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Congenital scoliosis

Joshua J Todd, Muslima S Razaqyar, Jessica W Witherspoon, Tokunbor A Lawal, Ami Mankodi, Irene C Chrismer, Carolyn Allen, Mary D Meyer, Anna Kuo, Monique S Shelton, Kim Amburgey, Dmitriy Niyazov, Pierre Fequiere, Carsten G Bönnemann, James J Dowling, Katherine G Meilleur
The ryanodine receptor 1-related congenital myopathies ( RYR1 -RM) comprise a spectrum of slow, rare neuromuscular diseases. Affected individuals present with a mild-to-severe symptomatology ranging from proximal muscle weakness, hypotonia and joint contractures to scoliosis, ophthalmoplegia, and respiratory involvement. Although there is currently no FDA-approved treatment for RYR1- RM, our group recently conducted the first clinical trial in this patient population (NCT02362425). This study aimed to characterize novel RYR1 variants with regard to genetic, laboratory, muscle magnetic resonance imaging (MRI), and clinical findings...
2018: Frontiers in Neurology
C Ranieri, S Di Tommaso, D C Loconte, V Grossi, P Sanese, R Bagnulo, F C Susca, G Forte, A Peserico, A De Luisi, A Bartuli, A Selicorni, D Melis, M Lerone, A D Praticò, G Abbadessa, Y Yu, B Schwartz, Martino Ruggieri, Cristiano Simone, Nicoletta Resta
Postzygotic mutations of the PIK3CA [phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha] gene constitutively activate the PI3K/AKT/mTOR pathway in PIK3CA-related overgrowth spectrum (PROS) patients, causing congenital mosaic tissue overgrowth that even multiple surgeries cannot solve. mTOR inhibitors are empirically tested and given for compassionate use in these patients. PROS patients could be ideal candidates for enrolment in trials with PI3K/AKT pathway inhibitors, considering the "clean" cellular setting in which a unique driver, a PIK3CA mutation, is present...
March 16, 2018: Neurogenetics
Jun Qiao, Lingyan Xiao, Leilei Xu, Bangping Qian, Zezhang Zhu, Yong Qiu
STUDY DESIGN: This is a genetic association study. OBJECTIVE: To investigate association between suppressor of cytokine signaling-3 (SOCS3) gene polymorphisms and the onset and progression of lumbar adolescent idiopathic scoliosis (AIS) and to further clarify its role in the regulation of SOCS3 expression in AIS patients. SUMMARY OF BACKGROUND DATA: Some studies showed that muscle development imbalance may be responsible for onset and progression of lumbar AIS...
March 9, 2018: Clinical Spine Surgery
Kunihiko Hanew, Toshiaki Tanaka, Reiko Horikawa, Tomonobu Hasegawa, Susumu Yokoya
The reported prevalence of complications in Turner Syndrome (TS) was highly variable because of the rarity and the limited numbers analyzed. Again, possible presence of other complications that are not described as specific for TS, is also speculated. To resolve these issues, a questionnaire survey was conducted in hGH treated 492 patients with adult TS (17-42 years). The possible association with these complications and karyotypes were also analyzed. The complications and their prevalence were as follows: chronic thyroiditis (25...
March 7, 2018: Endocrine Journal
Rana Muhammad Kamran Shabbir, Gökhan Nalbant, Nafees Ahmad, Sajid Malik, Aslıhan Tolun
BACKGROUND: Carbohydrate sulfotransferase 11 (CHST11) is a membrane protein of Golgi that catalyses the transfer of sulfate to position 4 of the N-acetylgalactosamine residues of chondroitin. Chondroitin sulfate is the predominant proteoglycan in cartilage, and its sulfation is important in the developing growth plate of cartilage. A homozygous deletion encompassing part of the gene and the embedded miRNA MIR3922 had been detected in a woman with hand/foot malformation and malignant lymphoproliferative disease...
March 7, 2018: Journal of Medical Genetics
Anilawan Smitthimedhin, Angela Suarez, Ryan L Webb, Hansel J Otero
Intestinal malrotation is a continuum of congenital anomalies due to lack of rotation or incomplete rotation of the fetal intestine around the superior mesenteric artery axis. The abnormal bowel fixation (by mesenteric bands) or absence of fixation of portions of the bowel increases the risk of bowel obstruction, acute or chronic volvulus, and bowel necrosis. The clinical presentation of patients with malrotation without, with intermittent, or with chronic volvulus can be problematic, with an important minority presenting late or having atypical or chronic symptoms, such as intermittent vomiting, abdominal pain, duodenal obstruction, or failure to thrive...
