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  1. Article: Corrigendum: Overgrowth Syndromes-Evaluation, Diagnosis, and Management.

    Manor, Joshua / Lalani, Seema R

    Frontiers in pediatrics

    2020  Volume 8, Page(s) 624141

    Abstract: This corrects the article DOI: 10.3389/fped.2020.574857.]. ...

    Abstract [This corrects the article DOI: 10.3389/fped.2020.574857.].
    Language English
    Publishing date 2020-12-23
    Publishing country Switzerland
    Document type Published Erratum
    ZDB-ID 2711999-3
    ISSN 2296-2360
    ISSN 2296-2360
    DOI 10.3389/fped.2020.624141
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article: Overgrowth Syndromes-Evaluation, Diagnosis, and Management.

    Manor, Joshua / Lalani, Seema R

    Frontiers in pediatrics

    2020  Volume 8, Page(s) 574857

    Abstract: Abnormally excessive growth results from perturbation of a complex interplay of genetic, epigenetic, and hormonal factors that orchestrate human growth. Overgrowth syndromes generally present with inherent health concerns and, in some instances, an ... ...

    Abstract Abnormally excessive growth results from perturbation of a complex interplay of genetic, epigenetic, and hormonal factors that orchestrate human growth. Overgrowth syndromes generally present with inherent health concerns and, in some instances, an increased risk of tumor predisposition that necessitate prompt diagnosis and appropriate referral. In this review, we introduce some of the more common overgrowth syndromes, along with their molecular mechanisms, diagnostics, and medical complications for improved recognition and management of patients affected with these disorders.
    Language English
    Publishing date 2020-10-30
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2711999-3
    ISSN 2296-2360
    ISSN 2296-2360
    DOI 10.3389/fped.2020.574857
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: ABCD1 and X-linked adrenoleukodystrophy: A disease with a markedly variable phenotype showing conserved neurobiology in animal models.

    Manor, Joshua / Chung, Hyunglok / Bhagwat, Pranjali K / Wangler, Michael F

    Journal of neuroscience research

    2021  Volume 99, Issue 12, Page(s) 3170–3181

    Abstract: X-linked adrenoleukodystrophy (X-ALD) is a phenotypically heterogeneous disorder involving defective peroxisomal β-oxidation of very long-chain fatty acids (VLCFAs), due to mutation in the ABCD1 gene. X-ALD is the most common peroxisomal inborn error of ... ...

    Abstract X-linked adrenoleukodystrophy (X-ALD) is a phenotypically heterogeneous disorder involving defective peroxisomal β-oxidation of very long-chain fatty acids (VLCFAs), due to mutation in the ABCD1 gene. X-ALD is the most common peroxisomal inborn error of metabolism and confers a high degree of morbidity and mortality. Remarkably, a subset of patients exhibit a cerebral form with inflammatory invasion of the central nervous system and extensive demyelination, while in others only dying-back axonopathy or even isolated adrenal insufficiency is seen, without genotype-phenotype correlation. X-ALD's biochemical signature is marked elevation of VLCFAs in blood, a finding that has been utilized for massive newborn screening for early diagnosis. Investigational gene therapy approaches hold promises for improved outcomes. However, the pathophysiological mechanisms of the disease remain poorly understood, limiting investigation of targeted therapeutic options. Animal models for the disease recapitulate the biochemical signature of VLCFA accumulation and demonstrate mitochondrially generated reactive oxygen species, oxidative damage, increased glial death, and axonal damage. Most strikingly, however, cerebral invasion of leukocytes and demyelination were not observed in any animal model for X-ALD, reflecting upon pathological processes that are yet to be discovered. This review summarizes the current disease models in animals, the lessons learned from these models, and the gaps that remained to be filled in order to assist in therapeutic investigations for ALD.
    MeSH term(s) ATP Binding Cassette Transporter, Subfamily D, Member 1/genetics ; ATP-Binding Cassette Transporters/genetics ; ATP-Binding Cassette Transporters/metabolism ; Adrenoleukodystrophy/genetics ; Adrenoleukodystrophy/metabolism ; Adrenoleukodystrophy/pathology ; Animals ; Disease Models, Animal ; Fatty Acids/metabolism ; Humans ; Neurobiology ; Phenotype
    Chemical Substances ABCD1 protein, human ; ATP Binding Cassette Transporter, Subfamily D, Member 1 ; ATP-Binding Cassette Transporters ; Fatty Acids
    Language English
    Publishing date 2021-10-29
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 195324-2
    ISSN 1097-4547 ; 0360-4012
    ISSN (online) 1097-4547
    ISSN 0360-4012
    DOI 10.1002/jnr.24953
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Book ; Online: Rethinking Third-World Politics

