- Bones, Glands, Ears and More: The Multiple Roles of FGF10 in Craniofacial Development. [Review]
- FGFront Genet 2018; 9:542
- Members of the fibroblast growth factor (FGF) family have myriad functions during development of both non-vertebrate and vertebrate organisms. One of these family members, FGF10, is largely expressed...
Members of the fibroblast growth factor (FGF) family have myriad functions during development of both non-vertebrate and vertebrate organisms. One of these family members, FGF10, is largely expressed in mesenchymal tissues and is essential for postnatal life because of its critical role in development of the craniofacial complex, as well as in lung branching. Here, we review the function of FGF10 in morphogenesis of craniofacial organs. Genetic mouse models have demonstrated that the dysregulation or absence of FGF10 function affects the process of palate closure, and FGF10 is also required for development of salivary and lacrimal glands, the inner ear, eye lids, tongue taste papillae, teeth, and skull bones. Importantly, mutations within the FGF10 locus have been described in connection with craniofacial malformations in humans. A detailed understanding of craniofacial defects caused by dysregulation of FGF10 and the precise mechanisms that underlie them offers new opportunities for development of medical treatments for patients with birth defects and for regenerative approaches for cancer patients with damaged gland tissues.
- [Hyaluronic acid gel implants for correction of pathological conditions of the orbit and eyelids]. [Journal Article]
- VOVestn Oftalmol 2018; 134(5):61-71
- CONCLUSIONS: As minimally invasive method of treating various pathologies of the orbit and eyelids, HAG fillers showed good clinical effectiveness and safety.
- Relationship Between Eyelid Pressure and Ocular Surface Disorders in Patients With Healthy and Dry Eyes. [Journal Article]
- IOInvest Ophthalmol Vis Sci 2018 Nov 01; 59(14):DES56-DES63
- CONCLUSIONS: The blepahro-tensiometer can obtain repeatable measurements of the eyelid pressure and can be used to evaluate the pressure of the eyelids on the ocular surface in healthy and diseased eyes. The significant correlations between the eyelid pressure and the ocular surface staining suggests that the pressure on the ocular surface probably contributes to ocular surface disorders.
- Early-onset infant epileptic encephalopathy associated with a de novo PPP3CA gene mutation. [Journal Article]
- CSCold Spring Harb Mol Case Stud 2018 Nov 19
- Epileptic encephalopathies are severe seizure disorders accompanied by intellectual disability. Whole-exome sequencing technology has enabled the discovery of genetic mutations responsible for a wide...
Epileptic encephalopathies are severe seizure disorders accompanied by intellectual disability. Whole-exome sequencing technology has enabled the discovery of genetic mutations responsible for a wide range of diseases, and severe epilepsy and neurodevelopmental diseases are often associated with rare de novo mutations. We identified a novel de novo frameshift mutation in the PPP3CA gene encoding calcium-dependent protein phosphatase (calcineurin) catalytic subunit A (c.1255_1256del, p.Ser419Cysfs*31) in an 11.5-month-old female with early-onset refractory epilepsy and developmental delay. This finding expands the list of PPP3CA mutations associated with early-onset severe neurodevelopmental disease with seizures, and provides further details on clinical features.
- Ectopic orbital meningioma: a retrospective case series. [Case Reports]
- BOBMC Ophthalmol 2018 Nov 12; 18(1):296
- CONCLUSIONS: Ectopic orbital meningiomas are rare tumours that are not easily diagnosed without postoperative histopathology. This report highlights some of the distinguishing features of isolated orbital lesions, especially around the location of frontoethmoidal suture. Accompanying upper eyelid oedema and eye mobility restriction were observed to be dissimilar to other orbital tumours. In these cases, a diagnosis of ectopic orbital meningioma should be considered.
- Hyperpigmented Upper Eyelid: A Clue to the Diagnosis of Facial Lichen Planus Pigmentosus in a Patient with Frontal Fibrosing Alopecia. [Journal Article]
- SASkin Appendage Disord 2018; 4(4):335-338
- Facial lichen planus pigmentosus (LPPig), a rare variant of classic lichen planus, was first described in patients with frontal fibrosing alopecia (FFA) by Dlova [Br J Dermatol 2013; 168: 439-442] in...
