Macular retinoschisis in eyes with glaucomatous optic neuropathy: Vitrectomy and natural course.

Science.gov (United States)

Yoshikawa, Tadanobu; Yamanaka, Chihiro; Kinoshita, Takamasa; Morikawa, Shohei; Ogata, Nahoko

2018-02-01

Our purpose was to determine the effectiveness of vitrectomy in resolving the macular retinoschisis in an eye with glaucomatous optic neuropathy and also to determine the natural course of macular retinoschisis. This was a retrospective case series of patients who were diagnosed with macular retinoschisis and glaucomatous optic neuropathy. Fourteen eyes of 13 patients were studied. Patients with high myopia, vitreomacular traction syndrome, and the pit macular syndrome were excluded. There were three men and ten women, and 12 had unilateral and one had bilateral macular retinoschisis. Vitrectomy was performed for a serous retinal detachment, macular hole, or severe visual loss in five eyes. The mean follow-up time was 68.8 months in these five eyes, and the macular retinoschisis was resolved and the best-corrected visual acuity (BCVA) at the final visit was significantly improved in all eyes (P = 0.007). However, two of these fiv e eyes developed a macular hole and required a second vitrectomy. Of the nine eyes without treatment with a mean follow-up time of 29.0 months, the BCVA at the final visit remained unchanged from the baseline BCVA in all eyes. The macular retinoschisis was resolved or reduced in three eyes without treatment. Vitrectomy was effective for the resolution of macular retinoschisis in eyes with glaucomatous optic neuropathy and serous retinal detachment or macular hole or severe reduction of the BCVA. Macular retinoschisis can be resolved without a reduction of the BCVA in some cases without treatment.

Lack of association of the Norrie disease gene with retinoschisis phenotype.

Science.gov (United States)

Shastry, B S; Hiraoka, M; Trese, M T

2000-01-01

It has been reported recently that mice carrying a disrupted Norrie disease gene produced alterations in the murine eye that are similar to congenital retinoschisis. Therefore, it was of interest to determine whether mutations in the Norrie disease gene can account for the disease in families with retinoschisis that do not carry mutations in the retinoschisis gene. The patient set comprised 5 cases of retinoschisis (1 familial and 4 sporadic), all unrelated to each other. Fundus examination of affected individuals showed foveal and peripheral schisis, and the visual acuity range was 20/40-20/60. Peripheral blood specimens were collected from affected and unaffected family members. DNA was extracted and amplified by polymerase chain reaction amplification of exons of the Norrie disease gene. The amplified products were sequenced by the dideoxy chain termination method. The data revealed no disease-specific sequence alterations in the Norrie disease gene. Although we cannot completely exclude the possibility of the Norrie disease gene as a candidate gene, the above results suggest that the structural and functional changes in the Norrie disease gene are not associated with clinically typical retinoschisis families that do not contain mutations in the coding regions and splice sites of the retinoschisis gene.

Prevalence and long-term natural course of retinoschisis among elderly individuals

DEFF Research Database (Denmark)

Buch, Helena; Vinding, Troels; Nielsen, Niels V

2007-01-01

from 1986 to 1988. Excluding participants who died since baseline, 359 persons (97.3% of survivors) were reexamined after 14 years from 2000 to 2002. Of the 946 participants, 35 persons had prevalent retinoschisis in 1 or both eyes at baseline and 15 of these persons were alive at follow-up. METHODS......: Participants underwent an extensive ophthalmologic examination at Rigshospitalet, the National University Hospital of Copenhagen. Standardized protocols for the ophthalmologic examination included retinal evaluation by use of Goldmann's 3-mirror contact lens and ultrasonic B-scan of the retina. Data for the 20...... occurred during follow-up (2.2%). This was preceded by cataract surgery. Four persons developed retinoschisis in the contralateral eye during follow-up; therefore, the incidence of retinoschisis was 16% and bilaterality was 57.1% at follow-up. However, in 14 persons (73.7%) the retinoschisis remained...

Visual recovery after surgical repair of chronic macular detachment associated with peripheral retinoschisis

OpenAIRE

Vaidehi S. Dedania; Devon H. Ghodasra; Mark W. Johnson

2018-01-01

Purpose: To report 2 cases of chronic macular detachment associated with peripheral retinoschisis in which surgical repair resulted in significant visual recovery. Observations: A 44-year-old man and 60-year-old woman were evaluated for chronic macular detachment, with a duration of 5 years and 6 months, respectively. In each case, optical coherence tomography was used to establish a diagnosis of full-thickness macular detachment resulting from peripheral retinoschisis and to confirm or ident...

Juvenile muscular atrophy of the distal upper extremities associated with x-linked periventricular heterotopia with features of Ehlers-Danlos syndrome.

Science.gov (United States)

Hommel, Alyson L; Jewett, Tamison; Mortenson, Megan; Caress, James B

2016-10-01

Juvenile muscular atrophy of the distal upper extremities (JMADUE) is a rare, sporadic disorder that affects adolescent males and is characterized by progressive but self-limited weakness of the distal upper extremities. The etiology is unknown, but cervical hyperflexion has been hypothesized. We report a case of an adolescent male who presented with typical JMADUE but also had joint hypermobility and multiple congenital anomalies, including periventricular heterotopias, suggesting a multisystem syndrome. Subsequent diagnostic testing confirmed a diagnosis of JMADUE, and sequencing of the filamin-A gene showed a novel, pathogenic mutation that confirmed an additional diagnosis of X-linked periventricular heterotopias with features of Ehlers-Danlos syndrome (XLPH-EDS). The concurrent diagnosis of these 2 rare conditions suggests a pathogenic connection. It is likely that the joint hypermobility from XLPH-EDS predisposed this patient to developing JMADUE. This supports the cervical hyperflexion theory of pathogenesis. This case also expands the phenotype associated with FLNA mutations. Muscle Nerve 54: 794-797, 2016. © 2016 Wiley Periodicals, Inc.

Characteristic of x-ray picture of urolithiasis in children and juveniles

International Nuclear Information System (INIS)

Kramnij, Yi.O.; Bortnij, M.O.; Voron'zhev, Yi.O.; Ul'yanchenko, Yi.M.

1999-01-01

More exactly the characteristics of urolithiasis x-ray picture in children and juveniles was defined. X-ray study of 42 patients. Mainly x-ray positive calculi localized in the pelvis and ureters occur in children patients

Retinoschisis (Juvenile)

Science.gov (United States)

... Campaign to End Blindness Other Ways to Fight Blindness Corporate Support Volunteer Take Action You are here ... the retina responsible for fine visual detail and color perception. On examination, the fovea (the center of ...

The Missing Link between Juvenile Delinquency and Pediatric Posttraumatic Stress Disorder: An Attachment Theory Lens.

Science.gov (United States)

Amatya, Pooja L; Barzman, Drew H

2012-01-01

The present paper reviews pediatric posttraumatic stress disorder, emphasizing the relational basis of the disorder and highlighting the missing link between juvenile delinquency and trauma. The first part of the paper defines trauma and the diagnostic criteria for PTSD, noting child-specific features. The second part reviews the literature emphasizing the relational and attachment relevant nature of trauma. The third part explores psychological mechanisms for how attachment relations could affect trauma responses. Attachment relations (1) shape core schemas of the world, others, and the self and (2) foster emotional engagement or disengagement, both of which have been associated with traumatic responses. The most empirically supported pediatric trauma treatment, trauma-focused cognitive behavioral therapy (TF-CBT), acknowledges the attachment figure's influence and includes treating and training the parent and conjoint child-parent discussion. The next section reviews the noteworthy link between juvenile delinquency and trauma history. More awareness of trauma and PTSD in children and adolescents is recommended to effectively address juvenile delinquency. The review ends with a few helpful points for practicing pediatricians regarding childhood trauma.

Bardet-Biedl Syndrome

Science.gov (United States)

... Linked Retinoschisis (XLRS) X-Linked Retinitis Pigmentosa (XLRP) Usher Syndrome Other Retinal Diseases Glossary News & Research News & Research ... the autosomal recessive pattern of inheritance. In this type of inheritance both parents, called carriers, have one ...

Retinitis Pigmentosa

Science.gov (United States)

... Linked Retinoschisis (XLRS) X-Linked Retinitis Pigmentosa (XLRP) Usher Syndrome Other Retinal Diseases Glossary News & Research News & Research ... degenerate. Forms of RP and related diseases include Usher syndrome, Leber congenital amaurosis, and Bardet-Biedl syndrome, among ...

Retinal Diseases

Science.gov (United States)

... Linked Retinoschisis (XLRS) X-Linked Retinitis Pigmentosa (XLRP) Usher Syndrome Other Retinal Diseases Glossary News & Research News & Research ... central portion of the retina called the macula. Usher Syndrome Usher syndrome is an inherited condition characterized by ...

Genetics Home Reference: X-linked creatine deficiency

Science.gov (United States)

... Health Conditions X-linked creatine deficiency X-linked creatine deficiency Printable PDF Open All Close All Enable ... view the expand/collapse boxes. Description X-linked creatine deficiency is an inherited disorder that primarily affects ...

Genetics Home Reference: X-linked sideroblastic anemia

Science.gov (United States)

... Conditions X-linked sideroblastic anemia X-linked sideroblastic anemia Printable PDF Open All Close All Enable Javascript ... the expand/collapse boxes. Description X-linked sideroblastic anemia is an inherited disorder that prevents developing red ...

Mapping the x-linked lymphoproliferative syndrome

International Nuclear Information System (INIS)

Skare, J.C.; Milunsky, A.; Byron, K.S.; Sullivan, J.L.

1987-01-01

The X-linked lymphoproliferative syndrome is triggered by Epstein-Barr virus infection and results in fatal mononucleosis, immunodeficiency, and lymphoproliferative disorders. This study shows that the mutation responsible for X-linked lymphoproliferative syndrome is genetically linked to a restriction fragment length polymorphism detected with the DXS42 probe (from Xq24-q27). The most likely recombination frequency between the loci is 4%, and the associated logarithm of the odds is 5.26. Haplotype analysis using flanking restriction fragment length polymorphism markers indicates that the locus for X-linked lymphoproliferative syndrome is distal to probe DXS42 but proximal to probe DXS99 (from Xq26-q27). It is now possible to predict which members of a family with X-linked lymphoproliferative syndrome are carrier females and to diagnose the syndrome prenatally

Mapping the x-linked lymphoproliferative syndrome

Energy Technology Data Exchange (ETDEWEB)

Skare, J.C.; Milunsky, A.; Byron, K.S.; Sullivan, J.L.

1987-04-01

The X-linked lymphoproliferative syndrome is triggered by Epstein-Barr virus infection and results in fatal mononucleosis, immunodeficiency, and lymphoproliferative disorders. This study shows that the mutation responsible for X-linked lymphoproliferative syndrome is genetically linked to a restriction fragment length polymorphism detected with the DXS42 probe (from Xq24-q27). The most likely recombination frequency between the loci is 4%, and the associated logarithm of the odds is 5.26. Haplotype analysis using flanking restriction fragment length polymorphism markers indicates that the locus for X-linked lymphoproliferative syndrome is distal to probe DXS42 but proximal to probe DXS99 (from Xq26-q27). It is now possible to predict which members of a family with X-linked lymphoproliferative syndrome are carrier females and to diagnose the syndrome prenatally.

X-linked hypophosphatemic rickets without 'rickets'

International Nuclear Information System (INIS)

Econs, M.J.; Feussner, J.R.; Quarles, L.D.; Veterans Administration Medical Center, Durham, NC; Samsa, G.P.; Veterans Administration Medical Center, Durham, NC; Effman, E.L.; Vogler, J.B.; Martinez, S.; Veterans Administration Medical Center, Durham, NC; Friedman, N.E.; Veterans Administration Medical Center, Durham, NC; Drezner, M.K.; Duke Univ. Medical Center, Durham, NC; Veterans Administration Medical Center, Durham, NC

1991-01-01

Wrist and knee radiographs from children with X-linked hypophosphatemic rickets were analyzed and compared with those from normal children and children with established rickets to assess whether radiographically apparent rickets is a consistent abnormality in X-linked hypophosphatemia. The absence or presence of rickets was correctly identified in 94.8% of wrist and knee films from normal and positive controls. In contrast, patients with X-linked hypophosphatemia exhibited rachitic abnormalities in only 5 of 11 wrist and 13 of 15 knee radiographs. Our data indicate that radiographically detectable rickets is a variable abnormality of X-linked hypophosphatemia and does not provide an unambiguous index for the diagnosis of this disease. (orig./GDG)

Juvenile flatfish in the northern Baltic Sea - long-term decline and potential links to habitat characteristics

Science.gov (United States)

Jokinen, Henri; Wennhage, Håkan; Ollus, Victoria; Aro, Eero; Norkko, Alf

2016-01-01

Flatfish in the northern Baltic Sea are facing multiple environmental pressures due to on-going large-scale ecosystem changes linked to eutrophication and climate change. Shallow juvenile habitats of flatfishes are expected to be especially susceptible to these environmental pressures. Using previously unpublished historical and present-state data on juvenile flatfish in nursery areas along the Finnish coast we demonstrate a drastic (up to 40 ×) decline in 1-Y-O flounder densities since the 1980s and a particularly low current occurrence of both flounders and turbots in several known juvenile habitats. As a consequence of ongoing coastal eutrophication vegetation coverage and filamentous algae have generally increased in shallow areas. We examined the predicted negative effect of vegetation/algae by exploring quantitative relationships between juvenile flatfish (flounder and turbot) occurrence and vegetation/algae among other environmental factors in shallow juvenile habitats. Despite sparse occurrence of juveniles we found a significant negative relationship between flatfish abundance and vegetation cover, implicating eutrophication as a potential major driver affecting the value of juvenile habitat. Shallow littoral habitats play a particularly central role for flatfish due to the spatial concentration of fish in these areas during the critical juvenile stage. Despite their importance, these areas have been relatively poorly studied in the northern Baltic Sea, which makes it difficult to quantify overall changes in environmental conditions and to relate these changes to flatfish recruitment. The low present-state flatfish densities recorded preclude strong inferences of the role of habitat quality to be drawn. Our study does, however, provide a baseline for future assessment. Based on existing evidence, we cannot thus establish any bottlenecks but hypothesize that the current low occurrence of juvenile flatfish, and the population decline of flounder on the

Early photoreceptor outer segment loss and retinoschisis in Cohen syndrome.

Science.gov (United States)

Uyhazi, Katherine E; Binenbaum, Gil; Carducci, Nicholas; Zackai, Elaine H; Aleman, Tomas S

2018-06-01

To describe early structural and functional retinal changes in a patient with Cohen syndrome. A 13-month-old Caucasian girl of Irish and Spanish ancestry was noted to have micrognathia and laryngomalacia at birth, which prompted a genetic evaluation that revealed biallelic deletions in COH1 (VPS13B) (a maternally inherited 60-kb deletion involving exons 26-32 and a paternally inherited 3.5-kb deletion within exon 17) consistent with Cohen syndrome. She underwent a complete ophthalmic examination, full-field flash electroretinography and retinal imaging with spectral domain optical coherence tomography. Central vision was central, steady, and maintained. There was bilateral myopic astigmatic refractive error. Fundus exam was notable for dark foveolar pigmentation, but no obvious abnormalities of either eye. Spectral domain optical coherence tomography cross sections through the fovea revealed a normal appearing photoreceptor outer nuclear layer but loss of the interdigitation signal between the photoreceptor outer segments and the apical retinal pigment epithelium. Retinoschisis involving the inner nuclear layer of both eyes and possible ganglion cell layer thinning were also noted. There was a detectable electroretinogram with similarly reduced amplitudes of rod- (white, 0.01 cd.s.m -2 ) and cone-mediated (3 cd.s.m -2 , 30 Hz) responses. Photoreceptor outer segment abnormalities and retinoschisis may represent the earliest structural retinal change detected by spectral domain optical coherence tomography in patients with Cohen syndrome, suggesting a complex pathophysiology with primary involvement of the photoreceptor cilium and disorganization of the structural integrity of the inner retina.

X-linked Alport syndrome

DEFF Research Database (Denmark)

Jais, Jean Philippe; Knebelmann, Bertrand; Giatras, Iannis

2003-01-01

Alport syndrome (AS) is a type IV collagen hereditary disease characterized by progressive hematuric nephritis, hearing loss, and ocular changes. Mutations in the COL4A5 collagen gene are responsible for the more common X-linked dominant form of the disease characterized by much less severe disease...... in girls and women. A "European Community Alport Syndrome Concerted Action" (ECASCA) group was established to delineate the Alport syndrome phenotype in each gender and to determine genotype-phenotype correlations in a large number of families. Data concerning 329 families, 250 of them with an X...... to increase after the age of 60 yr in women. Because of the absence of genotype-phenotype correlation and the large intrafamilial phenotypic heterogeneity, early prognosis of the disease in X-linked Alport syndrome carriers remains moot. Risk factors for developing renal failure have been identified...

Bezafibrate for X-Linked Adrenoleukodystrophy

NARCIS (Netherlands)

Engelen, Marc; Tran, Luc; Ofman, Rob; Brennecke, Josephine; Moser, Ann B.; Dijkstra, Inge M. E.; Wanders, Ronald J. A.; Poll-The, Bwee Tien; Kemp, Stephan

2012-01-01

X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ABCD1 gene and is characterized by impaired beta-oxidation of very-long-chain fatty acids (VLCFA) and subsequent VLCFA accumulation in tissues. In adulthood X-ALD most commonly manifests as a gradually progressive myelopathy,

The Missing Link between Juvenile Delinquency and Pediatric Posttraumatic Stress Disorder: An Attachment Theory Lens

OpenAIRE

Amatya, Pooja L.; Barzman, Drew H.

2012-01-01

The present paper reviews pediatric posttraumatic stress disorder, emphasizing the relational basis of the disorder and highlighting the missing link between juvenile delinquency and trauma. The first part of the paper defines trauma and the diagnostic criteria for PTSD, noting child-specific features. The second part reviews the literature emphasizing the relational and attachment relevant nature of trauma. The third part explores psychological mechanisms for how attachment relations could a...

Juvenile hormone-binding proteins of Melanoplus bivittatus identified by EFDA photoaffinity labeling

International Nuclear Information System (INIS)

Winder, B.S.

1988-01-01

Proteins that bind juvenile hormone in the hemolymph and fat body of the grasshopper, Melanoplus bivittatus were identified by photoaffinity labeling with radiolabeled epoxyfarnesyl diazoacetate ( 3 H-EFDA), and were characterized by electrophoretic analysis. A protocol was developed which allowed detection of 3 H-EFDA that was covalently linked to proteins upon exposure to ultraviolet light at 254 nm. Quantification of protein-linked 3 H-EFDA by liquid scintillation spectrometry took advantage of the differential solubility of unlinked 3 H-EFDA in toluene alone, and of the protein-linked 3 H-EFDA in toluene plus the detergent, Triton X-100. Competition between EFDA and juvenile hormone (JH) for binding to JH-specific binding sites was measured by hydroxyapatite protein binding assays in the presence of radiolabeled JH or EFDA and competing non-radiolabeled hormone. The protein-linked EFDA was detected on fluorograms of SDS or nondenaturing polyacrylamide gels (PAGE), and by liquid scintillation spectrometry of membranes to which the proteins had been electrophoretically transferred. Proteins which specifically bound JH were identified by photolabeling proteins in the presence and absence of nonlabeled JH-III

X-linked hypophosphatemic rickets without 'rickets'

Energy Technology Data Exchange (ETDEWEB)

Econs, M.J.; Feussner, J.R.; Quarles, L.D. (Duke Univ. Medical Center, Durham, NC (USA). Dept. of Medicine Veterans Administration Medical Center, Durham, NC (USA). Health Services Research Field Program); Samsa, G.P. (Duke Univ. Medical Center, Durham, NC (USA). Dept. of Biometry Veterans Administration Medical Center, Durham, NC (USA). Health Services Research Field Program); Effman, E.L.; Vogler, J.B.; Martinez, S. (Duke Univ. Medical Center, Durham, NC (USA). Dept. of Radiology Veterans Administration Medical Center, Durham, NC (USA). Health Services Research Field Program); Friedman, N.E. (Duke Univ. Medical Center, Durham, NC (USA). Dept. of Pediatrics Veterans Administration Medical Center, Durham, NC (USA). Health Services Research Field Program); Drezner, M.K. (Duke Univ. Medical Center, Durham, NC (USA). Dept. of Medicine Duke Univ. Medical Center, Durham, NC (USA). Dept. of Cell Biology Veterans Administration Medical Center, Durham, NC (USA). Health Services Research F

1991-02-01

Wrist and knee radiographs from children with X-linked hypophosphatemic rickets were analyzed and compared with those from normal children and children with established rickets to assess whether radiographically apparent rickets is a consistent abnormality in X-linked hypophosphatemia. The absence or presence of rickets was correctly identified in 94.8% of wrist and knee films from normal and positive controls. In contrast, patients with X-linked hypophosphatemia exhibited rachitic abnormalities in only 5 of 11 wrist and 13 of 15 knee radiographs. Our data indicate that radiographically detectable rickets is a variable abnormality of X-linked hypophosphatemia and does not provide an unambiguous index for the diagnosis of this disease. (orig./GDG).

X-linked inhibitor of apoptosis (XIAP) deficiency

DEFF Research Database (Denmark)

Speckmann, C.; Lehmberg, K.; Albert, M.H.

2013-01-01

X-linked inhibitor of apoptosis (XIAP) deficiency caused by mutations in BIRC4 was initially described in patients with X-linked lymphoproliferative syndrome (XLP) who had no mutations in SH2D1A. In the initial reports, EBV-associated hemophagocytic lymphohistiocytosis (HLH) was the predominant...

Genetics Home Reference: X-linked sideroblastic anemia and ataxia

Science.gov (United States)

... linked sideroblastic anemia and ataxia X-linked sideroblastic anemia and ataxia Printable PDF Open All Close All ... the expand/collapse boxes. Description X-linked sideroblastic anemia and ataxia is a rare condition characterized by ...

Genetics Home Reference: alpha thalassemia X-linked intellectual disability syndrome

Science.gov (United States)

... Alpha thalassemia X-linked intellectual disability syndrome Alpha thalassemia X-linked intellectual disability syndrome Printable PDF Open ... to view the expand/collapse boxes. Description Alpha thalassemia X-linked intellectual disability syndrome is an inherited ...

X-linked congenital panhypopituitarism.

Science.gov (United States)

Schimke, R N; Spaulding, J J; Hollowell, J G

1971-05-01

Two half brothers with panhypopituitary dwarfism are reported who have the same mother and different, unrelated fathers. The subject of hereditary panhypopituitarism is reviewed briefly. It is concluded that there are at least two forms of hereditary panhypopituitary dwarfism, one of which may be X-linked.

X-linked Alport syndrome

DEFF Research Database (Denmark)

Jais, J P; Knebelmann, B; Giatras, I

2000-01-01

Alport syndrome (AS) is a type IV collagen hereditary disease characterized by the association of progressive hematuric nephritis, hearing loss, and, frequently, ocular changes. Mutations in the COL4A5 collagen gene are responsible for the more common X-linked dominant form of the disease....... Considerable allelic heterogeneity has been observed. A "European Community Alport Syndrome Concerted Action" has been established to delineate accurately the AS phenotype and to determine genotype-phenotype correlations in a large number of families. Data concerning 329 families, 250 of them with an X...

Disease: H01766 [KEGG MEDICUS

Lifescience Database Archive (English)

Full Text Available S, Parry NR, Stanga PE, Trump D ... TITLE ... X-linked retinoschisis: an update. ... JOURNAL ... J Med Genet 44:225-32 (2007) DOI:10.1136/jmg.2006.047340 ... ...e; Eye disease ... ICD-10: Q14.1 MeSH: D041441 OMIM: 312700 PMID:17172462 ... AUTHORS ... Sikkink SK, Biswas

Genetics Home Reference: X-linked intellectual disability, Siderius type

Science.gov (United States)

... Cleft Lip and Palate MalaCards: x-linked intellectual disability, siderius type March of Dimes: Cleft Lip and Cleft Palate Merck Manual Consumer Version: Intellectual Disability Orphanet: X-linked intellectual disability, Siderius type Patient ...

A Comparison of Selective Pressures in Plant X-Linked and Autosomal Genes.

Science.gov (United States)

Krasovec, Marc; Nevado, Bruno; Filatov, Dmitry A

2018-05-03

Selection is expected to work differently in autosomal and X-linked genes because of their ploidy difference and the exposure of recessive X-linked mutations to haploid selection in males. However, it is not clear whether these expectations apply to recently evolved sex chromosomes, where many genes retain functional X- and Y-linked gametologs. We took advantage of the recently evolved sex chromosomes in the plant Silene latifolia and its closely related species to compare the selective pressures between hemizygous and non-hemizygous X-linked genes as well as between X-linked genes and autosomal genes. Our analysis, based on over 1000 genes, demonstrated that, similar to animals, X-linked genes in Silene evolve significantly faster than autosomal genes—the so-called faster-X effect. Contrary to expectations, faster-X divergence was detectable only for non-hemizygous X-linked genes. Our phylogeny-based analyses of selection revealed no evidence for faster adaptation in X-linked genes compared to autosomal genes. On the other hand, partial relaxation of purifying selection was apparent on the X-chromosome compared to the autosomes, consistent with a smaller genetic diversity in S. latifolia X-linked genes (π x = 0.016; π aut = 0.023). Thus, the faster-X divergence in S. latifolia appears to be a consequence of the smaller effective population size rather than of a faster adaptive evolution on the X-chromosome. We argue that this may be a general feature of “young” sex chromosomes, where the majority of X-linked genes are not hemizygous, preventing haploid selection in heterogametic sex.

A new nonsyndromic X-linked sensorineural hearing impairment linked to Xp21.2

Energy Technology Data Exchange (ETDEWEB)

Lalwani, A.K.; Brister, J.R.; Fex, J.; Grundfast, K.M.; Pikus, A.T.; Ploplis, B.; San Agustin, T.; Skarka, H.; Wilcox, E.R. [National Institutes of Health, Bethesda, MD (United States)

1994-10-01

X-linked deafness is a rare cause of hereditary hearing impairment. We have identified a family with X-linked dominant sensorineural hearing impairment, characterized by incomplete penetrance and variable expressivity in carrier females, that is linked to the Xp21.2, which contains the Duchenne muscular dystrophy (DMD) locus. The auditory impairment in affected males was congenital, bilateral, profound, sensorineural, affecting all frequencies, and without evidence of radiographic abnormality of the temporal bone. Adult carrier females manifested bilateral, mild-to-moderate high-frequency sensorineural hearing impairment of delayed onset during adulthood. Eighteen commercially available polymorphic markers from the X chromosome, generating a 10-15-cM map, were initially used for identification of a candidate region. DXS997, located within the DMD gene, generated a two-point LOD score of 2.91 at {theta} = 0, with every carrier mother heterozygous at this locus. Recombination events at DXS992 (located within the DMD locus, 3{prime} to exon 50 of the dystrophin gene) and at DXS1068 (5{prime} to the brain promoter of the dystrophin gene) were observed. No recombination events were noted with the following markers within the DMD locus: 5{prime}DYS II, intron 44, DXS997, and intron 50. There was no clinical evidence of Duchenne or Becker muscular dystrophy in any family member. It is likely that this family represents a new locus on the X chromosome, which when mutated results in nonsyndromic sensorineural hearing loss and is distinct from the heterogeneous group of X-linked hearing losses that have been previously described. 57 refs., 6 figs., 1 tab.

X-linked Acrogigantism (X-LAG) Syndrome: Clinical Profile and Therapeutic Responses

OpenAIRE

Beckers, Albert; Lodish, Maya Beth; Trivellin, Giampaolo; Rostomyan, Liliya; Lee, Misu; Faucz, Fabio R; Yuan, Bo; Choong, Catherine S; Caberg, Jean-Hubert; Verrua, Elisa; Naves, Luciana Ansaneli; Cheetham, Tim D; Young, Jacques; Lysy, Philippe A; Petrossians, Patrick

2015-01-01

X-linked acro-gigantism (X-LAG) is a new syndrome of pituitary gigantism, caused by microduplications on chromosome Xq26.3, encompassing the gene GPR101, which is highly upregulated in pituitary tumors. We conducted this study to explore the clinical, radiological and hormonal phenotype and responses to therapy in patients with X-LAG syndrome. The study included 18 patients (13 sporadic) with X-LAG and a microduplication in chromosome Xq26.3. All sporadic cases had unique duplications and the...

Alpha thalassaemia-mental retardation, X linked

Directory of Open Access Journals (Sweden)

Gibbons Richard

2006-05-01

Full Text Available Abstract X-linked alpha thalassaemia mental retardation (ATR-X syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal. So far, 168 patients have been reported. Language is usually very limited. Seizures occur in about one third of the cases. While many patients are affectionate with their caregivers, some exhibit autistic-like behaviour. Patients present with facial hypotonia and a characteristic mouth. Genital abnormalities are observed in 80% of children and range from undescended testes to ambiguous genitalia. Alpha-thalassaemia is not always present. This syndrome is X-linked recessive and results from mutations in the ATRX gene. This gene encodes the widely expressed ATRX protein. ATRX mutations cause diverse changes in the pattern of DNA methylation at heterochromatic loci but it is not yet known whether this is responsible for the clinical phenotype. The diagnosis can be established by detection of alpha thalassaemia, identification of ATRX gene mutations, ATRX protein studies and X-inactivation studies. Genetic counselling can be offered to families. Management is multidisciplinary: young children must be carefully monitored for gastro-oesophageal reflux as it may cause death. A number of individuals with ATR-X are fit and well in their 30s and 40s.

Genetics Home Reference: X-linked thrombocytopenia

Science.gov (United States)

... Benson EM. Identification of WASP mutations in 10 Australian families with Wiskott-Aldrich syndrome and X-linked ... API Site Map Subscribe Customer Support USA.gov Copyright Privacy Accessibility FOIA Viewers & Players U.S. Department of ...

Molecular and Clinical Studies of X-linked Deafness Among Pakistani Families

OpenAIRE

Waryah, Ali M.; Ahmed, Zubair M.; Choo, Daniel I.; Sisk, Robert A.; Binder, Munir A.; Shahzad, Mohsin; Khan, Shaheen N.; Friedman, Thomas B.; Riazuddin, Sheikh; Riazuddin, Saima

2011-01-01

There are 68 sex-linked syndromes that include hearing loss as one feature and five sex-linked nonsyndromic deafness loci listed in the OMIM database. The possibility of additional such sex-linked loci was explored by ascertaining three unrelated Pakistani families (PKDF536, PKDF1132, PKDF740) segregating X-linked recessive deafness. Sequence analysis of POU3F4 (DFN3) in affected members of families PKDF536 and PKDF1132 revealed two novel nonsense mutations, p.Q136X and p.W114X, respectively....

A new resource for characterizing X-linked genes in Drosophila melanogaster: systematic coverage and subdivision of the X chromosome with nested, Y-linked duplications.

Science.gov (United States)

Cook, R Kimberley; Deal, Megan E; Deal, Jennifer A; Garton, Russell D; Brown, C Adam; Ward, Megan E; Andrade, Rachel S; Spana, Eric P; Kaufman, Thomas C; Cook, Kevin R

2010-12-01

Interchromosomal duplications are especially important for the study of X-linked genes. Males inheriting a mutation in a vital X-linked gene cannot survive unless there is a wild-type copy of the gene duplicated elsewhere in the genome. Rescuing the lethality of an X-linked mutation with a duplication allows the mutation to be used experimentally in complementation tests and other genetic crosses and it maps the mutated gene to a defined chromosomal region. Duplications can also be used to screen for dosage-dependent enhancers and suppressors of mutant phenotypes as a way to identify genes involved in the same biological process. We describe an ongoing project in Drosophila melanogaster to generate comprehensive coverage and extensive breakpoint subdivision of the X chromosome with megabase-scale X segments borne on Y chromosomes. The in vivo method involves the creation of X inversions on attached-XY chromosomes by FLP-FRT site-specific recombination technology followed by irradiation to induce large internal X deletions. The resulting chromosomes consist of the X tip, a medial X segment placed near the tip by an inversion, and a full Y. A nested set of medial duplicated segments is derived from each inversion precursor. We have constructed a set of inversions on attached-XY chromosomes that enable us to isolate nested duplicated segments from all X regions. To date, our screens have provided a minimum of 78% X coverage with duplication breakpoints spaced a median of nine genes apart. These duplication chromosomes will be valuable resources for rescuing and mapping X-linked mutations and identifying dosage-dependent modifiers of mutant phenotypes.

Genetics Home Reference: X-linked spondyloepiphyseal dysplasia tarda

Science.gov (United States)

... Educational Resources (6 links) Cincinnati Children's Hospital: Coxa Vera Disease InfoSearch: Spondyloepiphyseal dysplasia tarda X-linked Johns ... Free article on PubMed Central Savarirayan R, Thompson E, Gécz J. Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400). ...

Guillain Barré Syndrome in a Child With X-Linked Adrenoleukodystrophy

Directory of Open Access Journals (Sweden)

Ron Jacob MD

2015-10-01

Full Text Available X-Linked adrenoleukodystrophy is the most common peroxisomal disorder with different phenotypes among patients carrying the same ABCD1 mutation. There were previously reported associations of X-linked adrenoleukodystrophy with autoimmune disorders. The authors describe Guillain Barré syndrome in a child with X-linked adrenoleukodystrophy. The available evidence does not permit conclusion concerning etiological linkage between the 2 diseases, but it warrants further study.

Effects of salinity on gastric emptying time in hybrid grouper, Epinephelus fuscoguttatus x E. lanceolattus juveniles

Science.gov (United States)

Noor, Noorashikin Md.; Das, Simon Kumar; Cob, Zaidi Che; Ghaffar, Mazlan Abd.

2018-04-01

The newly developed hybrid grouper: tiger grouper (Epinephelus fuscoguttatus) × giant grouper (Epinephelus fuscoguttatus) (TG×GG), has a high resistance towards different environmental condition (eg. in euryhaline environment) due to its genetic improvement. This study aims to investigate the effects of different salinities (10, 15, 20, 25 and 30 ppt) on the gastric emptying time (GET) of the TG×GG hybrid grouper juveniles. The fish were fed with commercial pellet over a 30 days experimental period under controlled laboratory conditions. The GET was determined by X-radiographic method, using barium sulfate (BaSO4) as an inert food marker. The X-radiography images showed that the shortest GET (12 h) was observed in the 15 ppt group, whereas the longest GET (18 h) in 30 ppt group. The results suggests to culture TG×GG hybrid grouper juveniles in 15 ppt with commercial pellet diet as this salinity proliferates faster digestion process which may contribute faster growth rate of this important fish species. Overall, these findings would be useful for the betterment of TG×GG hybrid grouper aquaculture which will eventually boost up the production of this newly developed hybrid grouper species.

X-linked ichthyosis associated with psychosis and behavioral abnormalities: a case report.

Science.gov (United States)

Malik, Amna; Amer, Ahmed Bait; Salama, Mohammed; Haddad, Bander; Alrifai, Muhammad T; Balwi, Mohammed Al; Davies, William; Eyaid, Wafaa

2017-09-22

X-linked ichthyosis is a dermatological condition caused by deficiency for the enzyme steroid sulfatase. Previously, X-linked ichthyosis/steroid sulfatase deficiency has been associated with developmental and neurological phenotypes. Here, we show for the first time, that X-linked ichthyosis may be comorbid with an additional psychiatric phenotype (psychosis). We report the case of an 11-year-old Saudi Arabian boy with X-linked ichthyosis associated with psychosis, mental retardation, autism spectrum disorder, inattentive attention deficit hyperactivity disorder, and epilepsy. Genetic analysis revealed a 1.68 Mb deletion encompassing STS in 95% of cells while biochemical analysis revealed correspondingly low steroid sulfatase activity consistent with a diagnosis of X-linked ichthyosis. The psychotic symptoms could be reasonably well controlled by administration of an atypical antipsychotic. This report describes a case of comorbid X-linked ichthyosis and psychosis (most closely corresponding to early-onset schizophrenia) for the first time, and suggests that deficiency for steroid sulfatase and contiguous genes may increase vulnerability to psychosis as well as other psychological disorders.

Molecular and Clinical Studies of X-linked Deafness Among Pakistani Families

Science.gov (United States)

Waryah, Ali M.; Ahmed, Zubair M.; Choo, Daniel I.; Sisk, Robert A.; Binder, Munir A.; Shahzad, Mohsin; Khan, Shaheen N.; Friedman, Thomas B.; Riazuddin, Sheikh; Riazuddin, Saima

2011-01-01

There are 68 sex-linked syndromes that include hearing loss as one feature and five sex-linked nonsyndromic deafness loci listed in the OMIM database. The possibility of additional such sex-linked loci was explored by ascertaining three unrelated Pakistani families (PKDF536, PKDF1132, PKDF740) segregating X-linked recessive deafness. Sequence analysis of POU3F4 (DFN3) in affected members of families PKDF536 and PKDF1132 revealed two novel nonsense mutations, p.Q136X and p.W114X, respectively. Family PKDF740 is segregating congenital blindness, mild to profound progressive hearing loss that is characteristic of Norrie disease (MIM#310600). Sequence analysis of NDP among affected members of this family revealed a novel single nucleotide deletion c.49delG causing a frameshift and premature truncation (p.V17fsX1) of the encoded protein. These mutations were not found in 150 normal DNA samples. Identification of pathogenic alleles causing X-linked recessive deafness will improve molecular diagnosis, genetic counseling, and molecular epidemiology of hearing loss among Pakistanis. PMID:21633365

Molecular and clinical studies of X-linked deafness among Pakistani families.

Science.gov (United States)

Waryah, Ali M; Ahmed, Zubair M; Bhinder, Munir A; Binder, Munir A; Choo, Daniel I; Sisk, Robert A; Shahzad, Mohsin; Khan, Shaheen N; Friedman, Thomas B; Riazuddin, Sheikh; Riazuddin, Saima

2011-07-01

There are 68 sex-linked syndromes that include hearing loss as one feature and five sex-linked nonsyndromic deafness loci listed in the OMIM database. The possibility of additional such sex-linked loci was explored by ascertaining three unrelated Pakistani families (PKDF536, PKDF1132 and PKDF740) segregating X-linked recessive deafness. Sequence analysis of POU3F4 (DFN3) in affected members of families PKDF536 and PKDF1132 revealed two novel nonsense mutations, p.Q136X and p.W114X, respectively. Family PKDF740 is segregating congenital blindness, mild-to-profound progressive hearing loss that is characteristic of Norrie disease (MIM#310600). Sequence analysis of NDP among affected members of this family revealed a novel single nucleotide deletion c.49delG causing a frameshift and premature truncation (p.V17fsX1) of the encoded protein. These mutations were not found in 150 normal DNA samples. Identification of pathogenic alleles causing X-linked recessive deafness will improve molecular diagnosis, genetic counseling and molecular epidemiology of hearing loss among Pakistanis.

Possible X linked congenital mitochondrial cardiomyopathy in three families.

OpenAIRE

Orstavik, K H; Skjörten, F; Hellebostad, M; Hågå, P; Langslet, A

1993-01-01

Familial cases of childhood congestive cardiomyopathy with X linked recessive inheritance and abnormalities of heart muscle mitochondria have been previously reported. We report here three families with possible X linked congestive cardiomyopathy and specific mitochondrial abnormalities. The heart disorder presented as endocardial fibroelastosis with neonatal death in two brothers in one family, and as heart failure and death in infancy in two brothers in the other two families. In one family...

X inactivation in females with X-linked Charcot-Marie-Tooth disease.

LENUS (Irish Health Repository)

Murphy, Sinéad M

2012-07-01

X-linked Charcot-Marie-Tooth disease (CMT1X) is the second most common inherited neuropathy, caused by mutations in gap junction beta-1 (GJB1). Males have a uniformly moderately severe phenotype while females have a variable phenotype, suggested to be due to X inactivation. We aimed to assess X inactivation pattern in females with CMT1X and correlate this with phenotype using the CMT examination score to determine whether the X inactivation pattern accounted for the variable phenotype in females with CMT1X. We determined X inactivation pattern in 67 females with CMT1X and 24 controls using the androgen receptor assay. We were able to determine which X chromosome carried the GJB1 mutation in 30 females. There was no difference in X inactivation pattern between patients and controls. In addition, there was no correlation between X inactivation pattern in blood and phenotype. A possible explanation for these findings is that the X inactivation pattern in Schwann cells rather than in blood may explain the variable phenotype in females with CMT1X.

Fine mapping of dominant X-linked incompatibility alleles in Drosophila hybrids.

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Matute, Daniel R; Gavin-Smyth, Jackie

2014-04-01

Sex chromosomes have a large effect on reproductive isolation and play an important role in hybrid inviability. In Drosophila hybrids, X-linked genes have pronounced deleterious effects on fitness in male hybrids, which have only one X chromosome. Several studies have succeeded at locating and identifying recessive X-linked alleles involved in hybrid inviability. Nonetheless, the density of dominant X-linked alleles involved in interspecific hybrid viability remains largely unknown. In this report, we study the effects of a panel of small fragments of the D. melanogaster X-chromosome carried on the D. melanogaster Y-chromosome in three kinds of hybrid males: D. melanogaster/D. santomea, D. melanogaster/D. simulans and D. melanogaster/D. mauritiana. D. santomea and D. melanogaster diverged over 10 million years ago, while D. simulans (and D. mauritiana) diverged from D. melanogaster over 3 million years ago. We find that the X-chromosome from D. melanogaster carries dominant alleles that are lethal in mel/san, mel/sim, and mel/mau hybrids, and more of these alleles are revealed in the most divergent cross. We then compare these effects on hybrid viability with two D. melanogaster intraspecific crosses. Unlike the interspecific crosses, we found no X-linked alleles that cause lethality in intraspecific crosses. Our results reveal the existence of dominant alleles on the X-chromosome of D. melanogaster which cause lethality in three different interspecific hybrids. These alleles only cause inviability in hybrid males, yet have little effect in hybrid females. This suggests that X-linked elements that cause hybrid inviability in males might not do so in hybrid females due to differing sex chromosome interactions.

Screening for X-linked adrenoleukodystrophy among adult men with Addison's disease.

Science.gov (United States)

Horn, Morten A; Erichsen, Martina M; Wolff, Anette S B; Månsson, Jan-Eric; Husebye, Eystein S; Tallaksen, Chantal M E; Skjeldal, Ola H

2013-09-01

X-linked adrenoleukodystrophy is an important cause of Addison's disease in boys, but less is known about its contribution to Addison's disease in adult men. After surveying all known cases of X-linked adrenoleukodystrophy in Norway in a separate study, we aimed to look for any missed cases among the population of adult men with nonautoimmune Addison's disease. Among 153 adult men identified in a National Registry for Addison's Disease (75% of identified male cases of Addison's disease in Norway), those with negative indices for 21-hydroxylase autoantibodies were selected. Additionally, cases with low autoantibody indices (48-200) were selected. Sera from subjects included were analysed for levels of very long-chain fatty acids, which are diagnostic for X-linked adrenoleukodystrophy in men. Eighteen subjects had negative indices and 17 had low indices for 21-hydroxylase autoantibodies. None of those with low indices and only one of those with negative indices were found to have X-linked adrenoleukodystrophy; this subject had already been diagnosed because of the neurological symptoms. Cases of Addison's disease proved to be caused by X-linked adrenoleukodystrophy constitute 1·5% of all adult male cases in Norway; the proportion among nonautoimmune cases was 15%. We found X-linked adrenoleukodystrophy to be an uncommon cause of Addison's disease in adult men. However, this aetiological diagnosis has far-reaching consequences both for the patient and for his extended family. We therefore recommend that all adult men with nonautoimmune Addison's disease be analysed for levels of very long-chain fatty acids. © 2013 John Wiley & Sons Ltd.

MULTIMODAL IMAGING OF MOSAIC RETINOPATHY IN CARRIERS OF HEREDITARY X-LINKED RECESSIVE DISEASES.

Science.gov (United States)

Wu, An-Lun; Wang, Jung-Pan; Tseng, Yun-Ju; Liu, Laura; Kang, Yu-Chuan; Chen, Kuan-Jen; Chao, An-Ning; Yeh, Lung-Kun; Chen, Tun-Lu; Hwang, Yih-Shiou; Wu, Wei-Chi; Lai, Chi-Chun; Wang, Nan-Kai

2018-05-01

To investigate the clinical features in carriers of X-linked retinitis pigmentosa, X-linked ocular albinism, and choroideremia (CHM) using multimodal imaging and to assess their diagnostic value in these three mosaic retinopathies. We prospectively examined 14 carriers of 3 X-linked recessive disorders (X-linked retinitis pigmentosa, X-linked ocular albinism, and CHM). Details of abnormalities of retinal morphology were evaluated using fundus photography, fundus autofluorescence (FAF) imaging, and spectral domain optical coherence tomography. In six X-linked retinitis pigmentosa carriers, fundus appearance varied from unremarkable to the presence of tapetal-like reflex and pigmentary changes. On FAF imaging, all carriers exhibited a bright radial reflex against a dark background. By spectral domain optical coherence tomography, loss of the ellipsoid zone in the macula was observed in 3 carriers (50%). Regarding the retinal laminar architecture, 4 carriers (66.7%) showed thinning of the outer nuclear layer and a dentate appearance of the outer plexiform layer. All five X-linked ocular albinism carriers showed a characteristic mud-splatter patterned fundus, dark radial streaks against a bright background on FAF imaging, and a normal-appearing retinal structure by spectral domain optical coherence tomography imaging. Two of the 3 CHM carriers (66.7%) showed a diffuse moth-eaten appearance of the fundus, and all 3 showed irregular hyper-FAF and hypo-FAF spots throughout the affected area. In the CHM carriers, the structural changes observed by spectral domain optical coherence tomography imaging were variable. Our findings in an Asian cohort suggest that FAF imaging is a practical diagnostic test for differentiating X-linked retinitis pigmentosa, X-linked ocular albinism, and CHM carriers. Wide-field FAF is an easy and helpful adjunct to testing for the correct diagnosis and identification of lyonization in carriers of these three mosaic retinopathies.

Coats' disease and congenital retinoschisis in a single eye: a case report and DNA analysis.

Science.gov (United States)

Berinstein, D M; Hiraoka, M; Trese, M T; Shastry, B S

2001-01-01

The clinical features of Coats' disease and congenital retinoschisis (RS) are distinctly different. Therefore, finding changes consistent with Coats' disease and congenital RS in a single eye is an unusual occurrence. The following report describes two cases with a Coats' telangiectatic lesion in one region of the retina separated by normal retina and the presence of central and peripheral congenital RS. Molecular genetic analysis of the Norrie disease and RS genes failed to identify disease-causing or polymorphic mutations in either of the genes, suggesting that the above condition is clinically and genetically a different disorder. Further studies are needed to identify the genes responsible for the above disorder and associated ocular manifestations. Copyright 2001 S. Karger AG, Basel.

Genetics Home Reference: X-linked lymphoproliferative disease

Science.gov (United States)

... my area? Other Names for This Condition Duncan disease Epstein-Barr virus-induced lymphoproliferative disease in males familial fatal ... the proapoptotic SAP function in X-linked lymphoproliferative disease aggravates Epstein-Barr virus (EBV) induced mononucleosis and promotes lymphoma development. ...

Refinement of the localization of the X-linked ocular albinism gene

NARCIS (Netherlands)

Bergen, A. A.; Zijp, P.; Schuurman, E. J.; Bleeker-Wagemakers, E. M.; Apkarian, P.; van Ommen, G. J.

1993-01-01

Although physical and genetic mapping studies assigned the X-linked ocular albinism gene to Xp22.3, the exact gene order in this region is still unclear. We present additional genetic mapping data concerning X-linked ocular albinism that suggests the consensus order Xpter-STS-DXS237-KAL-(OA1,

[Prevention of retinal detachment and treatment of retinoschisis].

Science.gov (United States)

Messmer, E P

1990-01-01

The necessity for prophylactic treatment for degenerative disease in the peripheral retina cannot be evaluated merely on the basis of the ophthalmoscopic findings. Factors such as the patient's history, refraction, the status of the vitreous, and prospective future cataract extraction all have a major impact on the risk of developing retinal detachment. The latter condition can be classified in to three groups: (1) low risk (patients with no history of retinal detachment, intraocular surgery or posterior vitreous detachment, myopia less than three diopters): treatment of atrophic holes and lattice degeneration is not justified, treatment of flap tears according to the circumstances; (2) medium risk (patients with no history of retinal or posterior vitreous detachment; however, myopia of more than three diopters and/or aphakia): the treatment of lattice degeneration is not justified; treatment of breaks according to the circumstances; (3) high risk: (patients with symptoms of posterior vitreous detachment): the treatment of lattice degeneration and atrophic holes is not justified: treatment of tears is necessary; fellow eyes: the treatment of retinal breaks is necessary; treatment of lattice degeneration seems advisable in cases with bilateral symmetric findings or prior to cataract extraction. Treatment of senile retinoschisis is only justified in cases with large and centrally located holes in the outer wall or in the presence of symptomatic schisis detachment.

A family with severe X-linked arthrogryposis

NARCIS (Netherlands)

Hennekam, R. C.; Barth, P. G.; van Lookeren Campagne, W.; de Visser, M.; Dingemans, K. P.

1991-01-01

Five males are reported with severe X-linked arthrogryposis. Main findings are marked respiratory insufficiency and feeding problems, multiple contractures, deformities of chest and vertebral column, and typical facies. Most of these findings can be explained by a pronounced prenatal and postnatal

An algorithm for the diagnosis of X-linked intellectual disability in children

Directory of Open Access Journals (Sweden)

V. Yu. Voinova

2016-01-01

Full Text Available X-linked intellectual disability (XLID is a clinically and genetically heterogeneous group of hereditary diseases caused by mutations on the X chromosome, which lead to impaired intellectual development. The paper determines for the first time the proportion of X-linked diseases (6.54% in the pattern of intellectual disability in children. A system has been developed to quantify the clinical severity of fragile X mental retardation syndrome and Rett syndrome. A system has been scientifically justified to predict the clinical severity, which is based on an analysis of the impact of genetic and epigenetic factors (mutation type and location, X chromosome inactivation. The authors have determined the contribution of nonrandom X inactivation to the clinical polymorphism of various forms of XLID and established its role as an important diagnostic marker for pathology. It is shown that the study of X chromosome inactivation can identify asymptomatic female carriers of X-linked mutations to provide medical genetic counseling to families. An algorithm has been elaborated to diagnose XLID among the undifferentiated forms of mental developmental abnormalities in children. 

Genome-wide misexpression of X-linked versus autosomal genes associated with hybrid male sterility.

Science.gov (United States)

Lu, Xuemei; Shapiro, Joshua A; Ting, Chau-Ti; Li, Yan; Li, Chunyan; Xu, Jin; Huang, Huanwei; Cheng, Ya-Jen; Greenberg, Anthony J; Li, Shou-Hsien; Wu, Mao-Lien; Shen, Yang; Wu, Chung-I

2010-08-01

Postmating reproductive isolation is often manifested as hybrid male sterility, for which X-linked genes are overrepresented (the so-called large X effect). In contrast, X-linked genes are significantly under-represented among testis-expressing genes. This seeming contradiction may be germane to the X:autosome imbalance hypothesis on hybrid sterility, in which the X-linked effect is mediated mainly through the misexpression of autosomal genes. In this study, we compared gene expression in fertile and sterile males in the hybrids between two Drosophila species. These hybrid males differ only in a small region of the X chromosome containing the Ods-site homeobox (OdsH) (also known as Odysseus) locus of hybrid sterility. Of genes expressed in the testis, autosomal genes were, indeed, more likely to be misexpressed than X-linked genes under the sterilizing action of OdsH. Since this mechanism of X:autosome interaction is only associated with spermatogenesis, a connection between X:autosome imbalance and the high rate of hybrid male sterility seems plausible.

Incidence and distribution of paravascular lamellar holes and their relationship with macular retinoschisis in highly myopic eyes using spectral-domain oct.

Science.gov (United States)

Vela, José I; Sánchez, Fernando; Díaz-Cascajosa, Jesús; Mingorance, Ester; Andreu, David; Buil, José A

2016-04-01

The purpose of the study is to determine the incidence and distribution of paravascular lamellar holes (PLH) around retinal vessels in highly myopic eyes and their relationship with macular retinoschisis (MR). We examined 306 eyes of 178 patients with high myopia, performing multiple scans of the posterior pole within the retinal vascular arcades using spectral-domain OCT. Type of staphyloma was determined. PLH were divided into three groups: holes only (group 1), holes extending below vessels (group 2), and holes in an area of paravascular retinoschisis (group 3). OCT showed that 96/306 eyes (31.4 %) had PLH mainly along the infero-temporal arcade (39.9 %). Type V and IX staphylomas had a higher proportion of PLH in the infero-temporal arcade than other staphylomas. Group 3 eyes presented higher rates of myopia and staphyloma. MR was detected in 10/27 eyes (37 %) in Group 3, but only in 2/33 eyes (6.1 %) in Group 1. No MR was found in Group 2. PLH are relatively common in highly myopic eyes and mainly distributed in the inferior temporal arcade. Findings from this descriptive study suggest that distribution of PLH might be related to the type of staphyloma. Further studies are needed to evaluate the relevance of PLH in the pathogenesis of MR.

[DIAGNOSTIC VARIATIONS OF X-LINKED MUSCULAR DYSTROPHY WITH CONTRACTURES].

Science.gov (United States)

Kvirkvelia, N; Shakarishvili, R; Gugutsidze, D; Khizanishvili, N

2015-01-01

Case report with review describes X-linked muscular dystrophy with contractures in 28 years old man and his cousin. The disease revealed itself in an early stage (age 5-10), the process was progressing with apparent tendons retraction and contraction, limited movement in the areas of the neck and back of spine, atrophy of shoulder and pelvic yard and back muscles. Intellect was intact. Cardyomyopathy was exhibited. CK was normal. EMG showed classic myopathic features. Muscle biopsy showed different caliber groups of muscle fibers, growth of endo-perimesial connective tissue. Clinical manifestations together with electrophysiological and histological data suggest consistency with Rotthauwe-Mortier-Bayer X-linked muscular dystrophy.

The diagnostic usefulness of the negative electroretinogram.

Science.gov (United States)

Fuente García, C; González-López, J J; Muñoz-Negrete, F J; Rebolleda, G

2018-03-01

The definition of the negative response of the full field electroretinogram is the presence of a b-wave with less amplitude than the a-wave (b/a ratio<1) in the combined response of cones and rods. The presence of this pattern reflects an alteration in the bipolar cells, the Müller cells, or in the transmission of the stimulus from the photoreceptors to the bipolar cells, with preserved photoreceptor function. This finding can be seen bilaterally and symmetrically in different hereditary conditions, such as congenital stationary night blindness, juvenile X-linked retinoschisis, and Duchenne and Becker muscular dystrophies. On the other hand, it can also be found unilaterally (or asymmetrically) in acquired pathologies, such as some types of immuno-mediated retinitis (Birdshot retinochoroiditis), autoimmune retinopathies, cancer/melanoma associated retinopathy, or retinal toxicity. The objective of this review is to summarise the characteristics of the pathologies in which this finding can be observed, in order to highlight its usefulness in the differential diagnosis of retinal conditions. Copyright © 2017 Sociedad Española de Oftalmología. Publicado por Elsevier España, S.L.U. All rights reserved.

Health and Juvenile Delinquency: Prescriptive Policy. Analysis As a Practical Art.

Science.gov (United States)

Flentje, H. Edward; Penner, Maurice J.

A case history of the development of a new Kansas state policy on juvenile delinquency illustrates the use of policy impact analysis and suggests four principles to follow in prescriptive policy analysis. A Kansas governor's task force on juvenile delinquency found evidence linking delinquency to undetected health problems (in sight, hearing,…

[Preimplantation genetic diagnosis and monogenic inherited eye diseases].

Science.gov (United States)

Hlavatá, L; Ďuďáková, Ľ; Trková, M; Soldátová, I; Skalická, P; Kousal, B; Lišková, P

Preimplantation genetic diagnosis (PGD) is an established application of genetic testing in the context of in vitro fertilization. PGD is an alternative method to prenatal diagnosis which aims to prevent the transmission of an inherited disorder to the progeny by implanting only embryos that do not carry genetic predisposition for a particular disease. The aim of this study is to provide an overview of eye disorders for which PGD has been carried out. The European literature search focused on best practices, ethical issues, risks and results of PGD for inherited eye disorders. PGD is performed for a number of ocular disorders; a prerequisite for its application is however, the knowledge of a disease-causing mutation(s). The main advantage of this method is that the couple is not exposed to a decision of whether or not to undergo an abortion. Qualified counselling must be provided prior to the PGD in order to completely understand the risk of disability in any child conceived, consequences of disease manifestation, and advantages as well as limitations of this method. In the group of non-syndromic eye diseases and diseases in which ocular findings dominate, PGD has been performed in European countries for aniridia, choroideremia, congenital fibrosis of extraocular muscles, Leber congenital amaurosis, ocular albinism, retinitis pigmentosa, X-linked retinoschisis, Stargardt disease, blepharophimosis-ptosis-inverse epicanthus syndrome and retinoblastoma. Sexing for X-linked or mitochondrial diseases has been carried out for blue cone monochromatism, choroideremia, familial exudative vitreoretinopathy, Leber hereditary optic neuropathy, macular dystrophy (not further specified), Norrie disease, X-linked congenital stationary night blindness, X-linked retinoschisis and nystagmus (not further specified). In recent years, there has been an increase in potential to use PGD. The spectrum of diseases for this method has widened to include severe inherited eye diseases

X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy.

NARCIS (Netherlands)

Fernandez-Moreira, D.; Ugalde, C.; Smeets, R.; Rodenburg, R.J.T.; Lopez-Laso, E.; Ruiz-Falco, M.L.; Briones, P.; Martin, M.A.; Smeitink, J.A.M.; Arenas, J.

2007-01-01

OBJECTIVE: Mitochondrial complex I deficiency is the commonest diagnosed respiratory chain defect, being genetically heterogeneous. The male preponderance of previous patient cohorts suggested an X-linked underlying genetic defect. We investigated mutations in the X-chromosomal complex I structural

X-linked gene expression and X-chromosome inactivation: marsupials, mouse, and man compared.

Science.gov (United States)

VandeBerg, J L; Robinson, E S; Samollow, P B; Johnston, P G

1987-01-01

The existence of paternal X inactivation in Australian and American marsupial species suggests that this feature of X-chromosome dosage compensation is not a recent adaptation, but probably predates the evolutionary separation of the Australian and American marsupial lineages. Although it is theoretically possible that the marsupial system is one of random X inactivation with p greater than 0.99 and q less than 0.01 and dependent on parental source, no instance of random X inactivation (p = q or p not equal to q) has ever been verified in any tissue or cell type of any marsupial species. Therefore, we conclude that the most fundamental difference in X inactivation of marsupials and eutherians is whether the inactive X is the paternal one or is determined at random (with p = q in most but not all cases). The only other unequivocal difference between eutherians and marsupials is that both X chromosomes are active in mice and human oocytes, but not in kangaroo oocytes. Apparently, the inactive X is reactivated at a later meiotic stage or during early embryogenesis in kangaroos. X-chromosome inactivation takes place early in embryogenesis of eutherians and marsupials. Extraembryonic membranes of mice exhibit paternal X inactivation, whereas those of humans seem to exhibit random X inactivation with p greater than q (i.e., preferential paternal X inactivation). In general, extraembryonic membranes of marsupial exhibit paternal X inactivation, but the Gpd locus is active on both X chromosomes in at least some cells of kangaroo yolk sac. It is difficult to draw any general conclusion because of major differences in embryogeny of mice, humans, and marsupials, and uncertainties in interpreting the data from humans. Other differences between marsupials and eutherians in patterns of X-linked gene expression and X-chromosome inactivation seem to be quantitative rather than qualitative. Partial expression of some genes on the inactive X is characteristic of marsupials, with

X-linked ichthyosis along with epidermolysis bullosa

Directory of Open Access Journals (Sweden)

Shambulingappa Pallagatti

2012-01-01

Full Text Available Ichthyoses are a heterogenous group of hereditary keratinization disorders that share in common the accumulation & shedding of large amounts of hyperkeratotic epidermis.Early reports of ichthyosis in the Indian and Chinese literature date back to several hundred years. X-linked recessive ichthyosis (XLI is a common disorder of keratinization and affects males who inherit an X-chromosome having a steroid sulphatase genetic mutation.In the present communication we report a case of XLI and dystrophic epidermolysis bullosa in the same patient. To the best of our knowledge it has been reported only once before.

Preimplantation genetic diagnosis of X-linked diseases examined by indirect linkage analysis.

