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1.
J Intellect Disabil Res ; 63(3): 225-232, 2019 03.
Artículo en Inglés | MEDLINE | ID: mdl-30536814

RESUMEN

BACKGROUND: The association of behavioural phenotype assessment with cytogenomic characterisation may provide a better comprehension of genotype-phenotype correlations in syndromes caused by chromosomal abnormalities, such as 18p deletion syndrome. METHOD: We report on four Brazilian patients with 18p deletion syndrome characterised by cytogenomic techniques and detailed neuropsychological evaluation. Intellectual, adaptive and behavioural characteristics were assessed through the Wechsler's Scales, the Vineland-II Scale and the Child Behaviour Checklist, respectively. Socio-economic measures including main caretaker educational level and family income as defined by Brazilian criteria for social class classification were also collected to evaluate a possible contribution of environmental factors in neurocognitive variability. RESULTS: Two out of four patients showed intellectual disability (IQ < 70). Wechsler's scale results suggest that in our sample, interpretation of social situations based on observation of non-verbal behaviour constitute a cognitive strength while judgement of social rules and language skills associated with word knowledge and verbal fluency may be a cognitive weakness. Concerning adaptive behaviour, motor and socialisation domains showed to better develop than communication and daily living skills on the Vineland-II Scale. Only one patient presented internalising behavioural problems based on the Child Behaviour Checklist. Our results also suggested that socio-economic status may contribute to overall patient development. CONCLUSION: Our results suggest that some 18p deletion syndrome patients may present average intellectual performance and that the segment deletion size and some families' socio-economic conditions may influence cognitive development.


Asunto(s)
Adaptación Psicológica , Deleción Cromosómica , Trastornos de los Cromosomas , Discapacidad Intelectual , Conducta Social , Factores Socioeconómicos , Adaptación Psicológica/fisiología , Adulto , Brasil , Niño , Trastornos de los Cromosomas/complicaciones , Trastornos de los Cromosomas/genética , Trastornos de los Cromosomas/fisiopatología , Trastornos de los Cromosomas/psicología , Cromosomas Humanos Par 18/genética , Femenino , Pruebas Genéticas , Humanos , Discapacidad Intelectual/etiología , Discapacidad Intelectual/genética , Discapacidad Intelectual/fisiopatología , Discapacidad Intelectual/psicología , Masculino , Adulto Joven
3.
Genet Mol Res ; 9(1): 134-43, 2010 Jan 26.
Artículo en Inglés | MEDLINE | ID: mdl-20198569

RESUMEN

Ring chromosomes are often associated with abnormal phenotypes due to loss of genomic material and also because of ring instability at mitosis after sister chromatid exchange events. We investigated ring chromosome instability in six patients with ring chromosomes 4, 14, 15, and 18 by examining 48- and 72-h lymphocyte cultures at the first, second and subsequent cell divisions after bromodeoxyuridine incorporation. Although most cells from all patients showed only one monocentric ring chromosome, ring chromosome loss and secondary aberrations were observed both in 48- and 72-h lymphocyte cultures and in metaphase cells of the different cell generations. We found no clear-cut correlation between ring size and ring instability; we also did not find differences between apparently complete rings and rings with genetic material loss. The cytogenetic findings revealed secondary aberrations in all ring chromosome patients. We concluded that cells with ring chromosome instability can multiply and survive in vivo, and that they can influence the patient's phenotype.


Asunto(s)
Inestabilidad Cromosómica/genética , Cromosomas en Anillo , Recuento de Células , Niño , Preescolar , Replicación del ADN , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Metafase , Embarazo
4.
G Chir ; 27(5): 193-8, 2006 May.
Artículo en Italiano | MEDLINE | ID: mdl-16857106

RESUMEN

The aim of this work is to report our three-years experience in the endovascular laser treatment of lower limbs varicose veins. After the evaluation of results after a middle-term follow-up, Authors discuss about an enlargement of indications to this method, and suggest some original technical details.


Asunto(s)
Terapia por Láser , Várices/cirugía , Estudios de Seguimiento , Humanos , Terapia por Láser/métodos , Vena Safena/cirugía , Factores de Tiempo , Resultado del Tratamiento , Ultrasonografía Doppler en Color , Várices/diagnóstico por imagen
5.
G Chir ; 23(4): 125-8, 2002 Apr.
Artículo en Italiano | MEDLINE | ID: mdl-12163998

RESUMEN

The Authors report the outcomes of an epidemiology study concerning the external genital pathologies, carried out on 2400 young males, ranging between 18 and 22 years who underwent the medical inspection for admission to the Air Force Academy. Basing on an andrologic clinical and anamnestic protocol, 229 cases with genital abnormalities, and among them 171 cases of varicocele (8.16%), were detected. The presence of varicocele in all the selected cases was confirmed with proper instrumental investigations (CW Doppler, ecocolorDoppler, telethermography). A randomized sample of 240 out of the 2400 young males, underwent the same investigations as a routine. These investigations enhanced the accuracy in detecting the varicocele, and allowed to identify 3 new cases, all classified as 1st type, in addition to the 19 previously correctly detected by the clinical and anamnestic examination.


