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1.
Bone Joint J ; 97-B(11): 1546-54, 2015 Nov.
Article in English | MEDLINE | ID: mdl-26530659

ABSTRACT

Pain catastrophising is an adverse coping mechanism, involving an exaggerated response to anticipated or actual pain. The purpose of this study was to investigate the influence of pain 'catastrophising', as measured using the pain catastrophising scale (PCS), on treatment outcomes after surgery for lumbar spinal stenosis (LSS). A total of 138 patients (47 men and 91 women, mean age 65.9; 45 to 78) were assigned to low (PCS score < 25, n = 68) and high (PCS score ≥ 25, n = 70) PCS groups. The primary outcome measure was the Oswestry Disability Index (ODI) 12 months after surgery. Secondary outcome measures included the ODI and visual analogue scale (VAS) for back and leg pain, which were recorded at each assessment conducted during the 12-month follow-up period The overall changes in the ODI and VAS for back and leg pain over a 12-month period were significantly different between the groups (ODI, p < 0.001; VAS for back pain, p < 0.001; VAS for leg pain, p = 0.040). The ODI and VAS for back and leg pain significantly decreased over time after surgery in both groups (p < 0.001 for all three variables). The patterns of change in the ODI and VAS for back pain during the follow-up period significantly differed between the two groups, suggesting that the PCS group is a potential treatment moderator. However, there was no difference in the ODI and VAS for back and leg pain between the low and high PCS groups 12 months after surgery. In terms of minimum clinically important differences in ODI scores (12.8), 22 patients (40.7%) had an unsatisfactory surgical outcome in the low PCS group and 16 (32.6%) in the high PCS group. There was no statistically significant difference between the two groups (p = 0.539). Pre-operative catastrophising did not always result in a poor outcome 12 months after surgery, which indicates that this could moderate the efficacy of surgery for LSS.


Subject(s)
Adaptation, Psychological , Catastrophization/etiology , Chronic Pain/psychology , Lumbar Vertebrae/surgery , Spinal Stenosis/surgery , Aged , Back Pain/etiology , Back Pain/psychology , Catastrophization/psychology , Chronic Pain/etiology , Decompression, Surgical , Disability Evaluation , Female , Follow-Up Studies , Humans , Male , Middle Aged , Pain Measurement/methods , Spinal Fusion , Spinal Stenosis/complications , Spinal Stenosis/psychology , Treatment Outcome
2.
Biochemistry ; 54(29): 4507-18, 2015 Jul 28.
Article in English | MEDLINE | ID: mdl-26098991

ABSTRACT

Rhodopsin is the visual pigment responsible for initiating scotopic (dim-light) vision in vetebrates. Once activated by light, release of all-trans-retinal from rhodopsin involves hydrolysis of the Schiff base linkage, followed by dissociation of retinal from the protein moiety. This kinetic process has been well studied in model systems such as bovine rhodopsin, but not in rhodopsins from cold-blooded animals, where physiological temperatures can vary considerably. Here, we characterize the rate of retinal release from light-activated rhodopsin in an ectotherm, zebrafish (Danio rerio), demonstrating in a fluorescence assay that this process occurs more than twice as fast as bovine rhodopsin at similar temperatures in 0.1% dodecyl maltoside. Using site-directed mutagenesis, we found that differences in retinal release rates can be attributed to a series of variable residues lining the retinal channel in three key structural motifs: an opening in metarhodopsin II between transmembrane helix 5 (TM5) and TM6, in TM3 near E122, and in the "retinal plug" formed by extracellular loop 2 (EL2). The majority of these sites are more proximal to the ß-ionone ring of retinal than the Schiff base, indicating their influence on retinal release is more likely due to steric effects during retinal dissociation, rather than alterations to Schiff base stability. An Arrhenius plot of zebrafish rhodopsin was consistent with this model, inferring that the activation energy for Schiff base hydrolysis is similar to that of bovine rhodopsin. Functional variation at key sites identified in this study is consistent with the idea that retinal release might be an adaptive property of rhodopsin in vertebrates. Our study is one of the few investigating a nonmammalian rhodopsin, which will help establish a better understanding of the molecular mechanisms contributing to vision in cold-blooded vertebrates.


