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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 -
European Journal of Pediatric Surgery :... Aug 2023The objective of this study is to summarize the clinical characteristics and management of rare diseases of colorectal vascular malformation (CRVM) in children.
INTRODUCTION
The objective of this study is to summarize the clinical characteristics and management of rare diseases of colorectal vascular malformation (CRVM) in children.
METHODS
We retrospectively analyzed the clinical data of CRVM patients admitted to the Children's Hospital of Fudan University from 2004 to 2019.
RESULTS
A total of 23 cases (16 males, 7 females) were enrolled. The median age of symptom onset was 1.4 years. Hematochezia and anemia were cardinal symptoms. Fourteen patients (60.9%) were misdiagnosed as anal fissures ( = 4), internal hemorrhoids ( = 3), rectal polyps ( = 2), inflammatory bowel disease ( = 2), portal hypertension ( = 2), and Meckel's diverticulum ( = 1), respectively. The average time from symptom onset to diagnosis was 4.5 ± 4.4 years. Other vascular malformations were detected in eight patients (34.8%). All patients showed a positive anomalous vascular image on contrast-enhanced computed tomography (CT) or magnetic resonance imaging (MRI). The sensitivity of colonoscopy in the diagnosis of CRVM was 82.6% (19/23). A total of 21 patients underwent a modified Soave procedure. The lesions were mostly restricted to the colorectum and showed transmural diffuse distribution, with an average length of 20 ± 5.4 cm. Two patients (9.5%) experienced surgical complications. Bloody stools reappeared in two patients (9.5%), and colonoscopy showed abnormal angiogenesis at the anastomotic site, which were cured by sclerotherapy and/or electrocautery. The median follow-up time was 78 months. Bloody stools were absent at the last time of follow-up, and hemoglobin was in the normal range for all patients.
CONCLUSION
The identification of CRVM in children often is delayed. Colonoscopy, CT, and MRI are essential in making the correct diagnosis. The modified Soave procedure is safe and feasible to treat CRVM in children. Endoscopic sclerotherapy and/or electrocautery can be used for residual lesions.
Topics: Male; Female; Humans; Child; Infant; Retrospective Studies; Gastrointestinal Hemorrhage; Colonoscopy; Vascular Malformations; Colorectal Neoplasms
PubMed: 35963243
DOI: 10.1055/s-0042-1751222 -
Journal of Neurosurgery. Case Lessons Dec 2023Arachnoid cysts (ACs) are congenital abnormalities that can be located anywhere within the subarachnoid space along the cerebrospinal axis, although they are most often...
BACKGROUND
Arachnoid cysts (ACs) are congenital abnormalities that can be located anywhere within the subarachnoid space along the cerebrospinal axis, although they are most often found on the left side in the temporal fossa and sylvian fissure. ACs comprise approximately 1% of all intracranial space-occupying lesions and are considered potential risk factors for subdural hematoma (SDH) in individuals of all age groups who have experienced traumatic brain injury. Although it is uncommon for an intracystic hemorrhage of an AC to occur without evidence of head trauma, it may be more common among children and young adults. Here, the authors present three cases of spontaneous AC intracystic hemorrhage with chronic SDH. Additionally, they provide a thorough review of the existing literature.
OBSERVATIONS
All three patients with AC were adolescent males. In all cases, AC was identified using the Galassi classification (type II or III) and associated with spontaneous intracystic hemorrhage and chronic SDH as seen on imaging.
LESSONS
Spontaneous intracystic hemorrhage is a rare complication and occurs most commonly on the left side. Surgery is the definitive treatment, requiring either craniotomy or burr hole for hematoma evacuation and microsurgical fenestration to drain the cyst into the subarachnoid cisterns.
PubMed: 38145564
DOI: 10.3171/CASE23544 -
Cureus Apr 2024Background The liver, being the largest internal organ of the body shows a variety of gross morphological variations about lobes, fissures and processes which may be...
Background The liver, being the largest internal organ of the body shows a variety of gross morphological variations about lobes, fissures and processes which may be clinically significant. Among various anatomical variations, the most found is the variant fissure for ligamentum teres hepatis. The present study was done to classify, review, compare and discuss the literature for anomalies in fissures for ligamentum teres hepatis. Methods A total of 100 formalin-preserved human livers were obtained from the Department of Anatomy of King George's Medical University, Lucknow, and studied for one year. Result In our study, 15% of the liver showed morphological variations in fissures for ligamentum teres hepatis. These were classified into four types. In type I (2%), the fissure was converted into a tunnel by pons hepatis. In type II (3%), there was an incomplete fissure for ligamentum teres hepatis extending into the diaphragmatic surface. In type III (4%), there was an incomplete fissure for ligamentum teres hepatis present only on the visceral surface. In type IV (6%), the fissure was covered by a thin membrane. Conclusion In this study of the North Indian population, 15% of liver have gross morphological variations. So thorough anatomical knowledge of the existence of variant or abnormal surface features on the liver is imperative to understanding the underlying pathology for radiologists and surgeons so that a favorable outcome can be achieved.
