Hashem T Al-Salman, Abdulmonem A Al-Hussien, Ibrahim H Al-Ahmed
Sprengel deformity is a congenital anomaly arising mainly in the shoulder girdle, associated with elevation of dysplastic scapula. skeletal anomalies, mainly Klippel-Feil syndrome, hemivertebrae, and omovertebral bone may be present along Sprengel anomaly. The omovertebral bone is an abnormal bone that originates from the superomedial edge of the scapula with different insertion points along the posterior cervical spine, seen in about third of the patients with Sprengel anomaly. While cosmetic to functional impairment is a common presentation to the omovertebral bone, cervical myelopathy is a rare presentation...
January 2021: Neurosciences: the Official Journal of the Pan Arab Union of Neurological Sciences
Gabriela Lazzarotto, Querusche Klippel Zanona, Kamila Cagliari Zenki, Maria Elisa Calcagnotto
Developmental cortical malformations (DCM) are one of the main causes of refractory epilepsy. Many are the mechanisms underlying the hyperexcitability in DCM, including the important contribution of N-methyl-D-aspartate receptors (NMDAR). NMDAR blockers are shown to abolish seizures and epileptiform activity. Memantine, a NMDAR antagonist used to treat Alzheimeŕs disease, has been recently investigated as a possible treatment for other neurological disorders. However, the effects on preventing or diminishing seizures are controversial...
January 16, 2021: Neuroscience
Jiang Liu, Rui He, Chao Wang
BACKGROUND: Basilar invagination (BI) with atlantoaxial dislocation (AAD) is not uncommon in patients with scoliosis, Klippel-Feil syndrome (KFS), and other bone deformities. Cases with combinations of the abovementioned dislocations and deformities with posterior cranial fossa teratoma are rare in the clinic and difficult to handle. CASE PRESENTATION: This case presents a 34-year-old woman diagnosed with atlantoaxial dislocation and posterior cranial fossa mass...
January 18, 2021: Chinese Neurosurgical Journal
Benjamin Chanes, Marta Arriaza, Yves Lacassie
At the 43rd annual meeting of the ASHG in 1993, the senior author reported monozygotic twins with discordant phenotype due to a ring 13 chromosomal mosaic syndrome in one of them. Her major manifestations included: intrauterine growth restriction (IUGR), failure to thrive (FTT), delayed developmental milestones/intellectual disability (DDM/ID), left hemihypoplasia of her body with leg length discrepancy, left profound deafness due to inner ear malformation, telecanthus, dental anomalies mainly on the left side, congenital torticollis due to Klippel-Feil anomaly, 13 ribs, scoliosis, dislocation of the left hip, and distinctive left hand and feet...
January 13, 2021: American Journal of Medical Genetics. Part A
Meret Wegler, Christian Roth, Eckehard Schumann, Jillene Kogan, Ellen Totten, Maria J Guillen Sacoto, Rami Abou Jamra, Frauke Hornemann
RIPPLY2 is an essential part of the formation of somite patterning during embryogenesis and in establishment of rostro-caudal polarity. Here, we describe three individuals from two families with compound-heterozygous variants in RIPPLY2 (NM_001009994.2): c.238A > T, p.(Arg80*) and c.240-4 T > G, p.(?), in two 15 and 20 year old sisters, and a homozygous nonsense variant, c.238A > T, p.(Arg80*), in an 8 year old boy. All patients had multiple vertebral body malformations in the cervical and thoracic region, small or absent rib involvement, myelopathies, and common clinical features of SCDO6 including scoliosis, mild facial asymmetry, spinal spasticity and hemivertebrae...
January 7, 2021: Clinical Genetics
Björn Stessel, Kristof Nijs, Caroline Pelckmans, Jeroen Vandenbrande, Jean-Paul Ory, Alaaddin Yilmaz, Pascal Starinieri, Michiel Van Tornout, Nina De Klippel, Paul Dendale
BACKGROUND/OBJECTIVES: Endoscopic coronary artery bypass grafting (Endo-CABG) is a minimally invasive CABG procedure with retrograde arterial perfusion. The main objective of this study is to assess neurocognitive outcome after Endo-CABG. METHODS/DESIGN: In this prospective observational cohort study, patients were categorised into: Endo-CABG (n = 60), a comparative Percutaneous Coronary Intervention (PCI) group (n = 60) and a healthy volunteer group (n = 60). A clinical neurological examination was performed both pre- and postoperatively, delirium was assessed postoperatively...
