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PubMed1987

Hb Mississippi [beta 44(CD3)Ser----Arg]: a new variant with anomalous properties.

Hb Mississippi was discovered in a 6-year-old Chinese girl with chronic anemia and thalassemia intermedia. Family studies revealed that she had inherited the Hb Mississippi from her father as well as inheriting a gene for beta+-thalassemia from her mother. Electrophoretic analyses of the hemolysate of the father of the father and the proband on polyacrylamide gels at pH 8.6 showed that the abnormal hemoglobin had three distinct mobilities. A similar pattern was also observed by isoelectricfocusing. In addition, multiple abnormal peaks were observed by high performance liquid chromatographic hemoglobin separations as well as high performance liquid chromatographic globin chain separation. Structural analysis of the abnormal hemoglobin demonstrated a single abnormality; the substitution of serine to cysteine at position 44 (CD3) of the beta-globin chain. Since CD3 is on the surface of the beta-globin chain, it was thought that polymerization of the abnormal hemoglobin by disulfide linkages might have been responsible for the anomalous behavior on electrophoresis and high performance liquid chromatography. Gel filtration chromatography on G-200 Sephadex confirmed this supposition and demonstrated that the abnormal globin chain polymerized with itself as well as with other globin chains.

Amino Acids↗

PubMed1980

Lactoferrin deficiency as a consequence of a lack of specific granules in neutrophils from a patient with recurrent infections. Detection by immunoperoxidase staining for lactoferrin and cytochemical electron microscopy.

Neutrophils from a boy suffering from recurrent infections were found to be totally deficient in specific granules when studied by electron microscopy. In contrast, myeloperoxidase-containing azurophil granules were increased in number. This deficiency of specific granules could be detected at the light-microscopic level using an immunocytochemical technique to demonstrate the absence of lactoferrin. Neutrophils also exhibited abnormal nuclear segmentation, nuclear clefts, an abnormally weak cytochemical reaction for alkaline phosphatase, and an increased number of mitochondria and ribosomes. Some granulocytic precursors were abnormal, and many of these cells were phagocytosed by macrophages in the bone marrow. Despite these multiple abnormalities and the history of severe pyogenic infection, the in vitro bactericidal capacity of the neutrophils was within normal limits, and normal degranulation of azurophil granules occurred following phagocytosis. The precise mechanism by which the deficiency of specific granules in this patient led to an enhanced in vivo susceptibility to infection therefore remains obscure. However, attention is drawn to the fact that in three previously described cases of specific granule deficiency a history of recurrent infections was present.

Bacterial Infections↗

PubMed1987

Collagenous abnormalities in the heart of the tight-skin mouse.

The tight-skin (TSK) mouse, a possible animal model for scleroderma, has multiple abnormalities including increased dermal thickness, cardiomegaly, emphysematous lungs, and an enlarged skeleton. Previous investigations have demonstrated an increased collagen and glycosaminoglycan (GAG) content in the skin and lungs of these mice. The present correlative investigation of the biochemical and ultrastructural properties of the heart in the TSK mouse also revealed an increased presence of collagen. Analysis of collagen types in the TSK heart showed there was a shift in the ratio of type I: type III: type V from the normal values. Over 90% of the collagen was type I, while both types III and V were decreased in this organ. The ultrastructural examination of the left ventricle demonstrated extensive accumulations of perivascular and intercellular edema fluid, foci of myocytolysis, and areas of moderately increased collagen deposits within interstitial sites. These findings suggest that an increased collagen deposition (type 1) may be a contributing factor to cardiac enlargement in the TSK mouse.

Animals↗

PubMed1992

[Small cell carcinoma of urinary bladder. A case report].