    Manor, James

    2014  

    Abstract: Providing a thorough reassessment of our understanding of politics in Third World societies, this book contains some of the liveliest and most original analyses to have been published in recent years. The severity of the political and economic crisis ... ...

    Abstract Providing a thorough reassessment of our understanding of politics in Third World societies, this book contains some of the liveliest and most original analyses to have been published in recent years. The severity of the political and economic crisis throughout Africa, Asia and Latin America in the 1980s has highlighted the inadequacy of existing political science theories and the urgent need to provide new paradigms for the 1990s.


    Language English
    Size Online-Ressource (294 p)
    Publisher Taylor and Francis
    Publishing place Hoboken
    Document type Book ; Online
    Note Description based upon print version of record
    ISBN 9780582074583 ; 0582074584
    Database Library catalogue of the German National Library of Science and Technology (TIB), Hannover

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  5. Article ; Online: Heteroplasmic pathogenic m.12315G>A variant in MT-TL2 presenting with MELAS syndrome and depletion of nitric oxide donors.

    Snyder, Matthew T / Manor, Joshua / Gijavanekar, Charul / Mizerik, Elizabeth / Kralik, Stephen F / Elsea, Sarah H / Machol, Keren / Emrick, Lisa / Scaglia, Fernando

    American journal of medical genetics. Part A

    2023  Volume 194, Issue 3, Page(s) e63461

    Abstract: The MT-TL2 m.12315G>A pathogenic variant has previously been reported in five individuals with mild clinical phenotypes. Herein we report the case of a 5-year-old child with heteroplasmy for this variant who developed neurological regression and stroke- ... ...

    Abstract The MT-TL2 m.12315G>A pathogenic variant has previously been reported in five individuals with mild clinical phenotypes. Herein we report the case of a 5-year-old child with heteroplasmy for this variant who developed neurological regression and stroke-like episodes similar to those observed in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). Biochemical evaluation revealed depletion of arginine on plasma amino acid analysis and low z-scores for citrulline on untargeted plasma metabolomics analysis. These findings suggested that decreased availability of nitric oxide may have contributed to the stroke-like episodes. The use of intravenous arginine during stroke-like episodes and daily enteral L-citrulline supplementation normalized her biochemical values of arginine and citrulline. Untargeted plasma metabolomics showed the absence of nicotinamide and 1-methylnicotinamide, and plasma total glutathione levels were low; thus, nicotinamide riboside and N-acetylcysteine therapies were initiated. This report expands the phenotype associated with the rare mitochondrial variant MT-TL2 m.12315G>A to include neurological regression and a MELAS-like phenotype. Individuals with this variant should undergo in-depth biochemical analysis to include untargeted plasma metabolomics, plasma amino acids, and glutathione levels to help guide a targeted approach to treatment.
    MeSH term(s) Child, Preschool ; Female ; Humans ; Acidosis, Lactic ; Arginine/genetics ; Citrulline ; Glutathione/metabolism ; MELAS Syndrome/diagnosis ; MELAS Syndrome/genetics ; MELAS Syndrome/complications ; Mitochondrial Encephalomyopathies ; Nitric Oxide Donors/metabolism ; Stroke/complications ; Stroke/drug therapy
    Chemical Substances Arginine (94ZLA3W45F) ; Citrulline (29VT07BGDA) ; Glutathione (GAN16C9B8O) ; Nitric Oxide Donors
    Language English
    Publishing date 2023-11-12
    Publishing country United States
    Document type Case Reports
    ZDB-ID 2108614-X
    ISSN 1552-4833 ; 0148-7299 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 0148-7299 ; 1552-4825
    DOI 10.1002/ajmg.a.63461
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Complex Regional Pain Syndrome: Evidence-Based Advances in Concepts and Treatments.

