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Schwartz Jampel Syndrome

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Perlecan/Hspg2 deficiency impairs bone's calcium signaling and associated transcriptome in response to mechanical loading.

Shaopeng Pei, Sucharitha Parthasarathy, Ashutosh Parajuli, Jerahme Martinez, Mengxi Lv, Sida Jiang, Danielle Wu, Shuo Wei, X Lucas Lu, Mary C Farach-Carson, Catherine B Kirn-Safran, Liyun Wang,

Perlecan, a heparan sulfate proteoglycan, acts as a mechanical sensor for bone to detect external loading. Deficiency of perlecan increases the risk of osteoporosis in patients with Schwartz-Jampel Syndrome (SJS) and attenuates loading-induced bone formation in perlecan deficient mice (Hypo). Considering that intracellular calcium [Ca2+]i is an ubiquitous messenger controlling ... Read more >>

Bone (Bone)
[2020, 131:115078]

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Comment on "Schwartz-Jampel syndrome: Is risk of malignant hyperthermia the same as that of the general population?"

Godai Kohei,

Saudi J Anaesth (Saudi journal of anaesthesia)
[2019, 13(2):147-148]

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Schwartz-Jampel Syndrome Mimicking Myotonia Congenita.

Hansashree Padmanabha, Thomas Mathew, T Manjusha,

Neurol India (Neurology India)
[2019, 67(4):1160-1162]

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Trabecular Bone Deficit and Enhanced Anabolic Response to Re-Ambulation after Disuse in Perlecan-Deficient Skeleton.

Ashutosh Parajuli, Shaopeng Pei, Hongbo Zhao, Jerahme R Martinez, X Lucas Lu, X Sherry Liu, Mary C Farach-Carson, Catherine B Kirn-Safran, Liyun Wang,

Perlecan/Hspg2, a large monomeric heparan sulfate proteoglycan, is found in the basement membrane and extracellular matrix, where it acts as a matrix scaffold, growth factor depot, and tissue barrier. Perlecan deficiency leads to skeletal dysplasia in Schwartz-Jampel Syndrome (SJS) and is a risk factor for osteoporosis. In the SJS-mimicking murine ... Read more >>

Biomolecules (Biomolecules)
[2020, 10(2):]

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Schwartz Jampel syndrome responding positively to carbamazepine therapy: a case report and a novel mutation.

Gürkan Gürbüz, Hatice Mutlu Albayrak,

Gürbüz G, Mutlu Albayrak H. Schwartz Jampel syndrome responding positively to carbamazepine therapy: a case report and a novel mutation. Turk J Pediatr 2019; 61: 967-970. Schwartz Jampel syndrome was first described in 1962. It is an autosomal recessive disease with generalized myotonic myopathy and skeletal dysplasia. A mutation in ... Read more >>

Turk. J. Pediatr. (The Turkish journal of pediatrics)
[2019, 61(6):967-970]

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Myotonic Myopathy With Secondary Joint and Skeletal Anomalies From the c.2386C>G, p.L769V Mutation in SCN4A.

Nathaniel Elia, Trystan Nault, Hugh J McMillan, Gail E Graham, Lijia Huang, Stephen C Cannon,

The phenotypic spectrum associated with the skeletal muscle voltage-gated sodium channel gene (SCN4A) has expanded with advancements in genetic testing. Autosomal dominant SCN4A mutations were first linked to hyperkalemic periodic paralysis, then subsequently included paramyotonia congenita, several variants of myotonia, and finally hypokalemic periodic paralysis. Biallelic recessive mutations were later ... Read more >>

Front Neurol (Frontiers in Neurology)
[2020, 11:77]

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Schwartz-Jampel syndrome: Is risk of malignant hyperthermia the same as that of the general population?

Michael Olusegun Ayeko,

Saudi J Anaesth (Saudi journal of anaesthesia)
[2018, 12(3):498-499]

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Herculean Boy With Facial Myokymia.

Indar Kumar Sharawat, Ananthanarayanan Kasinathan, Renu Suthar, Naveen Sankhyan,

Pediatr. Neurol. (Pediatric neurology)
[2019, 96:79-80]

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Novel HSPG2 mutations causing Schwartz‑Jampel syndrome type 1 in a Chinese family: A case report.

Wenjin Yan, Jin Dai, Dongquan Shi, Xingquan Xu, Xiao Han, Zhihong Xu, Dongyang Chen, Huajiang Teng, Qing Jiang,

Schwartz-Jampel syndrome type 1 (SJS1) is a rare autosomal recessive disease caused by mutations in the gene heparan sulfate proteoglycan 2 (HSPG2; also known as basement membrane‑specific heparin sulfate). In the present study, a 10‑year‑old female SJS1 proband from a Chinese family, who was diagnosed by X‑ray and physical examination, ... Read more >>

Mol Med Rep (Molecular Medicine Reports)
[2018, 18(2):1761-1765]

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Stiffness, Facial Dysmorphism, and Skeletal Abnormalities: Schwartz-Jampel Syndrome 1A.

