Familial autosomal-dominant carpal tunnel syndrome presenting in a 5-year-old case.
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Carpal Tunnel Syndrome↗
Biomedical subjects
P Young
Publications and source records attributed to P Young.
Recurrent brachial plexus palsies as the only clinical expression of hereditary neuropathy with liability to pressure palsies associated with a de novo deletion of the peripheral myelin protein-22 gene.
There is phenotypic heterogeneity in patients with hereditary neuropathy with liability to pressure palsies. In rare cases, recurrent brachial plexopathy is the only expression of the disease. We describe a patient with three episodes of plexus brachialis palsy and a de novo deletion of the peripheral myelin protein-22 gene. We conclude that DNA analysis is a key issue not only for the differentiation of peripheral neuropathies but also in the diagnosis of recurrent plexopathies.
Adult↗
Cross-sectional imaging of a cadaveric human heart.
The precise relationship of the components of the heart can be difficult to understand. With recent developments in cardiac ultrasound and other imaging modalities, most professionals need to be familiar with cross-sectional cardiac anatomy. We have created a teaching technique based on a normal human heart removed at autopsy. It was scanned using a computed tomography scanner and the images examined in different planes. The images were annotated and used in a computer-based teaching program to convey the details of cardiac anatomy. Images corresponding to planes typically used in echocardiography were also examined. The resulting images were of high resolution and illustrated many subtle structures rarely seen in conventional studies of cardiac anatomy. This system has benefits to both clinicians and anatomists.
Adult↗
An exploration of methodological pluralism in nursing research.
The purpose of this article is to describe some important differences in methodological perspectives within the discipline of nursing. Four research traditions (empiric analytic, grounded theory, Heideggerian hermeneutic, and participatory action research) and the philosophical assumptions that inform them are presented. The discussion touches on criticisms that arise from within and from outside each tradition, as well as how each addresses the usefulness of research. Finally, ways in which specialized language is simultaneously necessary and problematic in advancing scholarly debate are illuminated.
Humans↗
Echo-planar imaging relaxometry to measure the viscosity of a model meal.
A method for measuring noninvasively the viscosity of a polysaccharide model meal using the known relationship between relaxation times and polysaccharide concentration in solution in vitro is presented. The aim is to develop a method for monitoring digesta viscosity in vivo, using EPI to capture the motion of the gastrointestinal lumen. The transverse relaxation rate T-12 of locust bean gum solutions was calibrated against the zero-shear viscosity at 37 degreesC. Differences in viscosity were distinguished significantly using T-12 measurements. T-12 and viscosity were insensitive to exposure to gastric juice and changes in pH, and the model meal was well received by volunteers and provided good contrast in vivo in EPI images. Therefore it would be possible to use this method to monitor the changes in meal viscosity within the gastric lumen in vivo.
Echo-Planar Imaging↗
[X-chromosomal recessive spinobulbar muscular atrophy (Kennedy type). Description of a family, clinical aspects, molecular genetics, differential diagnosis and therapy].
The Kennedy-Syndrome is a X-linked recessive bulbospinal muscular atrophy, in some cases associated with endocrinological disturbances such as androgen resistance and diabetes mellitus. The age of onset is usually between 20 and 40. Presenting symptoms are proximal flaccid weakness, fasciculations, cramps or tremor. Disease progression is usually slow and live expectancy is normal. It is important to distinguish the Kennedy-Syndrome from amyotrophic lateral sclerosis, spinal muscular atrophy, muscular dystrophies and other types of motor neuron disease. Kennedy disease is caused by an expanded trinucleotide repeat in the androgen receptor gene. Genetic analysis allows a precise-diagnosis on an individual basis and reliable genetic counselling. An effective medical treatment does not yet exist.
Diagnosis, Differential↗
[Focal dermal hypoplasia: description of three cases].
BACKGROUND: Focal dermal hypoplasia syndrome is mainly defined by the association of abnormalities of extremities, atrophy and linear hyperpigmentation of the skin, localized deposits of superficial fat, anomalies of the eyes and of the nails. Neonates are often small for their age. CASE REPORTS: Three sporadic cases are reported. Mental delay and omphalocele were observed in the first case. The neurological development was subnormal in the second and an unusual monodactyly was seen in the third. CONCLUSION: Most cases are sporadic, but in family cases, an X-linked dominant factor is likely. When a first affected offspring is observed, skin examination and X-ray should be carried out in parents to evaluate the risk of recurrence in their children. As the gene site has not yet been determined, antenatal diagnosis should be suspected on echography when fetal growth delay is associated to distal limb and/or ocular anomalies.
Child↗
Gamma knife treatment of refractory cluster headache.
