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Scientific Reports Feb 2019Incomplete fusion of the optic fissure leads to ocular coloboma, a congenital eye defect that affects up to 7.5 per 10,000 births and accounts for up to 10 percent of...
Incomplete fusion of the optic fissure leads to ocular coloboma, a congenital eye defect that affects up to 7.5 per 10,000 births and accounts for up to 10 percent of childhood blindness. The molecular and cellular mechanisms that facilitate optic fissure fusion remain elusive. We have profiled global gene expression during optic fissure morphogenesis by transcriptome analysis of tissue dissected from the margins of the zebrafish optic fissure and the opposing dorsal retina before (32 hours post fertilisation, hpf), during (48 hpf) and after (56 hpf) optic fissure fusion. Differential expression analysis between optic fissure and dorsal retinal tissue resulted in the detection of several known and novel developmental genes. The expression of selected genes was validated by qRT-PCR analysis and localisation investigated using in situ hybridisation. We discuss significantly overrepresented functional ontology categories in the context of optic fissure morphogenesis and highlight interesting transcripts from hierarchical clustering for subsequent analysis. We have identified netrin1a (ntn1a) as highly differentially expressed across optic fissure fusion, with a resultant ocular coloboma phenotype following morpholino antisense translation-blocking knockdown and downstream disruption of atoh7 expression. To support the identification of candidate genes in human studies, we have generated an online open-access resource for fast and simple quantitative querying of the gene expression data. Our study represents the first comprehensive analysis of the zebrafish optic fissure transcriptome and provides a valuable resource to facilitate our understanding of the complex aetiology of ocular coloboma.
Topics: Animals; Cluster Analysis; Coloboma; DNA-Binding Proteins; Disease Models, Animal; Embryo, Nonmammalian; Gene Expression Profiling; In Situ Hybridization, Fluorescence; Morpholinos; Netrin-1; Principal Component Analysis; Retina; Transcriptome; Zebrafish; Zebrafish Proteins
PubMed: 30733552
DOI: 10.1038/s41598-018-38379-5 -
The Neuroradiology Journal Dec 2021Sylvian fissure arteriovenous malformations are rare but important vascular lesions, whose importance lies in both haemorrhage and seizure risk. Although surgery has...
BACKGROUND
Sylvian fissure arteriovenous malformations are rare but important vascular lesions, whose importance lies in both haemorrhage and seizure risk. Although surgery has been recommended as a treatment, the overall estimation of success has not been reported to render outcomes easier to understand in comparison to other treatment modalities.
OBJECTIVES
This systematic review of the literature and two cases aims to illustrate the results of surgery as a contemporary treatment option and present a novel anatomical classification system for Sylvian fissure arteriovenous malformations.
MATERIALS AND METHODS
A systematic review was performed by searching MEDLINE (PubMed), EMBASE and Cochrane electronic bibliographic databases from conception to 2018. The following keywords were used: 'Sylvian fissure' AND 'AVM' OR 'arteriovenous malformation' OR 'intracranial arteriovenous malformation' OR 'cerebral arteriovenous malformation' OR 'brain arteriovenous malformation'. The search strategy was not limited by study design but only included keywords in the English language. In addition, two local institution Sylvian fissure arteriovenous malformations are presented and incorporated.
RESULTS
A total of nine full-text articles were included in the analysis. The results of reported cases and the literature review emphasise the role of surgery in the treatment of Sylvian fissure arteriovenous malformations, with an acceptable result in carefully selected patients. We propose a classification system which may inform the choice of surgical approach for these lesions.
CONCLUSIONS
Surgery remains the cornerstone of Sylvian fissure arteriovenous malformation treatment, which may apply to high-grade lesions in this special anatomical location.
Topics: Brain; Cerebral Cortex; Humans; Intracranial Arteriovenous Malformations; Seizures; Treatment Outcome
PubMed: 34086491
DOI: 10.1177/19714009211021776 -
The Pan African Medical Journal 2018Congenital ocular colobomas are due to incomplete closure of the fetal fissure during organogenesis. Ocular involvement can be variable ranging from a simple hole in the...
