ABSTRACT
OBJECTIVES: To determine the incidence of spinal muscular atrophy (SMA) in our study population and genetic distribution and epidemiological and clinical characteristics and to analyze the level of care and development. MATERIAL AND METHOD: Retrospective descriptive study of patients treated in our hospital in the past 25 years (from 1987 to early 2013), with a clinical and neurophysiological diagnosis of SMA. RESULTS: A total of 37 patients were found, representing an incidence for our reference population and year of 1 case per 10,000 live births. Males predominated (male/female ratio: 1.6/1). The type of SMA diagnosed more frequently was, type i (26 cases), followed by type ii (9 cases), one case with SMA type iii, and one case of spinal muscular atrophy with respiratory distress type 1 (SMARD1). The most frequent genetic alteration was homozygous deletion of exons 7 and 8 of SMN1 gene in 31 cases, while five patients had atypical genetics. The median survival for type i was 8.0 months and 15.8 years for type ii. CONCLUSIONS: The incidence in our population remains stable at around 1/10.000. Most cases presented with, predominantly male, typical genetics. In approximately 1/10 patients the genetic alteration was different from the classical one to the SMN gene. The prevalence of AME unrelated SMN gene was 1/37. The level of care has increased in line with social and welfare demands in recent years.
Subject(s)
Muscular Atrophy, Spinal , Respiratory Distress Syndrome, Newborn , Adolescent , Child , Child, Preschool , Female , Humans , Incidence , Infant , Infant, Newborn , Male , Muscular Atrophy, Spinal/diagnosis , Muscular Atrophy, Spinal/epidemiology , Muscular Atrophy, Spinal/genetics , Muscular Atrophy, Spinal/therapy , Mutation , Respiratory Distress Syndrome, Newborn/diagnosis , Respiratory Distress Syndrome, Newborn/epidemiology , Respiratory Distress Syndrome, Newborn/genetics , Respiratory Distress Syndrome, Newborn/therapy , Retrospective Studies , Spain , Time Factors , Young AdultABSTRACT
The molecular epidemiology of HIV-1 in Argentina is more complex than was previously appreciated. One circulating recombinant form, CRF12_BF, and many related BF recombinant forms predominate in the capital city, Buenos Aires. This study of HIV-1 subtypes acquired perinatally between 1984 and 2000 has permitted, for the first time, a reconstruction of the history of BF recombination in Argentina. Sequencing of a partial genome region from the beginning of vpu to the beginning of env(gp120), which spans a breakpoint common in most contemporary Argentine BF recombinants, enabled samples to be rapidly screened. Among 23 children born between 1984 and 2000, 15 including 1 child born in 1986, harbored a BF recombinant. Thirteen of the 15 recombinants shared a common breakpoint at the 5' end of env(gp120). Full genome sequencing of two viruses, from 1986 and 1987, respectively, revealed them to be genetically related but not identical to CRF12_BF. Both contained more subtype B sequence than did CRF12_BF. BF recombinants related to CRF12_BF have been in circulation in Buenos Aires since 1986 and continue to predominate in perinatal transmissions.
Subject(s)
HIV Infections/transmission , HIV-1/genetics , Infectious Disease Transmission, Vertical , Adolescent , Argentina/epidemiology , Child , Child, Preschool , HIV Envelope Protein gp120/genetics , HIV Infections/epidemiology , HIV Protease/genetics , HIV Reverse Transcriptase/genetics , HIV-1/classification , Human Immunodeficiency Virus Proteins , Humans , Infant , Phylogeny , RNA/genetics , RNA, Viral/genetics , Sequence Analysis , Viral Regulatory and Accessory Proteins/geneticsABSTRACT
Introducción: Muchas veces tenemos dificultad para satisfacer las necesidades terapéuticas de nuestros pacientes. Con objeto de identificar las causas del problema, analizamos la adecuación entre objetivos y medios, evaluando los recursos humanos disponibles.Material y método: Analizamos tres aspectos de nuestra especialidad: la situación ideal, la situación real y la imagen proyectada o percibida. De la definición de Rehabilitación deducimos la situación ideal y la relación óptima objetivos/medios. Del análisis de algunas fuentes de información institucionales, determinamos la situación real. En base a nuestra experiencia personal, algunas noticias de prensa y otras publicaciones analizamos la imagen percibida sobre nuestra especialidad.Resultados y discusión: Lo 'ideal' sería disponer de un equipo multiprofesional/interdisciplinar. La realidad es que contamos con un equipo profesional demasiado básico, capaz de atender los problemas subsidiarios de 'Medicina Física', pero con carencias para tratar discapacidades múltiples o complejas. La causa del problema es estructural (carencia de recursos) y funcional (inadecuada utilización); al no haber reconocimiento oficial la gravedad es mayor. La imagen que otros profesionales perciben de nuestra especialidad no es adecuada; esto produce confusiones y podría ser motivo de problemas futuros.Conclusiones: Al carecer del equipo multiprofesional/interdisciplinar, tenemos una Rehabilitación 'bajo mínimos'.Esto genera una imagen confusa y distorsionada de nuestra especialidad y podría desencadenar diversos conflictos. Detectamos que la sociedad necesita y demanda las genuinas soluciones de la Rehabilitación, sin carencias de ningún tipo.Sería conveniente abrir un debate en el seno de nuestras sociedades científicas, para buscar soluciones a estos problemas (AU)