A 57-year-old male patient was admitted because of a severe lumbar pain and gross hematuria. The rectal examination revealed a fist-sized soft tissue mass in the small pelvic space. A huge non-papillary tumor, which occupied the intravesical space, was found on cystoscopic examination. CEA IAP, TPA, CA19-9 and NSE were abnormally elevated in the serum. The pelvic CT scan shown an enormous polypoid tumor arising from the anterior vesical wall, while no abnormal lesion was found in the head, neck, chest and abdominal CT scans. The bone scintigraphy revealed multiple abnormal accumulations. The transurethral biopsy of the tumor was carried out. The pathological examination revealed homogeneous and small tumor cells arranged in sheet and solid patterns, which were positive for the anti-NSE stain and anti-NF stain, but negative for Grimelius stain. The final diagnosis was small cell undifferentiated carcinoma of the urinary bladder. The patient died of cancer five months after diagnosis.

Carcinoma, Small Cell↗

PubMed1990

Digital subtraction arthrography of the wrist.

Digital subtraction arthrography of the wrist was used to identify abnormalities in eighty-six (60 per cent) of 139 patients during a fifteen-month period. Multiple abnormalities were noted in thirty-four (25 per cent) of the wrists. The clinical signs and symptoms in the eighty-six wrists did not always correlate with the defects that were seen on the arthrograms. Three of five patients who had an isolated tear of the scapholunate ligament, six of thirteen who had an isolated tear of the lunotriquetral ligament, and seven of nineteen who had an isolated tear of the triangular fibrocartilage complex also had signs and symptoms on the opposite side of the wrist. Many of the lesions that were seen on arthrography may have been serendipitous, degenerative, or unrelated to a specific injury. There was a high prevalence of positive ulnar variance in patients who had at least one ulnar abnormality. Capsular tears, most often seen on the radiovolar aspect of the wrist, were best outlined by contrast medium injected into the radiocarpal joint. The arthroscopic findings differed from the arthrographic findings in five of the twenty patients in whom both studies were done. The three-compartment technique of injection is a valuable diagnostic tool. Injections of contrast medium into the distal radio-ulnar joint outlined five of thirteen tears of the triangular fibrocartilage complex that were not seen after injection into the radiocarpal joint. Of the eleven tears that were seen after injection into the radiocarpal joint, five were not seen when contrast medium was injected into the distal radio-ulnar joint.

Adolescent↗

PubMed1985

Mechanisms of human cell neoplastic transformation: X-ray-induced abnormal clone formation in long-term cultures of human diploid fibroblasts.

Early passage cultures of a strain of normal human diploid fibroblasts were exposed to various doses of X-rays. The cells were serially passaged and followed throughout their life span in vitro. G-banded metaphase chromosome preparations were examined at each subculture to determine the presence of abnormal clones, i.e., groups of cells bearing identical chromosomal rearrangements. It was found that X-irradiation induced random chromosomal rearrangements which persisted throughout the life span of the cells. No abnormal clones were observed among the progeny of four nonirradiated cultures, nor in seven of nine cultures exposed to single radiation doses. On the other hand, multiple abnormal clones emerged among the progeny of cells in all five cultures exposed to multiple sequential radiation doses (three doses of 400 or 600 rads each). Evidence of clonal expansion and attenuation and of clonal succession during serial passaging occurred in these populations. In several cases, these clones expanded to include most of the cell population before the cultures became senescent. These findings are discussed in terms of their possible role in the transformation of human diploid cells by radiation.

Cell Transformation, Neoplastic↗

PubMed1993

Two cases of multiple umbilical cord abnormalities resulting in stillbirth: prenatal observation with ultrasonography and fetal heart rates.

Two cases of multiple umbilical cord abnormalities consisting of three separate findings is presented. Both cases contained nuchal cords, knots, and umbilical cord thrombosis. One case had prenatal evidence of these findings by an ultrasonographic study videotaped at 32 weeks' gestation. When multiple umbilical cord abnormalities are diagnosed prenatally in the same fetus, that fetus should be considered to be at high risk; delivery should be considered at the least provocation.

Adult↗

PubMed2002

Use of laboratory evaluation and radiologic imaging in the diagnostic evaluation of children with sensorineural hearing loss.