Congenital ocular colobomas are due to incomplete closure of the fetal fissure during organogenesis. Ocular involvement can be variable ranging from a simple hole in the iris to a more severe involvement of the posterior pole (coloboma of the optic nerve, of the choroid, of the retina). We here report the case of a typical isolated bilateral iris coloboma. The study involved a 55-year old woman who discovered a typical inferonasal iris coloboma without involvement of the crystalline or of the posterior pole on ophthalmologic examination.
Topics: Coloboma; Female; Humans; Iris; Iris Diseases
PubMed: 30123404
DOI: 10.11604/pamj.2018.30.1.14505 -
Annals of the Royal College of Surgeons... Mar 2012Faecal concretions or faecalomas ('stone of faeces') are symptomatic of many well-recognised colorectal conditions. Faecalomas are usually located in the colon or rectum... (Review)
Review
INTRODUCTION
Faecal concretions or faecalomas ('stone of faeces') are symptomatic of many well-recognised colorectal conditions. Faecalomas are usually located in the colon or rectum and associated with disorders of colorectal transit. We describe an unusual case of 'faecaloma in ano' secondary to a chronic fissure in ano. A 67-year-old woman with a 10-year history of chronic constipation and intermittent anal discomfort presented with a painless perianal lump of similar duration.
METHODS
The patient's case notes were reviewed and a literature search was carried out.
RESULTS
Examination under anaesthesia, sigmoidoscopy and anoscopy did not reveal any mucosal abnormality or an internal opening or any connection with the perianal lump. The mass was enucleated after incising the skin, leaving behind a cavity completely separate from the anal canal and sphincters. Histology revealed inspissated faecal material with evidence of calcification.
CONCLUSIONS
Chronic fissures may be complicated by sepsis and, rarely, a 'fissure fistula' may develop. We suspect that this was the underlying pathogenesis of this 'faecaloma in ano'. The term faecaloma in ano befits the clinical picture.
Topics: Aged; Chronic Disease; Constipation; Fecal Impaction; Female; Fissure in Ano; Humans
PubMed: 22391354
DOI: 10.1308/003588412X13171221501069 -
Survey of Ophthalmology 2022Uveal coloboma is a condition defined by missing ocular tissues and is a significant cause of childhood blindness. It occurs from a failure of the optic fissure to close... (Review)
Review
Uveal coloboma is a condition defined by missing ocular tissues and is a significant cause of childhood blindness. It occurs from a failure of the optic fissure to close during embryonic development and may lead to missing parts of the iris, ciliary body, retina, choroid, and optic nerve. Because there is no treatment for coloboma, efforts have focused on prevention. While several genetic causes of coloboma have been identified, little definitive research exists regarding the environmental causes of this condition. We review the current literature on environmental factors associated with coloboma in an effort to guide future research and preventative counseling related to this condition.
Topics: Choroid; Coloboma; Female; Humans; Pregnancy; Retina
PubMed: 34979194
DOI: 10.1016/j.survophthal.2021.12.008 -
American Journal of Human Genetics Sep 1983Phenotypic, karyotypic, and developmental homology between affected children of carriers of an inverted insertion (9) (q22.1q34.3q34.1) led to recognition of a new...
