The relationship of self-efficacy and perceived well-being to physical activity and stair climbing in older adults.
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Activities of Daily Living↗
Biomedical subjects
J J Martin
Publications and source records attributed to J J Martin.
Carbohydrate-deficient glycoprotein syndrome with previously unreported features.
A boy with carbohydrate-deficient glycoprotein syndrome died at five months of age in status epilepticus. Postmortem examination failed to show the classically observed olivopontocerebellar atrophy. Two previously unreported features were present: cataracts from the first week of life and lysosomal storage affecting mainly the anterior horn neurons of the spinal cord.
Brain↗
Linkage and mutation analysis in an extended family with Charcot-Marie-Tooth disease type 1B.
Charcot-Marie-Tooth disease type 1 (CMT1) or hereditary motor and sensory neuropathy type I (HMSNI) is an autosomal dominant peripheral neuropathy. In most families the disease segregates with a 1.5 Mb duplication on chromosome 17p11.2 (CMT1A). A few patients have been found with point mutations in the PMP-22 gene. In some families linkage has been found with markers located on chromosome 1q21-q25 (CMT1B) and more recently mutations have been identified in the P0 gene. We analysed an extended CMT1 pedigree (CMT-B) without the CMT1A duplication. Significant positive linkage with chromosome 1 indicated that this family is of the CMT1B subtype. Sequencing of the candidate gene P0 located in chromosome band 1q21-q23 showed a C to A point mutation at position 446 in exon 3 resulting in an Asp134Glu substitution. Since the P0 mutation cosegregated with CMT1 disease we suggest that this mutation is the primary genetic cause of CMT1B in family CMT-B.
Adult↗
Microtubule-associated protein tau epitopes are present in fiber lesions in diverse muscle disorders.
The microtubule-associated protein tau is a major cytoskeletal protein involved in the neurofibrillary tangles of Alzheimer's disease. Although tau is predominantly a neuronal protein, it has been demonstrated in glia and other nonneuronal cells. We describe the presence of microtubule-associated protein tau epitopes in various muscle fiber lesions in oculopharyngeal and Becker muscular dystrophy, dermatomyositis, central core disease, neurogenic atrophy, and in the recovery phase of an attack of malignant hyperthermia. Western blot demonstrated a 100- to 110-kd tau-immunoreactive protein probably corresponding to 'big tau' as described in peripheral nerves. Tau immunoreactivity in muscle fiber lesions usually co-localized with tubulin, although electron microscopy failed to show an increase in microtubules. Tau and tubulin reactivity also correlated with the presence of desmin and vimentin epitopes. Possible explanations for the presence of tau are briefly discussed.
Adult↗
Eosinophilia myalgia syndrome: absence of immunoglobulin reactivity suggests a cellular rather than humoral mechanism.
The idiopathic disorder Eosinophilia Myalgia Syndrome (EMS), characterized by peripheral eosinophilia, myalgia and frequently fasciitis, can be triggered by ingestion of some commercial preparations of L-Tryptophan. Activated T-lymphocytes and macrophages are involved in the pathogenesis of EMS. We investigated immunohistochemically the potential role of immunoglobulins and of the terminal C5b-9 complement factor (membrane attack complex) in EMS. We found no evidence for direct involvement of immunoglobulins. However, membrane attack complex immunoreactivity was present in vessel walls in EMS, but completely absent in controls. These observations suggest that the fasciitis in EMS involves a cellular rather than a humoral reaction and that complement activation could be of importance.
Adult↗
Multiple pterygium syndrome with body asymmetry.
We report on a fetus with multiple pterygia in the popliteal, antecubital, intercrural, axillary, and nuchal region, arthrogryposis, camptodactyly, anal atresia, hypospadias, ambiguous genitalia, and neonatal death. Arthrogryposis was much more pronounced at the left than at the right side. Moreover, there was gross body asymmetry with hypoplasia of the left arm, leg, pelvis, and kidney. As this spectrum of anomalies does not fit any of the known multiple pterygium syndromes, this patient adds another clinical entity to the already wide spectrum of multiple pterygium syndromes.
Abnormalities, Multiple↗
Atypical clinical presentation of ataxia telangiectasia.