Four men and two women were treated for refractory cluster headache by gamma knife radiosurgery of the trigeminal nerve root entry zone. The maximum dose of radiation was 70 Gy to the isocenter. Of five patients treated who had refractory chronic cluster headache and one with refractory episodic cluster headache, four had relief judged excellent. Of the two remaining patients with refractory chronic cluster headache, one had relief judged good and the other fair. Five of the six patients treated had relief within a few days to a week following gamma knife radiosurgery. Three with chronic cluster headache had remissions allowing cessation of all preventive and abortive medication. Although one patient experienced complete relief of chronic cluster headache, he continued to have migraine requiring medication. None of the patients treated developed significant postradiation side effects during a follow-up period of 8 to 14 months. The authors conclude that gamma knife radiosurgery of the trigeminal nerve affords great promise in the management of chronic and refractory cluster headache. The technique seemingly carries negligible short- and long- term risk.
Adult↗
[Hereditary neural amyotrophy (HNA): clinical and molecular genetic basis].
Hereditary neuralgic amyotrophy (HNA) and hereditary neuropathy with liability to pressure palsies (HNPP) are hereditary focal neuropathies. In this study we describe three families suffering from HNA. These families were examined clinically and electrophysiologically. Linkage analysis with markers from distal chromosome 17 was performed in a three-generation family. HNA could be separated from HNPP in all three families based on clinical and electrophysiological findings. HNA was characterised by recurrent episodes of painful brachial plexus lesions. In contrast to HNPP, no evidence for generalised neuropathy was found in the HNA families. Linkage analysis confirmed the HNA locus on distal chromosome 17. Additionally, we were able to refine the HNA locus to a 16 cM region on chromosome 17q24-q25.
Amyloid Neuropathies↗
Stromal progesterone receptors mediate the inhibitory effects of progesterone on estrogen-induced uterine epithelial cell deoxyribonucleic acid synthesis.
The role of epithelial and stromal progesterone (P) receptors (PR) in the regulation of uterine epithelial DNA synthesis by P was investigated by analyzing the four types of tissue recombinants prepared with uterine stroma (S) and epithelium (E) from wild-type (wt) and PR knockout (PRKO) mice: wt-S + wt-E, PRKO-S + PRKO-E, wt-S + PRKO-E, and PRKO-S + wt-E. 17-Beta estradiol (E2) stimulated DNA synthesis in all four types of tissue recombinants. On the other hand, P inhibited E2-induced DNA synthesis only in tissue recombinants prepared with wild-type (PR-positive) stroma (wt-S + wt-E or wt-S + PRKO-E) but not knockout (PR-negative) stroma (PRKO-S + wt-E or PRKO-S + PRKO-E). These results clearly demonstrate that the inhibitory effect of P on uterine epithelial DNA synthesis is mediated by stromal PR. Epithelial PR is neither necessary nor sufficient for P inhibition of E2-induced epithelial DNA synthesis.
Animals↗
Uterine and vaginal organ growth requires epidermal growth factor receptor signaling from stroma.
Estrogens are crucial for growth and function of the female genital tract. Recently, we showed that induction of uterine epithelial proliferation by estradiol is a paracrine event requiring an estrogen receptor-positive stroma. Growth factors [such as EGF (epidermal growth factor) ligands] are likely paracrine mediators, which may directly or indirectly regulate epithelial proliferation in estrogen target organs via cell-cell interactions. In this report, we used mice with a null mutation in their EGF receptor (EGFR) to examine the role of EGFR signaling in growth of the uterus and vagina and in estrogen-induced uterine and vaginal epithelial proliferation. When WT and EGFR-knockout (EGFR-KO) uteri and vaginae were grown as renal capsule grafts in nude mice, growth of uterine and vaginal grafts of EGFR-KO mice was reduced, compared with their WT counterparts. Grafts of both EGFR-KO uteri and vaginae were about one third smaller (wet weight) than their corresponding WT organs, even though differentiation of both epithelium and mesenchyme were normal in both cases. Both wild-type and EGFR-KO vaginal grafts contained within their lumina alternating layers of cornified and mucified epithelial cell layers, indicating cyclic alteration of epithelial differentiation. In response to estradiol treatment, stromal cell labeling index (LI), as assessed by incorporation of 3H-thymidine, was severely depressed in EGFR-KO uterine and vaginal grafts vs. stromal cell LI in WT uterine and vaginal grafts. Unexpectedly, epithelium of both EGFR-KO and wild-type grafts responded comparably to estradiol with a marked elevation (approximately 7-fold overall) of epithelial LI in response to estradiol in uterine and vaginal epithelia. These data supported the hypothesis that overall uterine and vaginal organ growth, in response to estrogen, required EGFR signaling for DNA synthesis in the fibromuscular stroma, whereas EGFR signaling was not essential for estrogen-induced epithelial growth in the uterus and vagina.
