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Levator palpebralis superioris histopathologic findings in congenital ptosis and surgical outcome after its resection: Is there any association?
Int Ophthalmol
July 2024
Department of Oculo-Facial Plastic and Reconstructive Surgery, Eye Research Center, Farabi Hospital, Tehran University of Medical Sciences, Tehran, Iran.
Article Synopsis
- The study aims to evaluate the histopathologic findings of the Levator palpebralis superioris (LPS) muscle after biopsy and resection in patients with congenital ptosis, focusing on their relation to surgical outcomes.
- A retrospective analysis involved 67 patients who underwent LPS resection, showing a significant improvement in margin-reflex distance (MRD-1) post-surgery, with an overall success rate of 80.3%.
- The findings suggest that histopathological characteristics, particularly the percentage of fibrous tissue in the resected sample, may help predict surgical success in congenital ptosis cases.
The neurobiology of cluster headache.
Handb Clin Neurol
July 2021
Neuroalgology Department, Foundation of the Carlo Besta Neurological Institute, IRCCS, Milan, Italy.
Cluster headache is a primary headache form occurring in paroxysmal excruciatingly severe unilateral head pain attacks usually grouped in periods lasting 1-2months, the cluster periods. A genetic component is suggested by the familial occurrence of the disease but a genetic linkage is yet to be identified. Contemporary activation of trigeminal and cranial parasympathetic systems-the so-called trigemino-parasympathetic reflex-during the headache attacks seem to cause the pain and accompanying oculo-facial autonomic phenomena respectively.
View Article and Find Full Text PDFAdvances in the understanding of cluster headache.
Expert Rev Neurother
February 2017
a Department of Neurology, Headache Centre and Pain Neuromodulation Unit, Fondazione Istituto Nazionale Neurologico Carlo Besta , Milano , Italy.
Cluster headache is the worst primary headache form; it occurs in paroxysmal excruciatingly severe unilateral head pain attacks usually grouped in cluster periods. The familial occurrence of the disease indicates a genetic component but a gene abnormality is yet to be disclosed. Activation of trigeminal afferents and cranial parasympathetic efferents, the so-called trigemino-parasympathetic reflex, can explain pain and accompanying oculo-facial autonomic phenomena.
View Article and Find Full Text PDFA novel XPD mutation in a compound heterozygote; the mutation in the second allele is present in three homozygous patients with mild sun sensitivity.
Environ Mol Mutagen
August 2012
Institute of Human Genetics, Western Galilee Hospital, Naharia, Israel.
The XPD protein plays a pivotal role in basal transcription and in nucleotide excision repair (NER) as one of the ten known components of the transcription factor TFIIH. Mutations in XPD can result in the DNA repair-deficient diseases xeroderma pigmentosum (XP), trichothiodystrophy (TTD), cerebro-oculo-facial-skeletal syndrome, and in combined phenotypes such as XP/Cockayne syndrome and XP/TTD. We describe here an 18-year-old individual with mild sun sensitivity, no neurological abnormalities and no tumors, who carries a p.
View Article and Find Full Text PDFBranchio-oculo-facial syndrome (BOFS) and congenital heart defects.
Arq Bras Cardiol
February 2009
Complexo Hospitalar Santa Casa de Porto Alegre, Clinical Genetics, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, RS, Brasil.
We report the case of a 43-day-old boy with branchio-oculo-facial syndrome (BOFS) and congenital heart defect. On clinical examination, he presented growth retardation, epicanthal folds, small palpebral fissures, telecanthus, broadened nasal bridge, lip pseudocleft, micrognathia, dysplastic and posteriorly-rotated ears, branchial clefts, short and webbed neck, supernumerary nipple, hypotonia and decreased deep tendon reflexes. Echocardiography showed the presence of a type-A complete atrioventricular septal defect and patent ductus arteriosus.
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