Granulocytic sarcoma of the brain in a patient with acute myeloid leukemia.

Granulocytic sarcoma is extramedullary tumor composed of immature leukemic cells most frequently located in close proximity to bone, but it also can be found in the skin, breast, gastrointestinal tract, ovaries and brain. Granulocytic sarcoma may arise during the course of leukemia or precede its development in the bone marrow. The majority of reported cases of granulocytic sarcomas in acute myleoid leukemia have chromosome translocation t(8;21). We report a 46-year-old man with acute myeloid leukemia, type M2 involving the marrow and peripheral blood and chromosome t(8;21) who developed granulocytic sarcoma in the brain, as a first manifestation of relapse 6 months after complete remission was achieved. During a neurosurgical operation a cortically located tumour (3.5 x 5 cm) in the brain was partially removed. Histology showed tumor consisted of homogenous infiltrate of blasts, admixted with more mature haematopoietic cells. The blasts have large round to oval nuclei, delicate chromatin, one or more small well-defined nucleoli and scant basophilic cytoplasm. Immunohistochemistry showed that blast cells were myeloperoxidase positive, confirming the diagnosis of myeloblastic sarcoma in the brain. The patient died two days after surgery.

Rett syndrome: an analysis using Sartwell's incubation period model.

Evidence suggests that Rett syndrome is a genetic disorder; however, an etiologic genetic model has yet to be identified. The purpose of this study was to apply a statistical model, Sartwell's incubation period model, to estimate the incubation period of Rett syndrome and postulate further on the etiology of Rett syndrome. Sartwell's model was used to test the hypothesis that the age of onset of developmental regression distributions approximate a logarithmic normal model and thus the etiologic factors of Rett syndrome occur in utero or prior to conception. Data from three case-series of Rett syndrome from different geographic regions were used for the analyses. Curves resulting from the analyses demonstrated a good approximation to the logarithmic normal distribution, indicating a good fit of the data to Sartwell's model. In conclusion, the incubation period of Rett syndrome fits the logarithmic normal model, which is consistent with the theory that a major causal factor for Rett syndrome most likely occurs in utero or prior to conception, eg, a defective gene.

Comparison of 2-year weight loss trends in behavioral treatments of obesity: diet, exercise, and combination interventions.

OBJECTIVE: The effects of three cognitive-behavioral weight control interventions for adults were compared: diet only, exercise only, and a combination of diet and exercise. This article reports 2-year follow-up data. DESIGN: The three interventions were compared in a randomized, experimental design. SUBJECTS: A total of 127 men and women who were at least 14 kg overweight (according to height-weight tables) were recruited from an urban community and assigned randomly to the experimental conditions. INTERVENTION: The dietary intervention was a low-energy eating plan adjusted to produce a 1 kg/week loss of weight. The exercise component involved training in walking and a home-based program of up to five exercise periods per week. There were 12 weekly instructional sessions, followed by 3 biweekly and 8 monthly meetings. All sessions were led by registered dietitians. OUTCOME MEASURES: Changes in body weight. STATISTICAL ANALYSES: Analysis of variance for weight changes and repeated measures analysis of variance for weight change trends. RESULTS: At 1 year, no significant differences were noted among the three groups. The diet-only group lost 6.8 kg, the exercise-only group lost 2.9 kg, and the combination group lost 8.9 kg (P=.09). During the second year, the diet-only group regained weight--reaching 0.9 kg above baseline; the combination group regained to 2.2 kg below baseline; and the exercise-only group regained slightly to 2.7 kg below baseline (P=.36). Repeated measures analysis of variance showed a group-by-time interaction (P=.001); data for the dieting groups best fit a U-shaped regain curve (P=.001). APPLICATIONS: The results suggest that dieting is associated with weight loss followed by regain after treatment ends, whereas exercise alone produced smaller weight losses but better maintenance. The large outcome variability and unequal difficulty of the regimens across groups limit the generalizability of the findings.

Population-based registries using multidisciplinary reporters: a method for the study of pediatric neurologic disorders.

Few registries are available for evaluating population differences for rare, newly, or ill-defined pediatric neurologic disorders. The purpose of this article is to present standard methodologies for establishing a population-based registry and evaluating the completeness of a registry's case ascertainment. The Texas Rett Syndrome Registry (TRSR) is used as a model. The combination of health care and education resources has identified approx. 89-100% of the Rett syndrome cases in Texas. Cases reported by non-physician sources, although older on average (10.7 vs 7.7 years of age), did not differ by other demographic characteristics from those reported by physicians. Non-physician health and education professionals participated with the TRSR at a significantly higher rate than physicians, 89 and 37% (p < 0.05), respectively. Capture-recapture techniques, both two-sample and log-linear modeling, were used to quantitatively evaluate case ascertainment. Standardized national and international population-based registries could be the basis of an initiative to identify the etiology and perhaps preventive measures for pediatric neurologic disorders.

[Craniopharyngiomas in children and adolescents]. / Kraniofaringeomi kod dece i adolescenata.

In sixtheen children and adolescents primary operation of craniopharyngioma over the period from January 1987 to February 1992 was carried out. The age of these patients ranged from nine months to eighteen years. There were nine females and seven males. Microsurgical operation was performed in fifteen cases, and stereotaxic biopsy with intracystic instillation of Y90 in one patient. Within the first month after the operation three patients died (18.8%). The total mortality was 31.2%. In nine out of thirteen patients tumour recurrence occured (69%). No tumour recurrence was noted in four patients: one after radical surgery, two after subtotal resection of craniopharyngioma, and a boy with stereotaxic biopsy and instillation of Y90. Second operation for tumour recurrence was carried out in three patients. Two children were lost from evidence, and four were subjected to radiotherapy. The authors analyse operation proceedings and results of treatment. They work out criteria for the optimal treatment, pointing out the neuroradiological, anatomosurgical and histopathological characteristics of these tumours.

