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PubMed1999

[A case of multiple sclerosis with abnormal single photon emission computed tomography (SPECT)].

A case of a 38-year-old woman with multiple sclerosis (MS) is reported. At 36 years of the age, she was admitted to our hospital because of developing unstable gait and clumsiness in her hands. After intravenous and oral administration of steroid, her neurological symptoms improved gradually. At 38 years of the age, she was readmitted because of recurrence. A neurological examination revealed severe left sided limb ataxia and trunkal ataxia. No abnormal finding was demonstrated in cranial MRI at the first and second admission. Single photon emission computed tomography (SPECT) using 123I-IMP that was performed at the second admission showed an increased accumulation of 123I-IMP in the left cerebellar hemisphere on the 14th day from the neurological onset. After the therapy of steroid, her neurological signs improved and SPECT showed no abnormality on the 62nd day. Seven months after the second episode, she was readmitted because of the same neurological symptoms and T2 weighted MRI revealed multiple high intensity area in the pons and midbrain. She was diagnosed as having definite MS. These findings in SPECT may suggest the inflammatory process of the cerebellum in the case of MS as well as acute cerebellar ataxia.

Adult↗
PubMed2002

Dynamic upper airway changes and arterial blood gas parameters during treadmill exercise.

The primary goal was to investigate the relationship between dynamic upper airway abnormalities and arterial blood gas tensions during exercise. Horses that completed a high-speed treadmill examination consisting of upper-airway videoendoscopy, blood gas evaluation and electrocardiogams and, postexercise, echocardiograms and tracheal washes, were included. An age-matched group of fit, healthy Thoroughbreds, trained to run on a high-speed treadmill, served as controls for blood gas values at specific exercise speeds. One hundred and nineteen horses completed the treadmill examination. Sixty (50%) were Thoroughbreds (TB), 51 (43%) Standardbreds (STD) and 8 (7%) other breeds. Mean +/- s.d. age TB 3.8 +/- 2.2 years and STD 4.0 +/- 1.7 years, with no gender predilection. Fifty-four horses (45%) had abnormal upper respiratory tract (URT) abnormalities alone or in combination with abnormalities in another body system. Thirty-eight (70%) were TB, 14 (26%) were STD and 2 (4%) were other breeds. Of these, 24 (45%) had exercising PaO2 values significantly lower than those observed in healthy TB. Nineteen (35%) horses also had significantly elevated exercising PaCO2. Only 14 (12%) horses had abnormal clinical findings in the URT alone, and of these, only 3 (21%) had an abnormally low PaO2 and/or elevated PaCO2. Multiple URT abnormalities were more commonly associated with abnormal exercising blood gases than were single disorders, but pharyngeal collapse (PC) was much more commonly associated with abnormal values if only one disorder was detected. Fifty-five percent (n = 65) of all cases admitted had no evidence of URT disease. Twenty-two (35%) were TB and 37 (57%) were STD. Twenty (31%) of these had abnormally low PaO2 and 14 (22%) had elevated PaCO2 values. Seventy percent (14) of the horses with abnormal PaO2 were STD, while almost 80% (11) of the horses with elevated PaCO2 were STD. These data suggest that dynamic URT dysfunction can adversely affect gas exchange during exercise. While multiple abnormalities were more commonly associated with gas exchange problems than were single disorders, pharyngeal collapse, either alone or in combination with other URT problems, was the disorder most frequently associated with blood gas abnormalities. Additionally, URT disease was more commonly seen in TB, and the proportion of URT diagnoses in horses with abnormal blood gases reflected this percentage, while STD without URT disease had a much higher incidence of abnormal blood gases than did TB without URT abnormalities.

Animals↗
PubMedDate not supplied

Multiple pituitary hormone abnormalities, fever, behavioral problems, seizures and apnoic spells in a 6-year old girl.

