Friedreich's ataxia presenting with pure sensory ataxia: a long-term follow-up study of two patients

We describe two patients with Friedreich's ataxia whose presenting symptomatology was for years progressive tabetic ataxia. Based upon the initial clinical, electrophysiological and nerve biopsy data, a diagnosis of idiopathic sensory neuropathy was established. Subsequent examination of the kin showed that three sisters of case 1 had Friedreich's ataxia. Upon serial clinical and electrocardiographic study, both patients eventually developed a florid Friedreich's ataxia, including cardiomyopathy. Our findings indicate that at onset Friedreich's ataxia may be indistinguishable from sensory neuropathy and also that serial examination and investigation of kinship are essential steps for accurate diagnosis.     

Results of surgical treatment of hepatic hydatidosis: Current therapeutic modifications

Hepatic hydatidosis is an endemic disease that affects vast segments of the populations of various countries in the Mediterranean region, South America, the Pacific, and temperate zone nations that possess large numbers of sheep. Four hundred and ten patients bearing 561 hydatid cysts were treated at 2 major hospitals in Madrid, Spain in the period 1974–1989. In order to establish the modifications in diagnostic and therapeutic management introduced as a result of modernization of our clinical facilities and improved technological standards, they were divided into 2 groups: group A corresponded to the period 1974–1984, and group B, corresponded to the period 1985–1989. Since no effective parasiticide agent is available, hepatic hydatidosis must be treated surgically. Today's better knowledge and advancements in liver surgery have made it possible to extirpate the cyst completely with little risk and improved results; hepatic resection should only be considered in exceptional cases; aspiration, drainage procedures, or partial resections of the cyst yield inferior results. We have had no relapse of the hydatid disease in the liver or in any other abdominal site.

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Resumen La hidatidosis hepática es una enfermedad endémica que afecta a vastos segmentas de las poblaciones de diversos países de la región mediterránea, Sur América, el Pacífico, y las naciones de las zonas templadas que mantienen grandes rebanos de ovejas. Cuatrocientos diez pacientes con 561 quistes hidatídicos fueron tratados en 2 grandes hospitales de Madrid, España en el período 1974–1989. Con el propósito de establecer las modificaciones en el manejo diagnóstico y terapéutico ocurridas como resultado de la modernización de nuestras facilidades clínicas y de superiores estándares tecnológicos, dividimos la población total de estos pacientes en 2 grandes grupos: grupo A, correspondiente al período 1974–1984, y grupo B, correspondiente al período 1985–1989. Puesto que no existe un agente parasitocida efectivo, la hidatidosis hepática debe ser tratada quirúrgicamente. El mejor conocimiento actual y el avance en la cirugía hepática han hecho posible la extirpatión completa del quiste con bajo riesgo y mejores resultados; la resection hepática debe ser considerada sólo en casos excepcionales; la aspiración, los procedimientos de drenaje o las resecciones parciales del quiste se asocian con malos resultados. En nuestra experiencia no hemos tenido recurrencia de la enfermedad ni en el hígado ni en otros órganos.

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Résumé Le kyste hydatique du foie est une maladie endémique qui touche une partie importante de la population dans différents pays de la région méditerranéenne, en Amérique du Sud, dans le Pacifique, et dans les pays de la zone tempérée qui ont beaucoup de moutons. Quatre cent dix patients porteurs de 561 kystes hydatiques ont été traités dans les deux plus grands hôpitaux de Madrid en Espagne de 1974 à 1989. Pour mesurer les progrès dans le diagnostic et le traitement dus à la modernisation de notre équipement médical et à une meilleure technologie, les patients ont été divisés en 2 groupes chronologiques: groupe A de 1974 à 1984 et groupe B de 1985 à 1989. Comme il n'y a pas actuellement de médicament efficace contre ce parasite, on doit traiter par la chirurgie le kyste hydatique. Aujourd'hui, les connaissances plus étendues et les progrès dans la chirurgie du foie permettent d'enlever complètement le kyste avec peu de risques et avec de meilleurs résultats; la résection du foie ne doit être envisagée que dans de rares cas. Les procédés d'aspiration ou de drainage ou les résections partielles du kyste donne des résultats moins bons. Nous n'avons pas eu de récidive du kyste hydatique, ni au foie ni dans une autre localisation péritonéale.