Science.gov (United States)

Borgulova, I; Putzova, M; Soldatova, I; Krautova, L; Pecnova, L; Mika, J; Kren, R; Potuznikova, P; Stejskal, D

2015-01-01

Many centers of assisted reproduction in the Czech Republic offer preimplantation genetic diagnosis with fluorescent in situ hybridization (FISH) to couples requiring preimplantation genetic diagnosis (PGD) of X-linked diseases. However, this process results in discarding all male embryos and is not able to distinguish a carrier or healthy female embryo in X-linked recessive disorders. The main aim of this study was to summarize a six-year period of PGD of X-linked monogenic diseases using indirect linkage analysis. We wanted to accentuate the advantage indirect analysis of PGD using multiple displacement amplification (MDA) followed by short tandem repeat (STR) analysis. We present forty-six PGD cycles, including pre-case haplotyping (PGH) panel, for fifteen X-linked diseases. Embryo transfer was made thirty-eight times and gravidity was confirmed in thirteen female probands with a success rate of pregnancy calculated at 42 %. PGD procedure using MDA amplification followed by STR analysis provides help in identifying genetic defects within embryos prior to implantation. The reliability of the method was also supported by high pregnancy rate compared to other publications, which commonly achieved a 30-35 % success rate (Tab. 2, Fig. 1, Ref. 33).

X-linked hydrocephalus : A novel missense mutation in the L1CAM gene

NARCIS (Netherlands)

Sztriha, L; Vos, YJ; Verlind, E; Johansen, J; Berg, B

2002-01-01

X-linked hydrocephalus is associated with mutations in the L1 neuronal cell adhesion molecule gene. L1 protein plays a key role in neurite outgrowth, axonal guidance, and pathfinding during the development of the nervous system. A male is described with X-linked hydrocephalus who had multiple small

Paternal inheritance of classic X-linked bilateral periventricular nodular heterotopia.

Science.gov (United States)

Kasper, Burkhard S; Kurzbuch, Katrin; Chang, Bernard S; Pauli, Elisabeth; Hamer, Hajo M; Winkler, Jürgen; Hehr, Ute

2013-06-01

Periventricular nodular heterotopia (PNH) is a developmental disorder of the central nervous system, characterized by heterotopic nodules of gray matter resulting from disturbed neuronal migration. The most common form of bilateral PNH is X-linked dominant inherited, caused by mutations in the Filamin A gene (FLNA) and associated with a wide variety of other clinical findings including congenital heart disease. The typical patient with FLNA-associated PNH is female and presents with difficult to treat seizures. In contrast, hemizygous FLNA loss of function mutations in males are reported to be perinatally lethal. In X-linked dominant traits like FLNA-associated PNH the causal mutation is commonly inherited from the mother. Here, we present an exceptional family with paternal transmission of classic bilateral FLNA-associated PNH from a mildly affected father with somatic and germline mosaicism for a c.5686G>A FLNA splice mutation to both daughters with strikingly variable clinical manifestation and PNH extent in cerebral MR imaging. Our observations emphasize the importance to consider in genetic counseling and risk assessment the rare genetic constellation of paternal transmission for families with X-linked dominant inherited FLNA-associated PNH. Copyright © 2013 Wiley Periodicals, Inc.

Editorial: X-chromosome-linked Kallmann's syndrome: Pathology at the molecular level

Energy Technology Data Exchange (ETDEWEB)

Prager, D.; Braunstein, G.D. (Cedars-Sinai Medical Center, Los Angeles, CA (United States))

1993-04-01

Kallmann's syndrome or olfactogenital dysplasia refers to a disorder characterized by hypogonadotropic hypogonadism and anosmia or hyposmia which can occur sporadically or in a familial setting. Originally described in 1856, the first familial cases were reported by Kallmann et al., in 1944. Based on segregation analysis of multiple families, three modes of transmission have been documented: X-linked, autosomal dominant with variable penetrance, and autosomal recessive. Kallmann's syndrome occurs in less than 1 in 10,000 male births, with a 5-fold excess of affected males to females, suggesting that the X-linked form is the most frequent. By genetic linkage analysis the X-linked form of Kallmann's syndrome was localized to Xp22.3. This was confirmed by the description of patients with contiguous gene syndromes due to deletions of various portions of the distal short arm of the X-chromosome. Such patients present with complex phenotypes characterized by a combination of Kallmann's syndrome with X-linked icthyosis due to steroid sulfatase deficiency, chondrodysplasia punctata, short stature, and mental retardation. DNA analysis has identified and mapped the genes responsible for these disorders. 10 refs., 1 fig., 1 tab.

X-linked adrenoleukodystrophy in heterozygous female patients: women are not just carriers

Directory of Open Access Journals (Sweden)

Charles Marques Lourenço

2012-07-01

Full Text Available X-linked adrenoleukodystrophy (X-ALD is a recessive X-linked disorder associated with marked phenotypic variability. Female carriers are commonly thought to be normal or only mildly affected, but their disease still needs to be better described and systematized. OBJECTIVES: To review and systematize the clinical features of heterozygous women followed in a Neurogenetics Clinic. METHODS: We reviewed the clinical, biochemical, and neuroradiological data of all women known to have X-ADL. RESULTS: The nine women identified were classified into three groups: with severe and aggressive diseases; with slowly progressive, spastic paraplegia; and with mildly decreased vibratory sensation, brisk reflexes, and no complaints. Many of these women did not have a known family history of X-ALD. CONCLUSIONS: Heterozygous women with X-ADL have a wide spectrum of clinical manifestations, ranging from mild to severe phenotypes.

[Molecular genetics of pigmentary retinopathies: identification of mutations in CHM, RDS, RHO, RPE65, USH2A and XLRS1 genes].

Science.gov (United States)

Hamel, C P; Griffoin, J M; Bazalgette, C; Lasquellec, L; Duval, P A; Bareil, C; Beaufrère, L; Bonnet, S; Eliaou, C; Marlhens, F; Schmitt-Bernard, C F; Tuffery, S; Claustres, M; Arnaud, B

2000-12-01

To evaluate the occurrence and inheritance of various types of pigmentary retinopathy in patients followed at the outpatient clinic in the university hospital, Montpellier, France. To characterize genes and mutations causing these conditions. Ophthalmic examination and various visual tests were performed. Mutations were sought from genomic DNA by PCR amplification of exons associated with single-strand conformation analysis and/or direct sequencing. Among 315 patients over an 8-year period, cases of retinitis pigmentosa (63.2%), Usher's syndrome (10.2%), Stargardt's disease (5.4%), choroideremia (3.2%), Leber's congenital amaurosis (3.2%), congenital stationary night blindness (2.9%), cone dystrophy (2.5%), dominant optic atrophy (1.9%), X-linked juvenile retinoschisis (1.6%), Best's disease (1.6%), and others (4.3%) were diagnosed. In retinitis pigmentosa, inheritance could be determined in 54.2% of the cases including dominant autosomic (26.6%), recessive autosomic (22.6%), and X-linked cases (5%) while it could not be confirmed in 45.7% of the cases (simplex cases in the majority). For the 6 examined genes, mutations were found in 22 out of 182 propositus (12.1%). Analysis of phenotype-genotype correlations indicates that in retinitis pigmentosa, RDS is more frequently associated with macular involvement and retinal flecks, RHO with regional disease, and RPE65 with the great severity of the disease with some cases of Leber's congenital amaurosis. Identification of genes may help in diagnosis and in genetic counseling, especially in simplex cases with retinitis pigmentosa. In this latter condition, molecular diagnosis will be necessary to rationalize future treatments.

Pyoderma Gangrenosum–Like Ulcer in a Patient With X-Linked Agammaglobulinemia

Science.gov (United States)

Murray, Patrick R.; Jain, Ashish; Uzel, Gulbu; Ranken, Raymond; Ivy, Cristina; Blyn, Lawrence B.; Ecker, David J.; Sampath, Rangarajan; Lee, Chyi-Chia Richard; Turner, Maria L.

2011-01-01

Background Pyoderma gangrenosum–like ulcers and cellulitis of the lower extremities associated with recurrent fevers in patients with X-linked (Bruton) agammaglobulinemia have been reported to be caused by Helicobacter bilis (formerly classified as Flexispira rappini and then Helicobacter strain flexispira taxon 8). Consistent themes in these reports are the difficulty in recovering this organism in blood and wound cultures and in maintaining isolates in vitro. We confirmed the presence of this organism in a patient’s culture by using a novel application of gene amplification polymerase chain reaction and electrospray ionization time-of-flight mass spectrometry. Observation An adolescent boy with X-linked agammaglobulinemia presented with indurated plaques and a chronic leg ulcer whose origin was strongly suspected to be an H bilis organism. Histologic analysis demonstrated positive Warthin-Starry staining of curvilinear rods, which grew in culture but failed to grow when sub-cultured. They could not be identified by conventional techniques. A combination of gene amplification by polymerase chain reaction and electrospray ionization time-of-flight mass spectrometry confirmed the identity of this organism. Conclusions This novel technology was useful in the identification of a difficult-to-grow Helicobacter organism, the cause of pyoderma gangrenosum–like leg ulcers in patients with X-linked agammaglobulinemia. Correct identification of this organism as the cause of pyoderma gangrenosum–like ulcers in patients with X-linked agammaglobulinemia is of great importance for the early initiation of appropriate and curative antibiotic therapy. PMID:20479300

Inherited Retinal Degenerative Disease Registry

Science.gov (United States)

2017-09-13

Eye Diseases Hereditary; Retinal Disease; Achromatopsia; Bardet-Biedl Syndrome; Bassen-Kornzweig Syndrome; Batten Disease; Best Disease; Choroidal Dystrophy; Choroideremia; Cone Dystrophy; Cone-Rod Dystrophy; Congenital Stationary Night Blindness; Enhanced S-Cone Syndrome; Fundus Albipunctatus; Goldmann-Favre Syndrome; Gyrate Atrophy; Juvenile Macular Degeneration; Kearns-Sayre Syndrome; Leber Congenital Amaurosis; Refsum Syndrome; Retinitis Pigmentosa; Retinitis Punctata Albescens; Retinoschisis; Rod-Cone Dystrophy; Rod Dystrophy; Rod Monochromacy; Stargardt Disease; Usher Syndrome

X-ray-mediated cross linking of protein and DNA

International Nuclear Information System (INIS)

Minsky, B.D.; Braun, A.

1977-01-01

Using a simple filter assay for the binding of BSA or lysozyme to DNA, two mechanisms of x-ray-mediated cross linking are shown to occur. One, a fast reaction, appears to involve a radical intermediate, is inhibited by high pH and salt, and seems to be enhanced by deoxygenation. The second mechanism, a slow time-dependent component, differs from the fast reaction in its stimulation by histidine, its inhibition by catalase, and the lack of an oxygen effect. Separate irradiation of DNA or water does not lead to cross linking. However, separate irradiation of protein leads to cross linking which proceeds with slow-component kinetics

Dynamic Copy Number Evolution of X- and Y-Linked Ampliconic Genes in Human Populations

DEFF Research Database (Denmark)

Lucotte, Elise A; Skov, Laurits; Jensen, Jacob Malte

2018-01-01

we explore the evolution of human X- and Y-linked ampliconic genes by investigating copy number variation (CNV) and coding variation between populations using the Simons Genome Diversity Project. We develop a method to assess CNVs using the read-depth on modified X and Y chromosome targets containing...... related Y haplogroups, that diversified less than 50,000 years ago. Moreover, X and Y-linked ampliconic genes seem to have a faster amplification dynamic than autosomal multicopy genes. Looking at expression data from another study, we also find that XY-linked ampliconic genes with extensive copy number...

X-linked creatine transporter deficiency: clinical aspects and pathophysiology

NARCIS (Netherlands)

van de Kamp, J.M.; Mancini, G.M.; Salomons, G.S.

2014-01-01

Creatine transporter deficiency was discovered in 2001 as an X-linked cause of intellectual disability characterized by cerebral creatine deficiency. This review describes the current knowledge regarding creatine metabolism, the creatine transporter and the clinical aspects of creatine transporter

Genetics Home Reference: X-linked congenital stationary night blindness

Science.gov (United States)

... collapse boxes. Description X-linked congenital stationary night blindness is a disorder of the retina , which is the specialized tissue at the back of the eye that detects light and color. People with this condition typically have difficulty seeing ...

Severe X-linked chondrodysplasia punctata in nine new female fetuses.

Science.gov (United States)

Lefebvre, Mathilde; Dufernez, Fabienne; Bruel, Ange-Line; Gonzales, Marie; Aral, Bernard; Saint-Onge, Judith; Gigot, Nadège; Desir, Julie; Daelemans, Caroline; Jossic, Frédérique; Schmitt, Sébastien; Mangione, Raphaele; Pelluard, Fanny; Vincent-Delorme, Catherine; Labaune, Jean-Marc; Bigi, Nicole; D'Olne, Dominique; Delezoide, Anne-Lise; Toutain, Annick; Blesson, Sophie; Cormier-Daire, Valérie; Thevenon, Julien; El Chehadeh, Salima; Masurel-Paulet, Alice; Joyé, Nicole; Vibert-Guigue, Claude; Rigonnot, Luc; Rousseau, Thierry; Vabres, Pierre; Hervé, Philippe; Lamazière, Antonin; Rivière, Jean-Baptiste; Faivre, Laurence; Laurent, Nicole; Thauvin-Robinet, Christel

2015-07-01

Conradi-Hünermann-Happle [X-linked dominant chondrodysplasia punctata 2 (CDPX2)] syndrome is a rare X-linked dominant skeletal dysplasia usually lethal in men while affected women show wide clinical heterogeneity. Different EBP mutations have been reported. Severe female cases have rarely been reported, with only six antenatal presentations. To better characterize the phenotype in female fetuses, we included nine antenatally diagnosed cases of women with EBP mutations. All cases were de novo except for two fetuses with an affected mother and one case of germinal mosaicism. The mean age at diagnosis was 22 weeks of gestation. The ultrasound features mainly included bone abnormalities: shortening (8/9 cases) and bowing of the long bones (5/9), punctuate epiphysis (7/9) and an irregular aspect of the spine (5/9). Postnatal X-rays and examination showed ichthyosis (8/9) and epiphyseal stippling (9/9), with frequent asymmetric short and bowed long bones. The X-inactivation pattern of the familial case revealed skewed X-inactivation in the mildly symptomatic mother and random X-inactivation in the severe fetal case. Differently affected skin samples of the same fetus revealed different patterns of X-inactivation. Prenatal detection of asymmetric shortening and bowing of the long bones and cartilage stippling should raise the possibility of CPDX2 in female fetuses, especially because the majority of such cases involve de novo mutations. © 2015 John Wiley & Sons, Ltd.

Juvenile angiofibroma

Science.gov (United States)

Nasal tumor; Angiofibroma - juvenile; Benign nasal tumor; Juvenile nasal angiofibroma; JNA ... Juvenile angiofibroma is not very common. It is most often found in adolescent boys. The tumor contains many blood ...

Genetics Home Reference: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia

Science.gov (United States)

... Conditions XMEN X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia Printable PDF Open All Close ... boxes. Description X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia (typically known by the acronym ...

X-linked cataract and Nance-Horan syndrome are allelic disorders.

Science.gov (United States)

Coccia, Margherita; Brooks, Simon P; Webb, Tom R; Christodoulou, Katja; Wozniak, Izabella O; Murday, Victoria; Balicki, Martha; Yee, Harris A; Wangensteen, Teresia; Riise, Ruth; Saggar, Anand K; Park, Soo-Mi; Kanuga, Naheed; Francis, Peter J; Maher, Eamonn R; Moore, Anthony T; Russell-Eggitt, Isabelle M; Hardcastle, Alison J

2009-07-15

Nance-Horan syndrome (NHS) is an X-linked developmental disorder characterized by congenital cataract, dental anomalies, facial dysmorphism and, in some cases, mental retardation. Protein truncation mutations in a novel gene (NHS) have been identified in patients with this syndrome. We previously mapped X-linked congenital cataract (CXN) in one family to an interval on chromosome Xp22.13 which encompasses the NHS locus; however, no mutations were identified in the NHS gene. In this study, we show that NHS and X-linked cataract are allelic diseases. Two CXN families, which were negative for mutations in the NHS gene, were further analysed using array comparative genomic hybridization. CXN was found to be caused by novel copy number variations: a complex duplication-triplication re-arrangement and an intragenic deletion, predicted to result in altered transcriptional regulation of the NHS gene. Furthermore, we also describe the clinical and molecular analysis of seven families diagnosed with NHS, identifying four novel protein truncation mutations and a novel large deletion encompassing the majority of the NHS gene, all leading to no functional protein. We therefore show that different mechanisms, aberrant transcription of the NHS gene or no functional NHS protein, lead to different diseases. Our data highlight the importance of copy number variation and non-recurrent re-arrangements leading to different severity of disease and describe the potential mechanisms involved.

Genetic localization and phenotypic expression of X-linked cataract (Xcat) in Mus musculus.

Science.gov (United States)

Favor, J; Pretsch, W

1990-01-01

Linkage data relative to the markers tabby and glucose-6-phosphate dehydrogenase are presented to locate X-linked cataract (Xcat) in the distal portion of the mouse X-chromosome between jimpy and hypophosphatemia. The human X-linked cataract-dental syndrome, Nance-Horan Syndrome, also maps closely to human hypophosphatemia and would suggest homology between mouse Xcat and human Nance-Horan Syndrome genes. In hemizygous males and homozygous females penetrance is complete with only slight variation in the degree of expression. Phenotypic expression in Xcat heterozygous females ranges from totally clear to totally opaque lenses. The phenotypic expression between the two lenses of a heterozygous individual could also vary between totally clear and totally opaque lenses. However, a correlation in the degree of expression between the eyes of an individual was observed. A variegated pattern of lens opacity was evident in female heterozygotes. Based on these observations, the site of gene action for the Xcat locus is suggested to be endogenous to the lens cells and the precursor cell population of the lens is concluded to be small. The identification of an X-linked cataract locus is an important contribution to the estimate of the number of mutable loci resulting in cataract, an estimate required so that dominant cataract mutagenesis results may be expressed on a per locus basis. The Xcat mutation may be a useful marker for a distal region of the mouse X-chromosome which is relatively sparsely marked and the X-linked cataract mutation may be employed in gene expression and lens development studies.

An X-linked homologue of the autosomal inprinted gene ZNF127 escapes X inactivation

Energy Technology Data Exchange (ETDEWEB)

Longstreet, M.; Nicholls, R.D.; Willard, H.F. [Case Western Reserve Univ., Cleveland, OH (United States)] [and others

1994-09-01

The ZNF127 gene has been shown to be subject to parental imprinting in both humans and the mouse and maps to within the Prader-Willi/Angelman Syndrome critical region on chromosome 15. We have cloned two X-linked related loci, one of which, ZNFXp is a transcribed gene while the other, ZNFXq, is an untranscribed pseudogene. ZNFXp is 83.6% identical to ZNFXq and 65.4% identical to ZNF127 over 1.4 kb of open reading frame they share in common, Like ZNF127, the predicted protein sequence of ZNFXp contains a C{sub 3}HC{sub 4} zinc finger domain and C{sub 3}H zinc finger-like motifs. Whereas ZNF127 has three C{sub 3}H motifs, ZNFXp has four. A strong CpG island is located within 1 kb 5{prime} of the predicted amino terminus of ZNFXp. Expression of ZNFXp has been detected from mouse/human somatic cell hybrids containing either an active (n=2) or an inactive (n=4) chromosome, and thus escapes X inactivation. Probes made from the 3{prime} UTR of ZNFXp detect a number of related loci in both human and murine DNA, none of which is the ZNF127 locus on chromosome 15. None of the detectable murine bands shows dosage differences between males and females as would be expected for X-linked loci. This raises the possibility that ZNFXp inserted into the human X chromosome after its divergence from a common ancestor with the murine X. We have mapped ZNFXp to Xp11.4 by Southern blotting and PCR of hybrid DNAs and by fluorescence in situ hybridization (FISH). ZNFXq maps within the X Inactivation Center (XIC) region on Xq13.2, approximately 300 kb distal to the XIST gene. We find it intriguing, and perhaps significant, that two members of this gene family are subject to epigenetic regulation -- one autosomal imprinting, and the other escape from X inactivation. These results could imply an evolutionary and mechanistic relationship between these two processes.

Animal Abuse and Youth Violence. Juvenile Justice Bulletin.

Science.gov (United States)

Ascione, Frank R.

The forms of abuse that animals are subjected to are similar to the forms of abuse children experience, such as physical abuse, serious neglect, and psychological abuse. This document describes psychiatric, psychological, and criminal research linking animal abuse to violence perpetrated by juveniles and adults. Particular attention is given to…

The electrocorticograms of the aged mouse x-irradiated at juvenile or young adult

International Nuclear Information System (INIS)

Minamisawa, Takeru; Sasaki, Shunsaku.

1984-01-01

The electrocorticograms (ECoGs) of the (C57BL/6 x C3H)F 1 mice irradiated at juvenile or young adult were studied when they attained the age of 24-26 months. One group of mice was irradiated 35 days post partum (35-DPP) and another 105 days (105-DPP). All the animals were irradiated with 300 R of X-rays to whole body. The ECoGs were recorded from the freely moving animals with the permanently implanted electrodes fixed over the visual cortical surface. The resulted ECoGs were divided into 3 patterns: wakefulness (W), slow wave sleep (SWS), and paradoxical sleep (PS). Six parameters of the 3 patterns were compared among the 2 irradiated groups and the non-irradiated control group. The mean SWS- and PS-cycle times, and mean SWS length were significantly longer in the 35-DPP group than in the control group. Changes in the ECoGs were less profound in the 105-DPP group than those in the 35-DPP group: only a significant change due to irradiation at 105-DPP was a decrease in the ratio of the total PS time to the total sleep time (TST = total SWS time + total PS time). There was no difference in the body weight and brain weight among the 2 irradiated groups and the control group. (author)

Cochlear implantation in X-linked deafness - How to manage the surgical challenges.

Science.gov (United States)

Saeed, Haroon; Powell, Harry R F; Saeed, Shakeel R

2016-07-01

In children with X-linked deafness, cochlear malformations challenge the implant surgeon to avoid electrode insertion into the internal auditory meatus and prevent a continuous cerebrospinal fluid (CSF) leak. We describe our experience of cochlear implantation (CI) in two children with profound hearing loss secondary to X-linked deafness, highlighting safer operative techniques to avoid potential complications. Descriptive cases of two children with X-linked deafness (patient 1 and patient 2) undergoing CI. Peri-operative imaging and work-up to surgery are discussed. Specific operative considerations, post-operative complications and subsequent audiological performance are highlighted. In each case, intra-operative fluoroscopic imaging ensured intra-cochlear insertion of electrodes. Expected CSF gusher was seen in each case which was initially controlled by packing around the cochleostomy and array with temporalis muscle and fascia. Patient 1 developed post-operative meningitis secondary to continuous CSF leak. We avoided further significant CSF leak by planning staged procedures for patient 2, with obliteration of the middle ear cleft and external ear canal (EAC) at the time of implantation. In both patients, bilateral implantation successfully provided hearing thresholds of less than 35 dB in both ears at routine follow up. When planning for CI in children with radiological features of X-linked deafness, intra-operative imaging should be utilized to ensure correct electrode positioning. Traditional methods of stopping a CSF gusher may not suffice. We therefore encourage additional surgical obliteration of the middle ear space and EAC to avoid persistent CSF leak and its associated complications.

X linked exudative vitreoretinopathy: clinical features and genetic linkage analysis.

Science.gov (United States)

Fullwood, P; Jones, J; Bundey, S; Dudgeon, J; Fielder, A R; Kilpatrick, M W

1993-03-01

A four generation family in which familial exudative vitreoretinopathy is inherited as an X linked condition is described. Essentially the condition is one of abnormal vascularisation and signs at birth are those of a retinopathy superficially resembling retinopathy of prematurity, retinal folds, or, in advanced cases, enophthalmos or even phthisis. Prognosis depends on the progression of the retinal changes. The family members, including seven affected males and five obligate carrier females, have been types for 20 DNA markers, and linkage analysis suggests a gene locus either at Xq21.3 or at Xp11. As the latter region includes the locus for the gene for Norrie disease, it is possible that this and X linked vitreoretinopathy are allelic. We can further speculate that the differences in severity of the clinical manifestations are dependent only upon the timing of the insult.

A family with X-linked anophthalmia: exclusion of SOX3 as a candidate gene.

Science.gov (United States)

Slavotinek, Anne; Lee, Stephen S; Hamilton, Steven P

2005-10-01

We report on a four-generation family with X-linked anophthalmia in four affected males and show that this family has LOD scores consistent with linkage to Xq27, the third family reported to be linked to the ANOP1 locus. We sequenced the SOX3 gene at Xq27 as a candidate gene for the X-linked anophthalmia based on the high homology of this gene to SOX2, a gene previously mutated in bilateral anophthlamia. However, no amino acid sequence alterations were identified in SOX3. We have improved the definition of the phenotype in males with anophthalmia linked to the ANOP1 locus, as microcephaly, ocular colobomas, and severe renal malformations have not been described in families linked to ANOP1. (c) 2005 Wiley-Liss, Inc.

X-linked Acrogigantism (X-LAG) Syndrome: Clinical Profile and Therapeutic Responses

Science.gov (United States)

Beckers, Albert; Lodish, Maya Beth; Trivellin, Giampaolo; Rostomyan, Liliya; Lee, Misu; Faucz, Fabio R; Yuan, Bo; Choong, Catherine S; Caberg, Jean-Hubert; Verrua, Elisa; Naves, Luciana Ansaneli; Cheetham, Tim D; Young, Jacques; Lysy, Philippe A; Petrossians, Patrick; Cotterill, Andrew; Shah, Nalini Samir; Metzger, Daniel; Castermans, Emilie; Ambrosio, Maria Rosaria; Villa, Chiara; Strebkova, Natalia; Mazerkina, Nadia; Gaillard, Stéphan; Barra, Gustavo Barcelos; Casulari, Luis Augusto; Neggers, Sebastian J.; Salvatori, Roberto; Jaffrain-Rea, Marie-Lise; Zacharin, Margaret; Santamaria, Beatriz Lecumberri; Zacharieva, Sabina; Lim, Ee Mun; Mantovani, Giovanna; Zatelli, Maria Chaira; Collins, Michael T; Bonneville, Jean-François; Quezado, Martha; Chittiboina, Prashant; Oldfield, Edward H.; Bours, Vincent; Liu, Pengfei; De Herder, Wouter; Pellegata, Natalia; Lupski, James R.; Daly, Adrian F.; Stratakis, Constantine A.

2015-01-01

X-linked acro-gigantism (X-LAG) is a new syndrome of pituitary gigantism, caused by microduplications on chromosome Xq26.3, encompassing the gene GPR101, which is highly upregulated in pituitary tumors. We conducted this study to explore the clinical, radiological and hormonal phenotype and responses to therapy in patients with X-LAG syndrome. The study included 18 patients (13 sporadic) with X-LAG and a microduplication in chromosome Xq26.3. All sporadic cases had unique duplications and the inheritance pattern in 2 families was dominant with all Xq26.3 duplication carriers being affected. Patients began to grow rapidly as early as 2–3 months of age (median 12 months). At diagnosis (median delay 27 months), patients had a median height and weight SDS score of >+3.9 SDS. Apart from the increased overall body size, the children had acromegalic symptoms including acral enlargement and facial coarsening. More than a third of cases had increased appetite. Patients had marked hypersecretion of GH/IGF-1 and prolactin, usually due to a pituitary macroadenoma or hyperplasia. Primary neurosurgical control was achieved with extensive anterior pituitary resection but postoperative hypopituitarism was frequent. Control with somatostatin analogs was not readily achieved despite moderate to high somatostatin receptor subtype-2 expression in tumor tissue. Postoperative adjuvant pegvisomant achieved control of IGF-1 all 5 cases in which it was employed. X-LAG is a new infant-onset gigantism syndrome that has a severe clinical phenotype leading to challenging disease management. PMID:25712922

The Juvenile Hafnium Isotope Signal as a Record of Supercontinent Cycles

Science.gov (United States)

Gardiner, Nicholas J.; Kirkland, Christopher L.; van Kranendonk, Martin J.

2016-12-01

Hf isotope ratios measured in igneous zircon are controlled by magmatic source, which may be linked to tectonic setting. Over the 200-500 Myr periodicity of the supercontinent cycle - the principal geological phenomenon controlling prevailing global tectonic style - juvenile Hf signals, i.e. most radiogenic, are typically measured in zircon from granites formed in arc settings (crustal growth), and evolved zircon Hf signals in granites formed in continent-collision settings (crustal reworking). Interrogations of Hf datasets for excursions related to Earth events commonly use the median value, however this may be equivocal due to magma mixing. The most juvenile part of the Hf signal is less influenced by crustal in-mixing, and arguably a more sensitive archive of Earth’s geodynamic state. We analyze the global Hf dataset for this juvenile signal, statistically correlating supercontinent amalgamation intervals with evolved Hf episodes, and breakup leading to re-assembly with juvenile Hf episodes. The juvenile Hf signal is more sensitive to Pangaea and Rodinia assembly, its amplitude increasing with successive cycles to a maximum with Gondwana assembly which may reflect enhanced subduction-erosion. We demonstrate that the juvenile Hf signal carries important information on prevailing global magmatic style, and thus tectonic processes.

A heterozygous mutation in RPGR associated with X-linked retinitis pigmentosa in a patient with Turner syndrome mosaicism (45,X/46,XX).

Science.gov (United States)

Zhou, Qi; Yao, Fengxia; Wang, Feng; Li, Hui; Chen, Rui; Sui, Ruifang

2018-01-01

Turner syndrome with retinitis pigmentosa (RP) is rare, with only three cases reported based on clinical examination alone. We summarized the 4-year follow-up and molecular findings in a 28-year-old patient with Turner syndrome and the typical features of short stature and neck webbing, who also had X-linked RP. Her main complaints were night blindness and progressive loss of vision since the age of 9 years. Ophthalmologic examination, optical coherent tomographic imaging, and visual electrophysiology tests showed classic manifestations of RP. The karyotype of peripheral blood showed mosaicism (45,X [72%]/46,XX[28%]). A novel heterozygous frameshift mutation (c.2403_2406delAGAG, p.T801fsX812) in the RP GTPase regulator (RPGR) gene was detected using next generation sequencing and validated by Sanger sequencing. We believe that this is the first report of X-linked RP in a patient with Turner syndrome associated with mosaicism, and an RPGR heterozygous mutation. We hypothesize that X-linked RP in this woman is not related to Turner syndrome, but may be a manifestation of the lack of a normal paternal X chromosome with intact but mutated RPGR. © 2017 Wiley Periodicals, Inc.

X-linked inhibitor of apoptosis regulates T cell effector function

DEFF Research Database (Denmark)

Zehntner, Simone P; Bourbonnière, Lyne; Moore, Craig S

2007-01-01

To understand how the balance between pro- and anti-apoptotic signals influences effector function in the immune system, we studied the X-linked inhibitor of apoptosis (XIAP), an endogenous regulator of cellular apoptosis. Real-time PCR showed increased XIAP expression in blood of mice with exper......To understand how the balance between pro- and anti-apoptotic signals influences effector function in the immune system, we studied the X-linked inhibitor of apoptosis (XIAP), an endogenous regulator of cellular apoptosis. Real-time PCR showed increased XIAP expression in blood of mice...... dramatically reduced within the CNS. Flow cytometry showed an 88-93% reduction in T cells. The proportion of TUNEL(+) apoptotic CD4(+) T cells in the CNS was increased from Neurons...... and oligodendrocytes were not affected; neither did apoptosis increase in liver, where XIAP knockdown also occurred. ASO-XIAP increased susceptibility of T cells to activation-induced apoptosis in vitro. Our results identify XIAP as a critical controller of apoptotic susceptibility of effector T cell function...

X-Linked and Autosomal Recessive Alport Syndrome

DEFF Research Database (Denmark)

Savige, Judith; Storey, Helen; Il Cheong, Hae

2016-01-01

Alport syndrome results from mutations in the COL4A5 (X-linked) or COL4A3/COL4A4 (recessive) genes. This study examined 754 previously- unpublished variants in these genes from individuals referred for genetic testing in 12 accredited diagnostic laboratories worldwide, in addition to all published...... COL4A5, COL4A3 and COL4A4 variants in the LOVD databases. It also determined genotype-phenotype correlations for variants where clinical data were available. Individuals were referred for genetic testing where Alport syndrome was suspected clinically or on biopsy (renal failure, hearing loss...

A three-year-old boy with X-linked adrenoleukodystrophy and congenital pulmonary adenomatoid malformation: a case report

Directory of Open Access Journals (Sweden)

Cakan Nedim

2009-12-01

Full Text Available Abstract Introduction X-linked adrenoleukodystrophy leads to demyelination of the nervous system, adrenal insufficiency, and accumulation of long-chain fatty acids. Most young patients with X-linked adrenoleukodystrophy develop seizures and progressive neurologic deficits, and die within the first two decades of life. Congenital or acquired disorders of the respiratory system have not been previously described in patients with X-linked adrenoleukodystrophy. Case presentation A 3-year-old Arabic boy from Yemen presented with discoloration of the mucous membranes and nail beds, which were considered cyanoses due to methemoglobinemia. He also had shortness of breath, fatigue, emesis and dehydration episodes for which he was admitted to our hospital. Chest radiograph and chest computed tomography scans showed congenital pulmonary adenomatoid malformation. A few weeks before the removal of the malformation, he had a significant episode of hypotension and hypoglycemia. This development required further in-hospital evaluation that led to the diagnosis of adrenal insufficiency and the initiation of treatment with corticosteroids. One year later, he developed seizures and loss of consciousness. Magnetic resonance imaging of his head showed diffuse demyelination secondary to X-linked adrenoleukodystrophy. He was treated with anti-seizure and anti-oxidants, and was referred for bone marrow transplant evaluation. Conclusion The presence of adrenal insufficiency, neurologic deficits and seizures are common manifestations of X-linked adrenoleukodystrophy. The association of congenital lung disease with X-linked adrenoleukodystrophy or Addison's disease has not been described previously.

Juvenile rheumatoid arthritis

Science.gov (United States)

... joints. This form of JIA may turn into rheumatoid arthritis. It may involve 5 or more large and ... no known prevention for JIA. Alternative Names Juvenile rheumatoid arthritis (JRA); Juvenile chronic polyarthritis; Still disease; Juvenile spondyloarthritis ...

X-Linked Creatine Transporter Deficiency Presenting as a Mitochondrial Disorder

NARCIS (Netherlands)

Hathaway, S.C.; Friez, M.; Limbo, K.; Parker, C.; Salomons, G.S.; Vockley, J.; Wood, T.; Abdul-Rahman, O.A.

2010-01-01

X-linked creatine transporter defect is caused by mutations in SLC6A8 at Xq28, which encodes the sodium-dependent creatine transporter. Reduction in creatine uptake results in elevated urine creatine and CSF creatine deficiency, which can be detected on magnetic resonance spectroscopy. We report a

Multipoint linkage analysis and homogeneity tests in 15 Dutch X-linked retinitis pigmentosa families

NARCIS (Netherlands)

Bergen, A. A.; van den Born, L. I.; Schuurman, E. J.; Pinckers, A. J.; van Ommen, G. J.; Bleekers-Wagemakers, E. M.; Sandkuijl, L. A.

1995-01-01

Linkage analysis and homogeneity tests were carried out in 15 Dutch families segregating X-linked retinitis pigmentosa (X L R P). The study included segregation data for eight polymorphic DNA markers from the short arm of the human X chromosome. The results of both multipoint linkage analysis in

Non-syndromic posterior lenticonus a cause of childhood cataract: evidence for X-linked inheritance.

Science.gov (United States)

Russell-Eggitt, I M

2000-12-01

When an X-linked pedigree of posterior lenticonus with cataract was identified further evidence for X-linked inheritance of this condition was sought. Forty-three cases of posterior lenticonus were identified from a database of 354 children with cataract. Two children with the X-linked syndromes of Lowe and Nance-Horan and 3 children with Fanconi syndrome have been excluded from further analysis. None of the children was deaf. None of the non-syndromic cases had microcornea. There were 38 cases of non-syndromic posterior lenticonus (approximately 11%). There were 15 children from 13 pedigrees and 23 apparently sporadic cases. Of the 106 cases on the database with unilateral cataract 15 had posterior lenticonus (approximately 14%). Eleven of 13 pedigrees were compatible with X-linked inheritance or autosomal dominant inheritance with variable expression. However, in 2 pedigrees there was father to son transmission. Posterior lenticonus is a common cause of unilateral infantile cataract, but is thought to be a rare cause of bilateral cataracts. This study suggests that posterior lenticonus is responsible for a significant proportion of childhood cataracts (approximately 14% of unilateral and approximately 9% of bilateral cases). Posterior lenticonus is generally thought to occur as a sporadic condition. This study demonstrates that there is a family history of early-onset cataract in a significant number of bilateral cases (approximately 58%).

Genotype-phenotype variations in five Spanish families with Norrie disease or X-linked FEVR.

Science.gov (United States)

Riveiro-Alvarez, Rosa; Trujillo-Tiebas, Maria José; Gimenez-Pardo, Ascension; Garcia-Hoyos, Maria; Cantalapiedra, Diego; Lorda-Sanchez, Isabel; Rodriguez de Alba, Marta; Ramos, Carmen; Ayuso, Carmen

2005-09-02

Norrie disease (OMIM 310600) is a rare X-linked disorder characterized by congenital blindness in males. Approximately 40 to 50% of the cases develop deafness and mental retardation. X-linked familial exudative vitreoretinopathy (XL-FEVR) is a hereditary ocular disorder characterized by a failure of peripheral retinal vascularization. Both X-linked disorders are due to mutations in the NDP gene, which encodes a 133 amino acid protein called Norrin, but autosomal recessive (AR) and autosomal dominant (AD) forms of FEVR have also been described. In this study, we report the molecular findings and the related phenotype in five Spanish families affected with Norrie disease or XL-FEVR due to mutations of the NDP gene. The study was conducted in 45 subjects from five Spanish families. These families were clinically diagnosed with Norrie disease or similar conditions. The three exons of the NDP gene were analyzed by automatic DNA sequencing. Haplotype analyses were also performed. Two new nonsense mutations, apart from other mutations previously described in the NDP gene, were found in those patients affected with ND or X-linked FEVR. An important genotype-phenotype variation was found in relation to the different mutations of the NDP gene. In fact, the same mutation may be responsible for different phenotypes. We speculate that there might be other molecular factors that interact in the retina with Norrin, which contribute to the resultant phenotypes.

Truancy Reduction: Keeping Students in School. Juvenile Justice Bulletin.

Science.gov (United States)

Baker, Myriam L.; Sigmon, Jane Nady; Nugent, M. Elaine

Each school day, hundreds of thousands of students are missing from their classrooms--many without a bona fide excuse. Left unchecked, truancy is a risk factor for serious juvenile delinquency. Truancy's impact also extends into the adult years where it has been linked to numerous negative outcomes. Consequently, it is critical to identify…

Frequency of CNKSR2 mutation in the X-linked epilepsy-aphasia spectrum.

Science.gov (United States)

Damiano, John A; Burgess, Rosemary; Kivity, Sara; Lerman-Sagie, Tally; Afawi, Zaid; Scheffer, Ingrid E; Berkovic, Samuel F; Hildebrand, Michael S

2017-03-01

Synaptic proteins are critical to neuronal function in the brain, and their deficiency can lead to seizures and cognitive impairments. CNKSR2 (connector enhancer of KSR2) is a synaptic protein involved in Ras signaling-mediated neuronal proliferation, migration and differentiation. Mutations in the X-linked gene CNKSR2 have been described in patients with seizures and neurodevelopmental deficits, especially those affecting language. In this study, we sequenced 112 patients with phenotypes within the epilepsy-aphasia spectrum (EAS) to determine the frequency of CNKSR2 mutation within this complex set of disorders. We detected a novel nonsense mutation (c.2314 C>T; p.Arg712*) in one Ashkenazi Jewish family, the male proband of which had a severe epileptic encephalopathy with continuous spike-waves in sleep (ECSWS). His affected brother also had ECSWS with better outcome, whereas the sister had childhood epilepsy with centrotemporal spikes. This mutation segregated in the three affected siblings in an X-linked manner, inherited from their mother who had febrile seizures. Although the frequency of point mutation is low, CNKSR2 sequencing should be considered in families with suspected X-linked EAS because of the specific genetic counseling implications. Wiley Periodicals, Inc. © 2017 International League Against Epilepsy.

A complex genetic basis to X-linked hybrid male sterility between two species of house mice.

Science.gov (United States)

Good, Jeffrey M; Dean, Matthew D; Nachman, Michael W

2008-08-01

The X chromosome plays a central role in the evolution of reproductive isolation, but few studies have examined the genetic basis of X-linked incompatibilities during the early stages of speciation. We report the results of a large experiment focused on the reciprocal introgression of the X chromosome between two species of house mice, Mus musculus and M. domesticus. Introgression of the M. musculus X chromosome into a wild-derived M. domesticus genetic background produced male-limited sterility, qualitatively consistent with previous experiments using classic inbred strains to represent M. domesticus. The genetic basis of sterility involved a minimum of four X-linked factors. The phenotypic effects of major sterility QTL were largely additive and resulted in complete sterility when combined. No sterility factors were uncovered on the M. domesticus X chromosome. Overall, these results revealed a complex and asymmetric genetic basis to X-linked hybrid male sterility during the early stages of speciation in mice. Combined with data from previous studies, we identify one relatively narrow interval on the M. musculus X chromosome involved in hybrid male sterility. Only a handful of spermatogenic genes are within this region, including one of the most rapidly evolving genes on the mouse X chromosome.

Skin barrier properties in patients with recessive X-linked ichthyosis

DEFF Research Database (Denmark)

Johansen, J D; Ramsing, D; Vejlsgaard, G

1995-01-01

Patients with X-linked recessive ichthyosis (RXLI) were studied as a model of the effect of disturbed epidermal lipid composition on skin barrier function. Thirteen patients with RXLI and 15 age- and sex-matched controls were patch-tested with sodium lauryl sulphate (SLS) 0.5% for 24 h. Basal skin...

Woman with x-linked recessive dystonia-parkinsonism: clue to the epidemiology of parkinsonism in Filipino women?

Science.gov (United States)

Domingo, Aloysius; Lee, Lillian V; Brüggemann, Norbert; Freimann, Karen; Kaiser, Frank J; Jamora, Roland D G; Rosales, Raymond L; Klein, Christine; Westenberger, Ana

2014-09-01

Despite recessive inheritance, X-linked dystonia-parkinsonism (Lubag disease) has also been described in women presenting with a late-onset isolated parkinsonian syndrome. Interestingly, unlike in other populations, there is a slight female predominance in the prevalence of parkinsonism in the Philippines. In a Filipino woman with suspected Parkinson disease, we confirmed the presence of all changes specific for X-linked dystonia-parkinsonism in genomic DNA. Subsequently, we analyzed complementary DNA and evaluated the methylation status of the androgen receptor gene. Owing to extremely skewed (98%:2%) X-chromosome inactivation, the patient expressed almost solely the mutated allele in a disease-specific change, rendering her molecularly comparable with a hemizygously affected man. Skewed X-chromosome inactivation is the likely cause of parkinsonism in this heterozygous mutation carrier. Because women carriers of the genetic changes specific for X-linked dystonia-parkinsonism are common in the Philippines, the epigenetic factor of nonrandom X-chromosome inactivation may contribute to the skewing of the sex prevalence of parkinsonism toward women in this country, warranting further investigation.

Linking functional response and bioenergetics to estimate juvenile salmon growth in a reservoir food web

Science.gov (United States)

Haskell, Craig A.; Beauchamp, David A.; Bollens, Stephen M.

2017-01-01

Juvenile salmon (Oncorhynchus spp.) use of reservoir food webs is understudied. We examined the feeding behavior of subyearling Chinook salmon (O. tshawytscha) and its relation to growth by estimating the functional response of juvenile salmon to changes in the density of Daphnia, an important component of reservoir food webs. We then estimated salmon growth across a broad range of water temperatures and daily rations of two primary prey, Daphnia and juvenile American shad (Alosa sapidissima) using a bioenergetics model. Laboratory feeding experiments yielded a Type-II functional response curve: C = 29.858 P *(4.271 + P)-1 indicating that salmon consumption (C) of Daphnia was not affected until Daphnia densities (P) were < 30 · L-1. Past field studies documented Daphnia densities in lower Columbia River reservoirs of < 3 · L-1 in July but as high as 40 · L-1 in August. Bioenergetics modeling indicated that subyearlings could not achieve positive growth above 22°C regardless of prey type or consumption rate. When feeding on Daphnia, subyearlings could not achieve positive growth above 20°C (water temperatures they commonly encounter in the lower Columbia River during summer). At 16–18°C, subyearlings had to consume about 27,000 Daphnia · day-1 to achieve positive growth. However, when feeding on juvenile American shad, subyearlings had to consume 20 shad · day-1 at 16–18°C, or at least 25 shad · day-1 at 20°C to achieve positive growth. Using empirical consumption rates and water temperatures from summer 2013, subyearlings exhibited negative growth during July (-0.23 to -0.29 g · d-1) and August (-0.05 to -0.07 g · d-1). By switching prey from Daphnia to juvenile shad which have a higher energy density, subyearlings can partially compensate for the effects of higher water temperatures they experience in the lower Columbia River during summer. However, achieving positive growth as piscivores requires subyearlings to feed at

Examining the link between traumatic events and delinquency among juvenile delinquent girls: A longitudinal study

Science.gov (United States)

Marsiglio, Mary C.; Chronister, Krista M.; Gibson, Brandon; Leve, Leslie D.

2014-01-01

Researchers have postulated associations between childhood trauma and delinquency, but few have examined the direction of these relationships prospectively and, specifically, with samples of delinquent girls. The purpose of this study was to examine the relationship between traumatic events and delinquency for girls in the juvenile justice system using a cross-lagged model. Developmental differences in associations as a function of high school entry status were also examined. The sample included 166 girls in the juvenile justice system who were mandated to community-based out-of-home care due to chronic delinquency. Overall, study results provide evidence that trauma and delinquency risk pathways vary according to high school entry status. Implications for future research and practice are discussed. PMID:25580179

Somatic mosaicism underlies X-linked acrogigantism syndrome in sporadic male subjects

NARCIS (Netherlands)

A.F. Daly (Adrian); B. Yuan (Bo); Fina, F. (Frederic); J.-H. Caberg (Jean-Hubert); G. Trivellin (Giampaolo); L. Rostomyan (Liliya); W.W. de Herder (Wouter); L.A. Naves (Lucianna); D. Metzger (Daniel); T. Cuny (Thomas); Rabl, W. (Wolfgang); N.S. Shah (Nalini Samir); M-L. Jaffrain-Rea (Marie-Lise); Chiara Zatelli, M. (Maria); F.R. Faucz (Fabio R.); E. Castermans (Emilie); Nanni-Metellus, I. (Isabelle); Lodish, M. (Maya); A. Muhammad (Ammar); Palmeira, L. (Leonor); Potorac, I. (Iulia); G. Mantovani (Giovanna); S.J.C.M.M. Neggers (Bas); Klein, M. (Marc); A. Barlier (Anne); P. Liu (Pengfei); Ouafik, L. (L'houcine); V. Bours (Vincent); Lupski, J.R. (James R.); C.A. Stratakis (Constantine); A. Beckers (Albert)

2016-01-01

textabstractSomatic mosaicism has been implicated as a causative mechanism in a number of genetic and genomic disorders. X-linked acrogigantism (XLAG)syndrome is a recently characterized genomic form of pediatric gigantism due to aggressive pituitary tumors that is caused by submicroscopic

[Effect of light intensity on the growth and digestive enzyme activity of juvenile sea cucumber Apostichopus japonicas under two kinds of culture methods].

Science.gov (United States)

Wei, Zi-Zhong; Zhao, Wen

2014-01-01

The effects of light intensity (0, 1000, 2000 and 3000 1x) on the growth and digestive enzyme activity of juvenile sea cucumber Apostichopus japonicus under two kinds of culture methods (compound Chinese medicine preparation and microbial preparation) were studied. Results showed that the relative mass gain rate (WGR) and the specific growth rate (SGR) of juvenile sea cucumber were significantly affected by light intensity (P sea cucumber under different light intensities were 2000 1x > 1000 1x > 3000 1x > 0 1x. Under the same light intensity, the growth of juvenile sea cucumber under the two kinds of culture methods were significantly different (P sea cucumber. The order of amylase and lipase activity was 2000 1x > 1000 1x > 3000 1x > 0 1x, while that of protease activity was 1000 1x > 2000 1x > 0 1x > 3000 1x. Under the same light intensity, the digestive enzyme activities of the Chinese medicine treatment were generally higher than those of the microbial treatment.

[Clinical and molecular study in a child with X-linked hypohidrotic ectodermal dysplasia].

Science.gov (United States)

Callea, Michele; Yavuz, Izzet; Clarich, Gabriella; Cammarata-Scalisi, Francisco

2015-12-01

Ectodermal dysplasia encompasses more than 200 clinically distinct entities, which affect at least two structures derived from the ectoderm, including the skin, hair, nails, teeth, sweat glands, and sebaceous glands. X-linked hypohidrotic ectodermal dysplasia is the most common type and is caused by mutation of the EDA gene that encodes Ectodysplasin-A. It occurs in less than 1 in 100 000 individuals and is clinically characterized by hypodontia, hypohidrosis, hypotrichosis, and eye dis orders. We present a child evaluated in a multidisciplinary manner with clinical and molecular diagnosis of X-linked hypohidrotic ectodermal dysplasia with type missense mutation c.1133C> T; p.T378M in EDA gene.

X-linked adrenal hypoplasia congenita: a case report and ethical dilemma.

Science.gov (United States)

Ismail, Heba M; Rincon, Marielisa

2014-07-01

Our objective is to present the first case report of X-linked adrenal hypoplasia congenita in a child conceived by a donated egg and which also presented atypically, with initial mineralocorticoid deficiency. Case report with literature review. A late preterm fraternal twin male, conceived by in vitro fertilization of donated eggs, presented shortly after birth with feeding intolerance, hyponatremia, and hyperkalemia. Testing revealed a low aldosterone level, high plasma renin activity, normal cortisol level, and normal 17-hydroxyprogesterone level. He was diagnosed with 18-hydroxylase deficiency based on low 18-hydroxycorticosterone levels and was treated with mineralocorticoid successfully for 17 months. At age 18 months, he presented with dehydration secondary to herpetic gingivostomatitis and was found to be hypoglycemic, hyponatremic, hyperkalemic, and acidotic, with a low serum cortisol level. An adrenocorticotropic hormone (ACTH) stimulation test revealed low levels of all adrenal cortex products, with an elevated ACTH level. He was started on glucocorticoids. Genetic testing confirmed X-linked adrenal hypoplasia congenita (AHC). His asymptomatic fraternal twin underwent genetic testing and the results were negative. The fertility center records indicated that the mother had donated eggs to other families, but none of the children were known to have this disorder. The egg donor was informed but did not pursue genetic testing. We report a case of X-linked AHC presenting in the context of extraordinary ethical considerations. Our case raises a question unique to the era of assisted reproduction: should routine genetic screening of gamete donors be done for rare but potentially life-threatening conditions?

Conceptualizing juvenile prostitution as child maltreatment: findings from the National Juvenile Prostitution Study.

Science.gov (United States)

Mitchell, Kimberly J; Finkelhor, David; Wolak, Janis

2010-02-01

Two studies were conducted to identify the incidence (Study 1) and characteristics (Study 2) of juvenile prostitution cases known to law enforcement agencies in the United States. Study 1 revealed a national estimate of 1,450 arrests or detentions (95% confidence interval [CI]: 1,287-1,614) in cases involving juvenile prostitution during a 1-year period. In Study 2, exploratory data were collected from a subsample of 138 cases from police records in 2005. The cases are broadly categorized into three main types: (a) third-party exploiters, (b) solo prostitution, and (c) conventional child sexual abuse (CSA) with payment. Cases were classified into three initial categories based on police orientation toward the juvenile: (a) juveniles as victims (53%), (b) juveniles as delinquents (31%), and (c) juvenile as both victims and delinquents (16%). When examining the status of the juveniles by case type, the authors found that all the juveniles in CSA with payment cases were treated as victims, 66% in third-party exploiters cases, and 11% in solo cases. Findings indicate law enforcement responses to juvenile prostitution are influential in determining whether such youth are viewed as victims of commercial sexual exploitation or as delinquents.

Radiotherapy of the juvenile xanthogranuloma of the iris

Energy Technology Data Exchange (ETDEWEB)

Keinert, K; Lukassek, B; Thieme, R; Schumann, E

1981-01-01

A report is given on an eight months old child with a juvenile xanthogranuloma of the iris and a secondary glaucoma. After radiotherapy with 6 x 0,5 Gy under conventional deep therapy conditions, a regression of the increased intraocular pressure was observed. In case of a juvenile xanthogranuloma of the iris, this secondary glaucoma represents in any case an acute danger to the eye, so it must be treated immediately. Radiotherapy has to be considered as the method of choice; it is also discussed with regard to the risk and the avoidance of a radiation cataract which, however, has to be tolerated in certain cases in order to prevent greater troubles.

Mapping of the X-linked cataract (Xcat) mutation, the gene implicated in the Nance Horan syndrome, on the mouse X chromosome.

Science.gov (United States)

Stambolian, D; Favor, J; Silvers, W; Avner, P; Chapman, V; Zhou, E

1994-07-15

The Xcat mutation in the mouse, an X-linked inherited disorder, is characterized by the congenital onset of cataracts. The cataracts have morphologies similar to those of cataracts found in the human Nance Horan (X-linked cataract dental) syndrome, suggesting that Xcat is an animal model for Nance Horan. The Xcat mutation provides an opportunity to investigate, at the molecular level, the pathogenesis of cataract. As a first step to cloning the Xcat gene, we report the localization of the Xcat mutation with respect to known molecular markers on the mouse X chromosome. Back-cross progeny carrying the Xcat mutation were obtained from an interspecific cross. Genomic DNA from each mouse was subjected to Southern and PCR analysis to identify restriction fragment length polymorphisms and simple sequence length polymorphisms, respectively. Our results refine the location of Xcat to a 2-cM region, eliminate several genes from consideration as the Xcat mutation, identify molecular probes tightly linked with Xcat, and suggest candidate genes responsible for the Xcat phenotype.

The rapid evolution of X-linked male-biased gene expression and the large-X effect in Drosophila yakuba, D. santomea, and their hybrids.

Science.gov (United States)

Llopart, Ana

2012-12-01

The X chromosome has a large effect on hybrid dysfunction, particularly on hybrid male sterility. Although the evidence for this so-called large-X effect is clear, its molecular causes are not yet fully understood. One possibility is that, under certain conditions, evolution proceeds faster in X-linked than in autosomal loci (i.e., faster-X effect) due to both natural selection and their hemizygosity in males, an effect that is expected to be greatest in genes with male-biased expression. Here, I study genome-wide variation in transcript abundance between Drosophila yakuba and D. santomea, within these species and in their hybrid males to evaluate both the faster-X and large-X effects at the level of expression. I find that in X-linked male-biased genes (MBGs) expression evolves faster than in their autosomal counterparts, an effect that is accompanied by a unique reduction in expression polymorphism. This suggests that Darwinian selection is driving expression differences between species, likely enhanced by the hemizygosity of the X chromosome in males. Despite the recent split of the two sister species under study, abundant changes in both cis- and trans-regulatory elements underlie expression divergence in the majority of the genes analyzed, with significant differences in allelic ratios of transcript abundance between the two reciprocal F(1) hybrid males. Cis-trans coevolution at molecular level, evolved shortly after populations become isolated, may therefore contribute to explain the breakdown of the regulation of gene expression in hybrid males. Additionally, the X chromosome plays a large role in this hybrid male misexpression, which affects not only MBG but also, to a lesser degree, nonsex-biased genes. Interestingly, hybrid male misexpression is concentrated mostly in autosomal genes, likely facilitated by the rapid evolution of sex-linked trans-acting factors. I suggest that the faster evolution of X-linked MBGs, at both protein and expression levels

+2.71 LOD score at zero recombination is not sufficient for establishing linkage between X-linked mental retardation and X-chromosome markers

Energy Technology Data Exchange (ETDEWEB)

Robledo, R.; Melis, P.; Siniscalco, M. [and others

1996-07-12

Nonspecific X-linked mental retardation (MRX) is the denomination attributed to the familial type of mental retardation compatible with X-linked inheritance but lacking specific phenotypic manifestations. It is thus to be expected that families falling under such broad definition are genetically heterogeneous in the sense that they may be due to different types of mutations occurring, most probably, at distinct X-chromosome loci. To facilitate a genetic classification of these conditions, the Nomenclature Committee of the Eleventh Human Gene Mapping Workshop proposed to assign a unique MRX-serial number to each family where evidence of linkage with one or more X-chromosome markers had been established with a LOD score of at least +2 at zero recombination. This letter is meant to emphasize the inadequacy of this criterion for a large pedigree where the segregation of the disease has been evaluated against the haplotype constitution of the entire X-chromosome carrying the mutation in question. 12 refs., 2 figs., 1 tab.

X-linked primary immunodeficiency associated with hemizygous mutations in the moesin (MSN) gene.

Science.gov (United States)

Lagresle-Peyrou, Chantal; Luce, Sonia; Ouchani, Farid; Soheili, Tayebeh Shabi; Sadek, Hanem; Chouteau, Myriam; Durand, Amandine; Pic, Isabelle; Majewski, Jacek; Brouzes, Chantal; Lambert, Nathalie; Bohineust, Armelle; Verhoeyen, Els; Cosset, François-Loïc; Magerus-Chatinet, Aude; Rieux-Laucat, Frédéric; Gandemer, Virginie; Monnier, Delphine; Heijmans, Catherine; van Gijn, Marielle; Dalm, Virgil A; Mahlaoui, Nizar; Stephan, Jean-Louis; Picard, Capucine; Durandy, Anne; Kracker, Sven; Hivroz, Claire; Jabado, Nada; de Saint Basile, Geneviève; Fischer, Alain; Cavazzana, Marina; André-Schmutz, Isabelle

2016-12-01

We investigated 7 male patients (from 5 different families) presenting with profound lymphopenia, hypogammaglobulinemia, fluctuating monocytopenia and neutropenia, a poor immune response to vaccine antigens, and increased susceptibility to bacterial and varicella zoster virus infections. We sought to characterize the genetic defect involved in a new form of X-linked immunodeficiency. We performed genetic analyses and an exhaustive phenotypic and functional characterization of the lymphocyte compartment. We observed hemizygous mutations in the moesin (MSN) gene (located on the X chromosome and coding for MSN) in all 7 patients. Six of the latter had the same missense mutation, which led to an amino acid substitution (R171W) in the MSN four-point-one, ezrin, radixin, moesin domain. The seventh patient had a nonsense mutation leading to a premature stop codon mutation (R533X). The naive T-cell counts were particularly low for age, and most CD8 + T cells expressed the senescence marker CD57. This phenotype was associated with impaired T-cell proliferation, which was rescued by expression of wild-type MSN. MSN-deficient T cells also displayed poor chemokine receptor expression, increased adhesion molecule expression, and altered migration and adhesion capacities. Our observations establish a causal link between an ezrin-radixin-moesin protein mutation and a primary immunodeficiency that could be referred to as X-linked moesin-associated immunodeficiency. Copyright © 2016 American Academy of Allergy, Asthma & Immunology. Published by Elsevier Inc. All rights reserved.

A Functional Link between the Histone Demethylase PHF8 and the Transcription Factor ZNF711 in X-Linked Mental Retardation

DEFF Research Database (Denmark)

Kleine-Kohlbrecher, Daniela; Christensen, Jesper; Vandamme, Julien

2010-01-01

X-linked mental retardation (XLMR) is an inherited disorder that mostly affects males and is caused by mutations in genes located on the X chromosome. Here, we show that the XLMR protein PHF8 and a C. elegans homolog F29B9.2 catalyze demethylation of di- and monomethylated lysine 9 of histone H3 (H......3K9me2/me1). The PHD domain of PHF8 binds to H3K4me3 and colocalizes with H3K4me3 at transcription initiation sites. Furthermore, PHF8 interacts with another XMLR protein, ZNF711, which binds to a subset of PHF8 target genes, including the XLMR gene JARID1C. Of interest, the C. elegans PHF8 homolog...... is highly expressed in neurons, and mutant animals show impaired locomotion. Taken together, our results functionally link the XLMR gene PHF8 to two other XLMR genes, ZNF711 and JARID1C, indicating that MR genes may be functionally linked in pathways, causing the complex phenotypes observed in patients...

Substitution rates in the X- and Y-linked genes of the plants, Silene latifolia and S. dioica.