UNLABELLED: A 6-year old girl was examined having two years previously presented a transient Cushing's syndrome, followed by recurrent hyponatremia, attributed to inappropriate ADH secretion (SIADH). The brain MRI showed no abnormalities on repeated examinations, except for a suggestion of empty sella syndrome. During the past two years she also presented recurrent episodes of a prolonged febrile illness of unknown origin. All investigations related to infectious, autoimmune neoplastic diseases, histiocytosis-X or neurosarcoidosis were negative and the fever was characterized as central. The patient also presented episodes of tonic-clonic seizures, myoclonias and behavioral problems (alternating states of irritability, sleepiness and apathy, optic and hearing illusions and phobias) with or without hyponatremia. Her cerebrospinal fluid (CSF) examination was not indicative of encephalitis and the encephalogram (EEG) showed only slowing of background activity. At the age of 4.75 years she, started to have recurrent episodes of hypopnoea/apnoea with severe desaturation and hypercapnia, occasionally requiring intubation and ventilation. She also developed unilateral miosis corneal ulceration and bilateral ptosis (oculo-sympathetic paresis). Repeat brain MRI and CT scans of the mediastinum excluded organic causes of apnoeas and of oculo-sympathetic paresis, such as neuroblastoma or lymphoma. Furthermore, on a 24 hour electrocardiogram recording, using power spectral analysis, significantly reduced heart rate variability was observed, by comparison with age-specific normal ranges. Thus the apnoeas, ptosis, miosis and temperature instability were attributed to autonomic dysfunction. During the same period, the patient presented significant growth retardation and growth hormone (GH) deficiency was confirmed during two provocative tests (peak GH levels: 3.1 and 2.9 ng/ml (normal>10). Moreover, thyrotropin (TSH) deficiency and persistent hyperprolactinemia were detected. She was started on hGH and thyroxine. She was also put on fluid restriction and increased sodium intake for her SIADH. She was advised to use O2 administration by mask in case of apnoeas. The child died at age 6 6/12 years as a result of apnoea during sleep. IN CONCLUSION: Multiple pituitary hormonal abnormalities, together with symptoms of autonomic neuropathy (apnoeas, ptosis, miosis, tachycardia, temperature instability) and encephalopathy (seizures, myoclonias and behavioral problems) developed in a 4-year old girl. The suggested diagnoses were: 1. Neurometabolic disorder, 2. Mitochondrial disorder, 3. Post infectious autoimmune process.

Journal Article↗
PubMed1992

[Computerized analysis in the study of multiple congenital defects connected with chromosome abnormalities: phenotype-karyotypic relations and genetic markers].

Computerized comparisons of phenotypes observed in different kinds of chromosomal imbalance and presented in the form of sparse matrices of traits were made to study the specificity of the indicated phenotypes, the possibility of differential diagnosis of the clinically similar forms, the presence of genetic markers, and the correspondence of the compared phenotypes to syndrome criteria. Stable enough, though variable trait associations characteristic of definite forms of imbalance of chromosomes 4, 5 and 9 were revealed, which were especially manifest when the respective trait frequency profiles were compared. Phenotypic distinction of 9p- and 11q-segmental monosomies was demonstrated and respective "phenotypic nuclei" were isolated. It has been shown that reliability of identification increases when the case to be analyzed is compared with a large enough number of primary descriptions. Analysis of 35 cases of 4p-segmental monosomies allowed the conclusion that Wolf-Hirschhorn syndrome is associated with deletion within 4 (p14-pter) region.

Abnormalities, Multiple↗
PubMed1977

Multiple hypothalamic-pituitary abnormalities in an adolescent girl with galactorrhea.

A patient with multiple hypothalamic abnormalities is presented who had galactorrhea at seven years of age followed ten years later by secretory deficiencies of growth hormone, TSH, and gonadotropins. There was no clinical evidence of a mid-brain tumor. Patients presenting with galactorrhea and amenorrhea associated with hyperprolactinemia may develop additional hypothalamic malfunctions over a period of several years and should be observed carefully for appearance of them as well as for evidence of brain tumors.

Adolescent↗
PubMed1994

Chromosomal breakage in human spermatozoa, a heterozygous effect of the Bloom syndrome mutation.

The chromosome complements of 662 spermatozoa produced by the three fathers of individuals with Bloom syndrome (BS) were analyzed to determine whether the BS mutation could affect chromosome segregation and the frequency of aneuploidy in sperm. The frequency of numerical abnormalities was not significantly different from that in normal controls studied in our laboratory, but the frequencies of structural abnormalities were significantly increased in two of the men, 14.3% and 15.9%, versus 8.6% in controls. More striking was the increase in these two men of cells with multiple structural abnormalities: 8.1% and 6.7% with multiple abnormalities, versus 2.3% in controls.

Abnormalities, Multiple↗
PubMed2004

Signalling molecules and cytokine production in T cells of multiple myeloma-increased abnormalities with advancing stage.