Asunto(s)
Enfermedades de los Genitales Masculinos/epidemiología , Genitales Masculinos/anomalías , Adolescente , Adulto , Factores de Edad , Humanos , Italia/epidemiología , Masculino , Varicocele/epidemiología
6.
G Chir ; 23(1-2): 45-7, 2002.
Artículo en Italiano | MEDLINE | ID: mdl-12043471

RESUMEN

The external biliary drainage in severe jaundice secondary to pancreatic carcinoma acts differently in pre, intra, and postoperative period. In the preoperative period the drainage enables to lower the direct bilirubinemia and the intrahepatic biliary stasis and consequently the complications linked to the impaired hepatic and renal function. During the operation the catheter acts as a guide in performing the biliodigestive anastomosis. In the postoperative period the external drainage of most of daily biliary secretion protects the biliodigestive anastomosis during the postoperative paralytic ileus, and prevents the fistula development along the pancreatic jejunal anastomosis.


Asunto(s)
Colestasis/terapia , Drenaje/métodos , Neoplasias Pancreáticas/complicaciones , Cuidados Posoperatorios , Cuidados Preoperatorios , Colestasis/etiología , Humanos , Estudios Retrospectivos
7.
G Chir ; 22(5): 191-3, 2001 May.
Artículo en Italiano | MEDLINE | ID: mdl-11443845

RESUMEN

The Authors report in this paper the outcomes of a post-operative study based on echo and echo-color imaging in 10 patients who underwent surgery for bilateral groin hernia. On both sides the operation was performed with a "patch and plug" implantation, according to the Rutkow technique. On right sides the polypropilene mesh was fixed to the inguinal orifice with cardinal stitches, while on left sides the mesh was shaped and spreaded on the orifice without any fixation. The U.S. postoperative pictures, performed up to 30 th p.o. day, showed a better stretching of the unfixed meshs, probably owed to a better adapting capability of the free mesh inside the tissues in standing position. The Authors consider significative the correlation between images showing in 7 patient's right sides little irregularities in mesh display, with presence of thin liquid filled spaces, and the moderate postoperative pain, that occurred in the same side in 6 of them.


Asunto(s)
Hernia Inguinal/diagnóstico por imagen , Hernia Inguinal/cirugía , Mallas Quirúrgicas , Adulto , Anciano , Procedimientos Quirúrgicos del Sistema Digestivo/métodos , Humanos , Masculino , Persona de Mediana Edad , Ultrasonografía
8.
G Chir ; 22(10): 325-32, 2001 Oct.
Artículo en Italiano | MEDLINE | ID: mdl-11816942

RESUMEN

The aim of this work was to clearly illustrate that the haemodynamic pathogenesis of the varicocele can be a consequence of a retrograde flux along the internal spermatic vein. The reflux is due to the use of a different path of drainage along the internal spermatic vein, which uses some collateral routes of the vessel, and mainly the nephrogenital branch. The diminishing pressure in the final segment of the internal spermatic vein is the focal points of the pathogenesis of the disease. The ontogenetic processes that lead to the formation of the left renal vein help in explaining the almost general one-sidedness of the disorder, its frequency and the fact that it is mostly the young who are affected by it. In fact, the variability of the timing and of the extension of the involution of the primitive venous system and of the processes of evolution which lead to the morphological definition of the tracts of the genital flow down, lead to the various manifestations of the idiopathic varicocele. This theory which also takes into account the physiological mechanisms of the venous drainage to the testicle in an anti-gravitation sense is part of the patterns that, under the diaphragm, rule the entire venous return of the blood toward to the heart.


Asunto(s)
Venas Renales/embriología , Cordón Espermático/irrigación sanguínea , Varicocele/etiología , Venas/embriología , Epidídimo/irrigación sanguínea , Edad Gestacional , Humanos , Masculino , Cordón Espermático/embriología , Testículo/irrigación sanguínea , Varicocele/fisiopatología , Presión Venosa
9.
Am J Med Genet ; 95(4): 302-6, 2000 Dec 11.
Artículo en Inglés | MEDLINE | ID: mdl-11186881

RESUMEN

Prenatal exposure to misoprostol has been associated with Moebius and limb defects. Vascular disruption has been proposed as the mechanism for these teratogenic effects. The present study is a multicenter, case-control study that was designed to compare the frequency of prenatal misoprostol use between mothers of Brazilian children diagnosed with vascular disruption defects and matched control mothers of children diagnosed with other types of defects. A total of 93 cases and 279 controls were recruited in eight participating centers. Prenatal exposure was identified in 32 infants diagnosed with vascular disruption defects (34.4%) compared with only 12 (4.3%) in the control group (P<0.0000001). Our data suggest that prenatal exposure to misoprostol is associated to the occurrence of vascular disruption defects in the newborns.