March 3, 2018: Abdominal Radiology
John W Stelzer, Miguel A Flores, Waleed Mohammad, Nathan Esplin, Jonathan J Mayl, Christopher Wasyliw
Introduction: Klippel-Feil syndrome (KFS) is a congenital anomaly resulting from fusion of cervical vertebral bodies secondary to the dysregulation of signaling pathways during somite development. It is commonly associated with scoliosis and Sprengel deformity. We present a case of KFS with commonly associated abnormalities as well as deformities that have not yet been reported in the literature. Case Presentation: A 3-year-old girl presented for further evaluation of a left upper extremity deformity following a negative genetic workup...
2018: Case Reports in Orthopedics
Sumit Verma, Parul Goyal, Lokesh Guglani, Charlotte Peinhardt, Diane Pelzek, Paul E Barkhaus
OBJECTIVES: COL6A and LAMA2 are subtypes of congenital muscular dystrophy. METHODS: Retrospective chart review of clinical findings, spirometry, muscle histology, muscle ultrasound, neuroimaging, and Electromyography (EMG)/Nerve Conduction Study data in genetically confirmed COL6A and LAMA2 subjects. RESULTS: We identified 8 COL6A and 6 LAMA2 subjects: the female-to-male ratio was 1.3:1 and the mean age was 11.9 ± 3.6 years. Gross motor delays since birth, proximal muscle weakness, and contractures were noted in both groups...
March 2018: Journal of Clinical Neuromuscular Disease
Yetian Li, Fei Sheng, Chao Xia, Leilei Xu, Yong Qiu, Zezhang Zhu
STUDY DESIGN: A retrospective study. OBJECTIVES: To investigate the severity of pulmonary function impairment for AMC patients with concomitant scoliosis and to determine risk factors associated with the impaired pulmonary function in these patients.Summary of Background Data Arthrogryposis multiplex congenital (AMC) patients are generally believed to have impaired pulmonary function. However, the severity of respiratory morbidity and the associated risk factors have not been reported...
February 16, 2018: Spine
Hany Abdel Gawwad Soliman
STUDY DESIGN: A cross-sectional study OBJECTIVE.: The aim of this study was to study the health-related quality of life (HRQOL) of adolescents with severe untreated congenital kyphosis (CK) and congenital kyphoscoliosis (CKS) in a developing country. SUMMARY OF BACKGROUND DATA: Surgical intervention is generally indicated early in patients with progressive CK or CKS to prevent the progression of deformity and to improve the quality of life of the patients. HRQOL of adolescents with untreated CK and CKS in developing countries has never been investigated...
February 16, 2018: Spine
Nafi Dilaver, Neda Mazaheri, Reza Maroofian, Jawaher Zeighami, Tahere Seifi, Mina Zamani, Alireza Sedaghat, Gholam Reza Shariati, Hamid Galehdari
Ryanodine receptor 1 ( RYR1 ) is an intracellular calcium receptor primarily expressed in skeletal muscle with a role in excitation contraction. Both dominant and recessive mutations in the RYR1 gene cause a range of RYR1 -related myopathies and/or susceptibility to malignant hyperthermia (MH). Recently, an atypical manifestation of ptosis, variably presenting with ophthalmoplegia, facial paralysis, and scoliosis but without significant muscle weakness, has been reported in 9 cases from 4 families with bialleic variants in RYR1 ...
December 2017: Molecular Syndromology
Xi Chen, Liang Xu, Yong Qiu, Zhong-Hui Chen, Ze-Zhang Zhu, Song Li, Xu Sun
STUDY DESIGN: A retrospective study. OBJECTIVE: To investigate the incidence, risk factors, and evolution of proximal junctional kyphosis (PJK) in young children who underwent posterior hemivertebra resection and short fusion. SUMMARY OF BACKGROUND DATA: PJK is an undesired, but common complication following posterior spinal fusion. However, there is a paucity of data on PJK in young children after posterior hemivertebra resection and short fusion...
February 6, 2018: Spine
Vrushali C Ponde, Vinit Vinod Bedekar, Ashok N Johari, Shalin K Maheshwari
No abstract text is available yet for this article.
January 2018: Indian Journal of Anaesthesia
Ce Zhu, Shishu Huang, Chunguang Zhou, Xi Yang, Lei Wang, Tingxian Ling, Limin Liu, Yueming Song
RATIONALE: Situs inversus totalis is a rare anomaly disease in which the organs in the chest and abdomen are positioned in a mirror image reversal of normal positions. Although this has been confirmed to be associated with spinal abnormalities, reports about situs inversus totalis with congenital scoliosis remain limited. PATIENT CONCERNS: We present a 9-year-old girl having congenital scoliosis associated with situs inversus totalis. DIAGNOSES: She also had other associated anomalies: ventricular septal defect, mild restrictive ventilatory dysfunction, hydronephrosis, and syringomyelia...