Hansashree Padmanabha, Renu Suthar, Naveen Sankhyan, Pratibha Singhi,

J. Pediatr. (The Journal of pediatrics)
[2018, 200:286-286.e1]

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Orthodontic management of a patient with Schwartz-Jampel Syndrome.

Naif A Bindayel,

The orthodontic diagnosis and comprehensive management of a 12.5-year-old Saudi girl, diagnosed with Schwartz-Jampel Syndrome (SJS) is presented. SJS is a rare autosomal recessive disorder that affects musculoskeletal structures of the body with clinical manifestations in the maxillofacial region. While few reports in the literature have discussed the dental aspects ... Read more >>

Pak J Med Sci (Pakistan journal of medical sciences)
[2018, 34(2):501-504]

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The evolving therapeutic landscape of genetic skeletal disorders.

Ataf Hussain Sabir, Trevor Cole,

BACKGROUND:Rare bone diseases account for 5% of all birth defects yet very few have personalised treatments. Developments in genetic diagnosis, molecular techniques and treatment technologies however, are leading to unparalleled therapeutic advance. This review explores the evolving therapeutic landscape of genetic skeletal disorders (GSDs); the key conditions and there key ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2019, 14(1):300]

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Long-term follow-up of a Schwartz-Jampel syndrome case.

Włodzisław Kuliński, Mateusz Burak, Agata Michalska,

Schwartz-Jampel syndrome (SJS) is a rare genetic disorder characterised by myotonia and bone dysplasia. It is inherited as an autosomal recessive trait and caused by mutations in the perlecan-encoding gene HSPG2. Its symptoms include muscular stiffness and hypertrophy. The aim of the study was to analyse the clinical presentation as ... Read more >>

Wiad. Lek. (Wiadomosci lekarskie (Warsaw, Poland : 1960))
[2018, 71(7):1429-1432]

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A successful anesthetic approach in a patient with Schwartz-Jampel syndrome.

Fernando Calado de Oliveira Camacho, Tânia Marina Lopes Amaral, Joana Irene de Barros Mourão,

Schwartz-Jampel syndrome (SJS) is a rare genetic condition that is characterized by several musculoskeletal abnormalities, such as myotonia, joint contractures, and facial dysmorphisms. Patients with this syndrome can present an anesthetic challenge, due to an increased risk of developing malignant hyperthermia (MH) and the possibility of encountering a difficult airway. ... Read more >>

Saudi J Anaesth (Saudi journal of anaesthesia)
[2018, 12(1):128-130]

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Rare variant of HSPG2 is not involved in the development of adolescent idiopathic scoliosis: evidence from a large-scale replication study.

Chao Xia, Leilei Xu, Bingchuan Xue, Fei Sheng, Yong Qiu, Zezhang Zhu,

BACKGROUND:Rare variants of HSPG2 have recently been reported to function as a potential contributor to the susceptibility of adolescent idiopathic scoliosis (AIS) in the Caucasians. A replication study in the different population is warranted to validate the role of HSPG2 in AIS. The aim of this study was to determine ... Read more >>

BMC Musculoskelet Disord (BMC musculoskeletal disorders)
[2019, 20(1):24]

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Type XVIII Collagen Modulates Keratohyalin Granule Formation and Keratinization in Oral Mucosa.

Ha Thi Thu Nguyen, Mitsuaki Ono, Emilio Satoshi Hara, Taishi Komori, Midori Edamatsu, Tomoko Yonezawa, Aya Kimura-Ono, Kenji Maekawa, Takuo Kuboki, Toshitaka Oohashi,

Epithelial keratinization involves complex cellular modifications that provide protection against pathogens and chemical and mechanical injuries. In the oral cavity, keratinized mucosa is also crucial to maintain healthy periodontal or peri-implant tissues. In this study, we investigated the roles of type XVIII collagen, a collagen-glycosaminoglycan featuring an extracellular matrix component ... Read more >>

Int J Mol Sci (International journal of molecular sciences)
[2019, 20(19):]

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Review of Alterations in Perlecan-Associated Vascular Risk Factors in Dementia.

Amanda L Trout, Ibolya Rutkai, Ifechukwude J Biose, Gregory J Bix,

Perlecan is a heparan sulfate proteoglycan protein in the extracellular matrix that structurally and biochemically supports the cerebrovasculature by dynamically responding to changes in cerebral blood flow. These changes in perlecan expression seem to be contradictory, ranging from neuroprotective and angiogenic to thrombotic and linked to lipid retention. This review ... Read more >>

Int J Mol Sci (International journal of molecular sciences)
[2020, 21(2):]

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Schwartz-Jampel syndrome is not related to malignant hyperthermia.

