Orthognathic surgery in pycnodysostosis: a case report.

Pycnodysostosis is an extremely rare genetic osteosclerosis caused by cathepsin K deficiency. It is a human autosomal recessive genetic disorder characterized mainly by osteosclerosis of the skeleton due to decreased bone turnover. It is characterized by short stature, brachycephaly, short and stubby fingers, open cranial sutures and fontanelle, and diffuse osteosclerosis. Multiple fractures of the long bones and osteomyelitis of the jaw are frequent complications. The authors describe an 18-year-old girl with a clinical and radiological diagnosis of pycnodysostosis and the ortho-surgical treatment undertaken. Bimaxillary orthognathic surgery was carried out using rigid fixation and bone grafts. The authors recommend bimaxillary orthognathic surgery as a choice for treating the dentofacial deformities of pycnodysostosis, emphasizing the good and stable results obtained in terms of facial aesthetics and occlusion.

[Value of brain perfusion SPECT in the follow-up of patients surgically treated for chronic adult hydrocephalus syndrome]. / Valor del SPECT de perfusión cerebral en el seguimiento del tratamiento quirúrgico de pacientes con hidrocefalia crónica del adulto.

OBJECTIVE: The aim of this study was to characterize regional cerebral blood flow in patients with Adult Hydrocephalus Syndrome (AHS) and to evaluate the changes in brain perfusion after surgical derivation treatment. PATIENTS AND METHODS: 20 patients with AHS (age: 72 +/- 14, 12 men) were studied before and six months after surgery. All patients underwent a brain perfusion SPECT (99mTc-HMPAO) prior to surgery and at 6 months post-surgery. Semi-quantitative analysis was done for brain uptake: 0=Normal, 1=Mild, 2=Moderate, 3= Severe, 4=No uptake. The severity of ventricular dilatation was assessed by classifying the intensity and extension of subcortical defects: 0=Normal, 1=Mild, 2=Moderate, 3=Severe. The scores of the pre- and post-surgical studies were compared using the Student-t test. RESULTS: A global reduction of brain uptake was observed (mean score 12.85), mainly in frontal, parietal and temporal lobes, with a significant improvement in post surgical studies (mean score 6, p<0,001). After surgery, 16 (80%) of the 20 patients improved brain uptake. In relationship to subcortical uptake, 5 patients showed mild defects, 9 moderate defects and 6 patients presented severe uptake reduction. In post-surgical studies 15 (75%) patients improved almost one degree in the subcortical score and 65% of the patients showed a normal or mild subcortical uptake reduction. CONCLUSIONS: Brain perfusion SPECT is useful in patients with AHS, detecting brain perfusion defects and evaluating cerebral blood flow improvement after shunt operation.

[Virus and demyelination: why suspect that a virus may be involved in the aetiology of multiple sclerosis?]. / Virus y desmielinización: por qué sospechar la implicacion de virus en la etiología de la esclerosis múltiple?

INTRODUCTION: Epidemiological data indicate that environmental factors, possibly infections, are associated with the development of multiple sclerosis. Different viruses are known to produce demyelination in natural and experimental animal infections. In humans some virus cause acute or chronic diseases that course with central nervous system demyelination. A series of virus have been claimed to be etiological agents of multiple sclerosis, although a causal role for any of them has so far been demonstrated. METHOD: The mechanisms of viral demyelination are diverse,ranging from direct destruction of infected oligodendrocytes to triggering autoimmune responses without virus multiplication in target cells. The potential indirect mechanisms of viral demyelination and the heterogeneous histopathology shown in multiple sclerosis patients, suggesting an heterogeneus etiology, might explain why not a single virus has been as yet identified as the cause of this disease. CONCLUSIONS: Viral infections that cause demyelination in animals and humans are briefly reviewed, focusing on the potential myelin destruction mechanisms and obstacles to the identifying viruses that might cause multiple sclerosis.

Virus y desmielinización: ¿por qué sospechar la implicaciónde virus en la etiología de la esclerosis múltiple? / Virus and demyelination: why suspect that a virus may be involved in the aetiology of multiple sclerosis?

Introducción. La epidemiología de la esclerosis múltiple indica la existencia de uno o varios factores ambientales, posiblemente de origen infeccioso. Distintos virus producen desmielinización en infecciones naturales y experimentales de animales. En humanos se conocen virus causantes de enfermedades agudas o crónicas con desmielinización. Por otra parte, varios son los virus que se han asociado a esclerosis multiple sin que todavía se haya demostrado una relación causal para ninguno de ellos. Desarrollo. Los mecanismos por los que producen desmielinización pueden ser variados, desde destrucción directa de los oligodendrocitos a desencadenamiento de respuestas autoinmunes en ausencia de multiplicación vírica en las células diana. Esta diversidad de mecanismos, unido a que la patología de la esclerosis múltiple sugiere una etiología diversa, explica que haya sido difícil identificar los posibles virus conocidos o aún desconocidos implicados en este proceso. Conclusiones. Se revisan los virus animales y humanos causantes de desmielinización, los mecanismos de la misma y las dificultades en la identificación de posibles virus desencadenantes de esclerosis múltiple (AU)

[Memory and epilepsy]. / Memoria y epilepsia.

