The usefulness, reliability, and quality of YouTube video clips on congenital muscular torticollis: A STROBE compliant study.

This study aimed to evaluate the usefulness, reliability, quality, and related characteristics of YouTube video clips on congenital muscular torticollis (CMT). This cross-sectional study analyzed 47 YouTube video clips on CMT. They were classified as either useful or misleading by 2 rehabilitation doctors.

Effects of abdominal drawing-in maneuver with or without prior iliopsoas stretching on gluteus maximus activity during prone hip extension.

Background: Prone hip extension (PHE) has been investigated to strengthen the hip joint and back extensor muscles. However, it has not been compared with various PHE exercises in individuals with iliopsoas shortness.

Objective: This study compared pelvic compensation and hip and back extensor muscle activities in individuals with iliopsoas shortness during prone hip extension (PHE) using the abdominal drawing-in maneuver alone (PHEA) and after iliopsoas stretching (PHEAS).

Effect of combined pulmonary fibrosis and emphysema on patients with connective tissue diseases and systemic sclerosis: a systematic review and meta-analysis.

Background: This study aimed to analyze the literature systematically to determine the clinical characteristics and prognosis of patients with connective tissue disease (CTD) with combined pulmonary fibrosis and emphysema (CPFE) compared to those of patients with CTD-interstitial lung disease (CTD-ILD) without emphysema.

Methods: We searched MEDLINE, EMBASE, Cochrane Library, and KoreaMed for relevant articles published before July 2019. Studies meeting all the following criteria were included: (1) original research studies evaluating the effect of CPFE on CTD, (2) studies that compared patients with CTD-CPFE to those with CTD-ILD without emphysema, and (3) studies providing data on physical capacity, pulmonary function, or death in patients with CTD.

Sternocleidomastoid muscle asymmetry in unilateral congenital superior oblique palsy.

Background: To determine whether there is an asymmetry in bilateral sternocleidomastoid muscle (SCM) thickness in patients with unilateral congenital superior oblique palsy (SOP) and its association with surgical results.

Methods: The medical records of 186 patients with head tilt secondary to unilateral SOP, who were evaluated for the status of the SCM with neck ultrasound or magnetic resonance imaging, were reviewed. The SCM asymmetry index was calculated as a bilateral difference in the maximal muscle thickness divided by each tilted-side SCM thickness.

Which growth parameters can affect mortality in cerebral palsy?

Background: The objective of this study was to identify growth parameters that can affect mortality of cerebral palsy (CP).

Method: This was a birth cohort study based on the National Health Screening Program for Infants and Children database along with the National Health Insurance Service, which were linked using a personal identifier number. The birth cohort consisted of 2 191 956 subjects, representing 93.

Ipsilateral Hypertrophy of the Mastoid Process in Surgical Cases of Congenital Muscular Torticollis.

Objective: This study was to investigate ipsilateral hypertrophy of the mastoid process in the patients with congenital muscular torticollis (CMT).

Design: Retrospective cross-sectional study.

Patients: Children with CMT.

Identification of a rare homozygous c.790C>T variation in the TFB2M gene in Korean patients with autism spectrum disorder.

Mitochondrial dysfunction and subsequent enhanced oxidative stress is implicated in the pathogenesis of autism spectrum disorder (ASD). Mitochondrial transcription factor B2 (TFB2M) is an essential protein in mitochondrial gene expression. No reports have described TFB2M mutations and variations involved in any human diseases.

Association of hyperuricemia and pulmonary hypertension: A systematic review and meta-analysis.

To investigate the association of hyperuricemia with pulmonary hypertension (PH) in term of subsequent development, severity, and prognosis of PH. The authors systematically reviewed articles from databases and conducted meta-analyses as follows: (1) association of serum uric acid (UA) levels with the presence of PH; (2) association between serum UA levels and subsequent development of PH, in terms of odds ratio of the development of PH; and (3) association of serum UA levels with severity and prognosis of PH, in terms of pulmonary arterial pressure and hazard ratio of death. Twenty-six studies published between 1999 and 2017 were included.

