Oestrogen and progesterone receptor status in breast cancer and development of endometrial abnormalities.
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Breast Neoplasms↗
Biomedical subjects
Y Shapira
Publications and source records attributed to Y Shapira.
Fatal familial infantile glycogen storage disease: multisystem phosphofructokinase deficiency.
An infant girl of consanguinous Bedouin parents suffered from fatal early onset of progressive generalized muscle weakness. Her older brother suffered from similar weakness and cardiomyopathy, which led to his death at the age of 21 months. A muscle biopsy performed on the propositus at the age of 9 months was PAS-negative, and showed nonspecific myopathic changes. A second muscle biopsy, performed at 21 months of age, a few days before her death, and postmortem study of heart and liver, disclosed excessive extralysosomal glycogen storage and reduced phosphofructokinase-1 (PFK-1) activity. Because the genes encoded for PFK-1 in liver and muscle are located on separate chromosomes, the reduced enzyme activity in both tissues could not be related to a single mutation for this enzyme. Activity of 6-phosphofructose-2-kinase (PFK-2), a recently discovered physiological activator to all PFK-1 isozymes, was normal in the liver. The possibility that this multisystem PFK-1 deficiency may be related to the absence of a yet unknown activator, common to all PFK-1 isozymes, is discussed.
Biopsy↗
Changes in brain polyamine levels following head injury.
The changes in polyamines levels in the brain after closed head injury were studied in rats. At 1 and 15 min, 24 and 48 h after closed head injury cortical tissue from the site of injury, from the contralateral region, and from remote areas were taken. The levels of the diamine putrescine and the polyamines spermine and spermidine were assayed by thin layer liquid chromatography of their dansyl derivatives. Head injury induced a significant increase in putrescine at 48 h at the site of injury and in the frontal lobe of the injured hemisphere, respectively. In the contralateral hemisphere only minor changes in putrescine were found. Spermine and spermidine showed minor changes at that time course. We have previously shown that at 24-48 h after injury, severe edema is found at the site injury. In order to study the role of putrescine in edema formation in this model we treated the traumatized rats with alpha-difluoromethyl-ornithine (DFMO), an inhibitor of ornithine-decarboxylase, the rate limiting enzyme in putrescine biosynthesis. This drug did not affect the level of edema 4 or 48 h after injury although it abolished the increase in putrescine. The effect of DFMO on blood-brain barrier function was studied, using Evans blue extravasation, at the early post-traumatic period (15 min-4 h), where a massive amount of dye is taken up by traumatized brain. No changes in the amount of dye extracted was found after DFMO treatment. On the other hand, DFMO had a beneficial effect on the neurological outcome, as evaluated by a set of clinical criteria.(ABSTRACT TRUNCATED AT 250 WORDS)
Animals↗
Changes in the rate of formation and resistance to reabsorption of cerebrospinal fluid during deliberate hypotension induced with adenosine or hemorrhage.
Adenosine is recommended for induction of deliberate hypotension. Although its effects on brain vasculature and metabolism and intracranial pressure have been reported, its effects on cerebrospinal fluid dynamics have not. In this study the rate of cerebrospinal fluid formation (Vf), resistance to reabsorption of cerebrospinal fluid (Ra), and electroencephalogram (EEG) activity were determined in rabbits before and during decrease of cerebral perfusion pressure (CPP) with intravenous (iv) adenosine or hemorrhage. In the adenosine group (n = 6), Vf and Ra were determined at control CPP, at CPP of 50, 35, and 28 mmHg achieved with iv adenosine, and at CPP greater than 60 mmHg achieved with iv adenosine combined with iv phenylephrine. In the hemorrhage group (n = 6), Vf and Ra were determined at the first four experimental conditions only. Control values for Vf (9 +/- 3 and 9 +/- 4 microliter.min-1, mean +/- SD) and Ra (428 +/- 567 and 412 +/- 144 cmH2O.ml-1.min) did not differ between groups. In the adenosine group, Vf did not change significantly when CPP was decreased. However, in the hemorrhage group, Vf decreased significantly at CPP of 50 and 35 mmHg and became unmeasurable at CPP of 28 mmHg. Ra did not change significantly in either group. An increase of low-frequency (0.5-3.0 Hz) EEG activity and/or decrease of higher-frequency (3.5-30 Hz) EEG activity occurred at CPP of 28 mmHg in the adenosine group and at CPP of 35 mmHg in the hemorrhage group.(ABSTRACT TRUNCATED AT 250 WORDS)
Adenosine↗
Brain edema and neurologic status following head trauma in the rat. No effect from large volumes of isotonic or hypertonic intravenous fluids, with or without glucose.