Subject(s)
Retinaldehyde/chemistry , Rhodopsin/chemistry , Zebrafish Proteins/chemistry , Amino Acid Substitution , Animals , Cattle , Half-Life , Hydrolysis , Mutagenesis, Site-Directed , Protein Binding/radiation effects , Protein Stability , Rhodopsin/genetics , Schiff Bases , Zebrafish Proteins/genetics
3.
Bone Joint J ; 95-B(2): 217-23, 2013 Feb.
Article in English | MEDLINE | ID: mdl-23365032

ABSTRACT

We evaluated the efficacy of Escherichia coli-derived recombinant human bone morphogenetic protein-2 (E-BMP-2) in a mini-pig model of spinal anterior interbody fusion. A total of 14 male mini-pigs underwent three-level anterior lumbar interbody fusion using polyether etherketone (PEEK) cages containing porous hydroxyapatite (HA). Four groups of cages were prepared: 1) control (n = 10 segments); 2) 50 µg E-BMP-2 (n = 9); 3) 200 µg E-BMP-2 (n = 10); and 4) 800 µg E-BMP-2 (n = 9). At eight weeks after surgery the mini-pigs were killed and the specimens were evaluated by gross inspection and manual palpation, radiological evaluation including plain radiographs and micro-CT scans, and histological analysis. Rates of fusion within PEEK cages and overall union rates were calculated, and bone formation outside vertebrae was evaluated. One animal died post-operatively and was excluded, and one section was lost and also excluded, leaving 38 sites for assessment. This rate of fusion within cages was 30.0% (three of ten) in the control group, 44.4% (four of nine) in the 50 µg E-BMP-2 group, 60.0% (six of ten) in the 200 µg E-BMP-2 group, and 77.8% (seven of nine) in the 800 µg E-BMP-2 group. Fusion rate was significantly increased by the addition of E-BMP-2 and with increasing E-BMP-2 dose (p = 0.046). In a mini-pig spinal anterior interbody fusion model using porous HA as a carrier, the implantation of E-BMP-2-loaded PEEK cages improved the fusion rate compared with PEEK cages alone, an effect that was significantly increased with increasing E-BMP-2 dosage.


Subject(s)
Bone Morphogenetic Protein 2/administration & dosage , Osteogenesis/drug effects , Spinal Fusion/methods , Transforming Growth Factor beta/administration & dosage , Animals , Escherichia coli , Humans , Male , Recombinant Proteins/administration & dosage , Swine , Swine, Miniature
4.
Phys Rev Lett ; 104(25): 252301, 2010 Jun 25.
Article in English | MEDLINE | ID: mdl-20867367

ABSTRACT

Hard-scattered parton probes produced in collisions of large nuclei indicate large partonic energy loss, possibly with collective produced-medium response to the lost energy. We present measurements of π^{0} trigger particles at transverse momenta p{T}{t}=4-12 GeV/c and associated charged hadrons (p{T}{a}=0.5-7 GeV/c) vs relative azimuthal angle Δϕ in Au+Au and p+p collisions at sqrt[s{NN}]=200 GeV. The Au+Au distribution at low p{T}{a}, whose shape has been interpreted as a medium effect, is modified for p{T}{t}<7 GeV/c. At higher p{T}{t}, the data are consistent with unmodified or very weakly modified shapes, even for the lowest measured p{T}{a}, which quantitatively challenges some medium response models. The associated yield of hadrons opposing the trigger particle in Au+Au relative to p+p (I{AA}) is suppressed at high p{T} (I{AA}≈0.35-0.5), but less than for inclusive suppression (R{AA}≈0.2).

6.
Neurogastroenterol Motil ; 22(1): 93-7, e32, 2010 Jan.
Article in English | MEDLINE | ID: mdl-19694963

ABSTRACT

Proteinase-activated receptors 1 and 2 mediate contraction of the human gallbladder. In the present study, we investigated effects mediated by proteinase-activated receptors (PARs) in the human oesophagus by measuring contraction of muscularis mucosae strips isolated from the human oesophagus. Both PAR(1) agonists (thrombin, SFLLRN-NH(2) and TFLLR-NH(2)) and PAR(2) agonists (trypsin, 2-furoyl-LIGRLO-NH(2) and SLIGKV-NH(2)) caused concentration-dependent contraction. In contrast, PAR(1) and PAR(2) control peptides did not cause contraction. The existence of PAR(1) and PAR(2) in the human oesophageal muscularis mucosae was confirmed by immunohistochemistry and reverse transcription-polymerase chain reaction. On the other hand, PAR(4) agonists, GYPGKF-NH(2), GYPGQV-NH(2) and AYPGKF-NH(2), did not cause contraction or relaxation in resting or carbachol-contracted muscularis mucosae strips, suggesting that PAR(4) is not involved in human oesophageal motility. The contractile responses to SFLLRN-NH(2) and trypsin in the human oesophagus were insensitive to atropine and tetrodotoxin, indicating that the contractile response was not neurally mediated. Taken together, these results demonstrate that PAR(1) and PAR(2) but not PAR(4) mediate contraction in human oesophageal muscularis mucosae. PAR(1) and PAR(2) may influence human oesophageal motility.


