812 nodules), echostructure, echogenicity, margins, halo, microcalcification, and vascularization were assessed. RESULTS: At multivariate analysis, the following parameters showed a strong predictive value for positive cytology (Thy 4 and Thy 5, suspicious and diagnostic for malignancy, respectively, according to the Thyroid British Association): solid echostructure, irregular margins and hypoechogenicity [adjusted odd ratio (OR) 5.13 (1.58-16.66), 3.03 (1.70-5.39), 2.05 (1.17-3.57), respectively]. A 10-point Thyroid Risk Ultrasound Score (TRUS) was constructed on the basis of the adjusted OR. A TRUS≥6 identified malignant nodules with sensitivity and specificity of 73% and 65%, respectively. Among the patients with follicular lesions (Thy 3) and final diagnosis of carcinoma, about 65% had a TRUS≥6.0. CONCLUSIONS: The sensitivity of TRUS, although higher than that of other scores, could still be insufficient for the identification of patients who could avoid FNA in routine clinical practice, whereas its predictive value for Thy 3 lesions deserves further investigations.
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Nódulo Tiroideo/diagnóstico por imagen , Nódulo Tiroideo/patología , Ultrasonografía Doppler en Color , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Biopsia con Aguja Fina , Citodiagnóstico , Diagnóstico Diferencial , Femenino , Humanos , Masculino , Persona de Mediana Edad , Curva ROC , Adulto JovenRESUMEN
BACKGROUND: Subarachnoid hemorrhage (SAH) is a potential cause of hypopituitarism. Most of the studies regarding the relationship between SAH and anterior pituitary function were retrospective and hormonal assessment was performed several months after SAH. AIM: To prospectively evaluate the prevalence of anterior pituitary hormone deficiencies in the acute phase after spontaneous SAH and their possible correlation with clinical and radiological parameters. METHODS: Pituitary function was tested in 60 patients within 72 h after spontaneous SAH. RESULTS: 56.9% of the patients showed at least one anterior pituitary hormone deficiency: gonadotropin and GH secretion failure represented the most prevalent hormonal deficiencies (33.3 and 22.0%, respectively), whereas ACTH and TSH deficiency was less frequent (7.1 and 1.8%, respectively). With the exception of secondary hypogonadism, the prevalence of other pituitary hormone deficiencies is in agreement with previous studies, which evaluated pituitary function on longterm follow up after SAH. No correlation was found between hypopituitarism and clinical status, as assessed with Hunt-Hess and Glascow Coma Scales. Moreover, no correlation was found between hypopituitarism and bleeding severity evaluated with Fisher's scale. CONCLUSIONS: We demonstrated a high prevalence of anterior pituitary hormone deficiencies acutely after SAH. Although part of GH and gonadotropin deficiencies might be a consequence of functional alteration due to SAH itself, the finding of low cortisol levels in this stressful condition strongly suggests the presence of true hypocortisolism. Therefore, an evaluation of pituitary function shortly after SAH might be useful to identify a subset of patients who deserve a more accurate follow-up.
Asunto(s)
Adenohipófisis/fisiología , Adenohipófisis/fisiopatología , Hemorragia Subaracnoidea/fisiopatología , Adulto , Anciano , Femenino , Humanos , Hipopituitarismo/sangre , Hipopituitarismo/etiología , Hipopituitarismo/fisiopatología , Masculino , Persona de Mediana Edad , Hormonas Hipofisarias/sangre , Hormonas Hipofisarias/deficiencia , Hemorragia Subaracnoidea/complicaciones , Hormonas Tiroideas/sangre , Hormonas Tiroideas/deficienciaRESUMEN
The syndrome of inappropriate ADH secretion (SIADH), also recently referred to as the "syndrome of inappropriate antidiuresis", is an often underdiagnosed cause of hypotonic hyponatremia, resulting for instance from ectopic release of ADH in lung cancer or as a side-effect of various drugs. In SIADH, hyponatremia results from a pure disorder of water handling by the kidney, whereas external Na+ balance is usually well regulated. Despite increased total body water, only minor changes of urine output and modest edema are usually seen. Renal function and acid-base balance are often preserved, while neurological impairment may range from subclinical to life-threatening. Hypouricemia is a distinguishing feature. The major causes and clinical variants of SIADH are reviewed, with particular emphasis on iatrogenic complications and hospital-acquired hyponatremia. Effective treatment of SIADH with water restriction, aquaretics, or hypertonic saline + loop diuretics, as opposed to worsening of hyponatremia during parenteral isotonic fluid administration, underscores the importance of an early accurate diagnosis and careful follow-up of these patients.