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Lin Chuang Er Bi Yan Hou Tou Jing Wai... May 2022To investigate the surgical approach of transnasal endoscopic resection of benign lesions in the paramedian lateral skull base. Retrospectively analyze 40 cases of the...
To investigate the surgical approach of transnasal endoscopic resection of benign lesions in the paramedian lateral skull base. Retrospectively analyze 40 cases of the clinical data of patients with benign lesions of the skull base from August 2018 to February 2021 with transnasal endoscopic surgery, including 9 cases of cholesteatoma, 6 cases of hemangioma, 1 case of hemangiopericytoma, 6 cases of schwannoma, 15 cases of sphenoid sinus lateral crypt meningocele and cerebrospinal fluid leak, 3 cases of nasopharyngeal carcinoma bone inflammation after radiotherapy. All patients underwent transnasal endoscopic surgery, and different surgical approaches were selected according to the lesion location. The total resection rate was 100% in 40 patients. One patient had cerebrospinal fluid rhinorrhea, which was cured after repair. During the follow-up period of 3-30 months, 39 patients had different degrees of numbness in the maxillary or mandibular region, and the numbness disappeared from 2 weeks to 6 months; one patient with schwannoma still had numbness on one side of the upper lip one year after surgery. Transnasal endoscopic resection of benign lesions in the paramedian skull base has a high surgical safety and cure rate. The surgical approach selection mainly focuses on the pterygoid process and extends to the periphery. The shortest and least damaging approach should be selected according to the lesion location, and the endoscopic approach should also be selected according to the surgeon's expertise.
Topics: Cerebrospinal Fluid Rhinorrhea; Humans; Hypesthesia; Neurilemmoma; Retrospective Studies; Skull Base
PubMed: 35483685
DOI: 10.13201/j.issn.2096-7993.2022.05.006 -
Anaesthesiology Intensive Therapy 2022Changes in the pressure of cuffed neonatal size tracheal tubes (TT) during anaesthesia without nitrous oxide are not well described. We determined whether the cuff...
BACKGROUND
Changes in the pressure of cuffed neonatal size tracheal tubes (TT) during anaesthesia without nitrous oxide are not well described. We determined whether the cuff pressure changes over time in neonates under general anaesthesia without nitrous oxide.
METHODS
The airways of thirty neonates were secured with a high volume low pressure cuffed TT for meningocele surgery. The cuff was manually inflated until there was no audible leak and maintained at 10-15 cm H2O throughout by monitoring the pressure continuously with both a manometer and a pressure transducer. At baseline, the cuff pressure was assessed in the supine and then prone positions. During surgery, if the pressure exceeded 15 cm H2O, the cuff was deflated to < 15 cm H2O and if it was < 10 cm H2O, the cuff was inflated to 10-15 cm H2O. The time interval between corrections and the number of corrections were recorded.
RESULTS
The cuff pressures in 18 neonates (60%) required correction during surgery. The cuff pressure exceeded 15 cm H2O in nine neonates (30%) and was corrected. The cuff pressures in 13 neonates were less than 10 cm H2O and required correction. The gender, weight, height, and duration of anaesthesia did not differ significantly between neonates who required correction of the cuff pressure and those who did not. Mean cuff pressures were similar at 15, 45, and 75 minutes of anaesthesia.
CONCLUSIONS
In 60% of neonates undergoing surgery in the prone position under general anaesthesia without nitrous oxide, the cuff pressure exceeded 15 cm H2O. In such cases, cuff pressure should be monitored continuously throughout the surgery.
Topics: Anesthesia, General; Humans; Infant, Newborn; Intubation, Intratracheal; Nitrous Oxide; Pressure; Respiration, Artificial
PubMed: 35416440
DOI: 10.5114/ait.2022.114485 -
Surgical Neurology International 2022Intrasacral occult sacral meningoceles (OSM) are uncommon congenital lesions that rarely become symptomatic, even over a patient's life time.
BACKGROUND
Intrasacral occult sacral meningoceles (OSM) are uncommon congenital lesions that rarely become symptomatic, even over a patient's life time.
METHODS
We operated on six patients with symptomatic OSM diagnosed on MR studies (all six) and/or CT examinations (four cases).
RESULTS
All six patients had uneventful postoperative recoveries. Nevertheless, despite the resolution of low back pain and radiculopathy, preoperative bladder dysfunction improved postoperatively in only one patient.
CONCLUSION
Few cases of patients undergoing surgery for symptomatic OSM are reported in the literature. Here, we recount our experience with six patients with symptomatic OSM who demonstrated significant postoperative neurological recoveries except for rare improvement in bladder function.