Science.gov (United States)

Filatov, Dmitry A; Charlesworth, Deborah

2002-06-01

Theory predicts that selection should be less effective in the nonrecombining genes of Y-chromosomes, relative to the situation for genes on the other chromosomes, and this should lead to the accumulation of deleterious nonsynonymous substitutions. In addition, synonymous substitution rates may differ between X- and Y-linked genes because of the male-driven evolution effect and also because of actual differences in per-replication mutation rates between the sex chromosomes. Here, we report the first study of synonymous and nonsynonymous substitution rates on plant sex chromosomes. We sequenced two pairs of sex-linked genes, SlX1-SlY1 and SlX4-SlY4, from dioecious Silene latifolia and S. dioica, and their non-sex-linked homologues from nondioecious S. vulgaris and Lychnis flos-jovis, respectively. The rate of nonsynonymous substitutions in the SlY4 gene is significantly higher than that in the SlX4 gene. Silent substitution rates are also significantly higher in both Y-linked genes, compared with their X-linked homologues. The higher nonsynonymous substitution rate in the SlY4 gene is therefore likely to be caused by a mutation rate difference between the sex chromosomes. The difference in silent substitution rates between the SlX4 and SlY4 genes is too great to be explained solely by a higher per-generation mutation rate in males than females. It is thus probably caused by a difference in per-replication mutation rates between the sex chromosomes. This suggests that the local mutation rate can change in a relatively short evolutionary time.

Juvenile Arthritis

Science.gov (United States)

Juvenile arthritis (JA) is arthritis that happens in children. It causes joint swelling, pain, stiffness, and loss of motion. It can affect any joint, but ... of JA that children get is juvenile idiopathic arthritis. There are several other forms of arthritis affecting ...

High bone mineral apparent density in children with X-linked hypophosphatemia

DEFF Research Database (Denmark)

Beck-Nielsen, Signe; Brixen, K; Gram, J

2013-01-01

of the spine compared to femoral neck. INTRODUCTION: BMAD obtained by dual-energy X-ray absorptiometry scans in children with XLH was evaluated, as they are unlikely to have the extra-skeletal ossifications contributing to the elevated bone mineral density of the spine in adult patients. METHODS: A total of 15......Bone mineral apparent density (BMAD) in children with X-linked hypophosphatemia (XLH) was evaluated, as they are unlikely to have extra-skeletal ossifications contributing to the elevated bone mineral density of the spine in adult patients. Children with XLH also had significantly higher BMAD...

What Is Juvenile Arthritis?

Science.gov (United States)

... Initiative Breadcrumb Home Health Topics English Español Juvenile Arthritis Basics In-Depth Download Download EPUB Download PDF What is it? Points To Remember About Juvenile Arthritis Juvenile arthritis is the term used to describe ...

X-linked recessive primary retinal dysplasia is linked to the Norrie disease locus.

Science.gov (United States)

Ravia, Y; Braier-Goldstein, O; Bat-Miriam, K M; Erlich, S; Barkai, G; Goldman, B

1993-08-01

X-linked primary retinal dysplasia (PRD) refers to an abnormal proliferation of retinal tissue causing either its neural elements or its glial tissue to form folds, giving rise to gliosis. A Jewish family of oriental origin was previously reported by Godel and Goodman, in which a total of five males suffer from different degrees of blindness. The authors postulated that the described findings are distinguished from Norrie disease, since in this case no clinical findings, other than those associated with the eyes, were noticed in the affected males. In addition, two of the carrier females exhibit minimal eye changes. We have performed linkage analysis of the family using the L1.28, p58-1 and m27 beta probes, and DXS426 and MAOB associated microsatellites. Our results map the gene responsible for the disorder between the MAOB and DXS426, m27 beta and p58-1 loci, on the short arm of the X chromosome at Xp11.3, which suggest the possibility that the same gene is responsible for both primary retinal dysplasia and Norrie disease.

Juvenile hormone III, hydroprene and a juvenogen as soldier caste differentiation regulators in three Reticulitermes species: potential of juvenile hormone analogues in termite control

Czech Academy of Sciences Publication Activity Database

Hrdý, Ivan; Kuldová, Jelena; Hanus, Robert; Wimmer, Zdeněk

2006-01-01

Roč. 62, č. 9 (2006), s. 848-854 ISSN 1526-498X R&D Projects: GA AV ČR(CZ) IBS4055104 Institutional research plan: CEZ:AV0Z40550506 Keywords : termites * juvenile hormone Subject RIV: CC - Organic Chemistry Impact factor: 1.428, year: 2006

Germline but macrophage-tropic CYBB mutations in kindreds with X-linked predisposition to tuberculous mycobacterial diseases

OpenAIRE

2011-01-01

Abstract Germline mutations in the human CYBB gene, encoding the gp91phox subunit of the phagocyte NADPH oxidase, impair the respiratory burst of phagocytes and result in X-linked chronic granulomatous disease. We report two kindreds in which otherwise healthy male adults show X-linked recessive Mendelian susceptibility to mycobacterial diseases. These patients harbor mutations in CYBB that profoundly reduce the respiratory burst in monocyte-derived macrophages, but not in monocyte...

Signs of testicular insufficiency in adrenomyeloneuropathy and neurologically asymptomatic X-linked adrenoleukodystrophy: a retrospective study

NARCIS (Netherlands)

Assies, J.; Gooren, L. J.; van Geel, B.; Barth, P. G.

1997-01-01

X-linked adrenoleukodystrophy (X-ALD) is characterized by central nervous system demyelination, and impaired steroidogenesis in the adrenal cortex and testis. Most patients develop adrenocortical insufficiency. We studied retrospectively the frequency and severity of testicular dysfunction in 26 men

[X-linked adrenoleukodystrophy: a report of three cases. The importance of early diagnosis].

Science.gov (United States)

López Úbeda, Marta; de Arriba Muñoz, Antonio; Ferrer Lozano, Marta; Labarta Aizpún, José I; García Jiménez, María C

2017-10-01

X-linked adrenoleukodystrophy is the most common peroxisomal disorder. This disease is caused by a defect in the ABCD1 gen. Saturated very long chain fatty acids are accumulated in serum, adrenal cortex and central nervous system white matter. The clinical spectrum is characterized by progressive neurological dysfunction and adrenal insufficiency with a devastating prognosis. We report a first case of X-linked adrenoleukodystrophy with fatal evolution which identified two asymptomatic family members and established a preventive treatment. Although there is no definitive cure, we stress the importance of family study and evaluation of the individual in situation of risk to establish an early preventive treatment and to give in each particular situation suitable professional advice. Sociedad Argentina de Pediatría.

Patulous Subarachnoid Space of the Optic Nerve Associated with X-Linked Hypophosphatemic Rickets.

Science.gov (United States)

Galvez-Ruiz, Alberto; Chaudhry, Imtiaz

2013-01-01

Although the deficiency forms are the most common manifestations of rickets, there are other forms of rickets that are resistant to vitamin D. Of these, the most common is X-linked hypophosphatemic rickets. Rickets represents a group of multiple cranial bone disorders-craniosynostosis and the presence of Chari I malformation being the most notable-that explain the increase in intracranial pressure. We present a 4-year-old patient with an unusual association of X-linked hypophosphataemic rickets, bilateral proptosis, and prominent bilateral widening of the optic nerve sheaths. Although the association between intracranial hypertension and rickets is known, to the best of our knowledge, such a prominent distention of the subarachnoid space of the optic nerve without papilloedema has not been previously described.

Accounting for eXentricities: analysis of the X chromosome in GWAS reveals X-linked genes implicated in autoimmune diseases.

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Diana Chang

Full Text Available Many complex human diseases are highly sexually dimorphic, suggesting a potential contribution of the X chromosome to disease risk. However, the X chromosome has been neglected or incorrectly analyzed in most genome-wide association studies (GWAS. We present tailored analytical methods and software that facilitate X-wide association studies (XWAS, which we further applied to reanalyze data from 16 GWAS of different autoimmune and related diseases (AID. We associated several X-linked genes with disease risk, among which (1 ARHGEF6 is associated with Crohn's disease and replicated in a study of ulcerative colitis, another inflammatory bowel disease (IBD. Indeed, ARHGEF6 interacts with a gastric bacterium that has been implicated in IBD. (2 CENPI is associated with three different AID, which is compelling in light of known associations with AID of autosomal genes encoding centromere proteins, as well as established autosomal evidence of pleiotropy between autoimmune diseases. (3 We replicated a previous association of FOXP3, a transcription factor that regulates T-cell development and function, with vitiligo; and (4 we discovered that C1GALT1C1 exhibits sex-specific effect on disease risk in both IBDs. These and other X-linked genes that we associated with AID tend to be highly expressed in tissues related to immune response, participate in major immune pathways, and display differential gene expression between males and females. Combined, the results demonstrate the importance of the X chromosome in autoimmunity, reveal the potential of extensive XWAS, even based on existing data, and provide the tools and incentive to properly include the X chromosome in future studies.

Juvenile Firesetting.

Science.gov (United States)

Peters, Brittany; Freeman, Bradley

2016-01-01

Juvenile firesetting is a significant cause of morbidity and mortality in the United States. Male gender, substance use, history of maltreatment, interest in fire, and psychiatric illness are commonly reported risk factors. Interventions that have been shown to be effective in juveniles who set fires include cognitive behavior therapy and educational interventions, whereas satiation has not been shown to be an effective intervention. Forensic assessments can assist the legal community in adjudicating youth with effective interventions. Future studies should focus on consistent assessment and outcome measures to create more evidence for directing evaluation and treatment of juvenile firesetters. Copyright © 2016 Elsevier Inc. All rights reserved.

Evidence for increased SOX3 dosage as a risk factor for X-linked hypopituitarism and neural tube defects

NARCIS (Netherlands)

Bauters, M.; Frints, S.G.; Esch, H. van; Spruijt, L.; Baldewijns, M.M.; Die-Smulders, C.E.M. de; Fryns, J.P.; Marynen, P.; Froyen, G.

2014-01-01

Genomic duplications of varying lengths at Xq26-q27 involving SOX3 have been described in families with X-linked hypopituitarism. Using array-CGH we detected a 1.1 Mb microduplication at Xq27 in a large family with three males suffering from X-linked hypopituitarism. The duplication was mapped from

CRISPR/Cas9 Promotes Functional Study of Testis Specific X-Linked Gene In Vivo.

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Minyan Li

Full Text Available Mammalian spermatogenesis is a highly regulated multistage process of sperm generation. It is hard to uncover the real function of a testis specific gene in vitro since the in vitro model is not yet mature. With the development of the CRISPR/Cas9 (Clustered Regularly Interspaced Short Palindromic Repeats/CRISPR-associated 9 system, we can now rapidly generate knockout mouse models of testis specific genes to study the process of spermatogenesis in vivo. SYCP3-like X-linked 2 (SLX2 is a germ cell specific component, which contains a Cor1 domain and belongs to the XLR (X-linked, lymphocyte regulated family. Previous studies suggested that SLX2 might play an important role in mouse spermatogenesis based on its subcellular localization and interacting proteins. However, the function of SLX2 in vivo is still elusive. Here, to investigate the functions of SLX2 in spermatogenesis, we disrupted the Slx2 gene by using the CRISPR/Cas9 system. Since Slx2 is a testis specific X-linked gene, we obtained knockout male mice in the first generation and accelerated the study process. Compared with wild-type mice, Slx2 knockout mice have normal testis and epididymis. Histological observation of testes sections showed that Slx2 knockout affected none of the three main stages of spermatogenesis: mitosis, meiosis and spermiogenesis. In addition, we further confirmed that disruption of Slx2 did not affect the number of spermatogonial stem cells, meiosis progression or XY body formation by immunofluorescence analysis. As spermatogenesis was normal in Slx2 knockout mice, these mice were fertile. Taken together, we showed that Slx2 itself is not an essential gene for mouse spermatogenesis and CRISPR/Cas9 technique could speed up the functional study of testis specific X-linked gene in vivo.

Fatal hepatic hemorrhage by peliosis hepatis in X-linked myotubular myopathy: a case report.

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Motoki, T; Fukuda, M; Nakano, T; Matsukage, S; Fukui, A; Akiyoshi, S; Hayashi, Y K; Ishii, E; Nishino, I

2013-11-01

We report a 5-year-old boy with X-linked myotubular myopathy complicated by peliosis hepatis. At birth, he was affected with marked generalized muscle hypotonia and weakness, which required permanent ventilatory support, and was bedridden for life. He died of acute fatal hepatic hemorrhage after using a mechanical in-exsufflator. Peliosis hepatis, defined as multiple, variable-sized, cystic blood-filled spaces through the liver parenchyma, was confirmed by autopsy. To avoid fatal hepatic hemorrhage by peliosis hepatis, routine hepatic function tests and abdominal imaging tests should be performed for patients with X-linked myotubular myopathy, especially at the time of using artificial respiration. Copyright © 2013 Elsevier B.V. All rights reserved.

Development of known-fate survival monitoring techniques for juvenile wild pigs (Sus scrofa)

Science.gov (United States)

David A. Keiter; John C. Kilgo; Mark A. Vukovich; Fred L. Cunningham; James C. Beasley

2017-01-01

Context. Wild pigs are an invasive species linked to numerous negative impacts on natural and anthropogenic ecosystems in many regions of the world. Robust estimates of juvenile wild pig survival are needed to improve population dynamics models to facilitate management of this economically and ecologically...

Clinical manifest x-linked recessive adrenoleukodystrophy in a female

DEFF Research Database (Denmark)

Jack, Gyda Hlin Skuladottir; Malm-Willadsen, Karolina; Frederiksen, Anja

2013-01-01

Adrenoleukodystrophy (ALD) is a rare X-linked inherited leukodystrophy with a reduced capacity for degradation of very long chain fatty acids (VLCFAs). The intracellular accumulation of VLCFA leads to demyelination in the central nervous system (CNS) and cell destruction in the adrenal glands. ALD...... examination revealed decreased sensitivity in the feet, particularly to touch. Deep tendon reflexes in the lower limbs were brisk, and Babinski's sign was present bilaterally. Multiple sclerosis (MS) was excluded, and all clinical and biochemical tests were normal. After two years of progressing symptoms...

X-linked ocular albinism in Blacks. Ocular albinism cum pigmento.

Science.gov (United States)

O'Donnell, F E; Green, W R; Fleischman, J A; Hambrick, G W

1978-07-01

X-linked ocular albinism can be an unsuspected cause of congenital nystagmus in blacks. In this study, eight of ten black ocular albinos from two kindreds had nonalbinotic, moderately pigmented fundi and no transillumination of the iris. We refer to this paradoxical condition as "ocular albinism cum pigmento." The only constant ophthalmoscopic feature was a foveal hypoplasia. Biopsy of clinically normal skin to demonstrate giant pigment granules is the most accurate means of diagnosis.

Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome

DEFF Research Database (Denmark)

Hertz, Jens Michael; Juncker, I; Persson, U

2001-01-01

, three in-frame deletions, four nonsense mutations, and six splice site mutations. Twenty-two of the mutations have not previously been reported. Furthermore, we found one non-pathogenic amino acid substitution, one rare variant in a non-coding region, and one polymorphism with a heterozygosity of 28...... of type IV-collagen. We performed mutation analysis of the COL4A5 gene by PCR-SSCP analysis of each of the 51 exons with flanking intronic sequences in 81 patients suspected of X-linked Alport syndrome including 29 clear X-linked cases, 37 cases from families with a pedigree compatible with X...

Juvenile Court Statistics - 1972.

Science.gov (United States)

Office of Youth Development (DHEW), Washington, DC.

This report is a statistical study of juvenile court cases in 1972. The data demonstrates how the court is frequently utilized in dealing with juvenile delinquency by the police as well as by other community agencies and parents. Excluded from this report are the ordinary traffic cases handled by juvenile court. The data indicate that: (1) in…

Juvenile Court Statistics, 1974.

Science.gov (United States)

Corbett, Jacqueline; Vereb, Thomas S.

This report presents information on juvenile court processing of youth in the U.S. during 1974. It is based on data gathered under the National Juvenile Court Statistical Reporting System. Findings can be summarized as follows: (1) 1,252,700 juvenile delinquency cases, excluding traffic offenses, were handled by courts in the U.S. in 1974; (2) the…

Foraging behaviour of juvenile female New Zealand sea lions (Phocarctos hookeri in contrasting environments.

Directory of Open Access Journals (Sweden)

Elaine S Leung

Full Text Available Foragers can show adaptive responses to changes within their environment through morphological and behavioural plasticity. We investigated the plasticity in body size, at sea movements and diving behaviour of juvenile female New Zealand (NZ sea lions (Phocarctos hookeri in two contrasting environments. The NZ sea lion is one of the rarest pinnipeds in the world. Most of the species is based at the subantarctic Auckland Islands (AI; considered to be marginal foraging habitat, with a recolonizing population on the Otago Peninsula, NZ mainland (considered to be more optimal habitat. We investigated how juvenile NZ sea lions adjust their foraging behaviour in contrasting environments by deploying satellite-linked platform transmitting terminals (PTTs and time-depth recorders (TDRs on 2-3 year-old females at AI (2007-2010 and Otago (2009-2010. Juvenile female NZ sea lions exhibited plasticity in body size and behaviour. Otago juveniles were significantly heavier than AI juveniles. Linear mixed effects models showed that study site had the most important effect on foraging behaviour, while mass and age had little influence. AI juveniles spent more time at sea, foraged over larger areas, and dove deeper and longer than Otago juveniles. It is difficult to attribute a specific cause to the observed contrasts in foraging behaviour because these differences may be driven by disparities in habitat/prey characteristics, conspecific density levels or interseasonal variation. Nevertheless, the smaller size and increased foraging effort of AI juveniles, combined with the lower productivity in this region, support the hypothesis that AI are less optimal habitat than Otago. It is more difficult for juveniles to forage in suboptimal habitats given their restricted foraging ability and lower tolerance for food limitation compared to adults. Thus, effective management measures should consider the impacts of low resource environments, along with changes that can

THE STUDY OF FEATURES OF GUILT OF JUVENILE OFFENDERS IN THE CONTEXT OF JUVENILE JUSTICE

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Natalija Vladimirovna Galkina

2015-08-01

Full Text Available The article is devoted to the results of empirical studies of the experiences of guilt of juvenile offenders in the context of juvenile justice where a minor appears as the subject of legal relations. Restorative approach of juvenile justice is based on an admission of guilt to the victim. In connection with it, the research of features of the guilt of minors who have committed an offence and the conditions for the development of the subjectivity will enhance understanding of the possibilities of restorative juvenile justice system in the prevention of juvenile delinquency.Thus, the results of empirical research presented in the article are important for determining of the psychological bases of realization of rehabilitation programs in the context of juvenile justice. In particular, the results are important for the organization and conduct of psychological work to overcome the psychological barriers in the behavior of juveniles having inherently maladaptive guilt and destructive psychological defense mechanisms.

X-linked acrogigantism syndrome: clinical profile and therapeutic responses.

Science.gov (United States)

Beckers, Albert; Lodish, Maya Beth; Trivellin, Giampaolo; Rostomyan, Liliya; Lee, Misu; Faucz, Fabio R; Yuan, Bo; Choong, Catherine S; Caberg, Jean-Hubert; Verrua, Elisa; Naves, Luciana Ansaneli; Cheetham, Tim D; Young, Jacques; Lysy, Philippe A; Petrossians, Patrick; Cotterill, Andrew; Shah, Nalini Samir; Metzger, Daniel; Castermans, Emilie; Ambrosio, Maria Rosaria; Villa, Chiara; Strebkova, Natalia; Mazerkina, Nadia; Gaillard, Stéphan; Barra, Gustavo Barcelos; Casulari, Luis Augusto; Neggers, Sebastian J; Salvatori, Roberto; Jaffrain-Rea, Marie-Lise; Zacharin, Margaret; Santamaria, Beatriz Lecumberri; Zacharieva, Sabina; Lim, Ee Mun; Mantovani, Giovanna; Zatelli, Maria Chaira; Collins, Michael T; Bonneville, Jean-François; Quezado, Martha; Chittiboina, Prashant; Oldfield, Edward H; Bours, Vincent; Liu, Pengfei; W de Herder, Wouter; Pellegata, Natalia; Lupski, James R; Daly, Adrian F; Stratakis, Constantine A

2015-06-01

X-linked acrogigantism (X-LAG) is a new syndrome of pituitary gigantism, caused by microduplications on chromosome Xq26.3, encompassing the gene GPR101, which is highly upregulated in pituitary tumors. We conducted this study to explore the clinical, radiological, and hormonal phenotype and responses to therapy in patients with X-LAG syndrome. The study included 18 patients (13 sporadic) with X-LAG and microduplication of chromosome Xq26.3. All sporadic cases had unique duplications and the inheritance pattern in two families was dominant, with all Xq26.3 duplication carriers being affected. Patients began to grow rapidly as early as 2-3 months of age (median 12 months). At diagnosis (median delay 27 months), patients had a median height and weight standard deviation scores (SDS) of >+3.9 SDS. Apart from the increased overall body size, the children had acromegalic symptoms including acral enlargement and facial coarsening. More than a third of cases had increased appetite. Patients had marked hypersecretion of GH/IGF1 and usually prolactin, due to a pituitary macroadenoma or hyperplasia. Primary neurosurgical control was achieved with extensive anterior pituitary resection, but postoperative hypopituitarism was frequent. Control with somatostatin analogs was not readily achieved despite moderate to high levels of expression of somatostatin receptor subtype-2 in tumor tissue. Postoperative use of adjuvant pegvisomant resulted in control of IGF1 in all five cases where it was employed. X-LAG is a new infant-onset gigantism syndrome that has a severe clinical phenotype leading to challenging disease management. © 2015 Society for Endocrinology.

Juvenile Justice in Mexico

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Martha Frías Armenta

2014-08-01

Full Text Available The first tribunal in Mexico was established in the central state of San Luis Potosi in 1926. The Law Regarding Social Prevention and Juvenile Delinquency for the Federal District and Mexican territories was promulgated in 1928. In 2005, Article 18 of the Mexican Constitution was modified to establish a comprehensive system (“Sistema Integral de justicia” in Spanish of justice for juveniles between 12 and 18 years old who had committed a crime punishable under criminal law. Its objective was to guarantee juveniles all the due process rights established for adults, in addition to the special ones recognized for minors. The constitutional reform also provides a framework that includes special tribunals as well as alternative justice options for juveniles. With these reforms, institutionalization of minors was to be considered an extreme measure applicable only to felonies and to juveniles older than 14. In 2006, all states within the Mexican federation enacted the “Law of justice for adolescents”. This system, at both the federal and state levels, formalizes a new global paradigm with regard to the triangular relationship between children, the State and the Law. It recognizes that children are also bearers of the inherent human rights recognized for all individuals, instead of simply objects in need of protection. However, despite formally aligning Mexican juvenile justice law with the Convention on the Rights of the Child (CRC, issues of actual substantive rights remained and new ones have appeared. For example, juveniles younger than 14 who have not committed a felony are released from institutions without any rehabilitation or treatment options, and alternative forms of justice were included without evaluating their possibilities of application or their conditions for success. In addition, the economic status of most juvenile detainees continues to be one of the most important determining factors in the administration of justice

Linkage and candidate gene analysis of X-linked familial exudative vitreoretinopathy.

Science.gov (United States)

Shastry, B S; Hejtmancik, J F; Plager, D A; Hartzer, M K; Trese, M T

1995-05-20

Familial exudative vitreoretinopathy (FEVR) is a hereditary eye disorder characterized by avascularity of the peripheral retina, retinal exudates, tractional detachment, and retinal folds. The disorder is most commonly transmitted as an autosomal dominant trait, but X-linked transmission also occurs. To initiate the process of identifying the gene responsible for the X-linked disorder, linkage analysis has been performed with three previously unreported three- or four-generation families. Two-point analysis showed linkage to MAOA (Zmax = 2.1, theta max = 0) and DXS228 (Zmax = 0.5, theta max = 0.11), and this was further confirmed by multipoint analysis with these same markers (Zmax = 2.81 at MAOA), which both lie near the gene causing Norrie disease. Molecular genetic analysis further reveals a missense mutation (R121W) in the third exon of the Norrie's disease gene that perfectly cosegregates with the disease through three generations in one family. This mutation was not detected in the unaffected family members and six normal unrelated controls, suggesting that it is likely to be the pathogenic mutation. Additionally, a polymorphic missense mutation (H127R) was detected in a severely affected patient.

Molecular characterization of a novel X-linked syndrome involving developmental delay and deafness.

Science.gov (United States)

Hildebrand, Michael S; de Silva, Michelle G; Tan, Tiong Yang; Rose, Elizabeth; Nishimura, Carla; Tolmachova, Tanya; Hulett, Joanne M; White, Susan M; Silver, Jeremy; Bahlo, Melanie; Smith, Richard J H; Dahl, Hans-Henrik M

2007-11-01

X-linked syndromes associated with developmental delay and sensorineural hearing loss (SNHL) have been characterized at the molecular level, including Mohr-Tranebjaerg syndrome and Norrie disease. In this study we report on a novel X-linked recessive, congenital syndrome in a family with developmental delay and SNHL that maps to a locus associated with mental retardation (MR) for which no causative gene has been identified. The X-linked recessive inheritance and congenital nature of the syndrome was confirmed by detailed clinical investigation and the family history. Linkage mapping of the X-chromosome was conducted to ascertain the disease locus and candidate genes were screened by direct sequencing and STRP analysis. The recessive syndrome was mapped to Xp11.3-q21.32 and a deletion was identified in a regulatory region upstream of the POU3F4 gene in affected family members. Since mutations in POU3F4 cause deafness at the DFN3 locus, the deletion is the likely cause of the SNHL in this family. The choroideremia (CHM) gene was also screened and a novel missense change was identified. The alteration changes the serine residue at position 89 in the Rab escort 1 protein (REP-1) to a cysteine (S89C). Prenylation of Rab proteins was investigated in patients and the location of REP-1 expression in the brain determined. However, subsequent analysis revealed that this change in CHM was polymorphic having no effect on REP-1 function. Although the causative gene at the MR locus in this family has not been identified, there are a number of genes involved in syndromic and nonsyndromic forms of MR that are potential candidates. Copyright 2007 Wiley-Liss, Inc.

Juvenile mammary papillomatosis; Papilomatosis juvenil mamaria

Energy Technology Data Exchange (ETDEWEB)

Alvarez, M.; Jimenez, A. V. [Hospital Reina Sofia. Cordoba (Spain)

2001-07-01

Juvenile mammary papillomatosis is a benign proliferative disease of young patients, generally under 30 years of age. The most frequent clinical presentation is the existence of an elastic and mobile lymph node of the breast. Anatomopathologically, it is characterized because it presents ductal epithelial hyperplasia, sometimes with marked atypia, and there are numerous cysts having different sizes among the findings. It has been associated with an increase in the incidence of breast cancer, both in the patient herself as well as her family. We review the literature on the subject and present the mammographic and ultrasonographic findings of a 22 year old woman diagnosed of juvenile mammary papillomatosis. (Author) 12 refs.

7 Tesla proton magnetic resonance spectroscopic imaging in adult X-linked adrenoleukodystrophy

Science.gov (United States)

Ratai, Eva; Kok, Trina; Wiggins, Christopher; Wiggins, Graham; Grant, Ellen; Gagoski, Borjan; O'Neill, Gilmore; Adalsteinsson, Elfar; Eichler, Florian

2010-01-01

Background Adult patients with X-linked adrenoleukodystrophy (X-ALD) remain at risk for progressive neurological deterioration. Phenotypes vary in their pathology, ranging from axonal degeneration to inflammatory demyelination. The severity of symptoms is poorly explained by conventional imaging. Objective To test the hypothesis that neurochemistry in normal appearing brain differs among adult phenotypes of X-ALD, and that neurochemical changes correlate with the severity of symptoms. Patients and Methods Using a 7 Tesla scanner we performed structural and proton MRSI in 13 adult patients with X-ALD, including 4 patients with adult cerebral ALD (ACALD), 5 with adrenomyeloneuropathy (AMN) and 4 female heterozygotes. Studies were also performed in nine healthy controls. Results Among adult X-ALD phenotypes, MI/Cr was 46% higher and Cho/Cr 21% higher in normal appearing white matter of ACALD compared to AMN (p Tesla proton MRSI reveals differences in the neurochemistry of ACALD but is unable to distinguish AMN from female heterozygotes. MI/Cr correlates with the severity of the symptoms and may be a meaningful biomarker in adult X-ALD. PMID:19001168

X-linked gene transcription patterns in female and male in vivo, in vitro and cloned porcine individual blastocysts.

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Chi-Hun Park

Full Text Available To determine the presence of sexual dimorphic transcription and how in vitro culture environments influence X-linked gene transcription patterns in preimplantation embryos, we analyzed mRNA expression levels in in vivo-derived, in vitro-fertilized (IVF, and cloned porcine blastocysts. Our results clearly show that sex-biased expression occurred between female and male in vivo blastocysts in X-linked genes. The expression levels of XIST, G6PD, HPRT1, PGK1, and BEX1 were significantly higher in female than in male blastocysts, but ZXDA displayed higher levels in male than in female blastocysts. Although we found aberrant expression patterns for several genes in IVF and cloned blastocysts, similar sex-biased expression patterns (on average were observed between the sexes. The transcript levels of BEX1 and XIST were upregulated and PGK1 was downregulated in both IVF and cloned blastocysts compared with in vivo counterparts. Moreover, a remarkable degree of expression heterogeneity was observed among individual cloned embryos (the level of heterogeneity was similar in both sexes but only a small proportion of female IVF embryos exhibited variability, indicating that this phenomenon may be primarily caused by faulty reprogramming by the somatic cell nuclear transfer (SCNT process rather than in vitro conditions. Aberrant expression patterns in cloned embryos of both sexes were not ameliorated by treatment with Scriptaid as a potent HDACi, although the blastocyst rate increased remarkably after this treatment. Taken together, these results indicate that female and male porcine blastocysts produced in vivo and in vitro transcriptional sexual dimorphisms in the selected X-linked genes and compensation of X-linked gene dosage may not occur at the blastocyst stage. Moreover, altered X-linked gene expression frequently occurred in porcine IVF and cloned embryos, indicating that X-linked gene regulation is susceptible to in vitro culture and the SCNT process

Progression of abnormalities in adrenomyeloneuropathy and neurologically asymptomatic X-linked adrenoleukodystrophy despite treatment with "Lorenzo's oil"

NARCIS (Netherlands)

van Geel, B. M.; Assies, J.; Haverkort, E. B.; Koelman, J. H.; Verbeeten, B.; Wanders, R. J.; Barth, P. G.

1999-01-01

OBJECTIVES: X-linked adrenoleukodystrophy (X-ALD) is an inherited disorder of peroxisomal fatty acid oxidation, biochemically characterised by the accumulation of saturated very long chain fatty acids (VLCFAs), particularly hexacosanoic acid (C26:0). Dietary treatment with a 4:1 mixture of

Cultivo in vivo y método de almacenamiento para juveniles infectivos de Steinernema feltiae (Rhabdita: Steinernematidae Cultivation in vivo and method of storage for infective juveniles of Steinernema feltiae (Rhabdita: Stenemematidae

Directory of Open Access Journals (Sweden)

Sáenz Adriana

2000-12-01

Full Text Available Steinemema feltiae, es un entomonemátodo que afecta principalmente plagas asociadas al suelo, su ciclo tiene dos generaciones y se obtiene un gran número de juveniles infectivos (J3 en cultivos in vivo, utilizando insectos hospederos. Por ello, de acuerdo a estas caracteristicas se evalúo la producción de J3 a partir de suspensiones
ajustadas de 100, 300, 500, 700 y 1000 J3 en larvas de último instar de la polilla mayor de las colmenas Galleria mellonella y polilla menor de las colmenas Achroia grisella, además de almacenar concentraciones de 10,000,30,000 y 50,000 J3 en suelo esterilizado, pasteurizado y natural -sin tratamiento- por seis meses, para determinar la viabilidad y patogenicidad de los juveniles infectivos. El diseño experimental utilizado para el cultivo in vivo correspondió
a un diseño completamente al azar con arreglo factorial de 3x6 con diez repeticiones, para G. mellonella y un diseño completamente alzar con seis tratamientos y 10 repeticiones para A. grisella. En cuanto al diseño utilizado para almacenamiento, correspondió a un diseño completamente al azar con arreglo factorial de 3x3 con submuestreo. Los resultados obtenidos del cultivo in vivo, presentan diferencias en tamaño/peso de larvas de la polilla mayor de las colmenas y la producción de juveniles infectivos, siendo el tamaño
pequeño el de menor producción con 510,55 13/larvas respecto al de los otros dos tamaños. EnA. grisella, no existen diferencias significadas entre las concentraciones y la cantidad de juveniles infectivos cosechados. En cuanto a la sobrevivencia de los juveniles almacenados en suelo presenta diferencias significativas en concentración y tiempo de almacenamiento, además el tratamiento al suelo no influye en la sobrevivencia de los 13. Sin embargo recuperar los 13 a partir de esta forma de almacenamiento es baja, no obstante, la patogenicidad de los 13 recuperados es superior en suelo pasteurizado que en los

Juvenile giant fibroadenoma

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Vipul Yagnik

2011-07-01

Full Text Available Fibroadenomas are benign solid tumor associated with aberration of normal lobular development. Juvenile giant fibroadenoma is usually single and >5 cm in size /or >500 gms in weight. Important differential diagnoses are: phyllodes tumor and juvenile gigantomastia. Simple excision is the treatment of choice.

Juvenile corals can acquire more carbon from high-performance algal symbionts

Science.gov (United States)

Cantin, N. E.; van Oppen, M. J. H.; Willis, B. L.; Mieog, J. C.; Negri, A. P.

2009-06-01

Algal endosymbionts of the genus Symbiodinium play a key role in the nutrition of reef building corals and strongly affect the thermal tolerance and growth rate of the animal host. This study reports that 14C photosynthate incorporation into juvenile coral tissues was doubled in Acropora millepora harbouring Symbiodinium C1 compared with juveniles from common parentage harbouring Symbiodinium D in a laboratory experiment. Rapid light curves performed on the same corals revealed that the relative electron transport rate of photosystem II (rETRMAX) was 87% greater in Symbiodinium C1 than in Symbiodinium D in hospite. The greater relative electron transport through photosystem II of Symbiodinium C1 is positively correlated with increased carbon delivery to the host under the applied experimental conditions ( r 2 = 0.91). This may translate into a competitive advantage for juveniles harbouring Symbiodinium C1 under certain field conditions, since rapid early growth typically limits mortality. Both symbiont types exhibited severe reductions in 14C incorporation during a 10-h exposure to the electron transport blocking herbicide diuron (DCMU), confirming the link between electron transport through PSII and photosynthate incorporation within the host tissue. These findings advance the current understanding of symbiotic relationships between corals and their symbionts, providing evidence that enhanced growth rates of juvenile corals may result from greater translocation of photosynthates from Symbiodinium C1.

Linking larval history to juvenile demography in the bicolor damselfish Stegastes partitus (Perciformes:Pomacentridae

Directory of Open Access Journals (Sweden)

Richard S Nemeth

2005-05-01

Full Text Available Otolith-based reconstructions of daily larval growth increments were used to examine the effect of variation in larval growth on size and age at settlement and post-settlement growth,survival and habitat preferences of juvenile bicolor damselfish (Stegastes partitus Poey.During August 1992 and 1994,newly settled S. partitus were collected from Montastraea coral heads and Porites rubble piles in Tague Bay,St.Croix,U.S. Virgin Islands (17 °45 ’ N,64 °42 ’ W.Daily lapillar otolith increments from each fish were counted and measured with Optimas image analysis software.S.partitus pelagic larval duration was 23.7 d in 1992 (n =70and 24.6 d in 1994 (n =38and larval age at settlement averaged 13.0 mm total length both years.Analysis of daily otolith increments demonstrated that variation in larval growth rates and size and age at settlement had no detectable effect on post-settlement survivorship but that larger larvae showed a preference for Montastraea coral at settlement.Late larval and early juvenile growth rates showed a significant positive relationship indicating that growth patterns established during the planktonic stage can span metamorphosis and continue into the benthic juvenile phase.Larval growth rates during the first two weeks post-hatching also had a strong effect on age to developmental competence (ability to undergo metamorphosisin both 1992 and 1994 with the fastest growing larvae being 8 d younger and 0.8 mm smaller at settlement than the slowest growing larvae.These differential growth rates in early stage larvae established trajectories toward larval developmental competence and may prove important in biogeographical studies of larval dispersal.Reconstruyendo aumentos diarios de otolitos se compará la variación en crecimiento larval sobre el tamaño y la edad de asentamiento,y el crecimiento post-acentamiento, sobrevivencia y preferencia de hábitat,del pez damisela bicolor (Stegastes partitus Poeyjoven.En agosto de 1992

Prenatal Correction of X-Linked Hypohidrotic Ectodermal Dysplasia.

Science.gov (United States)

Schneider, Holm; Faschingbauer, Florian; Schuepbach-Mallepell, Sonia; Körber, Iris; Wohlfart, Sigrun; Dick, Angela; Wahlbuhl, Mandy; Kowalczyk-Quintas, Christine; Vigolo, Michele; Kirby, Neil; Tannert, Corinna; Rompel, Oliver; Rascher, Wolfgang; Beckmann, Matthias W; Schneider, Pascal

2018-04-26

Genetic deficiency of ectodysplasin A (EDA) causes X-linked hypohidrotic ectodermal dysplasia (XLHED), in which the development of sweat glands is irreversibly impaired, an condition that can lead to life-threatening hyperthermia. We observed normal development of mouse fetuses with Eda mutations after they had been exposed in utero to a recombinant protein that includes the receptor-binding domain of EDA. We administered this protein intraamniotically to two affected human twins at gestational weeks 26 and 31 and to a single affected human fetus at gestational week 26; the infants, born in week 33 (twins) and week 39 (singleton), were able to sweat normally, and XLHED-related illness had not developed by 14 to 22 months of age. (Funded by Edimer Pharmaceuticals and others.).

X-linked deafness with stapes gusher in females

International Nuclear Information System (INIS)

Papadaki, E.; Prassopoulos, P.; Bizakis, J.; Karampekios, S.; Papadakis, H.; Gourtsoyiannis, N.

1998-01-01

A 22-year-old woman presented with severe mixed hearing loss and a flow of cerebrospinal fluid in the middle ear during stapes surgery (stapes gusher). HRCT of the temporal bones showed characteristic abnormalities of the inner ear (bulbous dilatation of the lateral portion of the internal acoustic meatus with incomplete separation from the cochlea, and widening of the first part of the facial nerve canal) described in X-linked progressive mixed deafness with stapes gusher. The evaluation of the patient's family revealed a sister with the same clinical history and identical HRCT findings, and 11 normal male relatives. This is the first report with typical findings of this entity that affects only female members of a family, suggesting another type of inheritance

Recurrent Anion Gap Acidosis: An Unusual Presentation of X-Linked Adrenoleukodystrophy in a Five-year-old Male.

Science.gov (United States)

Schwab, Joel; Pena, Loren; Sigman, Laura; Waggoner, Darrel

2010-01-01

We are presenting a five-year-old male with recurrent anion gap acidosis. During his last admission, it was detected that he had elevated VLCFA and the evaluation discovered that he had X-linked Adrenooleukodystrophy. He had the Addisonian only phenotype without any clinical or radiographic CNS findings. We were unable to find any other reports of this presentation of ALD. If the work-up of recurrent anion gap acidosis does not uncover an etiology, X-linked ALD should be considered in the differential diagnosis.

Juvenile Idiopathic Arthritis

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Kenan Barut

2017-04-01

Full Text Available Juvenile idiopathic arthritis is the most common chronic rheumatic disease of unknown aetiology in childhood and predominantly presents with peripheral arthritis. The disease is divided into several subgroups, according to demographic characteristics, clinical features, treatment modalities and disease prognosis. Systemic juvenile idiopathic arthritis, which is one of the most frequent disease subtypes, is characterized by recurrent fever and rash. Oligoarticular juvenile idiopathic arthritis, common among young female patients, is usually accompanied by anti-nuclear antibodie positivity and anterior uveitis. Seropositive polyarticular juvenile idiopathic arthritis, an analogue of adult rheumatoid arthritis, is seen in less than 10% of paediatric patients. Seronegative polyarticular juvenile idiopathic arthritis, an entity more specific for childhood, appears with widespread large- and small-joint involvement. Enthesitis-related arthritis is a separate disease subtype, characterized by enthesitis and asymmetric lower-extremity arthritis. This disease subtype represents the childhood form of adult spondyloarthropathies, with human leukocyte antigen-B27 positivity and uveitis but commonly without axial skeleton involvement. Juvenile psoriatic arthritis is characterized by a psoriatic rash, accompanied by arthritis, nail pitting and dactylitis. Disease complications can vary from growth retardation and osteoporosis secondary to treatment and disease activity, to life-threatening macrophage activation syndrome with multi-organ insufficiency. With the advent of new therapeutics over the past 15 years, there has been a marked improvement in juvenile idiopathic arthritis treatment and long-term outcome, without any sequelae. The treatment of juvenile idiopathic arthritis patients involves teamwork, including an experienced paediatric rheumatologist, an ophthalmologist, an orthopaedist, a paediatric psychiatrist and a physiotherapist. The primary goals

Juvenile Ossifying Fibroma of the Mandible: a Case Report

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Bahar Keles

2010-04-01

Full Text Available Background: Fibro-osseous lesions of the jaws, including juvenile ossifying fibroma, pose diagnostic and therapeutic difficulties due to their clinical, radiological and histological variability. The aim of this study was to report the outcome of a 9 years old girl with diagnosed juvenile ossifying fibroma treatment.Methods: A 9 years old girl presented with a 6 x 8 cm sized hard fixed tumour on right ramus and corpus of the mandible. On the radiological examination tumour showed an irregular but well bordered, unilocular and expansive lesion on the right corpus and ramus of the mandible. There was no teeth displacement or teeth root resorbtion. Microscopically, the tumour had trabeculae, fibrillary osteoid and woven bone. After the clinical, radiological (panoramic radiography, computed tomography and magnetic resonance imaging and histologic analysis it was diagnosed juvenile ossifying fibroma. In the history of the patient there has been an acute lymphocytic leukaemia in the remission for 3 years.Results: Because of large size of mandibular tumour, resultant expansion and destruction of mandibular cortex, the patient underwent right hemimandibulectomy using transmandibular approach. There was no recurrence or complications for two years follow-up.Conclusions: Although juvenile ossifying fibroma is an uncommon clinical entity, its aggressive local behaviour and high recurrence rate means that it is important to make an early diagnosis, apply the appropriate treatment and, especially, follow-up the patient over the long-term.

Mechanical design of ultraprecision weak-link stages for nanometer-scale x-ray imaging

Energy Technology Data Exchange (ETDEWEB)

Shu, D [APS Engineering Support Division, Argonne National Laboratory, Argonne, IL 60439 (United States); Maser, J, E-mail: shu@aps.anl.go [Center for Nanoscale Materials, Argonne National Laboratory, Argonne, IL 60439 (United States)

2009-09-01

A nanopositioning diagnostic setup has been built to support the Argonne Center for Nanoscale Materials (CNM) nanoprobe instrument commissioning process at the APS. Its laser Doppler interferometer system provides subnanometer positioning diagnostic resolution with large dynamic range. A set of original APS designed ultraprecision PZT-driven weak-link stages with high-stiffness motor-driven stages has been tested with this diagnostic setup. In this paper we present a preliminary test result of the ultraprecision weak-link stage system developed for the CNM hard x-ray nanoprobe instrument at APS sector 26. A test result for a novel laminar weak-link mechanism with sub-centimeter travel range and sub-nanometer positioning resolution is also introduced in this paper as a future work.

Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation.

NARCIS (Netherlands)

Kalscheuer, V.M.M.; Freude, K.; Musante, L.; Jensen, L.R.; Yntema, H.G.; Gecz, J.; Sefiani, A.; Hoffmann, K.; Moser, B.; Haas, S.; Gurok, U.; Haesler, S.; Aranda, B.; Nshedjan, A.; Tzschach, A.; Hartmann, N.; Roloff, T.C.; Shoichet, S.; Hagens, O.; Tao, J.; Bokhoven, J.H.L.M. van; Turner, G.; Chelly, J.; Moraine, C.; Fryns, J.P.; Nuber, U.; Hoeltzenbein, M.; Scharff, C.; Scherthan, H.; Lenzner, S.; Hamel, B.C.J.; Schweiger, S.; Ropers, H.H.

2003-01-01

We found mutations in the gene PQBP1 in 5 of 29 families with nonsyndromic (MRX) and syndromic (MRXS) forms of X-linked mental retardation (XLMR). Clinical features in affected males include mental retardation, microcephaly, short stature, spastic paraplegia and midline defects. PQBP1 has previously

Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

DEFF Research Database (Denmark)

Kalscheuer, Vera M; Freude, Kristine; Musante, Luciana

2003-01-01

We found mutations in the gene PQBP1 in 5 of 29 families with nonsyndromic (MRX) and syndromic (MRXS) forms of X-linked mental retardation (XLMR). Clinical features in affected males include mental retardation, microcephaly, short stature, spastic paraplegia and midline defects. PQBP1 has previou...

Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

NARCIS (Netherlands)

Kalscheuer, VM; Freude, K; Musante, L; Jensen, LR; Yntema, HG; Gecz, J; Sefiani, A; Hoffmann, K; Moser, B; Haas, S; Gurok, U; Haesler, S; Aranda, B; Nshedjan, A; Tzschach, A; Hartmann, N; Roloff, TC; Shoichet, S; Hagens, O; Tao, J; van Bokhoven, H; Turner, G; Chelly, J; Moraine, C; Fryns, JP; Nuber, U; Hoeltzenbein, M; Scharff, C; Scherthan, H; Lenzner, S; Hamel, BCJ; Schweiger, S; Ropers, Hans-Hilger

2003-01-01

We found mutations in the gene PQBP1 in 5 of 29 families with nonsyndromic (MRX) and syndromic (MRXS) forms of X-linked mental retardation (XLMR). Clinical features in affected males include mental retardation, microcephaly, short stature, spastic paraplegia and midline defects. PQBP1 has previously

Evidence for increased SOX3 dosage as a risk factor for X-linked hypopituitarism and neural tube defects.

Science.gov (United States)

Bauters, Marijke; Frints, Suzanna G; Van Esch, Hilde; Spruijt, Liesbeth; Baldewijns, Marcella M; de Die-Smulders, Christine E M; Fryns, Jean-Pierre; Marynen, Peter; Froyen, Guy

2014-08-01

Genomic duplications of varying lengths at Xq26-q27 involving SOX3 have been described in families with X-linked hypopituitarism. Using array-CGH we detected a 1.1 Mb microduplication at Xq27 in a large family with three males suffering from X-linked hypopituitarism. The duplication was mapped from 138.7 to 139.8 Mb, harboring only two annotated genes, SOX3 and ATP11C, and was shown to be a direct tandem copy number gain. Unexpectedly, the microduplication did not fully segregate with the disease in this family suggesting that SOX3 duplications have variable penetrance for X-linked hypopituitarism. In the same family, a female fetus presenting with a neural tube defect was also shown to carry the SOX3 copy number gain. Since we also demonstrated increased SOX3 mRNA levels in amnion cells derived from an unrelated t(X;22)(q27;q11) female fetus with spina bifida, we propose that increased levels of SOX3 could be a risk factor for neural tube defects. © 2014 Wiley Periodicals, Inc.

Otolith Sr concentration analyzed by PIXE in Ariake estuary-dependent sea bass juveniles

International Nuclear Information System (INIS)

Ohta, Taro; Arai, Nobuaki; Tanaka, Masaru; Yoshida, Koji

1997-01-01

Japanese sea bass (Lateolabrax japonicus) is a typical euryhaline marine fish and frequently migrates from salt to freshwater environments during early life stages. We hypothesized that strontium concentrations in the otolith could be a useful index to examine freshwater entry because of its lower concentration in freshwater. Otoliths of Japanese sea bass juveniles collected in the Chikugo river and estuary were analyzed by Particle Induced X-ray Emission (PIXE) to see relationship between strontium concentration and ambient salinity. Strontium concentrations in otoliths of sea bass juveniles are significantly lower in the river samples than in brackish water samples. (author)

Discoid lupus erythematosus-like lesions in carriers of X-linked chronic granulomatous disease

NARCIS (Netherlands)

Sillevis Smitt, J. H.; Weening, R. S.; Krieg, S. R.; Bos, J. D.

1990-01-01

A questionnaire was sent to 16 carriers of the X-linked cytochrome-b558 negative variant of chronic granulomatous disease (CGD). Of the 15 who answered the questionnaire and from data of one additional case, 70% reported recurrent aphthous stomatitis and 63% had recurrent skin eruptions. Five of the

X-Linked Lymphoproliferative Disease Presenting as Pancytopenia in a 10-Month-Old Boy

Directory of Open Access Journals (Sweden)

S. Nicole Chadha

2010-01-01

Full Text Available X-linked lymphoproliferative disease, also known as Duncan's syndrome, is a rare genetic disorder that causes exaggerated immune responses to Epstein-Barr virus (EBV infection and often leads to death. Patient presentation varies but can include signs and symptoms typical of EBV, pancytopenia, and fulminant hepatitis.

Identification of Four Novel Synonymous Substitutions in the X-Linked Genes Neuroligin 3 and Neuroligin 4X in Japanese Patients with Autistic Spectrum Disorder

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Kumiko Yanagi

2012-01-01

Full Text Available Mutations in the X-linked genes neuroligin 3 (NLGN3 and neuroligin 4X (NLGN4X were first implicated in the pathogenesis of X-linked autism in Swedish families. However, reports of mutations in these genes in autism spectrum disorder (ASD patients from various ethnic backgrounds present conflicting results regarding the etiology of ASD, possibly because of genetic heterogeneity and/or differences in their ethnic background. Additional mutation screening study on another ethnic background could help to clarify the relevance of the genes to ASD. We scanned the entire coding regions of NLGN3 and NLGN4X in 62 Japanese patients with ASD by polymerase chain reaction-high-resolution melting curve and direct sequencing analyses. Four synonymous substitutions, one in NLGN3 and three in NLGN4X, were identified in four of the 62 patients. These substitutions were not present in 278 control X-chromosomes from unrelated Japanese individuals and were not registered in the database of Single Nucleotide Polymorphisms build 132 or in the Japanese Single Nucleotide Polymorphisms database, indicating that they were novel and specific to ASD. Though further analysis is necessary to determine the physiological and clinical importance of such substitutions, the possibility of the relevance of both synonymous and nonsynonymous substitutions with the etiology of ASD should be considered.

Aggressive tumor growth and clinical evolution in a patient with X-linked acro-gigantism syndrome.

OpenAIRE

Naves, Luciana A.; Daly, Adrian Francis; Dias, Luiz Augusto; Yuan, Bo; Zakir, Juliano Coelho Oliveira; Barra, Gustavo Barcellos; Palmeira, Leonor; Villa, Chiara; Trivellin, Giampaolo; Junior, Armindo Jreige; Neto, Florencio Figueiredo Cavalcante; Liu, Pengfei; Pellegata, Natalia S.; Stratakis, Constantine A.; Lupski, James R.

2016-01-01

X-linked acro-gigantism (X-LAG) syndrome is a newly described disease caused by microduplications on chromosome Xq26.3 leading to copy number gain of GPR101. We describe the clinical progress of a sporadic male X-LAG syndrome patient with an Xq26.3 microduplication, highlighting the aggressive natural history of pituitary tumor growth in the absence of treatment. The patient first presented elsewhere aged 5 years 8 months with a history of excessive growth for >2 years. His height was 163 cm,...

Unusual late presentation of X-linked chronic granulomatous disease in an adult female with a somatic mosaic for a novel mutation in CYBB

NARCIS (Netherlands)

Wolach, Baruch; Scharf, Yitshak; Gavrieli, Ronit; de Boer, Martin; Roos, Dirk

2005-01-01

Most patients with chronic granulomatous disease (CGD) have mutations in the X-linked CYBB gene that encodes gp91(phox), a component of the phagocyte NADPH oxidase. The resulting X-linked form of CGD is usually manifested in boys. Rarely, X-CGD is encountered in female carriers with extreme

Epstein-Barr virus induced hemophagocytic lymphohistiocytosis in X-linked lymphoproliferative disease

Directory of Open Access Journals (Sweden)

Senthilkumar Sankararaman

2014-01-01

Full Text Available X-linked lymphoproliferative disease (XLP is a rare, often fatal genetic disorder characterized by extreme vulnerability to Epstein-Barr virus (EBV. EBV-induced hemophagocytic lymphohistiocytosis (HLH is a known presentation in XLP. In EBV-induced HLH in XLP, the brain imaging findings in the acute phase include a non specific pattern. In this report, we highlight the magnetic resonance imaging and magnetic resonance spectroscopy findings in a child with EBV induced HLH in XLP.

Papilledema in the Setting of X-Linked Hypophosphatemic Rickets with Craniosynostosis

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Lora R. Dagi Glass

2011-12-01

Full Text Available Purpose: Introduction to the ophthalmic literature of an unusual cause of papilledema and subsequent optic atrophy: X-linked hypophosphatemic rickets (XLH. Methods: Case report of a 3-year-old female presenting with papilledema resulting from craniosynostosis secondary to XLH. Results: Early intervention with craniofacial surgery prevented the development of optic atrophy. Conclusion: Children with XLH should be screened for ophthalmic evidence of elevated intracranial pressure to aid early intervention and prevention of permanent loss of vision.

Imaging techniques in evaluation of juvenile angiofibroma with lateral extension in the pterygopalatine and infratemporal fossa

International Nuclear Information System (INIS)

Szymanska, A.; Pietura, R.; Drelich-Zbroja, A.; Trojanowski, P.

2004-01-01

Juvenile angiofibroma is a benign tumour arising in the nasopharynx and penetrating laterally into the pterygopalatine fossa, infratemporal fossa and orbit. Precise preoperative evaluation of the presence and extension of its lateral spread is crucial for choosing the best surgical approach and performing radical operation. The aim of the study was to assess usefulness of imaging methods in diagnosis and evaluation of lateral extension of juvenile angiofibroma. In a group of 39 patients operated on from 1973 to 2002 due to juvenile angiofibroma in 21 (54%) cases a lateral extension of the tumor was diagnosed. All patients underwent carotid angiography (CA) and lateral plain skull X-ray. Computed tomography (CT) was performed in 18,and magnetic resonance imaging (MRI) in 4 patients. In all cases the extension of the tumor and its lateral spread was verified during surgery. A widening of the pterygopalatine fossa on lateral plain X-ray was present in 13 (62%) patients. CT and MRI demonstrated the presence of lateral extension in all patients diagnosed with these methods. In 9 cases, lateral CA revealed dislodgement of the internal maxillary artery by the tumor in the pterygopalatine fossa. The presence of big lateral extension of the juvenile angiofibroma is demonstrated on lateral plain X-ray as anterior bowing of the posterior wall of the maxillary sinus (Holman-Miller sign). MRI shows better than CT the extent and margins of the tumor in soft tissues. Lateral CA shows dislodgement of the internal maxillary artery and its course in relation to the lateral extension of the tumor, which is important for surgical planning. (author)

Serum cholinesterase activity in infantile and juvenile spinal muscular atrophy.

Science.gov (United States)

Niebroj-Dobosz, I; Hausmanowa-Petrusewicz, I

1989-09-01

Serum acetylcholinesterase (AChE) and pseudocholinesterase (ChE) activity in infantile and juvenile spinal muscular atrophy (SMA) was determined. The total AChE activity was either normal or decreased in the childhood SMA (Type 1), the other SMA groups and disease controls (ALS, X-linked SMA). In the majority of SMA Type 1 cases (6/7 tested) an absence of the asymmetric A12 form was found. This was accompanied by changes in the other asymmetric and globular forms. The latter was, however, not specific for SMA Type 1 cases. The ChE activity was increased in the majority of SMA cases as well as disease controls. The asymmetric A12 ChE form was increased in all SMA Type 3 cases, the values of this form in SMA Type 1 was variable. A change in the ChE globular forms in SMA Type 1 and SMA Type 2 was a frequent finding. It is suggested that the absence of the asymmetric A12 AChE form in SMA Type 1 arises because of muscle cell immaturity and undeveloped muscle-nerve interactions. The reason of ChE changes is obscure.

Juvenile angiofibromer

DEFF Research Database (Denmark)

Thuesen, Anne Daugaard; Jakobsen, John; Nepper-Rasmussen, Jørgen

2005-01-01

Juvenile angiofibroma is a rare, benign, rich vascular tumor, and approximately one new case is diagnosed in Denmark each year. It sits in the foramen sphenopalatinum and occurs in boys from 14 to 25 years of age. The most frequent initial symptoms are nasal obstruction and epistaxis. Through...... the years, the treatment of juvenile angiofibroma has included many methods, including surgical excision, electrocoagulation, interstitial or external radiation therapy, cryosurgery, hormone administration and chemotherapy. Radiation, chemotherapy and surgery have proven to be the most effective treatments...

The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies

NARCIS (Netherlands)

D'Adamo, P.; Fassone, L.; Gedeon, A.; Janssen, E. A.; Bione, S.; Bolhuis, P. A.; Barth, P. G.; Wilson, M.; Haan, E.; Orstavik, K. H.; Patton, M. A.; Green, A. J.; Zammarchi, E.; Donati, M. A.; Toniolo, D.

1997-01-01

Barth syndrome (BTHS) is an X-linked disorder characterized clinically by the associated features of cardiac and skeletal myopathy, short stature, and neutropenia. The clinical manifestations of the disease are, in general, quite variable, but cardiac failure as a consequence of cardiac dilatation

Determinação do módulo de elasticidade da madeira juvenil e adulta de Pinus taeda por ultra-som Determination of the modulus of elasticity of juvenile and mature wood of Pinus taeda L.with ultrasonic method

Directory of Open Access Journals (Sweden)

Adriano W. Ballarin

2005-04-01

Full Text Available A madeira de Pinus sp. tem utilização crescente na indústria madeireira brasileira. O decréscimo constante do suprimento de árvores adultas com grandes diâmetros, provenientes de florestas naturais, tornou comum a produção de madeira em ciclos curtos, com grande proporção de madeira juvenil. Resultados de diversas pesquisas têm reportado que o módulo de elasticidade e a resistência a diferentes solicitações mecânicas são seriamente afetados pela presença de madeira juvenil. Este trabalho teve por objetivo determinar o módulo de elasticidade da madeira juvenil e adulta de Pinus taeda L. a partir da constante dinâmica C LL, obtida em ensaios não-destrutivos de ultra-som. A madeira de P. taeda era originária de plantios da Estação Experimental de Itapeva - SP, sendo amostrados seis indivíduos arbóreos com 34 anos de idade. Os corpos-de-prova (4 cm x 4 cm x 45 cm foram obtidos separadamente das regiões de madeira juvenil e adulta da prancha central, previamente submetida à secagem industrial (umidade final de 12%, para a determinação da constante dinâmica por meio de ensaios de ultra-som. Para avaliar a sensibilidade do método do ultra-som, os corpos-de-prova foram ensaiados destrutivamente à compressão paralela. Os resultados mostraram boa sensibilidade do método do ultra-som (R² » 0,90 na avaliação desse parâmetro mecânico da madeira juvenil e adulta.Pinus sp. wood has an increasing importance on supplying brazilian wood industry. The diminution of adult and large diameter trees supply deriving from natural tropical forests, became usual the production of wood on short rotation plantation, with considerable proportion of juvenil wood. Results from several researches have been demonstrated that MOE and mechanical strength are strongly affected by juvenile wood occurrence. This research was developed with the main objective of correlating dynamic modulus of elasticity (non-destructive ultrasound tests and MOE

Parenting and juvenile delinquency

NARCIS (Netherlands)

Hoeve, M.

2008-01-01

Juvenile delinquency is a noteworthy problem. This thesis addressed the association between parenting and juvenile delinquency by analyzing the concepts of parenting adopted in family research in relation to criminological concepts and measures of delinquent behavior. Four studies were conducted.

Craniofacial morphometric analysis of individuals with X-linked hypohidrotic ectodermal dysplasia.

Science.gov (United States)

Goodwin, Alice F; Larson, Jacinda R; Jones, Kyle B; Liberton, Denise K; Landan, Maya; Wang, Zhifeng; Boekelheide, Anne; Langham, Margaret; Mushegyan, Vagan; Oberoi, Snehlata; Brao, Rosalie; Wen, Timothy; Johnson, Ramsey; Huttner, Kenneth; Grange, Dorothy K; Spritz, Richard A; Hallgrímsson, Benedikt; Jheon, Andrew H; Klein, Ophir D

2014-09-01

Hypohidrotic ectodermal dysplasia (HED) is the most prevalent type of ectodermal dysplasia (ED). ED is an umbrella term for a group of syndromes characterized by missing or malformed ectodermal structures, including skin, hair, sweat glands, and teeth. The X-linked recessive (XL), autosomal recessive (AR), and autosomal dominant (AD) types of HED are caused by mutations in the genes encoding ectodysplasin (EDA1), EDA receptor (EDAR), or EDAR-associated death domain (EDARADD). Patients with HED have a distinctive facial appearance, yet a quantitative analysis of the HED craniofacial phenotype using advanced three-dimensional (3D) technologies has not been reported. In this study, we characterized craniofacial morphology in subjects with X-linked hypohidrotic ectodermal dysplasia (XLHED) by use of 3D imaging and geometric morphometrics (GM), a technique that uses defined landmarks to quantify size and shape in complex craniofacial morphologies. We found that the XLHED craniofacial phenotype differed significantly from controls. Patients had a smaller and shorter face with a proportionally longer chin and midface, prominent midfacial hypoplasia, a more protrusive chin and mandible, a narrower and more pointed nose, shorter philtrum, a narrower mouth, and a fuller and more rounded lower lip. Our findings refine the phenotype of XLHED and may be useful both for clinical diagnosis of XLHED and to extend understanding of the role of EDA in craniofacial development.