T-cell immune dysfunction in patients with malignant tumours has been attributed to the altered expression of components of the T-cell receptor (TCR)/CD3 complex and their associated intracellular protein tyrosine kinases. In this study, four-colour flow cytometry was applied to study the surface bound molecules TCRalphabeta, CD28, CD152 and CD154 involved in T-cell signalling and the signal transduction molecules CD3zeta, p56lck, p59fyn, ZAP-70 and phosphatidyl-inositol-3 kinase (PI3-k) as well as the intracellular cytokines interferon-gamma (IFN-gamma), interleukin (IL)-4 and IL-2 as a functional read-out of non-stimulated and superantigen (staphylococcus enterotoxin B)-stimulated blood T cells of multiple myeloma (MM) patients at different stages of the disease. Multiple abnormalities were demonstrated in the CD4 and CD8 populations, both under non-stimulated and superantigen-stimulated conditions. There was a marked reduction, particular in advanced stage MM, in the proportion of CD4 and CD8 cells expressing CD28, CD152, CD3zeta, p56lck, ZAP-70 and PI3-k. The level of intracellular T-cell cytokines (IFN-gamma, IL-2 and IL-4) was normal or increased in non-stimulated cells but activation-induced cytokine production was impaired. These results illustrated profound and multiple T-cell signalling defects, from the surface and down-stream, consistent with involvement of a master T-cell function, especially in advanced stage MM. These data should be taken into consideration when developing immune-based therapeutic approaches and when applying new emerging technologies that aim to restore T-cell functions.

Aged↗
PubMed2002

Long-lasting intestinal bleeding in an old patient with multiple mucosal vascular abnormalities and Glanzmann's thrombasthenia: 3-year pharmacological management.

A 75-year-old woman with Glanzmann's thrombasthenia was admitted because of persistent melaena. Endoscopic examination showed multiple angiodysplastic lesions, with active bleeding in small and large bowel. Electro-coagulation of some lesions, octreotide, conjugated oestrogens and selective embolization of jejunal vessels did not change transfusion requirements. After 8 month-transfusions, ethinylestradiol + norethisterone in association with octreotide was started, leading to no transfusion over the following 9 months. Bleeding recurred after withdrawing octreotide and substituting ethinylestradiol + norgestrel for the ethinylestradiol + norethisterone combination. Re-introduction of octreotide did not improve bleeding; however, a reduction of transfusion requirement was observed when the ethinylestradiol + norethisterone pill was re-administered. The association of octreotide and of an oestrogen-progesterone combination was helpful in the difficult management of recurrent bleeding in this patient with diffuse gastrointestinal vascular abnormalities and a severe condition predisposing to bleeding.

Aged↗
PubMed2003

Multiple organ pathology, metabolic abnormalities and impaired homeostasis of reactive oxygen species in Epas1-/- mice.

Hypoxia-inducible factor (HIF) transcription factors respond to multiple environmental stressors, including hypoxia and hypoglycemia. We report that mice lacking the HIF family member HIF-2alpha (encoded by Epas1) have a syndrome of multiple-organ pathology, biochemical abnormalities and altered gene expression patterns. Histological and ultrastructural analyses showed retinopathy, hepatic steatosis, cardiac hypertrophy, skeletal myopathy, hypocellular bone marrow, azoospermia and mitochondrial abnormalities in these mice. Serum and urine metabolite studies showed hypoglycemia, lactic acidosis, altered Krebs cycle function and dysregulated fatty acid oxidation. Biochemical assays showed enhanced generation of reactive oxygen species (ROS), whereas molecular analyses indicated reduced expression of genes encoding the primary antioxidant enzymes (AOEs). Transfection analyses showed that HIF-2alpha could efficiently transactivate the promoters of the primary AOEs. Prenatal or postnatal treatment of Epas1-/- mice with a superoxide dismutase (SOD) mimetic reversed several aspects of the null phenotype. We propose a rheostat role for HIF-2alpha that allows for the maintenance of ROS as well as mitochondrial homeostasis.

Abnormalities, Multiple↗
PubMed1989

[Enlarging of intracranial hemorrhagic lesions and coagulative-fibrinolytic abnormalities in multiple-injury patients].