Phenotypic, karyotypic, and developmental homology between affected children of carriers of an inverted insertion (9) (q22.1q34.3q34.1) led to recognition of a new chromosome syndrome: dup 9q34. Individuals with dup 9q34 have slight psychomotor retardation, understand simple directions, and acquire a limited vocabulary. In childhood, many are hyperactive. Clinical features include low birth weight, normal birth length, and initial poor feeding and thriving. Musculo-skeletal systems are affected: there are joint contractures, long thin limbs, and striking arachnodactyly. There is abnormal implantation of the thumb, increased space between the first and second fingers, and excess digital creases. Marfan syndrome was a provisional diagnosis for several cases prior to cytogenetic analysis. Cardiovascular and ocular systems are minimally affected, erythema and heart murmurs occur, and ptosis and strabismus are frequent, but lens dislocation is not observed. Features at birth include: dolichocephaly, facial asymmetry, narrow horizontal palpebral fissures, microphthalmia, prominent nasal bridge, small mouth, thin upper lip with down-turned corners, and slight retrognathia. In older children, retrognathia is diminished and the nose becomes long and narrow. The new culture and chromosome banding techniques enable sorting of cases with the distal dup 9q phenotype into two groups. The cases with a longer dup 9q are more likely to develop with life-threatening congenital anomalies. The cases with the shorter dup 9q34 have a less severe long-term prognosis and will benefit, together with their parents, from special education. Female carriers of the inv ins(9) (q22.1q34.3q34.1) have about a 31% risk in each pregnancy to conceive a fetus affected by the dup 9q34 syndrome. A comparable figure is not yet available for male carriers.
Topics: Abnormalities, Multiple; Adolescent; Adult; Child; Chromosome Aberrations; Chromosome Banding; Chromosome Inversion; Chromosomes, Human, 6-12 and X; Consanguinity; Female; Heterozygote; Humans; Infant, Newborn; Karyotyping; Male; Middle Aged; Newfoundland and Labrador; Pedigree; Psychomotor Disorders; Risk; Syndrome
PubMed: 6613995
DOI: No ID Found -
Genes Dec 2023Nager syndrome is a rare human developmental disorder characterized by craniofacial defects including the downward slanting of the palpebral fissures, cleft palate, limb... (Review)
Review
Nager syndrome is a rare human developmental disorder characterized by craniofacial defects including the downward slanting of the palpebral fissures, cleft palate, limb deformities, mandibular hypoplasia, hypoplasia or absence of thumbs, microretrognathia, and ankylosis of the temporomandibular joint. The prevalence is very rare and the literature describes only about a hundred cases of Nager syndrome. There is evidence of autosomal dominant and autosomal recessive inheritance for Nager syndrome, suggesting genetic heterogeneity. The majority of the described causes of Nager syndrome include pathogenic variants in the gene, which encodes a component of the spliceosome; therefore, the syndrome belongs to the spliceosomopathy group of diseases. The diagnosis is made on the basis of physical and radiological examination and detection of mutations in the gene. Due to the diversity of defects associated with Nager syndrome, patients require multidisciplinary, complex, and long-lasting treatment. Usually, it starts from birth until the age of twenty years. The surgical procedures vary over a patient's lifetime and are related to the needed function. First, breathing and feeding must be facilitated; then, oral and facial clefts should be addressed, followed by correcting eyelid deformities and cheekbone reconstruction. In later age, a surgery of the nose and external ear is performed. Speech and hearing disorders require specialized logopedic treatment. A defect of the thumb is treated by transplanting a tendon and muscle or transferring the position of the index finger. In addition to surgery, in order to maximize a patient's benefit and to reduce functional insufficiency, complementary treatments such as rehabilitation and physiotherapy are recommended. In our study, we describe eight patients of different ages with various cases of Nager syndrome. The aim of our work was to present the actual genetic knowledge on this disease and its treatment procedures.
Topics: Child; Humans; Young Adult; Adult; Mandibulofacial Dysostosis; Cleft Palate; Micrognathism; Syndrome; RNA Splicing Factors
PubMed: 38254920
DOI: 10.3390/genes15010029 -
Journal of Medical Genetics Oct 2002The Coffin-Lowry syndrome (CLS) is a rare X linked disorder in which affected males show severe mental retardation with characteristic dysmorphism, most notably... (Review)
Review
The Coffin-Lowry syndrome (CLS) is a rare X linked disorder in which affected males show severe mental retardation with characteristic dysmorphism, most notably affecting the face and hands. The typical facial features consist of a prominent forehead, hypertelorism, a flat nasal bridge, downward sloping palpebral fissures, and a wide mouth with full lips. Mild progression in facial coarsening occurs during childhood and adult life. The hands are broad with soft, stubby, tapering fingers. Other clinical findings include short stature (95%), a pectus deformity (80%), a kyphosis and/or scoliosis (80%), mitral valve dysfunction, and sensorineural hearing loss. The causal gene, RSK2, was identified in 1996 and contains 22 exons which encode a protein of 740 amino acids. Over 75 distinct pathogenic mutations have been identified in 250 unrelated CLS patients.