A recoding scheme for X-linked and pseudoautosomal loci to be used with computer programs for autosomal LOD-score analysis.

Science.gov (United States)

Strauch, Konstantin; Baur, Max P; Wienker, Thomas F

2004-01-01

We present a recoding scheme that allows for a parametric multipoint X-chromosomal linkage analysis of dichotomous traits in the context of a computer program for autosomes that can use trait models with imprinting. Furthermore, with this scheme, it is possible to perform a joint multipoint analysis of X-linked and pseudoautosomal loci. It is required that (1) the marker genotypes of all female nonfounders are available and that (2) there are no male nonfounders who have daughters in the pedigree. The second requirement does not apply if the trait locus is pseudoautosomal. The X-linked marker loci are recorded by adding a dummy allele to the males' hemizygous genotypes. For modelling an X-linked trait locus, five different liability classes are defined, in conjunction with a paternal imprinting model for male nonfounders. The formulation aims at the mapping of a diallelic trait locus relative to an arbitrary number of codominant markers with known genetic distances, in cases where a program for a genuine X-chromosomal analysis is not available. 2004 S. Karger AG, Basel.

Juvenile delinquency and correctional treatment in Britain

OpenAIRE

堀尾, 良弘; ホリオ, ヨシヒロ; Yoshihiro, Horio

2006-01-01

Japanese modernistic culture is influenced not a little from Britain. In looking at the Juvenile Law and the history of correctional treatment in Britain, understanding of today's juvenile delinquency and treatment deepen. Moreover, the background and issue of juvenile delinquency in Britain are also discussed. As a feature of the juvenile delinquency in Britain, the common field with Japan and the field peculiar to Britain became clear in each. It is common to the world that the juvenile del...

Juvenile prison in parallel legislation

Directory of Open Access Journals (Sweden)

Lutovac Mitar

2016-01-01

Full Text Available The need for punishment of juveniles occurred from the time when there was no clear line separating them from the adult criminal population. At the same time, the evolution of the juvenile punishment is not in itself involve substantial changes to their criminal status. On the contrary, the status of minors in society did not show serious differences regarding the status of young adults, as well as the adult elderly. On the other hand, on the ground of their punishment is recorded deviations that go in the direction of application of mild corporal punishment. Closing the minor was performed in a physically separate parts of the general penal institutions with the use of a lower degree of restrictions while serving juvenile prison. Due to the different treatment of minors during the evolution of their criminal status leads to their different treatment in comparative law. That is why we are witnessing the existence of numerous differences in the juvenile punishment in some countries in the world. On the European continent there is a wide range of different legal solutions when it comes to punishing juveniles. There are considerable differences in the procedure pronouncing juvenile prison and in particular penal treatment of juveniles in penitentiary institutions. For these reasons, the author has decided to show the basic statutory provisions in the part that relates to the issue of punishment of minors in the legislation of individual countries.

Inapparent lung involvement in patients with the subacute juvenile type of paracoccidioidomycosis

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A. Restrepo

1989-02-01

Full Text Available Three patients with the diagnosis of subacute juvenile paracoccidioidomycosis who, at the time of their first visit, had no signs or symptoms of lung involvement, were studied. Initially the diagnosis was confirmed by the observation of P. brasiliensis in biopsy material obtained from clinically involved lymphadenopathies. The lung X-rays done in all patients, did not reveal pathologic changes, although it was possible to observe and isolate the fungus from sputum samples obtained from the three patients. This fact reinforces the pulmonary genesis of the mycosis and proofs the existence of a pulmonary primary infection, even in patients with the juvenile manifestations, in whom the lung component is obscured by the predominant lymph node involvement.

Inherent X-Linked Genetic Variability and Cellular Mosaicism Unique to Females Contribute to Sex-Related Differences in the Innate Immune Response

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Zoltan Spolarics

2017-11-01

Full Text Available Females have a longer lifespan and better general health than males. Considerable number of studies also demonstrated that, after trauma and sepsis, females present better outcomes as compared to males indicating sex-related differences in the innate immune response. The current notion is that differences in the immuno-modulatory effects of sex hormones are the underlying causative mechanism. However, the field remains controversial and the exclusive role of sex hormones has been challenged. Here, we propose that polymorphic X-linked immune competent genes, which are abundant in the population are important players in sex-based immuno-modulation and play a key role in causing sex-related outcome differences following trauma or sepsis. We describe the differences in X chromosome (ChrX regulation between males and females and its consequences in the context of common X-linked polymorphisms at the individual as well as population level. We also discuss the potential pathophysiological and immune-modulatory aspects of ChrX cellular mosaicism, which is unique to females and how this may contribute to sex-biased immune-modulation. The potential confounding effects of ChrX skewing of cell progenitors at the bone marrow is also presented together with aspects of acute trauma-induced de novo ChrX skewing at the periphery. In support of the hypothesis, novel observations indicating ChrX skewing in a female trauma cohort as well as case studies depicting the temporal relationship between trauma-induced cellular skewing and the clinical course are also described. Finally, we list and discuss a selected set of polymorphic X-linked genes, which are frequent in the population and have key regulatory or metabolic functions in the innate immune response and, therefore, are primary candidates for mediating sex-biased immune responses. We conclude that sex-related differences in a variety of disease processes including the innate inflammatory response to injury

European green lizard (Lacerta viridis) personalities: Linking behavioural types to ecologically relevant traits at different ontogenetic stages.

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Bajer, Katalin; Horváth, Gergely; Molnár, Orsolya; Török, János; Garamszegi, László Zsolt; Herczeg, Gábor

2015-02-01

Consistent individual differences within (animal personality) and across (behavioural syndrome) behaviours became well recognized during the past decade. Nevertheless, our knowledge about the evolutionary and developmental mechanisms behind the phenomena is still incomplete. Here, we explored if risk-taking and exploration were consistent and linked to different ecologically relevant traits in wild-caught adult male European green lizards (Lacerta viridis) and in their 2-3 weeks old laboratory-reared offspring. Both adults and juveniles displayed animal personality, consistency being higher in juveniles. We found correlation between risk-taking and exploration (suggestive of a behavioural syndrome) only in adults. Juveniles were more explorative than adults. Large or ectoparasite-free adult males were more explorative than small or parasitized males. Juvenile females tended to be more risk-taking than males. Behaviour of fathers and their offspring did not correlate. We conclude that European green lizards show high behavioural consistency and age is an important determinant of its strength and links to traits likely affecting fitness. Copyright © 2014 Elsevier B.V. All rights reserved.

Bilateral, independent juvenile nasopharyngeal angiofibroma

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Mørkenborg, Marie-Louise; Frendø, M; Stavngaard, T

2015-01-01

BACKGROUND: Juvenile nasopharyngeal angiofibroma is a benign, vascular tumour that primarily occurs in adolescent males. Despite its benign nature, aggressive growth patterns can cause potential life-threatening complications. Juvenile nasopharyngeal angiofibroma is normally unilateral, originating...... from the sphenopalatine artery, but bilateral symptoms can occur if a large tumour extends to the contralateral side of the nasopharynx. This paper presents the first reported case of true bilateral extensive juvenile nasopharyngeal angiofibroma involving clinically challenging pre-surgical planning...... embolisation. Radical removal performed as one-step, computer-assisted functional endoscopic sinus surgery was performed. The follow-up period was uncomplicated. CONCLUSION: This case illustrates the importance of suspecting bilateral juvenile nasopharyngeal angiofibroma in patients presenting with bilateral...

Criminal Profiles of Violent Juvenile Sex and Violent Juvenile Non-Sex Offenders: An Explorative Longitudinal Study

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van Wijk, Anton Ph.; Mali, Bas R. F.; Bullens, Ruud A. R.; Vermeiren, Robert R.

2007-01-01

Few studies have longitudinally investigated the criminal profiles of violent juvenile sex and violent juvenile non-sex offenders. To make up for this lack, this study used police records of juveniles to determine the nature of the criminal profiles of violent sex offenders (n = 226) and violent non-sex offenders (n = 4,130). All offenders…

Multipoint linkage analysis in X-linked ocular albinism of the Nettleship-Falls type

NARCIS (Netherlands)

Bergen, A. A.; Samanns, C.; Schuurman, E. J.; van Osch, L.; van Dorp, D. B.; Pinckers, A. J.; Bakker, E.; Gal, A.; van Ommen, G. J.; Bleeker-Wagemakers, E. M.

1991-01-01

An extensive linkage analysis was performed by studying ten Xp22 loci in ten families segregating for X-linked ocular albinism of the Nettleship-Falls type (XOA). Linkage was confirmed between the XOA locus (OA1) and both DXS16 (theta max = 0.10, zeta max = 4.09) and DXS237 (theta max = 0.12, zeta

Juvenile morphology in baleen whale phylogeny.

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Tsai, Cheng-Hsiu; Fordyce, R Ewan

2014-09-01

Phylogenetic reconstructions are sensitive to the influence of ontogeny on morphology. Here, we use foetal/neonatal specimens of known species of living baleen whales (Cetacea: Mysticeti) to show how juvenile morphology of extant species affects phylogenetic placement of the species. In one clade (sei whale, Balaenopteridae), the juvenile is distant from the usual phylogenetic position of adults, but in the other clade (pygmy right whale, Cetotheriidae), the juvenile is close to the adult. Different heterochronic processes at work in the studied species have different influences on juvenile morphology and on phylogenetic placement. This study helps to understand the relationship between evolutionary processes and phylogenetic patterns in baleen whale evolution and, more in general, between phylogeny and ontogeny; likewise, this study provides a proxy how to interpret the phylogeny when fossils that are immature individuals are included. Juvenile individuals in the peramorphic acceleration clades would produce misleading phylogenies, whereas juvenile individuals in the paedomorphic neoteny clades should still provide reliable phylogenetic signals.

Autosomal-recessive and X-linked forms of hereditary motor and sensory neuropathy in childhood.

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Ouvrier, Robert; Geevasingha, Nimeshan; Ryan, Monique M

2007-08-01

The hereditary motor and sensory neuropathies (HMSNs, Charcot-Marie-Tooth neuropathies) are the most common degenerative disorders of the peripheral nervous system. In recent years a dramatic expansion has occurred in our understanding of the molecular basis and cell biology of the recessively inherited demyelinating and axonal neuropathies, with delineation of a number of new neuropathies. Mutations in some genes cause a wide variety of clinical, neurophysiologic, and pathologic phenotypes, rendering diagnosis difficult. The X-linked forms of HMSN represent at least 10%-15% of all HMSNs and have an expanded disease spectrum including demyelinating, intermediate, and axonal neuropathies, transient central nervous system (CNS) dysfunction, mental retardation, and hearing loss. This review presents an overview of the recessive and X-linked forms of HMSN observed in childhood, with particular reference to disease phenotype and neurophysiologic and pathologic abnormalities suggestive of specific diagnoses. These findings can be used by the clinician to formulate a differential diagnosis and guide targeted genetic testing.

Larval, pre-juvenile and juvenile development of Diapterus peruvianus (Perciformes: Gerreidae

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Sylvia Patricia Adelheid Jiménez Rosenberg

2003-06-01

Full Text Available The development of Diapterus peruvianus (Sauvage 1879 is based on 60 larvae collected in superficial tows made in Bahía Concepción, and on 16 prejuvenile and juvenile organisms collected in Bahía de La Paz, B. C. S., México, using a standard plankton net and a rectangular epibenthonic net, respectively. Larvae of D. peruvianus show three large blotches on the dorsum of the gut that can fuse together and give the appearance of one large continuous blotch. There are two to three pre-anal pigments and 16 post-anal pigments in the ventral midline; cephalic pigments are present from the postflexion stage, as well as a serrated preoperculum. The prejuvenile and juvenile organisms are distinguished by their body depth, the analfin formula, the serrated preoperculum and the base pigments in the dorsal and anal fins.El desarrollo de Diapterus peruvianus se analizó con base en 60 larvas recolectadas en Bahía Concepción y 16 pre-juveniles y juveniles recolectados en la Ensenada de La Paz, B. C. S. México, usando respectivamente, una red estándar de plancton en arrastres superficiales y una red epibentónica para arrastres de plancton. Las larvas presentan desde la pre-flexión tres manchas alargadas sobre la superficie dorsal de la masa visceral, que pueden unirse y dar apariencia de pigmentación continua, observándose hasta 16 pigmentos post-anales en la línea media ventral y de dos a tres pigmentos pre-anales; la pigmentación cefálica así como la forma aserrada del pre-opérculo característica del género, aparecen a partir de la post-flexión. Los organismos pre-juveniles y juveniles se distinguen por la profundidad del cuerpo, la fórmula de la aleta anal, la fina forma aserrada del pre-opérculo y la pigmentación en la base de las aletas dorsal y anal.

Lentiviral hematopoietic cell gene therapy for X-linked adrenoleukodystrophy.

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Cartier, Nathalie; Hacein-Bey-Abina, Salima; Bartholomae, Cynthia C; Bougnères, Pierre; Schmidt, Manfred; Kalle, Christof Von; Fischer, Alain; Cavazzana-Calvo, Marina; Aubourg, Patrick

2012-01-01

X-linked adrenoleukodystrophy (X-ALD) is a severe genetic demyelinating disease caused by a deficiency in ALD protein, an adenosine triphosphate-binding cassette transporter encoded by the ABCD1 gene. When performed at an early stage of the disease, allogeneic hematopoietic stem cell transplantation (HCT) can arrest the progression of cerebral demyelinating lesions. To overcome the limitations of allogeneic HCT, hematopoietic stem cell (HSC) gene therapy strategy aiming to perform autologous transplantation of lentivirally corrected cells was developed. We demonstrated the preclinical feasibility of HSC gene therapy for ALD based on the correction of CD34+ cells from X-ALD patients using an HIV1-derived lentiviral vector. These results prompted us to initiate an HSC gene therapy trial in two X-ALD patients who had developed progressive cerebral demyelination, were candidates for allogeneic HCT, but had no HLA-matched donors or cord blood. Autologous CD34+ cells were purified from the peripheral blood after G-CSF stimulation, genetically corrected ex vivo with a lentiviral vector encoding wild-type ABCD1 cDNA, and then reinfused into the patients after they had received full myeloablative conditioning. Over 3 years of follow-up, the hematopoiesis remained polyclonal in the two patients treated with 7-14% of granulocytes, monocytes, and T and B lymphocytes expressing the lentivirally encoded ALD protein. There was no evidence of clonal dominance or skewing based on the retrieval of lentiviral insertion repertoire in different hematopoietic lineages by deep sequencing. Cerebral demyelination was arrested 14 and 16months, respectively, in the two treated patients, without further progression up to the last follow-up, a clinical outcome that is comparable to that observed after allogeneic HCT. Longer follow-up of these two treated patients and HSC gene therapy performed in additional ALD patients are however needed to evaluate the safety and efficacy of lentiviral HSC

Juvenile Residential Facility Census, 2010: Selected Findings. Juvenile Offenders and Victims: National Report Series. Bulletin NCJ 241134

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Hockenberry, Sarah; Sickmund, Melissa; Sladky, Anthony

2013-01-01

This bulletin is part of the "Juvenile Offenders and Victims National Report Series." The "National Report" offers a comprehensive statistical overview of the problems of juvenile crime, violence, and victimization and the response of the juvenile justice system. During each interim year, the bulletins in the "National…

A previously unidentified deletion in G protein-coupled receptor 143 causing X-linked congenital nystagmus in a Chinese family

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Jing Liu

2016-01-01

Full Text Available Background: Congenital nystagmus (CN is characterized by conjugated, spontaneous, and involuntary ocular oscillations. It is an inherited disease and the most common inheritance pattern is X-linked CN. In this study, our aim is to identify the disease-causing mutation in a large sixth-generation Chinese family with X-linked CN. Methods: It has been reported that mutations in four-point-one, ezrin, radixin, moesin domain-containing 7 gene (FRMD7 and G protein-coupled receptor 143 gene (GPR143 account for the majority patients of X-linked nystagmus. We collected 8 ml blood samples from members of a large sixth-generation pedigree with X-linked CN and 100 normal controls. FRMD7 and GPR143 were scanned by polymerase chain reaction (PCR-based DNA sequencing assays, and multiplex PCR assays were applied to detect deletions. Results: We identified a previously unreported deletion covering 7 exons in GPR143 in a Chinese family. The heterozygous deletion from exon 3 to exon 9 of GPR143 was detected in all affected males in the family, while it was not detected in other unaffected relatives or 100 normal controls. Conclusions: This is the first report of molecular characterization in GPR143 gene in the CN family. Our results expand the spectrum of GPR143 mutations causing CN and further confirm the role of GPR143 in the pathogenesis of CN.

An X-linked Myh11-CreERT2 mouse line resulting from Y to X chromosome-translocation of the Cre allele.

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Liao, Mingmei; Zhou, Junmei; Wang, Fen; Ali, Yasmin H; Chan, Kelvin L; Zou, Fei; Offermanns, Stefan; Jiang, Zhisheng; Jiang, Zhihua

2017-09-01

The Myh11-CreER T2 mouse line (Cre + ) has gained increasing application because of its high lineage specificity relative to other Cre drivers targeting smooth muscle cells (SMCs). This Cre allele, however, was initially inserted into the Y chromosome (X/Y Cre+ ), which excluded its application in female mice. Our group established a Cre + colony from male ancestors. Surprisingly, genotype screening identified female carriers that stably transmitted the Cre allele to the following generations. Crossbreeding experiments revealed a pattern of X-linked inheritance for the transgene (k > 1000), indicating that these female carries acquired the Cre allele through a mechanism of Y to X chromosome translocation. Further characterization demonstrated that in hemizygous X/X Cre+ mice Cre activity was restricted to a subset arterial SMCs, with Cre expression in arteries decreased by 50% compared to X/Y Cre+ mice. This mosaicism, however, diminished in homozygous X Cre+ /X Cre+ mice. In a model of aortic aneurysm induced by a SMC-specific Tgfbr1 deletion, the homozygous X Cre+ /X Cre+ Cre driver unmasked the aortic phenotype that is otherwise subclinical when driven by the hemizygous X/X Cre+ Cre line. In conclusion, the Cre allele carried by this female mouse line is located on the X chromosome and subjected to X-inactivation. The homozygous X Cre+ /X Cre+ mice produce uniform Cre activity in arterial SMCs. © 2017 Wiley Periodicals, Inc.

Juvenile Confinement in Context

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Mendel, Richard A.

2012-01-01

For more than a century, the predominant strategy for the treatment and punishment of serious and sometimes not-so-serious juvenile offenders in the United States has been placement into large juvenile corrections institutions, alternatively known as training schools, reformatories, or youth corrections centers. America's heavy reliance on…

Juvenile Angiofibroma: Evolution of Management

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Nicolai, Piero; Schreiber, Alberto; Bolzoni Villaret, Andrea

2012-01-01

Juvenile angiofibroma is a rare benign lesion originating from the pterygopalatine fossa with distinctive epidemiologic features and growth patterns. The typical patient is an adolescent male with a clinical history of recurrent epistaxis and nasal obstruction. Although the use of nonsurgical therapies is described in the literature, surgery is currently considered the ideal treatment for juvenile angiofibroma. Refinement in preoperative embolization has provided significant reduction of complications and intraoperative bleeding with minimal risk of residual disease. During the last decade, an endoscopic technique has been extensively adopted as a valid alternative to external approaches in the management of small-intermediate size juvenile angiofibromas. Herein, we review the evolution in the management of juvenile angiofibroma with particular reference to recent advances in diagnosis and treatment. PMID:22164185

Juvenile Angiofibroma: Evolution of Management

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Piero Nicolai

2012-01-01

Full Text Available Juvenile angiofibroma is a rare benign lesion originating from the pterygopalatine fossa with distinctive epidemiologic features and growth patterns. The typical patient is an adolescent male with a clinical history of recurrent epistaxis and nasal obstruction. Although the use of nonsurgical therapies is described in the literature, surgery is currently considered the ideal treatment for juvenile angiofibroma. Refinement in preoperative embolization has provided significant reduction of complications and intraoperative bleeding with minimal risk of residual disease. During the last decade, an endoscopic technique has been extensively adopted as a valid alternative to external approaches in the management of small-intermediate size juvenile angiofibromas. Herein, we review the evolution in the management of juvenile angiofibroma with particular reference to recent advances in diagnosis and treatment.

Neonatal infection produces significant changes in immune function with no associated learning deficits in juvenile rats.

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Osborne, Brittany F; Caulfield, Jasmine I; Solomotis, Samantha A; Schwarz, Jaclyn M

2017-10-01

The current experiments examined the impact of early-life immune activation and a subsequent mild immune challenge with lipopolysaccharide (LPS; 25µg/kg) on hippocampal-dependent learning, proinflammatory cytokine expression in the brain, and peripheral immune function in juvenile male and female rats at P24, an age when hippocampal-dependent learning and memory first emerges. Our results indicate that neonatal infection did not produce learning deficits in the hippocampal-dependent context pre-exposure facilitation effect paradigm in juvenile males and females, contrary to what has been observed in adults. Neonatal infection produced an increase in baseline IL-1β expression in the hippocampus (HP) and medial prefrontal cortex (mPFC) of juvenile rats. Furthermore, neonatally infected rats showed exaggerated IL-1β expression in the HP following LPS treatment as juveniles; and juvenile females, but not males, showed exaggerated IL-1β expression in the mPFC following LPS treatment. Neonatal infection attenuated the production of IL-6 expression following LPS treatment in both the brain and the spleen, and neonatal infection decreased the numbers of circulating white blood cells in juvenile males and females, an effect that was further exacerbated by subsequent LPS treatment. Together, our data indicate that the consequences of neonatal infection are detectable even early in juvenile development, though we found no concomitant hippocampal-dependent learning deficits at this young age. These findings underscore the need to consider age and associated on-going neurodevelopmental processes as important factors contributing to the emergence of cognitive and behavioral disorders linked to early-life immune activation. © 2017 Wiley Periodicals, Inc. Develop Neurobiol 77: 1221-1236, 2017. © 2017 Wiley Periodicals, Inc.

Gene therapy and genome surgery in the retina.

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DiCarlo, James E; Mahajan, Vinit B; Tsang, Stephen H

2018-06-01

Precision medicine seeks to treat disease with molecular specificity. Advances in genome sequence analysis, gene delivery, and genome surgery have allowed clinician-scientists to treat genetic conditions at the level of their pathology. As a result, progress in treating retinal disease using genetic tools has advanced tremendously over the past several decades. Breakthroughs in gene delivery vectors, both viral and nonviral, have allowed the delivery of genetic payloads in preclinical models of retinal disorders and have paved the way for numerous successful clinical trials. Moreover, the adaptation of CRISPR-Cas systems for genome engineering have enabled the correction of both recessive and dominant pathogenic alleles, expanding the disease-modifying power of gene therapies. Here, we highlight the translational progress of gene therapy and genome editing of several retinal disorders, including RPE65-, CEP290-, and GUY2D-associated Leber congenital amaurosis, as well as choroideremia, achromatopsia, Mer tyrosine kinase- (MERTK-) and RPGR X-linked retinitis pigmentosa, Usher syndrome, neovascular age-related macular degeneration, X-linked retinoschisis, Stargardt disease, and Leber hereditary optic neuropathy.

Egg cortisol exposure enhances fearfulness in larvae and juvenile rainbow trout

DEFF Research Database (Denmark)

Colson, Violaine; Valotaire, Claudiane; Geffroy, Benjamin

2015-01-01

We investigated the effects of an early boost of cortisol exposure in rainbow trout (Oncorhynchus mykiss) eggs during fertilisation on subsequent behavioural responses when exposed to a sudden stimulus in larvae and juveniles. At 55 d post-fertilisation (dpf), treatment had no effect on high...... accelerations occurring after a sudden event. At 146 dpf, these high accelerations were more frequent in cortisol-treated fish than in controls. At 146 dpf also, swimming activity was increased in cortisol-treated fish both before and after the sudden stimulus. This study underlines the important behavioural...... modifications in both larvae and juveniles, linked to a change in the surrounding environment of the embryo. Indeed, fish exposed to cortisol as eggs showed a higher level of fearfulness later in life. Our findings are of major interest for stress management in an aquaculture context and also allow for a better...

Sagittal synostosis in X-linked hypophosphatemic rickets and related diseases

Energy Technology Data Exchange (ETDEWEB)

Currarino, Guido [Texas Scottish Rite Hospital, Department of Radiology, Dallas, TX (United States)

2007-08-15

The recent observations of two new cases of X-linked hypophosphatemic rickets associated with premature closure of the sagittal suture prompted a review of similar cases seen in this institution. To review the clinical records and skull radiographs of 28 children with hypophosphatemic rickets in order to investigate the frequency and type of craniosynostosis and other cranial vault changes seen in these conditions and to review the literature for relevant findings. Clinical and imaging records were reviewed on 28 patients with hypophosphatemic rickets, all younger than 18 years. Most patients had X-linked hypophosphatemic rickets and a few had autosomal-dominant hypophosphatemic rickets or were non-familial cases. Of the 28 patients, 13 had sagittal synostosis. Dolichocephaly was present in ten patients. The configuration of the cranial vault in some of these ten patients with dolichocephaly varied somewhat from that seen in nonsyndromic sagittal synostosis. In one patient, a Chiari I malformation was demonstrated by MRI. In another patient with increased intracranial pressure the sagittal suture closure was associated with lambdoidal synostosis. Dolichocephaly was not present in three patients, suggesting that the synostosis started later than in the other patients, probably in the second year of life, a period of slower brain growth than in the first year. The two patients in this group of three showed thickening and sclerosis of the cranial vault of uncertain etiology. There is an increased risk of sagittal synostosis in hypophosphatemic rickets and related diseases in children. The appearance of the cranial vault in this type of synostosis can vary from that seen in nonsyndromic synostosis. In this setting, careful clinical and imaging follow-up is warranted. (orig.)

Sagittal synostosis in X-linked hypophosphatemic rickets and related diseases

International Nuclear Information System (INIS)

Currarino, Guido

2007-01-01

The recent observations of two new cases of X-linked hypophosphatemic rickets associated with premature closure of the sagittal suture prompted a review of similar cases seen in this institution. To review the clinical records and skull radiographs of 28 children with hypophosphatemic rickets in order to investigate the frequency and type of craniosynostosis and other cranial vault changes seen in these conditions and to review the literature for relevant findings. Clinical and imaging records were reviewed on 28 patients with hypophosphatemic rickets, all younger than 18 years. Most patients had X-linked hypophosphatemic rickets and a few had autosomal-dominant hypophosphatemic rickets or were non-familial cases. Of the 28 patients, 13 had sagittal synostosis. Dolichocephaly was present in ten patients. The configuration of the cranial vault in some of these ten patients with dolichocephaly varied somewhat from that seen in nonsyndromic sagittal synostosis. In one patient, a Chiari I malformation was demonstrated by MRI. In another patient with increased intracranial pressure the sagittal suture closure was associated with lambdoidal synostosis. Dolichocephaly was not present in three patients, suggesting that the synostosis started later than in the other patients, probably in the second year of life, a period of slower brain growth than in the first year. The two patients in this group of three showed thickening and sclerosis of the cranial vault of uncertain etiology. There is an increased risk of sagittal synostosis in hypophosphatemic rickets and related diseases in children. The appearance of the cranial vault in this type of synostosis can vary from that seen in nonsyndromic synostosis. In this setting, careful clinical and imaging follow-up is warranted. (orig.)

1 Tb/s x km multimode fiber link combining WDM transmission and low-linewidth lasers.

Science.gov (United States)

Gasulla, I; Capmany, J

2008-05-26

We have successfully demonstrated an error-free transmission of 10 x 20 Gb/s 200 GHz-spaced ITU channels through a 5 km link of 62.5-microm core-diameter graded-index multimode silica fiber. The overall figure corresponds to an aggregate bit rate per length product of 1 Tb/s x km, the highest value ever reported to our knowledge. Successful transmission is achieved by a combination of low-linewidth DFB lasers and the central launch technique.

Sex-linked dominant

Science.gov (United States)

Inheritance - sex-linked dominant; Genetics - sex-linked dominant; X-linked dominant; Y-linked dominant ... can be either an autosomal chromosome or a sex chromosome. It also depends on whether the trait ...

Sex-specific expression of the X-linked histone demethylase gene Jarid1c in brain.

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Jun Xu

Full Text Available Jarid1c, an X-linked gene coding for a histone demethylase, plays an important role in brain development and function. Notably, JARID1C mutations cause mental retardation and increased aggression in humans. These phenotypes are consistent with the expression patterns we have identified in mouse brain where Jarid1c mRNA was detected in hippocampus, hypothalamus, and cerebellum. Jarid1c expression and associated active histone marks at its 5'end are high in P19 neurons, indicating that JARID1C demethylase plays an important role in differentiated neuronal cells. We found that XX mice expressed Jarid1c more highly than XY mice, independent of their gonadal types (testes versus ovaries. This increased expression in XX mice is consistent with Jarid1c escape from X inactivation and is not compensated by expression from the Y-linked paralogue Jarid1d, which is expressed at a very low level compared to the X paralogue in P19 cells. Our observations suggest that sex-specific expression of Jarid1c may contribute to sex differences in brain function.

Dysregulation of X-Linked Gene Expression in Klinefelter’s Syndrome and Association With Verbal Cognition

Science.gov (United States)

Vawter, Marquis P.; Harvey, Philip D.; DeLisi, Lynn E.

2007-01-01

Klinefelter’s Syndrome (KS) is a chromosomal karyotype with one or more extra X chromosomes. KS individuals often show language impairment and the phenotype might be due to overexpression of genes on the extra X chromosome(s). We profiled mRNA derived from lymphoblastoid cell lines from males with documented KS and control males using the Affymetrix U133P microarray platform. There were 129 differentially expressed genes (DEGs) in KS group compared with controls after Benjamini–Hochberg false discovery adjustment. The DEGs included 14 X chromosome genes which were significantly over-represented. The Y chromosome had zero DEGs. In exploratory analysis of gene expression–cognition relationships, 12 DEGs showed significant correlation of expression with measures of verbal cognition in KS. Overexpression of one pseudoautosomal gene, GTPBP6 (GTP binding protein 6, putative) was inversely correlated with verbal IQ (r = −0.86, P < 0.001) and four other measures of verbal ability. Overexpression of XIST was found in KS compared to XY controls suggesting that silencing of many genes on the X chromosome might occur in KS similar to XX females. The microarray findings for eight DEGs were validated by quantitative PCR. The 14 X chromosome DEGs were not differentially expressed in prior studies comparing female and male brains suggesting a dysregulation profile unique to KS. Examination of X-linked DEGs, such as GTPBP6, TAF9L, and CXORF21, that show verbal cognition–gene expression correlations may establish a causal link between these genes, neurodevelopment, and language function. A screen of candidate genes may serve as biomarkers of KS for early diagnosis. PMID:17347996

Juvenile polyposis syndrome

OpenAIRE

Hsiao, Yi-Han; Wei, Chin-Hung; Chang, Szu-Wen; Chang, Lung; Fu, Yu-Wei; Lee, Hung-Chang; Liu, Hsuan-Liang; Yeung, Chun-Yan

2016-01-01

Abstract Background: Juvenile polyposis syndrome, a rare disorder in children, is characterized with multiple hamartomatous polyps in alimentary tract. A variety of manifestations include bleeding, intussusception, or polyp prolapse. In this study, we present an 8-month-old male infant of juvenile polyposis syndrome initially presenting with chronic anemia. To the best of our knowledge, this is the youngest case reported in the literature. Methods: We report a rare case of an 8-month-old male...

Diverse juvenile life-history behaviours contribute to the spawning stock of an anadromous fish population

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Walsworth, Timothy E.; Schindler, Daniel E.; Griffiths, Jennifer R.; Zimmerman, Christian E.

2015-01-01

Habitat quality often varies substantially across space and time, producing a shifting mosaic of growth and mortality trade-offs across watersheds. Traditional studies of juvenile habitat use have emphasised the evolution of single optimal strategies that maximise recruitment to adulthood and eventual fitness. However, linking the distribution of individual behaviours that contribute to recruitment at the population level has been elusive, particularly for highly fecund aquatic organisms. We examined juvenile habitat use within a population of sockeye salmon (Oncorhynchus nerka) that spawn in a watershed consisting of two interconnected lakes and a marine lagoon. Otolith microchemical analysis revealed that the productive headwater lake accounted for about half of juvenile growth for those individuals surviving to spawn in a single river in the upper watershed. However, 47% of adults had achieved more than half of their juvenile growth in the downstream less productive lake, and 3% of individuals migrated to the estuarine environment during their first summer and returned to freshwater to overwinter before migrating back to sea. These results describe a diversity of viable habitat-use strategies by juvenile sockeye salmon that may buffer the population against poor conditions in any single rearing environment, reduce density-dependent mortality and have implications for the designation of critical habitat for conservation purposes. A network of accessible alternative habitats providing trade-offs in growth and survival may be important for long-term viability of populations.

Pyoderma gangrenosum-like ulcer in a patient with X-linked agammaglobulinemia: identification of Helicobacter bilis by mass spectrometry analysis.

Science.gov (United States)

Murray, Patrick R; Jain, Ashish; Uzel, Gulbu; Ranken, Raymond; Ivy, Cristina; Blyn, Lawrence B; Ecker, David J; Sampath, Rangarajan; Lee, Chyi-Chia Richard; Turner, Maria L

2010-05-01

Pyoderma gangrenosum-like ulcers and cellulitis of the lower extremities associated with recurrent fevers in patients with X-linked (Bruton) agammaglobulinemia have been reported to be caused by Helicobacter bilis (formerly classified as Flexispira rappini and then Helicobacter strain flexispira taxon 8). Consistent themes in these reports are the difficulty in recovering this organism in blood and wound cultures and in maintaining isolates in vitro. We confirmed the presence of this organism in a patient's culture by using a novel application of gene amplification polymerase chain reaction and electrospray ionization time-of-flight mass spectrometry. An adolescent boy with X-linked agammaglobulinemia presented with indurated plaques and a chronic leg ulcer whose origin was strongly suspected to be an H bilis organism. Histologic analysis demonstrated positive Warthin-Starry staining of curvilinear rods, which grew in culture but failed to grow when subcultured. They could not be identified by conventional techniques. A combination of gene amplification by polymerase chain reaction and electrospray ionization time-of-flight mass spectrometry confirmed the identity of this organism. This novel technology was useful in the identification of a difficult-to-grow Helicobacter organism, the cause of pyoderma gangrenosum-like leg ulcers in patients with X-linked agammaglobulinemia. Correct identification of this organism as the cause of pyoderma gangrenosum-like ulcers in patients with X-linked agammaglobulinemia is of great importance for the early initiation of appropriate and curative antibiotic therapy.

Nonspecific X-linked mental retardation with macrocephaly and obesity: A further family

Energy Technology Data Exchange (ETDEWEB)

Baraitser, M.; Reardon, W. [Hospital for Sick Children, London (United Kingdom); Vijeratnam, S. [Highlands Hospital, London (United Kingdom)

1995-07-03

The phenotypic nonspecificity of many forms of X-linked mental retardation has hampered attempts to classify them into clinically homogeneous groups. One such condition, described by Clark and Baraitser, has been the subject of a single pedigree report to date. We now describe a further pedigree whose affected members share many manifestations with those reported by Clark and Baraitser, and we consider the possible distinction between this condition and Atkin-Flaitz syndrome. 9 refs., 4 figs., 1 tab.

Social and psychological aspects of criminal juvenile justice in the world practice (Anglo-Saxon model of juvenile justice

Directory of Open Access Journals (Sweden)

D.S. Oshevsky

2013-10-01

Full Text Available The article is the final part of the review of existing foreign models of juvenile criminal justice system. We analyze the principles of juvenile justice in the criminal trial: protective orientation, personalization and social richness of the trial, the emphasis on educational influences. We present the foreign experience of incorporating social, psychological and clinical special knowledge into specialized justice concerning juvenile offenders. We analyze modern trends in the development of juvenile justice in the United States and Canada. We present material related to methods of risk assessment of re-offending among adolescents. We highlight approaches to complex long-term follow-up of juvenile offenders in Anglo-Saxon juvenile justice. We describe some aspects of the probation service using the method of case management. In the context of the accepted “National Strategy for Action for the Benefit of Children for 2012-2017”, the prospects for the development of specialized criminal justice for young offenders in the Russian Federation are discussed

Juvenile polyposis syndrome

Science.gov (United States)

Hsiao, Yi-Han; Wei, Chin-Hung; Chang, Szu-Wen; Chang, Lung; Fu, Yu-Wei; Lee, Hung-Chang; Liu, Hsuan-Liang; Yeung, Chun-Yan

2016-01-01

Abstract Background: Juvenile polyposis syndrome, a rare disorder in children, is characterized with multiple hamartomatous polyps in alimentary tract. A variety of manifestations include bleeding, intussusception, or polyp prolapse. In this study, we present an 8-month-old male infant of juvenile polyposis syndrome initially presenting with chronic anemia. To the best of our knowledge, this is the youngest case reported in the literature. Methods: We report a rare case of an 8-month-old male infant who presented with chronic anemia and gastrointestinal bleeding initially. Panendoscopy and abdominal computed tomography showed multiple polyposis throughout the entire alimentary tract leading to intussusception. Technetium-99m-labeled red blood cell (RBC) bleeding scan revealed the possibility of gastrointestinal tract bleeding in the jejunum. Histopathological examination on biopsy samples showed Peutz-Jeghers syndrome was excluded, whereas the diagnosis of juvenile polyposis syndrome was established. Results: Enteroscopic polypectomy is the mainstay of the treatment. However, polyps recurred and occupied the majority of the gastrointestinal tract in 6 months. Supportive management was given. The patient expired for severe sepsis at the age of 18 months. Conclusion: Juvenile polyposis syndrome is an inherited disease, so it is not possible to prevent it. Concerning of its poor outcome and high mortality rate, it is important that we should increase awareness and education of the parents at its earliest stages. PMID:27631205

Acupuntura em adolescentes com fibromialgia juvenil Acupuntura en adolescentes con fibromialgia juvenil Acupuncture in adolescents with juvenile fibromyalgia

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Marialda Höfling P. Dias

2012-01-01

Full Text Available OBJETIVO: Descrever a utilização da acupuntura em adolescentes com fibromialgia juvenil. MÉTODOS: Estudo retrospectivo realizado em pacientes com fibromialgia juvenil (critérios do Colégio Americano de Reumatologia submetidos a, pelo menos, 11 sessões semanais de acupuntura. As avaliações antes e após acupuntura incluíram dados demográficos, características da dor musculoesquelética, número de pontos dolorosos (NPD, escala visual analógica (EVA de dor, algiometria e índice miálgico (IM. Durante o estudo, os pacientes puderam usar analgésicos, amitriptilina e foram orientados a praticar atividade física aeróbica. Os resultados antes e após acupuntura foram comparados pelo teste não paramétrico de Wilcoxon. RESULTADOS: Dos 38 pacientes com fibromialgia juvenil acompanhados em oito anos consecutivos, 13 tinham todas as informações nos prontuários e nas fichas de acupuntura e foram avaliados. Destes 13, sete obtiveram melhora nos três parâmetros analisados (número de pontos dolorosos, EVA de dor e IM. As medianas do número de pontos dolorosos e da EVA de dor foram significativamente maiores antes do tratamento quando comparados ao final do tratamento com as sessões de acupuntura [14 (11-18 versus 10 (0-15, p=0,005; 6 (2-10 versus 3 (0-10, p=0,045; respectivamente]. Em contraste, a mediana do IM foi significativamente menor antes do tratamento [3,4 (2,49-4,39 versus 4,2 (2,71-5,99, p=0,02]. Nenhum dos pacientes com fibromialgia juvenil apresentou eventos adversos associados à acupuntura. CONCLUSÕES: Acupuntura é uma modalidade de Medicina Tradicional Chinesa que pode ser utilizada nos pacientes pediátricos com fibromialgia. Futuros estudos controlados serão necessários.OBJETIVO: Describir el uso de acupuntura en adolescentes con fibromialgia juvenil. MÉTODOS: Estudio retrospectivo realizado en pacientes con fibromialgia juvenil (criterios del Colegio Americano de Reumatología sometidos a al menos 11 sesiones

High-resolution mapping of the x-linked hypohidrotic ectodermal dysplasia (EDA) locus

Energy Technology Data Exchange (ETDEWEB)

Zonana, J.; Jones, M.; Litt, M.; Kramer, P.; Browne, D.; Becker, H.W. (Oregon Health Sciences Univ., Portland, OR (United States)); Brockdorff, N.; Rastan, S. (Medical Council Clinical Research Centre, Harrow (United Kingdom)); Davies, K.P.; Clarke, A. (Univ. of Wales College of Medicine, Cardiff (United Kingdom)) (and others)

1992-11-01

The X-linked hypohidrotic ectodermal dysplasia (EDA) locus has been previously localized to the subchromosomal region Xq11-q21.1. The authors have extended previous linkage studies and analyzed linkage between the EDA locus and 10 marker loci, including five new loci, in 41 families. Four of the marker loci showed no recombination with the EDA locus, and six other loci were also linked to the EDA locus with recombination fractions of .009-.075. Multipoint analysis gave support to the placement of the PGK1P1 locus proximal to the EDA locus and the DXS453 and PGK1 loci distal to EDA. Further ordering of the loci could be inferred from a human-rodent somatic cell hybrid derived from an affected female with EDA and an X;9 translocation and from studies of an affected male with EDA and a submicroscopic deletion. Three of the proximal marker loci, which showed no recombination with the EDA locus, when used in combination, were informative in 92% of females. The closely linked flanking polymorphic loci DXS339 and DXS453 had heterozygosites of 72% and 76%, respectively, and when used jointly, they were doubly informative in 52% of females. The human DXS732 locus was defined by a conserved mouse probe pcos169E/4 (DXCrc169 locus) that consegregates with the mouse tabby (Ta) locus, a potential homologue to the EDA locus. The absence of recombination between EDA and the DXSA732 locus lends support to the hypothesis that the DXCrc169 locus in the mouse and the DXS732 locus in humans may contain candidate sequences for the Ta and EDA genes, respectively. 36 refs., 1 fig., 5 tabs.

X-linked deafness, stapes gushers and a distinctive defect of the inner ear

Energy Technology Data Exchange (ETDEWEB)

Phelps, P.D. (Royal National Throat, Nose and Ear Hospital, London (United Kingdom)); Reardon, W.; Pembrey, M. (Institute of Child Health, London (United Kingdom)); Bellman, S. (Hospital for Sick Children, London (United Kingdom)); Luxom, L. (National Hospital for Neurology and Neurosurgery, London (United Kingdom))

1991-08-01

We have made genetic linkage studies in 7 pedigrees in whom deafness was inherited in an X-linked manner. All patients had a full range of audiometric and vestibular function tests. Thin section high resolution CT in two planes was used to assess the state of the middle and inner ears. We found a distinctive inner ear deformity in some of the deaf males. Moreover, some of the obligate feamle carriers seem to have a milder form of the same anomaly associated with slight hearing loss. Genetic studies on some of the deaf males with apparently normal inner ear anatomy suggest a different locus on the X chromosome and hence a different pathogenesis for the deafness. (orig./GDG).

X-linked deafness, stapes gushers and a distinctive defect of the inner ear

International Nuclear Information System (INIS)

Phelps, P.D.; Reardon, W.; Pembrey, M.; Bellman, S.; Luxom, L.

1991-01-01

We have made genetic linkage studies in 7 pedigrees in whom deafness was inherited in an X-linked manner. All patients had a full range of audiometric and vestibular function tests. Thin section high resolution CT in two planes was used to assess the state of the middle and inner ears. We found a distinctive inner ear deformity in some of the deaf males. Moreover, some of the obligate feamle carriers seem to have a milder form of the same anomaly associated with slight hearing loss. Genetic studies on some of the deaf males with apparently normal inner ear anatomy suggest a different locus on the X chromosome and hence a different pathogenesis for the deafness. (orig./GDG)

Mutator/hypermutable fetal/juvenile metakaryotic stem cells and human colorectal carcinogenesis.

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Lohith G. Kini

2013-10-01

Full Text Available Adult age-specific colorectal cancer incidence rates increase exponentially from maturity, reach a maximum, then decline in extreme old age. Armitage and Doll (1957 postulated that the exponential increase resulted from n mutations occurring throughout adult life in normal cells at risk that initiated the growth of a preneoplastic colony in which subsequent m mutations promoted one of the preneoplastic cells at risk to form a lethal neoplasia. We have reported cytologic evidence that these cells at risk are fetal/juvenile organogenic, then preneoplastic metakaryotic stem cells. Metakaryotic cells display stem-like behaviors of both symmetric and asymmetric nuclear divisions and peculiarities such as bell shaped nuclei and amitotic nuclear fission that distinguish them from embryonic, eukaryotic stem cells. Analyses of mutant colony sizes and numbers in adult lung epithelia supported the inferences that the metakaryotic organogenic stem cells are constitutively mutator/hypermutable and that their contributions to cancer initiation are limited to the fetal/juvenile period. We have amended the two-stage model of Armitage and Doll and incorporated these several inferences in a computer program CancerFit v.5.0. We compared the expectations of the amended model to adult (15-104 yr age-specific colon cancer rates for European American males born 1890-99 and observed remarkable concordance. When estimates of normal colonic fetal/juvenile APC and OAT gene mutation rates (~2-5 x 10-5 per stem cell doubling and preneoplastic colonic gene loss rates (~ 8 x 10-3 were applied, the model was in accordance only for the values of n = 2 and m = 4 or 5.

A model for simulating the active dispersal of juvenile sea turtles with a case study on western Pacific leatherback turtles

Science.gov (United States)

Lalire, Maxime

2017-01-01

Oceanic currents are known to broadly shape the dispersal of juvenile sea turtles during their pelagic stage. Accordingly, simple passive drift models are widely used to investigate the distribution at sea of various juvenile sea turtle populations. However, evidence is growing that juveniles do not drift purely passively but also display some swimming activity likely directed towards favorable habitats. We therefore present here a novel Sea Turtle Active Movement Model (STAMM) in which juvenile sea turtles actively disperse under the combined effects of oceanic currents and habitat-driven movements. This model applies to all sea turtle species but is calibrated here for leatherback turtles (Dermochelys coriacea). It is first tested in a simulation of the active dispersal of juveniles originating from Jamursba-Medi, a main nesting beach of the western Pacific leatherback population. Dispersal into the North Pacific Ocean is specifically investigated. Simulation results demonstrate that, while oceanic currents broadly shape the dispersal area, modeled habitat-driven movements strongly structure the spatial and temporal distribution of juveniles within this area. In particular, these movements lead juveniles to gather in the North Pacific Transition Zone (NPTZ) and to undertake seasonal north-south migrations. More surprisingly, juveniles in the NPTZ are simulated to swim mostly towards west which considerably slows down their progression towards the American west coast. This increases their residence time, and hence the risk of interactions with fisheries, in the central and eastern part of the North Pacific basin. Simulated habitat-driven movements also strongly reduce the risk of cold-induced mortality. This risk appears to be larger among the juveniles that rapidly circulate into the Kuroshio than among those that first drift into the North Equatorial Counter Current (NECC). This mechanism might induce marked interannual variability in juvenile survival as the

A model for simulating the active dispersal of juvenile sea turtles with a case study on western Pacific leatherback turtles.

Science.gov (United States)

Gaspar, Philippe; Lalire, Maxime

2017-01-01

Oceanic currents are known to broadly shape the dispersal of juvenile sea turtles during their pelagic stage. Accordingly, simple passive drift models are widely used to investigate the distribution at sea of various juvenile sea turtle populations. However, evidence is growing that juveniles do not drift purely passively but also display some swimming activity likely directed towards favorable habitats. We therefore present here a novel Sea Turtle Active Movement Model (STAMM) in which juvenile sea turtles actively disperse under the combined effects of oceanic currents and habitat-driven movements. This model applies to all sea turtle species but is calibrated here for leatherback turtles (Dermochelys coriacea). It is first tested in a simulation of the active dispersal of juveniles originating from Jamursba-Medi, a main nesting beach of the western Pacific leatherback population. Dispersal into the North Pacific Ocean is specifically investigated. Simulation results demonstrate that, while oceanic currents broadly shape the dispersal area, modeled habitat-driven movements strongly structure the spatial and temporal distribution of juveniles within this area. In particular, these movements lead juveniles to gather in the North Pacific Transition Zone (NPTZ) and to undertake seasonal north-south migrations. More surprisingly, juveniles in the NPTZ are simulated to swim mostly towards west which considerably slows down their progression towards the American west coast. This increases their residence time, and hence the risk of interactions with fisheries, in the central and eastern part of the North Pacific basin. Simulated habitat-driven movements also strongly reduce the risk of cold-induced mortality. This risk appears to be larger among the juveniles that rapidly circulate into the Kuroshio than among those that first drift into the North Equatorial Counter Current (NECC). This mechanism might induce marked interannual variability in juvenile survival as the

Juvenile dispersal in Calomys venustus (Muridae: Sigmodontinae)

Science.gov (United States)

Priotto, José; Steinmann, Andrea; Provensal, Cecilia; Polop, Jaime

2004-05-01

Both spacing behaviour and dispersal movement are viewed as hierarchical processes in which the effects may be expressed at spatial scale. This research was carried out to examine the hypothesis that the presence of parents promotes the dispersal of juveniles from their natal nest and their father or mother home-range, in Calomys venustus.The study was carried out in four 0.25 ha fences (two controls and two experimentals), in a natural pasture. This study had two periods: Father Removal (FR) (August and December 1997; year one) and Mother Removal (MR) (August 1998 and January 1999; year two). For the FR treatment fathers were removed after juveniles were born, but in the MR treatment mothers were removed after the juveniles were weaned. The effect of parents on the dispersal distance of juveniles was analysed with respect to their natal nest and their mother and father home-range. Dispersal distance from the nest of C. venustus was independent of either male or female parent. Juveniles were more dispersing in relation to the centre of activity of their mothers than to that of their fathers, and females were more dispersing than males. Female juveniles overlap their home-range with their parents less than male juveniles do. The differences observed between female and male juveniles would be related to their different sexual maturation times, as well as to the female territoriality.

Effect of late-stage therapy on disease progression in AAV-mediated rescue of photoreceptor cells in the retinoschisin-deficient mouse.

Science.gov (United States)

Janssen, Andreas; Min, Seok H; Molday, Laurie L; Tanimoto, Naoyuki; Seeliger, Mathias W; Hauswirth, William W; Molday, Robert S; Weber, Bernhard H F

2008-06-01

Proof-of-concept for a successful adeno-associated virus serotype 5 (AAV5)-mediated gene therapy in X-linked juvenile retinoschisis (XLRS) has been demonstrated in an established mouse model for this condition. The initial studies concentrated on early time-points of treatment. In this study, we aimed to explore the consequences of single subretinal injections administered at various stages of more advanced disease. By electroretinogram (ERG), functional improvement in treated versus untreated eyes is found to be significant in retinoschisin-deficient mice injected at the time-points of 15 days (P15), 1 month (PM1), and 2 months (PM2) after birth. In mice treated at 7 months after birth (PM7), an age previously shown to exhibit advanced retinal disease, ERG responses reveal no beneficial effects of vector treatment. Generally, functional rescue is paralleled by sustained retinoschisin expression and significant photoreceptor survival relative to untreated eyes. Quantitative measures of photoreceptors and peanut agglutinin-labeled ribbon synapses demonstrate rescue effects even in mice injected as late as PM7. Taken together, AAV5-mediated gene replacement is beneficial in slowing disease progression in murine XLRS. In addition, we show the effectiveness of rescue efforts even if treatment is delayed until advanced signs of disease have developed. Human XLRS patients might benefit from these findings, which suggest that the effectiveness of treatment appears not to be restricted to the early stages of the disease, and that treatment may prove to be valuable even when administered at more advanced stages.

Gastric adenocarcinoma in a patient with X-linked agammaglobulinemia and HIV: Case report and review of the literature

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Joud Hajjar

2016-09-01

Full Text Available X-linked agammaglobulinemia (XLA is an X-linked inherited disease usually caused by a germline mutation in the BTK gene leading to Bruton’s tyrosine kinase deficiency, which results in the impaired development of B-lymphocytes and a subsequent lack of immunoglobulin production. Patients with XLA have an increased susceptibility to bacterial and viral infections, and multiple case reports have been published regarding an association between XLA and gastrointestinal (GI malignancy. Here, we describe a case of a 25-year-old man with XLA and HIV, who developed gastric adenocarcinoma. Previously reported cases of XLA and GI malignancy are also reviewed and summarized.

Exonization of a LINE1 fragment implicated in X-linked hypohidrotic ectodermal dysplasia in cattle

DEFF Research Database (Denmark)

Karlskov-Mortensen, Peter; Cirera Salicio, Susanna; Nielsen, Ole Lerberg

2011-01-01

A case of X-linked hypohidrotic ectodermal dysplasia (XHED) was identified in a family of Danish Red Holstein cattle. The ectodysplasin-signalling protein (EDA) is known to be central in the normal development of ectodermal structures, and mutations in the ectodysplasin A (EDA) gene have been rep...

Essential habitat for sardine juveniles in Iberian waters

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Sílvia Rodríguez-Climent

2017-09-01

Full Text Available In a period when the Iberian sardine stock abundance is at its historical minimum, knowledge of the sardine juvenile’s distribution is crucial for the development of fishery management strategies. Generalized additive models were used to relate juvenile sardine presence with geographical variables and spawning grounds (egg abundance and to model juvenile abundance with the concurrent environmental conditions. Three core areas of juvenile distribution were identified: the Northern Portuguese shelf (centred off Aveiro, the coastal region in the vicinity of the Tagus estuary, and the eastern Gulf of Cadiz. Spatial differences in the relationship between juvenile presence and egg abundances suggest that essential juvenile habitat might partially differ from the prevailing spawning grounds. Models also depicted significant relationships between juvenile abundance, temperature and geographical variables in combination with salinity in the west and with zooplankton in the south. Results indicate that the sardine juvenile distribution along the Iberian Peninsula waters are an outcome of a combination of dynamic processes occurring early in life, such as egg and larva retention, reduced mortality and favourable feeding grounds for both larvae and juveniles.

Generation of knockout rats with X-linked severe combined immunodeficiency (X-SCID using zinc-finger nucleases.

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Tomoji Mashimo

Full Text Available BACKGROUND: Although the rat is extensively used as a laboratory model, the inability to utilize germ line-competent rat embryonic stem (ES cells has been a major drawback for studies that aim to elucidate gene functions. Recently, zinc-finger nucleases (ZFNs were successfully used to create genome-specific double-stranded breaks and thereby induce targeted gene mutations in a wide variety of organisms including plants, drosophila, zebrafish, etc. METHODOLOGY/PRINCIPAL FINDINGS: We report here on ZFN-induced gene targeting of the rat interleukin 2 receptor gamma (Il2rg locus, where orthologous human and mouse mutations cause X-linked severe combined immune deficiency (X-SCID. Co-injection of mRNAs encoding custom-designed ZFNs into the pronucleus of fertilized oocytes yielded genetically modified offspring at rates greater than 20%, which possessed a wide variety of deletion/insertion mutations. ZFN-modified founders faithfully transmitted their genetic changes to the next generation along with the severe combined immune deficiency phenotype. CONCLUSIONS AND SIGNIFICANCE: The efficient and rapid generation of gene knockout rats shows that using ZFN technology is a new strategy for creating gene-targeted rat models of human diseases. In addition, the X-SCID rats that were established in this study will be valuable in vivo tools for evaluating drug treatment or gene therapy as well as model systems for examining the treatment of xenotransplanted malignancies.

INFLUENCIA DE LA MADERA JUVENIL DE PINO RADIATA SOBRE LAS PROPIEDADES MECÁNICAS DE TABLEROS OSB

OpenAIRE

PECHO,Robert; ANANIAS,Rubén A; BALLERINI,Aldo; CLOUTIER,Alain

2004-01-01

En este trabajo se estudia la influencia de la madera juvenil de pino radiata (Pinus radiata D. Don) sobre las propiedades mecánicas de tableros de hojuelas orientadas OSB. La madera para los ensayos es recogida de 10 árboles en pié de 26 años creciendo en plantaciones manejadas de la Octava región, Chile. La determinación de madera juvenil se realiza observando la variación radial de los anillos de crecimiento de la madera, usando un analizador de anillos en base a rayos X. Los detalles de l...

Juvenile offenders: competence to stand trial.

Science.gov (United States)

Soulier, Matthew

2012-12-01

This article details the legal background and assists the reader in the preparation and practical conduct of evaluations regarding juvenile adjudicative competency. The material is presented to be useful as a guide to direct questions of competency and covers aspects of evaluation that include: legal standard for competency to stand trial, developmental immaturity, current practice in juvenile competency to stand trial, forensic evaluation of juvenile competency to stand trial, organizing the evaluation, collateral sources of information, psychiatric evaluation of juvenile adjudicative competency, assessment of mental disorder and intellectual disability, assessment of developmental status, assessment of functional abilities for adjudicative competence, and reaching the forensic opinion. Copyright © 2012 Elsevier Inc. All rights reserved.

Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia

Science.gov (United States)

Focal dermal hypoplasia is an X-linked dominant disorder characterized by patchy hypoplastic skin and digital, ocular, and dental malformations. We used array comparative genomic hybridization to identify a 219-kb deletion in Xp11.23 in two affected females. We sequenced genes in this region and fou...

Parenting and juvenile delinquency

OpenAIRE

Hoeve, M.

2008-01-01

Juvenile delinquency is a noteworthy problem. This thesis addressed the association between parenting and juvenile delinquency by analyzing the concepts of parenting adopted in family research in relation to criminological concepts and measures of delinquent behavior. Four studies were conducted. The first study addressed a meta-analysis on parenting characteristics and styles in relation to delinquency. In this meta-analysis, previous manuscripts were systematically analyzed, computing mean ...

PSYCHOSOCIAL PROFILE OF JUVENILE DIABETES

Science.gov (United States)

Dass, Jyoti; Dhavale, H.S.; Rathi, Anup

1999-01-01

A study of the complex relationships between the patient characteristics, family and environmental influences, physician's behaviour and the demands of the disease with its management in Juvenile Diabetics was taken up at a general hospital. 90 subjects were selected for the study and grouped into three. Group A consisted of 30 Juvenile Diabetics, Group B of 30 Adult Diabetics and Group C of 30 Normal healthy adolescents. The impact of the illness was measured on the Diabetes Impact Measurement Scale (DIMS), the behavioural deviations and the parental attitudes towards child rearing on the Fallstrom's Questionnaire (FQ) and the family environment on the Family Climate Scale (FCS). Psychiatric morbidity was assessed using DSM-IV criteria. Group A & B were compared on the DIMS and Group A & C on FQ & FCS. Adult diabetics had a greater impact of diabetes. Juvenile diabetics had significantly higher frequency of behavioural deviations as compared to controls. Also there was a higher number of responses on questions indicating an overprotecting attitude amongst parents of juvenile diabetics. There was an increased incidence of psychiatric morbidity in juvenile diabetics as compared to normal adolescents irrespective of the family environment. The results are discussed in relation to current literature. PMID:21430802

X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face

NARCIS (Netherlands)

Harakalova, Magdalena; van den Boogaard, Marie-Jose; Sinke, Richard; van Lieshout, Stef; van Tuil, Marc C.; Duran, Karen; Renkens, Ivo; Terhal, Paulien A.; de Kovel, Carolien; Nijman, Ies J.; van Haelst, Mieke; Knoers, Nine V. A. M.; van Haaften, Gijs; Kloosterman, Wigard; Hennekam, Raoul C. M.; Cuppen, Edwin; van Amstel, Hans Kristian Ploos

Background We present a large Dutch family with seven males affected by a novel syndrome of X-linked intellectual disability, hypogonadism, gynaecomastia, truncal obesity, short stature and recognisable craniofacial manifestations resembling but not identical to Wilson-Turner syndrome. Seven female

X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face

NARCIS (Netherlands)

Harakalova, Magdalena; van den Boogaard, Marie-Jose; Sinke, Richard; van Lieshout, Stef; van Tuil, Marc C.; Duran, Karen; Renkens, Ivo; Terhal, Paulien A.; de Kovel, Carolien; Nijman, Ies J.; van Haelst, Mieke; Knoers, Nine V. A. M.; van Haaften, Gijs; Kloosterman, Wigard; Hennekam, Raoul C. M.; Cuppen, Edwin; Ploos van Amstel, Hans Kristian

2012-01-01

Background We present a large Dutch family with seven males affected by a novel syndrome of X-linked intellectual disability, hypogonadism, gynaecomastia, truncal obesity, short stature and recognisable craniofacial manifestations resembling but not identical to Wilson-Turner syndrome. Seven female

X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face

NARCIS (Netherlands)

Harakalova, M.; van den Boogaard, M.J.; Sinke, R.; van Lieshout, S.; van Tuil, M.C.; Duran, K.; Renkens, I.; Terhal, P.A.; de Kovel, C.; Nijman, I.J.; van Haelst, M.; Knoers, N.V.; van Haaften, G.; Kloosterman, W.; Hennekam, R.C.; Cuppen, E.; Ploos van Amstel, H.K.

