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PubMed2006

Oncogenic osteomalacia in a case with a maxillary sinus mesenchymal tumor.

We herein describe the rare case of a 41-year-old woman with oncogenic osteomalacia due to a tumor in the maxillary sinus who presented with chronic general pain that had been gradually deteriorating. The patient's laboratory findings revealed hypophosphatemia due to renal phosphate wasting, an inappropriately low serum 1 alpha,25-dihydroxyvitamin D3 level for hypophosphatemia and an unusually high serum level of fibroblast growth factor 23 (FGF23). The causative tumor was surgically removed, resulting in a rapid resolution of the patient's biochemical abnormalities. An improvement of the abnormal multiple deposits on (99)Technetium-methylene diphosphonate bone scintigraphy and an increase in the bone metabolism markers suggested the development of bone remodeling within 49 days after the operation. The pathologic diagnosis of the tumor was a "phosphaturic mesenchymal tumor, mixed with a connective tissue variant." The expression of FGF23 was demonstrated in the tumor by the immunohistochemical techniques and a Western analysis.

Adult↗
PubMed1991

The pathological basis of multi-infarct dementia.

Analysis of the pathology of multi-infarct dementia is best carried out using a two-axis approach. The first axis describes the tissue damage, classified as macroinfarcts, cortical microinfarcts, basal ganglionic lacunes, white matter lacunes, dilated perivascular spaces, diffuse white matter rarefaction, and perivascular edema. The second axis describes the vascular abnormalities, classified as atherosclerosis involving the extracranial or intracranial arteries, arteriolosclerosis, congophilic angiopathy, emboli, and no structural abnormality. Multiple infarcts and white matter rarefaction are commonly seen as a component of Alzheimer disease, in keeping with the development of congophilic angiopathy and possibly other vascular changes in the latter disease. Evidence is presented to support the concept that the white matter rarefaction of Alzheimer disease and aging is associated with perivascular edema, rather than partial infarction.

Age Factors↗
PubMed2004

Fibromyalgia pain: do we know the source?

PURPOSE OF REVIEW: Fibromyalgia Syndrome (FMS) is a chronic pain condition of unknown origin. Multiple abnormalities have been described, including peripheral tissue and central nervous system changes. The relation of these mechanisms, however, is likely bidirectional. FMS pain clearly depends on peripheral nociceptive input as well as abnormal central pain processing. This review will focus on the role of peripheral nociceptive input for pain in FMS. RECENT FINDINGS: There is strong evidence for abnormal central pain processing in FMS. Sensitized spinal cord neurons in the dorsal horn are responsible for augmented pain processing of nociceptive signals from the periphery. In addition, glial activation, possibly by cytokines and excitatory amino acids may play a role in the initiation and perpetuation of this sensitized state. SUMMARY: Nociceptive input clearly plays an important role in FMS. Acute or repetitive tissue injury has been associated with FMS pain. Cytokines related to such injuries may be responsible for long-term activation of spinal cord glia and dorsal horn neurons, thus resulting in central sensitization. A better understanding of these important neuro-immune interactions may provide relevant insights into future effective therapies.

Cytokines↗
PubMedDate not supplied

Assessment of cosmetic and functional results of conservative versus surgical management of facial burns.

This study was undertaken to determine whether tangential excision and thick split-thickness skin grafting (STSG) of deep facial burns give a better cosmetic and functional result than conservative management. Forty patients (28 adults, 12 children) treated for facial burns between July 1989 and July 1991 were evaluated in follow-up (mean 18.3 +/- 8.3 months). The patients were categorized into the following groups according to depth and management of their facial burns: (A) healed without surgery in less than 21 days (n = 13), (B) healed without surgery in 21 days or more (n = 11), (C) early debridement and thick STSG in 18 days or less after the burn (n = 6), and (D) delayed debridement and thick STSG in more than 18 days after the burn (n = 10). Facial esthetics were evaluated by use of a modified scar assessment scale [range 0 (normal) to 16 (multiple abnormalities)], and functional problems of the face and neck were evaluated by use of physical examination. Group A patients had a significantly better overall rating on the scar assessment scale (2.1 +/- 2.9) than the patients in the other groups that required more than 21 days to heal, B (8.0 +/- 2.7), C (7.3 +/- 2.9), and D (5.7 +/- 2.5) (p < 0.01, analysis of variance). Also, skin-grafted areas in the surgically treated groups C and D had a significantly better scar rating than wounds that healed spontaneously in group B (5.7 +/- 4.0 vs 8.0 +/- 2.7, p < 0.05; and 5.1 +/- 2.6 vs 8.0 +/- 2.7, p < 0.05). There was no significant difference among groups B, C, and D when the total number of persistent functional problems after treatment were compared. The most common functional problems for these patients were microstomia (17/27) and eyelid ectropion (17/27). Patients with superficial facial burns that heal in less than 21 days appear to heal with generally very acceptable cosmetic and functional results. However, in those patients with deep facial burns that require prolonged periods for spontaneous wound healing, tangential excision of the wound and resurfacing with thick STSG appear to give better cosmetic results than conservative management, with no greater incidence of functional complications.