Disagreement exists regarding the need to restrict the administration of fluid and glucose following head injury to prevent cerebral edema and neurologic deterioration. We examined whether blood osmolality and glucose, neurologic outcome, and the development of brain edema following head trauma were altered by intravenous infusion of large volumes of isotonic or hypertonic fluids that contained or did not contain glucose. Fifty-five rats that survived ether anesthesia and closed head trauma (delivered using a weight drop device) were assigned to one of five groups. In the first group no fluid was infused. In the second group minimal volumes of saline were infused during placement of a jugular vein catheter. In the three remaining groups 10 ml.kg-1.h-1 of either total parenteral nutrition (TPN) (glucose 25%, amino acids 4.25%, 40 mEq/l sodium and 40 mEq/l potassium, 1935 mOsm/kg), dextrose 5% in 0.45% saline (495 mOsm/kg), or Haemaccel (isotonic plasma expander, 298 mOsm/kg) was infused via the jugular vein. Following head trauma and cannula placement, ether was discontinued. Neurologic severity score at 1 and 18 h after head trauma was used to assess neurologic outcome. A score between 0 and 6 was assigned by an observer who was blinded as to the experimental groups, with 0 representing no neurologic damage and 6 representing severe damage. Specific gravity of brain tissue samples containing gray matter and subcortical white matter from the traumatized and contralateral hemispheres was measured at 18 h after head trauma to determine the development of brain edema. There were no statistically significant differences in neurologic outcome and brain edema between the groups.(ABSTRACT TRUNCATED AT 250 WORDS)
Animals↗
The evidence that a serotonergic mechanism plays an important role in cryogenic brain injury: are the results conclusive?
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Animals↗
Methylprednisolone does not decrease eicosanoid concentrations or edema in brain tissue or improve neurologic outcome after head trauma in rats.
Methylprednisolone was recently reported to significantly improve motor and sensory function after acute spinal cord injury in patients. Our study was designed to determine whether methylprednisolone exerts a beneficial effect after head injury. Diethyl ether-anesthetized rats were assigned to receive surgery with no cranial impact and no methylprednisolone (group A, n = 13); surgery with no cranial impact and intraperitoneal methylprednisolone (greater than or equal to 60 mg/kg) (group B, n = 8); surgery with cranial impact and no methylprednisolone (group C, n = 8, and group E, n = 8); or surgery with cranial impact and methylprednisolone (greater than or equal to 60 mg/kg) (group D, n = 15, and group F, n = 13). Neurologic severity score was determined at 1, 2, 4, and 24 h (when appropriate) after injury, and brain tissue eicosanoid levels and cerebral edema were determined when the animals were killed (4 h after injury in groups C and D and 24 h after injury in groups E and F). Treatment with methylprednisolone did not improve neurologic severity score or edema formation and did not alter brain tissue levels of prostaglandin E2, thromboxane B2, or 6-keto-prostaglandin F1 alpha at any time period. The authors conclude that methylprednisolone does not exert a beneficial effect on brain tissue edema or functional activity after cranial impact in rats.
Animals↗
Diagnosis and treatment of primary and recurrent retroperitoneal liposarcoma.
We retrospectively reviewed 16 patients in whom primary retroperitoneal liposarcoma was diagnosed and treated. These patients were classified according to the first definitive surgical procedure employed: complete excision with or without radiotherapy; partial excision followed by radiotherapy; only biopsy of tumor followed by radiotherapy. Distribution of tumors according to histologic type was: well differentiated myxoid type, 10; poorly differentiated myxoid type, 4; and mixed type, 2. The main factor in determining resectability was extent and fixation of tumor to vital structures. Recurrent retroperitoneal disease developed in four patients all of whom underwent secondary intervention. We concluded from our experience that complete surgical excision is the most effective primary therapeutic approach for patients with primary and recurrent retroperitoneal liposarcoma.
Adult↗
Primary fibromyalgia and the chronic fatigue syndrome.
Thirty-three primary fibromyalgia patients were investigated for chronic fatigue syndrome symptoms. Significant fatigue was reported by 21/33 patients (63.6%), and patients reported various flulike symptoms, yet only 7/33 patients (21.2%) fulfilled criteria for the chronic fatigue syndrome. Only one patient reported painful lymph glands and four patients reported fever. Thus, symptoms of painful glands or fever might serve as clinical indicators, distinguishing between fibromyalgia and the chronic fatigue syndrome.
Diagnosis, Differential↗
Muscle carnitine deficiency in patients using valproic acid.
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Carnitine↗
An autosomal recessive form of benign familial neonatal seizures.
We present a consanguineous sibship with benign familial neonatal seizures. The mode of transmission of the disorder in this family seems to be autosomal recessive, which is contrary to the usual autosomal dominant type. Linkage analysis failed to show tight linkage between the disease locus and the autosomal dominant locus assigned to chromosome 20q. We thus conclude that benign familial neonatal seizures is a genetically heterogeneous type of epilepsy.
Chromosomes, Human, Pair 20↗
Deglutition syncope with coexistent carotid sinus hypersensitivity.