2012-01-01

BACKGROUND: We present a large Dutch family with seven males affected by a novel syndrome of X-linked intellectual disability, hypogonadism, gynaecomastia, truncal obesity, short stature and recognisable craniofacial manifestations resembling but not identical to Wilson-Turner syndrome. Seven female

Regulatory divergence of X-linked genes and hybrid male sterility in mice.

Science.gov (United States)

Oka, Ayako; Shiroishi, Toshihiko

2014-01-01

Postzygotic reproductive isolation is the reduction of fertility or viability in hybrids between genetically diverged populations. One example of reproductive isolation, hybrid male sterility, may be caused by genetic incompatibility between diverged genetic factors in two distinct populations. Genetic factors involved in hybrid male sterility are disproportionately located on the X chromosome. Recent studies showing the evolutionary divergence in gene regulatory networks or epigenetic effects suggest that the genetic incompatibilities occur at much broader levels than had previously been thought (e.g., incompatibility of protein-protein interactions). The latest studies suggest that evolutionary divergence of transcriptional regulation causes genetic incompatibilities in hybrid animals, and that such incompatibilities preferentially involve X-linked genes. In this review, we focus on recent progress in understanding hybrid sterility in mice, including our studies, and we discuss the evolutionary significance of regulatory divergence for speciation.

X-linked adult-onset adrenoleukodystrophy: Psychiatric and neurological manifestations.

Science.gov (United States)

Shamim, Daniah; Alleyne, Karen

2017-01-01

Adult-onset adrenoleukodystrophy is a rare x-linked inborn error of metabolism occurring predominantly in males with onset in early 30s. Here, we report a 34-year-old male with first signs of disease in early 20s manifesting as a pure psychiatric disorder. Prior to onset of neurological symptoms, this patient demonstrated a schizophrenia and bipolar-like presentation. The disease progressed over the next 10-13 years and his memory and motor problems became evident around the age of 33 years. Subsequently, diagnostic testing showed the typical magnetic resonance imaging and lab findings for adult-onset adrenoleukodystrophy. This case highlights adult-onset adrenoleukodystrophy which may present as a pure psychiatric disturbance in early adulthood and briefly discusses the prolonged time between the onset of psychiatric symptoms and the onset of neurological disease.

Juvenile Prostitution.

Science.gov (United States)

Csapo, Marg

1986-01-01

Recent research and Canadian government committee reports concerning juvenile prostitution are reviewed. Proposals are made in the realms of law and social policy; and existing programs are described. (DB)

Implementation outcomes of Multidimensional Family Therapy-Detention to Community: a reintegration program for drug-using juvenile detainees.

Science.gov (United States)

Liddle, Howard A; Dakof, Gayle A; Henderson, Craig; Rowe, Cindy

2011-06-01

Responding to urgent calls for effective interventions to address young offenders' multiple and interconnected problems, a new variant of an existing empirically-validated intervention for drug-using adolescents, Multidimensional Family Therapy (MDFT)-Detention to Community (DTC) was tested in a two-site controlled trial. This article (a) outlines the rationale and protocol basics of the MDFT-DTC intervention, a program for substance-using juvenile offenders that links justice and substance abuse treatment systems to facilitate adolescents' post-detention community reintegration; (b) presents implementation outcomes, including fidelity, treatment engagement and retention rates, amount of services received, treatment satisfaction, and substance abuse-juvenile justice system collaboration outcomes; and (c) details the implementation and sustainability challenges in a cross-system (substance abuse treatment and juvenile justice) adolescent intervention. Findings support the effectiveness of the MDFT-DTC intervention, and the need to develop a full implementation model in which transfer and dissemination issues could be explored more fully, and tested experimentally.

Drugs + HIV, Learn the Link

Medline Plus

Full Text Available ... projects/learn-link-drugs-hiv . 120x90 460x80 486x60 Social Media Send the message to young people and ... HIV/AIDS and the discovery of promising treatment interventions for breaking the harmful links between them, we ...

A novel AVPR2 splice site mutation leads to partial X-linked nephrogenic diabetes insipidus in two brothers.

Science.gov (United States)

Schernthaner-Reiter, Marie Helene; Adams, David; Trivellin, Giampaolo; Ramnitz, Mary Scott; Raygada, Margarita; Golas, Gretchen; Faucz, Fabio R; Nilsson, Ola; Nella, Aikaterini A; Dileepan, Kavitha; Lodish, Maya; Lee, Paul; Tifft, Cynthia; Markello, Thomas; Gahl, William; Stratakis, Constantine A

2016-05-01

X-linked nephrogenic diabetes insipidus (NDI, OMIM#304800) is caused by mutations in the arginine vasopressin (AVP, OMIM*192340) receptor type 2 (AVPR2, OMIM*300538) gene. A 20-month-old boy and his 8-year-old brother presented with polyuria, polydipsia, and failure to thrive. Both boys demonstrated partial DDAVP (1-desamino-8-D AVP or desmopressin) responses; thus, NDI diagnosis was delayed. While routine sequencing of AVPR2 showed a potential splice site variant, it was not until exome sequencing confirmed the AVPR2 splice site variant and did not reveal any more likely candidates that the patients' diagnosis was made and proper treatment was instituted. Both patients were hemizygous for two AVPR2 variants predicted in silico to affect AVPR2 messenger RNA (mRNA) splicing. A minigene assay revealed that the novel AVPR2 c.276A>G mutation creates a novel splice acceptor site leading to 5' truncation of AVPR2 exon 2 in HEK293 human kidney cells. Both patients have been treated with high-dose DDAVP with a remarkable improvement of their symptoms and accelerated linear growth and weight gain. We present here a unique case of partial X-linked NDI due to an AVPR2 splice site mutation; patients with diabetes insipidus of unknown etiology may harbor splice site mutations that are initially underestimated in their pathogenicity on sequence analysis. • X-linked nephrogenic diabetes insipidus is caused by AVPR2 mutations, and disease severity can vary depending on the functional effect of the mutation. What is New: • We demonstrate here that a splice site mutation in AVPR2 leads to partial X-linked NDI in two brothers. • Treatment with high-dose DDAVP led to improvement of polyuria and polydipsia, weight gain, and growth.

Further evidence of periodontal bone pathology in a juvenile specimen of Australopithecus africanus from Sterkfontein, South Africa

CSIR Research Space (South Africa)

Ripamonti, U

1997-04-01

Full Text Available The dentition and alveolar bone of a maxilla of a juvenile Australopithecus africanus have been examined using a high energy X-ray computed tomography scanner. Results indicate the presence of previously undetected severe alveolar bone loss...

Drugs + HIV, Learn the Link

Medline Plus

Full Text Available ... site. Please link these banners back to this site at: http://www.drugabuse.gov/news-events/public-education-projects/learn-link-drugs-hiv . 120x90 460x80 486x60 Social Media Send the message to young people and to ...

Using Goal Achievement Training in juvenile justice settings to improve substance use services for youth on community supervision.

Science.gov (United States)

Fisher, Jacqueline Horan; Becan, Jennifer E; Harris, Philip W; Nager, Alexis; Baird-Thomas, Connie; Hogue, Aaron; Bartkowski, John P; Wiley, Tisha

2018-04-30

The link between substance use and involvement in the juvenile justice system has been well established. Justice-involved youth tend to have higher rates of drug use than their non-offending peers. At the same time, continued use can contribute to an elevated risk of recidivism, which leads to further, and oftentimes more serious, involvement with the juvenile justice system. Because of these high rates of use, the juvenile justice system is well positioned to help identify youth with substance use problems and connect them to treatment. However, research has found that only about 60% of juvenile probation agencies screen all youth for substance involvement, and even fewer provide comprehensive assessment or help youth enroll in substance use treatment. This paper describes an integrated training curriculum that was developed to help juvenile justice agencies improve their continuum of care for youth probationers with substance use problems. Goal Achievement Training (GAT) provides a platform for continuous quality improvement via two sessions delivered onsite to small groups of staff from juvenile justice and behavioral health agencies. In the first session, participants are taught to identify goals and goal steps for addressing identified areas of unmet need (i.e., screening, assessment, and linkage to treatment services). In the second session, participants learn principles and strategies of data-driven decision-making for achieving these goals. This paper highlights GAT as a model for the effective implementation of cost-efficient training strategies designed to increase self-directed quality improvement activities that can be applied to any performance domain within juvenile justice settings. Efforts to monitor implementation fidelity of GAT within the specific context of the juvenile justice settings are highlighted. Challenges to setting the stage for process improvement generally, as well as specific hurdles within juvenile justice settings are discussed

The contribution of color to visual memory in X-chromosome-linked dichromats.

Science.gov (United States)

Gegenfurtner, K R; Wichmann, F A; Sharpe, L T

1998-04-01

We used a recognition memory paradigm to assess the visual memory of X-chromosome-linked dichromats for color images of natural scenes. The performance of 17 protanopes and 14 deuteranopes, who lack the second (red-green opponent) subsystem of color vision, but retain the primordial (yellow-blue opponent) subsystem, was compared with that of 36 color normal observers. During the presentation phase, 48 images of natural scenes were displayed on a CRT for durations between 50 and 1000 msec. Each image was followed by a random noise mask. Half of the images were presented in color and half in black and white. In the subsequent query phase, the same 48 images were intermixed with 48 new images and the subjects had to indicate which of the images they had already seen during the presentation phase. We find that the performance of the color normal observers increases with exposure duration. However, they perform 5-10% better for colored than for black and white images, even at exposure durations as short as 50 msec. Surprisingly, performance is not impaired for the dichromats, whose recognition performance is also better for colored than for black and white images. We conclude either that X-chromosome-linked dichromats may be able to compensate for their reduced chromatic information range when viewing complex natural scenes or that the chromatic information in most natural scenes, for the durations tested, is sufficiently represented by the surviving primordial color subsystem.

Drugs + HIV, Learn the Link

Medline Plus

Full Text Available ... at: http://www.drugabuse.gov/news-events/public-education-projects/learn-link-drugs-hiv . 120x90 460x80 486x60 Social Media Send the message to young people and to parents, teachers, and the media about the link between drug ...

Dental management of patients with X-linked hypophosphatemia

Directory of Open Access Journals (Sweden)

Bin-Na Lee

2017-05-01

Full Text Available X-linked hypophosphatemia (XLH is a hereditary metabolic disease caused by the loss of phosphate through the renal tubules into the urine, and an associated decrease in serum calcium and potassium phosphate. Its dental features include spontaneous dental abscesses that occur in the absence of trauma or dental caries. The aim of this case report was to describe the dental problems of XLH patients and to evaluate limitations in their treatment. A 14 year old male and a 38 year old female with XLH were referred to the Department of Conservative Dentistry for endodontic treatment. The dental findings were periapical abscesses without obvious trauma or caries. Conservative endodontic treatment was performed in teeth with pulp necrosis and abscess. In case 1, the treated teeth showed improvements in bone healing, without clinical symptoms. However, in case 2, the implants and the treated tooth showed hypermobility, and the final restoration was therefore postponed. Early diagnosis, periodic examinations, and communication with the patient's pediatrician are important in the dental management of patients with XLH

Mutation pattern in the Bruton's tyrosine kinase gene in 26 unrelated patients with X-linked agammaglobulinemia

DEFF Research Database (Denmark)

Vorechovský, I; Luo, L; Hertz, Jens Michael

1997-01-01

Mutation pattern was characterized in the Bruton's tyrosine kinase gene (BTK) in 26 patients with X-linked agammaglobulinemia, the first described immunoglobulin deficiency, and was related to BTK expression. A total of 24 different mutations were identified. Most BTK mutations were found to result...

Imágenes juveniles, medios y nuevos escenarios

Directory of Open Access Journals (Sweden)

Oscar Aguilera Ruiz

2015-01-01

Full Text Available Este artículo nace del análisis de los discursos radiales producidos exclusivamente para jóvenes en Santiago de Chile. Aborda además las categorías comprensivas de la vida juvenil, la vida juvenil de los años 90, el imaginario juvenil des-simbolizado, hacia una comprensión de lo juvenil, dinámica social propuesta por los medios y estrategias comunicacionales.

A novel UBE2A mutation causes X-linked intellectual disability type Nascimento.

Science.gov (United States)

Tsurusaki, Yoshinori; Ohashi, Ikuko; Enomoto, Yumi; Naruto, Takuya; Mitsui, Jun; Aida, Noriko; Kurosawa, Kenji

2017-01-01

X-linked intellectual disability (ID) type Nascimento (MIM #300860), also known as ubiquitin-conjugating enzyme E2 A (UBE2A) deficiency syndrome, is a congenital malformation syndrome characterized by moderate to severe ID, speech impairment, dysmorphic facial features, genital anomalies and skin abnormalities. Here, we report a Japanese patient with severe ID and congenital cataract. We identified a novel hemizygous mutation (c.76G>A, p.Gly26Arg) in UBE2A by whole-exome sequencing.

Prevalência de anticorpos contra peptídeos cíclicos citrulinados na artrite idiopática juvenil The prevalence of anti-cyclic citrullinated peptide antibodies in juvenile idiopathic arthritis

Directory of Open Access Journals (Sweden)

Sandra H. Machado

2005-12-01

Full Text Available OBJETIVOS: Avaliar a presença de anticorpos contra peptídeos cíclicos citrulinados em uma coorte de pacientes com artrite idiopática juvenil. MÉTODOS: A presença de anticorpos contra peptídeos cíclicos citrulinados foi avaliada por ensaio imunoenzimático (ELISA no soro de pacientes com artrite idiopática juvenil com idade inferior a 18 anos, acompanhados no ambulatório de reumatologia pediátrica do Hospital de Clínicas de Porto Alegre, com tempo de diagnóstico de doença de, no mínimo, 6 meses. Também foi estudada a presença do fator reumatóide IgM e do fator antinuclear em células Hep-2 RESULTADOS: Foram analisadas amostras séricas de 45 pacientes com artrite idiopática juvenil. A presença de títulos elevados de anticorpos contra peptídeos cíclicos citrulinados foi encontrada somente no soro de uma criança (2%, a qual apresentava quadro de poliartrite com fator reumatóide reagente. CONCLUSÕES: O anticorpo contra peptídeos cíclicos citrulinados pode ser detectado em crianças com artrite idiopática juvenil, mas em freqüência muito inferior aos adultos com artrite reumatóide. Torna-se importante avaliar se anticorpos contra peptídeos cíclicos citrulinados podem identificar os pacientes com artrite idiopática juvenil com potencial de evolução para artrite reumatóide do adulto.OBJECTIVES: To assess the presence of anti-cyclic citrullinated peptide antibodies in a cohort of patients with juvenile idiopathic arthritis. METHODS: Anti-cyclic citrullinated peptide antibodies was tested for with an enzyme linked immunoabsorbent assay (ELISA in serum samples of patients from the Hospital de Clínicas de Porto Alegre, all less than 18 years old and with previous diagnosis for at least 6 months. IgMRF (rheumatoid factor and antinuclear antibodies in Hep-2 cells were also assayed. RESULTS: Serum samples were analyzed from 45 patients. The presence of high levels of anti-cyclic citrullinated peptide antibodies was found

Carrier detection in X-linked ocular albinism of the Nettleship-Falls type by DNA analysis

NARCIS (Netherlands)

Bergen, A. A.; Schuurman, E. J.; van den Born, L. I.; Samanns, C.; van Dorp, D. B.; Pinckers, A. J.; Bakker, E.; van Ommen, G. J.; Gal, A.; Bleeker-Wagemakers, E. M.

1992-01-01

X-linked ocular albinism (XOA) is characterized by anomalies of the eyes and hypopigmentation or absence of pigment in skin, hair and eyes due to a hereditary inborn error of metabolism affecting the pigment cells. The gene of XOA of the Nettleship-Falls type (OA1) has been mapped to Xp22.3, and

Vegetative propagation of mature and juvenile northern red oak

Science.gov (United States)

James J. Zaczek; K. C. Steiner; C. W., Jr. Heuser

1993-01-01

Rooting trials were established to evaluate rooting success of cuttings from mature and juvenile, grafted and ungrafted northern red oak (NRO). Buds from 4 mature NRO ortets and juvenile seedlings were grafted onto juvenile and mature rootstock. Cuttings were collected from the grafts and from juvenile and mature shoots developed in situ and...

Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1

NARCIS (Netherlands)

Jensen, L.R.; Chen, W.; Moser, B.; Lipkowitz, B.; Schroeder, C.; Musante, L.; Tzschach, A.; Kalscheuer, V.M.M.; Meloni, I.; Raynaud, M.; Esch, H. van; Chelly, J.; Brouwer, A.P. de; Hackett, A.; Haar, S. van der; Henn, W.; Gecz, J.; Riess, O.; Bonin, M.; Reinhardt, R.; Ropers, H.H.; Kuss, A.W.

2011-01-01

X-linked intellectual disability (XLID), also known as X-linked mental retardation, is a highly genetically heterogeneous condition for which mutations in >90 different genes have been identified. In this study, we used a custom-made sequencing array based on the Affymetrix 50k platform for mutation

Antibodies in juvenile-onset myositis.

Science.gov (United States)

Tansley, Sarah L

2016-11-01

Juvenile-onset myositis is a highly heterogeneous disease. Myositis-specific and associated autoantibodies provide a potential means of subdividing patients into clinically homogenous subgroups. Given the increasing availability of autoantibody testing, this review explores the phenotypes associated with different autoantibodies in juvenile-onset myositis and the potential clinical utility of autoantibody testing. Autoantibodies can be identified in 60-70% of children with myositis and the recent discovery of novel myositis-associated autoantibodies in adult patients suggests this may increase in the near future. Detailed phenotype descriptions are now known for several autoantibodies commonly identified in juvenile-onset disease. Whilst there is insufficient evidence to recommend a differential treatment approach based on autoantibody status, it is becoming increasingly clear that some autoantibody subgroups are often treatment resistant and may benefit from a more aggressive approach. The validation of nonspecialised methods for myositis-specific autoantibody detection should lead to more widely available testing. In juvenile-onset disease, this will provide detailed prognostic information and in the future may also influence approach.

REFORMATIONS IN ZIMBABWE'S JUVENILE JUSTICE SYSTEM

African Journals Online (AJOL)

Mugumbate

1996-05-23

May 23, 1996 ... The article is based on a desk review of existing literature on juvenile crime in the country. ... that Zimbabwe's juvenile justice system is transforming from being ... recommendations include expanding the Pre-trial Diversion ...

Spring northward juvenile migration of the Patagonian grenadier (Macruronus magellanicus from the Northwest Patagonian waters of Chile

Directory of Open Access Journals (Sweden)

Luis A Cubillos

2015-11-01

Full Text Available Important nursery grounds for Patagonian grenadier (Macruronus magellanicus are located mainly in the Northwest Patagonian Inner Sea (42ºS-44ºS, from which juvenile must to disperse or migrate offshore, then along the Chilean coast either northward or southward. The objective of this paper was to estimate northward spring juvenile migration of the Patagonian grenadier from nursery to feeding areas, which are located near Talcahuano (35º00’S-37º10’S. Length-frequency data (LFD were obtained from an acoustic survey carried out in November 1999, which covered from 35ºS to 47ºS. Generalized linear model was used to describe the presence of juvenile per latitude and depth, and to infer the origin and displacement of juveniles. Subsequently, LFD data were grouped according to latitudinal strata. Grouped LFD were decomposed into normal component groups, from which mean, standard deviation and proportion were estimated from the mixed LFD. The average length of the identified groups were sorted from south to north, and linked to compute significant increment in fish length and age per kilometers. The length increment per time was not due to growth, rather they was due to spatial displacement of juvenile from southern nursery grounds to northern feeding areas. Although homing to feeding areas and/or high residency (partial migration have been postulated, it seems that recruitment of juveniles to northern feeding areas are origintaed from NPIS nurseries. The West Wind Drift Current seems to be the main drive for dispersion of Patagonian grenadier to recruit northward in open waters along the continental shelf.

Physiological Arousal in Autism and Fragile X Syndrome: Group Comparisons and Links with Pragmatic Language

Science.gov (United States)

Klusek, Jessica; Martin, Gary E.; Losh, Molly

2013-01-01

This study tested the hypothesis that pragmatic (i.e., social) language impairment is linked to arousal dysregulation in autism spectrum disorder (ASD) and fragile X syndrome (FXS). Forty boys with ASD, 39 with FXS, and 27 with typical development (TD), aged 4-15 years, participated. Boys with FXS were hyperaroused compared to boys with TD but did…

Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease

Science.gov (United States)

Bustamante, Jacinta; Arias, Andres A; Vogt, Guillaume; Picard, Capucine; Galicia, Lizbeth Blancas; Prando, Carolina; Grant, Audrey V; Marchal, Christophe C; Hubeau, Marjorie; Chapgier, Ariane; de Beaucoudrey, Ludovic; Puel, Anne; Feinberg, Jacqueline; Valinetz, Ethan; Jannière, Lucile; Besse, Céline; Boland, Anne; Brisseau, Jean-Marie; Blanche, Stéphane; Lortholary, Olivier; Fieschi, Claire; Emile, Jean-François; Boisson-Dupuis, Stéphanie; Al-Muhsen, Saleh; Woda, Bruce; Newburger, Peter E; Condino-Neto, Antonio; Dinauer, Mary C; Abel, Laurent; Casanova, Jean-Laurent

2011-01-01

Germline mutations in CYBB, the human gene encoding the gp91phox subunit of the phagocyte NADPH oxidase, impair the respiratory burst of all types of phagocytes and result in X-linked chronic granulomatous disease (CGD). We report here two kindreds in which otherwise healthy male adults developed X-linked recessive Mendelian susceptibility to mycobacterial disease (MSMD) syndromes. These patients had previously unknown mutations in CYBB that resulted in an impaired respiratory burst in monocyte-derived macrophages but not in monocytes or granulocytes. The macrophage-specific functional consequences of the germline mutation resulted from cell-specific impairment in the assembly of the NADPH oxidase. This ‘experiment of nature’ indicates that CYBB is associated with MSMD and demonstrates that the respiratory burst in human macrophages is a crucial mechanism for protective immunity to tuberculous mycobacteria. PMID:21278736

X-linked adrenoleukodystrophy: clinical and laboratory findings in 15 Brazilian patients

Directory of Open Access Journals (Sweden)

Carmen R. Vargas

2000-06-01

Full Text Available Adrenoleukodystrophy (X-ALD is an X-linked recessively inherited peroxisomal disorder, phenotypically heterogeneous, characterized by progressive white-matter demyelination of the central nervous system and adrenocortical insufficiency. We investigated 15 male X-ALD patients varying in age from 7 to 39, diagnosed among 108 suspected patients referred for investigation. Plasma levels of very long chain fatty acids (VLCFA were measured at our laboratory using gas chromatography (GC. Eleven cases of childhood X-ALD and four cases of adrenomyeloneuropathy (AMN were diagnosed. Adrenal leukodystrophy insufficiency and limb weakness were the most frequent symptoms, appearing in 12, 8 and 6 of the patients, respectively. Physician awareness of X-ALD seems inadequate to judge by age at diagnosis and lengthy interval between the start of symptoms and diagnosis. This is the first published series of Brazilian patients with X-ALD. We determined signs and symptoms relevant for diagnosis, as early identification seems important for treatment outcome. In addition, diagnosis identifies carriers, who could benefit from genetic counselling and prenatal diagnosis.Adrenoleucodistrofia (X-ALD é uma desordem peroxissomal com padrão de herança ligada ao X, fenotipicamente heterogênea, caracterizada por uma progressiva desmielinização da substância branca do sistema nervoso central e por insuficiência adrenal. Foram investigados por nós 15 pacientes do sexo masculino com sinais clínicos sugestivos de X-ALD, com idade entre 7 e 39 anos, diagnosticados entre 108 pacientes encaminhados para investigação por suspeita clínica. Os níveis plasmáticos dos ácidos graxos de cadeia muito longa (VLCFA foram dosados em nosso laboratório através de cromatografia gasosa (GC. Onze (73% casos da forma infantil de X-ALD (ALD e 4 (27% casos de adrenomieloneuropatia (AMN foram diagnosticados. Insuficiência leucodistrofia adrenal e fraqueza muscular foram os sinais mais

A Practical Approach to Juvenile Dermatomyositis and Juvenile Scleroderma.

Science.gov (United States)

McCann, Liza J; Pain, Clare E

2016-02-01

Juvenile dermatomyositis and juvenile scleroderma are rare multisystem autoimmune disorders. Although they share some pathognomonic hallmarks with adult onset myositis or scleroderma, there are significant differences in presentation, characteristics and associated features when the diseases present in childhood. In view of this, and the rarity of the conditions, it is important for care to be led by teams with expertise in pediatric rheumatology conditions. Prognosis has improved significantly in the West; likely due to early diagnosis and aggressive treatment with immunosuppressive medications. However, this trend is not replicated in the developing world. Early recognition of these diseases is crucial to achieve rapid and sustained remission and prevent disease or medication associated complications. This article aims to provide a practical overview for recognition, diagnosis and treatment of these conditions.

Adolescent neglect, juvenile delinquency and the risk of recidivism.

Science.gov (United States)

Ryan, Joseph P; Williams, Abigail B; Courtney, Mark E

2013-03-01

Victims of child abuse and neglect are at an increased risk of involvement with the juvenile justice and adult correctional systems. Yet, little is known about the continuation and trajectories of offending beyond initial contact with law enforcement. Neglect likely plays a critical role in continued offending as parental monitoring, parental rejection and family relationships are instrumental in explaining juvenile conduct problems. This study sought to determine whether neglect is associated with recidivism for moderate and high risk juvenile offenders in Washington State. Statewide risk assessments and administrative records for child welfare, juvenile justice, and adult corrections were analyzed. The sample was diverse (24 % female, 13 % African American, 8 % Hispanic, 5 % Native American) and included all moderate and high risk juvenile offenders screened by juvenile probation between 2004 and 2007 (n = 19,833). Official records from child protection were used to identify juvenile offenders with a history of child neglect and to identify juvenile offenders with an ongoing case of neglect. Event history models were developed to estimate the risk of subsequent offending. Adolescents with an ongoing case neglect were significantly more likely to continue offending as compared with youth with no official history of neglect. These findings remain even after controlling for a wide range of family, peer, academic, mental health, and substance abuse covariates. Interrupting trajectories of offending is a primary focus of juvenile justice. The findings of the current study indicate that ongoing dependency issues play a critical role in explaining the outcomes achieved for adolescents in juvenile justice settings. The implications for improved collaboration between child welfare and juvenile justice are discussed.

Do juveniles bully more than young offenders?

Science.gov (United States)

Ireland, Jane L

2002-04-01

This study compares bullying behaviour among juvenile and young offenders and incorporates two different methods to measure bullying. Ninety-five male juvenile and 196 male young offenders completed two questionnaires, one that measured bullying directly and one that measured behaviours indicative of "being bullied" or of "bullying others". Juveniles perceived a higher extent of bullying than young offenders. Juveniles reported significantly more physical, psychological or verbal and overall direct forms of bullying behaviour than young offenders. A number of differences were found between juveniles and young offenders with regard to the types of prisoners likely to become victims, who they would advise a victim to speak to and how bullying could be prevented. The results are discussed in relation to developmental theories of aggression and how bullying behaviour can be defined and measured among prisoners. Copyright 2002 The Association for Professionals in Services for Adolescents. Published by Elsevier Science Ltd. All rights reserved.

An unusual presentation of juvenile lupus nephritis

Directory of Open Access Journals (Sweden)

Malleshwar Bottu

2016-01-01

Full Text Available The incidence of juvenile lupus varies widely ranging between 4 and 250 per 100,000 population. Most common organ involvement in juvenile lupus is kidney. Neurological, cutaneous and hematological involvements are also involved. Skeletal muscle involvement in the form of myositis is rare. Myositis as presenting manifestation in juvenile lupus is also unusual. Herein, we report one such case wherein myositis preceded the onset of lupus nephritis

Laser capture microdissection of gonads from juvenile zebrafish

DEFF Research Database (Denmark)

Jørgensen, Anne; Nielsen, John; Morthorst, Jane Ebsen

2009-01-01

was adjusted and optimised to isolate juvenile zebrafish gonads. Results: The juvenile zebrafish gonad is not morphologically distinguishable when using dehydrated cryosections on membrane slides and a specific staining method is necessary to identify the gonads. The protocol setup in this study allows......Background: Investigating gonadal gene expression is important in attempting to elucidate the molecular mechanism of sex determination and differentiation in the model species zebrafish. However, the small size of juvenile zebrafish and correspondingly their gonads complicates this type...... of investigation. Furthermore, the lack of a genetic sex marker in juvenile zebrafish prevents pooling gonads from several individuals. The aim of this study was to establish a method to isolate the gonads from individual juvenile zebrafish allowing future investigations of gonadal gene expression during sex...

Larval and small juvenile cod Gadus morhua concentrated in the highly productive areas of a shelf break front

DEFF Research Database (Denmark)

Munk, Peter; Larsson, P.O.; Danielsen, D.

1995-01-01

describe the identified nursery areas of larvae/juveniles and analyse the connection between the distribution of cod and hydrographical (frontal) characteristics of the areas. A total area of 67000 km(2) was covered by stations in a 10 x 10 nautical mile grid. Salinity, temperature, NO3+NO2 and chlorophyll...... part of the investigation area, and within the zone of the front we observed enhanced primary production and abundance of both phyto- and zooplankton. The distribution of larval and juvenile cod was also related to the hydrography, the abundance of cod peaked within a restricted zone...

Extending juvenility in grasses

Energy Technology Data Exchange (ETDEWEB)

Kaeppler, Shawn; de Leon Gatti, Natalia; Foerster, Jillian

2017-04-11

The present invention relates to compositions and methods for modulating the juvenile to adult developmental growth transition in plants, such as grasses (e.g. maize). In particular, the invention provides methods for enhancing agronomic properties in plants by modulating expression of GRMZM2G362718, GRMZM2G096016, or homologs thereof. Modulation of expression of one or more additional genes which affect juvenile to adult developmental growth transition such as Glossy15 or Cg1, in conjunction with such modulation of expression is also contemplated. Nucleic acid constructs for down-regulation of GRMZM2G362718 and/or GRMZM2G096016 are also contemplated, as are transgenic plants and products produced there from, that demonstrate altered, such as extended juvenile growth, and display associated phenotypes such as enhanced yield, improved digestibility, and increased disease resistance. Plants described herein may be used, for example, as improved forage or feed crops or in biofuel production.

X-linked agammaglobulinemia - first case with Bruton tyrosine kinase mutation from Pakistan.

Science.gov (United States)

Zaidi, Samreen Kulsom; Qureshi, Sonia; Qamar, Farah Naz

2017-03-01

X-linked agammaglobulinemia (XLA) is a primary immunodeficiency with more than 600 mutations in Bruton tyrosine kinase (Bkt) gene which are responsible for early-onset agammaglobulinemia and repeated infections. Herein we present a case of a 3-year-old boy with history of repeated diarrhoea and an episode of meningoencephalitis with hemiplegia. The workup showed extremely low levels of immunoglobulin with low CD+19 cells. Genetic analysis showed Btk mutation 18 c.1883delCp.T628fs. To the best of our knowledge this is the first report of a case of XLA confirmed by molecular technique from Pakistan.

Drugs + HIV, Learn the Link

Medline Plus

Full Text Available ... at: http://www.drugabuse.gov/news-events/public-education-projects/learn-link-drugs-hiv . 120x90 460x80 486x60 Social Media Send the message to young people and to parents, teachers, and the media about the link between drug misuse and HIV. Post on Facebook or Twitter ; add photos to your Flickr , ...

Carrier detection in X-linked retinitis pigmentosa by multipoint DNA analysis. Problems due to genetic heterogeneity

NARCIS (Netherlands)

Bergen, A. A.; Platje, E. J.; Craig, I.; Bakker, E.; Bleeker-Wagemakers, E. M.; van Ommen, G. J.

1991-01-01

DNA diagnosis of X-linked retinitis pigmentosa (XLRP) is hampered by its genetic heterogeneity, while a clinical subdivision is almost impossible to make. So far, diagnostic services have been offered only to those families in which linkage to one RP locus (RP2 or RP3) has been clearly established.

Apparent X-linked primary ciliary dyskinesia associated with retinitis pigmentosa and a hearing loss.

Science.gov (United States)

Krawczyński, Maciej R; Dmeńska, Hanna; Witt, Michał

2004-01-01

Three brothers, one 10-year-old and a pair of 14-year-old dizygotic twins--expressed the classical, early-onset retinitis pigmentosa (RP) with typical ophthalmoscopic findings, night blindness, visual field constricted to 10 degrees and flat ERG response. All three brothers were also diagnosed with primary ciliary dyskinesia (PCD) and had recurrent respiratory infections, chronic sinusitis and bronchiectasis. In all of them, resection of the middle lobe of the right lung was performed. A similar clinical picture of coexisting RP and PCD was noted in the brother of the probands' mother. All probands displayed situs solitus. Consistent with the X-linked mode of RP inheritance, there were also three obligatory female carriers of the disorder in this family: the mother of the affected boys, her mother and a daughter of her brother. In all of them, retinitis pigmentosa "sine pigmento" was found with milder but clinically significant symptoms (mild night blindness, visual field constricted to 30 degrees, and scotopic and photopic ERG responses reduced to 30-60%). No extraocular symptoms were detected in any of the heterozygous female carriers. This family presents an example of two rare phenomena: X-linked dominant retinitis pigmentosa (with milder expression in females) and a rare combination of RP with recurrent respiratory infections due to PCD.

Cold hardiness increases with age in juvenile Rhododendron populations

Directory of Open Access Journals (Sweden)

Rajeev eArora

2014-10-01

Full Text Available Winter survival in woody plants is controlled by environmental and genetic factors that affect the plant's ability to cold acclimate. Because woody perennials are long-lived and often have a prolonged juvenile (pre-flowering phase, it is conceivable that both chronological and physiological age factors influence adaptive traits such as stress tolerance. This study investigated annual cold hardiness (CH changes in several hybrid Rhododendron populations based on Tmax, an estimate of the maximum rate of freezing injury (ion leakage in cold-acclimated leaves from juvenile progeny. Data from F2 and backcross populations derived from R. catawbiense and R. fortunei parents indicated significant annual increases in Tmax ranging from 3.7 to to 6.4 C as the seedlings aged from 3 to 5 years old. A similar yearly increase (6.7° C was observed in comparisons of 1- and 2-year-old F1 progenies from a R. catawbiense x R. dichroanthum cross. In contrast, CH of the mature parent plants (> 10 years old did not change significantly over the same evaluation period. In leaf samples from a natural population of R. maximum, CH evaluations over two years resulted in an average Tmax value for juvenile 2- to 3- year- old plants that was 9.2 C lower than the average for mature (~30 years old plants. . A reduction in CH was also observed in three hybrid rhododendron cultivars clonally propagated by rooted cuttings (ramets - Tmax of 4-year-old ramets was significantly lower than the Tmax estimates for the 30- to 40-year-old source plants (ortets. In both the wild R. maximum population and the hybrid cultivar group, higher accumulation of a cold-acclimation responsive 25kDa leaf dehydrin was associated with older plants and higher CH. The feasibility of identifying hardy phenotypes at juvenile period and research implications of age-dependent changes in CH are discussed.

Law & psychiatry: punishing juveniles who kill.

Science.gov (United States)

Appelbaum, Paul S

2012-10-01

Punishment of juvenile murderers forces policy makers to weigh the developmental immaturity of adolescents against the heinousness of their crimes. The U.S. Supreme Court has progressively limited the severity of punishments that can be imposed on juveniles, holding that their impulsivity, susceptibility to peer pressure, and more fluid character render them less culpable for their actions. Having eliminated the death penalty as a punishment, the Court recently struck down mandatory life sentences without prospect of parole. The decision is interesting for its emphasis on rehabilitation, opening the door to further restrictions on punitive sentences for juveniles-and perhaps for adults too.

Maxillary distraction osteogenesis for treatment of cleft lip and palate in a patient with X-linked agammaglobulinemia.

Science.gov (United States)

Sato, Yutaka; Mishimagi, Takashi; Katsuki, Yuko; Harada, Kiyoshi

2014-07-01

X-linked agammaglobulinemia (XLA) is a congenital immune deficiency disorder caused by abnormal antibody production. It is a rare disease with an estimated frequency of 1 in 379,000 that has X-linked recessive heredity and develops only in males. The clinical problems include bacterial infection such as otitis media, sinusitis, and bronchitis. In recent years it has become possible to diagnose XLA in the early stage and intravenous immunoglobulin replacement therapy has permitted survival to adulthood. However, there have been no reports of oral surgery in patients with XLA. Here, we describe a case in which immunoglobulin replacement therapy given pre- and postoperatively was used to control infection in oral surgery and maxillary distraction osteogenesis performed for improving occlusion and appearance of a cleft lip and palate in a patient with XLA. Copyright © 2014 American Association of Oral and Maxillofacial Surgeons. Published by Elsevier Inc. All rights reserved.

New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome

Energy Technology Data Exchange (ETDEWEB)

Jouet, M.; Kenwick, S. [Univ. of Cambridge (United Kingdom); Moncla, A. [Hopital d`Enfants de la Timone, Marseillas (United Kingdom)] [and others

1995-06-01

The neural cell-adhesion molecule L1 is involved in intercellular recognition and neuronal migration in the CNS. Recently, we have shown that mutations in the gene encoding L1 are responsible for three related disorders; X-linked hydrocephalus, MASA (mental retardation, aphasia, shuffling gait, and adducted thumbs) syndrome, and spastic paraplegia type I (SPG1). These three disorders represent a clinical spectrum that varies not only between families but sometimes also within families. To date, 14 independent L1 mutations have been reported and shown to be disease causing. Here we report nine novel L1 mutations in X-linked hydrocephalus and MASA-syndrome families, including the first examples of mutations affecting the fibronectin type III domains of the molecule. They are discussed in relation both to phenotypes and to the insights that they provide into L1 function. 39 refs., 5 figs., 3 tabs.

Suspected X-linked facial dysmorphia and growth retardation in related Labrador retriever puppies.

Science.gov (United States)

Dierks, C; Hoffmann, H; Heinrich, F; Hellige, M; Hewicker-Trautwein, M; Distl, O

2017-02-01

Seven male Labrador retriever puppies from four different litters were identified with a brachycephalic-like face and skull, associated with low birth weight, severe growth retardation, and reduced abilities to crawl and suckle, which were not compatible with survival. Excessive doming of the cranium, brachygnathia superior and inferior, and an abnormally opened fontanelle were found in all affected puppies by computed tomography and at post-mortem examination. Pedigree analysis supported an X-linked recessive mode of inheritance. Copyright © 2017 Elsevier Ltd. All rights reserved.

Newborn screening for X-linked adrenoleukodystrophy: further evidence high throughput screening is feasible.

Science.gov (United States)

Theda, Christiane; Gibbons, Katy; Defor, Todd E; Donohue, Pamela K; Golden, W Christopher; Kline, Antonie D; Gulamali-Majid, Fizza; Panny, Susan R; Hubbard, Walter C; Jones, Richard O; Liu, Anita K; Moser, Ann B; Raymond, Gerald V

2014-01-01

X-linked adrenoleukodystrophy (ALD) is characterized by adrenal insufficiency and neurologic involvement with onset at variable ages. Plasma very long chain fatty acids are elevated in ALD; even in asymptomatic patients. We demonstrated previously that liquid chromatography tandem mass spectrometry measuring C26:0 lysophosphatidylcholine reliably identifies affected males. We prospectively applied this method to 4689 newborn blood spot samples; no false positives were observed. We show that high throughput neonatal screening for ALD is methodologically feasible. Copyright © 2013 Elsevier Inc. All rights reserved.

[Paediatric retinal detachment and hereditary vitreoretinal disorders].

Science.gov (United States)

Meier, P

2013-09-01

The number of retinal detachments in children is very low in comparison to the number in adults. One predisposing factor for development of paediatric retinal detachment is suffering from hereditary vitreoretinal degeneration (e.g., Stickler syndrome, Wagner syndrome, Kniest dysplasia, familial exudative vitreoretinopathy, congenital X-linked retinoschisis, Knobloch syndrome, incontinentia pigmenti, Norrie disease). Hereditary vitreoretinopathies are characterised by an abnormal-appearing vitreous gel with associated retinal changes. In most of these eyes further ocular abnormalities can be diagnosed. A group of hereditary disorders is associated with characteristic systemic abnormalities. Allied conditions should be considered in the clinical diagnosis. Vitreoretinopathies are the most common cause of inherited retinal detachment. In most eyes primary vitrectomy is necessary, and disease-specific surgical treatment is discussed. Georg Thieme Verlag KG Stuttgart · New York.

Role of the X-linked gene GPR174 in autoimmune Addison's disease.

Science.gov (United States)

Napier, C; Mitchell, A L; Gan, E; Wilson, I; Pearce, S H S

2015-01-01

Autoimmune endocrinopathies demonstrate a profound gender bias, but the reasons for this remain obscure. The 1000 genes on the X chromosome are likely to be implicated in this inherent susceptibility; various theories, including skewed X chromosome inactivation and fetal microchimerism, have been proposed. GPR174 is an Xq21 putative purinergic receptor that is widely expressed in lymphoid tissues. A single-nucleotide polymorphism, rs3827440, encoding Ser162Pro, has recently been associated with Graves' disease in Chinese and Polish populations, suggesting a role of this X chromosome gene in autoimmune disease. We investigated the role of rs3827440 in a UK cohort of patients with autoimmune Addison's disease (AAD). Samples from 286 AAD cases and 288 healthy controls were genotyped using TaqMan single-nucleotide polymorphism genotyping assays (C_25954273_10) on the Applied Biosystems 7900HT Fast real-time PCR system. Using a dominant (present/absent) model, the serine-encoding T allele of rs3827440 was present in 189 of 286 AAD patients (66%) compared with 132 of 288 unaffected controls (46%) [P = .010, odds ratio 1.80 (5%-95% confidence interval 1.22-2.67)]. An allele dosage model found a significant excess of the T allele in AAD patients compared with controls [P = .03, odds ratio 1.34 (5%-95% confidence interval 1.07-1.67)]. We have demonstrated a significant association of this X chromosome-encoded immunoreceptor with AAD for the first time. This X-linked gene could have a more generalized role in autoimmunity pathogenesis: G protein-coupled receptors are promising drugable targets, and further work to elucidate the functional role of GPR174 is now warranted.

Development of consensus treatment plans for juvenile localized scleroderma: a roadmap toward comparative effectiveness studies in juvenile localized scleroderma.

Science.gov (United States)

Li, Suzanne C; Torok, Kathryn S; Pope, Elena; Dedeoglu, Fatma; Hong, Sandy; Jacobe, Heidi T; Rabinovich, C Egla; Laxer, Ronald M; Higgins, Gloria C; Ferguson, Polly J; Lasky, Andrew; Baszis, Kevin; Becker, Mara; Campillo, Sarah; Cartwright, Victoria; Cidon, Michael; Inman, Christi J; Jerath, Rita; O'Neil, Kathleen M; Vora, Sheetal; Zeft, Andrew; Wallace, Carol A; Ilowite, Norman T; Fuhlbrigge, Robert C

2012-08-01

Juvenile localized scleroderma (LS) is a chronic inflammatory skin disorder associated with substantial morbidity and disability. Although a wide range of therapeutic strategies has been reported in the literature, a lack of agreement on treatment specifics and accepted methods for clinical assessment has made it difficult to compare approaches and identify optimal therapy. Our objective was to develop standardized treatment plans, clinical assessments, and response criteria for active, moderate to high severity juvenile LS. A core group of pediatric rheumatologists, dermatologists, and a lay advisor was engaged by the Childhood Arthritis and Rheumatology Research Alliance (CARRA) to develop standardized treatment plans and assessment parameters for juvenile LS using consensus methods/nominal group techniques. Recommendations were validated in 2 face-to-face conferences with a larger group of practitioners with expertise in juvenile LS and with the full membership of CARRA, which encompasses the majority of pediatric rheumatologists in the US and Canada. Consensus was achieved on standardized treatment plans that reflect the prevailing treatment practices of CARRA members. Standardized clinical assessment methods and provisional treatment response criteria were also developed. Greater than 90% of pediatric rheumatologists responding to a survey (66% of CARRA membership) affirmed the final recommendations and agreed to utilize these consensus plans to treat patients with juvenile LS. Using consensus methodology, we have developed standardized treatment plans and assessment methods for juvenile LS. The high level of support among pediatric rheumatologists will support future comparative effectiveness studies and enable the development of evidence-based guidelines for the treatment of juvenile LS. Copyright © 2012 by the American College of Rheumatology.

ECHOGRAPHY POTENTIAL IN DIAGNOSTICS OF THE KNEE JOINT IMPAIRMENT IN THE EVENT OF THE JUVENILE ARTHRITIDES

Directory of Open Access Journals (Sweden)

N.V. Osipova

2008-01-01

Full Text Available The juvenile rheumatoid arthritis (JRA is one of the most widely spread rheumatic diseases among children, which is characterized by the steady progressive run, rapidly leading to the disability. Among numerous JRA manifestations, one of the leading is the joint syndrome with children mostly suffering from the knee joint impairment. With JRA, the initial changes in the joints affect the joint tissues and articular cartilage, while the bone changes evolve at the late stages of the disease. As a result, the echography plays an important role in the early arthritides diagnostics if compared to the x ray study and computerized tomography. To identify the typical features of the knee joint impairment, 97 children with JRA and 16 children with the juvenile spondyl arthritis (JSA underwent the high pitched linear transducer assisted echography. The overwhelming majority of patients showed the changes in the hyaline cartilage. The hyperechoic enlargements in the depth of the cartilage were typical of JRA, while the cartilage thinning was typical of JSA. About a half of the patients showed the effusion. Over a third of the patients showed the changes in the cortical layer of the articular bone surface.Key words: juvenile rheumatoid arthritis, juvenile spondyl arthritis, diagnostics, knee joint echography, children.

The semantic sphere of juvenile offenders

Directory of Open Access Journals (Sweden)

Oshevsky D.S.

2017-01-01

Full Text Available The article presents the results of a preliminary empirical study aimed to identify features of the semantic sphere of adolescents who have committed illegal, including aggressive acts. The study included 50 male juveniles aged of 16 - 17 years. The first group consisted of adolescents convicted of aggressive and violent crimes; the second – of property socially dangerous acts (SDA. It is shown that evaluation of such adolescents is generally categorical and polar, the semantic field is subdifferentiable, less hierarchic, and has not enough realistic structure of meanings. Developed structure of motives and meanings is the basis of voluntary regulation of socially significant behavior. Thus, assessing the semantic sphere of juvenile offenders we can highlight its characteristics as risk factors of unlawful behavior, as well as the resource side, that will contribute to addressing issues of prevention and correction of unlawful behavior. Key words: juvenile offenders, semantic field of juvenile offenders, unlawful behavior.

Differential heritability of adult and juvenile antisocial traits.

Science.gov (United States)

Lyons, M J; True, W R; Eisen, S A; Goldberg, J; Meyer, J M; Faraone, S V; Eaves, L J; Tsuang, M T

1995-11-01

Studies of adult antisocial behavior or criminality usually find genetic factors to be more important than the family environment, whereas studies of delinquency find the family environment to be more important. We compared DSM-III-R antisocial personality disorder symptoms before vs after the age of 15 years within a sample of twins, rather than comparing across studies. We administered the Diagnostic Interview Schedule Version III-revised by telephone to 3226 pairs of male twins from the Vietnam Era Twin Registry. Biometrical modeling was applied to each symptom of antisocial personality disorder and summary measures of juvenile and adult symptoms. Five juvenile symptoms were significantly heritable, and five were significantly influenced by the shared environment. Eight adult symptoms were significantly heritable, and one was significantly influenced by the shared environment. The shared environment explained about six times more variance in juvenile anti-social traits than in adult traits. Shared environmental influences on adult antisocial traits overlapped entirely with those on juvenile traits. Additive genetic factors explained about six times more variance in adult vs juvenile traits. The juvenile genetic determinants overlapped completely with genetic influences on adult traits. The unique environment (plus measurement error) explained the largest proportion of variance in both juvenile and adult antisocial traits. Characteristics of the shared or family environment that promote antisocial behavior during childhood and early adolescence also promote later antisocial behavior, but to a much lesser extent. Genetic causal factors are much more prominent for adult than for juvenile antisocial traits.

Skin barrier properties in patients with recessive X-linked ichthyosis

DEFF Research Database (Denmark)

Johansen, J D; Ramsing, D; Vejlsgaard, G

1995-01-01

increased in controls compared to ichthyosis patients, when evaluated by TEWL. When evaluated by erythema index a statistically significant increase in redness was found in controls, but not in ichthyosis patients. Electrical capacitance, reflecting skin hydration, was significantly reduced in RXLI patients......Patients with X-linked recessive ichthyosis (RXLI) were studied as a model of the effect of disturbed epidermal lipid composition on skin barrier function. Thirteen patients with RXLI and 15 age- and sex-matched controls were patch-tested with sodium lauryl sulphate (SLS) 0.5% for 24 h. Basal skin...... properties and skin response to SLS were studied by measurement of transepidermal water loss (TEWL), electrical capacitance and erythema index. No statistically significant difference in basal TEWL was found between the two groups. The skin response to SLS was found to be statistically significantly...

Juveniles' Motivations for Remaining in Prostitution

Science.gov (United States)

Hwang, Shu-Ling; Bedford, Olwen

2004-01-01

Qualitative data from in-depth interviews were collected in 1990-1991, 1992, and 2000 with 49 prostituted juveniles remanded to two rehabilitation centers in Taiwan. These data are analyzed to explore Taiwanese prostituted juveniles' feelings about themselves and their work, their motivations for remaining in prostitution, and their difficulties…

DERMATOMIOSITIS JUVENIL Y EMBARAZO

OpenAIRE

Evans M,Gregorio; Poulsen R,Ronald; Blanco R,Romiely; Luna V,Viviana

2002-01-01

La dermatomiositis juvenil es un desorden inflamatorio crónico multisistémico del tejido conectivo. Tiene una incidencia de 2-3/100.000/año. Con la disminución en la mortalidad experimentada en los últimos decenios, la atención está cifrada en la morbilidad a largo plazo y en las alteraciones funcionales. Con un tratamiento agresivo los niños con dermatomiositis juvenil generalmente tienen un futuro promisorio, sin incapacidad o con incapacidad mínima. La mortalidad actualmente se estima cerc...

Clarifying the link between childhood abuse history and psychopathic traits in adult criminal offenders

Science.gov (United States)

Dargis, Monika; Newman, Joseph; Koenigs, Michael

2015-01-01

Childhood abuse is a risk factor for the development of externalizing characteristics and disorders, including antisocial personality disorder and psychopathy. However, the precise relationships between particular types of childhood maltreatment and subsequent antisocial and psychopathic traits remain unclear. Using a large sample of incarcerated adult male criminal offenders (n = 183), the current study confirmed that severity of overall childhood maltreatment was linked to severity of both psychopathy and antisocial personality disorder in adulthood. Moreover, this relationship was particularly strong for physical abuse and the antisocial facet of psychopathy. Sexual abuse history was uniquely related to juvenile conduct disorder severity, rather than adult psychopathy or antisocial behaviors. Additionally, there was a significantly stronger relationship between childhood maltreatment and juvenile conduct disorder than between childhood maltreatment and ASPD or psychopathy. These findings bolster and clarify the link between childhood maltreatment and antisocial behavior later in life. PMID:26389621

X-ray-induced changes in growth of Mozambique tilapia

International Nuclear Information System (INIS)

Jana, B.B.; Basu, M.

1995-01-01

Early fry (30 d postfertilization) and 7-8-week-old Mozambique tilapias (Tilapia mossambica) were exposed to X rays in dosages of 50, 100, 200, 300, 400 or 500 roentgens and reared in outdoor culture tanks between May 1981 and October 1988. Fish of either sex that were irradiated as fry grew faster than controls at all test X-ray doses. Among fish irradiated at 7-8 weeks, males grew significantly faster, but females grew significantly slower, than controls at all test doses. X-ray-induced changes in growth were dose-dependent: growth rates of fry (both sexes) and of juvenile males rose relative to those of controls with increased radiation dose. The growth increase per unit of radiation dose was higher for fry than for older juveniles. The length-weight regression was steeper for irradiated males than for controls. The average weights of F 1 offspring of irradiated fish were greatly reduced as compared with controls, which suggests the transfer of the detrimental effects of X rays from irradiated parents to their offspring. 39 refs., 3 figs., 3 tabs

X-linked gene expression in the Virginia opossum: differences between the paternally derived Gpd and Pgk-A loci

Energy Technology Data Exchange (ETDEWEB)

Samollow, P.B.; Ford, A.L.; VandeBerg, J.L.

1987-01-01

Expression of X-linked glucose-6-phosphate dehydrogenase (G6PD) and phosphoglycerate kinase-A (PGK-A) in the Virginia opossum (Didelphis virginiana) was studied electrophoretically in animals from natural populations and those produced through controlled laboratory crosses. Blood from most of the wild animals exhibited a common single-banded phenotype for both enzymes. Rare variant animals, regardless of sex, exhibited single-banded phenotypes different in mobility from the common mobility class of the respective enzyme. The laboratory crosses confirmed the allelic basis for the common and rare phenotypes. Transmission of PGK-A phenotypes followed the pattern of determinate (nonrandom) inactivation of the paternally derived Pgk-A allele, and transmission of G6PD also was consistent with this pattern. A survey of tissue-specific expression of G6PD phenotypes of heterozygous females revealed, in almost all tissues, three-banded patterns skewed in favor of the allele that was expressed in blood cells. Three-banded patterns were never observed in males or in putatively homozygous females. These patterns suggest simultaneous, but unequal, expression of the maternally and paternally derived Gpd alleles within individual cells. The absence of such partial expression was noted in a parallel survey of females heterozygous at the Pgd-A locus. Thus, it appears that Gpd and Pgk-A are X-linked in D. virginiana and subject to preferential paternal allele inactivation, but that dosage compensation may not be complete for all paternally derived X-linked genes.

AFSC/ABL: Juvenile rockfish DNA species identification

Data.gov (United States)

National Oceanic and Atmospheric Administration, Department of Commerce — Many pelagic juvenile rockfish (Sebastes) were collected in juvenile salmonid surveys in the Gulf of Alaska (GOA) from 1998 to 2002. Often species identification of...

Algorithm of dynamic stabilization system for a car 4x4 with a link rear axle

Directory of Open Access Journals (Sweden)

M. M. Jileikin

2014-01-01

Full Text Available The slow development of active safety systems of the automobile all-wheel drive vehicles is the cause of lack of researches in the field of power distribution under the specific conditions of movement. The purpose of work is to develop methods to control a curvilinear motion of 4x4 cars with a link to the rear axle that provides the increase in directional and trajectory stability of the car. The paper analyses the known methods to increase wheeled vehicles movement stability. It also offers a method for power flow redistribution in the transmission of the car 4x4 with a link to the rear axle, providing the increase in directional and trajectory stability of the car.To study the performance and effectiveness of the proposed method a mathematical model of the moving car 4x4 with a link to the rear axle is developed. Simulation methods allowed us to establish the following:1. for car 4x4 with redistribution of torque between the driving axles in the range of 100:0 - 50:50 and with redistribution of torque between the wheels of the rear axle in the range of 0:100 the most effective are the stabilization algorithms used in combination “Lowing power consumption of the engine +Creation of stabilizing the moment due to the redistribution of torque on different wheels", providing the increase in directional and trajectory stability by 12...93%;2. for car 4x4 with redistribution of torque between the driving axles in the range 100:0 - 0:100 and with redistribution of torque between the wheels of the rear axle in the range of 0:100 the best option is a combination of algorithms "Lowing power consumption of the engine + Creation of stabilizing moment due to redistribution of torques on different wheels", providing the increase in directional and trajectory stability by 27...93%.A comparative analysis of algorithms efficiency of dynamic stabilization system operation for two-axle wheeled vehicles depending on the torque redistribution between the driving

"Scared Straight" and other juvenile awareness programs for preventing juvenile delinquency.

Science.gov (United States)

Petrosino, A; Turpin-Petrosino, C; Buehler, J

2002-01-01

'Scared Straight' and other programmes involve organised visits to prison by juvenile delinquents or children at risk for criminal behavior. programmes are designed to deter participants from future offending through first-hand observation of prison life and interaction with adult inmates. These programmes remain in use world-wide despite studies and reviews questioning their effectiveness. To assess the effects of programmes comprising organised visits to prisons by juvenile delinquents (officially adjudicated or convicted by a juvenile court) or pre-delinquents (children in trouble but not officially adjudicated as delinquents), aimed at deterring them from criminal activity. Handsearching by the first author in identifying randomised field trials 1945-1993 relevant to criminology was augmented by structured searches of 16 electronic data bases, including the Campbell SPECTR database of trials and the Cochrane CCTR. Experts in the field were consulted and relevant citations were followed up. Studies that tested the effects of any program involving the organised visits of juvenile delinquents or children at-risk for delinquency to penal institutions were included. Studies that included overlapping samples of juvenile and young adults (e.g. ages 14-20) were included. We only considered studies that randomly or quasi-randomly (i.e. alternation) assigned participants to conditions. Each study had to have a no-treatment control condition with at least one outcome measure of "post-visit" criminal behavior. We report narratively on the nine eligible trials. We conducted one meta-analysis of post-intervention offending rates using official data. Information from other sources (e.g. self-report) was either missing from some studies or critical information was omitted (e.g. standard deviations). We examined the immediate post-treatment effects (i.e. "first-effects") by computing Odds Ratios (OR) for data on proportions of each group re-offending, and assumed both fixed and

X-linked recessive panhypopituitarism associated with a regional duplication in Xq25-q26.

Science.gov (United States)

Lagerström-Fermér, M; Sundvall, M; Johnsen, E; Warne, G L; Forrest, S M; Zajac, J D; Rickards, A; Ravine, D; Landegren, U; Pettersson, U

1997-01-01

We present a linkage analysis and a clinical update on a previously reported family with X-linked recessive panhypopituitarism, now in its fourth generation. Affected members exhibit variable degrees of hypopituitarism and mental retardation. The markers DXS737 and DXS1187 in the q25-q26 region of the X chromosome showed evidence for linkage with a peak LOD score (Zmax) of 4.12 at zero recombination fraction (theta(max) = 0). An apparent extra copy of the marker DXS102, observed in the region of the disease gene in affected males and heterozygous carrier females, suggests that a segment including this marker is duplicated. The gene causing this disorder appears to code for a dosage-sensitive protein central to development of the pituitary. Images Figure 2 PMID:9106538

Preventing Juvenile Delinquency

Directory of Open Access Journals (Sweden)

Carolina dos Reis

2016-04-01

Full Text Available This article aims to problematize discourses about protection and care that have surrounded compulsory hospitalization by evidencing its use as a control and punishment mechanism that increases the social vulnerability of young drug users. For such, we analyze lawsuits involving juveniles who were consigned to psychiatric institutions for drug addiction treatment as a protection measure in the state of Rio Grande do Sul, in Brazil. The analysis of the materials has evidenced discourses that have circumscribed young drug users and constructed this population as potentially dangerous subjects as well as a population category at risk. In this sense, we point out how compulsory hospitalization has emerged out of the lawsuits as a tool for prevention of juvenile delinquency.

Mapping X-linked ophthalmic diseases. IV. Provisional assignment of the locus for X-linked congenital cataracts and microcornea (the Nance-Horan syndrome) to Xp22.2-p22.3.

Science.gov (United States)

Lewis, R A; Nussbaum, R L; Stambolian, D

1990-01-01

The Nance-Horan syndrome (NHS) is an infrequent X-linked disorder typified by dense congenital central cataracts, microcornea, anteverted and simplex pinnae, brachymetacarpalia, and numerous dental anomalies. The regional location of the genetic mutation causing NHS is unknown. The authors applied the modern molecular techniques of analysis of restriction fragment length polymorphisms to five multigenerational kindreds in which NHS segregated. Provisional linkage is established to two DNA markers--DXS143 at Xp22.3-p22.2 and DXS43 at Xp22.2. Regional localization of NHS will provide potential antenatal diagnosis in families at risk for the disease and will enhance understanding of the multifaceted genetic defects.

