L’argomentazione delle decisioni della Cassazione: tra autorevolezza del precedente ed esigenze di semplificazione.

La relazione mira ad approfondire il ruolo dell'argomentazione nel ragionamento dei giudici della Corte di Cassazione italiana e processo decisionale, indicando la funzione del vincolo dello stare decisis (precedente) in un sistema di civil law, quale quello italiano, e tenendo conto del carico di ricorsi che ogni anno la Corte deve gestire

Deficiency of adenosine deaaminaae (ADA): Clinical, biochemical, molecular and treatment aspects [Deficiencia de adenosina desaminasa (ADA): Aspectos cl�nicos, bioqu�micos, moleculares y de tratamiento]

Adenosine Desaminase (ADA) deficiency, is a purine metabolic disorder that cause severe combined immunodeficiency (SCID) due to the accumulation of toxic metabolites that primarily affects development, differentiation and function of T and B lymphocytes. In addition, some patients show neurological, renal and liver abnormalities, delayed in development, deafness and seizures. If the immune response is not restored, children with this disorder rarely survive; therefore, ADA deficiency must be suspected when difficulty gaining weight, recurrent infections and skeletal abnormalities are present. The ADA deficiency has clinical and immunological characteristics not seen in other immunodeficiencies, data that helps to guide the diagnosis and therapy. This review summarizes clinical, pathological, molecular and treatment findings described in this disease

Deficiency of adenosine deaaminaae (ADA): Clinical, biochemical, molecular and treatment aspects [Deficiencia de adenosina desaminasa (ADA): Aspectos clínicos, bioquímicos, moleculares y de tratamiento]

Adenosine Desaminase (ADA) deficiency, is a purine metabolic disorder that cause severe combined immunodeficiency (SCID) due to the accumulation of toxic metabolites that primarily affects development, differentiation and function of T and B lymphocytes. In addition, some patients show neurological, renal and liver abnormalities, delayed in development, deafness and seizures. If the immune response is not restored, children with this disorder rarely survive; therefore, ADA deficiency must be suspected when difficulty gaining weight, recurrent infections and skeletal abnormalities are present. The ADA deficiency has clinical and immunological characteristics not seen in other immunodeficiencies, data that helps to guide the diagnosis and therapy. This review summarizes clinical, pathological, molecular and treatment findings described in this disease

Finite Kerr medium: Macroscopic quantum superposition states and Wigner functions on the sphere

We report on a man with mental retardation and a complex karyotype with cells containing up to three morphologically distinct supernumerary marker chromosomes (SMCs) in most metaphases. Fluorescence in situ hybridization studies using chromosome 15-specific probes characterised the presence of seven SMCs all derived from chromosome 15. The results suggest that the patient originally had a large inv dup(15) containing two copies of the Prader-Willi/Angelman critical region which became mitotically unstable, and by a process of dynamic mosaicism various morphologically distinct SMCs arose. " 2001 Wiley-Liss, Inc.",,,,,,"10.1002/ajmg.1516",,,"http://hdl.handle.net/20.500.12104/41536","http://www.scopus.com/inward/record.url?eid=2-s2.0-0035497749&partnerID=40&md5=2a10699b4d10f0a9728d789611235d67",,,,,,"4",,"American Journal of Medical Genetics",,"28

Pharmacogenomics of methotrexate: Strategy for a more individualized therapy in patients with rheumatoid arthritis [Farmacogenómica del metotrexate: Estrategia para una terapéutica más individualizada en pacientes con artritis reumatoide]

Rheumatoid arthritis (RA) is a common rheumatic disease in Mexico. Methotrexate (MTX) is a drug frequently used in the treatment of this disease. However, treatment discontinuation due to side effects is also common. Inter-individual differences in effectiveness and occurrence of side effects in RA patients treated with MTX (RA-MTX) have been reported. Several studies analyzed the presence of MTHFR C677T and A1298C polymorphisms in RAMTX patients associated with effectiveness, side effects and toxicity. Given the high frequency of the MTHFR C677T polymorphism in Mexico, it is of utmost interest to determine the allelic and genotypic frequency of these polymorphisms in patients with RA-MTX. The use of molecular techniques, feasible in our country, such as PCR/ RFLP (Polymerase Chain Reaction-Restriction Fragment Length Polymorphism) can allow us to identify these MTHFR genotypes among RA-MTX patients in order to target patients at risk of developing drug toxicity, side effects or better MTX efficacy. The ultimate goal is to develop individualized treatment, as promised by the field of pharmacogenomics

Pharmacogenomics of methotrexate: Strategy for a more individualized therapy in patients with rheumatoid arthritis [Farmacogenómica del metotrexate: Estrategia para una terapéutica más individualizada en pacientes con artritis reumatoide]