2020: PloS One
Travis S CreveCoeur, Alexander T Yahanda, Cormac O Maher, Gabrielle W Johnson, Laurie L Ackerman, P David Adelson, Raheel Ahmed, Gregory W Albert, Phillipp R Aldana, Tord D Alden, Richard C E Anderson, Lissa Baird, David F Bauer, Karin S Bierbrauer, Douglas L Brockmeyer, Joshua J Chern, Daniel E Couture, David J Daniels, Robert C Dauser, Susan R Durham, Richard G Ellenbogen, Ramin Eskandari, Herbert E Fuchs, Timothy M George, Gerald A Grant, Patrick C Graupman, Stephanie Greene, Jeffrey P Greenfield, Naina L Gross, Daniel J Guillaume, Gabe Haller, Todd C Hankinson, Gregory G Heuer, Mark Iantosca, Bermans J Iskandar, Eric M Jackson, Andrew H Jea, James M Johnston, Robert F Keating, Michael P Kelly, Nickalus Khan, Mark D Krieger, Jeffrey R Leonard, Francesco T Mangano, Timothy B Mapstone, J Gordon McComb, Arnold H Menezes, Michael Muhlbauer, W Jerry Oakes, Greg Olavarria, Brent R O'Neill, Tae Sung Park, John Ragheb, Nathan R Selden, Manish N Shah, Chevis Shannon, Joshua S Shimony, Jodi Smith, Matthew D Smyth, Scellig S D Stone, Jennifer M Strahle, Mandeep S Tamber, James C Torner, Gerald F Tuite, Scott D Wait, John C Wellons, William E Whitehead, David D Limbrick
BACKGROUND: Occipital-cervical fusion (OCF) and ventral decompression (VD) may be used in the treatment of pediatric Chiari-1 malformation (CM-1) with syringomyelia (SM) as adjuncts to posterior fossa decompression (PFD) for complex craniovertebral junction pathology. OBJECTIVE: To examine factors influencing the use of OCF and OCF/VD in a multicenter cohort of pediatric CM-1 and SM subjects treated with PFD. METHODS: The Park-Reeves Syringomyelia Research Consortium registry was used to examine 637 subjects with cerebellar tonsillar ectopia ≥ 5 mm, syrinx diameter ≥ 3 mm, and at least 1 yr of follow-up after their index PFD...
January 13, 2021: Neurosurgery
Ella M M A Martin, Annabelle Enriquez, Duncan B Sparrow, David T Humphreys, Aideen M McInerney-Leo, Paul J Leo, Emma L Duncan, Kavitha R Iyer, Joelene A Greasby, Eddie Ip, Eleni Giannoulatou, Delicia Sheng, Elizabeth Wohler, Clémantine Dimartino, Jeanne Amiel, Yline Capri, Daphné Lehalle, Adi Mory, Yael Wilnai, Yael Lebenthal, Ali G Gharavi, Grażyna G Krzemień, Monika Miklaszewska, Robert D Steiner, Cathy Raggio, Robert Blank, Hagit Baris Feldman, Hila Milo Rasouly, Nara L M Sobreira, Rebekah Jobling, Christopher T Gordon, Philip F Giampietro, Sally L Dunwoodie, Gavin Chapman
The genetic causes of multiple congenital anomalies are incompletely understood. Here we report novel heterozygous predicted loss-of-function and predicted damaging missense variants in the WBP11 gene, in seven unrelated families with a variety of overlapping congenital malformations including cardiac, vertebral, tracheo-oesophageal, renal and limb defects. WBP11 encodes a component of the spliceosome with the ability to activate pre-mRNA splicing. We generated a Wbp11 null allele in mouse using CRISPR-Cas9 targeting...
December 4, 2020: Human Molecular Genetics
Arnold H Menezes, Brian J Dlouhy
OBJECTIVE: Recognition of congenital tethered cervical cord in adults and literature review. METHODS: Retrospective review of adult onset tethered cervical cord patients (age >20 years). RESULTS: Three adults were identified; 2 women and 1 man, average age 47 years. The presenting symptoms were neck pain with restricted movement (3), quadriparesis (2), and sensory changes (2). Hyperreflexia was present in all three. Bony abnormalities were mainly bifid cervical spinous processes (3), with Klippel-Feil abnormalities in 1...
October 24, 2020: World Neurosurgery
Terence Verla, Marc Prablek, Alexander Ropper, David Xu, Michael Raber
No abstract text is available yet for this article.
December 2020: World Neurosurgery
Atul Goel
No abstract text is available yet for this article.
December 2020: World Neurosurgery
Jonathan M Parish, Christopher M Holland, Andrew T Healy
No abstract text is available yet for this article.
November 18, 2020: World Neurosurgery
Fadie D Altuame, Chad Haldeman-Englert, Edward Cupler, Mohammad A Al Muhaizea, Hamad I Al-Zaidan, Mais Hashem, Fowzan S Alkuraya
Klippel-Feil syndrome 4 (KFS4; MIM# 616549) is an autosomal recessive disorder caused by biallelic pathogenic variants in MYO18B and comprises, in addition to Klippel-Feil anomaly (KFA), nemaline myopathy, facial dysmorphism, and short stature. We aim to outline the natural history of KFS4 and provide an updated description of its clinical, radiological, laboratory, and molecular findings. We comprehensively analyzed the medical records of 6 Saudi and 1 American patients (including 5 previously unpublished cases) with a molecularly confirmed diagnosis of KFS4...