OBJECTIVE: Laboratory testing and radiologic imaging are commonly used to delineate syndromic from nonsyndromic sensorineural HL (SNHL). The aim of this study was to examine the yield of laboratory tests and radiologic imaging commonly used in the diagnostic evaluation of SNHL in children. STUDY DESIGN: Retrospective analysis of 114 (54 female, 60 male) consecutively investigated children with SNHL between 1998 and 2000 at a tertiary-care university hospital. METHODS: Results of routine laboratory testing to assess autoimmunity, blood dyscrasias, endocrine abnormalities, renal function, infection, and cardiac testing were reviewed. Results of radiologic evaluation were also reviewed. In general, computed tomography (CT) was obtained in patients with symmetric SNHL, whereas magnetic resonance imaging (MRI) with or without CT was obtained in asymmetric SNHL. RESULTS: Laboratory evaluation of the blood did not yield the etiology of SNHL in any patient. Blood tests for autoimmune disease were often positive but did not correlate with clinical disease. Nonspecific elevation of erythrocyte sedimentation rate (ESR) and antinuclear antibody (ANA) was present in 22% of cases. An abnormal electrocardiogram with a prolonged QT interval resulted in the diagnosis of Jervall and Lange-Nielsen syndrome. In the 97 patients who underwent radiologic studies, abnormalities were present in 38 of 97 studies (39%). Isolated inner ear malformations were twice as common as multiple abnormalities with large vestibular aqueducts as the most common isolated finding. CONCLUSION: In the evaluation of children with unexplained SNHL, routine laboratory evaluation should be reconsidered given its low diagnostic yield. However, radiologic abnormalities of the inner ear are common. Identification of inner ear malformations has direct impact on management of these children, suggesting that all children should undergo radiologic imaging as an integral component of evaluation of SNHL.

Adolescent↗

PubMed2005

Lymphomatoid granulomatosis: abnormalities of the brain at MR imaging.

PURPOSE: To retrospectively evaluate the magnetic resonance (MR) imaging features of lymphomatoid granulomatosis in the brain. MATERIALS AND METHODS: The study, including retrospective analysis of data, was approved by the institutional review board of the National Cancer Institute and complied with Health Insurance Portability and Accountability Act. All patients gave written informed consent. Thirty-one patients with pathologically confirmed lymphomatoid granulomatosis were enrolled in a natural history and treatment study at the National Institutes of Health. Twenty-five patients (median age, 50 years; range, 18-62 years; 18 men, seven women) were evaluated with MR imaging of the brain at study entry for the presence of brain lesions and enhancing characteristics. Patients with abnormal findings were reexamined at intervals ranging from 2 to 19 months, as medically indicated. Cytologic analysis and flow cytometry of cerebrospinal fluid (CSF) were performed. Statistical analysis was performed to compare neurologic and CSF findings in patients with brain MR imaging abnormalities and in patients without abnormalities. The sensitivity of brain MR imaging was compared with that of CSF studies. RESULTS: Thirteen (52%) of 25 patients evaluated with MR imaging had a variety of brain abnormalities. Multiple focal intraparenchymal lesions, which exhibited T2 prolongation and commonly punctate or linear enhancement, were the most frequent abnormalities, and they were encountered in seven patients. The second most common finding was involvement of leptomeninges and cranial nerves, which manifested as abnormal enhancement on MR images obtained after contrast agent administration. This abnormality was seen in six patients. Involvement of dura mater was noted in another. Four patients had brain masses. Two had abnormal engorgement and intense enhancement of the choroid plexus. Most lesions resolved after treatment, but seven resulted in lacunar infarctions. Abnormal B cells were detected in the CSF with either cytologic techniques or flow cytometry in five patients. CONCLUSION: Lymphomatoid granulomatosis has a high rate of central nervous system involvement and a variable spectrum of lesions at MR imaging. Findings in this study suggest that MR imaging is more sensitive than CSF cytologic analysis or flow cytometry for detection of central nervous system involvement from lymphomatoid granulomatosis.