    Limerick, Gerard / Christo, Dana K / Tram, Jennifer / Moheimani, Roya / Manor, John / Chakravarthy, Krishnan / Karri, Jay / Christo, Paul J

    Current pain and headache reports

    2023  Volume 27, Issue 9, Page(s) 269–298

    Abstract: Purpose of review: This review presents the most current information about the epidemiology of complex regional pain syndrome (CRPS), classification and diagnostic criteria, childhood CRPS, subtypes, pathophysiology, conventional and less conventional ... ...

    Abstract Purpose of review: This review presents the most current information about the epidemiology of complex regional pain syndrome (CRPS), classification and diagnostic criteria, childhood CRPS, subtypes, pathophysiology, conventional and less conventional treatments, and preventive strategies.
    Recent findings: CRPS is a painful disorder with multifactorial pathophysiology. The data describe sensitization of the central and peripheral nervous systems, inflammation, possible genetic factors, sympatho-afferent coupling, autoimmunity, and mental health factors as contributors to the syndrome. In addition to conventional subtypes (type I and type II), cluster analyses have uncovered other proposed subtypes. Prevalence of CRPS is approximately 1.2%, female gender is consistently associated with a higher risk of development, and substantial physical, emotional, and financial costs can result from the syndrome. Children with CRPS seem to benefit from multifaceted physical therapy leading to a high percentage of symptom-free patients. The best available evidence along with standard clinical practice supports pharmacological agents, physical and occupational therapy, sympathetic blocks for engaging physical restoration, steroids for acute CRPS, neuromodulation, ketamine, and intrathecal baclofen as therapeutic approaches. There are many emerging treatments that can be considered as a part of individualized, patient-centered care. Vitamin C may be preventive. CRPS can lead to progressively painful sensory and vascular changes, edema, limb weakness, and trophic disturbances, all of which substantially erode healthy living. Despite some progress in research, more comprehensive basic science investigation is needed to clarify the molecular mechanisms of the disease so that targeted treatments can be developed for better outcomes. Incorporating a variety of standard therapies with different modes of action may offer the most effective analgesia. Introducing less conventional approaches may also be helpful when traditional treatments fail to provide sufficient improvement.
    MeSH term(s) Child ; Humans ; Female ; Male ; Complex Regional Pain Syndromes/diagnosis ; Complex Regional Pain Syndromes/epidemiology ; Complex Regional Pain Syndromes/therapy ; Pain Management ; Ketamine/therapeutic use ; Peripheral Nervous System ; Pain Measurement
    Chemical Substances Ketamine (690G0D6V8H)
    Language English
    Publishing date 2023-07-08
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 2055062-5
    ISSN 1534-3081 ; 1531-3433
    ISSN (online) 1534-3081
    ISSN 1531-3433
    DOI 10.1007/s11916-023-01130-5
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article: Evaluation of Earbud and Wristwatch Heart Rate Monitors during Aerobic and Resistance Training.

    Bunn, Jennifer / Wells, Elizabeth / Manor, John / Webster, Michael

    International journal of exercise science

    2019  Volume 12, Issue 4, Page(s) 374–384

    Abstract: Assessment of biometrics during exercise is evolving to create devices that are "all-inclusive", in an effort to decrease the number of devices required during exercise while providing comprehensive and accurate biometric measures. The purpose of this ... ...