PubMed: 35399876
DOI: 10.25259/SNI_1258_2021 -
Journal of Magnetic Resonance Imaging :... Sep 2022Idiopathic intracranial hypertension (IIH) is a disorder characterized by elevated intracranial pressure (ICP) that predominantly affects young obese women. IIH is a... (Review)
Review
Idiopathic intracranial hypertension (IIH) is a disorder characterized by elevated intracranial pressure (ICP) that predominantly affects young obese women. IIH is a diagnosis of exclusion. That is, if increased ICP is suspected, magnetic resonance imaging and magnetic resonance venography of the brain are recommended to exclude secondary causes. Imaging findings, such as empty sella, orbital findings, meningocele, and encephalocele, are not diagnostic of ICP, nor does their absence exclude ICP either. Therefore, venous manometry is recommended as the gold standard for evaluation, regardless of previous anatomic imaging results. Venous manometry is an invasive examination that is frequently applied to derive physiologic information concerning the nature of the pressure gradient. However, the pathogenesis of IIH has not been fully elucidated. The presence of venous sinus stenosis in a subset of patients has provided some support for the potential mechanisms underlying this condition. Hence, this review provides an up-to-date discussion on the potential pathogenic mechanisms of IIH with a special focus on venous sinus stenosis. LEVEL OF EVIDENCE: 1 TECHNICAL EFFICACY STAGE: 2.
Topics: Constriction, Pathologic; Cranial Sinuses; Female; Humans; Intracranial Hypertension; Phlebography; Pseudotumor Cerebri; Stents; Vascular Diseases
PubMed: 35357056
DOI: 10.1002/jmri.28177 -
Molecular Genetics & Genomic Medicine May 2022Meckel syndrome (MKS) is a fatal disease characterized by multisystem fibrosis during the prenatal or perinatal period. It has an autosomal recessive genetic pattern and...
BACKGROUND
Meckel syndrome (MKS) is a fatal disease characterized by multisystem fibrosis during the prenatal or perinatal period. It has an autosomal recessive genetic pattern and is characterized by meningo occipital encephalocele, polycystic kidney dysplasia, polydactyly, and hepatobiliary ductal plate malformation. Germline variations in CEP290 have been shown to cause MKS4.
METHODS
In this study, a 23-year-old Chinese woman who was 18 weeks pregnant was examined. The pregnancy was terminated due to occipital meningocele and enlarged cystic dysplastic kidney revealed by ultrasonography. In addition, the patient had a history of adverse pregnancy whereby the fetus presented with double kidney enlargement. Karyotype analysis and chromosomal microarray examination (CMA) were carried out using amniotic fluid samples. Whole exome sequencing (WES) was performed using tissue specimens of the aborted fetus.
RESULTS
Karyotype and CMA analyses showed normal results. However, compound heterozygous mutations of CEP290 c.3175dup and CEP290 c.1201dup were detected through WES. CEP290 c.1201dup is a novel heterozygous mutation of CEP290 that has not been reported previously.
CONCLUSIONS
The findings of this study provide information on the correlation between MKS phenotype and genotype in CEP290. In addition, these findings indicate that WES is an effective method for detecting genetic causes of multiple structural defects especially those showing normal karyotype and CMA results.
Topics: Antigens, Neoplasm; Cell Cycle Proteins; Ciliary Motility Disorders; Cytoskeletal Proteins; Encephalocele; Female; Humans; Male; Polycystic Kidney Diseases; Pregnancy; Retinitis Pigmentosa; Exome Sequencing
PubMed: 35352487
DOI: 10.1002/mgg3.1935 -
BMJ Case Reports Mar 2022Diastematomyelia is the asymmetric or symmetric lateral duplication of the spinal cord into two hemicords. Pang divided it into three types: type-1, type-2 and composite...
Diastematomyelia is the asymmetric or symmetric lateral duplication of the spinal cord into two hemicords. Pang divided it into three types: type-1, type-2 and composite split cord malformation (SCM). Composite SCMs are uncommon and are defined by the coexistence of multiple types of split cord with normal cord in between. When partially bridged, they are called a horseshoe cord. We report a case of a young woman who presented with backache and was diagnosed with composite SCM with horseshoe cord and type-2 SCM with intervening normal cord. In our case, 3D-SPACE due to its superior topographical evaluation, allowed us to visualise and characterise the thin meningocoele manque bands and detect horseshoe cords, asymmetric cords and demarcate the precise extent of syrinx, which were suboptimally imaged on isolated T2 and T1WI sequences. If left untreated during surgery, bands can be the potential cause for persistent backache.
Topics: Back Pain; Female; Humans; Magnetic Resonance Imaging; Meningocele; Meningomyelocele; Neural Tube Defects
PubMed: 35351760
DOI: 10.1136/bcr-2021-248615 -
Zhongguo Yi Xue Ke Xue Yuan Xue Bao.... Feb 2022Objective To analyze the disease spectrum and clinicopathological characteristics of central nervous system(CNS)diseases diagnosed based on pathological findings in...