     

Release of noradrenaline by the ionophore X537A from normal and reserpinized guinea-pig atrium

Summary The effects of ionophore X537A on the release of ³H-noradrenaline and its metabolites from the superfused guinea-pig left atrium were investigated. Concentrations of ionophore of 10 and 30 M greatly increased the release of tritium. Of the total increase in radioactivity elicited by X537A 44% was accounted for as noradrenaline and 50% was due to deaminated metabolites. The ionophore-evoked release of tritium was independent of the extracellular calcium ions and was not affected by agents which modify calcium movements such as verapamil, ryanodine, ruthenium red and tetracaine. X537A released ³H-noradrenaline from extragranular sites in MAO-inhibited atria from reserpine-treated animals and this release was also calcium independent. It is concluded that the ability of X537A to release noradrenaline from vesicular or cytoplasmic sites is not related to its ability to couple with and transport calcium ions through membranes. The ionophore might modify the ionic distribution outside and inside the neuronal membrane which would lead to leakage of the transmitter.     

O2-sensing after carotid chemodenervation: hypoxic ventilatory responsiveness and upregulation of tyrosine hydroxylase mRNA in brainstem catecholaminergic cells

Ventilatory responses to acute and long-term hypoxia are classically triggered by carotid chemoreceptors. The chemosensory inputs are carried within the carotid sinus nerve to the nucleus tractus solitarius and the brainstem respiratory centres. To investigate whether hypoxia acts directly on brainstem neurons or secondarily via carotid body inputs, we tested the ventilatory responses to acute and long-term hypoxia in rats with bilaterally transected carotid sinus nerves and in sham-operated rats. Because brainstem catecholaminergic neurons are part of the chemoreflex pathway, the ventilatory response to hypoxia was studied in association with the expression of tyrosine hydroxylase (TH). TH mRNA levels were assessed in the brainstem by in situ hybridization and hypoxic ventilatory responses were measured in vivo by plethysmography. After long-term hypoxia, TH mRNA levels in the nucleus tractus solitarius and ventrolateral medulla increased similarly in chemodenervated and sham-operated rats. Ventilatory acclimatization to hypoxia developed in chemodenervated rats, but to a lesser extent than in sham-operated rats. Ventilatory response to acute hypoxia, which was initially low in chemodenervated rats, was fully restored within 21 days in long-term hypoxic rats, as well as in normoxic animals which do not overexpress TH. Therefore, activation of brainstem catecholaminergic neurons and ventilatory adjustments to hypoxia occurred independently of carotid chemosensory inputs. O2-sensing mechanisms unmasked by carotid chemodenervation triggered two ventilatory adjustments: (i) a partial acclimatization to long-term hypoxia associated with TH upregulation; (ii) a complete restoration of acute hypoxic responsivity independent of TH upregulation.     

Hamartoma mamario: un tumor infrecuente

We present a case of hamartoma of the breast. This is an infrequent tumour that requires the correct diagnosis to distinguish it from other histopathology types because it has a better prognosis. The characteristic image from a mammogram is useful in its diagnosis.     

Proliferative lesions of oviduct and uterus in CD-1 mice exposed prenatally to tamoxifen

Tamoxifen (TAM) is widely used as adjuvant breast cancer therapy after surgery and as a chemopreventive agent in women of child-bearing age. However, TAM therapy has been shown to result in an increased incidence of endometrial carcinoma in women. The present study was designed to investigate the effects of TAM (5 mg/kg and 7.5 mg/kg body wt) given i.g. to pregnant CD-1 mice (1x/day, days 12 through 18 of gestation) on their female offspring. Progressive proliferative hyperplasia of the oviduct was frequently seen in TAM-exposed offspring, reaching 100% incidence by 52 weeks in both treatment groups. These females also developed progressive proliferative uterine lesions, including moderate/severe cystic endometrial hyperplasia (34-50%) and polypoid adenomas (27-30%) between 53 and 78 weeks. Deciduomas (15%) occurred at young ages (12 and 24 weeks) while leiomyomas (14%), a malignant leiomyosarcoma, and ovarian granulosa cell tumors (14%), were found between 72 and 78 weeks. Our findings thus suggest a strong association between transplacental TAM and reproductive tract abnormalities in female CD-1 mice.      