December 2017: Medicine (Baltimore)
Dongpo Hou, Nan Kang, Peng Yin, Yong Hai
PURPOSE: To assess the different characteristics of congenital scoliosis between low-altitude geographic regions and high-altitude geographic regions in Chinese population and discuss the role of hypoxia on those differences. METHODS: A total of 120 patients with congenital scoliosis who underwent surgical treatment in our Hospital between January 2009 and October 2017 were identified. Complete data were reviewed, including medical records, X-ray, CT, and MRI pre-operatively...
January 31, 2018: International Orthopaedics
Huseyin Canaz, Ibrahim Alatas, Gokhan Canaz, Gurkan Gumussuyu, Mehmet Akif Cacan, Ayten Saracoglu, Bekir Yavuz Ucar
INTRODUCTION: Scoliosis, kyphosis, and sacral agenesis (SA) are common spine deformities in myelomeningocele (MMC) patients. Surgery of spine deformities in MMC patients is associated with various difficulties as infection, pathological skin breakage, instrumentation failure, and neurological deterioration. The purposes of this study are to share our clinical experience and discuss different surgical techniques which are defined in the literature. PATIENTS AND METHOD: We retrospectively evaluated our database of patients with MMC who underwent surgical procedures for spine deformities from 2014 to 2016...
January 25, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
Mathilde Doyard, Séverine Bacrot, Céline Huber, Maja Di Rocco, Alice Goldenberg, Mona S Aglan, Perrine Brunelle, Samia Temtamy, Caroline Michot, Ghada A Otaify, Coralie Haudry, Mireille Castanet, Julien Leroux, Jean-Paul Bonnefont, Arnold Munnich, Geneviève Baujat, Pablo Lapunzina, Sophie Monnot, Victor L Ruiz-Perez, Valérie Cormier-Daire
BACKGROUND: Stüve-Wiedemann syndrome (SWS) is characterised by bowing of the lower limbs, respiratory distress and hyperthermia that are often responsible for early death. Survivors develop progressive scoliosis and spontaneous fractures. We previously identified LIFR mutations in most SWS cases, but absence of LIFR pathogenic changes in five patients led us to perform exome sequencing and to identify homozygosity for a FAM46A mutation in one case [p.Ser205Tyrfs*13]. The follow-up of this case supported a final diagnosis of osteogenesis imperfecta (OI), based on vertebral collapses and blue sclerae...
January 22, 2018: Journal of Medical Genetics
Xuhong Xue, Sheng Zhao
RATIONALE: Hemivertebrae, which are the most frequent cause of congenital scoliosis, pose a challenge in terms of prognosis and therapy. The current gold standard treatment congenital scoliosis due to a lumbar and thoracic hemivertebra would be hemivertebra resection and short level posterior spinal fusion. Paucity literatures are reported for the treatment of hemivertebra by convex fusion with posterior hemivertebra excision. PATIENT CONCERNS: The patient was first noticed to have a spinal problem at 7 years of age...
December 2017: Medicine (Baltimore)
Ai Ito, Hideshi Fujinaga, Sachiko Matsui, Kumiko Tago, Yuka Iwasaki, Shuhei Fujino, Junko Nagasawa, Shoichiro Amari, Masao Kaneshige, Yuka Wada, Shigehiro Takahashi, Keiko Tsukamoto, Osamu Miyazaki, Takako Yoshioka, Akira Ishiguro, Yushi Ito
Background  Congenital diaphragmatic hernia (CDH) is fatal in severe cases of pulmonary hypoplasia. We experienced a fatal case of pulmonary hypoplasia due to CDH, thoracic myelomeningocele (MMC), and thoracic dysplasia. This constellation of anomalies has not been previously reported. Case Report  A male infant with a prenatal diagnosis of thoracic MMC with severe hydrocephalus and scoliosis was born at 36 weeks of gestation. CDH was found after birth and the patient died of respiratory failure due to pulmonary hypoplasia and persistent pulmonary hypertension of the newborn at 30 hours of age despite neonatal intensive care...
October 2017: American Journal of Perinatology Reports
Liam R Harris, Lindsay M Andras, Paul D Sponseller, Charles E Johnston, John B Emans, David L Skaggs
STUDY DESIGN: Multicenter retrospective cohort. OBJECTIVE: To compare improvement in nutritional status seen in early-onset scoliosis (EOS) patients following treatment with various growth-friendly techniques, especially in underweight patients (<20th weight percentile). BACKGROUND: Thoracic insufficiency resulting from EOS can lead to severe cardiopulmonary disease. In this age group, pulmonary function tests are often difficult or impossible to perform...
January 2018: Spine Deformity
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