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Communications Biology Sep 2023A molecular and functional link between neurotrophin signaling and cerebellar foliation is lacking. Here we show that constitutive knockout of two homologous genes...
A molecular and functional link between neurotrophin signaling and cerebellar foliation is lacking. Here we show that constitutive knockout of two homologous genes encoding the RNA binding protein RBM4 results in foliation defects at cerebellar lobules VI-VII and delayed motor learning in mice. Moreover, the features of Rbm4 double knockout (dKO), including impaired differentiation of cerebellar granule cells and dendritic arborization of Purkinje cells, are reminiscent of neurotrophin deficiency. Loss of RBM4 indeed reduced brain-derived neurotrophic factor (BDNF). RBM4 promoted the expression of BDNF and full-length TrkB, implicating RBM4 in efficient BDNF-TrkB signaling. Finally, prenatal supplementation with 7,8-dihydroxyflavone, a TrkB agonist, restored granule cell differentiation, Purkinje cell dendritic complexity and foliation-the intercrural fissure in particular-in the neonatal cerebellum of Rbm4dKO mice, which also showed improved motor learning in adulthood. This study provides evidence that prenatal activation of TrkB signaling ameliorates cerebellar malformation caused by BDNF deficiency.
Topics: Animals; Female; Mice; Pregnancy; Brain-Derived Neurotrophic Factor; Cell Differentiation; Cerebellum; Cytoplasmic Granules; Nervous System Malformations
PubMed: 37670183
DOI: 10.1038/s42003-023-05294-z -
Lin Chuang Er Bi Yan Hou Tou Jing Wai... Sep 2023By analyzing the clinical phenotypic characteristics and gene sequences of two patients with Treacher Collins syndrome(TCS), the biological causes of the disease...
By analyzing the clinical phenotypic characteristics and gene sequences of two patients with Treacher Collins syndrome(TCS), the biological causes of the disease were determined. Then discuss the therapeutic effect of hearing intervention after bone bridge implantation. All clinical data of the two family members were collected, and the patients signed the informed consent. The peripheral blood of the proband and family members was extracted, DNA was extracted for whole exome sequencing, and Sanger sequencing was performed on the family members for the mutation site.genetic mutations analysis was performed on the paitents. Then, the hearing threshold and speech recognition rate of family 2 proband were evaluated and compared under the sound field between bare ear and wearing bone bridge. In the two pedigrees, the probands of both families presented with auricle deformity, zygomatic and mandibular hypoplasia, micrognathia, hypotropia of the eye fissure, and hypoplasia of the medial eyelashes. The proband of Family 1 also presents with specific features including right-sided narrow anterior nasal aperture and dental hypoplasia, which were consistent with the clinical diagnosis of Treacher Collins syndrome. Genetic testing was conducted on both families, and two heterozygous mutations were identified in the gene: c. 1350_1351dupGG(p. A451Gfs*43) and c. 4362_4366del(p. K1457Efs*12), resulting in frameshift mutations in the amino acid sequence. Sanger sequencing validation of the gene in the parents of the proband in Family 1 did not detect any mutations. Proband 1 c. 1350_1351dupGG heterozygous variants have not been reported previously. The postoperative monosyllabic speech recognition rate of family 2 proband was 76%, the Categories of Auditory Performance(CAP) score was 6, and the Speech Intelligibility Rating(SIR) score was 4. Assessment using the Meaningful Auditory Integration Scale(MAIS) showed notable improvement in the patient's auditory perception, comprehension, and usage of hearing aids. Evaluation using the Glasgow Children's Benefit Inventory and quality of life assessment revealed significant improvements in the child's self care abilities, daily living and learning, social interactions, and psychological well being, as perceived by the parents. This study has elucidated the biological cause of Treacher Collins syndrome, enriched the spectrum of gene mutations in the Chinese population, and demonstrated that bone bridge implantation can improve the auditory and speech recognition rates in TCS patients.
Topics: Child; Humans; Mandibulofacial Dysostosis; Quality of Life; Speech; Parents; Mutation; Nuclear Proteins; Phosphoproteins
PubMed: 37640998
DOI: 10.13201/j.issn.2096-7993.2023.09.011 -
The Journal of Maternal-fetal &... Dec 2023Biallelic pathogenic variants in cause pontocerebellar hypoplasia type 7 (PCH7), a rare neurological condition characterized by psychomotor retardation, spastic...
Biallelic pathogenic variants in cause pontocerebellar hypoplasia type 7 (PCH7), a rare neurological condition characterized by psychomotor retardation, spastic paraplegia, seizures, gonadal abnormalities and brain anomalies. Currently, only 14 postnatally diagnosed PCH7 patients have been described. However, the prenatal clinical profile of PCH7 has not yet been reported. Whole-exome sequencing (WES) was performed to screen for causal variants. We report the pedigree of a Chinese woman with two eventful pregnancies with fetuses that showed brain anomalies, including microcephaly, cerebral anomalies, enlarged ventricles, corpus callosum thinning, abnormal lateral fissure, underdeveloped insula and pons and brainstem hypoplasia. Interestingly, corpus callosum thinning was observed in fetus 1 but not in fetus 2. An abnormal lateral fissure and an underdeveloped insula were shown in fetus 2 but not fetus 1. Biallelic variants c.716T > C (p.Phe239Ser) and c.955C > T (p.His319Tyr) in were identified in both fetuses. We first describe the prenatal features of a Chinese pedigree with PCH7 caused by biallelic pathogenic variants in , with phenotypic variability observed even within the same family. Novel phenotypes, an abnormal lateral fissure and an underdeveloped insula were observed in the fetus in our study. These findings will enrich our knowledge of the clinical characteristics, management and genetic counseling of PCH7.