November 11, 2020: American Journal of Medical Genetics. Part A
Thierry Facon, Ruben Niesvizky, Maria-Victoria Mateos, David Siegel, Cara Rosenbaum, Sara Bringhen, Katja Weisel, P Joy Ho, Heinz Ludwig, Shaji Kumar, Kenneth Wang, Mihaela Obreja, Zhao Yang, Zandra Klippel, Khalid Mezzi, Amanda Goldrick, Christina Tekle, Meletios A Dimopoulos
Frailty is most prevalent among elderly multiple myeloma (MM) patients, and frail patients have a higher risk of poor outcomes due to reduced performance status or comorbidities. This post hoc analysis assessed efficacy and safety of carfilzomib combinations in frail patients with relapsed and/or refractory MM from the phase 3 ASPIRE (carfilzomib [27 mg/m2]-lenalidomide-dexamethasone [KRd27] vs lenalidomide-dexamethasone [Rd]), ENDEAVOR (carfilzomib [56 mg/m2]-dexamethasone [Kd56] vs bortezomib-dexamethasone [Vd]), and ARROW (once-weekly carfilzomib [70 mg/m2]-dexamethasone [Kd70] vs carfilzomib [27 mg/m2]-dexamethasone [Kd27]) studies...
November 10, 2020: Blood Advances
Fuchun Zhou, David J Elzi, Panneerselvam Jayabal, Xiuye Ma, Yu-Chiao Chiu, Yidong Chen, Barron Blackman, Susan T Weintraub, Peter J Houghton, Yuzuru Shiio
We report here that the autocrine signaling mediated by growth and differentiation factor 6 (GDF6), a member of the bone morphogenetic protein (BMP) family of cytokines, maintains Ewing sarcoma growth by preventing Src hyperactivation. Surprisingly, Ewing sarcoma depends on the prodomain, not the BMP domain, of GDF6. We demonstrate that the GDF6 prodomain is a ligand for CD99, a transmembrane protein that has been widely used as a marker of Ewing sarcoma. The binding of the GDF6 prodomain to the CD99 extracellular domain results in recruitment of CSK (C-terminal Src kinase) to the YQKKK motif in the intracellular domain of CD99, inhibiting Src activity...
November 3, 2020: Cell Reports
Anand Ashok, Deeptiman James, Abhay Gahukamble, Thomas Palocaren, Vrisha Madhuri
Modified Woodward's procedure improves shoulder movement and cosmesis. There is a paucity of literature reporting objective assessment of functional outcomes. We report cosmetic and functional outcomes in Sprengel's deformity treated with modified Woodward's procedure. Children aged 12 years and under, who underwent Modified Woodward's procedure from January 2006 to December 2014 were included in the prospective study. Improvement in Cavendish grade, Rigault scale, and shoulder movements was noted. Pediatric outcomes data collection instrument (PODCI) and simple shoulder test (SST) scores were assigned at the final follow-up...
October 29, 2020: Journal of Pediatric Orthopedics. Part B
Justin Cole, Fadi Nemeh, Achint K Singh, Jason Lally
Intervertebral disc calcification is rare in the pediatric population and is associated with sudden neurological manifestations. Although commonly symptomatic, conservative management yields excellent prognosis in the vast majority of cases. The following case illustrates the finding of intervertebral disc calcification in a patient with vertebral body segmentation anomaly consistent with Klippel-Feil Syndrome. As both entities are associated with potential neurological sequelae, this case of coexistent pathologies highlights the importance of recognizing the potential presence of intervertebral disc calcifications in pediatric Klippel-Feil Syndrome patients...
August 2020: Journal of Radiology Case Reports
Yan He, Yue Zhao, David M Nelson, Anke Klippel, Michael D Reily
Extracellular adenosine, produced through the activity of ecto-5'-nucleotidase CD73, elicits potent immunosuppressive effects, and its upregulation in tumor cells as well as in stromal and immune cell subsets within the tumor microenvironment is hypothesized to represent an important resistance mechanism to current cancer immunotherapies. Soluble CD73 (sCD73) enzymatic activity measured in patient serum or plasma at a baseline is reported to have prognostic as well as predictive relevance, with higher sCD73 activity associating with poor overall and progression-free survival in melanoma patients undergoing anti-PD1 monoclonal antibody treatment...
November 3, 2020: Analytical Chemistry
Michael Pompliano, Stuart Changoor, Samuel Mease, Cyrus Emami, Kumar Sinha, Ki Soo Hwang
The presence of an omovertebral bone with Sprengel's deformity and Klippel-Feil syndrome is a complex congenital anomaly that is not well understood. It most commonly manifests as cosmetic deformity, limited range of motion, and functional disability, although there are reports of the insidious development of cervical myelopathy. In this paper, the authors present the case of a 49-year-old man with acute neurological deficits after a low-energy mechanism of traumatic spinal cord compression, resulting from an impinging omovertebral bone through a traumatic laminar defect...
September 25, 2020: Journal of Neurosurgery. Spine
Ekkehard Klippel, Volker Moshagen, Torsten Pietsch, Christian Heinen
No abstract text is available yet for this article.
September 10, 2020: Der Nervenarzt
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