PubMed: 38800262
DOI: 10.7759/cureus.58984 -
Case Reports in Genetics 2023There is evidence that neurodevelopmental disorders are associated with chromosomal abnormalities. Current genetic testing can clinch an exact diagnosis in 20-25% of...
INTRODUCTION
There is evidence that neurodevelopmental disorders are associated with chromosomal abnormalities. Current genetic testing can clinch an exact diagnosis in 20-25% of such cases. A 3 years and 11 months old boy with global developmental delay had repetitive behaviors and hyperkinetic movements. He was stunted and underweight. He had ataxia, limb dyskinesia, triangular face, microcephaly, upward slanting palpebral fissure, hypertelorism, retrognathia, posteriorly rotated ears, long philtrum, thin lips, broad nasal tip, polydactyly, tappering fingers, and decreased tone in the upper and lower limbs with normal deep tendon reflexes. Magnetic resonance imaging of the brain, ultrasound of the abdomen, and ophthalmological evaluation were normal. Brain evoked response auditory revealed bilateral moderate hearing loss. He fulfilled the Diagnostic Statistical Manual 5 criteria for autism. In the Vineland Social Maturity Scale, his score indicated a severe delay in social functioning. His genetic evaluation included karyotyping, fluorescence in situ hybridization (FISH), and chromosomal microarray analysis (CMA). The karyotype report from high-resolution lymphocyte cultures was mos 46, XY, der(3)t(3; 5)(p26; p15.3)[50]/46, XY,der(5) t(3;5) (p26;p15.3)[50].ish. His karyotype report showed a very rare and abnormal mosaic pattern with two cell lines (50% each). Cell-line#1: 3pter deletion with 5pter duplication (3pter-/5pter+) and cell-line#2: 3pter duplication with 5pter deletion (3pter+/5pter-) derived from a reciprocal translocation t(3; 5)(p26; p15.3) which was confirmed by FISH. The chromosomal microarray analysis report was normal. The two cell lines (50% each) seem to have balanced out at the whole genome level. Occupational, sensory integration, and behavior modification therapy were initiated for his autistic features, and anticholinergic trihexiphenidyl was prescribed for hyperkinetic movements.
CONCLUSION
This case highlights a rare genetic finding and the need for timely genetic testing in a child with dysmorphism and autism with movement disorder to enable appropriate management and genetic counselling.
PubMed: 37876589
DOI: 10.1155/2023/7974886 -
Journal of Ayub Medical College,... 2023Optic disc pits are hypothesized to form because of failure of embryonic fissure closure, which can also present with congenital defects in the choroid, RPE, and... (Review)
Review
Optic disc pits are hypothesized to form because of failure of embryonic fissure closure, which can also present with congenital defects in the choroid, RPE, and neurosensory retina. It is also associated with serous macular detachment. We present a case report of a 32-year-old man with an optic disc pit and independent choroidal coloboma below the inferior peripapillary area in the left eye, associated with macular retinoschisis with serous detachment.
Topics: Adult; Humans; Male; Coloboma; Eye Abnormalities; Optic Disk; Retinal Detachment; Retinoschisis
PubMed: 38404105
DOI: 10.55519/JAMC-03-11574 -
Molecular Genetics & Genomic Medicine Jan 2024Kabuki syndrome 1 (KS1; OMIM:147920), which is characterized by distinctive dysmorphic facial features (such as arched eyebrows, long palpebral fissures with eversion of...
BACKGROUND
Kabuki syndrome 1 (KS1; OMIM:147920), which is characterized by distinctive dysmorphic facial features (such as arched eyebrows, long palpebral fissures with eversion of the lower lid, and large protuberant ears), intellectual disability, short stature, and dermatoglyphic and skeletal abnormalities, is brought on by pathogenic variants in KMT2D (OMIM:602113). In this work, three individuals with novel pathogenic KMT2D gene variants had their longitudinal audiological manifestations and ear structural characteristics outlined.
METHODS
The longitudinal audiological data from neonatal hearing screening and a battery of several hearing tests were evaluated. The battery of hearing tests included tympanometry, distortion product otoacoustic emission (DPOAE), click-evoked air-conduction auditory brain-stem response (AC-ABR), click-evoked bone-conduction auditory brain-stem response (BC-ABR), narrow band CE-chirp auditory steady-state response (NB CE-chirp ASSR), and pure-tone audiometry (PTA). Phenotype identification and whole exome sequencing (WES) were performed on recruited individuals.