Ataxia telangiectasia (AT) is an autosomal recessive disorder characterized by progressive cerebellar ataxia, oculocutaneous telangiectasias, immunodeficiency with recurrent infections, IgA and IgE deficiency, and increased incidence of malignancies. The pathognomonic biological abnormalities consist of spontaneous chromosomal instability resulting in a high in vivo occurrence of cells with translocations, especially involving chromosomes 7 and 14, and a relative insensitivity of DNA replication in vitro to radiation exposure. We report on a patient with the biological hallmarks of AT but with atypical clinical manifestations. Although progressive cerebellar ataxia was present, the neurological picture was broader than that usually seen in AT and included peripheral polyneuropathy and spinal atrophy. On the other hand, telangiectasias, recurrent infections, malignancies, IgA deficiency, or other immunological abnormalities were not present. This illustrates that the clinical picture of AT is broad and nonspecific, and highlights the diagnostic value of cytogenetic analysis and studies of radioresistance of DNA synthesis.
Adult↗
Rimmed vacuoles of inclusion body myositis and oculopharyngeal muscular dystrophy contain amyloid precursor protein and lysosomal markers.
Rimmed vacuoles are small areas of focal destruction of muscle fibres, found in inclusion body myositis, oculopharyngeal muscular dystrophy and other muscle disorders. They are known to contain amyloid proteins, probably of beta-amyloid type. We examined rimmed vacuoles immunohistochemically in 12 patients with inclusion body myositis and two patients with oculopharyngeal muscular dystrophy with antibodies to beta-amyloid precursor protein and cathepsin B and D. We found evidence for the presence of all these markers in rimmed vacuoles. These results confirm the presence of beta-amyloid in rimmed vacuoles, and provide additional support for the hypotheses that rimmed vacuoles are of lysosomal origin and that lysosomes are probably important in the metabolism of amyloid precursor protein.
Aged↗
Adult type of neuronal ceroid-lipofuscinosis.
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Adult↗
Detection of herpes simplex virus in the cerebrospinal fluid of patients with encephalitis using the polymerase chain reaction.
Herpes simplex encephalitis is a neurologic emergency demanding immediate institution of specific therapy in order to prevent mortality. Diagnosis, however, is a complex matter with controversy existing over the appropriateness of brain biopsy. We report the demonstration of herpes simplex virus DNA by means of the polymerase chain reaction (PRC) in the cerebrospinal fluid of 3 patients with herpes simplex encephalitis. One of the patients suffered from brain-stem encephalitis with high intensity signals in the pons on magnetic resonance imaging, the second reported case of this entity. The PCR for herpes simplex on a control series of cerebrospinal fluid of 20 patients with other central nervous system infections was negative. PCR of cerebrospinal fluid offers a sensitive, specific and rapid diagnosis of herpes simplex encephalitis, making brain biopsy unnecessary. Still, the importance of strict measures to prevent contamination cannot be stressed enough. It is possible that due to the high sensitivity of the PCR, herpes simplex may be found in other infectious syndromes of the central nervous system.
Adult↗
Benign intracranial hypertension as a cause of transient partial pituitary deficiency.
A male patient is reported with benign intracranial hypertension, who presented with three periods of partial pituitary deficiency, corresponding to episodes of headaches and papilledema. No radiological signs of the empty sella syndrome were observed. Since benign intracranial hypertension has been implicated in the development of the empty sella syndrome, it is postulated that the endocrine deficiency syndrome encountered in the empty sella syndrome can be provoked by chronic intracranial hypertension in itself and is not necessarily secondary to the anatomical changes occurring in the sellar region.
Adult↗
Krabbe globoid cell leukodystrophy. Electron microscopy shows characteristic inclusions in eccrine sweat glands.
Evidence for storage in eccrine sweat glands from skin biopsies of 7 patients with Krabbe globoid cell leukodystrophy is demonstrated. Clear cells showed characteristic free or intravacuolar inclusions containing needle-like and splinter-shaped structures with sometimes clearly outlined paracrystalline-like geometric configurations. These inclusions were very similar to those observed in the characteristic globoid cells found in the central nervous system and in Schwann cells of cutaneous, conjunctival and peripheral nerves. This finding suggests that the storage is not restricted to the nervous system. The diagnostic value of skin biopsy in Krabbe globoid cell leukodystrophy is emphasized.
Child, Preschool↗
MRI of acoustic schwannoma: a retrospective study of 89 tumours.