Facial lichen planus pigmentosus (LPPig), a rare variant of classic lichen planus, was first described in patients with frontal fibrosing alopecia (FFA) by Dlova [Br J Dermatol 2013; 168: 439-442] in 2013. The diagnosis of facial LPPig is sometimes not easy, since clinical signs and histopathological features may frequently be confused with melasma or postinflammatory hyperpigmentation. We describe a case of a postmenopausal black woman diagnosed with FFA who presented with an identical brown-grayish pigmentation of the face and upper eyelids and typical dermoscopy analysis on both regions. We suggest that the hyperpigmentation of the upper eyelid with typical LLPig dermoscopy (upper eyelid sign) may be a clue for the diagnosis of LPPig and may avoid a scar-causing face biopsy.
- Lamellar rotation surgery: a new procedure for repairing upper eyelid defects. [Case Reports]
- BOBMC Ophthalmol 2018 Nov 07; 18(1):291
- CONCLUSIONS: This new procedure may help to address the challenge of repairing full-thickness defects of the upper eyelid.
- Biochemical and Functional Changes in the Eye As a Manifestation of Systemic Degeneration of the Nervous System in Parkinsonism. [Journal Article]
- ANActa Naturae 2018 Jul-Sep; 10(3):62-67
- Parkinson's disease (PD) is a systemic neurodegenerative condition caused by the death of dopaminergic neurons of the nigrostriatal system of the brain. This disease is diagnosed after most neurons h...
Parkinson's disease (PD) is a systemic neurodegenerative condition caused by the death of dopaminergic neurons of the nigrostriatal system of the brain. This disease is diagnosed after most neurons have already been lost, which explains the low efficiency of treatment. Hope for increasing treatment efficiency rests in the development of new strategies for early diagnosis of PD based on a search for peripheral markers that appear as early changes in non-motor functions. Since impairment of the visual function is one of the manifestations of PD, the purpose of our work was to identify biochemical and physiological changes in a mouse's eye and eyelid in models of preclinical (presymptomatic) and clinical (symptomatic) stages of PD. We found that the norepinephrine, dopamine, and serotonin levels in the mouse eye reduced not only in the model of the early clinical stage, but also in the model of preclinical stage, an indication that pathological changes in the monoaminergic systems of the brain had affected the eye even before the motor disorders emerged. Moreover, in both models of PD, mice had increased intraocular pressure, indicating the development of both metabolic and functional impairments, which can be used as diagnostic markers. Unlike in the eye, the serotonin level in the eyelid was increased in mice at both parkinsonism stages and in presymptomatic mice to a much higher extent than in symptomatic ones. Given that serotonin is involved in the regulation of lacrimal glands of the eyelid, an increase in its level in parkinsonian mice should alter the composition of tear fluid, which could serve as a diagnostic marker of early stage of PD. Thus, the changes in the metabolism of monoamines in the eye and eyelid observed in mice at the early stage of parkinsonism are accompanied by changes in the function of these structures and, therefore, can be used as diagnostic markers of the early stage of PD.
- Spontaneous resolution of isolated neurogenic blepharoptosis after blunt trauma: A case report and literature review. [Case Reports]
- MMedicine (Baltimore) 2018; 97(44):e12988
- CONCLUSIONS: Isolated neurogenic blepharoptosis can be caused by blunt trauma, which might cause injury to the terminal branch of the oculomotor nerve. In this case, no special treatment was required, and complete resolution was achieved within 4 weeks.
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- [Tarsal conjunctiva: an exceptional localization of squamous cell carcinoma of the conjunctiva]. [Case Reports]
- PAPan Afr Med J 2018; 30:139
- We here report the case of a 48-year old patient with a family history of five deaths due to cancers with different localizations, presenting with ulcero-budding nodular swelling of the lower palpebr...
We here report the case of a 48-year old patient with a family history of five deaths due to cancers with different localizations, presenting with ulcero-budding nodular swelling of the lower palpebral conjunctiva measuring 2cm long its longer axis, gradually increasing volume over one year. It involved the inner half of the lower tarsal conjunctiva closely with the lower lacrimal punctum (A). Tumor biopsy showed well differentiated squamous carcinoma of the conjunctiva. Treatment was based on tumor resection (B) with wide negative safety margins on anatomopathological exam.