Animals↗
Keratinocyte growth factor injected into female mouse neonates stimulates uterine and vaginal epithelial growth.
Estradiol (E2) stimulates epithelial growth in the female genital tract via estrogen receptors (ER) in the stroma using paracrine mechanisms. Keratinocyte growth factor (KGF), a member of the fibroblast growth factor family, is produced by mesenchymal cells and is mitogenic for epithelial cells making it a strong candidate as a paracrine mediator. Transcripts for KGF and the KGF receptor were detected in the neonatal mouse uterus and vagina. Treatment of neonatal mice with KGF elicited changes in uterine and vaginal epithelium within five days and induced long term effects in these tissues. Newborn female Balb/c mice were injected daily with 5 microg/g body weight of KGF or saline for five days. KGF-treated mice exhibited a 5- to 6-fold increase in uterine epithelial BrdU-labeling index and a 4- and 5-fold increase in vaginal epithelial BrdU-labeling index vs. respective saline-treated controls. Histological sections of KGF-treated uteri revealed dramatic increases in epithelial surface area due to extensive folding of the luminal epithelium. In some areas, the evaginated luminal epithelium invaded zones normally occupied by myometrium. Vaginal epithelium was thicker than that of saline-treated controls following 5 days of KGF treatment. When KGF-treated newborn mice grew to adulthood and were ovariectomized, vaginal smears exhibited persistent diestrus in all animals. Histologic analysis demonstrated a thick parakeratotic vaginal epithelium (approximately 10 cell layers) 9 days postovariectomy in adult neonatally KGF-treated mice. Our studies indicate that KGF injected into neonates markedly stimulated proliferation of neonatal uterine and vaginal epithelium and elicited long-term, persistent abnormal changes in vaginal epithelium.
Aging↗
PCR-based strategy for the diagnosis of hereditary neuropathy with liability to pressure palsies and Charcot-Marie-Tooth disease type 1A.
Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP) are inherited peripheral neuropathies. In most cases these disorders are caused by either the duplication (in CMT1A) or the deletion (in HNPP) of a 1.5-megabase DNA fragment on chromosome 17p11.2, which contains the peripheral myelin protein 22 gene (PMP22). We developed a rapid and simple quantitative PCR assay for the detection of the CMT1A duplication or the HNPP deletion. The assay is based on the quantitative determination of the copy number of a 240-base pair DNA fragment from exon 4 of the PMP22 gene. Quantification was done on an automated fluorescence sequencer. Using this method we analyzed four families with the HNPP phenotype. In these families we identified the deletion in all affected individuals. To test the validity of the method, we compared the quantitative PCR results from 50 DNA samples, including 15 samples from individuals with HNPP, 15 samples from CMT1A patients, and 20 from normal controls, with the results obtained by Southern blot analysis. Concordant results were obtained in 49 of the 50 cases.
Blotting, Southern↗
Swimming performance of delta smelt: maximum performance, and behavioral and kinematic limitations on swimming at submaximal velocities.
Swimming performance, measured as critical swimming velocity (Ucrit) and endurance, and swimming behavior and kinematics were measured in delta smelt Hypomesus transpacificus, a threatened estuarine planktivore. Most fish (58 % of the Ucrit test group) were capable of achieving and sustaining moderately high velocities: mean Ucrit was 27.6±5.1 cm s-1 (s.d.). Ucrit was not affected by either acclimation temperature (12­21 °C) or fish size (3.2­6.8 cm standard length) and was generally comparable with values measured for other similarly sized fishes. The remaining 42 % of the fish failed to swim at velocities above 10­15 cm s-1. Interestingly, of the fish that provided a Ucrit measurement, 62 % experienced at least one temporary swimming failure between 10 and 20 cm s-1. Endurance was highly variable and, for all velocities, not normally distributed; the only significant decrease, from 6 h to 64 min, occurred between 10 and 15 cm s-1. Kinematic analyses of stroke frequency, stroke amplitude, stride length, glide frequency, glide duration, proportion of time spent stroking and the number of strokes between successive glides showed that delta smelt employed three velocity-dependent swimming gaits: a discontinuous 'stroke-and-glide' swimming behavior below 10 cm s-1; a continuous swimming behavior above 15 cm s-1 and up to Ucrit; and a discontinuous 'burst-and-glide' swimming behavior at velocities above Ucrit. Swimming failure at velocities between 10 and 20 cm s-1 coincided with the transition from 'stroke-and-glide' swimming to continuous swimming; delta smelt were unable or unwilling to swim steadily in the flume within this transition velocity range. These results underscore the importance of monitoring and quantifying behavior in experiments intended as physiological performance tests of whole animals.