Subject(s)
Humans , Diagnosis of Health Situation , Outcome and Process Assessment, Health Care , Physical and Rehabilitation Medicine/organization & administration , Physical and Rehabilitation Medicine , Rehabilitation/organization & administration , Rehabilitation , Health Services Needs and Demand , SpainABSTRACT
OBJECTIVE: To analyze our experience in the management of complications of ureteroenteric reimplantation in patients undergoing urinary diversion by endourological techniques or open surgery, in order to identify a useful algorithm that takes the oncologic prognosis into account, as well as the probability of success. METHODS: A retrospective study was conducted on 136 patients who had undergone urinary diversion from 1987-1998. Of these, 126 had transitional cell carcinoma, two had infiltrating carcinoma, two had a benign condition and 6 had undergone urinary diversion for patient comfort without cystectomy. The following techniques were utilized: cutaneous ureteroileostomy or Bricker technique (104 patients), Mainz neobladder (10 patients), ileal neobladder (15 patients), colonic conduit (5 patients) and cutaneous ureter (2 patients). RESULTS: Overall, 56 patients (41%) had some type of alteration at the ureteroenteric reimplantation site, but only 36 (26%) required intervention. The reimplantation techniques utilized were: the Bricker direct ureteroileostomy (26 patients), Le Duc (6 patients), Leadbetter (3 patients), and the direct cutaneous technique (1 patient). Patient mean age was 67 years (range 53-80). There were 35 males and one female. Seven patients required immediate reimplantation due to a persistent urinary fistula and 29 had late obstruction (more than 3 months), accounting for 21.3% of the cases undergoing urinary diversion. The antegrade endourological approach was utilized in 24 patients (5 nephrostomy alone and 19 stent or balloon dilatation). Dilatation was performed palliatively in 6 cases with extensive tumor spread. Permanent success was achieved in 5 cases (38%) and in spite of the initial success, there were 4 reobstructions. Open surgery was performed in 24 patients (66% of the complicated reimplantations); 5 of these patients had another pathology that warranted laparotomy, 7 required reimplantation early due to a fistula and two patients with a nonfunctioning kidney underwent nephrectomy. Ureteral replacement using the ileum was performed in 4 patients and direct reimplantation to the primary loop was performed in 6 patients. Good surgical results were consistently achieved. CONCLUSIONS: The complication rate of ureteral reimplantation is high in patients undergoing urinary diversion. Endourology has an important role in these cases, particularly in patients with a poor prognosis. Surgery achieves the best results. Although they may entail difficulty, complex cases such as extensive ureteral necrosis can be managed successfully.
Subject(s)
Urinary Diversion/adverse effects , Aged , Aged, 80 and over , Colon/surgery , Female , Humans , Ileum/surgery , Male , Middle Aged , Retrospective Studies , Urinary Diversion/methods , Urinary Fistula/surgeryABSTRACT
The formation of complexes between n-(6-methoxy-8-quinolyl)-p-toluensulfonamide (TSQ) and Zn(II) in methanol has been used as an analytical procedure for Zn(II) determination in biological systems. Using 1 ml cuvettes, the limit of detection of the method was approximately 20 pmoles of Zn(II). Linearity between fluorescence and zinc concentration was obtained up to approximately 1 microM Zn(II). Common multivalent cations present in biological systems like Al3+, Cu2+, Fe3+, Ca2+, and Mg2+, interfered with the measurement of Zn(II) only when present in excess of 20, 33, 60, 500 and 30,000 times the Zn (II) concentration, respectively. In human serum and semen, deproteinization of the samples permitted a good correlation between the TSQ method and the total Zn content determined by atomic absorption measurements. In rat spermatids, deproteinization and Zn (II) determination using the TSQ method gives approximately a 20% underestimation of the total Zn (II) content of the cells as compared to atomic absorption spectrophotometry. The method gives low resolution of Zn (II) peaks when tested as an analytical procedure to measure Zn (II) binding to protein fractions eluted during column chromatography.
Subject(s)
Aminoquinolines/analysis , Tosyl Compounds/analysis , Zinc/analysis , Animals , Cations/analysis , Chromatography, Gel , Humans , Hydrogen-Ion Concentration , Male , Methanol , Rats , Sensitivity and Specificity , Spectrometry, Fluorescence , Spectrophotometry, AtomicABSTRACT
In a study of patients suffering from craniosynostosis various pre- and post-operative parameters were identified that may affect subsequent intellectual capacity. In particular, facial malformations appeared to be closely correlated with impaired intellectual development. Other parameters included measurement of cranial circumference and volume; their subaverage values correlated with slight mental insufficiency. However, in the pre-operative period they cannot be used as prognostic indices because these relations were statistically not significant. The remaining parameters (neurological and electroencephalographic findings, post-operative re-ossification of the skull, pre-operative digital impressions, CT findings) did not seem to be related to intellectual development.