Asunto(s)
Anomalías Inducidas por Medicamentos/fisiopatología , Abortivos no Esteroideos/efectos adversos , Feto/irrigación sanguínea , Feto/efectos de los fármacos , Misoprostol/efectos adversos , Efectos Tardíos de la Exposición Prenatal , Abortivos no Esteroideos/administración & dosificación , Administración Oral , Adulto , Estudios de Casos y Controles , Femenino , Humanos , Deformidades Congénitas de las Extremidades/inducido químicamente , Deformidades Congénitas de las Extremidades/fisiopatología , Misoprostol/administración & dosificación , Síndrome de Mobius/inducido químicamente , Síndrome de Mobius/fisiopatología , Oportunidad Relativa , Embarazo
10.
N Engl J Med ; 338(26): 1881-5, 1998 Jun 25.
Artículo en Inglés | MEDLINE | ID: mdl-9637807

RESUMEN

BACKGROUND: Patients with upper gastrointestinal ulceration may be treated with misoprostol, but it is not recommended for pregnant women because it may stimulate uterine contractions and cause vaginal bleeding and miscarriage. Recent data from Brazil, where misoprostol is used orally and vaginally as an abortifacient, have suggested a relation between the use of misoprostol by women in an unsuccessful attempt to terminate pregnancy and Möbius' syndrome (congenital facial paralysis) in their infants. METHODS: We compared the frequency of misoprostol use during the first trimester by mothers of infants in whom Möbius' syndrome was diagnosed and mothers of infants with neural-tube defects in Brazil. All diagnoses in infants were made between January 16, 1990, and May 31, 1996, by clinical geneticists at seven hospitals who also interviewed the mothers and recorded information about the administration of misoprostol, among other data. RESULTS: We identified 96 infants with Möbius' syndrome and matched them with 96 infants with neural-tube defects. The mean age at the time of the diagnosis of Möbius' syndrome was 16 months (range, 0.5 to 78), and the diagnosis of neural-tube defects was made within 1 week of birth in most cases. Among the mothers of the 96 infants with Möbius' syndrome, 47 (49 percent) had used misoprostol in the first trimester of pregnancy, as compared with 3 (3 percent) of the mothers of the 96 infants with neural-tube defects (odds ratio, 29.7; 95 percent confidence interval, 11.6 to 76.0). Twenty of the mothers of the infants with Möbius' syndrome had taken misoprostol only orally (odds ratio, 38.8; 95 percent confidence interval, 9.5 to 159.4), 20 had taken misoprostol both orally and vaginally, 3 had taken the drug vaginally, and 4 did not report how they took the drug. CONCLUSIONS: Attempted abortion with misoprostol is associated with an increased risk of Möbius' syndrome in infants.


Asunto(s)
Abortivos no Esteroideos/efectos adversos , Parálisis Facial/inducido químicamente , Parálisis Facial/congénito , Misoprostol/efectos adversos , Efectos Tardíos de la Exposición Prenatal , Aborto Inducido/métodos , Estudios de Casos y Controles , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Defectos del Tubo Neural , Oportunidad Relativa , Embarazo , Primer Trimestre del Embarazo , Teratógenos
11.
Med Lav ; 87(5): 411-22, 1996.
Artículo en Italiano | MEDLINE | ID: mdl-9045029

RESUMEN

In recent years the measurement of mold spore concentrations in working environments where workers spend long periods of time has acquired considerable importance because of the diffusion of diseases caused by fungi. On this basis, the aim of the research was to evaluate the level of environmental fungal pollution and contamination by mites in three factories producing seasoned foods, i.e., hams, sausages and cheeses. We also studied the occurrence of fungal species in the upper respiratory tract of workers operating in the washing and brushing areas, which was compared with the environmental concentrations in these areas, where contamination with fungal spores was visibly high. The results showed high and widespread fungal pollution in most of the working environments sampled and a significant presence of the same species in the upper respiratory tract of the workers. The data obtained indicate that the environments sampled can constitute a possible health risk factor for workers.


Asunto(s)
Microbiología del Aire , Contaminantes Ocupacionales del Aire/aislamiento & purificación , Hongos/aislamiento & purificación , Infestaciones por Ácaros/etiología , Ácaros , Enfermedades Profesionales/etiología , Infecciones del Sistema Respiratorio/etiología , Animales , Contaminación de Alimentos , Industria de Procesamiento de Alimentos , Humanos , Italia , Hipersensibilidad Respiratoria/etiología , Factores de Riesgo , Esporas Fúngicas/aislamiento & purificación
12.
Minerva Chir ; 50(7-8): 681-5, 1995.
Artículo en Italiano | MEDLINE | ID: mdl-8532203

RESUMEN

The authors report the results of more than five years experience of phlebectomies, according to Müller's method, performed both in general anesthesia during stripping operations and in local practice. The results confirmed the validity of this complementary surgical treatment for its radicality, execution simpleness and best respect for aesthetics.


Asunto(s)
Procedimientos Quirúrgicos Ambulatorios , Várices/cirugía , Procedimientos Quirúrgicos Vasculares/métodos , Estética , Humanos , Microcirugia/métodos , Selección de Paciente , Resultado del Tratamiento , Várices/complicaciones
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