Topics: Abnormalities, Multiple; Cardiovascular Abnormalities; Craniofacial Abnormalities; Genetic Carrier Screening; Hand Deformities, Congenital; Humans; Infant, Newborn; Intellectual Disability; Male; Mutation; Neonatal Screening; Ribosomal Protein S6 Kinases; Syndrome
PubMed: 12362025
DOI: 10.1136/jmg.39.10.705 -
Taiwanese Journal of Obstetrics &... Sep 2007Arachnoid cysts are a rare central nervous system malformation, representing only 1% of all intracranial masses in newborns. Primary (congenital) arachnoid cysts are... (Review)
Review
Arachnoid cysts are a rare central nervous system malformation, representing only 1% of all intracranial masses in newborns. Primary (congenital) arachnoid cysts are benign accumulation of clear fluid between the dura and the brain substance throughout the cerebrospinal axis in relation to the arachnoid membrane and do not communicate with the subarachnoid space. Secondary (acquired) arachnoid cysts result from hemorrhage, trauma, and infection and usually communicate with the subarachnoid space. The common locations of arachnoid cysts are the surface of the brain at the level of main brain fissures, such as sylvian, rolandic and interhemispheric fissures, sella turcica, the anterior cranial fossa, and the middle cranial fossa. Arachnoid cysts may be associated with ventriculomegaly and dysgenesis of corpus callosum. Prenatal ultrasound and magnetic resonance imaging have led to the increased diagnosis of fetal arachnoid cysts. This article provides a thorough review of fetal arachnoid cysts, including prenatal diagnosis, differential diagnosis and associated chromosomal abnormalities, as well as comprehensive illustrations of perinatal imaging findings of fetal arachnoid cysts. Prenatal diagnosis of intracranial hypoechoic lesions should include a differential diagnosis of arachnoid cysts and prompt genetic investigations.
Topics: Arachnoid Cysts; Diagnosis, Differential; Female; Fetal Diseases; Humans; Pregnancy; Prenatal Diagnosis
PubMed: 17962096
DOI: 10.1016/S1028-4559(08)60020-0 -
Revista Paulista de Pediatria : Orgao... 2024To understand the experience of young people with orofacial clefts regarding life as an adolescent.
OBJECTIVE
To understand the experience of young people with orofacial clefts regarding life as an adolescent.
METHODS
Descriptive, qualitative study, developed in a Brazilian public and tertiary hospital, a reference center in the care of patients with craniofacial anomalies and related syndromes, between February and April 2019. The sample was defined by theoretical saturation. The following inclusion criteria were established: age between ten and 19 years old and having previously operated on orofacial cleft (lip and/or palate). Individuals with fissure associated with syndromes or other malformations were excluded. Data collection was performed through semi-structured interviews, which were audio recorded and transcribed in full. The trigger element was: how has it been for you to experience your adolescence? For the construction of the results, content analysis was used in the thematic modality.
RESULTS
Seventeen adolescents participated. From the speeches, three categories were revealed: interacting socially, feeling supported, and experiencing and facing prejudice.
CONCLUSIONS
The biopsychosocial and conflicting complexity that adolescents with orofacial clefts experience was noticed, as well as the importance of receiving support and establishing modalities of situational coping.
Topics: Humans; Cleft Palate; Cleft Lip; Adolescent; Female; Male; Qualitative Research; Child; Young Adult; Adaptation, Psychological; Brazil; Interviews as Topic
PubMed: 38716994
DOI: 10.1590/1984-0462/2024/42/2023131