OBJECTIVE: To explore the genotype-phenotype relationship in a child with Opitz G/BBB syndrome (OS) with mild clinical phenotype. METHODS: A child with motor developmental delay as the initial symptom admitted to Xi'an Children's Hospital on June 10, 2021 was selected for this study. Clinical data were collected, and peripheral blood samples were obtained from the child and his mother. Whole exome sequencing (WES) was performed to identify genetic variant in the child. Candidate variant were verified by Sanger sequencing to assess inheritance patterns and pathogenicity. Real-time fluorescence quantitative PCR (RT-qPCR) and Western blot (WB) analyses were conducted to evaluate the effects of the variant on mRNA and protein expression, respectively, using recombinant expression plasmids generated in vitro. This study was approved by the Medical Ethics Committee of Xi'an Children's Hospital (Ethics No. 20240045). RESULTS: The child, a 9-month-and-7-day-old boy, presented with a low nasal bridge, hypertelorism, and difficulty sitting independently. Echocardiography revealed an atrial septal defect. WES identified a homozygous variant in the MIDI gene, c.1483C>T (p.R495X), which was confirmed by Sanger sequencing and found to be inherited from the mother.Recombinant expression plasmids were successfully constructed. RT-qPCR analysis showed that the variant significantly reduced MIDI gene mRNA expression, while WB results indicated that the variant led to the production of a truncated protein. CONCLUSION The mild clinical phenotype of OS in this child may be attributed to the mRNA degradation escape mechanism induced by the nonsense variant c.1483C>T (p.R495X) in the MIDI gene. These findings provide valuable diagnostic insights for this pedigree and contribute to the understanding of the genotype-phenotype correlation in OS.
Humans ; Male ; Infant ; Transcription Factors/metabolism* ; Microtubule Proteins/genetics* ; Craniosynostoses/genetics* ; Hypospadias/genetics* ; Codon, Nonsense/genetics* ; RNA, Messenger/metabolism* ; Female ; RNA Stability/genetics* ; Phenotype ; Nuclear Proteins/genetics* ; Ubiquitin-Protein Ligases ; Esophagus/abnormalities* ; Hypertelorism

Rectovestibular fistula is the most common type of anomaly found in a female newborn with anorectal malformation. However, when the baby is found to have two orifices in the introitus, rectovaginal fistula is much less common and suspected. The rare differential diagnosis of Müllerian agenesis, a condition in which the rectum shifts anteriorly and the vagina is absent, is seldom considered. In many cases, the diagnosis of Müllerian agenesis is made only during definitive anorectoplasty. In view of its impact on management, a proper examination under anaesthesia, imaging studies and a diagnostic laparoscopy may be required to confirm the presence or absence of Müllerian structures in such patients. We herein describe a patient with the rare coexistence of VACTERL association and Müllerian agenesis, and discuss the management of anorectal malformations in female patients with Müllerian agenesis.
Abnormalities, Multiple ; diagnosis ; Anal Canal ; abnormalities ; surgery ; Anorectal Malformations ; Anus, Imperforate ; complications ; diagnosis ; surgery ; Child ; Diagnosis, Differential ; Esophagus ; abnormalities ; Female ; Heart Defects, Congenital ; complications ; Humans ; Infant, Newborn ; Kidney ; abnormalities ; Laparoscopy ; Limb Deformities, Congenital ; complications ; Mullerian Ducts ; abnormalities ; Rectal Fistula ; diagnosis ; Rectum ; abnormalities ; surgery ; Spine ; abnormalities ; Trachea ; abnormalities ; Vagina ; abnormalities