The World of Juvenile Justice According to the Numbers

Science.gov (United States)

Rozalski, Michael; Deignan, Marilyn; Engel, Suzanne

2008-01-01

Intended to be an instructive, yet sobering, introduction to the complex and disturbing nature of the juvenile justice system, this article details the "numbers," including selected percentages, ratios, and dollar amounts, that are relevant to developing a better understanding of the juvenile justice system. General statistics about juvenile and…

HIV testing among non-incarcerated substance-abusing juvenile offenders.

Science.gov (United States)

Tolou-Shams, Marina; Conrad, Selby; Louis, Alaina; Shuford, Sarah Hart; Brown, Larry K

2015-11-01

Juvenile offenders are a subgroup of adolescents at particular risk for HIV/STI infection. Although HIV prevalence among these youth is low (justice system, which is known to have an extremely high rate of HIV infection. US constitutional mandates provide HIV/STI testing for incarcerated juveniles, but close to 80% of juvenile arrestees are never detained. Moreover, although they engage in similar HIV risk behaviors as those detained, they have limited access to available HIV/STI testing services. Thus, our study examined rates of lifetime HIV testing among a pilot sample of 60 court-involved, substance-using juveniles monitored in the community to explore rates of testing and the reasons related to lifetime testing among a high-risk, yet understudied US juvenile population.

Cone photoreceptor structure in patients with x-linked cone dysfunction and red-green color vision deficiency

DEFF Research Database (Denmark)

Patterson, Emily J.; Wilk, Melissa; Langlo, Christopher S.

2016-01-01

encoded by exon 4, and two with a novel insertion in exon 2. Foveal cone structure and retinal thickness was disrupted to a variable degree, even among related individuals with the same L/M array. CONCLUSIONS. Our findings provide a direct link between disruption of the cone mosaic and L/ M opsin variants......PURPOSE. Mutations in the coding sequence of the L and M opsin genes are often associated with X-linked cone dysfunction (such as Bornholm Eye Disease, BED), though the exact color vision phenotype associated with these disorders is variable. We examined individuals with L/ M opsin gene mutations...... to clarify the link between color vision deficiency and cone dysfunction.  METHODS. We recruited 17 males for imaging. The thickness and integrity of the photoreceptor layers were evaluated using spectral-domain optical coherence tomography. Cone density was measured using high-resolution images of the cone...

ZNF674: A New Kruppel-Associated Box-Containing Zinc-Finger Gene Involved in Nonsyndromic X-Linked Mental Retardation

NARCIS (Netherlands)

Lugtenberg, D.; Yntema, H.G.; Banning, M.J.G.; Oudakker, A.R.; Firth, H.; Willatt, L.; Raynaud, M.; Kleefstra, T.; Fryns, J.P.; Ropers, H.H.; Chelly, J.; Moraine, C.; Gecz, J.; Reeuwijk, J. van; Nabuurs, S.B.; Vries, L.B.A. de; Hamel, B.C.J.; Brouwer, A.P.M. de; Bokhoven, J.H.L.M. van

2006-01-01

Array-based comparative genomic hybridization has proven to be successful in the identification of genetic defects in disorders involving mental retardation. Here, we studied a patient with learning disabilities, retinal dystrophy, and short stature. The family history was suggestive of an X-linked

A Giant Juvenile Nasopharyngeal Angiofibroma

Science.gov (United States)

Yüce, Salim; Uysal, İsmail Önder; Doğan, Mansur; Polat, Kerem; Şalk, İsmail; Müderris, Suphi

2012-01-01

Juvenile nasopharyngeal angiofibroma (JNA) are locally growing highly vascular tumours. They are treated primarily by surgical excision ranging from open approach to endoscopic approach. We presented a 20-year-old male with a giant nasopharyngeal juvenile angiofibroma obliterating the pterygopalatine fossa bilaterally, invasing the sphenoid bone and extending to the left nasal passage. His complaints were epistaxis and nasal obstruction. After embolization, the patient was treated surgically with endoscopic approach and discharged as cured without any complication. PMID:23714961

Combination of Juvenile Papillomatosis, Juvenile Fibroadenoma and Intraductal Carcinoma of the Breast in a 15-Year-old Girl.

Science.gov (United States)

Sedloev, Theophil; Bassarova, Assia; Angelov, Kostadin; Vasileva, Mariela; Asenov, Yavor

2015-09-01

The association of juvenile papillomatosis with carcinoma is proven, but very rare, as there exist several reported cases. A 15-year-old girl with no family history of breast cancer presented with two masses in the left breast. The excisional biopsy on both lumps revealed juvenile fibroadenoma and juvenile papillomatosis epithelial proliferation multiple cystic expanded channels. In some of these channels, cytological features of intraductal carcinoma were observed. We performed a full immunohistochemical examination of the juvenile papillomatosis. The patient refused any further surgical or adjuvant treatment. There are no signs of recurrence in the 15 year follow-up. This case is a diagnostic and therapeutic challenge, taking into account the patient's age and the controversial treatment recommendations. Good collaboration between surgeons and pathologists is essential for an accurate diagnostic process and aims to avoid under- or overtreatment. Copyright© 2015 International Institute of Anticancer Research (Dr. John G. Delinassios), All rights reserved.

Challenges and prospects of the juvenile justice administration in ...

African Journals Online (AJOL)

Juvenile justice administration in Nigeria is weak and has been given very little priority, despite Nigeria being signatory to the major international instruments relevant to the administration of juvenile justice. This is attributable to the history of the penal system of Nigeria, with laws guiding juvenile justice administration having ...

X-linked lissencephaly with abnormal genitalia associated with renal phosphate wasting.

Science.gov (United States)

Hahn, A; Gross, C; Uyanik, G; Hehr, U; Hügens-Penzel, M; Alzen, G; Neubauer, B A

2004-06-01

X-linked lissencephaly with abnormal genitalia (XLAG) is a rare disorder caused by mutations in the aristaless-related homeobox (ARX) gene. We report on the clinical data of a boy with a 1-bp deletion (790 delC) resulting in a frame shift in the ARX gene and prolonged survival until age 18 months. Similar to other patients, the boy showed postnatal microcephaly, hypothalamic dysfunction, intractable neonatal seizures, and chronic diarrhoea. In addition, he suffered from exocrine pancreatic insufficiency and renal phosphate wasting became apparent from age 5 months, both of which have not been described previously in XLAG. This allows us to speculate that the phenotype of XLAG is more complex than hitherto known and may include renal phosphate wasting which might not have been observed in other patients due to early death.

A new mass mortality of juvenile Protoceratops and size-segregated aggregation behaviour in juvenile non-avian dinosaurs.

Directory of Open Access Journals (Sweden)

David W E Hone

Full Text Available BACKGROUND: Monodominant bonebeds are a relatively common occurrence for non-avian dinosaurs, and have been used to infer associative, and potentially genuinely social, behavior. Previously known assemblages are characterized as either mixed size-classes (juvenile and adult-sized specimens together or single size-classes of individuals (only juveniles or only adult-sized individuals within the assemblage. In the latter case, it is generally unknown if these kinds of size-segregated aggregations characterize only a particular size stage or represent aggregations that happened at all size stages. Ceratopsians ("horned dinosaurs" are known from both types of assemblages. METHODS/PRINCIPAL FINDINGS: Here we describe a new specimen of the ceratopsian dinosaur Protoceratops andrewsi, Granger and Gregory 1923 from Mongolia representing an aggregation of four mid-sized juvenile animals. In conjunction with existing specimens of groups of P. andrewsi that includes size-clustered aggregations of young juveniles and adult-sized specimens, this new material provides evidence for some degree of size-clustered aggregation behaviour in Protoceratops throughout ontogeny. This continuity of size-segregated (and presumably age-clustered aggregation is previously undocumented in non-avian dinosaurs. CONCLUSIONS: The juvenile group fills a key gap in the available information on aggregations in younger ceratopsians. Although we support the general hypothesis that many non-avian dinosaurs were gregarious and even social animals, we caution that evidence for sociality has been overstated and advocate a more conservative interpretation of some data of 'sociality' in dinosaurs.

A new mass mortality of juvenile Protoceratops and size-segregated aggregation behaviour in juvenile non-avian dinosaurs.

Science.gov (United States)

Hone, David W E; Farke, Andrew A; Watabe, Mahito; Shigeru, Suzuki; Tsogtbaatar, Khishigjav

2014-01-01

Monodominant bonebeds are a relatively common occurrence for non-avian dinosaurs, and have been used to infer associative, and potentially genuinely social, behavior. Previously known assemblages are characterized as either mixed size-classes (juvenile and adult-sized specimens together) or single size-classes of individuals (only juveniles or only adult-sized individuals within the assemblage). In the latter case, it is generally unknown if these kinds of size-segregated aggregations characterize only a particular size stage or represent aggregations that happened at all size stages. Ceratopsians ("horned dinosaurs") are known from both types of assemblages. Here we describe a new specimen of the ceratopsian dinosaur Protoceratops andrewsi, Granger and Gregory 1923 from Mongolia representing an aggregation of four mid-sized juvenile animals. In conjunction with existing specimens of groups of P. andrewsi that includes size-clustered aggregations of young juveniles and adult-sized specimens, this new material provides evidence for some degree of size-clustered aggregation behaviour in Protoceratops throughout ontogeny. This continuity of size-segregated (and presumably age-clustered) aggregation is previously undocumented in non-avian dinosaurs. The juvenile group fills a key gap in the available information on aggregations in younger ceratopsians. Although we support the general hypothesis that many non-avian dinosaurs were gregarious and even social animals, we caution that evidence for sociality has been overstated and advocate a more conservative interpretation of some data of 'sociality' in dinosaurs.

Sports Participation and Juvenile Delinquency: A Meta-Analytic Review.

Science.gov (United States)

Spruit, Anouk; van Vugt, Eveline; van der Put, Claudia; van der Stouwe, Trudy; Stams, Geert-Jan

2016-04-01

Participation in sports activities is very popular among adolescents, and is frequently encouraged among youth. Many psychosocial health benefits in youth are attributed to sports participation, but to what extent this positive influence holds for juvenile delinquency is still not clear on both the theoretical and empirical level. There is much controversy on whether sports participation should be perceived as a protective or a risk factor for the development of juvenile delinquency. A multilevel meta-analysis of 51 published and unpublished studies, with 48 independent samples containing 431 effect sizes and N = 132,366 adolescents, was conducted to examine the relationship between sports participation and juvenile delinquency and possible moderating factors of this association. The results showed that there is no overall significant association between sports participation and juvenile delinquency, indicating that adolescent athletes are neither more nor less delinquent than non-athletes. Some study, sample and sports characteristics significantly moderated the relationship between sports participation and juvenile delinquency. However, this moderating influence was modest. Implications for theory and practice concerning the use of sports to prevent juvenile delinquency are discussed.

Moral development of solo juvenile sex offenders

NARCIS (Netherlands)

van Vugt, E.; Stams, G.J.; Dekovic, M.; Brugman, D.; Rutten, E.; Hendriks, J.

2008-01-01

This study compared the moral development of solo juvenile male sex offenders (n = 20) and juvenile male non-offenders (n = 76), aged 13-19 years, from lower socioeconomic and educational backgrounds. The Moral Orientation Measure (MOM) was used to assess punishment- and victim-based moral

Juvenil idiopatisk arthritis

DEFF Research Database (Denmark)

Herlin, Troels

2002-01-01

The new classification of juvenile idiopathic arthritis (JIA) is described in this review. Clinical characteristics divide JIA in to subtypes: systemic, oligoarticular (persistent and extended type), RF-positive and--negative polyarticular, enthesitis-related arthritis and psoriatic arthritis...

Orofacial pain, jaw function, and temporomandibular disorders in adult women with a history of juvenile chronic arthritis or persistent juvenile chronic arthritis

DEFF Research Database (Denmark)

Bakke, M.; Zak, M.; Jensen, B.L.

2001-01-01

Orofacial pain, jaw function, temporomandibular disorders, adult women persistent juvenil chronic arthritis......Orofacial pain, jaw function, temporomandibular disorders, adult women persistent juvenil chronic arthritis...

Misdiagnosis of X-linked retinitis pigmentosa in a choroideremia patient with heavily pigmented fundi.

Science.gov (United States)

Nanda, A; Salvetti, A P; Martinez-Fernandez de la Camara, C; MacLaren, R E

2018-06-01

Inherited retinal diseases are thought to be the leading cause of sight loss in the working age population. Mutations found in the RPGR and CHM genes cause retinitis pigmentosa (RP) and choroideremia, respectively. In the first instance, an X-linked family history of visual field loss commonly raises the suspicion of one of these two genes. In choroideremia, the classic description of a white fundal reflex secondary to the widespread chorioretinal degeneration was made over a hundred years ago in Caucasians. But, it is not so obvious in heavily pigmented fundi. Hence, the clinical diagnosis of CHM in non-Caucasian patients may be challenging in the first stages of the disease. Here we report a case of a Southeast Asian gentleman who has a family history of X-linked retinal degeneration and was found to have a confirmed in-frame deletion of 12 DNA nucleotides in exon 15 of the RPGR gene. Later in life, however, his fundal appearance showed unusual areas of circular pigment hypertrophy and clumping. He was therefore tested for carrying a disease-causing mutation in the CHM gene and a null mutation was found. Since gene therapy trials are ongoing for both of these conditions, it has now become critically important to establish the correct genetic diagnosis in order to recruit suitable candidates. Moreover, this case demonstrates the necessity to remain vigilant in the interpretation of genetic results which are inconsistent with clinical features.

Differential Juvenile Hormone Variations in Scale Insect Extreme Sexual Dimorphism.

Directory of Open Access Journals (Sweden)

Isabelle Mifom Vea

Full Text Available Scale insects have evolved extreme sexual dimorphism, as demonstrated by sedentary juvenile-like females and ephemeral winged males. This dimorphism is established during the post-embryonic development; however, the underlying regulatory mechanisms have not yet been examined. We herein assessed the role of juvenile hormone (JH on the diverging developmental pathways occurring in the male and female Japanese mealybug Planococcus kraunhiae (Kuwana. We provide, for the first time, detailed gene expression profiles related to JH signaling in scale insects. Prior to adult emergence, the transcript levels of JH acid O-methyltransferase, encoding a rate-limiting enzyme in JH biosynthesis, were higher in males than in females, suggesting that JH levels are higher in males. Furthermore, male quiescent pupal-like stages were associated with higher transcript levels of the JH receptor gene, Methoprene-tolerant and its co-activator taiman, as well as the JH early-response genes, Krüppel homolog 1 and broad. The exposure of male juveniles to an ectopic JH mimic prolonged the expression of Krüppel homolog 1 and broad, and delayed adult emergence by producing a supernumeral pupal stage. We propose that male wing development is first induced by up-regulated JH signaling compared to female expression pattern, but a decrease at the end of the prepupal stage is necessary for adult emergence, as evidenced by the JH mimic treatments. Furthermore, wing development seems linked to JH titers as JHM treatments on the pupal stage led to wing deformation. The female pedomorphic appearance was not reflected by the maintenance of high levels of JH. The results in this study suggest that differential variations in JH signaling may be responsible for sex-specific and radically different modes of metamorphosis.

Juvenile Obesity, Physical Activity, and Lifestyle Changes.

Science.gov (United States)

Bar-Or, Oded

2000-01-01

Because many obese children become obese adults, the recent rapid increase in juvenile obesity poses a major public health challenge. Enhanced physical activity is a cornerstone in a multidisciplinary approach to preventing and treating juvenile obesity. Giving exercise recommendations focused for obese youth is critical. Cutting down on sedentary…

Preliminary evidence of altered biomechanics in adolescents with juvenile fibromyalgia.

Science.gov (United States)

Sil, Soumitri; Thomas, Staci; DiCesare, Christopher; Strotman, Daniel; Ting, Tracy V; Myer, Gregory; Kashikar-Zuck, Susmita

2015-01-01

Juvenile fibromyalgia (FM) is characterized by chronic musculoskeletal pain and marked reduction in physical activity. Despite recommendations for exercise to manage juvenile FM pain, exercise adherence is poor. Because of pain and activity avoidance, adolescents with juvenile FM are at risk for altered joint mechanics that may make them susceptible to increased pain and reduced tolerance for exercise. The primary aim of this study was to assess functional deficits in patients with juvenile FM compared to healthy controls using objective biomechanical assessment. Female adolescent patients with juvenile FM (n = 17) and healthy controls (n = 14) completed biomechanical assessments, including gait analysis and tests of lower extremity strength (isokinetic knee extension/flexion and hip abduction) and functional performance (drop vertical jump test) along with self-reported measures of disability (Functional Disability Inventory), pain intensity, depressive symptoms (Children's Depression Inventory), and fear of movement (Tampa Scale of Kinesiophobia). Patients with juvenile FM demonstrated mild deficiencies in walking gait and functional performance (P < 0.05 for both) and significantly lower left knee extension and flexion strength (18-22% deficit) and bilateral hip abduction strength (34-38%) compared with healthy controls (P < 0.008 for all). Patients with juvenile FM reported significantly higher functional disability, pain intensity, depressive symptoms, and fear of movement relative to controls (P < 0.01 for all). This study showed that adolescents with juvenile FM exhibited objective alterations in biomechanics and self-reported fear of movement that may have reinforced their activity avoidance. Interventions for juvenile FM should include a focus on correcting functional deficits and instilling greater confidence in adolescents with juvenile FM to engage in exercise to improve functional outcomes. Copyright © 2015 by the American College of Rheumatology.

Inter-calibration of three electric fishing techniques to estimate 0+ juvenile fish densities on sandy river beaches

Czech Academy of Sciences Publication Activity Database

Janáč, Michal; Jurajda, Pavel

2005-01-01

Roč. 12, č. 3 (2005), s. 161-167 ISSN 0969-997X R&D Projects: GA AV ČR(CZ) IAB6093106; GA ČR(CZ) GA524/02/0924 Institutional research plan: CEZ:AV0Z60930519 Keywords : electric fishing * 0+ juvenile fish * point abundance sampling Subject RIV: EH - Ecology, Behaviour Impact factor: 1.031, year: 2005

Examination of the influence of juvenile Atlantic salmon on the feeding mode of juvenile steelhead in Lake Ontario tributaries

Science.gov (United States)

Johnson, James H.; Waldt, Emily M.

2014-01-01

We examined diets of 1204 allopatric and sympatric juvenile Atlantic salmon (Salmo salar) and steelhead (Oncorhynchus mykiss) in three tributaries of Lake Ontario. The diet composition of both species consisted primarily of ephemeropterans, trichopterans, and chironomids, although juvenile steelhead consumed more terrestrial invertebrates, especially at the sympatric sites. Subyearlings of both species consumed small prey (i.e. chironomids) whereas large prey (i.e. perlids) made up a higher percentage of the diet of yearlings. The diet of juvenile steelhead at the allopatric sites was more closely associated with the composition of the benthos than with the drift, but was about equally associated with the benthos and drift at the sympatric sites. The diet of both subyearling and yearling Atlantic salmon was more closely associated with the benthos than the drift at the sympatric sites. The evidence suggests that juvenile steelhead may subtly alter their feeding behavior in sympatry with Atlantic salmon. This behavioral adaptation may reduce competitive interactions between these species.

Juvenile bottlenecks and salinity shape grey mullet assemblages in Mediterranean estuaries

Science.gov (United States)

Cardona, Luis; Hereu, Bernat; Torras, Xavier

2008-05-01

Previous research has suggested that competitive bottlenecks may exist for the Mediterranean grey mullets (Osteichthyes, Mugilidae) at the fry stage with the exotic Cyprinus carpio (Osteichthyes, Cyprinidae) playing a central role. As a consequence, the structure of grey mullet assemblages at later stages is thought to reflect previous competition as well as differences in osmoregulatory skills. This paper tests that hypothesis by examining four predictions about the relative abundance of five grey mullet species in 42 Western Mediterranean estuary sites from three areas (Aiguamolls de l'Empordà, Ebro Delta and Minorca) differing in the salinity level and occurrence of C. carpio. Field data confirmed the predictions as: (1) Liza aurata and Mugil cephalus were scarce everywhere and never dominated the assemblage; (2) Liza saliens dominated the assemblage where the salinity level was higher than 13; (3) Liza ramado always dominated the assemblage where the salinity level was lower than 13 and C. carpio was present; and (4) Chelon labrosus dominated the assemblage only where the salinity level was lower than 13 and C. carpio was absent. The catch per unit effort of C. labrosus of any size was smaller in the presence of C. carpio than where it had not been introduced, which is in agreement with the juvenile competitive bottleneck hypothesis. Discriminant analysis confirmed that the assemblage structure was linked to the salinity level and the occurrence of C. carpio for both early juveniles and late juveniles as well as adults. The data reported here reveal that the structure of grey mullet assemblages inhabiting Mediterranean estuaries is determined by salinity and competitive interactions at the fry stage.

Impact of Conventional Medical Therapy on Bone Mineral Density and Bone Turnover in Adult Patients with X-Linked Hypophosphatemia

DEFF Research Database (Denmark)

Shanbhogue, Vikram Vinod; Hansen, Stinus; Jørgensen, Niklas Rye

2018-01-01

X-linked hypophosphatemia (XLH) is a rare, inheritable disorder manifesting as rickets in children and osteomalacia in adults. While conventional medical treatment with oral phosphate and alfacalcidol is recommended in childhood, it is undecided whether adults should continue therapy. The aim...

X linked progressive cone dystrophy. Localisation of the gene locus to Xp21-p11.1 by linkage analysis

NARCIS (Netherlands)

Meire, F. M.; Bergen, A. A.; de Rouck, A.; Leys, M.; Delleman, J. W.

1994-01-01

Six affected males, three female carriers, and two possible carriers were evaluated from a three generation pedigree with X linked progressive cone dystrophy. The affected males presented with progressive decrease of visual acuity, impairment of colour vision, and deterioration of electroretinogram,

Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency?

DEFF Research Database (Denmark)

Orngreen, M.C.; Schelhaas, H.J.; Jeppesen, T.D.

2008-01-01

OBJECTIVE: It is unclear to what extent muscle phosphorylase b kinase (PHK) deficiency is associated with exercise-related symptoms and impaired muscle metabolism, because 1) only four patients have been characterized at the molecular level, 2) reported symptoms have been nonspecific, and 3......) lactate responses to ischemic handgrip exercise have been normal. METHODS: We studied a 50-year-old man with X-linked PHK deficiency using ischemic forearm and cycle ergometry exercise tests to define the derangement of muscle metabolism. We compared our findings with those in patients with Mc...... in healthy subjects. Constant workload elicited a second wind in all patients with McArdle disease, but not in the patient with PHK deficiency. IV glucose administration appeared to improve exercise tolerance in the patient with PHK deficiency, but not to the same extent as in the patients with Mc...

Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of familial exudative vitreoretinopathy.

Science.gov (United States)

Shastry, B S; Hejtmancik, J F; Trese, M T

1997-01-01

X-linked Familial Exudative Vitreoretinopathy (XLFEVR) is a hereditary eye disorder that affects both the retina and the vitreous body. It is characterized by an abnormal vascularization of the peripheral retina. It has been previously shown by linkage and candidate gene analysis that XLFEVR and Norrie disease are allelic. In this report we describe four novel mutations (R41K, H42R, K58N, and Y120C) in the Norrie disease gene associated with one X-linked and four sporadic cases of FEVR. One mutation (H42R) was found to be segregating with the disease in three generations (X-linked family), and the others are sporadic. These sequence alterations changed the encoded amino acids in the Norrie disease protein and were not found in 17 unaffected family members or in 36 randomly selected normal individuals. This study provides additional evidence that mutations in the same gene can result in FEVR and Norrie disease. It also demonstrates that it may be beneficial for clinical diagnosis to screen for mutations in the Norrie disease gene in sporadic FEVR cases.

Expanding phenotype of p.Ala140Val mutation in MECP2 in a 4 generation family with X-linked intellectual disability and spasticity.

Science.gov (United States)

Lambert, Sophie; Maystadt, Isabelle; Boulanger, Sébastien; Vrielynck, Pascal; Destrée, Anne; Lederer, Damien; Moortgat, Stéphanie

2016-10-01

Mutations in MECP2 (MIM #312750), located on Xq28 and encoding a methyl CpG binding protein, are classically associated with Rett syndrome in female patients, with a lethal effect in hemizygous males. However, MECP2 mutations have already been reported in surviving males with severe neonatal-onset encephalopathy, or with X-linked intellectual disability associated with psychosis, pyramidal signs, parkinsonian features and macro-orchidism (PPM-X syndrome; MIM3 #300055). Here we report on the identification of the p.Ala140Val mutation in the MECP2 gene in 4 males and 3 females of a large Caucasian family affected with X-linked intellectual disability. Females present with mild cognitive impairment and speech difficulties. Males have moderate intellectual disability, impaired language development, friendly behavior, slowly progressive spastic paraparesis and dystonic movements of the hands. Two of them show microcephaly. The p.Ala140Val mutation is recurrent, as it was already described in 4 families with X-linked mental retardation and in three sporadic male patients with intellectual disability. We further delineate the phenotype associated with the p.Ala140Val mutation, illustrating a variable expressivity even within a given family, and we compare our patients with previous reported cases in the literature. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

Intelligence Score Profiles of Female Juvenile Offenders

Science.gov (United States)

Werner, Shelby Spare; Hart, Kathleen J.; Ficke, Susan L.

2016-01-01

Previous studies have found that male juvenile offenders typically obtain low scores on measures of intelligence, often with a pattern of higher scores on measures of nonverbal relative to verbal tasks. The research on the intelligence performance of female juvenile offenders is limited. This study explored the Wechsler Intelligence Scale for…

Increased insula-putamen connectivity in X-linked dystonia-parkinsonism

Directory of Open Access Journals (Sweden)

Anne J. Blood

2018-01-01

Full Text Available Preliminary evidence from postmortem studies of X-linked dystonia-parkinsonism (XDP suggests tissue loss may occur first and/or most severely in the striatal striosome compartment, followed later by cell loss in the matrix compartment. However, little is known about how this relates to pathogenesis and pathophysiology. While MRI cannot visualize these striatal compartments directly in humans, differences in relative gradients of afferent cortical connectivity across compartments (weighted toward paralimbic versus sensorimotor cortex, respectively can be used to infer potential selective loss in vivo. In the current study we evaluated relative connectivity of paralimbic versus sensorimotor cortex with the caudate and putamen in 17 individuals with XDP and 17 matched controls. Although caudate and putamen volumes were reduced in XDP, there were no significant reductions in either “matrix-weighted”, or “striosome-weighted” connectivity. In fact, paralimbic connectivity with the putamen was elevated, rather than reduced, in XDP. This was driven most strongly by elevated putamen connectivity with the anterior insula. There was no relationship of these findings to disease duration or striatal volume, suggesting insula and/or paralimbic connectivity in XDP may develop abnormally and/or increase in the years before symptom onset.

Penalty responsibility of juveniles in the Republic of Srpska

Directory of Open Access Journals (Sweden)

Grbić-Pavlović Nikolina

2011-01-01

Full Text Available The youngest members of organized society, more intensive than ever enter the circle of those whose behavior is deviant. Juvenile delinquency is a social problem, which recently experienced an expansion in all modern countries, including Bosnia and Herzegovina and the Republic of Srpska. Considering the fact that juvenile delinquency includes lighter criminal conducts, such as, for example misdemeanors, in this paper a position of juveniles when they are a perpetrators of misdemeanors will be analyzed. Also, the paper will statistically show the number of misdemeanors in the field of public peace and order that juveniles conducted in the Republic of Srpska in the period 2004-2009.

Delincuencia y responsabilidad penal juvenil en Colombia

Directory of Open Access Journals (Sweden)

Cristina Montalvo Velásquez

2011-01-01

Full Text Available ResumenEl término «delincuencia juvenil» fue acuñado en Inglaterra en el año 1815, “Se entiende por delincuencia juvenil el conjunto de delitos, contravenciones o comportamientos socialmente reprochables, que cometen las personas consideradas como jóvenes por la ley”1 . Cada Estado está sujeto a su propio sistema jurídico, para algunos es delincuente juvenil el adolescente que comete acciones sancionadas por la ley sin importar su gravedad, otros Estados sólo consideran como delincuente juvenil al joven que comete un acto delictivo grave.El fenómeno de la delincuencia juvenil es algo que se inscribe en los espacios de una sociedad en la cual su estructura material, y su formación social consecuente, se halla en una profunda crisis. Que jóvenes conformen bandas de delincuencia organizada nos está indicando que son el resultado de la misma criminalidad general que se ha apoderado de la sociedad en la perspectiva de lograr sobrevivir materialmente. El capitalismo no es sólo acumulación de riqueza sino concentración de la misma en muy pocas manos; y todo el sistema institucional y legal tiende a favorecer ese fenómeno porque éste constituye la supra estructura del modo de producción capitalista. Así como los adultos se organizan para delinquir, lo hacen los niños y los jóvenes a partir de una edad en la cual pueden percibir que la sociedad no es sana y no tienen porvenir humano en ella. Abandonados y sujetos a la violencia que engendra el sistema, ellos simplemente responden en una manifestación de reflejos condicionados que sostienen la sobrevivencia en forma instintiva; “los niños no saben de normas legales sino de formas de sobrevivir a semejante situación; el instinto de sobrevivencia no tiene edades ni la normatividad puede incidir en él”.Palabras ClavesDelincuencia juvenil, Jóvenes, Criminalidad, Familia, Factores, Acto delictivo, Responsabilidad Penal.AbstractThe term “juvenile delinquency” was coined in

A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy.

Science.gov (United States)

Chen, Z Y; Battinelli, E M; Fielder, A; Bundey, S; Sims, K; Breakefield, X O; Craig, I W

1993-10-01

Familial exudative vitreoretinopathy (FEVR) is a hereditary disorder characterized by an abnormality of the peripheral retina. Both autosomal dominant (adFEVR) and X-linked (XLFEVR) forms have been described, but the biochemical defect(s) underlying the symptoms are unknown. Molecular analysis of the Norrie gene locus (NDP) in a four generation FEVR family (shown previously to exhibit linkage to the X-chromosome markers DXS228 and MAOA (Xp11.4-p11.3)) reveals a missense mutation in the highly conserved region of the NDP gene, which caused a neutral amino acid substitution (Leu124Phe), was detected in all of the affected males, but not in the unaffected family members, nor in normal controls. The observations suggest that phenotypes of both XLFEVR and Norrie disease can result from mutations in the same gene.

Evolution of Juvenile Ankylosing Spondylitis

Directory of Open Access Journals (Sweden)

Ye.V. Prohorov

2013-02-01

Full Text Available Evolution of juvenile ankylosing spondylitis tend to follow a more frequent involvement in the pathological process of elbow and ankle joints, development of enthesiopathies, changes of intraarticular meniscal horns, forming of Baker’s cysts, cartilage flaps and systemic osteoporosis, and total value of all these signs 13 times exceeds thereof in patients with with the debut of disease in adulthood, but for juvenile ankylosing spondylitis vertebral lesion is less common. Age dimorphism of the use of certain groups of drugs and physiotherapy facilities is observed.

Yolo Bypass Juvenile Salmon Utilization Study 2016—Summary of acoustically tagged juvenile salmon and study fish release, Sacramento River, California

Science.gov (United States)

Liedtke, Theresa L.; Hurst, William R.

2017-09-12

The Yolo Bypass is a flood control bypass in Sacramento Valley, California. Flood plain habitats may be used for juvenile salmon rearing, however, the potential value of such habitats can be difficult to evaluate because of the intermittent nature of inundation events. The Yolo Bypass Juvenile Salmon Utilization Study (YBUS) used acoustic telemetry to evaluate the movements and survival of juvenile salmon adjacent to and within the Yolo Bypass during the winter of 2016. This report presents numbers, size data, and release data (times, dates, and locations) for the 1,197 acoustically tagged juvenile salmon released for the YBUS from February 21 to March 18, 2016. Detailed descriptions of the surgical implantation of transmitters are also presented. These data are presented to support the collaborative, interagency analysis and reporting of the study findings.

Recurrent gastrointestinal hemorrhage in treatment with dasatinib in a patient showing SMAD4 mutation with acute lymphoblastic leukemia Philadelphia positive and juvenile polyposis hereditary hemorrhagic telangiectasia syndrome

Directory of Open Access Journals (Sweden)

Chiara Sartor

2013-07-01

Full Text Available We report a case of a patient affected by juvenile polyposis and hereditary hemorrhagic telangiectasia linked to a SMAD4 mutation who developed acute lymphoblastic leukemia positive for the Philadelphia chromosome translocation and with a complex karyotype. During the treatment with the tyrosine kinase inhibitor dasatinib the patient presented recurrent severe gastrointestinal hemorrhages linked to the genetic background and aggravated by thrombocytopenia.

Prevalence of traumatic brain injury in juvenile offenders: a meta-analysis.

Science.gov (United States)

Farrer, Thomas J; Frost, R Brock; Hedges, Dawson W

2013-01-01

Studies of traumatic brain injury (TBI) among adult populations demonstrate that such injuries can lead to aggressive behaviors. Related findings suggest that incarcerated individuals have high rates of brain injuries. Such studies suggest that traumatic brain injury may be related to the etiology and recidivism of criminal behavior. Relatively few studies have examined the prevalence of TBI using a delinquent juvenile sample. In order to assess the relationship between TBI and juvenile offender status, the current study used meta-analytic techniques to examine the odds of having a TBI among juvenile offenders. Across 9 studies, we found that approximately 30% of juvenile offenders have sustained a previous brain injury. Across 5 studies that used a control group, a calculated summary odds ratio of 3.37 suggests that juvenile offenders are significantly more likely to have a TBI compared to controls. Results suggest that the rate of TBIs within the juvenile offender population is significant and that there may be a relationship between TBIs and juvenile criminal behavior.

Effects of oxygen stoichiometry on the scaling behaviors of YBa{sub 2}Cu{sub 3}O{sub x} grain boundary weak-links

Energy Technology Data Exchange (ETDEWEB)

Wu, K.H.; Fu, C.M.; Jeng, W.J. [National Chiao-Tung Univ., Taiwan (China)] [and others

1994-12-31

The effects of oxygen stoichiometry on the transport properties of the pulsed laser deposited YBa{sub 2}Cu{sub 3}O{sub x} bicrystalline grain boundary weak-link junctions were studied. It is found that not only the cross boundary resistive transition foot structure can be manipulated repeatedly with oxygen annealling processes but the junction behaviors are also altered in accordance. In the fully oxygenated state i.e. with x=7.0 in YBa{sub 2}Cu{sub 3}O{sub x} stoichiometry, the junction critical current exhibits a power of 2 scaling behavior with temperature. In contrast, when annealed in the conditions of oxygen-deficient state (e.g. with x=6.9 in YBa{sub 2}Cu{sub 3}O{sub x} stoichiometry) the junction critical current switches to a linear temperature dependence behavior. The results are tentatively attributed to the modification of the structure in the boundary area upon oxygen annealing, which, in turn, will affect the effective dimension of the geometrically constrained weak-link bridges. The detailed discussion on the responsible physical mechanisms as well as the implications of the present results on device applications will be given.

The first de novo mutation of the connexin 32 gene associated with X linked Charcot-Marie-Tooth disease

NARCIS (Netherlands)

Meggouh, F.; Benomar, A.; Rouger, H.; Tardieu, S.; Birouk, N.; Tassin, J.; Barhoumi, C.; Yahyaoui, M.; Chkili, T.; Brice, A.; LeGuern, E.

1998-01-01

X linked Charcot-Marie-Tooth disease (CMTX) is a hereditary motor and sensory neuropathy caused by mutations in the connexin 32 gene (Cx32). Using the SSCP technique and direct sequencing of PCR amplified genomic DNA fragments of the Cx32 gene from a Moroccan patient and her relatives, we identified

Miastenia gravis juvenil Juvenile myasthenia gravis

OpenAIRE

Oscar Papazian; Israel Alfonso; Nayle Araguez

2009-01-01

La miastenia gravis juvenil (MGJ) es un trastorno crónico auto inmune en el cual existen anticuerpos séricos que al unirse a los receptores de acetilcolin nicotínicos de la membrana muscular de la placa motora alteran la transmisión neuromuscular. El resultado es fatiga muscular precoz con progresión a la parálisis durante estados de contracción muscular iterativos (movimientos) o sostenidos (posturas) y más raramente parálisis permanente durante el reposo. Los músculos inervados por los nerv...

Juvenile xanthogranuloma of the corneoscleral limbus.

Science.gov (United States)

Yanoff, M; Perry, H D

1995-07-01

Juvenile xanthogranuloma is a rare and usually benign skin disease of unknown cause that occurs in infants and young children. We studied a case of juvenile xanthogranuloma of the corneoscleral limbus in a 17-year-old black boy, who presented with a 5-month history of a lump in the right eye. The lesion extended from the superior limbus, fanning out as it proceeded posteriorly for 6 mm with a width of 9 mm and a height of 2 to 3 mm. This yellow-orange mass was vascular and firmly fixed to the underlying tissue. The lesion was diagnosed as a dermoid and observed for 7 months without documented growth before an uneventful excisional biopsy was performed. The pathologic diagnosis showed the characteristic picture of juvenile xanthogranuloma with numerous Touton giant cells. Lipid stains provided further confirmation.

Modelling population effects of juvenile offshore fish displacement towards adult habitat

DEFF Research Database (Denmark)

van de Wolfshaar, K.E.; Tulp, I.; Wennhage, H.

2015-01-01

consequences on population dynamics through changes in resource use and competition. To explore this, a conceptual stage-structured model was developed with 3 stages and 2 resources and allowing a move of large juveniles from the shallow to the deep habitat. Large juveniles compete with small juveniles...... in shallow waters and with adults in deeper waters. Alternative stable states occur, with one state dominated by small juvenile biomass and the other dominated by adult biomass. The model results show for both states that while large juvenile biomass responds to a change in time spent in the deep habitat...

Imaging of juvenile spondyloarthritis. Part I: Classifications and radiographs

Directory of Open Access Journals (Sweden)

Iwona Sudoł-Szopińska

2017-09-01

Full Text Available Juvenile spondyloarthropathies are manifested mainly by symptoms of peripheral arthritis and enthesitis. By contrast with adults, children rarely present with sacroiliitis and spondylitis. Imaging and laboratory tests allow early diagnosis and treatment. Conventional radiographs visualize late inflammatory lesions and post-inflammatory complications. Early diagnosis is possible with the use of ultrasonography and magnetic resonance imaging. The first part of the article presents classifications of juvenile spondyloarthropathies and discusses their radiographic presentation. Typical radiographic features of individual types of juvenile spondyloarthritis are listed (including ankylosing spondylitis, juvenile psoriatic arthritis, reactive arthritis and arthritis in the course of inflammatory bowel diseases. The second part will describe changes visible on ultrasonography and magnetic resonance imaging. In patients with juvenile spondyloarthropathies, these examinations are conducted to diagnose inflammatory lesions in peripheral joints, tendon sheaths, tendons and bursae. Moreover, magnetic resonance imaging also visualizes early inflammatory changes in the axial skeleton and subchondral bone marrow edema, which is considered an early sign of inflammation.

Spatial dynamics of juvenile anchovy in the Bay of Biscay

KAUST Repository

Boyra, Guillermo

2016-07-08

In autumn 2009, the implementation of two successive acoustic surveys targeting juvenile anchovy (Engraulis encrasicolus) in the Bay of Biscay allowed us to monitor the changes in the spatial distribution and aggregation patterns of juveniles of this species during 45 days under fairly stable meteorological conditions. Juvenile anchovy changed its biological condition and behavior in a different manner in two distinct areas. In the Spanish sector, the juveniles migrated 20 nautical miles (n.mi.) towards the coast, but they remained on the shelf and near the surface during the whole surveyed period. As the advance towards the shelf break progressed, their area of distribution decreased, their density increased and the juveniles spread in fewer but heavier shoals. In the French sector, the juveniles also migrated from slope waters towards the coast at a similar velocity, but they crossed the shelf break into the continental shelf, where they increased their mean depth significantly until gradually adopting the typical nyctemeral migrations of adult anchovy. The mean length of the juveniles that adopted the nyctemeral migrations was significantly higher than that of the juveniles remaining at the surface, suggesting that body size is relevant to accomplish this change. Besides, the stronger temperature gradients between the shelf and oceanic waters in the Spanish sector, favored by a narrow shelf, may have acted as a barrier influencing the distinct observed spatial patterns in the two areas. © 2016 John Wiley & Sons Ltd

Spatial dynamics of juvenile anchovy in the Bay of Biscay

KAUST Repository

Boyra, Guillermo; Peñ a, Marian; Cotano, Unai; Irigoien, Xabier; Rubio, Anna; Nogueira, Enrique

2016-01-01

In autumn 2009, the implementation of two successive acoustic surveys targeting juvenile anchovy (Engraulis encrasicolus) in the Bay of Biscay allowed us to monitor the changes in the spatial distribution and aggregation patterns of juveniles of this species during 45 days under fairly stable meteorological conditions. Juvenile anchovy changed its biological condition and behavior in a different manner in two distinct areas. In the Spanish sector, the juveniles migrated 20 nautical miles (n.mi.) towards the coast, but they remained on the shelf and near the surface during the whole surveyed period. As the advance towards the shelf break progressed, their area of distribution decreased, their density increased and the juveniles spread in fewer but heavier shoals. In the French sector, the juveniles also migrated from slope waters towards the coast at a similar velocity, but they crossed the shelf break into the continental shelf, where they increased their mean depth significantly until gradually adopting the typical nyctemeral migrations of adult anchovy. The mean length of the juveniles that adopted the nyctemeral migrations was significantly higher than that of the juveniles remaining at the surface, suggesting that body size is relevant to accomplish this change. Besides, the stronger temperature gradients between the shelf and oceanic waters in the Spanish sector, favored by a narrow shelf, may have acted as a barrier influencing the distinct observed spatial patterns in the two areas. © 2016 John Wiley & Sons Ltd

Using the Juvenile Justice Poster. Teaching Strategy.

Science.gov (United States)

Update on Law-Related Education, 2000

2000-01-01

Presents a lesson that can help students review and summarize what they have learned about the juvenile justice system. Explains that the students discuss how the juvenile justice system can be improved and conduct a survey on how it might be changed in the future. Provides a copy of the survey and directions. (CMK)

Reformations in Zimbabwe's juvenile justice system | Ruparanganda ...

African Journals Online (AJOL)

Children in conflict with the law are often stigmatized and shunned by society as they are perceived as a threat to society. Historically, Zimbabwe's juvenile justice system has been retributive and focused on punishing the juvenile offender. As a result, it has been criticised from a number of viewpoints, including the need to ...

Juvenile Delinquency and Teenage Pregnancy: A Comparison of Ecological Risk Profiles among Midwestern White and Black Female Juvenile Offenders

Science.gov (United States)

Khurana, Atika; Cooksey, Elizabeth C.; Gavazzi, Stephen M.

2011-01-01

The authors examined ecological risk factors associated with teen pregnancy with a sample of 1,190 court-involved female juvenile offenders between 11 and 18 years of age. Data were obtained from five Midwestern juvenile county courts using a recently developed youth risk assessment instrument called the global risk assessment device (GRAD). In…

83 CHALLENGES AND PROSPECTS OF THE JUVENILE JUSTICE ...

African Journals Online (AJOL)

Fr. Ikenga

Juvenile justice administration in Nigeria is weak and has been given very .... The Nigerian criminal justice system, of which the juvenile justice system is an integral part, ... as instruments of security and justice but as weapons of oppression8.

Bilateral, independent juvenile nasopharyngeal angiofibroma: case report.

Science.gov (United States)

Mørkenborg, M-L; Frendø, M; Stavngaard, T; Von Buchwald, C

2015-10-01

Juvenile nasopharyngeal angiofibroma is a benign, vascular tumour that primarily occurs in adolescent males. Despite its benign nature, aggressive growth patterns can cause potential life-threatening complications. Juvenile nasopharyngeal angiofibroma is normally unilateral, originating from the sphenopalatine artery, but bilateral symptoms can occur if a large tumour extends to the contralateral side of the nasopharynx. This paper presents the first reported case of true bilateral extensive juvenile nasopharyngeal angiofibroma involving clinically challenging pre-surgical planning and surgical strategy. A 21-year-old male presented with increasing bilateral nasal obstruction and discharge. Examination revealed tumours bilaterally and imaging demonstrated non-contiguous tumours. Pre-operative angiography showed strictly ipsilateral vascular supplies requiring bilateral embolisation. Radical removal performed as one-step, computer-assisted functional endoscopic sinus surgery was performed. The follow-up period was uncomplicated. This case illustrates the importance of suspecting bilateral juvenile nasopharyngeal angiofibroma in patients presenting with bilateral symptoms. Our management, including successful pre-operative planning, enabled one-step total removal of both tumours and rapid patient recovery.

Radium rentention and dosimetry in juvenile beagles

International Nuclear Information System (INIS)

Lloyd, R.D.; Jones, C.W.; Bruenger, F.W.; Atherton, D.R.; Mays, C.W.

1983-01-01

Retention of administered 226 Ra was substantially greater in beagles injected as 3-month-old juveniles than as 1.4-year-old adults, but the measured 222 Rn/ 226 Ra ratio in bone was significantly less in juveniles for about the first 600 days after injection. An equation that describes the total-body biological retention R in beagles injected with 226 Ra at 3 months of age at any time t (in days) after injection during the first 6.6 years is R = 0.331e/sup -0.206t/ + 0.245e/sup -0.00374t/ + 0.424e/sup -0.000114t/. The rate constant of the final term in the equation for juveniles is similar to that for young adults, suggesting that this component reflects the net turnover rate in the slowly remodeling component of adult bone. Compared to young adult beagles, animals injected as juveniles had a greater fraction of their retained 226 Ra in parts of the skeleton containing much cortical bone, such as paws, and a smaller fraction in those parts containing much trabecular bone

Race and the fragility of the legal distinction between juveniles and adults.

Directory of Open Access Journals (Sweden)

Aneeta Rattan

Full Text Available Legal precedent establishes juvenile offenders as inherently less culpable than adult offenders and thus protects juveniles from the most severe of punishments. But how fragile might these protections be? In the present study, simply bringing to mind a Black (vs. White juvenile offender led participants to view juveniles in general as significantly more similar to adults in their inherent culpability and to express more support for severe sentencing. Indeed, these differences in participants' perceptions of this foundational legal precedent distinguishing between juveniles and adults accounted for their greater support for severe punishment. These results highlight the fragility of protections for juveniles when race is in play. Furthermore, we suggest that this fragility may have broad implications for how juveniles are seen and treated in the criminal justice system.

Juvenile-onset Sporadic Amyotrophic Lateral Sclerosis with a Frameshift FUS Gene Mutation Presenting Unique Neuroradiological Findings and Cognitive Impairment.

Science.gov (United States)

Hirayanagi, Kimitoshi; Sato, Masayuki; Furuta, Natsumi; Makioka, Kouki; Ikeda, Yoshio

2016-01-01

A 24-year-old Japanese woman developed anterocollis, weakness of the proximal arms, and subsequent cognitive impairment. A neurological examination revealed amyotrophic lateral sclerosis (ALS) without a family history. Systemic muscle atrophy progressed rapidly. Cerebral MRI clearly exhibited high signal intensities along the bilateral pyramidal tracts. An analysis of the FUS gene revealed a heterozygous two-base pair deletion, c.1507-1508delAG (p.G504WfsX515). A subset of juvenile-onset familial/sporadic ALS cases with FUS gene mutations reportedly demonstrates mental retardation or learning difficulty. Our study emphasizes the importance of conducting a FUS gene analysis in juvenile-onset ALS cases, even when no family occurrence is confirmed.

Criminal history and future offending of juveniles convicted of the possession of child pornography.

Science.gov (United States)

Aebi, Marcel; Plattner, Belinda; Ernest, Melanie; Kaszynski, Katie; Bessler, Cornelia

2014-08-01

Most child pornography is distributed online. It is estimated that 3% to 15% of child pornography consumers are juveniles. The present study analyzed a consecutive sample of 54 male juveniles convicted of the possession of child pornography. Demographic characteristics, criminal history, and subsequent offending were assessed from criminal files and official reports. Juvenile possessors of child pornography were compared to three different groups of juveniles: Juvenile possessors of other illegal pornography (n = 42), juveniles who committed a sexual contact offense against a child (n = 64), and juveniles who committed a sexual contact offense against a peer or adult (n = 104). Juvenile possessors of child pornography were found to have downloaded the illegal material more frequently and over a longer time period than juvenile possessors of other illegal pornography. Furthermore, juvenile possessors of child pornography differed from juveniles who had committed a sexual contact offense in terms of demographics and showed fewer previous and subsequent offending than juveniles who sexually offended against a peer or adult. We conclude that juvenile possessors of child pornography need a specific target intervention focusing on dysfunctional Internet use and sexually deviant arousal. © The Author(s) 2013.

A novel missense mutation of NDP in a Chinese family with X-linked familial exudative vitreoretinopathy.

Science.gov (United States)

Liu, Hong Yan; Huang, Jia; Wang, Rui Li; Wang, Yue; Guo, Liang Jie; Li, Tao; Wu, Dong; Wang, Hong Dan; Guo, Qian Nan; Dong, Dao Quan

2016-11-01

Familial exudative vitreoretinopathy (FEVR) is a hereditary ocular disorder characterized by a failure of peripheral retinal vascularization. In this report, we describe a novel missense mutation of the Norrie disease gene (NDP) in a Chinese family with X-linked FEVR. Ophthalmologic evaluation was performed on four male patients and seven unaffected individuals after informed consent was obtained. Venous blood was collected from the 11 members of this family, and genomic DNA was extracted using standard methods. The coding exons 2 and 3 and their corresponding exon-intron junctions of NDP were amplified by polymerase chain reaction and then subjected to direct DNA sequencing. A novel missense mutation (c.310A>C) in exon 3, leading to a lysine-to-glutamine substitution at position 104 (p.Lys104Gln), was identified in all four patients with X-linked FEVR. Three unaffected female individuals (III2, IV3, and IV11) were found to be carriers of the mutation. This mutation was not detected in other unaffected individuals. The mutation c.310A>C (p.Lys104Gln) in exon 3 of NDP is associated with FEVR in the studied family. This result further enriches the mutation spectrum of FEVR. Copyright © 2016. Published by Elsevier Taiwan LLC.

A novel missense mutation of NDP in a Chinese family with X-linked familial exudative vitreoretinopathy

Directory of Open Access Journals (Sweden)

Hong Yan Liu

2016-11-01

Full Text Available Familial exudative vitreoretinopathy (FEVR is a hereditary ocular disorder characterized by a failure of peripheral retinal vascularization. In this report, we describe a novel missense mutation of the Norrie disease gene (NDP in a Chinese family with X-linked FEVR. Ophthalmologic evaluation was performed on four male patients and seven unaffected individuals after informed consent was obtained. Venous blood was collected from the 11 members of this family, and genomic DNA was extracted using standard methods. The coding exons 2 and 3 and their corresponding exon–intron junctions of NDP were amplified by polymerase chain reaction and then subjected to direct DNA sequencing. A novel missense mutation (c.310A>C in exon 3, leading to a lysine-to-glutamine substitution at position 104 (p.Lys104Gln, was identified in all four patients with X-linked FEVR. Three unaffected female individuals (III2, IV3, and IV11 were found to be carriers of the mutation. This mutation was not detected in other unaffected individuals. The mutation c.310A>C (p.Lys104Gln in exon 3 of NDP is associated with FEVR in the studied family. This result further enriches the mutation spectrum of FEVR.

Growth of juvenile shrimp Metapenaeus monoceros fed with squid and mussel

Digital Repository Service at National Institute of Oceanography (India)

Achuthankutty, C.T.; Nair, S.R.S.; Krishnakumari, L.

Small juveniles of both sexes and females of large juveniles of Metapenaeus monoceros attained faster growth with squid diet. Males of large juveniles registered better growth with mussel diet. No significant difference was observed in moult weights...

Juvenile technologies in foreign publications

Directory of Open Access Journals (Sweden)

Shpagina E.M.

2012-09-01

Full Text Available The article provides the review of foreign publications, concerning the juvenile technologies used in France, Canada, Germany and Switzerland. The paper presents legal, social and psychotherapeutic aspects of juvenile judiciary in foreign countries. The authors paid special attention to the complexity of approaches to young children and teenagers who found themselves in complicated life circumstances or got into trouble with the law. The article gives examples of using the following techniques: cognitive-behavioral intervention, mediation, family therapy (including family background and family history, relations theory, narrative practices, utilization of «emotional intelligence» resources.

Corporal and capital punishment of juveniles.

Science.gov (United States)

Frazier, H C

1990-01-01

There is a previously unobserved connection between corporal punishment of public school children and capital punishment of juveniles. Both are barometers of acceptable levels of violent punishment and their elimination is a hallmark of a maturing and decent society. Within a majority of the eighteen states where school authorities most frequently strike children are housed 25 of the nation's 28 juvenile death row inmates. On average, the homicide rates of these jurisdictions are two and a half times greater than those that have abolished both state-sanctioned corporal and capital punishment or limit death sentences to those age eighteen and older at the time of their crime(s). Most of the eighteen state abolitions of corporal punishment occurred in the 1980's. The US Supreme Court has ruled both corporal and capital punishment of juveniles constitutional. Additional state legislative abolition of both is anticipated in the 1990s.

Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness

DEFF Research Database (Denmark)

Davidson, Alice E; Cheong, Sek-Shir; Hysi, Pirro G

2014-01-01

We describe novel CHRDL1 mutations in ten families with X-linked megalocornea (MGC1). Our mutation-positive cohort enabled us to establish ultrasonography as a reliable clinical diagnostic tool to distinguish between MGC1 and primary congenital glaucoma (PCG). Megalocornea is also a feature of Ne...

X-Linked Dyskeratosis Congenita Is Predominantly Caused by Missense Mutations in the DKC1 Gene

OpenAIRE

Knight, S.W.; Heiss, N.S.; Vulliamy, T.J.; Greschner, S.; Stavrides, G.; Pai, G.S.; Lestringant, G.; Varma, N.; Mason, P.J.; Dokal, I.; Poustka, A.

1999-01-01

Dyskeratosis congenita is a rare inherited bone marrow-failure syndrome characterized by abnormal skin pigmentation, nail dystrophy, and mucosal leukoplakia. More than 80% of patients develop bone-marrow failure, and this is the major cause of premature death. The X-linked form of the disease (MIM 305000) has been shown to be caused by mutations in the DKC1 gene. The gene encodes a 514-amino-acid protein, dyskerin, that is homologous to Saccharomyces cerevisiae Cbf5p and rat Nap57 proteins. B...

Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1

Science.gov (United States)

Jensen, Lars R; Chen, Wei; Moser, Bettina; Lipkowitz, Bettina; Schroeder, Christopher; Musante, Luciana; Tzschach, Andreas; Kalscheuer, Vera M; Meloni, Ilaria; Raynaud, Martine; van Esch, Hilde; Chelly, Jamel; de Brouwer, Arjan P M; Hackett, Anna; van der Haar, Sigrun; Henn, Wolfram; Gecz, Jozef; Riess, Olaf; Bonin, Michael; Reinhardt, Richard; Ropers, Hans-Hilger; Kuss, Andreas W

2011-01-01

X-linked intellectual disability (XLID), also known as X-linked mental retardation, is a highly genetically heterogeneous condition for which mutations in >90 different genes have been identified. In this study, we used a custom-made sequencing array based on the Affymetrix 50k platform for mutation screening in 17 known XLID genes in patients from 135 families and found eight single-nucleotide changes that were absent in controls. For four mutations affecting ATRX (p.1761M>T), PQBP1 (p.155R>X) and SLC6A8 (p.390P>L and p.477S>L), we provide evidence for a functional involvement of these changes in the aetiology of intellectual disability. PMID:21267006

28 CFR 0.94 - Office of Juvenile Justice and Delinquency Prevention.

Science.gov (United States)

2010-07-01

... Delinquency Prevention. 0.94 Section 0.94 Judicial Administration DEPARTMENT OF JUSTICE ORGANIZATION OF THE... Delinquency Prevention. The Office of Juvenile Justice and Delinquency Prevention is headed by an...., relating to juvenile delinquency, the improvement of juvenile justice systems and missing children. ...

A novel mutation in the nerve-specific 5'UTR of the GJB1 gene causes X-linked Charcot-Marie-Tooth disease.

LENUS (Irish Health Repository)

Murphy, Sinéad M

2011-03-01

X-linked Charcot-Marie-Tooth disease (CMT1X) is the second most common cause of CMT, and is usually caused by mutations in the gap junction protein beta 1 (GJB1) gene which codes for connexin 32 (CX32). CX32 has three tissue-specific promoters, P1 which is specific for liver and pancreas, P1a specific for liver, oocytes and embryonic stem cells, and P2 which is nerve-specific. Over 300 mutations have been described in GJB1, spread throughout the coding region. We describe two families with X-linked inheritance and a phenotype consistent with CMT1X who did not have mutations in the GJB1 coding region. The non-coding region of GJB1 was sequenced and an upstream exon-splicing variant found at approximately - 373G>A which segregated with the disease in both families and was not present in controls. This substitution is located at the last base of the nerve-specific 5\\'UTR and thus may disrupt splicing of the nerve-specific transcript. Online consensus splice-site programs predict a reduced score for the mutant sequence vs. the normal sequence. It is likely that other mutations within the GJB1 non-coding regions account for the CMT1X families who do not have coding region mutations.

Fluorine-18-fluorodeoxyglucose positron emission tomography (PET) brain imaging patterns in patients with suspected X-linked dystonia parkinsonism (study in progress)

International Nuclear Information System (INIS)

Santiago, J.F.Y.; Fugoso, L.; Evidente, V.G.H.

2004-01-01

Objective: X-linked dystonia-parkinsonism (XDP or Lubag) is an adult-onset dystonia syndrome that afflicts mostly Filipino men from the island of Panay, Philippines.It starts focally and becomes generalized or multifocal after the first five years. Parkinsonism is commonly encountered as the initial symptom before the onset of dystonia. Patients may manifest a wide spectrum of movement disorders, including myoclonus, chorea, akathisia, ballism and myorhythmia. Diagnosis is based on the clinical presentation, and the establishment of an x-linked recessive pattern of inheritance and maternal roots from the Panay Islands. Neuroimaging in advanced cases have demonstrated caudate and putaminal atrophy. Previous studies using PET have shown selective reduction in normalized striatal glucose metabolism. The purpose of this study is to describe the FDG distribution using PET imaging in Filipino patients with suspected or confirmed Lubag in various stages of their disease in order to determine if FDG-PET can be used in the initial diagnosis and staging of the disease. Methods and results: All patients presenting to the Movement Disorders Center of St. Lukes Medical Center with dystonia and Parkinsonism symptoms with X-linked recessive inheritance pattern and maternal roots traceable to the Panay Islands were sent for a Brain FDG PET Scan. Seven male patients with various movement disorders (dysarthria, face dystonia, Parkinsonism, hemibalismus, involuntary movements and rest tremors) with duration of symptoms from 1 to 5 years underwent a PET scan. All patients had non visualized bilateral putamen, four had hypometabolic caudate nuclei, one had intense (hypermetabolic) caudate nuclei. CT scan and MRI did not show any findings which may explain the movement disorder symptoms. More patients are being collected and gene typing is planned for some patients. Conclusions: This small series of patients demonstrate that patients with the phenotypic characteristics of X-linked

Parental Low Self-Control, Family Environments, and Juvenile Delinquency.

Science.gov (United States)

Meldrum, Ryan C; Connolly, George M; Flexon, Jamie; Guerette, Rob T

2016-10-01

Research consistently finds that low self-control is significantly correlated with delinquency. Only recently, however, have researchers started to examine associations between parental low self-control, family environments, and child antisocial behavior. Adding to this emerging area of research, the current study examines associations between parental low self-control, aspects of the family environment, and officially recoded juvenile delinquency among a sample (N = 101) of juveniles processed through a juvenile justice assessment facility located in the Southeastern United States. Furthermore, it considers whether aspects of family environments, particularly family cohesion, family conflict, and parental efficacy, mediate the influence of parental low self-control on delinquency. The results of a series of analyses indicate that parental low self-control is correlated with various aspects of family environments and juvenile delinquency, and that the association between parental low self-control and juvenile delinquency is mediated by family environments. Supplementary analyses also suggest that the association between parental low self-control and the family environment may be reciprocal. © The Author(s) 2015.

Temperament of juvenile delinquents with history of substance abuse.

Science.gov (United States)

Chang, Hsueh-Ling; Chen, Sue-Huei; Huang, Chien

2007-01-01

The etiological factors and interrelations of juvenile delinquents, with psychiatric morbidity and substance abuse have been continuously debated. Cloninger's Tridimensional Theory of Temperament has been reported to predict patterns of substance abuse and comorbidity. In the current study, we aimed to examine the usability of the theory in predicting juvenile delinquency and substance abuse. Sixty consecutive and newly incarcerated male delinquents with history of substance abuse were recruited from a juvenile correctional facility in northwestern Taiwan from January 2002 through December 2003. All subjects were assessed of their temperament, behavioral problems, and psychiatric disorders on an individual base. The juvenile delinquent subjects with childhood history of attention deficit and hyperactivity disorder (ADHD) were significantly younger, consumed less betel nuts, and had more siblings with history of drug abuse. Consistent with the results of Cloninger's studies, novelty seeking positively correlated to the amount of substance abuse, while harm avoidance inversely correlated in juvenile delinquents. Endemic trend of choice of substance abuse needs to be taken into consideration in future research projects.