Journal Article↗
Effect of restricted nutrition on timing of puberty in female Soay sheep.
Ovariectomized, oestradiol-implanted Soay ewe lambs from 21 September (aged 21 weeks) had restricted (liveweight maintenance) (n = 4) or unrestricted food (n = 4); ovary-intact lambs had unrestricted food (n = 8). LH activation in ovariectomized lambs on restricted and unrestricted food and onset of ovulatory cycles in ovary-intact lambs all occurred on 7 December (SED 8.8 days) (32 weeks), but at different liveweights (24.2, 17.9 and 18.3 kg, respectively, SED 1.22). LH pulse frequency was similar in ovariectomized lambs on restricted and unrestricted food. From 29 August (aged 18 weeks), Soay ewe lambs in seasonally advanced decreased artificial daylength were given restricted food, unrestricted food, or food was restricted for 8 weeks and then unrestricted (n = 8 per group). Ovarian cycles started 3 weeks earlier than in lambs in natural photoperiod on similar dates for all three groups (14, 18 and 19 November, respectively, SED 5.5 days) (29 weeks), but at different liveweights (16.2, 20.7, and 18.4 kg, respectively, SED 0.87). From 1 August, Suffolk x Greyface ewe lambs (aged 16 weeks) had restricted food, unrestricted food, or food restricted for 8 weeks and then unrestricted (n = 8 per group). By 1 November (29 weeks), 0/8 lambs on restricted food (29.3 +/- 0.92 kg) but 8/8 lambs on unrestricted food an 5/8 lambs on 8 weeks of restricted food had ovulated (mean dates: 16 October +/- 2.5 days (27 weeks, 40.1 +/- 1.02 kg), and 1 November +/- 3.0 days (29 weeks, 35.5 +/- 1.23 kg), respectively. Thus, nutritional growth restriction during the 11 weeks preceding normal puberty delayed pubertal data in the improved breed but did not influence the timing of puberty in the unimproved Soay breed within the weight range studied.
Animal Nutritional Physiological Phenomena↗
Inhibition of growth and induction of differentiation of glioma cell lines by oncostatin M (OSM).
The neuropoietic cytokines of the interleukin-6 family are a group of structurally and functionally related polypeptides. We studied the effect of the multifunctional neuropoietic cytokines, including oncostatin M (OSM), leukemia inhibitory factor (LIF) and interleukin-6 (IL-6), on anaplastic glioma cell lines. Growth and morphology of the glioma cell lines were affected differently. While IL-6 and LIF exerted no or only small minor morphological changes and growth retardation, OSM induced a marked change in morphology and a strong suppression of growth. OSM treated cells were characterized by enlargement and the formation of multiple, thin processes thus resembling mature cultured astrocytes. The growth inhibitory effects were dose dependent with a maximum exerted by addition of 50 ng/ml OSM. The inhibition of DNA synthesis by OSM could be abolished by antibodies blocking either the activity of OSM or the OSM-receptor component, gp130.
Antibodies↗
Characterization of a novel TNF-like ligand and recently described TNF ligand and TNF receptor superfamily genes and their constitutive and inducible expression in hematopoietic and non-hematopoietic cells.
A novel (TL1), a recently described (TL2) TNF-like, and three recently described TNF receptor-like (TR1, TR2, TR3) molecules were identified by searching a cDNA database. TL1 and TL2 are type-II membrane proteins. TR2 and TR3 are type-I membrane proteins whereas TR1 appears to be a secreted protein. TL1, TL2, TR2 and TR3 were expressed in hematopoietic cells, whereas TR1 was not. Northern blots hybridized with the cDNA probes revealed multiple forms of RNA as well as inducible expression of TL1, TL2, TR2 and TR3. TL2 and TR3, in particular, were highly induced in activated CD4+ T cells. Radiation hybrid mapping localized TR1 and TL2 to 8q24 and 3q26, respectively, which are not near any known superfamily members. TL1 was mapped to 9q32, near CD30L (9q33) and TR2 and TR3 mapped to the region of chromosome 1 that contains the TNFR-II, 4-1BB, OX40 and CD30 gene cluster at 1p36. Only TR3 in this cluster possesses a death domain. Southern blot analysis revealed the presence of TL and TR genes in different mammalian species. TL2, TR1, TR2 and TR3 were recently described by others as TRAIL/Apo-2L, OPG, HVEM and DR3/WSL-1/Apo-3/TRAMP/LARD, respectively.
Amino Acid Sequence↗
Family practice: birth and development of a specialty.
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Education, Medical, Graduate↗