Adolescent↗

PubMed1993

[A case of primary intracranial malignant lymphoma presenting opsoclonus-polymyoclonia syndrome].

A 46-year-old woman was doing well until December 1989, when she noted vertigo and difficulty in walking. She was admitted to our department on February, 7, 1990. General physical examination was unremarkable. Neurological examination revealed opsoclonus, limbs and truncal ataxia, and myoclonus over the facial muscle, neck, and all the extremities, suggestive of opsoclonus-polymyoclonia syndrome. Other neurological finding was not apparent. T2 weighted MRI (Siemens 1.5 Tesla) showed abnormal high intensity area without mass effect at the dentate nucleus of left cerebellum. She was treated with 60 mg of oral prednisolone, followed by gradual improvement of her neurological signs and abnormal MRI findings. However, in May, she gradually developed right hemiparesis, consciousness disturbance and pseudobulbar palsy. MRI showed multiple abnormal intensity area at left frontal lobe, right basal ganglia, and right cerebellar hemisphere. Open brain biopsy from the left frontal lesion revealed malignant lymphoma (diffuse large cell type, B cell type). She was treated by radiation therapy at the dose of 50 Gy (whole brain 40 Gy, local 10 Gy) with subsequent disappearance of opsoclonus, myoclonus, and ataxia. To our knowledge, this is the first case of primary intracranial malignant lymphoma presenting opsoclonus-polymoclonia syndrome.

Brain Neoplasms↗

PubMedDate not supplied

Dynamic MR imaging of pelvic organ prolapse: spectrum of abnormalities.

Pelvic organ prolapse is a relatively common condition in women that can have a significant impact on quality of life. Pelvic organ prolapse typically demonstrates multiple abnormalities and may involve the urethra, bladder, vaginal vault, rectum, and small bowel. Patients may present with pain, pressure, urinary and fecal incontinence, constipation, urinary retention, and defecatory dysfunction. Diagnosis is made primarily on the basis of findings at physical pelvic examination. Imaging is useful in patients in whom findings at physical examination are equivocal. Fluoroscopy, ultrasonography, and magnetic resonance (MR) imaging can be useful in evaluating pelvic organ prolapse. Advantages of MR imaging include lack of ionizing radiation, depiction of the soft tissues of the pelvic floor, and multiplanar imaging capability. Dynamic imaging is usually necessary to demonstrate pelvic organ prolapse, which may be obvious only when abdominal pressure is increased. Treatment is more likely to be successful if a survey of the entire pelvis is performed prior to therapy. Therapy is usually undertaken only in symptomatic patients. In all patients, imaging findings must be interpreted in conjunction with physical examination findings and the patient's symptoms.

Female↗

PubMed1985

Partial characterization of abnormal salivary proteins associated with rheumatoid arthritis.

Isoelectric focusing of parotid saliva from 33 patients with rheumatoid arthritis but without clinical evidence of salivary gland involvement revealed multiple abnormal proteins of pI 3.95-4.25 in all cases, whereas only two out of 16 samples from normal healthy individuals exhibited any similar bands. Although rheumatoid factors of abnormally low isoelectric point and restricted heterogeneity were detected in this pI region in five of the diseased samples, these could not account for all of the bands even in these cases. The abnormal proteins did not otherwise cross-react with antisera to immunoglobulin (Ig) G, IgA or albumin. Analysis of rheumatoid arthritis parotid saliva by a method involving adsorption of rheumatoid factors to immobilized rabbit immunoglobulin revealed the presence of salivary rheumatoid factors (in seven patients) of all the major immunoglobulin classes, including secretory-IgA in two patients. Although these abnormal proteins are as yet uncharacterized, their presence could form the basis of a non-invasive procedure in the diagnosis of salivary gland and connective tissue disorders.