STUDY DESIGN: Medical record-based survey. PURPOSE: To survey the overall incidence of the intra- and postoperative complications and sequelae, and to propose the preventive measures to reduce complications in the spinal tuberculosis surgery. OVERVIEW OF LITERATURE: There is no study focused on the surgery-related complications and sequelae, with some touching lightly on the clinical problems. METHODS: There were 901 patients in this study, including 92 paraplegics. One hundred eighty-six patients had no visible deformity, while those of 715 patients were visible. Six hundred fifty-nine patients had slight to moderate non-rigid kyphosis, and 56 had severe rigid kyphosis. Sixty-seven out of 92 paraplegics had slight to moderate non-rigid kyphosis, and 25 had severe kyphosis. There were 134 cervical and cervicodorsal lesions, 518 thoracic and thoracolumbar lesions, and 249 lumbar and lumbosacral lesions. Seven hundred sixty-four patients had primarily anterior surgeries, and 137 had posterior surgeries. Instrumentation surgery was combined in 174 patients. RESULTS: There were intra- and postoperative complications: direct large vessel and neurological injuries (cord, roots, nerves), late thrombophlebitis, various thoracic cavity problems, esophagus and ureter injuries, peritoneum perforation, ileus, wound infections, stabilization failure, increase of deformity and late adjacent joint and bone problems. Thrombophlebitis and sympatheticolysis symptoms and signs in the lower limbs were the most common complications related with anterior lumbar and lumbosacral surgeries. Kyphosis increased in 31.5% of the non-instrumented anterior surgery cases (42% in children and 21% in adults). CONCLUSIONS: The safe, effective and most familiar surgical procedure should be adopted to minimize complications and sequelae. Cosmetic spinal surgery should be withheld if functional improvement could not be expected.
Child ; Congenital Abnormalities ; Esophagus ; Humans ; Ileus ; Incidence ; Joints ; Kyphosis ; Lower Extremity ; Peritoneum ; Postoperative Complications ; Spine* ; Thoracic Cavity ; Thrombophlebitis ; Tuberculosis* ; Tuberculosis, Spinal ; Ureter ; Wound Infection

Endoscopic submucosal dissection (ESD) is a widely accepted treatment for early gastric and esophageal cancer. Compared to endoscopic mucosal resection, ESD has the advantage of enabling en bloc removal of tumors regardless of their size. However, ESD can result in a large artificial ulcer, which may lead to a considerable deformity. Circumferential mucosal defects of more than three-fourths the esophageal circumference, long longitudinal mucosal defects (>30 mm), and lesions in the upper esophagus are significant risk factors for the development of post-ESD strictures of the esophagus. In the stomach, a circumferential mucosal defects more than three-fourths in extent and longitudinal mucosal defects >5 cm are risk factors of post-ESD stricture. If scheduled early, regular endoscopic balloon dilation is effective in controlling and preventing post-ESD stricture. Moreover, intralesional steroid injections or oral steroids can achieve remission of dysphagia or reduce the need for repeated endoscopic balloon dilation. However, further study is needed to improve the prevention of stricture formation.
Congenital Abnormalities ; Constriction, Pathologic* ; Deglutition Disorders ; Esophageal Neoplasms ; Esophagus ; Risk Factors ; Steroids ; Stomach ; Ulcer

A pulmonary artery sling is a very rare congenital abnormality in which the left pulmonary artery rises from the posterior surface of the right pulmonary artery and then passes between the trachea and the esophagus, causing tracheal compression. It is associated with tracheo-bronchial abnormalities (50%) and cardiovascular abnormalities (30%). It may produce respiratory symptoms through the airway compression of the abnormal left pulmonary artery and congenital abnormalities associated with it. Because most (90%) pulmonary artery sling patients present symptoms during infancy, their condition is often diagnosed in the first year of life. However, a pulmonary artery sling is occasionally found in adults. It is usually asymptomatic and found incidentally. This is a very rare case of an asymptomatic pulmonary artery sling in an adult. A 38-year-old man presented symptoms of mild exertional dyspnea. His spiral computed tomography showed a pulmonary artery sling. He was discharged without specific treatment because his symptoms improved without specific treatment and might not have been associated with a pulmonary artery sling. We report an adult case of an asymptomatic pulmonary artery sling diagnosed via spiral computed tomography, accompanied by a literature review.
Adult* ; Cardiovascular Abnormalities ; Congenital Abnormalities ; Dyspnea ; Esophagus ; Humans ; Pulmonary Artery* ; Tomography, Spiral Computed ; Trachea