Rheumatoid arthritis (RA) is a common rheumatic disease in Mexico. Methotrexate (MTX) is a drug frequently used in the treatment of this disease. However, treatment discontinuation due to side effects is also common. Inter-individual differences in effectiveness and occurrence of side effects in RA patients treated with MTX (RA-MTX) have been reported. Several studies analyzed the presence of MTHFR C677T and A1298C polymorphisms in RAMTX patients associated with effectiveness, side effects and toxicity. Given the high frequency of the MTHFR C677T polymorphism in Mexico, it is of utmost interest to determine the allelic and genotypic frequency of these polymorphisms in patients with RA-MTX. The use of molecular techniques, feasible in our country, such as PCR/ RFLP (Polymerase Chain Reaction-Restriction Fragment Length Polymorphism) can allow us to identify these MTHFR genotypes among RA-MTX patients in order to target patients at risk of developing drug toxicity, side effects or better MTX efficacy. The ultimate goal is to develop individualized treatment, as promised by the field of pharmacogenomics

Guadalajara camptodactyly type III: A new probably autosomal dominant syndrome

A Mexican family is presented with the main clinical features of camptodactyly, a distinctive facial appearance because of ocular hypertelorism, telecanthus, symblepharon and spinal defects. Other clinical manifestations included: multiple nevi, simplified ears, retrognathia, congenital shortness of the sternocleidomastoid muscle, thin hands and feet, a small penis and mild mental retardation. Radiographic studies revealed spina bifida occulta at cervical and dorso-lumbar levels, increased bone trabeculae, cortical thickening and delayed bone age. The presence of five affected members through four generations suggests autosomal dominant inheritance although no male-to-male transmission was documented. The authors propose this as a new entity, and have designated it Guadalajara camptodactyly type III. � 2002 Lippincott Williams & Wilkins

Guadalajara camptodactyly type III: A new probably autosomal dominant syndrome

A Mexican family is presented with the main clinical features of camptodactyly, a distinctive facial appearance because of ocular hypertelorism, telecanthus, symblepharon and spinal defects. Other clinical manifestations included: multiple nevi, simplified ears, retrognathia, congenital shortness of the sternocleidomastoid muscle, thin hands and feet, a small penis and mild mental retardation. Radiographic studies revealed spina bifida occulta at cervical and dorso-lumbar levels, increased bone trabeculae, cortical thickening and delayed bone age. The presence of five affected members through four generations suggests autosomal dominant inheritance although no male-to-male transmission was documented. The authors propose this as a new entity, and have designated it Guadalajara camptodactyly type III. © 2002 Lippincott Williams & Wilkins

Reproductive history in mothers of children with neural tube defects

The reproductive history of 100 women with at least 1 child with a neural tube defect (NTD) has been studied. The data analyzed correspond to the period previous to their first visit to a genetic counseling service. A total of 204 pregnancies resulted in 205 outcomes. Of the 100 sibships, 14 (14%) had more than 1 affected member. The pregnancy was shorter than 28 weeks in 56/205 (27%) of the total outcomes. Of 104 evaluable previous outcomes, 34 corresponded to short pregnancies, positioned before an affected (23/60, 38%), a healthy (2/18, 11%), or an undiagnosed product (9/26, 35%). Short pregnancies subsequent to affected outcomes were also increased. The inter-gestational interval varied according to diagnosis: it was longer in the affected group than in the healthy one (0.1 > p > 0.05) and the subsequent intervals were shorter for the affected group (p < 0.05). An increased number of abortions adjacent to affected offspring and a changing fertility pattern, depending on the product diagnosis, point to an environmental etiological component in this high- risk NTD group of mothers. Copyright (C) 2000 S. Karger AG, Basel

Reproductive history in mothers of children with neural tube defects

The reproductive history of 100 women with at least 1 child with a neural tube defect (NTD) has been studied. The data analyzed correspond to the period previous to their first visit to a genetic counseling service. A total of 204 pregnancies resulted in 205 outcomes. Of the 100 sibships, 14 (14%) had more than 1 affected member. The pregnancy was shorter than 28 weeks in 56/205 (27%) of the total outcomes. Of 104 evaluable previous outcomes, 34 corresponded to short pregnancies, positioned before an affected (23/60, 38%), a healthy (2/18, 11%), or an undiagnosed product (9/26, 35%). Short pregnancies subsequent to affected outcomes were also increased. The inter-gestational interval varied according to diagnosis: it was longer in the affected group than in the healthy one (0.1 > p > 0.05) and the subsequent intervals were shorter for the affected group (p < 0.05). An increased number of abortions adjacent to affected offspring and a changing fertility pattern, depending on the product diagnosis, point to an environmental etiological component in this high- risk NTD group of mothers. Copyright (C) 2000 S. Karger AG, Basel