Objective To analyze the disease spectrum and clinicopathological characteristics of central nervous system(CNS)diseases diagnosed based on pathological findings in Tibet. Methods We collected the data of all the cases with CNS lesions in Tibet Autonomous Region People's Hospital from January 2013 to December 2020.The clinicopathological features were analyzed via light microscopy,immunohistochemical staining,and special staining. Results A total of 383 CNS cases confirmed by pathological diagnosis were enrolled in this study,with a male-to-female ratio of 188∶195 and an average age of(40.03±17.39)years(0-74 years).Among them,127(33.2%)cases had non-neoplastic diseases,with a male-to-female ratio of 82∶45 and an average age of(31.99±19.29)years;256(66.8%)cases had neoplastic diseases,with a male-to-female ratio of 106∶150 and an average age of(44.01±14.87)years.The main non-neoplastic diseases were nervous system infectious diseases,cerebral vascular diseases,meningocele,cerebral cyst,and brain trauma.Among the infectious diseases,brain abscess,granulomatous inflammation,cysticercosis,and hydatidosis were common.The main neoplastic diseases included meningioma,pituitary adenoma,neuroepithelial tumor,schwannoma,metastatic tumor,and hemangioblastoma.The meningioma cases consisted of 95.4%(103/108)cases of grade Ⅰ,3.7%(4/108)cases of grade Ⅱ,and only 1(1/108,0.9%)case of grade Ⅲ.Among the neuroepithelial tumor cases,the top three were glioblastoma,grade Ⅲ diffuse glioma,and ependymoma. Conclusions There are diverse CNS diseases confirmed by pathological diagnosis in Tibet,among which non-neoplastic diseases account for 1/3 of all the cases.Infectious and vascular diseases are the most common non-neoplastic diseases in Tibet,and tuberculosis and parasitic infections are relatively common.The types and proportion of brain tumors in Tibet are different from those in other regions of China,and meningioma is the most common in Tibet,with higher proportion than neuroepithelial tumor.
Topics: Adolescent; Adult; Aged; Brain Neoplasms; Central Nervous System Diseases; Child; Child, Preschool; Ependymoma; Female; Humans; Infant; Infant, Newborn; Male; Meningeal Neoplasms; Middle Aged; Retrospective Studies; Tibet; Young Adult
PubMed: 35300761
DOI: 10.3881/j.issn.1000-503X.14061 -
Birth Defects Research Apr 2022Sacral agenesis (SA) consists of partial or complete absence of the caudal end of the spine and often presents with additional birth defects. Several studies have...
BACKGROUND
Sacral agenesis (SA) consists of partial or complete absence of the caudal end of the spine and often presents with additional birth defects. Several studies have examined gene variants for syndromic forms of SA, but only one has examined exomes of children with non-syndromic SA.
METHODS
Using buccal cell specimens from families of children with non-syndromic SA, exomes of 28 child-parent trios (eight with and 20 without a maternal diagnosis of pregestational diabetes) and two child-father duos (neither with diagnosis of maternal pregestational diabetes) were exome sequenced.
RESULTS
Three children had heterozygous missense variants in ID1 (Inhibitor of DNA Binding 1), with CADD scores >20 (top 1% of deleterious variants in the genome); two children inherited the variant from their fathers and one from the child's mother. Rare missense variants were also detected in PDZD2 (PDZ Domain Containing 2; N = 1) and SPTBN5 (Spectrin Beta, Non-erythrocytic 5; N = 2), two genes previously suggested to be associated with SA etiology. Examination of variants with autosomal recessive and X-linked recessive inheritance identified five and two missense variants, respectively. Compound heterozygous variants were identified in several genes. In addition, 12 de novo variants were identified, all in different genes in different children.
CONCLUSIONS
To our knowledge, this is the first study reporting a possible association between ID1 and non-syndromic SA. Although maternal pregestational diabetes has been strongly associated with SA, the missense variants in ID1 identified in two of three children were paternally inherited. These findings add to the knowledge of gene variants associated with non-syndromic SA and provide data for future studies.
Topics: Abnormalities, Multiple; Exome; Humans; Infant; Meningocele; Sacrococcygeal Region
PubMed: 35274497
DOI: 10.1002/bdr2.1987 -
BMJ Case Reports Mar 2022
Topics: Cerebrospinal Fluid Rhinorrhea; Decompression, Surgical; Humans; Meningocele; Paresis; Seizures; Skull
PubMed: 35264396
DOI: 10.1136/bcr-2022-249345