Hypoglycémie hyperinsulinémique persistante du nouveau-né et du nourrisson

Persistent hyperinsulinemic hypoglycaemia of infancy (PHHI) is the most frequent cause of hypoglycaemia in infancy. Clinical presentation is heterogeneous, with variable onset of hypoglycaemia and response to diazoxide, and presence of sporadic or familial forms. Underlying histopathological lesions can be focal or diffuse. Focal lesions are characterised by focal hyperplasia of pancreatic islet-like cells, whereas diffuse lesions implicate the whole pancreas. The distinction between the two forms is important because surgical treatment and genetic counselling are radically different. Focal lesions correspond to somatic defects which are totally cured by limited pancreatic resection, whereas diffuse lesions require a subtotal pancreatectomy exposing to high risk of diabetes mellitus. Diffuse lesions are due to functional abnormalities involving several genes and different transmission forms. Recessively inherited PHHI have been attributed to homozygote mutations for the beta-cell sulfonylurea receptor (SUR1) or the inward-rectifying potassium-channel (Kir6.2) genes. Dominantly inherited PHHI can implicate the glucokinase gene, particularly when PHHI is associated with diabetes, the glutamate dehydrogenase gene when hyperammonaemia is associated, or another locus.     

Actuarial survival in the premature infant less than 30 weeks' gestation

OBJECTIVE: Because survival from admission to discharge does not provide parents and physicians information about future life expectancy in the premature neonate, we characterized the actuarial survival, defined as the future life expectancy from a given postnatal age, in a large inborn population of premature infants < 30 weeks' gestation. STUDY DESIGN: We determined daily actuarial survival of 1925 inborn infants (23 to 29 weeks' gestation) admitted to the Baylor Affiliated Nurseries from July 1986 through December 1994, stratified by 100-g birth weight and by 1-week gestational-age intervals. RESULTS: In the 501- to 600-g birth weight stratum, actuarial survival improved from 31% at birth, to 61% on day of life 7, and then to 75% on day of life 28; in the 901- to 1000-g birth weight stratum, actuarial survival improved from 88%, to 94%, and then to 98% throughout the same times, respectively. Similar trends were obtained when data were stratified by gestational age. CONCLUSIONS: Survival in the smallest infants improves dramatically during the first few days of life, but there is a significant risk for late death in the smallest of these infants.     

The efficacy of the ketogenic diet-1998: a prospective evaluation of intervention in 150 children

OBJECTIVE: The ketogenic diet is a high-fat, low-protein, low-carbohydrate diet developed in the 1920s for the treatment of children with difficult to control seizures. Despite advances in both the pharmacotherapy and the surgery of epilepsy, many children continue to have difficult-to-control seizures. This prospective study sought to determine the ketogenic diet's effectiveness and tolerability in children refractory to today's medications. METHODS: One hundred fifty consecutive children, ages 1 to 16 years, virtually all of whom continued to have more than two seizures per week despite adequate therapy with at least two anticonvulsant medications, were prospectively enrolled in this study, treated with the ketogenic diet, and followed for a minimum of 1 year. Seizure frequency was tabulated from patients' daily seizure calendars and seizure reduction calculated as percentage of baseline frequency. Adverse events and reasons for diet discontinuation were recorded. RESULTS: The children (mean age, 5.3 years), averaged 410 seizures per month before the diet, despite an exposure to a mean of 6.2 antiepileptic medications. Three months after diet initiation, 83% of those starting remained on the diet and 34% had >90% decrease in seizures. At 6 months, 71% still remained on the diet and 32% had a >90% decrease in seizures. At 1 year, 55% remained on the diet and 27% had a >90% decrease in seizure frequency. Most of those discontinuing the diet did so because it was either insufficiently effective or too restrictive. Seven percent stopped because of intercurrent illness. CONCLUSIONS: The ketogenic diet should be considered as alternative therapy for children with difficult-to-control seizures. It is more effective than many of the new anticonvulsant medications and is well tolerated by children and families when it is effective.