Subject(s)
Esophagus , Mucous Membrane/metabolism , Muscle Contraction/physiology , Receptor, PAR-1/metabolism , Receptor, PAR-2/metabolism , Adult , Aged , Animals , Esophagus/anatomy & histology , Esophagus/physiology , Female , Gastrointestinal Motility/physiology , Humans , Male , Middle Aged , Receptor, PAR-1/agonists , Receptor, PAR-1/genetics , Receptor, PAR-2/agonists , Receptor, PAR-2/genetics , Receptors, Thrombin/agonists , Receptors, Thrombin/genetics , Receptors, Thrombin/metabolism , Thrombin/metabolism
7.
Phys Rev Lett ; 103(8): 082002, 2009 Aug 21.
Article in English | MEDLINE | ID: mdl-19792719

ABSTRACT

The momentum distribution of electrons from semileptonic decays of charm and bottom quarks for midrapidity |y|<0.35 in p+p collisions at square root of s=200 GeV is measured by the PHENIX experiment at the Relativistic Heavy Ion Collider over the transverse momentum range 2e(+/-)K(-/+)X (K unidentified) reconstruction. It is found that the yield of electrons from bottom becomes significant above 4 GeV/c in pT. A fixed-order-plus-next-to-leading-log perturbative quantum chromodynamics calculation agrees with the data within the theoretical and experimental uncertainties. The extracted total bottom production cross section at this energy is sigma(bb)=3.2(-1.1)(+1.2)(stat)(-1.3)(+1.4)(syst)mub.

8.
Phys Rev Lett ; 103(1): 012003, 2009 Jul 03.
Article in English | MEDLINE | ID: mdl-19659137

ABSTRACT

The double helicity asymmetry in neutral pion production for pT=1 to 12 GeV/c was measured with the PHENIX experiment to access the gluon-spin contribution, DeltaG, to the proton spin. Measured asymmetries are consistent with zero, and at a theory scale of micro2=4 GeV2 a next to leading order QCD analysis gives DeltaG[0.02,0.3]=0.2, with a constraint of -0.7

9.
J Food Sci ; 74(2): H59-64, 2009 Mar.
Article in English | MEDLINE | ID: mdl-19323752

ABSTRACT

This study was performed to compare the effect of liver protection of fine saengshik (FS) and superfine saengshik (SS) and uncooked and powdered grains and vegetables, produced by the different mill technique on the acute hepatotoxicity induced by CCl(4) in mouse. As the result of particle size distribution in number, particles included under 0.955 microm dia were 7.02% and 68.92% respectively. Hematological and serological examination showed that AST (P < 0.05) and ALT (P < 0.05) of SS + CCl(4) group decreased significantly compared with those of FS + CCl(4) group. On the examination of antioxidant effect, water extract of SS showed a higher superoxide dismutase (SOD)-like activity on the condition of the HX/XOD system than that of FS (P < 0.001). Also, the glutathione peroxidase (P < 0.01) and glutathione reductase (P < 0.05) activities in liver showed a significant difference between FS + CCl(4) and SS + CCl(4) groups. On the histological observation of liver, SS + CCl(4) group showed a mild reversible hepatocytic change and infiltration of inflammatory cells around the central veins, whereas FS + CCl(4) group showed severe agglutination necrosis by CCl(4) toxicity. These results suggest that superfine saengshik significantly improves liver protection effect compared with fine saengshik; its major mechanism is supposed to be the improved antioxidant effect of saengshik by reduced size of particles.


Subject(s)
Edible Grain/chemistry , Food, Organic/analysis , Liver/physiology , Vegetables/chemistry , Animal Feed , Animals , Carbon Tetrachloride/toxicity , Diet, Macrobiotic , Food, Organic/standards , Food, Organic/toxicity , Glutathione Peroxidase/metabolism , Glutathione Reductase/metabolism , Liver/drug effects , Liver/enzymology , Liver/pathology , Male , Mice , Mice, Inbred ICR
10.
Phys Rev Lett ; 101(23): 232301, 2008 Dec 05.
Article in English | MEDLINE | ID: mdl-19113542

ABSTRACT

For Au + Au collisions at 200 GeV, we measure neutral pion production with good statistics for transverse momentum, pT, up to 20 GeV/c. A fivefold suppression is found, which is essentially constant for 5 < pT < 20 GeV/c. Experimental uncertainties are small enough to constrain any model-dependent parametrization for the transport coefficient of the medium, e.g., q in the parton quenching model. The spectral shape is similar for all collision classes, and the suppression does not saturate in Au + Au collisions.