RESULTS
All three patients (two females and on male; last evaluations at 14 months, 11 months, and 5.7 years, respectively) failed the newborn hearing screening, and the audiological follow-up data revealed mild to profound fluctuating hearing loss, which was directly influenced by the incidence and severity of otitis media with effusion (OME). When OME occurred, the AC-ABR thresholds increased from 30-75 dBnHL to 45-90 dBnHL. The threshold for the BC-ABR and BC-PTA was between 25 and 50 dBnHL, indicating mild to moderate sensorineural hearing loss (SNHL). The high-resolution computed tomography (HRCT) pictures indicated that all three patients had middle and inner ear abnormalities. Middle ear anomalies showed as diminished mastoid gasification and ossicle dysplasia. Cochlear dysplasia, a dilated vestibule, fusion of the vestibule with the horizontal semicircular canals, and a short and thick horizontal semicircular canal were visible on images of the inner ear. This study recruited three individuals with three novel pathogenic variants (c.5104C>T, c.10205delA, and c.12840delC) of KMT2D who were identified at ages 27 days, 2 months, and 5.5 years.
CONCLUSIONS
Hearing characteristics of three individuals with three novel pathogenic variants of KMT2D range from mild to profound fluctuating hearing loss with mild to moderate SNHL. HRCT scans showed that all three individuals had anatomical middle and inner ear abnormalities. KS 1 patients must get clinical therapy for OME, frequent auditory monitoring, and prompt intervention.
Topics: Infant, Newborn; Female; Humans; Male; Hearing; Hearing Tests; Abnormalities, Multiple; Hearing Loss; Face; Hematologic Diseases; Vestibular Diseases
PubMed: 37921229
DOI: 10.1002/mgg3.2306 -
Human Genomics Apr 2024Congenital ichthyosis (CI) is a collective group of rare hereditary skin disorders. Patients present with epidermal scaling, fissuring, chronic inflammation, and... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Congenital ichthyosis (CI) is a collective group of rare hereditary skin disorders. Patients present with epidermal scaling, fissuring, chronic inflammation, and increased susceptibility to infections. Recently, there is increased interest in the skin microbiome; therefore, we hypothesized that CI patients likely exhibit an abnormal profile of epidermal microbes because of their various underlying skin barrier defects. Among recruited individuals of Southeast Asian ethnicity, we performed skin meta-genomics (i.e., whole-exome sequencing to capture the entire multi-kingdom profile, including fungi, protists, archaea, bacteria, and viruses), comparing 36 CI patients (representing seven subtypes) with that of 15 CI age-and gender-matched controls who had no family history of CI.
RESULTS
This case-control study revealed 20 novel and 31 recurrent pathogenic variants. Microbiome meta-analysis showed distinct microbial populations, decreases in commensal microbiota, and higher colonization by pathogenic species associated with CI; these were correlated with increased production of inflammatory cytokines and Th17- and JAK/STAT-signaling pathways in peripheral blood mononuclear cells. In the wounds of CI patients, we identified specific changes in microbiota and alterations in inflammatory pathways, which are likely responsible for impaired wound healing.
CONCLUSIONS
Together, this research enhances our understanding of the microbiological, immunological, and molecular properties of CI and should provide critical information for improving therapeutic management of CI patients.
Topics: Humans; Case-Control Studies; Leukocytes, Mononuclear; Southeast Asian People; Inflammation; Microbiota; Ichthyosis
PubMed: 38627868
DOI: 10.1186/s40246-024-00603-x -
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 Pain Research 2024Previous studies have reported mixed results regarding the importance of cortical abnormalities in patients with migraines. However, cortical sulci, as a component of...
PURPOSE
Previous studies have reported mixed results regarding the importance of cortical abnormalities in patients with migraines. However, cortical sulci, as a component of the cerebral cortex, have not been specifically investigated in migraine patients. Therefore, we aim to evaluate alterations in cortical sulcal morphology among patients with chronic migraine (CM), episodic migraine (EM), and healthy controls (HCs).
PATIENTS AND METHODS
In this cross-sectional study, structural magnetic resonance images were acquired from 35 patients with CM, 35 with EM, and 35 HCs. Cortical sulci were identified and reconstructed using the BrainVisa 5.0.4 software. We focused on regions involved in pain processing in which abnormal cortical structure were identified in previous neuroimaging studies. Morphometric analysis was performed to calculate sulcal parameters including mean depth, cortical thickness, and opening width. Partial correlation analyses of clinical characteristics and sulcal parameters were performed for CM, EM and the combined migraine (CM + EM) groups.
RESULTS
In comparison with HCs, both CM and EM groups showed increased opening width in bilateral insula. In comparison with HC and EM groups, CM patients showed increased cortical thickness in bilateral superior postcentral sulcus, bilateral median frontal sulcus and left superior parietal sulcus, as well as increased mean depth in the left anterior callosomarginal fissure and decreased mean depth in bilateral superior frontal sulcus and left median frontal sulcus. Migraine frequency and disease duration were both correlated with cortical thickness in bilateral superior postcentral sulcus.
CONCLUSION
Abnormal sulcal morphometry primarily affected areas associated with pain processing in patients with migraine, with CM exhibiting more extensive abnormalities in areas related to sensory and affective processing. These changes may contribute to understanding the pathology of EM and CM.
PubMed: 38318330
DOI: 10.2147/JPR.S447148