Drugs + HIV, Learn the Link

Medline Plus

Full Text Available ... at: http://www.drugabuse.gov/news-events/public-education-projects/learn-link-drugs-hiv . 120x90 460x80 486x60 Social Media Send the message to young people and to parents, teachers, and the media ...

Prevention and Firesetting: Juvenile Justice and Intervention Strategies.

Science.gov (United States)

Slavkin, Michael L.

2003-01-01

Examines the literature on preventing firesetting behavior in preadolescents and adolescents, suggesting the need for policies and programs designed to help juveniles by providing community support and stability. Alternatives to juvenile justice interventions include making changes in the home environment, acquiring a greater sense of self, and…

Dental and facial characteristics of patients with juvenile idiopathic arthritis Características dentárias e faciais de pacientes com artrite idiopática juvenil

Directory of Open Access Journals (Sweden)

Cynthia Savioli

2004-01-01

Full Text Available OBJECTIVE: It has been shown that the temporomandibular joint is frequently affected by juvenile idiopathic arthritis, and this degenerative disease, which may occur during facial growth, results in severe mandibular dysfunction. However, there are no studies that correlate oral health (tooth decay and gingival diseases and temporomandibular joint dysfunction in patients with juvenile idiopathic arthritis. The aim of this study is to evaluate the oral and facial characteristics of the patients with juvenile idiopathic arthritis treated in a large teaching hospital. METHOD: Thirty-six patients with juvenile idiopathic arthritis (26 female and 10 male underwent a systematic clinical evaluation of their dental, oral, and facial structures (DMFT index, plaque and gingival bleeding index, dental relationship, facial profile, and Helkimo's index. The control group was composed of 13 healthy children. RESULTS: The mean age of the patients with juvenile idiopathic arthritis was 10.8 years; convex facial profile was present in 12 juvenile idiopathic arthritis patients, and class II molar relation was present in 12 (P = .032. The indexes of plaque and gingival bleeding were significant in juvenile idiopathic arthritis patients with a higher number of superior limbs joints involved (P = .055. Anterior open bite (5 and temporomandibular joint noise (8 were present in the juvenile idiopathic arthritis group. Of the group in this sample, 94% (P = .017 had temporomandibular joint dysfunction, 80% had decreased mandibular opening (P = 0.0002, and mandibular mobility was severely impaired in 33% (P = .015. CONCLUSION: This study confirms that patients with juvenile idiopathic arthritis a have a high incidence of mandibular dysfunction that can be attributed to the direct effect of the disease in the temporomandibular joint and b have a higher incidence of gingival disease that can be considered a secondary effect of juvenile idiopathic arthritis on oral health

Somatic and germline mosaicism for a mutation of the PHEX gene can lead to genetic transmission of X-linked hypophosphatemic rickets that mimics an autosomal dominant trait.

Science.gov (United States)

Goji, Katsumi; Ozaki, Kayo; Sadewa, Ahmad H; Nishio, Hisahide; Matsuo, Masafumi

2006-02-01

Familial hypophosphatemic rickets is usually transmitted as an X-linked dominant disorder (XLH), although autosomal dominant forms have also been observed. Genetic studies of these disorders have identified mutations in PHEX and FGF23 as the causes of X-linked dominant disorder and autosomal dominant forms, respectively. The objective of the study was to describe the molecular genetic findings in a family affected by hypophosphatemic rickets with presumed autosomal dominant inheritance. We studied a family in which the father and the elder of his two daughters, but not the second daughter, were affected by hypophosphatemic rickets. The pedigree interpretation of the family suggested that genetic transmission of the disorder occurred as an autosomal dominant trait. Direct nucleotide sequencing of FGF23 and PHEX revealed that the elder daughter was heterozygous for an R567X mutation in PHEX, rather than FGF23, suggesting that the genetic transmission occurred as an X-linked dominant trait. Unexpectedly, the father was heterozygous for this mutation. Single-nucleotide primer extension and denaturing HPLC analysis of the father using DNA from single hair roots revealed that he was a somatic mosaic for the mutation. Haplotype analysis confirmed that the father transmitted the genotypes for 18 markers on the X chromosome equally to his two daughters. The fact that the father transmitted the mutation to only one of his two daughters indicated that he was a germline mosaic for the mutation. Somatic and germline mosaicism for an X-linked dominant mutation in PHEX may mimic autosomal dominant inheritance.

Neurofibromatosis Type 1 Diagnosed in a Child Based on Multiple Juvenile Xanthogranulomas and Juvenile Myelomonocytic Leukemia

DEFF Research Database (Denmark)

Jans, Sune R R; Schomerus, Eckhard; Bygum, Anette

2015-01-01

An association between juvenile xanthogranuloma (JXG), neurofibromatosis type 1 (NF1), and juvenile myelomonocytic leukemia (JMML) has been described in the literature but has only been documented in approximately 20 cases. We diagnosed a patient with NF1 at 25 months of age, before any cutaneous...... with chemotherapy and allogenic bone marrow transplantation. With increased awareness, patients with JXG and NF1 who develop symptoms possibly related to JMML, such as paleness, skin bleeding, cough, unexplained fever, and hepatosplenomegaly, should be further evaluated. We also emphasize that multiple JXG lesions...

Combination of secretin and fluvastatin ameliorates the polyuria associated with X-linked nephrogenic diabetes insipidus in mice.

Science.gov (United States)

Procino, Giuseppe; Milano, Serena; Carmosino, Monica; Barbieri, Claudia; Nicoletti, Maria C; Li, Jian H; Wess, Jürgen; Svelto, Maria

2014-07-01

X-linked nephrogenic diabetes insipidus (X-NDI) is a disease caused by inactivating mutations of the vasopressin (AVP) type 2 receptor (V2R) gene. Loss of V2R function prevents plasma membrane expression of the AQP2 water channel in the kidney collecting duct cells and impairs the kidney concentration ability. In an attempt to develop strategies to bypass V2R signaling in X-NDI, we evaluated the effects of secretin and fluvastatin, either alone or in combination, on kidney function in a mouse model of X-NDI. The secretin receptor was found to be functionally expressed in the kidney collecting duct cells. Based on this, X-NDI mice were infused with secretin for 14 days but urinary parameters were not altered by the infusion. Interestingly, secretin significantly increased AQP2 levels in the collecting duct but the protein primarily accumulated in the cytosol. Since we previously reported that fluvastatin treatment increased AQP2 plasma membrane expression in wild-type mice, secretin-infused X-NDI mice received a single injection of fluvastatin. Interestingly, urine production by X-NDI mice treated with secretin plus fluvastatin was reduced by nearly 90% and the urine osmolality was doubled. Immunostaining showed that secretin increased intracellular stores of AQP2 and the addition of fluvastatin promoted AQP2 trafficking to the plasma membrane. Taken together, these findings open new perspectives for the pharmacological treatment of X-NDI.

Uveíte na artrite idiopática juvenil Uveitis in juvenile idiopathic arthritis

Directory of Open Access Journals (Sweden)

Adriana M. Roberto

2002-02-01

Full Text Available Objetivo: avaliar a freqüência de uveíte anterior crônica em pacientes com artrite idiopática juvenil (AIJ e sua associação com a presença do fator antinúcleo (FAN. Casuística e métodos: foram avaliadas, retrospectivamente, 72 crianças com diagnóstico confirmado de AIJ, que tiveram avaliação oftalmológica através da biomicroscopia para exame da câmara anterior da úvea, determinação do FAN (imunofluorescência indireta e fator reumatóide (FR (prova do látex no período inicial da doença. Para os pacientes com FAN positivo, esta avaliação foi realizada a cada três meses, e, caso contrário, a cada seis meses.Resultados: dos 72 pacientes com AIJ, 40 (55,5% crianças eram do sexo masculino e 36 (50% caucasóides. A idade média de início da AIJ foi 6,4 anos (1 a 14 anos, e a idade média na época do estudo foi de 10,4 anos (1 a 19 anos. De acordo com o tipo de início da AIJ, em 32 (44,4% crianças era pauciarticular (17 meninos e 15 meninas, em 30 (41,6% era poliarticular (17 meninos e 13 meninas, e em 10 (14% era sistêmico (6 meninos e 4 meninas. A presença de uveíte anterior crônica foi detectada em cinco (6,5% crianças com idade média de 11,4 anos. Destas, quatro (80% eram do tipo de início pauciarticular (três meninas do tipo I, com FAN positivo, e um menino do tipo I, FAN negativo, e uma menina com doença poliarticular (FAN e FR negativos. Neste grupo, a idade de início da AIJ foi em média 5,1 anos (3 a 12 anos, e a idade de início da uveíte foi em média de 9 anos (4 a 16 anos. O FAN foi positivo em 3/5 pacientes (60% com uveíte. Dentre os pacientes com AIJ e sem uveíte (67 crianças, oito (12% apresentaram FAN positivo. Quanto à evolução dos pacientes com comprometimento ocular, três crianças tiveram apenas um episódio de uveíte, e duas crianças apresentaram quatro recorrências da uveíte com catarata sem atividade articular associada. A presença do FAN foi estatisticamente mais freq

Juvenile Rockfish Recruitment Cruise

Data.gov (United States)

National Oceanic and Atmospheric Administration, Department of Commerce — In 1983, the groundfish analysis project began a series of yearly cruises designed to assess the annual abundance of juvenile rockfish along the central California...

Psychotic Symptomatology in a Juvenile Court Clinic Population

Science.gov (United States)

Lewis, Dorothy Otnow; And Others

1973-01-01

This report indicating an unexpectedly high incidence of psychotic symptomatology in a population of cases referred to the Juvenile Court Psychiatric Clinic of the Second District of Connecticut, manifests the necessity for juvenile court systems to be made aware of the possibility of psychosis in our delinquent populations. (CS)

Drugs + HIV, Learn the Link

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Full Text Available ... HIV to their babies during pregnancy, delivery, and breastfeeding. HIV destroys a certain kind of white blood ... at: http://www.drugabuse.gov/news-events/public-education-projects/learn-link-drugs-hiv . 120x90 460x80 486x60 ...

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Full Text Available ... and what to do to counter these trends. Online Resources NIDA for Teens Web site : This Web ... at: http://www.drugabuse.gov/news-events/public-education-projects/learn-link-drugs-hiv . 120x90 460x80 486x60 ...

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Full Text Available ... Adolescent Brain Comorbidity College-Age & Young Adults Criminal Justice Drugged Driving Drug Testing Drugs and the Brain ... projects/learn-link-drugs-hiv . 120x90 460x80 486x60 Social Media Send the message to young people and ...

Renal involvement in the immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) disorder.

Science.gov (United States)

Sheikine, Yuri; Woda, Craig B; Lee, Pui Y; Chatila, Talal A; Keles, Sevgi; Charbonnier, Louis-Marie; Schmidt, Birgitta; Rosen, Seymour; Rodig, Nancy M

2015-07-01

Immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) disorder is an autoimmune disease caused by loss-of-function mutations in the gene encoding the forkhead box P3 (FOXP3) transcription factor. These mutations affect the normal function of circulating regulatory T cells. IPEX is characterized by profound immune dysregulation leading to dermatitis, enteropathy, multiple endocrinopathies and failure to thrive. Different forms of renal injury have also been noted in these patients but these have been described to a very limited extent. Three patients with IPEX with characteristic renal findings and mutations in FOXP3, including one novel mutation, are described. Case presentations are followed by a review of the renal manifestations noted in IPEX and the range of therapeutic options for this disorder. We recommend that IPEX be considered in the differential diagnosis of young children who present with signs of immune dysregulation with a concomitant renal biopsy demonstrating immune complex deposition in a membranous-like pattern and/or interstitial nephritis.

X linked neonatal centronuclear/myotubular myopathy: evidence for linkage to Xq28 DNA marker loci.

OpenAIRE

Thomas, N S; Williams, H; Cole, G; Roberts, K; Clarke, A; Liechti-Gallati, S; Braga, S; Gerber, A; Meier, C; Moser, H

1990-01-01

We have studied the inheritance of several polymorphic Xq27/28 DNA marker loci in two three generation families with the X linked neonatal lethal form of centronuclear/myotubular myopathy (XL MTM). We found complete linkage of XLMTM to all four informative Xq28 markers analysed, with GCP/RCP (Z = 3.876, theta = 0.00), with DXS15 (Z = 3.737, theta = 0.00), with DXS52 (Z = 2.709, theta = 0.00), and with F8C (Z = 1.020, theta = 0.00). In the absence of any observable recombination, we are unable...

The impacts of neutralized acid mine drainage contaminated water on the expression of selected endocrine-linked genes in juvenile Mozambique tilapia Oreochromis mossambicus exposed in vivo.

Science.gov (United States)

Truter, Johannes Christoff; va Wyk, Johannes Hendrik; Oberholster, Paul Johan; Botha, Anna-Maria

2014-02-01

Acid mine drainage (AMD) is a global environmental concern due to detrimental impacts on river ecosystems. Little is however known regarding the biological impacts of neutralized AMD on aquatic vertebrates despite excessive discharge into watercourses. The aim of this investigation was to evaluate the endocrine modulatory potential of neutralized AMD, using molecular biomarkers in the teleost fish Oreochromis mossambicus in exposure studies. Surface water was collected from six locations downstream of a high density sludge (HDS) AMD treatment plant and a reference site unimpacted by AMD. The concentrations of 28 elements, including 22 metals, were quantified in the exposure water in order to identify potential links to altered gene expression. Relatively high concentrations of manganese (~ 10mg/l), nickel (~ 0.1mg/l) and cobalt (~ 0.03 mg/l) were detected downstream of the HDS plant. The expression of thyroid receptor-α (trα), trβ, androgen receptor-1 (ar1), ar2, glucocorticoid receptor-1 (gr1), gr2, mineralocorticoid receptor (mr) and aromatase (cyp19a1b) was quantified in juvenile fish after 48 h exposure. Slight but significant changes were observed in the expression of gr1 and mr in fish exposed to water collected directly downstream of the HDS plant, consisting of approximately 95 percent neutralized AMD. The most pronounced alterations in gene expression (i.e. trα, trβ, gr1, gr2, ar1 and mr) was associated with water collected further downstream at a location with no other apparent contamination vectors apart from the neutralized AMD. The altered gene expression associated with the "downstream" locality coincided with higher concentrations of certain metals relative to the locality adjacent to the HDS plant which may indicate a causative link. The current study provides evidence of endocrine disruptive activity associated with neutralized AMD contamination in regard to alterations in the expression of key genes linked to the thyroid, interrenal and

Effects of Prior Experience on Shelter-Seeking Behavior of Juvenile American Lobsters.

Science.gov (United States)

Bayer, Skylar R; Bianchi, Katherine M; Atema, Jelle; Jacobs, Molly W

2017-04-01

Shelter-seeking behaviors are vital for survival for a range of juvenile benthic organisms. These behaviors may be innate or they may be affected by prior experience. After hatching, American lobsters Homarus americanus likely first come into contact with shelter during the late postlarval (decapodid) stage, known as stage IV. After the subsequent molt to the first juvenile stage (stage V), they are entirely benthic and are thought to be highly cryptic. We hypothesized that postlarval (stage IV) experience with shelter would carry over into the first juvenile stage (stage V) and reduce the time needed for juveniles to locate and enter shelters (sheltering). We found some evidence of a carryover effect, but not the one we predicted: stage V juveniles with postlarval shelter experience took significantly longer to initiate sheltering. We also hypothesized that stage V juveniles would demonstrate learning by relocating shelters more quickly with immediate prior experience. Our findings were mixed. In a maze, juveniles with immediate prior experience were faster to regain visual contact with shelter, suggesting that they had learned the location of the shelter. In contrast, there was no significant effect of immediate prior experience on time to initiate sheltering in an open arena, or in the maze after juveniles had regained visual contact. We conclude that very young (stage V) juvenile lobsters modify their shelter-seeking behavior based on prior experiences across several timescales. Ecologically relevant variation in habitat exposure among postlarval and early juvenile lobsters may influence successful recruitment in this culturally and commercially important fishery species.

The Education of Juveniles in Detention: Policy Considerations and Infrastructure Development

Science.gov (United States)

Geib, Catherine Foley; Chapman, John F.; D'Amaddio, Amy H.; Grigorenko, Elena L.

2011-01-01

This article presents a discussion of the state of affairs pertaining to educating juvenile justice-involved youth. It summarizes general observations regarding the schooling of juveniles in pre-trial and post-trial incarceration settings, as well as, juveniles on probation or in community settings. The article selectively presents relevant…

Juvenile myelomonocytic leukemia presenting as bilateral breast masses

Energy Technology Data Exchange (ETDEWEB)

Edison, Michele N.; Letter, Haley P. [Florida Hospital, Department of Radiology, Orlando, FL (United States); University of Central Florida, College of Medicine, Orlando, FL (United States); O' Dell, M.C. [University of Central Florida, College of Medicine, Orlando, FL (United States); Children' s Hospital of Philadelphia, Pediatric Radiology, Philadelphia, PA (United States); Scherer, Kurt; Williams, Jennifer L. [Florida Hospital, Department of Radiology, Orlando, FL (United States); University of Central Florida, College of Medicine, Orlando, FL (United States); Florida State University, College of Medicine, Tallahassee, FL (United States)

2017-01-15

An 8-year-old girl presented with bilateral breast masses and was subsequently diagnosed with juvenile myelomonocytic leukemia. Juvenile myelomonocytic leukemia is a rare myelodysplastic syndrome that typically presents in boys younger than 3 years of age with splenomegaly, lymphadenopathy and skin findings. Bilateral breast masses in a child are rare and, as such, present a diagnostic dilemma due to the relative paucity of cases in the literature. We present a case of granulocytic sarcoma of the breasts in a patient with juvenile myelomonocytic leukemia. The authors hope that increased reporting and research regarding pediatric breast masses will help create awareness for such cases. (orig.)

Clinical research of juvenile hyperthyroidism treatment with radioiodine

International Nuclear Information System (INIS)

Qiu Ling; Zhang Chunying; Chen Yue

2001-01-01

Objective: To evaluate the effects and side effects in the radioiodine management of juvenile hyperthyroidism. Methods: 80 patients with poor effects using anti-thyroid drug were assigned to receive 131 I therapy. The follows of therapy outcome were assessed 1, 3, 6 and 12 months after the start of treatment. One follows up per 1-3 years. Results: Among 80 patients followed by 6 months, clinical response was excellent in 65 patients (81%), good in 15 (19%). There were 12 patients with hypothyroidism followed 4 years, and with no other side effects. Conclusion: The good therapeutic effect was obtained in radioiodine treatment for juvenile hyperthyroidism. Radioiodine was effective to juvenile hyperthyroidism

Juvenile myelomonocytic leukemia presenting as bilateral breast masses

International Nuclear Information System (INIS)

Edison, Michele N.; Letter, Haley P.; O'Dell, M.C.; Scherer, Kurt; Williams, Jennifer L.

2017-01-01

An 8-year-old girl presented with bilateral breast masses and was subsequently diagnosed with juvenile myelomonocytic leukemia. Juvenile myelomonocytic leukemia is a rare myelodysplastic syndrome that typically presents in boys younger than 3 years of age with splenomegaly, lymphadenopathy and skin findings. Bilateral breast masses in a child are rare and, as such, present a diagnostic dilemma due to the relative paucity of cases in the literature. We present a case of granulocytic sarcoma of the breasts in a patient with juvenile myelomonocytic leukemia. The authors hope that increased reporting and research regarding pediatric breast masses will help create awareness for such cases. (orig.)

A social work study on family related issues influencing juvenile delinquency

Directory of Open Access Journals (Sweden)

Mohammad Reza Iravani

2013-07-01

Full Text Available We present a study to investigate the impacts of various factors on juvenile delinquency. The study distributes 400 questionnaires among young people aged 19-26 who are involved with some sort of crime and analyzes their feedbacks. There are three hypotheses including family income, tendency to spirituality and religion and educational backgrounds of families and juvenile delinquency among these people. The results show that while family income and religious as well as spirituality characteristics play important role on juvenile delinquency, educational background of the parents do not statistically have any influence on juvenile delinquency. The study recommends that a better family condition could contribute society to reduce juvenile delinquency and people could guide their children through better consultations.

Extensive X-linked adaptive evolution in central chimpanzees

DEFF Research Database (Denmark)

Hvilsom, Christina; Qian, Yu; Bataillon, Thomas

2012-01-01

on the dominance of beneficial (adaptive) and deleterious mutations. Here we capture and sequence the complete exomes of 12 chimpanzees and present the largest set of protein-coding polymorphism to date. We report extensive adaptive evolution specifically targeting the X chromosome of chimpanzees with as much...... to humans, we find that purifying selection is stronger on the X chromosome than on the autosomes in chimpanzees. We therefore conclude that most adaptive mutations are recessive. We also document dramatically reduced synonymous diversity in the chimpanzee X chromosome relative to autosomes and stronger...... purifying selection than for the human X chromosome. If similar processes were operating in the human-chimpanzee ancestor as in central chimpanzees today, our results therefore provide an explanation for the much-discussed reduction in the human-chimpanzee divergence at the X chromosome....

The Role of Gene Therapy in the Treatment of Retinal Diseases: A Review.

Science.gov (United States)

Campa, C; Gallenga, C E; Bolletta, E; Perri, P

2017-01-01

Gene therapy represents the therapeutic delivery of nucleic acid polymers into patient cells with the aim of treating an underlying disease. Over the past 2 decades this new therapy has made substantial progress owing to better understanding of the pathobiologic basis of various diseases coupled with growth of gene transfer biotechnologies. The eye, in particular, represents a suitable target for such therapy due to the immune privilege provided by the blood-ocular barrier, the ability to directly visualize, access and locally treat the cells and the minimal amount of vector needed given the size of this organ. It is not surprising therefore that several clinical trials are now ongoing in this field. The purpose of this review was to provide an update on gene therapy for retinal diseases, discussing differences in treatment strategies, vector designs and surgical techniques. Research was performed on PubMed, ClinicalTrials.gov, and Home Genetic Reference. We additionally utilized the internet database for genetics of retinal diseases, the portal for rare diseases and orphan drugs and the NCBI database Online Mendelian Inheritance in Man. No restriction was applied on the language of publications. We present the available results of current active clinical trials for inherited retinal disease such as Leber's congenital amaurosis type 2, choroideremia, Stargardt disease, achromatopsia and juvenile X-linked retinoschisis. We also illustrate a new approach of this therapy for the treatment of much more common ocular diseases such as age-related macular degeneration and diabetic retinopathy. Gene therapy represents an emerging and promising therapeutic approach for the treatment not only of rare inherited retinal diseases but also much more common retinal pathologies. Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.org.

Feelings Associated with Being a Carrier and Characteristics of Reproductive Decision Making in Women Known to Be Carriers of X-linked Conditions.

Science.gov (United States)

Kay, Elizabeth; Kingston, Helen

2002-03-01

Qualitative data were collected from 14 women known to be carriers of an X-linked condition associated with 'serious' disability on feelings about being a carrier and impact on reproductive decisions. Guilt and responsibility were commonly expressed by carriers about issues surrounding pregnancy. Personal experience of the condition influenced their approach to reproductive decisions. Those who had lived with an affected brother were more concrete in their decisions to avoid having an affected child compared to those with less personal experience of the condition. It is concluded that feelings of guilt associated with difficult reproductive decisions are reflected in the strong sense of responsibility attached to being a carrier. Personal experience of the condition has a clear influence on reproductive decisions of X-linked carriers.

Catch rate of juveniles Ethamatosa fimbriata , Sardinella maderensis ...

African Journals Online (AJOL)

We collected data on the quantity of juvenile fish and the daily duration of fishing trips in four landing sites over a two-week period Bernoulli random variables and properties of uniform distribution were used to analyze the data. Catch rates of juveniles Ethamatosa fimbriata, Sardinella maderensis, and Brachydeuterus ...

Extinguishing All Hope: Life-without-Parole for Juveniles

Science.gov (United States)

Butler, Frank

2010-01-01

Sentencing juveniles to life-without-parole (JLWOP) is a practice fraught with ethical dilemmas. Through in-depth interviews with 11 men living sentences of JLWOP, their narratives of their backgrounds and experiences as juveniles were studied. Common themes were identified, and 3 general categories of cases emerged from the narratives. Ethical…

Setting a minimum age for juvenile justice jurisdiction in California.

Science.gov (United States)

S Barnert, Elizabeth; S Abrams, Laura; Maxson, Cheryl; Gase, Lauren; Soung, Patricia; Carroll, Paul; Bath, Eraka

2017-03-13

Purpose Despite the existence of minimum age laws for juvenile justice jurisdiction in 18 US states, California has no explicit law that protects children (i.e. youth less than 12 years old) from being processed in the juvenile justice system. In the absence of a minimum age law, California lags behind other states and international practice and standards. The paper aims to discuss these issues. Design/methodology/approach In this policy brief, academics across the University of California campuses examine current evidence, theory, and policy related to the minimum age of juvenile justice jurisdiction. Findings Existing evidence suggests that children lack the cognitive maturity to comprehend or benefit from formal juvenile justice processing, and diverting children from the system altogether is likely to be more beneficial for the child and for public safety. Research limitations/implications Based on current evidence and theory, the authors argue that minimum age legislation that protects children from contact with the juvenile justice system and treats them as children in need of services and support, rather than as delinquents or criminals, is an important policy goal for California and for other national and international jurisdictions lacking a minimum age law. Originality/value California has no law specifying a minimum age for juvenile justice jurisdiction, meaning that young children of any age can be processed in the juvenile justice system. This policy brief provides a rationale for a minimum age law in California and other states and jurisdictions without one.

A Phex Mutation in a Murine Model of X-linked Hypophosphatemia Alters Phosphate Responsiveness of Bone Cells

OpenAIRE

Ichikawa, Shoji; Austin, Anthony M.; Gray, Amie K.; Econs, Michael J.

2012-01-01

Mutations in the PHEX gene cause X-linked hypophosphatemia (XLH). Hypophosphatemia in XLH results from increased circulating levels of a phosphaturic hormone, fibroblast growth factor 23 (FGF23), which inhibits renal phosphate reabsorption and 1,25-dihydroxyvitamin D (calcitriol) synthesis. The current standard therapy for XLH – high dose phosphate and calcitriol – further increases FGF23 concentrations, suggesting that patients with XLH may have an altered response to extracellular phosphate...

Drugs + HIV, Learn the Link

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Clear-cutting affects habitat connectivity for a forest amphibian by decreasing permeability to juvenile movements.

Science.gov (United States)

Popescu, Viorel D; Hunter, Malcolm L

2011-06-01

Conservation of forest amphibians is dependent on finding the right balance between management for timber production and meeting species' habitat requirements. For many pond-breeding amphibians, successful dispersal of the juvenile stage is essential for long-term population persistence. We investigated the influence of timber-harvesting practices on the movements of juvenile wood frogs (Lithobates sylvaticus). We used a chronosequence of stands produced by clear-cutting to evaluate how stand age affects habitat permeability to movements. We conducted experimental releases of juveniles in 2008 (n = 350) and 2009 (n = 528) in unidirectional runways in four treatments: mature forest, recent clearcut, 11-year-old, and 20-year-old regeneration. The runways were 50 x 2.5-m enclosures extending into each treatment, perpendicular to a distinct edge, with four tracking stations at 10, 20, 30, and 40 m from the edge. We recorded the number of animals reaching each tracking station, and the proportion of animals changing their direction of movement at each distance. We found that the mature forest was 3.1 and 3.7 times more permeable than the 11-year-old regeneration and the recent clearcut, respectively. Animals actively avoided open-canopy habitats and sharp edges; significantly more animals returned toward the closed-canopy forest at 0 m and 10 m in the less permeable treatments. There were no significant differences in habitat permeability between the mature forest and the 20-year-old regeneration. Our study is the first to directly assess habitat permeability to juvenile amphibian movement in relation to various forestry practices. We argue that habitat permeability at this scale is largely driven by the behavior of animals in relation to habitat disturbance and that caution needs to be used when using spatial modeling and expert-derived permeability values to assess connectivity of amphibian populations. The effects of clear-cutting on the migratory success of juvenile

The Juvenile Transition: A Developmental Switch Point in Human Life History

Science.gov (United States)

Del Giudice, Marco; Angeleri, Romina; Manera, Valeria

2009-01-01

This paper presents a new perspective on the transition from early to middle childhood (i.e., human juvenility), investigated in an integrative evolutionary framework. Juvenility is a crucial life history stage, when social learning and interaction with peers become central developmental functions; here it is argued that the "juvenile transition"…

Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation

DEFF Research Database (Denmark)

Freude, Kristine; Hoffmann, Kirsten; Jensen, Lars-Riff

2004-01-01

Nonsyndromic X-linked mental retardation (NSXLMR) is a very heterogeneous condition, and most of the underlying gene defects are still unknown. Recently, we have shown that approximately 30% of these genes cluster on the proximal Xp, which prompted us to perform systematic mutation screening...

Sexual dimorphism and plumage characteristics of juvenile Cape ...

African Journals Online (AJOL)

Juveniles, or birds in their first year, were genetically sexed. Standardised photographs were taken of plucked juvenile breast feathers and analysed using Adobe Photoshop. Pixel counts were taken to analyse the streak coverage of a single feather. A scale from 0 to 3 was used to score streak intensity of the entire breast.

Pattern of juvenile periodontitis in Lagos University Teaching ...

African Journals Online (AJOL)

Objective: The aim of the survey was to study the pattern of juvenile periodontitis patients that presented at the Lagos University Teaching Hospital Dental Centre from November 1999 to March 2004. Methods: Through review of case files of patients, twenty six juvenile periodontitis patients, within the age range of 18 and 30 ...

Giant Bilateral Juvenile Fibroadenoma of the Breast in Prepubescent Girl.

Science.gov (United States)

Khan, Salma; Khan, Momna; Rafique, Sadia

2015-10-01

Juvenile fibroadenoma accounts for 4% of the total fibroadenomas. Giant juvenile fibroadenoma is found in only 0.5% of all fibroadenomas. The authors report a 10-year girl presenting with progressive enlargement of both breasts for one year. Based on clinical findings and Fine Needle Aspiration Cytology (FNAC), a diagnosis of bilateral giant juvenile fibroadenomas of breast was made. She underwent bilateral lumpectomy with breast conservation and made uneventful postoperative recovery.

PCBs and DDT in the serum of juvenile California sea lions: associations with vitamins A and E and thyroid hormones

International Nuclear Information System (INIS)

Debier, Cathy; Ylitalo, Gina M.; Weise, Michael; Gulland, Frances; Costa, Daniel P.; Le Boeuf, Burney J.; Tillesse, Tanguy de; Larondelle, Yvan

2005-01-01

Top-trophic predators like California sea lions bioaccumulate high levels of persistent fat-soluble pollutants that may provoke physiological impairments such as endocrine or vitamins A and E disruption. We measured circulating levels of polychlorinated biphenyls (PCBs) and dichlorodiphenyltrichloroethane (DDT) in 12 healthy juvenile California sea lions captured on An-tilde o Nuevo Island, California, in 2002. We investigated the relationship between the contamination by PCBs and DDT and the circulating levels of vitamins A and E and thyroid hormones (thyroxine, T4 and triiodothyronine, T3). Serum concentrations of total PCBs (ΣPCBs) and total DDT were 14 ± 9 mg/kg and 28 ± 19 mg/kg lipid weight, respectively. PCB toxic equivalents (ΣPCB TEQs) were 320 ± 170 ng/kg lipid weight. Concentrations of ΣPCBs and ΣPCB TEQs in serum lipids were negatively correlated (p 0.1). As juvenile California sea lions are useful sentinels of coastal contamination, the high levels encountered in their serum is cause for concern about the ecosystem health of the area. - Results show high levels of organochlorine contaminants in juvenile California sea lions and a link between vitamin A, thyroid hormones and PCB exposure

Reassessing the Anatomic Origin of the Juvenile Nasopharyngeal Angiofibroma.

Science.gov (United States)

McKnight, Colin D; Parmar, Hemant A; Watcharotone, Kuanwong; Mukherji, Suresh K

A modern imaging review is necessary to further define the anatomic origin of the juvenile nasopharyngeal angiofibroma. After institutional review board approval, a search from January 1998 to January 2013 yielded 33 male patients (aged 10-23 years) with pathologically proven juvenile nasopharyngeal angiofibroma lesions, as well as pretreatment computed tomography/magnetic resonance imaging. Juvenile nasopharyngeal angiofibroma involvement was assessed in the following regions: sphenopalatine foramen, pterygopalatine fossa, vidian canal, nasopharynx, nasal cavity, sphenoid sinus, choana, pterygomaxillary fissure/masticator space, orbit, and sphenoid bone. The choana and nasopharynx were involved in all 33 patients. In contrast, only 22 lesions involved the pterygopalatine fossa, 24 lesions involved the sphenopalatine foramen, and 28 lesions involved the vidian canal. Our results suggest that the juvenile nasopharyngeal angiofibroma origin is in the region of the choana and nasopharynx rather than the sphenopalatine foramen or pterygopalatine fossa.

Water velocity influences prey detection and capture by drift-feeding juvenile coho salmon (Oncorhynchus kisutch) and steelhead (Oncorhynchus mykiss irideus)

Science.gov (United States)

John J. Piccolo; Nicholas F. Hughes; Mason D. Bryant

2008-01-01

We examined the effects of water velocity on prey detection and capture by drift-feeding juvenile coho salmon (Oncorhynchus kisutch) and steelhead (sea-run rainbow trout,Oncorhynchus mykiss irideus) in laboratory experiments. We used repeated-measures analysis of variance to test the effects of velocity, species, and the velocity x species interaction on prey capture...

Aggressive tumor growth and clinical evolution in a patient with X-linked acro-gigantism syndrome.

Science.gov (United States)

Naves, Luciana A; Daly, Adrian F; Dias, Luiz Augusto; Yuan, Bo; Zakir, Juliano Coelho Oliveira; Barra, Gustavo Barcellos; Palmeira, Leonor; Villa, Chiara; Trivellin, Giampaolo; Júnior, Armindo Jreige; Neto, Florêncio Figueiredo Cavalcante; Liu, Pengfei; Pellegata, Natalia S; Stratakis, Constantine A; Lupski, James R; Beckers, Albert

2016-02-01

X-linked acro-gigantism (X-LAG) syndrome is a newly described disease caused by microduplications on chromosome Xq26.3 leading to copy number gain of GPR101. We describe the clinical progress of a sporadic male X-LAG syndrome patient with an Xq26.3 microduplication, highlighting the aggressive natural history of pituitary tumor growth in the absence of treatment. The patient first presented elsewhere aged 5 years 8 months with a history of excessive growth for >2 years. His height was 163 cm, his weight was 36 kg, and he had markedly elevated GH and IGF-1. MRI showed a non-invasive sellar mass measuring 32.5 × 23.9 × 29.1 mm. Treatment was declined and the family was lost to follow-up. At the age of 10 years and 7 months, he presented again with headaches, seizures, and visual disturbance. His height had increased to 197 cm. MRI showed an invasive mass measuring 56.2 × 58.1 × 45.0 mm, with compression of optic chiasma, bilateral cavernous sinus invasion, and hydrocephalus. His thyrotrope, corticotrope, and gonadotrope axes were deficient. Surgery, somatostatin analogs, and cabergoline did not control vertical growth and pegvisomant was added, although vertical growth continues (currently 207 cm at 11 years 7 months of age). X-LAG syndrome is a new genomic disorder in which early-onset pituitary tumorigenesis can lead to marked overgrowth and gigantism. This case illustrates the aggressive nature of tumor evolution and the challenging clinical management in X-LAG syndrome.

Drugs + HIV, Learn the Link

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Full Text Available ... projects/learn-link-drugs-hiv . 120x90 460x80 486x60 Social Media Send the message to young people and ... gov/1kSfBiz ​ Mention your friends, colleagues, or other organizations in your tweets to spread the word even ...

Crocodylus acutus (American Crocodile). Long distance juvenile movement

Science.gov (United States)

Crespo, Rafael; Beauchamp, Jeffrey S.; Mazzotti, Frank; Cherkiss, Michael S.

2015-01-01

Crocodylus acutus (American Crocodile) is the most widely distributed New World crocodilian species with its range extending from Peru in the south to the southern tip of peninsular Florida in the north. Crocodylus acutus occupies primarily coastal brackish water habitat, however it also occurs in freshwater to hypersaline habitats (Thorbjarnarson 2010. In Crocodiles. Status Survey and Conservation Action Plan. [Third Edition], American Crocodile Crocodylus acutus, pp. 46–53 S.C. Manolis and C. Stevenson. Crocodile Specialist Group, Darwin). There is limited literature on long distance movements of juvenile crocodilians worldwide and no literature on juvenile crocodiles in Florida. However, adult C. acutus in Florida have been documented to make seasonal movements of 5–15 km from preferred foraging habitat to nesting beaches (Mazzotti 1983. The Ecology of Crocodylus acutus in Florida. PhD Dissertation. The Pennsylvania State University, University Park, Pennsylvania. 161pp), and one adult was documented making a 35 km trip from her nest site to preferred foraging habitat (Cherkiss et. al. 2006. Herpetol. Rev. 38:72–73). Rodda (1984. Herpetologica 40:444–451) reported on juvenile C. acutus movement in Gatun Lake, Panama, and found that juveniles stayed within 1 km of their nest site for the first month. Movements of juvenile Crocodylus porosus (Saltwater Crocodile) in a river system in Northern Australia showed a maximum movement of 38.9 km from a known nest site, with the majority of the crocodiles staying within 15.6 km downstream to 6.8 km upstream (Webb and Messel 1978. Aust. Wildlife Res. 5:263–283). Juvenile movement of Crocodylus niloticus (Nile Crocodile) in Lake Ngezi, Zimbabwe showed crocodiles restricted their movements from 1.0 km up to 4.5 km through the wet and dry seasons (Hutton 1989. Am. Zool. 29:1033–1049). Long distance movements of alligators were recorded for sizes ranging from 28 cm to 361 cm in a coastal refuge in Louisiana, where

Musculoskeletal MRI findings of juvenile localized scleroderma

Energy Technology Data Exchange (ETDEWEB)

Eutsler, Eric P. [Nemours Children' s Health System/Alfred I. duPont Hospital for Children, Wilmington, DE (United States); Washington University School of Medicine, Mallinckrodt Institute of Radiology, St. Louis, MO (United States); Horton, Daniel B. [Nemours Children' s Health System/Alfred I. duPont Hospital for Children, Division of Rheumatology, Department of Pediatrics, Wilmington, DE (United States); Rutgers Robert Wood Johnson Medical School, Department of Pediatrics, New Brunswick, NJ (United States); Epelman, Monica [Nemours Children' s Health System/Nemours Children' s Hospital, Department of Medical Imaging, Orlando, FL (United States); Finkel, Terri [Nemours Children' s Health System/Nemours Children' s Hospital, Department of Pediatrics, Orlando, FL (United States); Averill, Lauren W. [Nemours Children' s Health System/Alfred I. duPont Hospital for Children, Wilmington, DE (United States)

2017-04-15

Juvenile localized scleroderma comprises a group of autoimmune conditions often characterized clinically by an area of skin hardening. In addition to superficial changes in the skin and subcutaneous tissues, juvenile localized scleroderma may involve the deep soft tissues, bones and joints, possibly resulting in functional impairment and pain in addition to cosmetic changes. There is literature documenting the spectrum of findings for deep involvement of localized scleroderma (fascia, muscles, tendons, bones and joints) in adults, but there is limited literature for the condition in children. We aimed to document the spectrum of musculoskeletal magnetic resonance imaging (MRI) findings of both superficial and deep juvenile localized scleroderma involvement in children and to evaluate the utility of various MRI sequences for detecting those findings. Two radiologists retrospectively evaluated 20 MRI studies of the extremities in 14 children with juvenile localized scleroderma. Each imaging sequence was also given a subjective score of 0 (not useful), 1 (somewhat useful) or 2 (most useful for detecting the findings). Deep tissue involvement was detected in 65% of the imaged extremities. Fascial thickening and enhancement were seen in 50% of imaged extremities. Axial T1, axial T1 fat-suppressed (FS) contrast-enhanced and axial fluid-sensitive sequences were rated most useful. Fascial thickening and enhancement were the most commonly encountered deep tissue findings in extremity MRIs of children with juvenile localized scleroderma. Because abnormalities of the skin, subcutaneous tissues and fascia tend to run longitudinally in an affected limb, axial T1, axial fluid-sensitive and axial T1-FS contrast-enhanced sequences should be included in the imaging protocol. (orig.)

Musculoskeletal MRI findings of juvenile localized scleroderma

International Nuclear Information System (INIS)

Eutsler, Eric P.; Horton, Daniel B.; Epelman, Monica; Finkel, Terri; Averill, Lauren W.

2017-01-01

Juvenile localized scleroderma comprises a group of autoimmune conditions often characterized clinically by an area of skin hardening. In addition to superficial changes in the skin and subcutaneous tissues, juvenile localized scleroderma may involve the deep soft tissues, bones and joints, possibly resulting in functional impairment and pain in addition to cosmetic changes. There is literature documenting the spectrum of findings for deep involvement of localized scleroderma (fascia, muscles, tendons, bones and joints) in adults, but there is limited literature for the condition in children. We aimed to document the spectrum of musculoskeletal magnetic resonance imaging (MRI) findings of both superficial and deep juvenile localized scleroderma involvement in children and to evaluate the utility of various MRI sequences for detecting those findings. Two radiologists retrospectively evaluated 20 MRI studies of the extremities in 14 children with juvenile localized scleroderma. Each imaging sequence was also given a subjective score of 0 (not useful), 1 (somewhat useful) or 2 (most useful for detecting the findings). Deep tissue involvement was detected in 65% of the imaged extremities. Fascial thickening and enhancement were seen in 50% of imaged extremities. Axial T1, axial T1 fat-suppressed (FS) contrast-enhanced and axial fluid-sensitive sequences were rated most useful. Fascial thickening and enhancement were the most commonly encountered deep tissue findings in extremity MRIs of children with juvenile localized scleroderma. Because abnormalities of the skin, subcutaneous tissues and fascia tend to run longitudinally in an affected limb, axial T1, axial fluid-sensitive and axial T1-FS contrast-enhanced sequences should be included in the imaging protocol. (orig.)

Musculoskeletal MRI findings of juvenile localized scleroderma.

Science.gov (United States)

Eutsler, Eric P; Horton, Daniel B; Epelman, Monica; Finkel, Terri; Averill, Lauren W

2017-04-01

Juvenile localized scleroderma comprises a group of autoimmune conditions often characterized clinically by an area of skin hardening. In addition to superficial changes in the skin and subcutaneous tissues, juvenile localized scleroderma may involve the deep soft tissues, bones and joints, possibly resulting in functional impairment and pain in addition to cosmetic changes. There is literature documenting the spectrum of findings for deep involvement of localized scleroderma (fascia, muscles, tendons, bones and joints) in adults, but there is limited literature for the condition in children. We aimed to document the spectrum of musculoskeletal magnetic resonance imaging (MRI) findings of both superficial and deep juvenile localized scleroderma involvement in children and to evaluate the utility of various MRI sequences for detecting those findings. Two radiologists retrospectively evaluated 20 MRI studies of the extremities in 14 children with juvenile localized scleroderma. Each imaging sequence was also given a subjective score of 0 (not useful), 1 (somewhat useful) or 2 (most useful for detecting the findings). Deep tissue involvement was detected in 65% of the imaged extremities. Fascial thickening and enhancement were seen in 50% of imaged extremities. Axial T1, axial T1 fat-suppressed (FS) contrast-enhanced and axial fluid-sensitive sequences were rated most useful. Fascial thickening and enhancement were the most commonly encountered deep tissue findings in extremity MRIs of children with juvenile localized scleroderma. Because abnormalities of the skin, subcutaneous tissues and fascia tend to run longitudinally in an affected limb, axial T1, axial fluid-sensitive and axial T1-FS contrast-enhanced sequences should be included in the imaging protocol.

Gigantism: X-linked acrogigantism and GPR101 mutations.

Science.gov (United States)

Iacovazzo, Donato; Korbonits, Márta

X-linked acrogigantism (XLAG) is a recently identified condition of early-onset GH excess resulting from the germline or somatic duplication of the GPR101 gene on chromosome Xq26.3. Thirty patients have been formally reported so far. The disease affects mostly females, occurs usually sporadically, and is characterised by early onset and marked overgrowth. Most patients present with concomitant hyperprolactinaemia. Histopathology shows pituitary hyperplasia or pituitary adenoma with or without associated hyperplasia. XLAG-related pituitary adenomas present peculiar histopathological features that should contribute to raise the suspicion of this rare condition. Treatment is frequently challenging and multi-modal. While females present with germline mutations, the sporadic male patients reported so far were somatic mosaics with variable levels of mosaicism, although no differences in the clinical phenotype were observed between patients with germline or somatic duplication. The GPR101 gene encodes an orphan G protein-coupled receptor normally expressed in the central nervous system, and at particularly high levels in the hypothalamus. While the physiological function and the endogenous ligand of GPR101 are unknown, the high expression of GPR101 in the arcuate nucleus and the occurrence of increased circulating GHRH levels in some patients with XLAG, suggest that increased hypothalamic GHRH secretion could play a role in the pathogenesis of this condition. In this review, we summarise the published evidence on XLAG and GPR101 and discuss the results of recent studies that have investigated the potential role of GPR101 variants in the pathogenesis of pituitary adenomas. Copyright © 2016 Elsevier Ltd. All rights reserved.

The relationship between substance use, drug selling, and lethal violence in 25 juvenile murderers.

Science.gov (United States)

Mclaughlin, C R; Daniel, J; Joost, T F

2000-03-01

The goal of the present study was to determine the relationship between substance use, drug selling, and lethal violence in adolescent male homicide offenders and their victims. The study employed a retrospective review of criminal justice databases and medical examiner records for murders committed by 25 adolescent males incarcerated in the Commonwealth of Virginia juvenile correctional centers from February 1992 to July 1996. The perpetrator sample was 84% African American and 16% white. The average age at the time of the offense was 15.0 years (range = 13.0 to 17.7 years). The victims were 84% male, 60% African American and 32% white. The median victim age was 28.0 years (mean = 34.8, range = 17 months to 75 years). The results indicated that 52% of the murders were committed by juveniles with identified involvement in drug selling, and 28% of the murders were drug-related. Toxicology results indicated recent drug or alcohol use in 27% of the victims; while 74% of the perpetrators reported substance use, 35% indicating daily use. Using discriminant analysis, it was possible to accurately classify 86% of the drug-related murders with the variables of recent victim drug use and perpetrator substance use history. The results indicated that adolescent males involved in the sale and distribution of illegal drugs comprised a significant percentage of those incarcerated for murder. Recent victim drug use and perpetrator substance use may be important variables in identifying drug-related juvenile homicides. These results underscore the link between substance use, drug selling, and lethal violence.

Effect of TBT on Ruditapes decussatus juveniles.

Science.gov (United States)

Coelho, M R; Langston, W J; Bebianno, M J

2006-06-01

The effects of sublethal concentrations of tributyltin (TBT) on growth of juvenile clams Ruditapes decussatus were determined during exposure to TBT concentrations of 50, 100 and 250 ng l(-1) (as Sn) for a period up to two years. Length and weight of clams increased continuously in all treatments throughout the experimental period, and, overall, rates were not significantly influenced by TBT exposure, although final length and weight were inversely related to increasing TBT concentration. Juvenile R. decussatus therefore appear to be less sensitive to TBT than larval stages. Some juveniles exposed to TBT developed abnormal shell growth, laterally, changing the typical flattened shape of clams into a more "rounded" form. This characteristic was more visible in the anterior margins of valves than posteriorly, and mainly observed in clams exposed to TBT at 50 ng l(-1) (as Sn).

A Novel PHEX Mutation in Japanese Patients with X-Linked Hypophosphatemic Rickets

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Tetsuya Kawahara

2015-01-01

Full Text Available X-linked hypophosphatemic rickets (XLH is a dominant inherited disorder characterized by renal phosphate wasting, aberrant vitamin D metabolism, and abnormal bone mineralization. Inactivating mutations in the gene encoding phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX have been found to be associated with XLH. Here, we report a 16-year-old female patient affected by hypophosphatemic rickets. We evaluated her serum fibroblast growth factor 23 (FGF23 levels and conducted sequence analysis of the disease-associated genes of FGF23-related hypophosphatemic rickets: PHEX, FGF23, dentin matrix protein 1, and ectonucleotide pyrophosphatase/phosphodiesterase 1. She was diagnosed with XLH based on her clinical features and family history. Additionally, we observed elevated FGF23 levels and a novel PHEX exon 9 mutation (c.947G>T; p.Gly316Val inherited from her father. Although bioinformatics showed that the mutation was neutral, Gly316 is perfectly conserved among humans, mice, and rats, and there were no mutations in other FGF23-related rickets genes, suggesting that in silico analysis is limited in determining mutation pathogenicity. In summary, we present a female patient and her father with XLH harboring a novel PHEX mutation that appears to be causative of disease. Measurement of FGF23 for hypophosphatemic patients is therefore useful for the diagnosis of FGF23-dependent hypophosphatemia.

Change in Family Structure and Rates of Violent Juvenile Delinquency

OpenAIRE

Fry, Jeannie A

2010-01-01

This paper addresses the question: Have the changes in family structure in the U.S. become a catalyst for juvenile delinquency? For this research, I use existing statistics for my three independent variables: divorce rates, rate of working mothers with children under age 18, percent female-headed households. My dependent variable, juvenile violent crime rates, is measured using data from the Office of Juvenile Justice and Delinquency Prevention. My control variables consist of the followin...

Setting a minimum age for juvenile justice jurisdiction in California

Science.gov (United States)

Barnert, Elizabeth S.; Abrams, Laura S.; Maxson, Cheryl; Gase, Lauren; Soung, Patricia; Carroll, Paul; Bath, Eraka

2018-01-01

Purpose Despite the existence of minimum age laws for juvenile justice jurisdiction in 18 US states, California has no explicit law that protects children (i.e. youth less than 12 years old) from being processed in the juvenile justice system. In the absence of a minimum age law, California lags behind other states and international practice and standards. The paper aims to discuss these issues. Design/methodology/approach In this policy brief, academics across the University of California campuses examine current evidence, theory, and policy related to the minimum age of juvenile justice jurisdiction. Findings Existing evidence suggests that children lack the cognitive maturity to comprehend or benefit from formal juvenile justice processing, and diverting children from the system altogether is likely to be more beneficial for the child and for public safety. Research limitations/implications Based on current evidence and theory, the authors argue that minimum age legislation that protects children from contact with the juvenile justice system and treats them as children in need of services and support, rather than as delinquents or criminals, is an important policy goal for California and for other national and international jurisdictions lacking a minimum age law. Originality/value California has no law specifying a minimum age for juvenile justice jurisdiction, meaning that young children of any age can be processed in the juvenile justice system. This policy brief provides a rationale for a minimum age law in California and other states and jurisdictions without one. Paper type Conceptual paper PMID:28299968

A longitudinal study of visual function in carriers of X-linked recessive retinitis pigmentosa.

Science.gov (United States)

Grover, S; Fishman, G A; Anderson, R J; Lindeman, M

2000-02-01

This study was carried out to evaluate the progression of visual function impairment in carriers of X-linked recessive retinitis pigmentosa. We also assessed the relationship between the retinal findings at presentation and the extent of deterioration. Observational, retrospective, case series. Twenty-seven carriers of X-linked recessive retinitis pigmentosa. Each carrier was clinically categorized into one of four grades (grades 0 through 3) depending on the presence or absence of a tapetal-like retinal reflex and the extent of peripheral pigmentary degeneration. A complete ophthalmologic examination was performed and data for visual acuity, visual field area, and electroretinographic measurements were collected on the most recent visit in both eyes. These were then compared with similar data obtained on their initial visits. A comparison of visual function was carried out between the initial visit and the most recent visit on each carrier. The visual acuity was measured with Snellen's acuity charts. The visual fields to targets V-4-e and II-4-e were planimeterized and used for the analysis. The electroretinographic (ERG) measures used were light-adapted single-flash b-wave amplitudes and 30-Hz red flicker for cone function, dark-adapted maximal b-wave amplitudes, and response to a low intensity blue-flash for rod function. None of the 11 carriers with a tapetal-like reflex only (grade 1) showed any significant change in visual acuity or fields as compared with 3 of 7 (43%) carriers with diffuse peripheral pigmentary findings (grade 3) who showed significant deterioration in visual acuity in at least one eye, and 6 of 7 (86%) who showed a significant decrease in visual field area with at least one target size in at least one eye. By comparison, only 1 of 10 carriers with a grade 1 fundus finding demonstrated a significant decrease in maximal dark-adapted ERG function as compared with 5 of 6 (83%) carriers with grade 3 in response to a single-flash stimulus and

Marine nurseries and effective juvenile habitats: concepts and applications.

NARCIS (Netherlands)

Dahlgren, C.P.; Kellison, G.T.; Adams, A.J.; Gillanders, B.M.; Kendall, M.S.; Layman, C.A.; Ley, J.A.; Nagelkerken, I.; Serafy, J.E.

2006-01-01

Much recent attention has been focused on juvenile fish and invertebrate habitat use, particularly defining and identifying marine nurseries. The most significant advancement in this area has been the development of a standardized framework for assessing the relative importance of juvenile habitats

X-linked congenital adrenal hypoplasia associated with hypospadias in an Egyptian baby: a case report

Directory of Open Access Journals (Sweden)

Metwalley Kotb

2012-12-01

Full Text Available Abstract Introduction X-linked congenital adrenal hypoplasia is a rare developmental disorder of the human adrenal cortex and is caused by deletion or mutation of the dosage-sensitive sex reversal adrenal hypoplasia congenita critical region of the X chromosome, gene 1 (DAX-1 gene. Most affected children present with failure to thrive, salt wasting and hypoglycemic convulsions in the first months of life. Hypospadias affects approximately one in 250 live male births. Mutations in the mastermind-like domain-containing 1 (MAMLD1 gene have been implicated as one of the causes of hypospadias in children. To the best of our knowledge, an association between congenital adrenal hypoplasia due to a DAX-1 mutation and hypospadias due to mutation of the MAMLD1 gene has not previously been reported in the literature. Case presentation A 35-day-old male Egyptian baby was referred to our institution for the evaluation of a two-week history of recurrent vomiting associated with electrolyte imbalance. On examination, our patient was found to have hypotension and dehydration. A genital examination showed distal penile hypospadias with chordee and normal testes. He had hyponatremia, hyperkalemia, hypoglycemia and metabolic acidosis. Endocrinological investigations revealed low levels of cortisol, 17-hydroxyprogesterone and aldosterone, with a high level of adrenocorticotrophic hormone. A provisional diagnosis of congenital adrenal hypoplasia associated with hypospadias was made. A molecular genetics study confirmed the diagnosis of X-linked congenital adrenal hypoplasia due to DAX-1 mutations and hypospadias due to MAMLD1 mutation. He was started on hydrocortisone and fludrocortisone treatment. After three weeks of treatment, his symptoms improved and his blood sugar, sodium, potassium and cortisol levels normalized. Conclusions We report the case of an Egyptian baby with an association of congenital adrenal hypoplasia due to DAX-1 mutation and hypospadias due

Changes in Imaging and Cognition in Juvenile Rats After Whole-Brain Irradiation

Energy Technology Data Exchange (ETDEWEB)

Brown, Robert J.; Jun, Brandon J. [Division of Molecular and Cellular Oncology, Department of Radiation Oncology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California (United States); Advanced Imaging Laboratory, Department of Radiology, Children' s Hospital Los Angeles, Los Angeles, California (United States); Rudi Schulte Research Institute, Santa Barbara, California (United States); Cushman, Jesse D. [Department of Psychology, University of California, Los Angeles, Los Angeles, California (United States); Nguyen, Christine; Beighley, Adam H.; Blanchard, Johnny; Iwamoto, Kei; Schaue, Dorthe [Division of Molecular and Cellular Oncology, Department of Radiation Oncology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California (United States); Harris, Neil G. [UCLA Brain Injury Research Center, Department of Neurosurgery, David Geffen School of Medicine at UCLA Center for the Health Sciences, Los Angeles, California (United States); Jentsch, James D. [Department of Psychology, University of California, Los Angeles, Los Angeles, California (United States); Bluml, Stefan [Advanced Imaging Laboratory, Department of Radiology, Children' s Hospital Los Angeles, Los Angeles, California (United States); Rudi Schulte Research Institute, Santa Barbara, California (United States); McBride, William H., E-mail: wmcbride@mednet.ucla.edu [Division of Molecular and Cellular Oncology, Department of Radiation Oncology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California (United States)

2016-10-01

Purpose: In pediatric cancer survivors treated with whole-brain irradiation (WBI), long-term cognitive deficits and morbidity develop that are poorly understood and for which there is no treatment. We describe similar cognitive defects in juvenile WBI rats and correlate them with alterations in diffusion tensor imaging and magnetic resonance spectroscopy (MRS) during brain development. Methods and Materials: Juvenile Fischer rats received clinically relevant fractionated doses of WBI or a high-dose exposure. Diffusion tensor imaging and MRS were performed at the time of WBI and during the subacute (3-month) and late (6-month) phases, before behavioral testing. Results: Fractional anisotropy in the splenium of the corpus callosum increased steadily over the study period, reflecting brain development. WBI did not alter the subacute response, but thereafter there was no further increase in fractional anisotropy, especially in the high-dose group. Similarly, the ratios of various MRS metabolites to creatine increased over the study period, and in general, the most significant changes after WBI were during the late phase and with the higher dose. The most dramatic changes observed were in glutamine-creatine ratios that failed to increase normally between 3 and 6 months after either radiation dose. WBI did not affect the ambulatory response to novel open field testing in the subacute phase, but locomotor habituation was impaired and anxiety-like behaviors increased. As for cognitive measures, the most dramatic impairments were in novel object recognition late after either dose of WBI. Conclusions: The developing brains of juvenile rats given clinically relevant fractionated doses of WBI show few abnormalities in the subacute phase but marked late cognitive alterations that may be linked with perturbed MRS signals measured in the corpus callosum. This pathomimetic phenotype of clinically relevant cranial irradiation effects may be useful for modeling, mechanistic

Changes in Imaging and Cognition in Juvenile Rats After Whole-Brain Irradiation

International Nuclear Information System (INIS)

Brown, Robert J.; Jun, Brandon J.; Cushman, Jesse D.; Nguyen, Christine; Beighley, Adam H.; Blanchard, Johnny; Iwamoto, Kei; Schaue, Dorthe; Harris, Neil G.; Jentsch, James D.; Bluml, Stefan; McBride, William H.

2016-01-01

Purpose: In pediatric cancer survivors treated with whole-brain irradiation (WBI), long-term cognitive deficits and morbidity develop that are poorly understood and for which there is no treatment. We describe similar cognitive defects in juvenile WBI rats and correlate them with alterations in diffusion tensor imaging and magnetic resonance spectroscopy (MRS) during brain development. Methods and Materials: Juvenile Fischer rats received clinically relevant fractionated doses of WBI or a high-dose exposure. Diffusion tensor imaging and MRS were performed at the time of WBI and during the subacute (3-month) and late (6-month) phases, before behavioral testing. Results: Fractional anisotropy in the splenium of the corpus callosum increased steadily over the study period, reflecting brain development. WBI did not alter the subacute response, but thereafter there was no further increase in fractional anisotropy, especially in the high-dose group. Similarly, the ratios of various MRS metabolites to creatine increased over the study period, and in general, the most significant changes after WBI were during the late phase and with the higher dose. The most dramatic changes observed were in glutamine-creatine ratios that failed to increase normally between 3 and 6 months after either radiation dose. WBI did not affect the ambulatory response to novel open field testing in the subacute phase, but locomotor habituation was impaired and anxiety-like behaviors increased. As for cognitive measures, the most dramatic impairments were in novel object recognition late after either dose of WBI. Conclusions: The developing brains of juvenile rats given clinically relevant fractionated doses of WBI show few abnormalities in the subacute phase but marked late cognitive alterations that may be linked with perturbed MRS signals measured in the corpus callosum. This pathomimetic phenotype of clinically relevant cranial irradiation effects may be useful for modeling, mechanistic

75 FR 70293 - Meeting of the Federal Advisory Committee on Juvenile Justice

Science.gov (United States)

2010-11-17

... DEPARTMENT OF JUSTICE Office of Justice Programs [OJP (OJJDP) Docket No. 1532] Meeting of the Federal Advisory Committee on Juvenile Justice AGENCY: Office of Juvenile Justice and Delinquency Prevention, Office of Justice Programs, Justice. ACTION: Notice of Meeting. SUMMARY: The Office of Juvenile...