Topics: Female; Humans; Pregnancy; Brain Diseases; Cerebellar Diseases; East Asian People; Nuclear Proteins; Pedigree; Prenatal Diagnosis
PubMed: 37635087
DOI: 10.1080/14767058.2023.2250895 -
Acta Bio-medica : Atenei Parmensis Aug 2023Accessory cardiac bronchus (ACB) has been described mainly as case reports finding (frequency 0.08%-0.39%). Even though 50% of all ACBs have a blind extremity, imaging...
Accessory cardiac bronchus (ACB) has been described mainly as case reports finding (frequency 0.08%-0.39%). Even though 50% of all ACBs have a blind extremity, imaging studies have demonstrated that some develop into a series of bronchioles with cystic degeneration or a ventilated lobule demarcated by an anomalous fissure and extremely rare with an abnormal pulmonary artery. In this case, ACB was demonstrated on several imaging methods arising from the intermediate bronchus's medial wall with correspondent blood vessels and fissure. Although an ACB is not a pathological entity and most patients with ACB are asymptomatic, it can become symptomatic due to recurrent infection, empyema, hemoptysis, and malignant transformation. In conclusion, both pulmonologists and radiologists should recognize normal bronchial anatomy and developmental bronchial anomalies, as these may be important to establish a correct diagnosis.
Topics: Humans; Bronchi; Radiologists
PubMed: 37606079
DOI: 10.23750/abm.v94iS1.14787 -
Cureus Jul 2023Ear tags or accessory auricles are branchial cleft remnants that clinically appear as asymptomatic nodules or papules in the preauricular region. They occur in various...
Ear tags or accessory auricles are branchial cleft remnants that clinically appear as asymptomatic nodules or papules in the preauricular region. They occur in various syndromes affecting the first and branchial arches during embryogenesis. The presence of an ear tag can have a psychological impact on one's life due to its unesthetic appearance, thereby affecting their quality of life. Talon cusp usually occurs in the maxillary central or lateral incisor. A fissured tongue or cerebriform tongue is characterized by the presence of horizontal or vertical grooves, usually affecting the dorsum of the tongue. Ankyloglossia or tongue-tie is a developmental anomaly in which the lingual frenum is abnormally attached to the ventral surface of the tongue. It can cause difficulties in breastfeeding in infants and in the pronunciation of certain vowels in adults. The concurrent occurrence of the ear tag along with the talon cusp in the mandibular second molar has not been reported in previous literature. We present a unique case of a 24-year-old non-syndromic individual with the concurrent occurrence of the ear tag along with a rare clinical occurrence of talon cusp in the mandibular second molar, fissured tongue, and ankyloglossia.
PubMed: 37602049
DOI: 10.7759/cureus.42095 -
Human Brain Mapping Nov 2023Although previous neuroimaging evidence has confirmed the brain functional disturbances in thyroid-associated ophthalmopathy (TAO), the dynamic characteristics of brain...
Although previous neuroimaging evidence has confirmed the brain functional disturbances in thyroid-associated ophthalmopathy (TAO), the dynamic characteristics of brain activity and functional connectivity (FC) in TAO were rarely concerned. The present study aims to investigate the alterations of temporal variability of brain activity and FC in TAO using resting-state functional magnetic resonance imaging (rs-fMRI). Forty-seven TAO patients and 30 age-, gender-, education-, and handedness-matched healthy controls (HCs) were enrolled and underwent rs-fMRI scanning. The dynamic amplitude of low-frequency fluctuation (dALFF) was first calculated using a sliding window approach to characterize the temporal variability of brain activity. Based on the dALFF results, seed-based dynamic functional connectivity (dFC) analysis was performed to identify the temporal variability of efficient communication between brain regions in TAO. Additionally, correlations between dALFF and dFC and the clinical indicators were analyzed. Compared with HCs, TAO patients displayed decreased dALFF in the left superior occipital gyrus (SOG) and cuneus (CUN), while showing increased dALFF in the left triangular part of inferior frontal gyrus (IFGtriang), insula (INS), orbital part of inferior frontal gyrus (ORBinf), superior temporal gyrus (STG) and temporal pole of superior temporal gyrus (TPOsup). Furthermore, TAO patients exhibited decreased dFC between the left STG and the right middle occipital gyrus (MOG), as well as decreased dFC between the left TPOsup and the right calcarine fissure and surrounding cortex (CAL) and MOG. Correlation analyses showed that the altered dALFF in the left SOG/CUN was positively related to visual acuity (r = .409, p = .004), as well as the score of QoL for visual functioning (r = .375, p = .009). TAO patients developed abnormal temporal variability of brain activity in areas related to vision, emotion, and cognition, as well as reduced temporal variability of FC associated with vision deficits. These findings provided additional insights into the neurobiological mechanisms of TAO.