BACKGROUND/AIMS: Eosinophilic esophagitis (EoE) is a chronic inflammatory disorder of the esophagus. Similar to asthma, EoE can induce irreversible structural changes in the esophagus as a result of chronic and persistent eosinophilic inflammation. The aim of this study was to analyse changes in symptoms, eosinophil counts and endoscopic findings after treatment. METHODS: Nine patients with EoE (6 men and 3 women; mean age, 36.44 years) were diagnosed with EoE based on typical symptoms, endoscopic abnormalities and infiltration of the esophageal epithelium with > or = 15 eosinophils/high-power field. The average endoscopic follow-up period was 10 months, ranging from 1 to 25 months. Symptoms and endoscopic and pathological findings at initial observation and follow-up were evaluated. RESULTS: Seven of the 9 patients had dysphagia symptoms, which improved in 4 of 6 patients who were treated with proton pump inhibitor. Two patients were unresponsive to proton pump inhibitor and another 2 patients were treated with corticosteroid, which led to symptomatic relief. In 8 patients, esophageal eosinophilia was improved histologically at follow-up after treatment. Six of the 9 patients had typical endoscopic findings of EoE at initial examination. Despite treatment, these findings remained in 5 of the 6 patients at follow-up endoscopy. CONCLUSIONS: After treatment, the symptoms and eosinophil counts were temporarily improved, but the endoscopic findings of EoE were generally not improved. This indicates that deformity of esophageal structure due to eosinophilic inflammation might be irreversible despite proper management.
Asthma ; Congenital Abnormalities ; Deglutition Disorders ; Endoscopy ; Eosinophilia ; Eosinophilic Esophagitis ; Eosinophils ; Epithelium ; Esophagus ; Follow-Up Studies ; Humans ; Inflammation ; Male ; Proton Pumps

The left aortic arch with an aberrant right subclavian artery, or arteria lusoria, is the most common aortic arch anomaly, occurring in 0.5-2.5% of individuals. In such cases, the angular course of the arteria lusoria to the ascending aorta imposes difficulty in passing a guide wire to the ascending aorta during right transradial catheterization. Here, the case of a 53-year-old woman with intermittent chest tightness and coughing is reported. Aberrant right subclavian artery (arteria lusoria) was diagnosed via aortogram during right transradial coronary angiography. Compression of the esophagus and trachea by the aberrant right subclavian artery was demonstrated by chest computed tomography (CT).
Aneurysm ; Aorta ; Aorta, Thoracic ; Cardiovascular Abnormalities ; Catheterization ; Catheters ; Coronary Angiography ; Cough ; Deglutition Disorders ; Esophagus ; Female ; Humans ; Middle Aged ; Subclavian Artery ; Thorax ; Trachea

Townes-Brocks syndrome (TBS) is a rare autosomal dominant congenital disorder caused by mutations in the SALL1 gene. Its signs and symptoms overlap with other genetic syndromes, including VACTERL association, Pendred syndrome, Baller-Gerold syndrome, and cat eye syndrome. Structural vertebral abnormalities, hypoplasia of the thumb, and radial bone abnormalities, which are not usually associated with TBS, help in the differential diagnosis of these syndromes. We report the case of a family whose members were diagnosed with TBS with congenital hypothyroidism and had a novel SALL1 gene mutation.
Abnormalities, Multiple ; Anal Canal ; Aneuploidy ; Animals ; Anus, Imperforate ; Cats ; Chromosome Disorders ; Chromosomes, Human, Pair 22 ; Congenital Hypothyroidism ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Craniosynostoses ; Diagnosis, Differential ; Esophagus ; Eye ; Goiter, Nodular ; Hearing Loss, Sensorineural ; Heart Defects, Congenital ; Humans ; Kidney ; Limb Deformities, Congenital ; Radius ; Spine ; Thumb ; Trachea

Dysphagia lusoria is used to describe the symptomatic compression of the esophagus from an anomalous vessel of the aortic arch. A right aortic arch with an aberrant left subclavian artery is the most common type of aortic arch abnormalities, followed by double aortic arch, and then an aberrant right subclavian artery. These anomalous vessels may cause dysphagia from the compression of the esophagus in adults, but they usually do not produce symptoms and they are usually found incidentally. Several cases of adult dysphagia lusoria have been reported in Korea, but there has been no reported case in an adolescent. We experienced a case of a 17-year-old female who suffered from dysphagia. We evaluated the possible causes of her dysphagia by performing esophagogastroduodenoscopy, esophagoraphy, esophageal manometry and chest computed tomography. We finally diagnosed this case as dysphagia lusoria caused by an aberrant right subclavian artery.
Adolescent ; Adult ; Aneurysm ; Aorta, Thoracic ; Cardiovascular Abnormalities ; Deglutition Disorders ; Endoscopy, Digestive System ; Esophagus ; Female ; Glycosaminoglycans ; Humans ; Korea ; Manometry ; Subclavian Artery ; Thorax

Aged ; Aged, 80 and over ; Cervical Vertebrae ; abnormalities ; Esophagus ; Foreign Bodies ; complications ; Humans ; Male