11.
Phys Rev Lett ; 101(16): 162301, 2008 Oct 17.
Article in English | MEDLINE | ID: mdl-18999660

ABSTRACT

Neutral pion transverse momentum (p(T)) spectra at midrapidity (|y| less than or approximately 0.35) were measured in Cu+Cu collisions at sqrt[s(NN)]=22.4, 62.4, and 200 GeV. Relative to pi_(0) yields in p+p collisions scaled by the number of inelastic nucleon-nucleon collisions (N(coll) the pi_(0) yields for p(T) more than or approximately 2 GeV/c in central Cu+Cu collisions are suppressed at 62.4 and 200 GeV whereas an enhancement is observed at 22.4 GeV. A comparison with a jet-quenching model suggests that final state parton energy loss dominates in central Cu+Cu collisions at 62.4 and 200 GeV, while the enhancement at 22.4 GeV is consistent with nuclear modifications in the initial state alone.

12.
Phys Rev Lett ; 101(12): 122301, 2008 Sep 19.
Article in English | MEDLINE | ID: mdl-18851363

ABSTRACT

Yields for J/psi production in Cu+Cu collisions at sqrt s_NN=200 GeV have been measured over the rapidity range |y|<2.2 and compared with results in p+p and Au+Au collisions at the same energy. The Cu+Cu data offer greatly improved precision over existing Au+Au data for J/psi production in collisions with small to intermediate numbers of participants, in the range where the quark-gluon plasma transition threshold is predicted to lie. Cold nuclear matter estimates based on ad hoc fits to d+Au data describe the Cu+Cu data up to N_part approximately 50, corresponding to a Bjorken energy density of at least 1.5 GeV/fm(3).

13.
Neurogastroenterol Motil ; 20(10): 1140-6, 2008 Oct.
Article in English | MEDLINE | ID: mdl-18651869

ABSTRACT

Leucotriene D(4) (LTD(4)) causes contraction of the guinea-pig and cat oesophagus. Effects of cysteinyl leucotrienes in the human oesophagus were unknown. To investigate and compare the cysteinyl leucotriene effects in the human oesophagus with those in the guinea-pig oesophagus, we measured contraction of muscularis mucosae strips isolated from the human and guinea-pig oesophagus caused by cysteinyl leucotrienes, LTC(4), LTD(4) and LTE(4), as well as the dihydroxy leucotriene, LTB(4). Effects of leucotrienes in human were similar to those in guinea-pig oesophagus. LTC(4) and LTD(4) caused moderate, whereas LTE(4) caused mild, concentration-dependent contraction. LTE(4) was a partial agonist. In contrast, LTB(4) did not cause any contraction. The relative potencies for cysteinyl leucotrienes to cause contraction were LTD(4) = LTC(4) > LTE(4). The LTD(4)-induced contraction was moderately inhibited by two selective CysLT(1) receptor antagonists, montelukast and zafirlukast, in both human and guinea-pig oesophagus. In addition, the LTD(4)-induced contraction was not and only slightly inhibited by BAY u9773, the CysLT(1) and CysLT(2) receptor antagonist, in the human and guinea-pig oesophageal muscularis mucosae respectively. These indicate the existence of the CysLT(1) mediating oesophageal contraction in both human and guinea-pig oesophagus. The LTD(4)-induced contraction was not affected by tetrodotoxin, atropine or capsaicin, suggesting a direct effect. These results demonstrate that cysteinyl leucotrienes but not the dihydroxy leucotriene cause contraction in the human and guinea-pig oesophagus. CysLT(1) mediates contraction in both human and guinea-pig oesophagus.