Adult↗
PubMed1987

Polyhydramnios: a review.

Polyhydramnios is a relatively common obstetrical complication. Major causes include maternal diabetes, chromosomal disorders, isoimmunologic disease, congenital abnormalities, multiple gestations, and idiopathic reasons. Perinatal morbidity and mortality is high and maternal complications are frequent. Successful management depends upon appropriate diagnostic evaluation. Prolongation of the pregnancy for further fetal maturation may be achieved with timely therapeutic amniocenteses.

Female↗
PubMedDate not supplied

Reduced primary antibody responses in a genetic animal model of depression.

OBJECTIVE: Clinical depression is associated with multiple abnormalities of immune function, including reduced virus-specific responses. This study tested the hypothesis that the Flinders Sensitive Line (FSL) rat, a promising genetic animal model of depression, would exhibit reductions in antigen-specific primary antibody responses to immunization. METHODS: FSL (N = 13) and control Flinders Resistant Line (FRL; N = 14) rats were immunized with the protein antigen keyhole limpet hemocyanin (KLH; 300 microg/kg), and KLH-specific immunoglobulin (Ig)M, IgG, IgG1, and IgG2a responses were measured before and 3, 5, 7, 11, and 14 days after immunization. In separate experiments, production of interferon-gamma (IFN-gamma) by cells from naive and KLH-immunized animals was measured in vitro to determine whether strain differences in antibody production might be associated with differential production of this regulatory cytokine. RESULTS: KLH-specific production of IgM (p <.01) and IgG2a (p <.05) was significantly reduced in the FSL rats compared with the FRL controls. There were no strain differences in IgG or IgG1 production. Although IFN-gamma production between the two strains was similar in naive animals, cells from KLH-immunized FSL rats produced significantly less IFN-gamma when stimulated with KLH in vitro than cells from KLH-immunized FRL controls (p =.01). CONCLUSIONS: This study extends previous reports of altered immune function in the FSL rats to include reduced in vivo antigen-specific antibody responses. Moreover, diminished production of IFN-gamma by KLH-primed lymphocytes may contribute to lower antibody production in these animals. Collectively, these data suggest deficiencies in type 1 T-helper cell-mediated immunity in the FSL rats.

Animals↗
PubMed1992

Diagnostic findings in painful adult scoliosis.

The purpose of this study was to document the diagnostic findings in a group of adult patients presenting with both scoliosis and pain. Fifty-five adults were evaluated by medical history, physical examination, radiography, myelography followed by computed tomography, discography followed by computed tomography, and single- and dual-photon densitometry. Curves were 49% adult degenerative onset, 44% idiopathic. The older degenerative patients had myelographic defects most commonly within the primary curve and multiple abnormal, not necessarily painful, discs throughout the lumbar spine on discography. The idiopathic group had myelographic defects most commonly in a compensatory lumbar or lumbosacral curve. On discography, all idiopathic patients had at least one abnormal, painful disc, and 88% had their pain reproduced. Pain-producing pathology was frequently identified in areas that would not have been included in the fusion area according to accepted rules for treatment of idiopathic scoliosis.

Adult↗
PubMed1983

Immunologic reactivity in marrow graft recipients receiving cyclosporine to prevent graft-versus-host disease.