Torticollis Caused by Nontraumatic Craniovertebral Junction Abnormalities.

Torticollis could be the only symptom and sign of craniovertebral junction (CVJ) abnormality. It could be difficult to identify CVJ abnormality as a cause of torticollis due to their rarity, especially for the subjects with torticollis caused by nontraumatic CVJ abnormalities. There has been no report to focus on nontraumatic CVJ abnormalities as a cause of torticollis.

Rare Concurrence of Congenital Muscular Torticollis and a Malignant Tumor in the Same Sternocleidomastoid Muscle.

While congenital muscular torticollis (CMT) can occur along with other conditions, such as clavicle fracture or brachial plexus injury, these conditions exist outside the sternocleidomastoid muscle (SCM). We present a rare case with concurrence of CMT and a malignant tumor inside the same SCM, along with serial clinical and radiological findings of the atypical features of CMT. The malignant tumor was in fact a low-grade fibromyxoid sarcoma.

Craniovertebral Junction Abnormalities in Surgical Patients With Congenital Muscular Torticollis.

Our clinical experience led us to realize that craniovertebral junction (CVJ) abnormalities were common in surgical patients with congenital muscular torticollis (CMT). This study aimed to report the concurrence rate of CVJ abnormalities in surgical patients with CMT, along with comprehensive evaluation of type of concurrent CVJ abnormalities. This was a retrospective cohort study in a tertiary hospital, including 41 subjects who underwent surgical release for CMT at the mean age of 8.

Contralateral Involvement of Congenital Muscular Torticollis and Clavicular Fracture.

Congenital muscular torticollis (CMT) is known to concur with some conditions such as developmental dysplasia of the hip or brachial plexus injury, which gives us some insights for pathogenesis of CMT. Although clavicular fracture is the most common fracture in newborns, little is known about concurrence of CMT and clavicular fracture. Our clinical experience led us to realize that concurrence of CMT and clavicular fracture tended to occur on the contralateral side for each other rather than the ipsilateral side.

Korean Database of Cerebral Palsy: A Report on Characteristics of Cerebral Palsy in South Korea.

Objective: To introduce the Korean Database of Cerebral Palsy (KDCP) and to provide the first report on characteristics of subjects with cerebral palsy (CP).

Methods: The KDCP is a nationwide database of subjects with CP, which includes a total of 773 subjects. Characteristics such as demography, birth history, onset and type of CP, brain magnetic resonance imaging (MRI) findings, functional ability and accompanying impairments, were extracted and analyzed.

A Case of Grisel Syndrome Showing No Underlying Laxity of the Atlanto-axial Joint.

Grisel syndrome is a rare, non-traumatic atlanto-axial subluxation associated with an inflammatory or infectious process in the upper neck. According to the two-hit hypothesis, which is widely accepted for the pathogenesis of Grisel syndrome, preexisting ligamentous laxity of the atlanto-axial joint is regarded as the first hit. An inflammatory or infectious process of the atlanto-axial joint acts as the second hit, resulting in non-traumatic atlanto-axial subluxation.

Association between acute gouty arthritis and meteorological factors: An ecological study using a systematic review and meta-analysis.

Objectives: The aims of this study were as follows: (1) to analyze the literature systematically regarding the seasonal and monthly variation of the occurrence of episodes of acute gouty arthritis, and (2) to investigate the relationship between the occurrence of episodes of acute gouty arthritis and meteorological parameters.

Methods: The present authors systematically reviewed databases for articles published before November 2015. Studies with quantitative data on episodes of acute gouty arthritis by months and/or seasons were included.

Effectiveness of Ear Splint Therapy for Ear Deformities.

Objective: To present our experience with ear splint therapy for babies with ear deformities, and thereby demonstrate that this therapy is an effective and safe intervention without significant complications.

Methods: This was a retrospective study of 54 babies (35 boys and 19 girls; 80 ears; age ≤3 months) with ear deformities who had received ear splint therapy at the Center for Torticollis, Department of Physical Medicine and Rehabilitation, Ajou University Hospital between December 2014 and February 2016. Before the initiation of ear splint therapy, ear deformities were classified with reference to the standard terminology.