Subject(s)
Esophagus/physiology , Leukotrienes/metabolism , Muscle Contraction/physiology , Receptors, Leukotriene/metabolism , Acetates/pharmacology , Animals , Atropine/pharmacology , Capsaicin/pharmacology , Carbachol/pharmacology , Cholinergic Agonists/pharmacology , Cyclopropanes , Esophagus/anatomy & histology , Esophagus/drug effects , Guinea Pigs , Humans , Indoles , Leukotriene Antagonists/pharmacology , Male , Muscarinic Antagonists/pharmacology , Muscle Contraction/drug effects , Phenylcarbamates , Quinolines/pharmacology , Receptors, Leukotriene/genetics , SRS-A/analogs & derivatives , SRS-A/pharmacology , Sensory System Agents/pharmacology , Sodium Channel Blockers/pharmacology , Sulfides , Sulfonamides , Tetrodotoxin/pharmacology , Tosyl Compounds/pharmacology
14.
J Insect Physiol ; 54(6): 931-8, 2008 Jun.
Article in English | MEDLINE | ID: mdl-18406421

ABSTRACT

The viviparous cockroach, Diploptera punctata, has been a valuable model organism for studies of the regulation of reproduction by juvenile hormone (JH) in insects. As a result of its truly viviparous mode of reproduction, precise regulation of JH biosynthesis and reproduction is required for production of offspring, providing a model system for the study of the relationship between JH production and oocyte growth and maturation. Most studies to date have focused on individuals isolated from a Hawaiian population of this species. A new population of this cockroach was found in Nakorn Pathom, Thailand, which demonstrated striking differences in cuticle pigmentation and mating behaviours, suggesting possible physiological differences between the two populations. To better characterize these differences, rates of JH release and oocyte growth were measured during the first gonadotrophic cycle. The Thai population was found to show significantly earlier increases in the rate of JH release, and oocyte development as compared with the Hawaiian population. Breeding experiments to determine the degree of interfertility between the two populations demonstrated greatly reduced fertility in crosses between the two populations. Additionally, levels of genetic divergence between the two populations estimated by sequencing a fragment of the mitochondrial 16S rRNA gene were surprisingly high. The significant differences in physiology and mating behaviours, combined with the reduced interfertility and high levels of sequence divergence, suggest that these two populations of D. punctata are quite distinct, and may even be in the process of speciation. Moreover, these studies have important implications for the study of JH function in the reproductive cycle of insects, as differences in timing of rates of JH biosynthesis may suggest a process of heterochrony in reproduction between the two populations.


Subject(s)
Cockroaches/classification , Cockroaches/physiology , Juvenile Hormones/biosynthesis , Oviparity , Sexual Behavior, Animal , Animals , Cockroaches/anatomy & histology , Cockroaches/genetics , DNA, Mitochondrial/genetics , DNA, Ribosomal/genetics , Female , Hawaii , Hybridization, Genetic , Male , Oocytes/growth & development , Phylogeny , RNA, Ribosomal, 16S/genetics , Thailand
15.
AJNR Am J Neuroradiol ; 29(5): 1017-23, 2008 May.
Article in English | MEDLINE | ID: mdl-18272560

ABSTRACT

BACKGROUND AND PURPOSE: Although diagnostic lumbar selective nerve root blocks are often used to confirm the pain-generating nerve root level, the reported accuracy of these blocks has been variable and their usefulness is controversial. The purpose of this study was to evaluate the accuracy of diagnostic lumbar selective nerve root blocks to analyze potential causes of false results in a prospective, controlled, single-blinded manner. MATERIALS AND METHODS: A total of 105 block anesthetics were performed under fluoroscopic guidance in 47 consecutive patients with pure radiculopathy from a single confirmed level: 47 blocks were performed at the symptomatic level, and 58 were performed at the adjacent asymptomatic "control" level. Contrast and local anesthetics were injected, and spot radiographs were taken in all cases. We calculated the diagnostic value of the block anesthetics using concordance with the injected level. We analyzed the potential causes of false results using spot radiographs. RESULTS: On the basis of a definition of a positive block as 70% pain relief, determined by receiver-operator characteristic (ROC) analysis, diagnostic lumbar selective nerve root block anesthetics had a sensitivity of 57%, a specificity of 86%, an accuracy of 73%, a positive predictive value of 77%, and a negative predictive value of 71%. False-negatives were due to the following causes identifiable on spot radiographs: insufficient infiltration, insufficient passage of the injectate, and intraepineural injections. On the other hand, false-positives resulted from overflow of the injectate from the injected asymptomatic level into either the epidural space or symptomatic level. CONCLUSION: The accuracy of diagnostic lumbar selective nerve root blocks is only moderate. To improve the accuracy, great care should be taken to avoid inadequate blocks and overflow, and to precisely interpret spot radiographs.