Rett syndrome: controlled study of an oral opiate antagonist, naltrexone.

HYPOTHESIS: The opiate antagonist, naltrexone, will be beneficial in Rett syndrome. SUBJECTS: Twenty-five individuals fulfilling the criteria for Rett syndrome. METHOD: Randomized, double-blind, placebo-controlled crossover trial with two treatment periods, 4 months each, and an intervening 1-month washout period. Clinical stage, motor and cognitive development, motor-behavioral analysis, neurophysiological parameters (computerized electroencephalographic analysis, breathing characteristics, quantification of stereotyped hand movements, and sleep characteristics), and cerebrospinal fluid beta-endorphin measurements were evaluated at baseline and at the end of each treatment period. RESULTS: Only data from the first period of this study were analyzed due to significant sequence effects in the crossover design. This analysis indicated positive effects on certain respiratory characteristics including decreased disorganized breathing during wakefulness. Four (40%) of the individuals receiving naltrexone progressed one or more clinical stages versus none of the individuals receiving placebo. The adjusted (for baseline value and Rett stage) end of treatment psychomotor test age (Bayley Scales) was significantly higher for the placebo group. There was no significant change for the other parameters. CONCLUSION: Naltrexone may modify some of the respiratory disturbance in Rett syndrome. Declines in motor function and more rapid progression of the disorder suggest a deleterious effect.

Epidemiology of Rett syndrome: a population-based registry.

The Texas Rett Syndrome Registry maintains the largest population-based registry of cases and potential cases of Rett syndrome in the world. The most precise estimate of the prevalence of Rett syndrome of 1 per 22800 (0.44/10000) females aged 2 through 18 years of age was generated from this Registry. In addition, the first prevalence figures for black and Hispanic female cases were estimated. Registry cases are actively ascertained from multiple sources. Registry staff identify presumptive cases from review of information provided to the Registry by the parent or guardian. Preliminary diagnostic evaluation includes standardized review of medical records and videotape of key behaviors. Diagnosis is confirmed at clinical evaluation. The active surveillance system is monitored with the two-source capture-recapture methodology and case ascertainment is projected. The 1990 prevalence estimate of Rett syndrome indicates that the syndrome occurs less frequently than previously estimated. Until a biologic marker for Rett syndrome is identified or a standard definition for an incident case of Rett syndrome is designated, the prevalence of Rett syndrome will remain a major investigative issue of its epidemiology, and the Registry will be an important, systematic mean to gather case material for clinical and laboratory studies providing the foundation for the development of preventive interventions.

Neoplastic angioendotheliomatosis (NAE) of the CNS in a patient with AIDS subacute encephalitis, diffuse leukoencephalopathy and meningo-cerebral cryptococcosis.

A 12-year-old, hemophilic boy died with acquired immune deficiency syndrome (AIDS) after a clinical course characterized by progressive psycho-organic syndrome and opportunistic infections. Postmortem neuropathological examination revealed a cerebral form of neoplastic angioendotheliomatosis (NAE), leukoencephalopathy, giant cell encephalitis and meningo-cerebral cryptococcosis. The most unusual finding was the presence of proliferated neoplastic cells within lumina of some blood vessels throughout the central nervous system (CNS). These cells displayed cytologic features of malignancy and stained positively for common leukocyte antigen. Coronal sections showed diffuse cerebral and cerebellar leukoencephalopathy with most pronounced loss of myelin and axons in deep white matter, while the subcortical arcuate fibers and the corpus callosum were partially spared. In these areas numerous small foci of severe myelin loss were present. Microglial nodules and distinctive multinucleated giant cells (MGC) were numerous. Intracytoplasmic and intranuclear acidophilic inclusions were found in a few multinuclear and mononuclear cells. Close contact between mononuclear and multinuclear cells suggesting their fusion was also observed. As far as we know this is the first case of NAE encountered in AIDS, one of the rare primary cerebral forms and the youngest reported case of NAE up to now. This case could be considered as one proof more that NAE is a special form of malignant lymphoma.

[Malacoplakia of the kidney]. / Malakoplakia bubrega.

Malakoplakia is a rare disease expressed as a special type of inflammatory reaction to infection with various bacteria and fungi. This unusual response is based on defective function of the macrophage system. In malakoplakia infiltrates, most cells are macrophages mixed with lymphocytes, plasma cells and fibroblasts. The macrophages (von Hansemann's histiocytes) with intracytoplasmatic inclusions defined as Micaelis-Guttmann bodies are pathognomonic histological findings. The clinical manifestation of the disease depends on the localisation of lesions, most often in the urinary bladder and the kidney. The authors present a case of renal malakoplakia of in a 32-year-old female patient. The symptoms were not enough characteristic for making the true diagnosis. The diagnosis of malakoplakia was established during autopsy. The histopathological examination revealed von Hansemann's histiocytes and Michaelis-Guttmann bodies in malakoplakia infiltrates.

Serum lipids and demyelination in experimental allergic encephalomyelitis induced by the increased encephalitogenicity of myelin basic protein given with galactocerebrospide.

Cholesterol esters and free cholesterol were determined in the serum of guinea pigs with experimental allergic encephalomyelitis (EAE). EAE was induced by immunization with myelin basic protein (MBP) and galactocerebroside (GC). The results showed an increased content of cholesterol arachidonate and cholesterol linoleate during the period of clinical signs of EAE in comparison with the content of cholesterol esters in EAE induced by MBP without galactocerebroside. The content of free cholesterol was significantly reduced. Histological analyses showed intensive inflammatory lesions and demyelination which were not found in EAE induced by MBP without galactocerebroside.