    Abstract Assessment of biometrics during exercise is evolving to create devices that are "all-inclusive", in an effort to decrease the number of devices required during exercise while providing comprehensive and accurate biometric measures. The purpose of this study was to determine the accuracy of two optical heart rate monitors, the Jabra earbud and the Mio Alpha wristwatch, during aerobic and anaerobic exercise. Twenty-two recreationally active participants (25.4 ± 6.9 years, 171 ± 11 cm, 73.9 ± 3.1 kg, and 25.2 ± 9.2% body fat) completed this study. Participants completed 30 minutes of treadmill activity, 25 minutes of high-intensity interval exercise (HIT), and 40 minutes of continuous outdoor activity of their choice, walking or running. Three heart rate (HR) monitors, (Polar chest strap, Mio Alpha, Jabra earbud) were worn during all exercises, with the Polar chest strap serving as the benchmark. HR was assessed in one-second intervals. Analyses included mean bias, mean absolute percent error (MAPE), and Lin's concordance coefficient. Overall, the Mio Alpha had a MAPE of 5.73 ± 10.19% and a moderate correlation with the benchmark, r(c) = 0.771, performing better in the treadmill and outdoor conditions. The Jabra earbud had a MAPE of 3.14 ± 6.13%, and a high correlation with the benchmark, r(c) = 0.939, performing well in all three conditions. Placing a HR monitor in an earbud is a viable option for obtaining an accurate HR assessment during different types of exercise. The accuracy of the Mio Alpha was likely affected by wrist movements during the HIT training.
    Language English
    Publishing date 2019-03-01
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2411342-6
    ISSN 1939-795X
    ISSN 1939-795X
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: Clinical variability in multifocal lymphangioendotheliomatosis with thrombocytopenia: a review of the literature.

    Manor, Joshua / Patel, Kalyani / Iacobas, Ionela / Margolin, Judith F / Mahajan, Priya

    Pediatric hematology and oncology

    2021  Volume 38, Issue 4, Page(s) 367–377

    Abstract: Multifocal lymphangioendotheliomatosis with thrombocytopenia (MLT) is a recently recognized disorder characterized by vascular lesions marked by distinct endothelial proliferation. Lesions affect multiple tissues, and MLT can be associated with ... ...

    Abstract Multifocal lymphangioendotheliomatosis with thrombocytopenia (MLT) is a recently recognized disorder characterized by vascular lesions marked by distinct endothelial proliferation. Lesions affect multiple tissues, and MLT can be associated with refractory thrombocytopenia resulting in life-threatening bleeding. Diagnosing MLT may be challenging given its rarity and phenotypic variability. There is no consensus on the optimal management or treatment duration. We report a 4-month-old male who presented with multiple vascular malformations involving the gastrointestinal tract, lung, bones, choroid plexus, and spleen, with minimal cutaneous involvement and no thrombocytopenia. Wedge resection of a pulmonary nodule was strongly positive for lymphatic vessel endothelial hyaluronan receptor 1 favoring MLT despite the lack of thrombocytopenia. The patient's clinical symptoms and vascular lesions improved on sirolimus therapy. We review the literature to highlight the clinical variability of MLT and discuss the diagnostic and therapeutic options for MLT.
    MeSH term(s) Angiomatosis/complications ; Angiomatosis/drug therapy ; Angiomatosis/pathology ; Endothelium, Lymphatic/drug effects ; Endothelium, Lymphatic/pathology ; Humans ; Immunosuppressive Agents/therapeutic use ; Infant ; Lymphatic Vessels/drug effects ; Lymphatic Vessels/pathology ; Male ; Sirolimus/therapeutic use ; Thrombocytopenia/complications ; Thrombocytopenia/drug therapy ; Thrombocytopenia/pathology
    Chemical Substances Immunosuppressive Agents ; Sirolimus (W36ZG6FT64)
    Language English
    Publishing date 2021-02-27
    Publishing country England
    Document type Case Reports ; Journal Article ; Review
    ZDB-ID 632914-7
    ISSN 1521-0669 ; 0888-0018
    ISSN (online) 1521-0669
    ISSN 0888-0018
    DOI 10.1080/08880018.2020.1871135
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: A rare description of pure partial trisomy of 16q12.2q24.3 and review of the literature.

    Manor, Joshua / Dinu, Daniela / Azamian, Mahshid S / Bi, Weimin / Darilek, Sandra / Lalani, Seema R

    American journal of medical genetics. Part A

    2021  Volume 185, Issue 10, Page(s) 2903–2912

    Abstract: Trisomy 16 is the most common autosomal trisomy in humans, which is almost uniformly embryonic lethal. Partial trisomy 16 including a segment of the long arm of chromosome 16 is occasionally compatible with life and has been associated with severe ... ...