Kohei Godai,

Schwartz-Jampel syndrome (SJS) is a rare syndrome that is clinically characterized by myotonia and skeletal abnormalities. Most reports regarding SJS have stated that patients with SJS are susceptible to malignant hyperthermia (MH). The statement is incorrect. There is no report showing that SJS is related to MH. Scientific evidence also ... Read more >>

JA Clin Rep (JA clinical reports)
[2017, 3(1):32]

Cited: 2 times

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Treatment of Blepharospasm in Schwartz-Jampel Syndrome: Botulinum Toxin A Injection or Surgery.

Mohsen Bahmani Kashkouli, Sahab Shahrzad, Anis Alsadat Jazayeri, Mohammad Bagher Abtahi,

Schwartz-Jampel syndrome is an autosomal recessive disease that comprises facial and musculoskeletal deformity. Hereby, the authors report 2 cases of Schwartz-Jampel syndrome and surgical method of their management. The first case was a boy who was result of twin delivery whose sibling was completely normal. The second case was a ... Read more >>

Ophthalmic Plast Reconstr Surg (Ophthalmic plastic and reconstructive surgery)
[2017, 33(3S Suppl 1):S47-S49]

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Freeman-Burian syndrome.

Mikaela I Poling, Craig R Dufresne, Robert L Chamberlain,

CLINICAL DESCRIPTION:Freeman-Burian syndrome (FBS) is a rare congenital myopathic craniofacial syndrome. Considerable variability in severity is seen, but diagnosis requires the following: microstomia, whistling-face appearance (pursed lips), H or V-shaped chin defect, and prominent nasolabial folds. Some patients do not have limb malformations, but essentially all do, typically camptodactyly with ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2019, 14(1):14]

Cited: 1 time

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Botulinum toxin type A in the treatment of facial myotonia in Schwartz-Jampel syndrome.

Igor Dórea Bandeira, João Gabriel Jagersbacher, Thiago Lima Barretto, Camilo Vieira Santos, Rita Lucena,

Muscle Nerve (Muscle & nerve)
[2017, 56(2):E10-E11]

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Early infantile-onset epileptic encephalopathy 28 due to a homozygous microdeletion involving the WWOX gene in a region of uniparental disomy.

Mariska Davids, Thomas Markello, Lynne A Wolfe, Xenia Chepa-Lotrea, Cynthia J Tifft, William A Gahl, May Christine V Malicdan,

The genetic etiologies of many rare disorders, including early infantile epileptic encephalopathies, are largely undiagnosed. A 6-year-old girl was admitted to the National Institutes of Health Undiagnosed Diseases Program with profound intellectual disability, infantile-onset seizures, chronic respiratory failure, facial dysmorphisms, skeletal abnormalities, and atrial septum defect. A large region of ... Read more >>

Hum. Mutat. (Human mutation)
[2019, 40(1):42-47]

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Myotonia permanens with Nav1.4-G1306E displays varied phenotypes during course of life.

Frank Lehmann-Horn, Adele D'Amico, Enrico Bertini, Mauro Lomonaco, Luciano Merlini, Kevin R Nelson, Heike Philippi, Gabriele Siciliano, Frank Spaans, Karin Jurkat-Rott,

Introduction:Myotonia permanens due to Nav1.4-G1306E is a rare sodium channelopathy with potentially life-threatening respiratory complications. Our goal was to study phenotypic variability throughout life. Methods:Clinical neurophysiology and genetic analysis were performed. Using existing functional expression data we determined the sodium window by integration. Results:In 10 unrelated patients who were believed ... Read more >>

Acta Myol (Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology)
[2017, 36(3):125-134]

Cited: 1 time

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Successful airway management using a MultiViewScope handle with a stylet scope in a patient with Schwartz-Jampel syndrome.

Keika Mukaihara, Kohei Godai, Tomotsugu Yamada, Maiko Hasegawa-Moriyama, Yuichi Kanmura,

Schwartz-Jampel syndrome (SJS) is a rare disorder characterized by micrognathia, kyphoscoliosis, and myotonia. The greatest challenge in the anesthetic management of patients with SJS is performing tracheal intubation. The MultiViewScope (MVS) is a video laryngoscope system in which the video monitor handle can be attached to a stylet scope, laryngoscope ... Read more >>

JA Clin Rep (JA clinical reports)
[2016, 2(1):36]

Cited: 2 times

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Schwartz-Jampel syndrome with gastroduodenal bleeding.

İpek Polat, Pakize Karaoğlu, Uluç Yiş, Semra Hız Kurul,

Schwartz-Jampel syndrome is a rare autosomal recessive disorder with joint contractures, generalized myotonia, skeletal anomalies, and facial dysmorphism. The patients with Schwartz-Jampel syndrome have muscle stiffness and electromyography reveals complex, repetitive discharges as myotonic discharges. It is unusual for a Schwartz-Jampel syndrome case to have recurrent gastrointestinal bleeding episodes. The ... Read more >>

J Pediatr Neurosci (Journal of pediatric neurosciences)
[2016, 11(3):255-257]

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