Adult↗

PubMed1998

A new lethal autosomal recessive skeletal dysplasia with associated dysmorphic features.

We report a fetus noted on routine ultrasonography at 21 weeks gestation to have a skeletal dysplasia with reduced ossification of shortened long bones and normal sized ribs. The consanguineous parents elected to continue the pregnancy and spontaneous labour occurred at 33 weeks gestation. The child died in the neonatal period. At necropsy, the main skeletal features were abnormal vertebrae with variation in shape and size, and ossification centres, short angulated long bones with distorted metaphyses and multiple abnormalities and fusions of the phalanges and metacarpals. In addition there was hydrops fetalis, a 'digit like' appendage overlying the left biceps muscle, a small chest with pulmonary hypoplasia and facial dysmorphism. In a subsequent pregnancy the fetus was noted at 13 weeks gestation to have nuchal translucency and bilaterally short femora. The fetus progressively developed hydrops fetalis and intrauterine death occurred at 22 weeks gestation. Post mortem examination revealed features very similar to the previous sibling. We suggest that this a new lethal osteochondrodysplasia syndrome. Recurrence in female siblings and parents who are double first cousins, strongly indicate autosomal recessive inheritance.

Bone and Bones↗

PubMed1982

Delayed pulmonary dysfunction in head-injured patients.

Intracranial pressure (ICP), cardiopulmonary function, and the degree of neurological dysfunction were measured in 13 patients with serious head injury to determine the relationship of these indices to the development of delayed pulmonary dysfunction. All patients had serious isolated head injury with Glasgow Coma Scale scores of 7 or less 6 hours after injury and elevated ICP at the time of admission to the protocol. Three patients developed arterial pO2 of less than or equal to 80 torr despite the initiation of elevated inspired oxygen fraction (FIO2 greater than or equal to 0.5) and positive end expiratory pressure (greater than or equal to 5 cm H2O. One of these three patients had a decline in neurological function, quantified by the Albany Head-Injury Watch Sheet, associated with hypoxemia. The only patients who developed intrapulmonary shunt fractions of more than 15% were five patients who had increased pulmonary vascular resistance (PVR) and elevated or increasing cardiac index, suggesting persistent perfusion to areas of the lung which normally are hypoperfused due to hypoxic pulmonary vasoconstriction. This mismatching of the distribution of ventilation and perfusion was confirmed using the multiple inert gas elimination technique in two patients with an increased shunt fraction. Unperfused gas exchange units were also found to be present, as confirmed by an abnormal multiple inert gas elimination techniques, high PVR and dead space/tidal volume ratio (VD/VT), and low extravascular lung water. Abnormalities of ICP and cerebral perfusion pressure could not be correlated with changes in any of the cardiopulmonary functions studied.

Adolescent↗

PubMed1985

Intrarenal hemangiomas in the Klippel-Trenaunay syndrome.

The Klippel-Trenaunay syndrome is composed of the triad of unilateral limb hypertrophy, abnormalities of the deep venous system, and port-wine hemangiomas. An interesting case is presented in which there were multiple abnormalities of the renal veins and intrarenal hemangiomas resulting in renal failure in addition to the usual peripheral abnormalities.

Angiomatosis↗

PubMed2004

Occurrence of pituitary dysfunction following traumatic brain injury.