In vitro and in vivo immunologic parameters were determined in 26 patients treated continuously with cyclosporine to prevent graft-versus-host-disease (GVHD) after allogeneic bone marrow transplantation (BMT) for acute and chronic leukemia and for aplastic anemia. A group of 18 patients was tested 6 months after BMT and another group of 10 patients was tested after one year. At 6 months after BMT, 94% of the patients had normal serum IgG and IgM levels, whereas at one year 29% of them had low IgA levels. The proportion of patients with normal lymphocyte responses in vitro at 6 months after BMT was 69% and 76% for the responses to concanavalin A and to soluble antigens; 75% and 53% for the responses to allogeneic cells and pokeweed mitogen, respectively; and 89% for the response to phytohemagglutinin. All but one were able to generate suppressor cells upon con A stimulation. At one year after the graft, only one patient had demonstrable multiple abnormalities in in vitro tests. Skin test reactivity at one year was comparable to pre-graft reactivity. After BMT a lymphopenia persisted for 6 months. The rate of infectious complications was high during the first 3 months after BMT, and it diminished progressively as immune functions returned to normal. Infection was the cause of death in two cases (one disseminated cytomegalovirus infection and one septicemia). GHVD occurred in 12 patients; in nine of them the disease was transient and mild, only 1 patient developed severe chronic GVHD. Acute GVHD did not influence the tempo of immunologic reconstitution. In comparison to other studies, it seems that cyclosporine does not delay immune restoration, or increase morbidity from infection, while preventing GVHD and its complications efficiently.

Anemia, Aplastic↗
PubMed1990

Cerebrotendinous xanthomatosis.

A case report on a 23-year-old female patient with cerebrotendinous xanthomatosis (CTX) is presented. From 8 years of age, the patient clinically showed multiple xanthoma masses on both knees, both heels, and the nasal bridge, juvenile cataracts, multiple abnormal neurologic dysfunctions, and dementia. The level of cholestanol in urine, serum, and xanthoma mass tissues was increased, as determined by capillary gas chromatography.

Adult↗
PubMed1979

Some aspects of the biology of multinucleate and giant mononucleate erythroblasts in a patient with CDA, type III.

Marrow cells of a patient with CDA, type III, were (1) incubated with 3H-thymidine for 0.5 h and studied using a combination of Feulgen microspectrophotometry and light microscope autoradiography and (2) incubated with 3H-thymidine, 3H-uridine or 3H-leucine for 1 h and studied using the technique of electron microscope autoradiography. The data revealed multiple abnormalities in the proliferation of erythroblasts but no abnormality in the distribution of neutrophil promyelocytes and myelocytes in the different stages of interphase. Some mononucleate erythroblasts had DNA contents of 4-20c and the multinucleate erythroblasts had total DNA contents of 2-40c. In about 40% of the multinucleate erythroblasts, only some of the nuclei within the same cell incorporated 3H-thymidine and the electron microscope autoradiographic studies revealed that the nuclei which failed to synthesize DNA virtually always showed abnormalities in the electron-density of the heterochromatin or euchromatin or a Swiss-cheese appearance of the heterochromatin. Furthermore, in some multinucleate cells but not in others, the ultrastructurally abnormal nuclei showed a marked depression of RNA synthesis when compared with the normal-looking nuclei within the same cell. An occasional binucleate, multinucleate and giant mononucleate erythroblast showed ultrastructural changes suggestive of advanced degeneration and such cells, which showed a marked depression of RNA and protein synthesis, appeared to be phagocytosed by macrophages.

Anemia↗
PubMed1984

The haemoglobin H disease mental retardation syndrome: molecular studies on the South African case.

The child with haemoglobin H (HbH) disease and multiple congenital abnormalities reported by Borochowitz et al (1970) has been more fully investigated in view of the recent report by Weatherall et al (1981) of a 'new' syndrome of HbH disease and mental retardation. Restriction enzyme analysis indicates that the child's HbH disease results from the inheritance of an alpha-thalassaemia 2 chromosome (-alpha/) from his mother and, from his father, a chromosome which has undergone a deletion including the zeta- and alpha-globin genes as well as an undefined length of DNA. Striking similarities between our patient and Weatherall et al's patients at the clinical level and between our patient and their patient number 1 at the molecular level, confirm that a new syndrome has been defined.

Abnormalities, Multiple↗
PubMed2005

Three cases of focal dermal hypoplasia (Goltz syndrome).