INTRODUCTION: The neuropsychological literature has shown the presence of memory deficits in patients with epilepsy. These alterations in memory are due to several factors, such as the aetiology of the epilepsy, age at onset of the seizures, the duration of the disorder, and the frequency and type of the epileptic seizures. DEVELOPMENT: These memory defects reflect the structural and functional damage caused by the repeated epileptic seizures and/or the anti-epileptic drugs. Apart from this, neuro-surgical treatment of temporal lobe epilepsy may also lead to memory defects. These will depend on the site and side of the epileptic focus, the level of memory prior to surgery, the age of onset of the epileptic seizures, the chronological age at the time of operation and the reduction in the number of seizures after surgery. In spite of the evidence that memory is affected in patients with epilepsy, this does not mean that all people with epilepsy have these changes. CONCLUSIONS: Neuropsychological examination is of fundamental clinical importance since it allows the evaluation of cognitive function in each patient, and thus permits optimization of both the pharmacological treatment and intellectual and physical performance.

[Neuropsychological involvement in childhood epilepsy]. / Afectación neuropsicológica en la epilepsia infantil.

Children with epilepsy are at risk for developing learning problems. The poor academic achievement shown by children with epilepsy may result from the underlying cognitive deficits. The study of such problems reveals the implication of several factors that determine the nature and degree of the neuropsychological defects. Among the most frequently reported factors are epileptic factors such as age of onset, type of seizures, duration, localization of cerebral dysfunction, frequency, antiepileptic treatment, and etiology.

[Colorectal cancer in patients over the age of 80 years]. / Le cancer colo-rectal chez les sujets de plus de 80 ans.

Between January 1, 1973 and December 31, 1986, 1.734 patients underwent colorectal resections for carcinoma. The patients were divided into two groups: group I included 163 patients > 80 years on first presentation; group II comprised 1.571 patients < 80 years. The total perioperative mortality rates of the elderly and younger group were 15.3 percent and 5 percent respectively (p < 0.001). The surgical mortality rates in group I were 7.4 percent after elective operations versus 4.5 percent in group II and were not statistically different. Emergency surgery was associated with a significantly higher incidence of perioperative deaths at any age (p < 0.001). In the elderly group, most deaths (88%) resulted from complications of coexisting medical disorders or thrombo-embolic complications. The 5 year survival for the young and elderly groups were 46.2 percent and 35 percent respectively (p < 0.05). However, excluding patients dying from nonmalignant disease, the 5 year survival rate did not differ significantly between the two groups of patients (49.5 percent versus 42.2 percent).

[Problems posed by the inferior vena cava in liver transplantation]. / Problemes posés par la veine cave inférieure en transplantation hépatique.

On the basis of a 200-case series, we report about the problems posed by the inferior vena cava for liver transplantation, and about the means implemented to solve these problems. Before hepatic transplantation, agenesia of the vena cava, which was encountered once, did not prevent grafting. During transplantation, the inferior vena cava posed problems due to its size or to the approach. These were solved using an extracorporeal venovenous shunt, which we advocate to systematically use for liver transplantation. Following transplantation, in addition to hemorrhages, the problems posed by the IVC included supra- or infrahepatic anastomotic stenoses (2 cases) and infrarenal, retrohepatic or suprahepatic thromboses (2 cases). Their repair again resorted to a venovenous shunt, for which we specify the strategy of use.

[Pancreas transplant]. / Trasplante de páncreas.

Pancreas transplantation offers the possibility of preventing the development and progression of diabetic lesions by adequate control of hydrocarbon metabolism. Moreover, the diabetic patient is freed from dietary and physical restrictions, as well as from insulin treatment. However, this is achieved at the expense of an immunosuppression not always free of risk. For this reason, up to now, the transplantation has been reserved to those patients at a risk higher than that of immunosuppression: uremic patients who also require a kidney transplantation, patients suffering of preproliferative retinopathy, and those patients with urine protein above 150 mg/24 hours but less than 3 g/24 hours. The introduction of cyclosporine has greatly improved the transplantation results, achieving a 53% actuarial survival of the graft per year. Out of the different technics used, the one that yields best results is the transplantation of the whole organ, deriving the exocrine secretion to the urinary bladder. This method also enables early diagnosis of graft rejection by monitoring urine amylase.

Occupation, tobacco use, coffee, and bladder cancer in the county of Mataro (Spain).

This report presents the results of an epidemiologic case-control study. The study includes 58 cases and 116 controls from both sexes, selected from the Admission Register of the Hospital and from the Death Registry Office of the local city authorities. Controls have been matched to cases by age, sex, place of residence and source of selection. The results demonstrated no increased risk associated with coffee consumption. Habitual smokers present a 2.3 times higher risk than nonsmokers. The estimated relative risk for occupation standardized by age and smoking habit, is 5.5. A multiplicative effect of the simultaneous action of smoking and occupational exposure has been observed to be an estimated relative risk of 11.7. The attributable risk of the population has been estimated to be 39% for smokers and 12% for occupational exposure. A strong association was found between bladder cancer and occupational exposure to carcinogenic substances, especially in the dye and print textile industries.