Juvenile delinquency in Russia: Ccriminal justice, trends, key issues

Directory of Open Access Journals (Sweden)

Kovačević Milica

2015-01-01

Full Text Available In the literature, as well as in international statistical surveys, we can rarely find more detailed information on juvenile delinquency in the Russian Federation, as well as on the criminal reaction towards juvenile offenders. Due to the turbulent conditions and great social turmoil which took place in the last few decades in this country, there should be a greater interest in the problem of juvenile delinquency. For Serbia, the experience of the Russian Federation could be especially important if one bears in mind that our country is still going through a transition, population stratification and through economic crisis, and also that Serbia and the Russian Federation share some cultural and religious similarities. Therefore, the aim of this paper is to present, in the summary way, the basic features of juvenile delinquency and the criminal justice system, and thereby build a basis for future research and comparison.

X-Linked Dystonia Parkinsonism: Clinical Phenotype, Genetics and Therapeutics

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Raymond L. Rosales

2010-10-01

Full Text Available The clinical phenotype of X-Linked Dystonia Parkinsonism (XDP is typically one that involves a Filipino adult male whose ancestry is mostly traced in the Philippine island of Panay. Dystonia usually starts focally in the lower limbs or oromandibular regions, then spreads to become generalized eventually. Parkinsonism sets in later into the disease and usually in combination with dystonia. /DYT3/ and /TAF1/ are the two genes associated with XDP. An SVA retrotransposon insertion in an intron of /TAF1/ may reduce neuron-specific expression of the /TAF1/ isoform in the caudate nucleus, and subsequently interfere with the transcription of many neuronal genes. Polypharmacy with oral benzodiazepines, anticholinergic agents and muscle relaxants leaves much to be desired in terms of efficacy. The medications to date that may appear beneficial, especially in disabling dystonias, are zolpidem, muscle afferent block with lidocaine-ethanol and botulinum toxin type A. Despite the few cases undergoing deep brain stimulation, this functional surgery has shown the greatest promise in XDP. An illustrative case of XDP in a family depicts the variable course of illness, including a bout of “status dystonicus,” challenges in therapy, reckoning with the social impact of the disease, and eventual patient demise. Indeed, there remains some gaps in understanding some phenomenological, genetic and treatment aspects of XDP, the areas upon which future research directions may be worthwhile.

X-linked dominant protoporphyria: The first reported Japanese case.

Science.gov (United States)

Ninomiya, Yukiko; Kokunai, Yasuhito; Tanizaki, Hideaki; Akasaka, Eijiro; Nakano, Hajime; Moriwaki, Shinichi

2016-04-01

A 12-year-old boy with photosensitivity since 3 years of age presented with small concavities on both cheeks, the nasal root and the dorsal surface of both hands. According to the clinical features, erythropoietic protoporphyria (EPP) was suspected. Urine and blood samples were tested for porphyrin derivatives, which revealed a markedly elevated level of erythrocyte protoporphyrin (EP) and a diagnosis of EPP was made. The patient's mother had no photosensitivity, however, lesions appearing slightly as small scars were found on the dorsum of her right hand; his elder sister and father showed no rash. The EP levels were elevated in samples from his mother and mildly elevated in those from his elder sister and father. To obtain a definitive diagnosis, genetic analyses were performed using samples from all family members, which revealed no mutations in the ferrochelatase-encoding gene (FECH), which is responsible for EPP. Instead, a pathological mutation of the 5-aminolevulinic acid synthase-encoding gene (ALAS2) was identified in samples from the patient, his mother and his elder sister, confirming a definitive diagnosis of X-linked dominant protoporphyria (XLDPP). This is the first Japanese family reported to have XLDPP, demonstrating evidence of the condition in Japan. In addition, because XLDPP is very similar to EPP in its clinical aspects and laboratory findings, a genetic analysis is required for the differential diagnosis. © 2015 Japanese Dermatological Association.

Radioangiography in diagnosis of juvenile angiofibroma

International Nuclear Information System (INIS)

Kalantarov, K.D.; Anyutin, R.G.; Ashikhmina, I.G.

1979-01-01

To study the blood supply of juvenile angiofibroma of the nasopharynx 10 patients were examined (2 of them were examined twice). Four patients with the deseases of the nose and the nasopharynx of a nonvascular nature were in the control group. The authors used sup(99m)Tc for radioangiography. The investigations were made on the gamma-chamber ''Nuclear-Chicago'' connected to the computer ''Cina-200''. Ten patients with juvenile angiofibroma of the nasopharynx showed rapid accumulation of the radioactive substance at the site of the tumour exceeding its concentration in the carotic arteries by 4-10 times. In unilateral localization of angiofibroma, its blood supply was provided mainly through the external carotic artery at the affection site or evenly through the both external carotic arteries. The data on dynamic distribution of the radioactive substance, scintiphotograms and clinical observations allow a distinct differentiation between juvenile angiofibroma of the nasopharynx the adenoid tissue or any other tumour to determine the angiofibroma size as well as to follow the results of surgical and radiation treatment

In search of psychosocial variables linked to the recidivism in young offenders.

Directory of Open Access Journals (Sweden)

María del Carmen Cano

2011-01-01

Full Text Available Most of the literature on juvenile delinquency is aimed to the identification of the protective and risk factors of the antisocial and criminal behaviors. In this line, a study was carried out to assess whether the family setting, personal variables of the youngster and variables linked to the judicial measure execution mediate in recidivism. For this reason, all the closed judicial files of the young offenders from the Service of Juvenile Justice in Jaén (Spain have been analysed. The results showed that such family setting variables as broken homes, large families, low incomes, deprived neighborhoods, criminal records, drug abuse, children protection records and crime legitimacy are linked to recidivism. As for personal variables of the youngster, the findings illustrate that re-offenders are characterized by external attribution, deficits in social skills, deficits in self-control, violent behaviors and low tolerance to frustration. In relation to the judicial measure execution variables, data support that the non re-offenders are defined in contrast to re-offenders, by a high compliance with rules and timetables and with the established objectives, as well as a high family involvement during the judicial measure execution. The implications of the results for prevention of recidivism are discussed.

Relapsing Remitting Multiple Sclerosis in X-Linked Charcot-Marie-Tooth Disease with Central Nervous System Involvement

OpenAIRE

Koutsis, Georgios; Karadima, Georgia; Floroskoufi, Paraskewi; Raftopoulou, Maria; Panas, Marios

2015-01-01

We report a patient with relapsing remitting multiple sclerosis (MS) and X-linked Charcot-Marie-Tooth disease (CMTX), carrying a GJB1 mutation affecting connexin-32 (c.191G>A, p. Cys64Tyr) which was recently reported by our group. This is the third case report of a patient with CMTX developing MS, but it is unique in the fact that other family members carrying the same mutation were found to have asymptomatic central nervous system (CNS) involvement (diffuse white matter hyperintensity on bra...

Mutilating keratoderma with concomitant alopecia and keratoses follicularis spinulosa decalvans: X-linked olmsted syndrome and its response to isotretinoin

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Gunjan Verma

2017-01-01

Full Text Available We report a case of mutilating keratoderma with alopecia and keratoses follicularis spinulosa decalvans (KFSD, which was initially diagnosed as ectodermal dysplasia and Olmsted syndrome but was revisited as a case of X-linked Olmsted (XLO syndrome. We focus on this uncommon entity (XLO to highlight the differentials of alopecia with palmoplantar keratoderma.

Social skills training for juvenile delinquents : post-treatment changes

NARCIS (Netherlands)

van der Stouwe, Trudy; Asscher, Jessica J.; Hoeve, Machteld; van der Laan, Peter H.; Stams, Geert Jan J M

2016-01-01

Objectives: To examine the post-treatment effectiveness of an outpatient, individual social skills training for juvenile delinquents in the Netherlands and to conduct moderator tests for age, gender, ethnicity, and risk of reoffending. Methods: The sample consisted of juveniles who received Tools4U,

Social Skills Training for Juvenile Delinquents: Post-Treatment Changes

NARCIS (Netherlands)

van der Stouwe, Trudy; Asscher, J.J.; Stams, G.J.J.M.; Hoeve, M.; van der Laan, Peter H.

2016-01-01

Objectives: To examine the post-treatment effectiveness of an outpatient, individual social skills training for juvenile delinquents in the Netherlands and to conduct moderator tests for age, gender, ethnicity, and risk of reoffending. Methods: The sample consisted of juveniles who received Tools4U,

Social skills training for juvenile delinquents : Post-treatment changes

NARCIS (Netherlands)

van der Stouwe, T.; Asscher, J.J.; Hoeve, M.; van der Laan, P.H.; Stams, G.J.J.M.

2016-01-01

Objectives To examine the post-treatment effectiveness of an outpatient, individual social skills training for juvenile delinquents in the Netherlands and to conduct moderator tests for age, gender, ethnicity, and risk of reoffending. Methods The sample consisted of juveniles who received Tools4U, a

Genetics Home Reference: X-linked dilated cardiomyopathy

Science.gov (United States)

... The other conditions in the spectrum, Duchenne and Becker muscular dystrophy , are characterized by progressive weakness and wasting of ... linked dilated cardiomyopathy is sometimes classified as subclinical Becker muscular dystrophy. Related Information What does it mean if a ...

Model structure of the stream salmonid simulator (S3)—A dynamic model for simulating growth, movement, and survival of juvenile salmonids

Science.gov (United States)

Perry, Russell W.; Plumb, John M.; Jones, Edward C.; Som, Nicholas A.; Hetrick, Nicholas J.; Hardy, Thomas B.

2018-04-06

Fisheries and water managers often use population models to aid in understanding the effect of alternative water management or restoration actions on anadromous fish populations. We developed the Stream Salmonid Simulator (S3) to help resource managers evaluate the effect of management alternatives on juvenile salmonid populations. S3 is a deterministic stage-structured population model that tracks daily growth, movement, and survival of juvenile salmon. A key theme of the model is that river flow affects habitat availability and capacity, which in turn drives density dependent population dynamics. To explicitly link population dynamics to habitat quality and quantity, the river environment is constructed as a one-dimensional series of linked habitat units, each of which has an associated daily time series of discharge, water temperature, and usable habitat area or carrying capacity. The physical characteristics of each habitat unit and the number of fish occupying each unit, in turn, drive survival and growth within each habitat unit and movement of fish among habitat units.The purpose of this report is to outline the underlying general structure of the S3 model that is common among different applications of the model. We have developed applications of the S3 model for juvenile fall Chinook salmon (Oncorhynchus tshawytscha) in the lower Klamath River. Thus, this report is a companion to current application of the S3 model to the Trinity River (in review). The general S3 model structure provides a biological and physical framework for the salmonid freshwater life cycle. This framework captures important demographics of juvenile salmonids aimed at translating management alternatives into simulated population responses. Although the S3 model is built on this common framework, the model has been constructed to allow much flexibility in application of the model to specific river systems. The ability for practitioners to include system-specific information for the

First report on an X-linked hypohidrotic ectodermal dysplasia family with X chromosome inversion: Breakpoint mapping reveals the pathogenic mechanism and preimplantation genetics diagnosis achieves an unaffected birth.

Science.gov (United States)

Wu, Tonghua; Yin, Biao; Zhu, Yuanchang; Li, Guangui; Ye, Lijun; Liang, Desheng; Zeng, Yong

2017-12-01

To investigate the etiology of X-linked hypohidrotic ectodermal dysplasia (XLHED) in a family with an inversion of the X chromosome [inv(X)(p21q13)] and to achieve a healthy birth following preimplantation genetic diagnosis (PGD). Next generation sequencing (NGS) and Sanger sequencing analysis were carried out to define the inversion breakpoint. Multiple displacement amplification, amplification of breakpoint junction fragments, Sanger sequencing of exon 1 of ED1, haplotyping of informative short tandem repeat markers and gender determination were performed for PGD. NGS data of the proband sample revealed that the size of the possible inverted fragment was over 42Mb, spanning from position 26, 814, 206 to position 69, 231, 915 on the X chromosome. The breakpoints were confirmed by Sanger sequencing. A total of 5 blastocyst embryos underwent trophectoderm biopsy. Two embryos were diagnosed as carriers and three were unaffected. Two unaffected blastocysts were transferred and a singleton pregnancy was achieved. Following confirmation by prenatal diagnosis, a healthy baby was delivered. This is the first report of an XLHED family with inv(X). ED1 is disrupted by the X chromosome inversion in this XLHED family and embryos with the X chromosomal abnormality can be accurately identified by means of PGD. Copyright © 2017. Published by Elsevier B.V.

Tracking from the tropics reveals behaviour of juvenile songbirds on their first spring migration.

Directory of Open Access Journals (Sweden)

Emily A McKinnon

Full Text Available Juvenile songbirds on spring migration travel from tropical wintering sites to temperate breeding destinations thousands of kilometres away with no prior experience to guide them. We provide a first glimpse at the migration timing, routes, and stopover behaviour of juvenile wood thrushes (Hylocichla mustelina on their inaugural spring migration by using miniaturized archival geolocators to track them from Central America to the U.S. and Canada. We found significant differences between the timing of juvenile migration and that of more experienced adults: juveniles not only departed later from tropical wintering sites relative to adults, they also became progressively later as they moved northward. The increasing delay was driven by more frequent short stops by juveniles along their migration route, particularly in the U.S. as they got closer to breeding sites. Surprisingly, juveniles were just as likely as adults to cross the Gulf of Mexico, an open-water crossing of 800-1000 km, and migration route at the Gulf was not significantly different for juveniles relative to adults. To determine if the later departure of juveniles was related to poor body condition in winter relative to adults, we examined percent lean body mass, fat scores, and pectoral muscle scores of juvenile versus adult birds at a wintering site in Belize. We found no age-related differences in body condition. Later migration timing of juveniles relative to adults could be an adaptive strategy (as opposed to condition-dependent to avoid the high costs of fast migration and competition for breeding territories with experienced and larger adults. We did find significant differences in wing size between adults and juveniles, which could contribute to lower flight efficiency of juveniles and thus slower overall migration speed. We provide the first step toward understanding the "black box" of juvenile songbird migration by documenting their migration timing and en route performance.

Martial arts participation and externalizing behavior in juveniles : A meta-analytic review

NARCIS (Netherlands)

Gubbels, J.; van der Stouwe, T.; Spruit, A.; Stams, G.J.J.M.

2016-01-01

Martial arts are very popular among juveniles all over the world, but the relation between martial arts and externalizing behavior in juveniles remains unclear. The current multilevel meta-analysis of 12 studies, including 94 effect sizes and N = 5949 juveniles, was conducted to examine the relation

PPM-X: A new X-linked mental retardation syndrome with psychosis, pyramidal signs, and macroorchidism maps to Xq28

Energy Technology Data Exchange (ETDEWEB)

Lindsay, S.; Splitt, M.; Edney, S. [Univ. of Newcastle upon Tyne (United Kingdom)] [and others

1996-06-01

We report a three-generation family manifesting a previously undescribed X-linked mental retardation syndrome. Four of the six moderately retarded males have had episodes of manic-depressive psychosis. The phenotype also includes pyramidal signs, Parkinsonian features, and macroorchidism, but there are no characteristic dysmorphic facial features. Affected males do not show fragile sites at distal Xq on cytogenetic analysis, nor do they have expansions of the CGG repeats at the FRAXA, FRAXE, or FRAXF loci. Linkage analyses were undertaken, and a maximal LOD score of 3.311 at {theta} = .0 was observed with the microsatellite marker DXS1123 in Xq28. A recombination was detected in one of the affected males with DXS1691 (Xq28), which gives the proximal boundary of the localization. No distal recombination has been detected at any of the loci tested. 31 refs., 2 figs., 2 tabs.

CORRELATION BETWEEN FAMILY COMMUNICATION PATTERNS AND JUVENILE DELINQUENCY IN JUNIOR HIGH SCHOOL

Directory of Open Access Journals (Sweden)

Zurriyatun Thoyibah

2017-08-01

Full Text Available Background: Adolescents who are in transition period have high risk behavior of juvenile delinquency. Communication between parents and adolescents effectively and openly could help adolescents to avoid delinquency behavior. Objective: This study aims to examine the relationship between family communication patterns and juvenile delinquency in Junior High School. Methods: This research employed a cross-sectional design with correlation description approach. There were 243 students selected using simple random sampling from the 7th and 8th grade students of Junior High School. A questionnaire of juvenile delinquency and family communication pattern were used in this study. Data were analyzed using Chi Square test. Result: The research showed that the majority juvenile delinquency category was low (65% and the majority of communication pattern was in functional category (73.3%. There was a significant relationship between family communication pattern and juvenile delinquency (p<0.05. Conclusion: Communication pattern within family have significant association with juvenile delinquency.

Cardiac juvenile xanthogranuloma in an infant presenting with pericardial effusion.

Science.gov (United States)

Kobayashi, Daisuke; Delius, Ralph E; Debelenko, Larisa V; Aggarwal, Sanjeev

2013-01-01

Juvenile xanthogranuloma is a rare histiocytic disorder of childhood mainly affecting skin and rarely deep soft tissues and viscera. We report a 2-month-old infant who presented with respiratory distress secondary to a large pericardial effusion associated with an epicardial mass. Excisional biopsy was performed and the mass was diagnosed as juvenile xanthogranuloma. The child is well without evidence of disease 8 months following the excision. The corresponding literature on juvenile xanthogranuloma with cardiac manifestations is reviewed. © 2012 Wiley Periodicals, Inc.

X-linked Myotubular Myopathy with a Novel MTM1 Mutation in a Taiwanese Child

Directory of Open Access Journals (Sweden)

Chia-Ying Chang

2008-12-01

Full Text Available We report a male, preterm newborn infant with X-linked myotubular myopathy, the most severe type of the disease. He presented at birth with generalized hypotonia, difficulty in swallowing, and respiratory distress with frequent episodes of atelectasis. The infant had a long thin face, generalized hypotonia, and arachnodactyly. Diagnosis was based on fetal history, muscle histopathology, electron microscopy and a genetic study. A base pair change was detected in exon 11 of the MTM1 gene: c.1160C > A, which caused an amino acid change, p.S387Y. The father's gene was normal but the mother had the same mutation as her son and was thus a carrier.

Magnetic Resonance Imaging Features as Surrogate Markers of X-Linked Hypophosphatemic Rickets Activity.

Science.gov (United States)

Lempicki, Marta; Rothenbuhler, Anya; Merzoug, Valérie; Franchi-Abella, Stéphanie; Chaussain, Catherine; Adamsbaum, Catherine; Linglart, Agnès

2017-01-01

X-linked hypophosphatemic rickets (XLH) is the most common form of inheritable rickets. Rickets treatment is monitored by assessing alkaline phosphatase (ALP) levels, clinical features, and radiographs. Our objectives were to describe the magnetic resonance imaging (MRI) features of XLH and to assess correlations with disease activity. Twenty-seven XLH patients (median age 9.2 years) were included in this prospective single-center observational study. XLH activity was assessed using height, leg bowing, dental abscess history, and serum ALP levels. We looked for correlations between MRI features and markers of disease activity. On MRI, the median maximum width of the physis was 5.6 mm (range 4.8-7.8; normal 1.5 mm in all of the patients. The appearance of the zone of provisional calcification was abnormal on 21 MRI images (78%), Harris lines were present on 24 (89%), and bone marrow signal abnormalities were present on 16 (59%). ALP levels correlated with the maximum physeal widening and with the transverse extent of the widening. MRI of the knee provides precise rickets patterns that are correlated with ALP, an established biochemical marker of the disease, avoiding X-ray exposure and providing surrogate quantitative markers of disease activity. © 2017 S. Karger AG, Basel.

Angiofibroma juvenil nasofaríngeo Juvenile nasopharyngeal angiofibroma

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Juan Gualberto Lescaille Torres

2012-06-01

Full Text Available Se presenta el caso de un angiofibroma juvenil nasofaríngeo, en un paciente del consultorio médico No. 9, que pertenece al Policlínico Integral Docente "Carlos Manuel Portuondo" de Marianao. Se reconoce la importancia de realizar una historia clínica detallada, así como un minucioso examen físico, por el médico de familia y el otorrinolaringólogo del área de salud, que incluyó la rinoscopia posterior, para poder llegar al diagnóstico de esa patología, y realizar la extirpación precoz del angiofibroma, mediante el proceder quirúrgico. Se concluyó que el diagnóstico clínico se correspondió con el histopatológico, y que la conducta quirúrgica temprana es resolutiva en la afección.It is presented a case of juvenile nasopharyngeal angiofibroma in a patient with this pathology, from the clicial practice No. 9, in Comprehensive Teaching Polyclinic "Carlos Manuel Portuondo" in Marianao. It recognizes the importance of a thorough clinical history and careful physical examination by the family physician and the otolaryngologist in this health area, including a posterior rhinoscopy, to diagnose this disease and to achieve early removal of the angiofibroma, by a surgical procedure. It was concluded that the clinical diagnosis corresponded to the histopathological diagnosis, and that early surgical treatment is resolute in this condition.

Naevoxanthoendothelioma (Synonym: Juvenile Xanthogranuloma

Directory of Open Access Journals (Sweden)

F Handa

1978-01-01

Full Text Available A case of naevoxanthoendothelioma juvenile xanthogranuloma is reported with rare features like late onset of the disease, involvement of liver and diffuse cutaneous lesions including cafe au lait spots and pigmented naevus. Final diagnosis could be achieved only on histopathology report.

The Nance-Horan syndrome: a rare X-linked ocular-dental trait with expression in heterozygous females.

Science.gov (United States)

Bixler, D; Higgins, M; Hartsfield, J

1984-07-01

This report describes two families with the Nance-Horan syndrome, an X-linked trait featuring lenticular cataracts and anomalies of tooth shape and number. Previous reports have described blindness in affected males but posterior sutural cataracts with normal vision as the primary ocular expression in heterozygous females. In one of these two families, the affected female is not only blind in one eye but reportedly had supernumerary central incisors (mesiodens) removed. This constitutes the most severe ocular and dental expression of this gene in heterozygous females yet reported.

The Impact of Banning Juvenile Gun Possession.

OpenAIRE

Marvell, Thomas B

2001-01-01

A 1994 federal law bans possession of handguns by persons under 18 years of age. Also in 1994, 11 states passed their own juvenile gun possession bans. Eighteen states had previously passed bans, 15 of them between 1975 and 1993. These laws were intended to reduce homicides, but arguments can be made that they have no effect on or that they even increase the homicide rate. This paper estimates the laws' impacts on various crime measures, primarily juvenile gun homicide victimizations and suic...

Effect of moderate exercise on peritoneal neutrophils from juvenile rats.

Science.gov (United States)

Braz, Glauber Ruda; Ferreira, Diorginis Soares; Pedroza, Anderson Apolonio; da Silva, Aline Isabel; Sousa, Shirley Maria; Pithon-Curi, Tania Cristina; Lagranha, Claudia

2015-09-01

Previous studies showed that moderate exercise in adult rats enhances neutrophil function, although no studies were performed in juvenile rats. We evaluated the effects of moderate exercise on the neutrophil function in juvenile rats. Viability and neutrophils function were evaluated. Moderate exercise did not impair the viability and mitochondrial transmembrane potential of neutrophils, whereas there was greater reactive oxygen species production (164%; p < 0.001) and phagocytic capacity (29%; p < 0.05). Our results suggest that moderate exercise in juvenile rats improves neutrophil function, similar to adults.

MR imaging of arthropathies of juvenile arthritis and hemophilia

International Nuclear Information System (INIS)

Yulish, B.S.; Lieberman, J.; Mulopoulos, G.P.; Strandjord, S.; Newman, A.; Goodfellow, D.; Bryan, P.J.; Modic, M.T.

1986-01-01

The arthropathies of juvenile arthritis and hemophilia have in common abnormal hyperplastic synovium leading to marginal bone erosion, articular cartilage destruction, subchondral bone exposure, and dissolution and ultimately collapse of the affected joint. The authors examined children and young adults with juvenile arthritis and hemophilia by MR imaging and found that they could identify hyperplastic synovium, articular cartilage lesions, bone erosions, and joint effusions. This has therapeutic implications since identification of progressive synovial hyperplasia and/or early cartilage or marginal bone erosion may lead to earlier synovectomy in patients with hemophilia or switch to second line drugs in patients with juvenile arthritis, in an attempt to prevent progressive joint destruction

Juvenile Fibromyalgia: A Multidisciplinary Approach to Treatment.

Science.gov (United States)

Tesher, Melissa S

2015-06-01

A 14-year-old boy presented with months of severe widespread musculoskeletal pain. He was profoundly fatigued and unable to attend school. Laboratory evaluation, including complete blood count, comprehensive metabolic panel, inflammatory markers, and thyroid function, was unrevealing. Physical examination was also normal except for multiple tender points. The patient was diagnosed with juvenile primary fibromyalgia syndrome and referred for multidisciplinary treatment including physical therapy, exercise, and counseling, and his daily functioning gradually improves. Juvenile fibromyalgia is a complex syndrome that often severely limits patients' activities and can impede normal adolescent development. Effective treatment requires an understanding of the biologic, psychologic, and social factors contributing to the perpetuation of chronic pain. The author reviews the diagnostic criteria, pathophysiology, and treatment of juvenile fibromyalgia. Medications, particularly antidepressants and anticonvulsants, can be useful adjuncts to therapy. However, multimodal pain management including intensive physical therapy, exercise, counseling, and sleep hygiene is most effective in treating fibromyalgia. Copyright 2015, SLACK Incorporated.

The Juvenile Addiction Risk Rating: Development and Initial Psychometrics

Science.gov (United States)

Powell, Michael; Newgent, Rebecca A.

2016-01-01

This article describes the development and psychometrics of the Juvenile Addiction Risk Rating. The Juvenile Addiction Risk Rating is a brief screening of addiction potential based on 10 risk factors predictive of youth alcohol and drug-related problems that assists examiners in more accurate treatment planning when self-report information is…

Federal Juvenile Delinquency Programs: First Analysis and Evaluation. Volumes One and Two.

Science.gov (United States)

National Inst. for Juvenile Justice and Delinquency Prevention (Dept. of Justice/LEAA), Washington, DC.

This publication outlines the activities of the Office of Juvenile Justice since its creation. It also reports on the entire Federal effort in delinquency prevention and juvenile justice. An introductory section describes the history and purpose of the Juvenile Justice and Delinquency Prevention Act of 1974 (Public Law 93-415). Other sections…

Evolution of recidivism risk, using the YLS/CMI Inventory in a population of juvenile offenders

Directory of Open Access Journals (Sweden)

Keren Cuervo Gómez

2017-05-01

Full Text Available Risk assessment in juvenile recidivism allows understanding the specific factors that drives the juvenile to the commission of offences. Most of these juveniles will have a punctual relation with the justice system and only a small percentage will persist in this type of conducts. However, it seems that society perceives these juveniles as high risk offenders with high rates of recidivism. Hence, with the aim to clarify this topic, the objective of this paper is to explore the general risk of recidivism and the areas with higher risk, examining the risk of recidivism in a follow up period. Participants in this research were juveniles with a criminal record in the Juvenile Court of Castellón (N = 210. The Youth Level of Service/Case Management Inventory (YLS/CMI was administered to the juveniles along the follow up period of two years. Results show a majoritary profile of low risk juveniles, and a punctual relation with justice, rejecting the belief of dangerousness on juvenile offenders. On the contrary, juvenile recidivists with long criminal trajectories are in fact characterized by a high risk that would increase throughout the follow up period.

Youth Drug Offenders: An Examination of Criminogenic Risk and Juvenile Recidivism

OpenAIRE

Papp, Jordan; Campbell, Christina; Onifade, Eyitayo; Anderson, Valerie; Davidson, William; Foster, Dawn

2016-01-01

Understanding the criminogenic risk factors and treatment needs of juvenile drug offenders is important because of the myriad negative outcomes that befall juveniles that are involved in drugs. A widely used juvenile risk assessment tool, the Youth Level of Service/Case Management Inventory (YLS/CMI) was utilized to explore criminogenic risk factors and treatment needs to predict recidivism. Demographic differences between drug and nondrug offenders were also examined. Results ...

Juvenile psammomatoid ossifying fibroma: An unusual case report

Directory of Open Access Journals (Sweden)

Nidhi Yadav

2013-01-01

Full Text Available Ossifying fibromas are well-demarcated benign fibro-osseous tumors of craniofacial skeleton most often in the jaws. It has two types, conventional and juvenile ossifying fibroma (JOF. JOF is considered a separate entity from ossifying fibroma due to its locally aggressive behavior and tendency to occur at a young age. Two subtypes of JOF, i.e., juvenile psammomatoid ossifying fibroma (JPOF and juvenile trabecular ossifying fibroma have been identified on the basis of histology 70% of the JPOF occur in the paranasal sinuses, 20% in the maxilla and only 10% in the mandible. Here, we report a case of JPOF in a 14-year-old girl causing an asymptomatic expansile swelling in the right mandibular posterior region, which is a rare site for this tumor.

A PRACTICAL APPROACH TO THE DETECTION OF ANDROGEN RECEPTOR GENE-MUTATIONS AND PEDIGREE ANALYSIS IN FAMILIES WITH X-LINKED ANDROGEN INSENSITIVITY

NARCIS (Netherlands)

RISSTALPERS, C; HOOGENBOEZEM, T; SLEDDENS, HFBM; VERLEUNMOOIJMAN, MCT; DEGENHART, HJ; DROP, SLS; HALLEY, DJJ; Oosterwijk, Jan; HODGINS, MB; TRAPMAN, J; BRINKMANN, AO

Androgen insensitivity syndrome (AIS) is an X-linked disorder in which defects in the androgen receptor gene have prevented the normal development of both internal and external male structures in 46,XY individuals. This survey reports the analysis of 11 AIS subjects. The androgen receptor gene of

A practical approach to the detection of androgen receptor gene mutations and pedigree analysis in families with x-linked androgen insensitivity

NARCIS (Netherlands)

Ris-Stalpers, C.; Hoogenboezem, T.; Sleddens, H. F.; Verleun-Mooijman, M. C.; Degenhart, H. J.; Drop, S. L.; Halley, D. J.; Oosterwijk, J. C.; Hodgins, M. B.; Trapman, J.

1994-01-01

Androgen insensitivity syndrome (AIS) is an X-linked disorder in which defects in the androgen receptor gene have prevented the normal development of both internal and external male structures in 46,XY individuals. This survey reports the analysis of 11 AIS subjects. The androgen receptor gene of

Juvenile idiopathic arthritis – an update on its diagnosis and ...

African Journals Online (AJOL)

2015-12-03

Dec 3, 2015 ... Juvenile idiopathic arthritis (JIA) is the most common form of chronic arthritis in children and the most ... A swollen knee and uveitis in a young girl, for instance, is ..... Methotrexate for treating juvenile idiopathic arthritis.

Dependent vs. independent juvenile survival: contrasting drivers of variation and the buffering effect of parental care.

Science.gov (United States)

Dybala, Kristen E; Gardali, Thomas; Eadie, John M

2013-07-01

Juvenile survival is often found to be more sensitive than adult survival to variation in environmental conditions, and variation in juvenile survival can have significant impacts on population growth rates and viability. Therefore, understanding the population-level effects of environmental changes requires understanding the effects on juvenile survival. We hypothesized that parental care will buffer the survival of dependent juveniles from variation in environmental conditions, while the survival of independent juveniles will respond more strongly to environmental variation and, in turn, drive the overall variation in annual juvenile survival. We tested this parental-care hypothesis using a 30-year mark-recapture data set to model the survival of juvenile Song Sparrows (Melospiza melodia) during the dependent and independent stages. We examined the effects of weather, density, and cohort mean fledge date and body mass on annual variation in survival during the first 12 weeks after fledging, as well as effects of individual fledge date and body mass on individual variation in survival. The primary driver of annual variation in juvenile survival was precipitation during the previous rainy season, consistent with an effect on food availability, which had a strong positive effect on the survival of independent juveniles, but no effect on dependent juveniles. We also found strong support for effects of body mass and fledge date on individual survival probability, including striking differences in the effect of fledge date by stage. Our results provided evidence that different mechanisms influence juvenile survival during each stage of fledgling development, and that parental care buffers the survival of dependent juveniles from variation in environmental conditions. Consequently, variation in juvenile survival was driven by independent juveniles, not dependent juveniles, and studies focused only on survival during the dependent stage may not be able to detect the

How body mass and lifestyle affect juvenile biomass production in placental mammals.

Science.gov (United States)

Sibly, Richard M; Grady, John M; Venditti, Chris; Brown, James H

2014-02-22

In mammals, the mass-specific rate of biomass production during gestation and lactation, here called maternal productivity, has been shown to vary with body size and lifestyle. Metabolic theory predicts that post-weaning growth of offspring, here termed juvenile productivity, should be higher than maternal productivity, and juveniles of smaller species should be more productive than those of larger species. Furthermore because juveniles generally have similar lifestyles to their mothers, across species juvenile and maternal productivities should be correlated. We evaluated these predictions with data from 270 species of placental mammals in 14 taxonomic/lifestyle groups. All three predictions were supported. Lagomorphs, perissodactyls and artiodactyls were very productive both as juveniles and as mothers as expected from the abundance and reliability of their foods. Primates and bats were unproductive as juveniles and as mothers, as expected as an indirect consequence of their low predation risk and consequent low mortality. Our results point the way to a mechanistic explanation for the suite of correlated life-history traits that has been called the slow-fast continuum.

Modeling X-linked ancestral origins in multiparental populations

NARCIS (Netherlands)

Zheng, Chaozhi

2015-01-01

The models for the mosaic structure of an individual's genome from multiparental populations have been developed primarily for autosomes, whereas X chromosomes receive very little attention. In this paper, we extend our previous approach to model ancestral origin processes along two X chromosomes

X-linked adrenoleukodystrophy: correlation between Loes score and diffusion tensor imaging parameters.

Science.gov (United States)

Ono, Sergio Eiji; de Carvalho Neto, Arnolfo; Gasparetto, Emerson Leandro; Coelho, Luiz Otávio de Mattos; Escuissato, Dante Luiz; Bonfim, Carmem Maria Sales; Ribeiro, Lisandro Lima

2014-01-01

The present study was aimed at evaluating the correlation between diffusion tensor imaging parameters and Loes score as well as whether those parameters could indicate early structural alterations. Diffusion tensor imaging measurements were obtained in 30 studies of 14 patients with X-linked adrenoleukodystrophy and were correlated with Loes scores. A control group including 28 male patients was created to establish agematched diffusion tensor imaging measurements. Inter- and intraobserver statistical analyses were undertaken. Diffusion tensor imaging measurements presented strong Pearson correlation coefficients (r) of -0.86, 0.89, 0.89 and 0.84 for fractional anisotropy and mean, radial and axial diffusivities (p tensor measurements at early stage of the disease indicates that mean and radial diffusivities might be useful to predict the disease progression. Measurements of diffusion tensor parameters can be used as an adjunct to the Loes score, aiding in the monitoring of the disease and alerting for possible Loes score progression in the range of interest for therapeutic decisions.

X-linked lethal infantile spinal muscular atrophy: From clinical description to molecular mapping

Energy Technology Data Exchange (ETDEWEB)

Baumbach, L.; Schiavi, A. [Univ. of Miami, FL (United States)] [and others

1994-09-01

The proximal spinal muscular atrophies (PSMA), one of the most common forms of lower motor neuron disease in children, are characterized by progressive muscle weakness due to loss of anterior horn cells. All three autosomal recessive forms have been mapped to chromosome 5q11.2-11.3, implying an allelic association between these disorders. Recent evidence from our laboratories, as well as others, suggests that a distinct form of lethal neonatal spinal muscular atrophy, associated with early onset contractures, is determined by a gene on the X chromosome. We report our efforts in mapping this disease locus. Our original studies have focused on two unrelated multigenerational families with similar clinical presentations of severe hypotonia, muscle weakness, and a disease course similar to Werdnig Hoffman except for the additional finding of congenital or early onset contractures. Muscle biopsy and/or autopsy were indicative of anterior horn cell loss in affected males. Disease occurrence in each of the families was consistent with an X-linked recessive mode of inheritance. Subsequently, two additional families have been identified, as well as several sporadic male cases. Linkage analysis has been completed in one of these families using highly polymorphic repeats dispersed 10 cM on the X chromosome. Interpretation of results was achieved using an automated data acquisition program. Analysis of over 300 haplotypes generated using PCR-based DNA markers have identified two 16 cM regions on Xp with complete concordance to the disease phenotype. Our currents efforts are focused on the region surrounding the Kallman gene, in attempts to better define a candidate region, as well as analyze possible candidate genes within this region.

Successful treatment with infliximab for inflammatory colitis in a patient with X-linked anhidrotic ectodermal dysplasia with immunodeficiency.

Science.gov (United States)

Mizukami, Tomoyuki; Obara, Megumi; Nishikomori, Ryuta; Kawai, Tomoki; Tahara, Yoshihiro; Sameshima, Naoki; Marutsuka, Kousuke; Nakase, Hiroshi; Kimura, Nobuhiro; Heike, Toshio; Nunoi, Hiroyuki

2012-02-01

X-linked anhidrotic ectodermal dysplasia with immunodeficiency (X-EDA-ID) is caused by hypomorphic mutations in the gene encoding nuclear factor-κB essential modulator protein (NEMO). Patients are susceptibile to diverse pathogens due to insufficient cytokine and frequently show severe chronic colitis. An 11-year-old boy with X-EDA-ID was hospitalized with autoimmune symptoms and severe chronic colitis which had been refractory to immunosuppressive drugs. Since tumor necrosis factor (TNF) α is responsible for the pathogenesis of NEMO colitis according to intestinal NEMO and additional TNFR1 knockout mice studies, and high levels of TNFα-producing mononuclear cells were detected in the patient due to the unexpected gene reversion mosaicism of NEMO, an anti-TNFα monoclonal antibody was administered to ameliorate his abdominal symptoms. Repeated administrations improved his colonoscopic findings as well as his dry skin along with a reduction of TNFα-expressing T cells. These findings suggest TNF blockade therapy is of value for refractory NEMO colitis with gene reversion.

Refined mapping and YAC contig construction of the X-linked cleft palate and ankyloglossia locus (CPX) including the proximal X-Y homology breakpoint within Xq21.3

Energy Technology Data Exchange (ETDEWEB)

Forbes, S.A.; Brennan, L.; Richardson, M. [Queen Charlotte`s Hospital, London (United Kingdom)] [and others

1996-01-01

The gene for X-linked cleft palate (CPX) has previously been mapped in an Icelandic kindred between the unordered proximal markers DXS1002/DXS349/DXS95 and the distal marker DXYS1X, which maps to the proximal end of the X-Y homology region in Xq21.3. Using six sequence-tagged sites (STSs) within the region, a total of 91 yeast artificial chromosome (YAC) clones were isolated and overlapped in a single contig that spans approximately 3.1 Mb between DXS1002 and DXYS1X. The order of microsatellite and STS markers in this was established as DXS1002-DXS1168-DXS349-DXS95-DXS364-DXS1196-DXS472-DXS1217-DXYS1X. A long-range restriction map of this region was created using eight nonchimeric, overlapping YAC clones. Analysis of newly positioned polymorphic markers in recombinant individuals from the Icelandic family has enabled us to identify DXS1196 and DXS1217 as the flanking markers for CPX. The maximum physical distance containing the CPX gene has been estimated to be 2.0 Mb, which is spanned by a minimum set of five nonchimeric YAC clones. In addition, YAC end clone and STS analyses have pinpointed the location of the proximal boundary of the X-Y homology region within the map. 40 refs., 2 figs., 2 tabs.

The Content Validity of Juvenile Psychopathy: An Empirical Examination

Science.gov (United States)

Lynam, Donald R.; Derefinko, Karen J.; Caspi, Avshalom; Loeber, Rolf; Stouthamer-Loeber, Magda

2007-01-01

This study examined the content validity of a juvenile psychopathy measure, the Childhood Psychopathy Scale (CPS; D. R. Lynam, 1997), based on a downward translation of an adult instrument, the Hare Psychopathy Checklist-Revised (PCL-R; R. D. Hare, 1991). The CPS was compared with two other indices of juvenile psychopathy: (a) an index derived…

Juvenile Dermatomyositis in a Nigerian Girl: a Case Report ...

African Journals Online (AJOL)

Juvenile Dermatomyositis in a Nigerian Girl: a Case Report. MG Mustapha, MG Ashir, AA Mayun, Y Machoco, AB Ibrahim. Abstract. A case of Juvenile dermatomyositis (JDM) in a 10 year old Nigerian girl is herein reported to discuss some of the features of the disease and challenges in management of such a rare but ...

Growth and Survival of Catfish ( Clarias anguillaris ) Juveniles Fed ...

African Journals Online (AJOL)

Juveniles of catfish, Clarias anguillaris (mean weight, 119.8g) were fed unconventional diets for ten weeks in outdoor hapas (net cages, 1m3 dimension) and the growth responses and feed utilization by the juveniles were compared. The experimental diets were (i) live maggots, (ii) live tilapia fry, (iii) commercial catfish feed ...

Dating Violence and Girls in the Juvenile Justice System

Science.gov (United States)

Kelly, Patricia J.; Cheng, An-Lin; Peralez-Dieckmann, Esther; Martinez, Elisabeth

2009-01-01

The purpose of this study is to explore the prevalence and associated behaviors of dating violence among a population of girls in the juvenile justice system. A sample of 590 girls from an urban juvenile justice system completed a questionnaire assessing attitudes and self-efficacy about and occurrence of dating violence. The analysis developed a…

Motivation, Prosocial and Antisocial Behaviors of Juveniles in Compare to Wellbehaved Peers

Directory of Open Access Journals (Sweden)

Hubert Kupiec

2013-12-01

Full Text Available The article contain results of research which participants were 104 juvenile delinquent and 294 adolescents from public schools. The statistic analyses show that juveniles have similar level of prosocial motivation as their well behaving peers from schools. However, gender is significant differentiation factor because girls have higher prosocial motivation and more frequently behave prosocially than boys in both compared groups. Juveniles exhibit less prosocial behavior than antisocial to relatives and friends, compared to their peers from schools, also. This paper include discussion of results and practical recommendations how we can develope motivation and prosocial behavior among juvenile delinquents.

Do burn centers provide juvenile firesetter intervention?

Science.gov (United States)

Ahrns-Klas, Karla S; Wahl, Wendy L; Hemmila, Mark R; Wang, Stewart C

2012-01-01

Juvenile firesetting activity accounts for a significant number of annual injuries and property damage, yet there is sparse information on intervention in the burn literature. To quantify juvenile firesetting intervention (JFSI) in burn centers, a 23-question survey was sent to all directors listed in the American Burn Association Burn Care Facilities Directory.Sixty-four out of 112 (57%) surveys were returned. This represents responses from 79% of currently verified burn centers. When queried on interventions provided to a juvenile firesetter admitted to their unit, 38% report having their own JFSI program and 38% refer the child to fire services. Two thirds of units without a JFSI program treat pediatric patients. Units that previously had a JFSI program report lack of staffing and funding as most common reasons for program discontinuation. Almost all (95%) stated that a visual tool demonstrating legal, financial, social, future, and career ramifications associated with juvenile firesetting would be beneficial to their unit. Many burn units that treat pediatric patients do not have JFSI and rely on external programs operated by fire services. Existing JFSI programs vary greatly in structure and method of delivery. Burn centers should be involved in JFSI, and most units would benefit from a new video toolkit to assist in providing appropriate JFSI. Study results highlight a need for burn centers to collaborate on evaluating effectiveness of JFSI programs and providing consistent intervention materials based on outcomes research.

MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta

Science.gov (United States)

Lindert, Uschi; Cabral, Wayne A.; Ausavarat, Surasawadee; Tongkobpetch, Siraprapa; Ludin, Katja; Barnes, Aileen M.; Yeetong, Patra; Weis, Maryann; Krabichler, Birgit; Srichomthong, Chalurmpon; Makareeva, Elena N.; Janecke, Andreas R.; Leikin, Sergey; Röthlisberger, Benno; Rohrbach, Marianne; Kennerknecht, Ingo; Eyre, David R.; Suphapeetiporn, Kanya; Giunta, Cecilia; Marini, Joan C.; Shotelersuk, Vorasuk

2016-01-01

Osteogenesis imperfecta (OI) is a collagen-related bone dysplasia. We identified an X-linked recessive form of OI caused by defects in MBTPS2, which encodes site-2 metalloprotease (S2P). MBTPS2 missense mutations in two independent kindreds with moderate/severe OI cause substitutions at highly conserved S2P residues. Mutant S2P has normal stability, but impaired functioning in regulated intramembrane proteolysis (RIP) of OASIS, ATF6 and SREBP transcription factors, consistent with decreased proband secretion of type I collagen. Further, hydroxylation of the collagen lysine residue (K87) critical for crosslinking is reduced in proband bone tissue, consistent with decreased lysyl hydroxylase 1 in proband osteoblasts. Reduced collagen crosslinks presumptively undermine bone strength. Also, proband osteoblasts have broadly defective differentiation. These mutations provide evidence that RIP plays a fundamental role in normal bone development. PMID:27380894

Sustained virologic response following HCV eradication in two brothers with X-linked agammaglobulinaemia.

LENUS (Irish Health Repository)

Houlihan, Diarmaid D

2009-08-21

X-linked agammaglobulinaemia (XLA) is a humoral immunodeficiency syndrome characterized from childhood by the absence of circulating B lymphocytes, absent or reduced levels of serum immunoglobulin and recurrent bacterial infections. For many affected patients, regular treatment with immunoglobulin is life saving. Hepatitis C viral (HCV) infection acquired through contaminated blood products is widely described in this patient cohort. The natural history of HCV infection in patients with XLA tends to follow a more rapid and aggressive course compared to immunocompetent individuals. Furthermore, standard anti-viral therapy appears to be less efficacious in this patient cohort. Here we report the cases of two brothers with XLA who contracted HCV through contaminated blood products. They were treated with a six month course of Interferon alpha-2b and Ribavirin. We report a sustained virologic response five years after completing treatment.

Central motor and sensory pathway involvement in an X-linked Charcot-Marie-Tooth family.

Science.gov (United States)

Zambelis, T; Panas, M; Kokotis, P; Karadima, G; Kararizou, E; Karandreas, N

2008-06-01

The aim of the present study was to investigate the subclinical involvement of the central nervous system (CNS) in an X-linked Charcot-Marie-Toth (CMTX) family. Seven subjects, all members of one family with a C.462T > G connexin 32 (Cx32) mutation were investigated by Blink reflex, Somatosensory evoked potentials (SEP) and Transcranial magnetic stimulation (TMS). There were five clinically symptomatic for CMT neuropathy (four male and one female) and two asymptomatic (female) subjects. Subclinical CNS involvement was observed in all, symptomatic and asymptomatic subjects. This is the largest CMTX neuropathy family investigated for CNS involvement. Electrophysiological involvement of the CNS in every examined member of this family was observed, raising the question of a more systematic involvement of the CNS in CMTX disease.

Coblation-assisted endonasal endoscopic resection of juvenile nasopharyngeal angiofibroma.

Science.gov (United States)

Ye, L; Zhou, X; Li, J; Jin, J

2011-09-01

Juvenile nasopharyngeal angiofibroma may be successfully resected using endoscopic techniques. However, the use of coblation technology for such resection has not been described. This study aimed to document cases of Fisch class I juvenile nasopharyngeal angiofibroma with limited nasopharyngeal and nasal cavity extension, which were completely resected using an endoscopic coblation technique. We retrospectively studied 23 patients with juvenile nasopharyngeal angiofibroma who underwent resection with either traditional endoscopic instruments (n = 12) or coblation (n = 11). Intra-operative blood loss and overall operative time were recorded. The mean tumour resection time for coblation and traditional endoscopic instruments was 87 and 136 minutes, respectively (t = 9.962, p angiofibroma (Fisch class I), with good surgical margins and minimal blood loss.

Linking air and water transport in intact soils to macropore characteristics inferred from X-ray computed tomography

DEFF Research Database (Denmark)

Katuwal, S.; Nørgaard, Trine; Møldrup, Per

2015-01-01

Soil macropores often control fluid flow and solute transport, and quantification of macropore characteristics including their variability in space and time are essential to predict soil hydraulic and hydrogeochemical functions. In this study, measurements of air and solute transport properties...... and direct macropore visualization by X-ray CT scanning were carried out on 17 large (19-cm diam.; 20-cm length) undisturbed soil columns sampled across a field site (Silstrup, Denmark) with natural gradients in texture and density. Air permeability (ka) at in-situ water content and -20 hPa of matric......-porosity, suggesting that density is the main control of functional soil structure and gas and solute transport at the Silstrup site. Linking gas transport and chemical tracer experiments with X-ray CT based visualization and quantification of macro-porosity was found to be a powerful method to understand field scale...

X-linked mental retardation with neonatal hypotonia in a French family (MRX15): Gene assignment to Xp11.22-Xp21.1

Energy Technology Data Exchange (ETDEWEB)

Raynaud, M.; Dessay, B.; Ayrault, A.D. [INSERM, Marseille (France)] [and others

1996-07-12

Linkage analysis was performed in a family with non-specific X-linked mental retardation (MRX 15). Hypotonia in infancy was the most remarkable physical manifestation. The severity of mental deficiency was variable among the patients, but all of them had poor or absent speech. Significant lod scores at a recombination fraction of zero were detected with the marker loci DXS1126, DXS255, and DXS573 (Zmax = 2.01) and recombination was observed with the two flanking loci DXS164 (Xp21.1) and DXS988 (Xp11.22), identifying a 17 cM interval. This result suggests a new gene localization in the proximal Xp region. In numerous families with non-specific X-linked mental retardation (MRX), the corresponding gene has been localized to the paracentromeric region in which a low recombination rate impairs the precision of mapping. 58 refs., 3 figs., 5 tabs.

A mutation in the receptor Methoprene-tolerant alters juvenile hormone response in insects and crustaceans.

Science.gov (United States)

Miyakawa, Hitoshi; Toyota, Kenji; Hirakawa, Ikumi; Ogino, Yukiko; Miyagawa, Shinichi; Oda, Shigeto; Tatarazako, Norihisa; Miura, Toru; Colbourne, John K; Iguchi, Taisen

2013-01-01

Juvenile hormone is an essential regulator of major developmental and life history events in arthropods. Most of the insects use juvenile hormone III as the innate juvenile hormone ligand. By contrast, crustaceans use methyl farnesoate. Despite this difference that is tied to their deep evolutionary divergence, the process of this ligand transition is unknown. Here we show that a single amino-acid substitution in the receptor Methoprene-tolerant has an important role during evolution of the arthropod juvenile hormone pathway. Microcrustacea Daphnia pulex and D. magna share a juvenile hormone signal transduction pathway with insects, involving Methoprene-tolerant and steroid receptor coactivator proteins that form a heterodimer in response to various juvenoids. Juvenile hormone-binding pockets of the orthologous genes differ by only two amino acids, yet a single substitution within Daphnia Met enhances the receptor's responsiveness to juvenile hormone III. These results indicate that this mutation within an ancestral insect lineage contributed to the evolution of a juvenile hormone III receptor system.

Effects of zebra mussels on food webs: Interactions with juvenile bluegill and water residence time

Science.gov (United States)

Richardson, W.B.; Bartsch, L.A.

1997-01-01

We evaluated how water residence time mediated the impact of zebra mussels Dreissena polymorpha and bluegill sunfish Lepomis macrochirus on experimental food webs established in 1100-1 outdoor mesocosms. Water residence time was manipulated as a surrogate for seston resupply - a critical variable affecting growth and survival of suspension-feeding invertebrates. We used a 2 x 2 x 2 factorial experimental design with eight treatment combinations (3 replicates/treatment) including the presence or absence of Dreissena (2000 per m2), juvenile bluegill (40 per mesocosm), and short (1100 1 per d) or long (220 1 per d) water residence time. Measures of seston concentration (chlorophyll a, turbidity and suspended solids) were greater in the short- compared to long water-residence mesocosms, but intermediate in short water-residence mesocosms containing Dreissena. Abundance of rotifers (Keratella and Polyarthra) was reduced in Dreissena mesocosms and elevated in short residence time mesocosms. Cladocera abundance, in general, was unaffected by the presence of Dreissena; densities were higher in short-residence time mesocosms, and reduced in the presence of Lepomis. The growth of juvenile Lepomis were unaffected by Dreissena because of abundant benthic food. The final total mass of Dreissena was significantly greater in short- than long-residence mesocosms. Impacts of Dreissena on planktonic food webs may not only depend on the density of zebra mussels but also on the residence time of the surrounding water and the resupply of seston. ?? 1997 Kluwer Academic Publishers.

Psychopathology and personality in juvenile sexual homicide offenders.

Science.gov (United States)

Myers, W C; Blashfield, R

1997-01-01

This project describes the psychopathology and personality findings in 14 juveniles who committed sexual homicide. These incarcerated youth were assessed using a structured interview, a personality assessment instrument, correctional files review, and an author-designed clinical interview. Nearly all of these youth met DSM-III-R conduct disorder criteria at the time of the crime. The presence of personality disorders and moderately high psychopathy scores at follow-up were common. Two-thirds of these youth reported the presence of violent sexual fantasies before their crimes. Weapons, most often knives, were used by these juvenile sexual murderers to kill known victims in a majority of the cases. They usually acted alone and selected a low risk victim. These findings suggest that juvenile sexual murderers are an emotionally and behaviorally disturbed population with identifiable psychopathology, personality disturbances, and criminal patterns.

Linkage analysis in a Dutch family with X-linked recessive congenital stationary night blindness (XL-CSNB).

Science.gov (United States)

Berger, W; van Duijnhoven, G; Pinckers, A; Smits, A; Ropers, H H; Cremers, F

1995-01-01

Linkage analysis has been performed in a large Dutch pedigree with X-linked recessive congenital stationary night blindness (CSNB) by utilizing 16 DNA markers from the proximal short arm of the human X chromosome (Xp21.1-11.2). Thirteen polymorphic markers are at least partially informative and have enabled pairwise and multipoint linkage analysis. For three loci, i.e. DXS228, the monoamine oxidase B gene and the Norrie disease gene (NDG), multipoint linkage studies have yielded maximum lod scores of > 3.0 at a recombination fraction of zero. Analysis of recombination events has enabled us to rule out the possibility that the underlying defect in this family is allelic to RP3; the gene defect could also be excluded from the proximal part of the region known to carry RP2. Linkage data are consistent with a possible involvement of the NDG but mutations in the open reading frame of this gene have not been found.

Fatores de risco associados à calcinose na dermatomiosite juvenil Risk factors associated with calcinosis of juvenile dermatomyositis

Directory of Open Access Journals (Sweden)

Adriana M. E. Sallum

2008-02-01

Full Text Available OBJETIVO: Identificar fatores de risco associados à calcinose em crianças e adolescentes com dermatomiosite juvenil. MÉTODOS: Prontuários de 54 pacientes com dermatomiosite juvenil foram estudados. Foram avaliados dados demográficos; características clínicas: grau de força muscular (I a V do Medical Research Council, presença de comprometimentos pulmonar (distúrbio ventilatório restritivo com presença ou ausência do anticorpo anti-Jo-1, gastrointestinal (refluxo gastroesofágico e cardíaco (pericardite e/ou miocardite; exames laboratoriais: elevação de enzimas musculares (creatinoquinase, aspartato aminotransferase, alanina aminotransferase e desidrogenase lática e terapias utilizadas: corticoterapia isolada ou associada à cloroquina e/ou imunossupressor. Os pacientes foram divididos em dois grupos de acordo com a presença ou ausência de calcinose e foram avaliados através de análise univariada e multivariada. RESULTADOS: Calcinose foi evidenciada em 23 (43% pacientes, sendo em seis (26% antes do diagnóstico e em 17 (74% após. A análise univariada revelou que comprometimentos cardíaco (p = 0,01 e pulmonar (p = 0,02 e necessidade da utilização de um ou mais imunossupressores (metotrexato, ciclosporina A e/ou pulsoterapia com ciclofosfamida endovenosa no tratamento da dermatomiosite juvenil (p = 0,03 foram associados com uma maior incidência de calcinose. A análise multivariada mostrou que comprometimento cardíaco (OR = 15,56; IC95% 1,59-152,2 e uso de um ou mais imunossupressores (OR = 4,01; IC95% 1,08-14,87 foram as únicas variáveis independentes associadas à presença de calcinose. CONCLUSÕES: O aparecimento da calcinose foi freqüente na dermatomiosite juvenil, habitualmente na evolução da doença. A calcinose foi associada aos casos mais graves, que apresentaram envolvimento cardíaco e necessitaram da utilização de imunossupressores no seu tratamento.OBJECTIVE: To identify risk factors associated with

A case of factor X deficiency in a Chihuahua dog.

Science.gov (United States)

Heuss, Jessica; Weatherton, Linda

2016-08-01

A juvenile Chihuahua dog developed hemoperitoneum after routine ovariohysterectomy. She was managed with packed red blood cell and fresh frozen plasma transfusions as well as an exploratory laparotomy to verify ligature sites. No recurrence of hemorrhage occurred. Factor X deficiency was diagnosed and confirmed with repeat analysis including during times of health.

JS-X syndrome: A multiple congenital malformation with vocal cord paralysis, ear deformity, hearing loss, shoulder musculature underdevelopment, and X-linked recessive inheritance.

Science.gov (United States)

Hoeve, Hans L J; Brooks, Alice S; Smit, Liesbeth S

2015-07-01

We report on a family with a not earlier described multiple congenital malformation. Several male family members suffer from laryngeal obstruction caused by bilateral vocal cord paralysis, outer and middle ear deformity with conductive and sensorineural hearing loss, facial dysmorphisms, and underdeveloped shoulder musculature. The affected female members only have middle ear deformity and hearing loss. The pedigree is suggestive of an X-linked recessive inheritance pattern. SNP-array revealed a deletion and duplication on Xq28 in the affected family members. A possible aetiology is a neurocristopathy with most symptoms expressed in structures derived from branchial arches. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

Statistical indicators and trends in juvenile delinquency in modern Russia

Directory of Open Access Journals (Sweden)

Yuzikhanova E.G.

2014-12-01

Full Text Available Statistics of juvenile delinquency in Russia for ten years, allowing to determine its current trends, is presented. It’s noted that earlier the proportion of juveniles among all criminals was about 11-12%. During the period from 2003 to 2013 the proportion of juveniles in the total number of identified offenders decreased to 6%. Despite the reduction in the number of crimes committed by this category of persons, for several years the largest criminal activity is maintained in the age group 16-17 years (70%. Smaller proportion is the age group 14-15 years, there’s a reduction in the number of committed crimes: from 49,300 in 2000 to 19,700 in 2013. Over the same period, the number of reported crimes committed by minors or with their complicity decreased almost three times. With all the ambiguity of attitude to the considered problem, the author defines the role of criminal law policy of the state in response to trends in juvenile crime taking into account its specificity, caused by the complex of interrelated factors related to age, social, psychological characteristics of juveniles as a special social group, the originality of their social status. The legislative novel is considered: the punishment in the form of arrest is not imposed on persons under the age of eighteen by the time of court verdict. It’s summarized that the problems of juvenile delinquency are only partly solved by the humanization of criminal law policy of the state in order to restore social justice, correct the convict and prevent new crimes commission.

Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa.

Science.gov (United States)

Booij, J C; Florijn, R J; ten Brink, J B; Loves, W; Meire, F; van Schooneveld, M J; de Jong, P T V M; Bergen, A A B

2005-11-01

To identify mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa. Mutation analysis was carried out in a group of 35 unrelated patients with juvenile autosomal recessive retinitis pigmentosa (ARRP), Leber's congenital amaurosis (LCA), or juvenile isolated retinitis pigmentosa (IRP), by denaturing high performance liquid chromatography followed by direct sequencing. All three groups of patients showed typical combinations of eye signs associated with retinitis pigmentosa: pale optic discs, narrow arterioles, pigmentary changes, and nystagmus. Mutations were found in 34% of in CRB1 (11%), GUCY2D (11%), RPE65 (6%), and RPGRIP1 (6%). Nine mutations are reported, including a new combination of two mutations in CRB1, and new mutations in GUCY2D and RPGRIP1. The new GUCY2D mutation (c.3283delC, p.Pro1069ArgfsX37) is the first pathological sequence change reported in the intracellular C-terminal domain of GUCY2D, and did not lead to the commonly associated LCA, but to a juvenile retinitis pigmentosa phenotype. The polymorphic nature of three previously described (pathological) sequence changes in AIPL1, CRB1, and RPGRIP1 was established. Seven new polymorphic changes, useful for further association studies, were found. New and previously described sequence changes were detected in retinitis pigmentosa in CRB1, GUCY2D, and RPGRIP1; and in LCA patients in CRB1, GUCY2D, and RPE65. These data, combined with previous reports, suggest that LCA and juvenile ARRP are closely related and belong to a continuous spectrum of juvenile retinitis pigmentosa.