Focal dermal hypoplasia or Goltz syndrome is a rare genodermatosis, characterized by multiple abnormalities of ectodermal and mesodermal origin. It is found predominantly in females and is characterized by hypoplasia of skin and papillomas. Three cases of focal dermal hypoplasia in infancy with unusual inheritance patterns are reported. Cutaneous features were atrophic reticulated scars involving the trunk and extremities following the lines of Blaschko. Papillomas were present on the genitalia and in a periorificial distribution. Skeletal abnormalities included syndactyly, polydactyly and lobster claw deformities. Ophthalmological examination revealed strabismus and retinal colobomas.

Eye Abnormalities↗
PubMed1993

Serious, prolonged hypoglycaemia with glibenclamide in a patient with Mendenhall's syndrome.

Mendenhall's syndrome, characterized by familial insulin resistant diabetes, pineal hyperplasia and multiple somatic abnormalities, is associated with defects involving the alpha-subunit of the insulin receptor. The associated insulin-resistant diabetes is extremely difficult to treat; insulin is required in very large doses to control hyperglycaemia and oral hypoglycaemic agents are ineffective. We report a case of severe, prolonged hypoglycaemia that occurred in a 24-year-old patient with Mendenhall's syndrome following therapy with glibenclamide. He had glibenclamide 10 mg daily for 1 week following which he was admitted to hospital in hypoglycaemic coma with blood glucose levels < 1.0 mmol/l. This subject had undergone hypophysectomy at the age of 11 years. Prior to pituitary ablation, oral hypoglycaemic agents did not improve glycaemic control. Thus, previous hypophysectomy in this patient appears to have made it possible for glibenclamide to exert its hypoglycaemic effect. The occurrence of hypoglycaemia in this patient suggests alternative mechanisms for insulin action in conditions characterized by severe insulin resistance due to insulin receptor defects.

Abnormalities, Multiple↗
PubMed1983

Changes from puberty to adulthood in the concentration, motility and morphology of mouse epididymal spermatozoa.

A systematic study of the concentration, motility and morphology of epididymal spermatozoa was undertaken in mice of the OF1 strain, in order to characterize the changes observed during puberty. The comparative development of these 3 parameters was followed from days 30 to 90. A detailed morphological system of classification was established covering both individual and multiple abnormalities. At puberty, the first spermatozoa to appear were few in number, showed poor motility and were extremely atypical. Subsequently, the number of atypically-shaped spermatozoa diminished, and their concentration and motility exhibited parallel increases. At 60 days, the values for these 3 parameters and the proportions of normal and abnormal spermatozoa became stable. During puberty, various forms of disruption of the midpiece as well as the presence of extremely atypical detached flagella resulted in a special pattern of sperm morphology, although all of these abnormal features disappeared at 40 days.

Animals↗
PubMed1997

Communication, social-emotional development and parenting stress in Cornelia-de-Lange syndrome.

Cornelia-de-Lange syndrome is a dysmorphogenic disorder characterized by multiple congenital abnormalities, and in most cases, severe cognitive limitations. Parents of 27 children with Cornelia-de-Lange syndrome completed psychological questionnaires concerning communicative and social-emotional behaviours, and reported on their parenting stress. Only four children were able to use speech, but most of the older children expressed needs through non-verbal means. Feeding problems, over-activity, irritability and stereotyped behaviours were characteristic for the majority of the group. Self-injurious behaviours occur in more than 40%. Parenting stress is very high, especially in parents of older children.

Abnormalities, Multiple↗
PubMed2004

Two cases of generalized seizures and the Velocardiofacial syndrome -- a clinically significant association?

BACKGROUND: Velocardiofacial syndrome (VCFS) is caused by a micro deletion of chromosome 22q11 and associated with multiple system abnormalities. There is an increasing recognition of associations with psychiatric disorders. Neurological and brain abnormalities have been reported but to date no association with generalized epilepsy has been reported in literature. METHODS: We report two cases of adults with VCFS and primary generalized epilepsy. The details on their background, psychiatric history and history of epilepsy including results of investigations will be discussed. RESULTS: Case 1 is an adult male with mild learning disability (LD), VCFS, paranoid schizophrenia and primary generalized epilepsy. Case 2 is an adult female with mild LD, VCFS, schizoaffective disorder and primary generalized epilepsy. The diagnosis of epilepsy in both cases was based on clinical and EEG findings of primary generalized abnormalities. CONCLUSION: As there is an evidence of association between VCFS and psychiatric disorders, this raises the possibility of an association with generalized epilepsy.

Abnormalities, Multiple↗