Effectiveness of Surgical Release in Patients With Neglected Congenital Muscular Torticollis According to Age at the Time of Surgery.

Objective: To identify the correlation between change in spinal deformities after surgical release and age at the time of surgery, and the effectiveness of surgical release in patients with neglected congenital muscular torticollis (CMT).

Methods: This was a retrospective study of 46 subjects with neglected CMT who had undergone surgical release at age ≥5 years at a tertiary medical center between January 2009 and January 2014. Spinal deformities were measured on anteroposterior plain radiographs of the cervical and whole spine, both preoperatively and postoperatively, to assess 3 parameters: cervicomandibular angle (CMA), lateral shift (LS), and Cobb angle (CA).

Effects of coffee consumption on serum uric acid: systematic review and meta-analysis.

Objective: Study results on the effects of coffee consumption on serum uric acid (UA) have been conflicting. The aim of this study is to analyze the literature regarding the effect of coffee consumption on serum UA.

Methods: We searched MEDLINE, EMBASE, the Cochrane library, and KoreaMed for all articles published before January 2015.

Craniofacial Asymmetry in Adults With Neglected Congenital Muscular Torticollis.

Objective: To evaluate the craniofacial asymmetry in adults with neglected congenital muscular torticollis (CMT) by quantitative assessment based on craniofacial three-dimensional computed tomography (3D-CT).

Methods: Preoperative craniofacial asymmetry was measured by 3D-CT for 31 CMT subjects ≥18 years of age who visited a tertiary medical center and underwent 3D-CT between January 2009 and December 2013. The relationship between the age and the severity of craniofacial asymmetry was analyzed in reference to anteroposterior length asymmetry of the frontal bone and zygomatic arch, vertical and lateral displacements of the facial landmarks, and mandibular axis rotation.

Effectiveness of Surgical Treatment for Neglected Congenital Muscular Torticollis: A Systematic Review and Meta-Analysis.

Background: Findings on the effectiveness of surgical release for neglected congenital muscular torticollis have been conflicting. This systematic review aims to examine the literature describing the effectiveness of surgery for neglected congenital muscular torticollis.

Methods: The authors conducted a systematic review to examine the effectiveness of surgical treatment for neglected congenital muscular torticollis by means of meta-analysis.

Quantitative analysis of magnetic resonance imaging of the neck and its usefulness in management of congenital muscular torticollis.

Objective: To quantify magnetic resonance imaging (MRI) findings of congenital muscular torticollis (CMT) and to demonstrate the usefulness of quantitative MRI findings in the management of CMT.

Methods: This was a retrospective study of 160 subjects with CMT who had undergone neck MRI at the age of 48 months or younger at a tertiary medical center. Among the 160 subjects, 54 had undergone surgical release of CMT and 106 subjects had not undergone surgery.

The first Korean patient with Potocki-Shaffer syndrome: a rare cause of multiple exostoses.

Potocki-Shaffer syndrome (PSS, OMIM #601224) is a rare contiguous gene deletion syndrome caused by haploinsufficiency of genes located on the 11p11.2p12. Affected individuals have a number of characteristic features including multiple exostoses, biparietal foramina, abnormalities of genitourinary system, hypotonia, developmental delay, and intellectual disability.

Congenital muscular torticollis concurrent with sagittal synostosis: a case report.

Congenital muscular torticollis (CMT) and craniosynostosis are diseases that cause plagiocephaly and craniofacial asymmetry in children. In our literature review, we did not find any report of concurrent manifestation of CMT and craniosynostosis. A 41-month-old boy visited our hospital with left torticollis, right laterocollis, and craniofacial asymmetry as the main findings.

Identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness.

We examined a Korean family with complex phenotypes characterized by intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness. Since we did not find any abnormality using several conventional genetic tests for detection of chromosomal aberrations, gene copy number variations and mitochondrial gene mutations, we aimed to identify disease-causing genetic alteration(s) in this family. We conducted whole-exome sequencing (WES) in this family.