The clinical course of ten cases of head injury complicated with multiple systemic injuries were studied by comparing two groups divided according to the presence or absence of associated coagulative-fibrinolytic abnormality. All these cases had intracranial hemorrhagic lesions proven by the high density area in the initial CT scan. Five cases showed signs of disseminated intravascular coagulation (DIC) as evidenced by decreased counts of platelet, and/or elevated value of FDP at the time of admission. Four cases out of these five were in a state of hemorrhagic shock. All these five cases showed a subsequent enlargement of intracranial hematoma. Four cases died. Two of them, who had low initial Glasgow Coma Scale (G.C.S) died of uncontrollable increase of intracranial pressure. The other two, who had high initial G.C.S., died of acute renal failure and multiple organ failure. In contrast with these cases, five cases without signs of DIC intracranial hematomas did not enlarge in spite of the similar neurological conditions to the former group. In head injured patients with systemic injury, DIC frequently causes secondary hemorrhage in the intracranial lesions of minor severity.

Adolescent↗
PubMed1988

Clonal chromosomal abnormalities showing multiple-cell-lineage involvement in acute myeloid leukemia.

To determine whether one or more hematopoietic-cell lineages are involved in acute myeloid leukemia (AML), we designed a technique that simultaneously identifies a cell as malignant and determines its lineage. We used numerical clonal chromosomal abnormalities, which are readily detected, to indicate neoplasia, and monoclonal antibodies in an alkaline phosphatase-antialkaline phosphatase detection procedure to identify lineages as granulocytic-monocytic, erythrocytic, or megakaryocytic. Examination of bone marrow from 12 patients with AML showed metaphases of granulocytic-monocytic lineage with abnormal karyotypes in all patients. In seven patients, we also detected abnormal karyotypes in the erythrocytic or megakaryocytic lineage. In all four patients with monosomy 7, both granulocytic-monocytic and erythrocytic cells were affected. Two of four patients with trisomy 8 also had evidence of multiple-lineage involvement, but in two the erythrocytic lineage had normal karyotypes, suggesting an origin at a progenitor-cell stage committed to granulocytic-monocytic development. Multiple-lineage involvement was found in AML both arising de novo (four of five analyzable cases) and following another cancer (three of four analyzable cases). These data demonstrate multiple-lineage involvement in a high proportion of cases of AML and suggest that many cases originate from the multipotent hematopoietic cell or from an earlier progenitor cell.

Adult↗
PubMed2004

Relapsing-remitting multiple sclerosis: metabolic abnormality in nonenhancing lesions and normal-appearing white matter at MR imaging: initial experience.

PURPOSE: To quantify, with three-dimensional proton magnetic resonance (MR) spectroscopy, metabolic characteristics of normal-appearing white matter and nonenhancing lesions in patients with relapsing-remitting multiple sclerosis (MS). MATERIALS AND METHODS: Institutional review board approval and informed patient consent were obtained. Nine patients with relapsing-remitting MS (six women, three men) and nine age-matched control subjects (seven women, two men) were studied with T1- and T2-weighted MR imaging and three-dimensional proton MR spectroscopy at spatial resolution less than a cubic centimeter. Absolute N-acetylaspartate (NAA), creatine (Cr), and choline (Cho) levels were obtained from 171 voxels: 66 from lesions on T2-weighted MR images (43 hypointense and 23 isointense on T1-weighted MR images), 31 from normal-appearing white matter, and 74 from analogous normal white matter regions on images in control subjects. RESULTS: Mean NAA level in hypointense lesions (5.30 mmol/L +/- 2.27 [standard deviation]) was significantly lower (P < or = .05) than that in isointense lesions (7.82 mmol/L +/- 2.28), normal-appearing white matter (7.37 mmol/L +/- 1.71), and normal white matter in control subjects (8.89 mmol/L +/- 1.54). Cho (1.79 mmol/L +/- 0.65) and Cr (5.64 mmol/L +/- 1.50) levels in isointense lesions were indistinguishable from those in normal-appearing white matter (1.74 mmol/L +/- 0.46 and 4.99 mmol/L +/- 0.97, respectively) but were significantly higher (Cho, 20%; Cr, 24%) than those in normal white matter in control subjects (1.44 mmol/L +/- 0.40 and 4.30 mmol/L +/- 1.32, respectively). NAA, Cho, and Cr levels in normal-appearing white matter were significantly different than those in normal white matter in control subjects (NAA, 20% lower; Cho, 14% higher; and Cr, 17% higher). CONCLUSION: Abnormal metabolic activity persists in all MS tissue types. Increased Cr and Cho levels suggest (a) ongoing gliosis and attempted remyelination in isointense lesions on T1-weighted MR images and (b) membrane turnover (de- and remyelination), in addition to increased cellularity (gliosis, inflammation) in normal-appearing white matter.

Adult↗