Traumatic brain injury (TBI) may be associated with impairment of pituitary hormone secretion, which may contribute to long-term physical, cognitive, and psychological disability. We studied the occurrence and risk factors of pituitary dysfunction, including growth hormone deficiency (GHD) in 50 patients (mean age 37.6 +/- 2.4 years; 40 males, age 20-60 years; 10 females, age 23-87 years) with TBI over 5 years. Cranial or facial fractures were documented in 12 patients, and neurosurgery was performed in 14. According to the Glasgow Coma Scale (GCS), 16 patients had suffered from mild, 7 moderate, and 27 severe TBI. Glasgow Outcome Scale (GOS) indicated severe disability in 5, moderate disability in 11, and good recovery in 34 cases. Basal pituitary hormone evaluation, performed once at times variable from 12 to 64 months after TBI, showed hypogonadotrophic hypogonadism in 7 (14%), central hypothyroidism in 5 (10%), low prolactin (PRL) levels in 4 (8%), and high PRL levels in 4 (8%) cases. All subjects had normal corticotrophic and posterior pituitary function. Seven patients showed low insulin-like growth factor-I (IGF-I) levels for age and sex. Results of GHRH plus arginine testing indicated partial GHD in 10 (20%) and severe GHD in 4 (8%) cases. Patients with GHD were older (p <0.05) than patients with normal GH secretion. Magnetic resonance imaging demonstrated pituitary abnormalities in 2 patients; altogether pituitary dysfunction was observed in 27 (54%) patients. Six patients (12%) showed a combination of multiple abnormalities. Occurrence of pituitary dysfunction was 37.5%, 57.1%, and 59.3% in the patients with mild, moderate, and severe TBI, respectively. GCS scores were significantly (p <0.02) lower in patients with pituitary dysfunction compared to those with normal pituitary function (8.3 +/- 0.5 vs. 10.2 +/- 0.6). No relationship was detected between pituitary dysfunction and years since TBI, type of injury, and outcome from TBI. In conclusion, subjects with a history of TBI frequently develop pituitary dysfunction, especially GHD. Therefore, evaluation of pituitary hormone secretion, including GH, should be included in the long-term follow-up of all TBI patients so that adequate hormone replacement therapy may be administered.

Adult↗

PubMed1983

Exercise testing in pulmonary sarcoidosis.

The variable natural history of sarcoidosis and the toxicity of corticosteroids result in many clinical situations where there is controversy concerning the need for treatment. Progressive incremental testing is an excellent method to identify physiologic mechanisms responsible for exercise limitation. It is therefore ideal to determine if subjective symptoms such as dyspnea are due to cardiac abnormalities, pulmonary abnormalities, or poor physical conditioning. Thirty-one patients with sarcoidosis underwent progressive incremental exercise testing. Four of 14 asymptomatic patients and eight of 17 symptomatic patients demonstrated pulmonary abnormalities which potentially limited exercise tolerance. These consisted of an abnormal respiratory pattern or gas exchange abnormalities, or both. Patients with completely normal routine pulmonary function studies almost always performed normally with exercise. Symptomatic patients with multiple abnormalities on routine pulmonary function studies invariably demonstrated a pulmonary limitation on exercise testing. Patients with one or two abnormalities on routine pulmonary function studies, regardless of the presence or absence of parenchymal infiltrates, required exercise testing to determine if symptoms were due to physiologically significant abnormalities of the respiratory system. The important variables necessary to be measured, arterial desaturation and an abnormal respiratory pattern, can be measured noninvasively with a minimum of equipment.

Adrenal Cortex Hormones↗

PubMed2001

Vocal fold abnormalities in laryngeal tension-fatigue syndrome.

This study sought to use videostrobolaryngoscopy to clarify possible biomechanical causes of dysphonia in patients with laryngeal tension-fatigue syndrome, a chronic functional dysphonia due to vocal abuse and misuse. The videostrobolaryngoscopic records of 301 laryngeal tension-fatigue syndrome patients were reviewed. The focus of observation was the visual characteristics of the mucus layer, vessel dilatation or neovascularization on the surface of vocal folds, abnormal glottal closure, and bilateral vibratory asymmetry. Abnormal findings on the vocal folds, especially during vibration, were noted in 270 cases (89.7%). Most patients (222, 73.8%) had multiple abnormalities. The results of this study suggest that chronic vocal overuse under excessive laryngeal muscle tension can cause phonotrauma and result in biomechanical property changes in the vocal fold's cover. These changes would hinder the regular vibration of the vocal folds, increase irregularities in voice signals, and worsen the symptoms of dysphonia.

Adolescent↗