Subject(s)
Low Back Pain/diagnosis , Low Back Pain/therapy , Nerve Block/methods , Adolescent , Adult , Aged , Female , Humans , Male , Middle Aged , Prospective Studies , Reproducibility of Results , Sensitivity and Specificity
16.
Neurology ; 69(23): 2146-54, 2007 Dec 04.
Article in English | MEDLINE | ID: mdl-18056578

ABSTRACT

BACKGROUND: Multiple lines of evidence have suggested that developmental dyslexia may be associated with abnormalities of neuronal migration or axonal connectivity. In patients with periventricular nodular heterotopia--a rare genetic brain malformation characterized by misplaced nodules of gray matter along the lateral ventricles--a specific and unexpected reading disability is present, despite normal intelligence. We sought to investigate the cognitive and structural brain bases of this phenomenon. METHODS: Ten adult subjects with heterotopia, 10 with dyslexia, and 10 normal controls were evaluated, using a battery of neuropsychometric measures. White matter integrity and fiber tract organization were examined in six heterotopia subjects, using diffusion tensor imaging methods. RESULTS: Subjects with heterotopia and those with developmental dyslexia shared a common behavioral profile, with specific deficits in reading fluency. Individuals with dyslexia seemed to have a more prominent phonological impairment than heterotopia subjects. Periventricular nodular heterotopia was associated with specific, focal disruptions in white matter microstructure and organization in the vicinity of gray matter nodules. The degree of white matter integrity correlated with reading fluency in this population. CONCLUSIONS: We demonstrate that a genetic disorder of gray matter heterotopia shares behavioral characteristics with developmental dyslexia, and that focal white matter defects in this disorder may serve as the structural brain basis of this phenomenon. Our findings represent a potential model for the use of developmental brain malformations in the investigation of abnormal cognitive function.


Subject(s)
Brain/abnormalities , Dyslexia/pathology , Malformations of Cortical Development, Group II/pathology , Neural Pathways/abnormalities , Periventricular Nodular Heterotopia/pathology , Adult , Dyslexia/etiology , Female , Humans , Magnetic Resonance Imaging , Male , Malformations of Cortical Development, Group II/complications , Nerve Fibers, Myelinated/pathology , Periventricular Nodular Heterotopia/complications , Reading
19.
Phys Rev Lett ; 98(16): 162301, 2007 Apr 20.
Article in English | MEDLINE | ID: mdl-17501413

ABSTRACT

Differential measurements of elliptic flow (v2) for Au+Au and Cu+Cu collisions at sqrt[sNN]=200 GeV are used to test and validate predictions from perfect fluid hydrodynamics for scaling of v2 with eccentricity, system size, and transverse kinetic energy (KE T). For KE T identical with mT-m up to approximately 1 GeV the scaling is compatible with hydrodynamic expansion of a thermalized fluid. For large values of KE T mesons and baryons scale separately. Quark number scaling reveals a universal scaling of v2 for both mesons and baryons over the full KE T range for Au+Au. For Au+Au and Cu+Cu the scaling is more pronounced in terms of KE T, rather than transverse momentum.

20.
Neurology ; 66(1): 133-5, 2006 Jan 10.
Article in English | MEDLINE | ID: mdl-16401865

ABSTRACT

A number of familial syndromes of bilateral polymicrogyria (PMG) have been described, but reported unilateral PMG cases have generally been sporadic. The authors identified four families in which unilateral right-sided PMG on MRI was present in more than one individual, with pathologic confirmation in one. Core clinical features included contralateral hemiparesis, developmental delay, and focal seizures. The authors' findings suggest that unilateral PMG exists in a familial syndrome of probable germline genetic origin.


Subject(s)
Cerebral Cortex/abnormalities , Functional Laterality/genetics , Genetic Predisposition to Disease/genetics , Nervous System Malformations/diagnosis , Nervous System Malformations/genetics , Adolescent , Adult , Child , Child, Preschool , Developmental Disabilities/diagnosis , Developmental Disabilities/genetics , Developmental Disabilities/physiopathology , Epilepsies, Partial/diagnosis , Epilepsies, Partial/genetics , Family Health , Female , Humans , Inheritance Patterns/genetics , Intellectual Disability/diagnosis , Intellectual Disability/genetics , Intellectual Disability/physiopathology , Magnetic Resonance Imaging , Male , Neurofibromatosis 1/complications , Neurofibromatosis 1/genetics , Paresis/diagnosis , Paresis/genetics , Paresis/physiopathology , Pedigree , Syndrome
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