Topics: Humans; Brain Mapping; Graves Ophthalmopathy; Quality of Life; Magnetic Resonance Imaging; Brain
PubMed: 37515416
DOI: 10.1002/hbm.26437 -
Asian Journal of Surgery Sep 2023In this study, we introduce a surgical procedure for multiple-quadrant hemorrhoid crisis, namely Lingnan surgery, and discuss its clinical efficacy and safety.
OBJECTIVE
In this study, we introduce a surgical procedure for multiple-quadrant hemorrhoid crisis, namely Lingnan surgery, and discuss its clinical efficacy and safety.
METHODS
We performed a retrospective analysis of patients with acute incarcerated hemorrhoids who underwent Lingnan surgery at the Anorectal Department of Yunan County Hospital of Traditional Chinese Medicine of Guangdong Province from 2017 to 2021. The baseline data, preoperative condition, and postoperative condition of each patient were recorded in detail.
RESULTS
A total of 44 patients were studied. There were no cases of massive hemorrhage, wound infection, wound nonunion, anal stenosis, abnormal anal defecation, recurrent anal fissure, or mucosal eversion within 30 days after surgery, and no recurrence of hemorrhoids and anal dysfunction occurred during the 6-month follow-up after surgery. The average operation time was 26.5 ± 6.2 min (17-43 min). The average length of hospital stay was 4.0 ± 1.2 days (2-7 days). In terms of postoperative analgesia, 35 patients took oral nimesulide, 6 did not use any analgesics, and 3 required nimesulide plus tramadol by injection. The mean Visual Analog Scale pain score was 6.8 ± 0.8 preoperatively and 2.9 ± 1.2, 2.0 ± 0.7, and 1.4 ± 0.6 at 1, 3, and 5 days postoperatively, respectively. The average basic activities of daily living score was 98.2 ± 2.6 (90-100) at discharge.
CONCLUSION
Lingnan surgery is easy to perform and has obvious curative effects, providing an alternative to conventional procedures for acute incarcerated hemorrhoids.
Topics: Humans; Hemorrhoids; Retrospective Studies; Activities of Daily Living; Treatment Outcome; Prisoners; Pain, Postoperative
PubMed: 37419805
DOI: 10.1016/j.asjsur.2023.06.066 -
Journal of Cardiothoracic Surgery Jul 2023Although case reports of video-assisted thoracic surgery (VATS) for pulmonary arteriovenous malformation (PAVM) have been published, studies analyzing more than 10 cases...
Retrospective single-arm cohort study of video-assisted thoracic surgery for treatment of idiopathic peripherally located simple type pulmonary arteriovenous malformation in 23 consecutive patients.
BACKGROUND
Although case reports of video-assisted thoracic surgery (VATS) for pulmonary arteriovenous malformation (PAVM) have been published, studies analyzing more than 10 cases were limited. A retrospective single-arm cohort study was performed to investigate the efficacy of VATS in 23 consecutive patients with idiopathic peripherally located simple type PAVM.
METHODS
VATS was performed for wedge resection of 24 PAVMs in 23 patients, which included 4 males and 19 females with an age range of 25 to 80 years (mean: 59.6 ± 13.0). Two patients underwent simultaneous resection of lung carcinoma, one by wedge resection and another by lobectomy. Each medical record was analyzed according to the resected specimen, bleeding volume, postsurgical hospital stay length, duration of chest tube placement, and VATS time. The distance between pleural surface/fissure and PAVM was measured on CT, and the influence of this distance on identification of PAVM was investigated.
RESULTS
In all 23 patients, VATS was successfully performed, and the venous sac was included in each resected specimen. Bleeding volume was less than 10mL in all but one with 1900 mL bleeding volume due to simultaneous lobectomy for carcinoma, not wedge resection of PAVM. Postsurgical hospital stay length, duration of chest tube placement, and VATS time were 5.0 ± 1.4 days, 2.7 ± 0.7 days, and 49.3 ± 39.9 min, respectively. In 21 PAVMs with a distance of 1 mm or less, purple vessel or pleural bulge of PAVM was identified soon after insertion of a thoracoscope. In the remaining 3 PAVMs with a distance of 2.5 mm or more, additional efforts were needed for identification.
CONCLUSION
VATS was found to be a safe and effective to treatment for idiopathic peripherally located simple type PAVM. When the distance between pleural surface/fissure and PAVM was 2.5 mm or more, a plan and strategy for identification of PAVM should be prepared before VATS.
Topics: Male; Female; Humans; Adult; Middle Aged; Aged; Aged, 80 and over; Thoracic Surgery, Video-Assisted; Retrospective Studies; Cohort Studies; Arteriovenous Malformations; Pneumonectomy; Treatment Outcome
PubMed: 37403112
DOI: 10.1186/s13019-023-02335-w