    Abstract Trisomy 16 is the most common autosomal trisomy in humans, which is almost uniformly embryonic lethal. Partial trisomy 16 including a segment of the long arm of chromosome 16 is occasionally compatible with life and has been associated with severe congenital defects, growth retardation, and early lethality. Segmental trisomy of 16q is usually described concomitantly with partial monosomy of another chromosome, often resulting from a parental balanced translocation. Pure partial chromosome 16q trisomy is exceedingly rare. About nine children with 16q12→qter and 16q13→qter duplication have been reported in the literature, almost all described with monosomy of a second chromosome, and highlighting very few long-term survivors. A single individual with pure partial distal 16q12.1q23.3 duplication has been reported in an infant, underscoring complexities of genetic counseling and management, especially in view of life-limiting congenital anomalies in rare survivors. Here, we present a 12-month-old child with pure 16q12.2q24.3 trisomy, having continued morbidity related to pulmonary hypertension and chronic lung disease. The features of intrauterine growth retardation, facial dysmorphism, hypotonia, congenital heart defect, distal contractures, urogenital abnormalities, and hearing loss support the association with 16q partial trisomy, as in previous studies. This report expands our current understanding related to the survival of infants with large segmental aneusomy of the long arm of chromosome 16.
    MeSH term(s) Child ; Chromosomes, Human, Pair 16/genetics ; Congenital Abnormalities/genetics ; Congenital Abnormalities/pathology ; Heart Defects, Congenital/genetics ; Heart Defects, Congenital/pathology ; Humans ; Hypertension, Pulmonary/complications ; Hypertension, Pulmonary/genetics ; Hypertension, Pulmonary/pathology ; Infant ; Karyotyping ; Lung Diseases/complications ; Lung Diseases/genetics ; Lung Diseases/pathology ; Male ; Mosaicism ; Translocation, Genetic ; Trisomy/genetics ; Trisomy/pathology
    Language English
    Publishing date 2021-06-01
    Publishing country United States
    Document type Case Reports ; Journal Article ; Research Support, N.I.H., Extramural
    ZDB-ID 2108614-X
    ISSN 1552-4833 ; 0148-7299 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 0148-7299 ; 1552-4825
    DOI 10.1002/ajmg.a.62368
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article ; Online: Validity and Reliability of Jump Height Measurements Obtained From Nonathletic Populations With the VERT Device.

    Manor, John / Bunn, Jennifer / Bohannon, Richard W

    Journal of geriatric physical therapy (2001)

    2018  Volume 43, Issue 1, Page(s) 20–23

    Abstract: Background and purpose: Vertical jump (VJ) is commonly used to assess lower extremity power in athletic populations. A portable device called the VERT has been validated for this population, but not in nonathletic populations. We sought in this study to ...

    Abstract Background and purpose: Vertical jump (VJ) is commonly used to assess lower extremity power in athletic populations. A portable device called the VERT has been validated for this population, but not in nonathletic populations. We sought in this study to assess the clinimetric properties of VJ height measurements obtained with the VERT from older and younger nonathletes.
    Methods: Twenty-eight participants (14 older, 14 younger, evenly split between male and female) completed 2 submaximal and 3 maximal VJ trials wearing the VERT during 2 sessions separated by 5 to 9 days. During the first session, their VJ heights were also monitored using motion capture video.
    Results: Analysis revealed concurrent validity of the VERT against motion capture (intraclass correlation coefficient [ICC3,1] = 0.826-0.950) and known-groups validity of the VERT based on age and gender (P < .001). Strong parallel reliability against a second VERT device (ICC = 0.992) was demonstrated as was strong test-retest reliability (ICC = 0.968).
    Conclusions: The VERT device provides valid and reliable measures of VJ height in nonathletic populations, including older adults. However, the VERT may not be suitable for recording the low jump heights of some older adults.
    MeSH term(s) Adult ; Aged ; Exercise Test/instrumentation ; Female ; Humans ; Lower Extremity/physiology ; Male ; Middle Aged ; Movement ; Reproducibility of Results ; Young Adult
    Language English
    Publishing date 2018-07-16
    Publishing country United States
    Document type Journal Article ; Validation Study
    ZDB-ID 2250801-6
    ISSN 2152-0895 ; 1539-8412
    ISSN (online) 2152-0895
    ISSN 1539-8412
    DOI 10.1519/JPT.0000000000000205
    Database MEDical Literature Analysis and Retrieval System OnLINE

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