A 63-year-old man had symptomatic deglutition-induced atrioventricular (A-V) block. There was also a coexistent mixed type carotid sinus hypersensitivity presenting as A-V block. No A-V nodal dysfunction was revealed during electrophysiologic studies. The vasodepressor response to carotid massage implies a central vagal hyperresponsiveness, which can also explain the cardioinhibitory responses to swallowing and carotid sinus massage, both possibly unmasked by posterior myocardial infarction.
Blood Pressure↗
Genetic homogeneity between acute and chronic forms of spinal muscular atrophy.
The childhood-onset spinal muscular atrophies (SMAs) describe a heterogeneous group of disorders that selectively affect the alpha motoneuron. We have shown that chronic childhood-onset SMA (SMA II and III) maps to a single locus on chromosome 5q. Acute SMA (SMA Type I/Werdnig-Hoffmann/severe/infantile) is the main cause of heritable infant mortality. Mapping the acute SMA locus by conventional methods is complicated by the rapidly fatal course of the disease and its recessive mode of inheritance. We present here the typing of four inbred acute-SMA families with DNA markers on chromosome 5q and analysis of these together with acute families from our previous study to demonstrate genetic homogeneity between the acute and chronic forms of SMA. The data indicate that the acute SMA locus maps to chromosome 5q11.2-13.3. Two families seem unlinked to 5q markers, raising the possibility of genetic heterogeneity or disease misclassification within the acute and chronic family sets.
Acute Disease↗
Significance of the open opercular sign.
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Atrophy↗
Muscle involvement in mucolipidosis IV.
A 15-month-old boy, thought to have a congenital myopathy, was subsequently diagnosed as having mucolipidosis type IV, with typical membranous inclusions in muscle fibers. Involvement of skeletal muscle in this lysosomal storage disease may explain the motor delay and hypotonia that are its most common presenting signs.
Conjunctiva↗
Protective effect of MK801 in experimental brain injury.
The effect of a noncompetitive N-methyl-D-aspartate (NMDA) receptor antagonist, MK801, was studied in a model of closed head injury in rats. Head trauma (HT) was induced over the left cerebral hemisphere by a calibrated weight-drop device. One or 3 h later, MK801 in saline was given i.p. in a single bolus of either 1, 3, or 10 mg/kg. The rats were killed at 4, 24, or 48 h after HT. Cortical tissue samples were taken from the injured zone and from the corresponding region of the contralateral hemisphere and analyzed for specific gravity (SG) by linear gradient columns. The neurological status of the traumatized rats was evaluated by a neurological severity score (NSS) 1 h after trauma and just before death. Pathological evaluation, based on size and severity of the lesion, was performed 24 and 48 h after HT on control and MK801-treated rats. A dose of 3 mg/kg MK801 given 1 h after trauma effectively prevented the reduction in tissue SG only at 24 h. The NSS could not be evaluated at 24 h after trauma because of the sedating effect of the drug. At 48 h posttrauma, however, the drug significantly improved the neurological state of the rats. No significant difference was found in the pathological score between treated and untreated rats. The results demonstrate neuroprotective properties of MK801, as expressed in two different variables--reduced edema formation and improved neurological recovery after HT. These findings support existing evidence that pharmacological intervention with NMDA receptor antagonist after head injury may be of clinical value in the management of head-injured patients.
Animals↗
Antiproteinuric effect of captopril in a patient with lupus nephritis and intractable nephrotic syndrome.
A 22 year old woman presented with lupus nephritis, hypertension, and intractable nephrotic syndrome. Albumin and furosemide given intravenously was ineffective. Captopril administered in a daily dose of 62.5 mg was associated with a reduction in proteinuria from 28 g/24 hours to 11.5 g/24 hours over 10 weeks, resulting in a weight reduction of 16 kg. This was achieved with relative preservation of renal function. Captopril should be considered in the treatment of intractable proteinuria in patients with lupus nephritis, or when cytotoxic drugs are refused, because of its efficacy and relative safety. Captopril should, however, be used as an adjunct and not as a substitute for standard treatment.
Adult↗
Myopathological findings in thalassemia major.
In thalassemia major (TM) one third of patients suffers from muscle wasting, weakness and cramps. Six patients with TM were studied. All had muscle wasting and proximal weakness; serum levels of vitamin E were low (0.6-7.0 micrograms/dl) while CPK, LDH and aldolase were normal. EMG revealed low-amplitude short-duration polyphasic potentials in 3 patients and normal activity in 3 others. Nerve conduction velocities were normal in 3 patients studied. On muscle biopsies, moderate variation in fiber size with fiber atrophy and preponderance of type 1 fibers were discovered. Our findings confirm the existence of nonspecific myopathic changes in TM. Chronic vitamin E deficiency should be considered in the pathogenesis of the myopathy in TM.
Adolescent↗