Magnetic resonance imaging (MRI) is now considered the diagnostic study of choice for evaluation of patients with suspected acoustic schwannoma. This retrospective study of 118 MR examinations presents an analysis of the MR findings of 89 acoustic tumours in 86 patients. The method of examination included precontrast and gadolinium(Gd)-enhanced MRI in 72 and plain MRI in 14 patients. The common MR-appearances of acoustic schwannomas were: on T1-weighted images (WI) isointense (36%) or slightly hypointense (64%) relative to the brainstem; intense and homogeneous contrast enhancement in 62%; the shape of the tumour was round or oval in 71%; the tumour was centred at/or located in the internal auditory canal (IAC) in 80%. The small acoustic schwannomas were mostly round or oval in shape and showed homogeneous signal intensity (SI) both before and after Gd. The larger acoustic tumours were more heterogeneous in morphology and SI. The significance of these and other signs, early diagnosis and differential diagnosis are discussed.
Adolescent↗
Origin of the de novo duplication in Charcot-Marie-Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis.
A 1.5 Mb duplication within 17p11.2 is the major mutation causing both autosomal dominant and sporadic Charcot-Marie-Tooth disease type 1A (CMT1A). An independent origin for the mutation in each family has been postulated. The proposed genetic mechanism causing the CMT1A duplication is unequal nonsister chromatid exchange at meiosis (unequal crossing-over). We studied the parental origin of the duplication in nine genetically sporadic CMT1A patients and demonstrated that in all cases the mutation was the product of an unequal nonsister chromatid exchange during spermatogenesis. The fact that only paternal de novo duplications were observed in the sporadic CMT1A patients suggests that male specific factors may be operating during spermatogenesis that either help forming the duplication and/or stabilize the duplicated chromosome.
Blotting, Southern↗
Tc-99m HMPAO tomography using a three-headed SPECT system equipped with lead fanbeam collimators.
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Brain↗
Detection of tau proteins in normal and Alzheimer's disease cerebrospinal fluid with a sensitive sandwich enzyme-linked immunosorbent assay.
Alzheimer's disease is a progressive degenerative dementia characterized by the abundant presence of neurofibrillary tangles in neurons. This study was designed to test whether the microtubule-associated protein tau, a major component of neurofibrillary tangles, could be detected in CSF. Additionally, we investigated whether CSF tau levels were abnormal in Alzheimer's disease as compared with a large group of control patients. We developed a sensitive sandwich enzyme-linked immunosorbent assay using AT120, a monoclonal antibody directed to human tau, as a capturing antibody. With this technique, the detection limit for tau was less than 5 pg/ml of CSF. Using AT8, which recognizes abnormally phosphorylated serines 199-202 in tau, the detection limit was below 20 pg/ml of CSF. However, with AT8, we found no immunoreactivity in CSF, suggesting that only a small fraction of CSF tau contains the abnormally phosphorylated AT8 epitope. Our results indicate that CSF tau levels are significantly increased in Alzheimer's disease. Also, CSF tau levels in a large group of patients with a diversity of neurological diseases showed overlap with CSF tau levels in Alzheimer's disease.
Adolescent↗
The association of meningioma and pituitary adenoma: report of seven cases and review of the literature.
Seven patients with the co-occurrence of meningioma and pituitary adenoma are reported. Diagnosis was based on histological examination and if not available on MR imaging. Extensive review of the literature reveals only 18 other cases with this association if meningiomas appearing after radiation therapy for pituitary tumors are excluded. As in isolated meningiomas, the female-to-male ratio is high. A preponderance of perisellar meningiomas is apparent. Another distinct characteristic of this combination is not revealed, since no specific typing of the meningioma and no specific endocrine syndrome is uncovered. Two patients presented with multiple meningiomas, of which one showed two histologically different tumor types. The presence of other tumors in association with pituitary adenomas and meningiomas in our series is striking and could suggest a genetic dysregulation leading to the development of these tumors.
Adenoma↗
Acoustic schwannoma: MR findings in 84 tumors.
MR imaging is the study of choice for the examination of patients with suspected acoustic schwannoma, because of its high sensitivity, especially after the use of contrast material. This essay illustrates the common MR features of acoustic schwannomas as seen in a study of 84 tumors. We pay special attention to the role of MR imaging in the distinction between acoustic schwannoma and meningioma.
Adolescent↗