scholarly journals Ophthalmic manifestations of proboscis lateralis

2021 ◽  
Vol 6 (1) ◽  
pp. e000558
Author(s):  
Ekta Singh Sahu ◽  
Pavan Humesh Shroff ◽  
Animesh Sahu ◽  
Arun Bhargava ◽  
Balkishan Sharma
Keyword(s):  
Central Nervous System Involvement ◽  
Congenital Deformity ◽  
Brain Abnormalities ◽  
Systematic Analysis ◽  
Ocular Abnormalities ◽  
Ophthalmic Manifestations ◽  
Craniofacial Structure ◽  
Rare Congenital Disorder ◽  
Systemic Abnormality ◽  
Proboscis Lateralis

Proboscis lateralis (PL) is a rare congenital malformation of the craniofacial structure with varied clinical associations. None of the studies documented a discrete review of ophthalmic presentations in PL. The principal aim of the present study is to explore the ophthalmic manifestations of PL. The ancillary goal is to derive a relationship between congenital deformity in PL and various ophthalmic anomalies. Databases were searched in order to obtain articles related to PL. A qualitative systematic analysis of 100 subjects was performed. In PL, eyelid coloboma (32.6%) is the most common ocular feature, followed by hypertelorism (25.3%), iris coloboma (22.4%), lacrimal system abnormality (20.7%), malpositioned eyebrow (14.4%) and retinochoroidal coloboma (12.9%). Sinonasal deformity is the most common systemic abnormality, detected in 87.9% of cases of PL, as compared with central nervous system involvement (56.2%) and other anomalies. The analysis showed a strong significant association between brain abnormalities and hypertelorism (p=0.000) and between brain abnormalities and micro-ophthalmia/anophthalmia (p=0.000). Statistically significant association was noted between cumulative ocular abnormalities and cumulative systemic abnormalities (p=0.001). The present study on PL reviewed the salient features of this rare congenital disorder. The study outcome provides a new aspect to concomitant ocular abnormalities. This study supports the view that other congenital anomalies in cases of PL had significant influence on certain ophthalmic anomalies.

scholarly journals Phocomelia: An Extremely Rare Congenital Disorder involving the Limbs (Dysmelia)

2011 ◽  
Vol 2 (3) ◽  
pp. 118-120
Author(s):  
Sunita Pawar Shekokar ◽  
Tasneem Shah ◽  
C Chandana
Keyword(s):  
Congenital Disorder ◽  
Congenital Deformity ◽  
Genetic Inheritance ◽  
Etiological Factors ◽  
Rare Congenital Disorder

ABSTRACT Phocomelia—phoco(seal), melia(limbs)—is a rare congenital deformity in which hands or feet are attached close to the trunk, the limbs being grossly underdeveloped or absent. The babies are born with limbs that look like flippers on a seal. The two main etiological factors of phocomelia are genetic inheritance and use of the drug thalidomide. Here, we present a case of phocomelia in second gravida without exposure to thalidomide.

Ophthalmic manifestations of Gaucher disease: the most common lysosomal storage disorder

2019 ◽  
Vol 103 (3) ◽  
pp. 315-326 ◽  
Author(s):  
Aaron W Winter ◽  
Ali Salimi ◽  
Luis H Ospina ◽  
Jonathan C P Roos
Keyword(s):  
Gaucher Disease ◽  
Substrate Reduction Therapy ◽  
Type I ◽  
Lysosomal Storage ◽  
Ocular Abnormalities ◽  
Enzyme Replacement ◽  
Ocular Manifestations ◽  
Ophthalmic Manifestations ◽  
Increased Risk ◽  
Risk Of Malignancy

Gaucher disease (GD) results from a deficiency of glucocerebrosidase activity and the subsequent accumulation of the enzyme’s metabolites, principally glucosylsphingosine and glucosylceramide. There are three principal forms: Type I, which is the most common, is usually considered non-neuronopathic. Type II, III and IIIc manifest earlier and have neurological sequelae due to markedly reduced enzyme activity. Gaucher’s can be associated with ophthalmological sequelae but these have not been systematically reviewed. We therefore performed a comprehensive literature review of all such ophthalmic abnormalities associated with the different types of Gaucher disease. We systematically searched the literature (1950 – present) for functional and structural ocular abnormalities arising in patients with Gaucher disease and found that all subtypes can be associated with ophthalmic abnormalities; these range from recently described intraocular lesions to disease involving the adnexae, peripheral nerves and brain. In summary, Gaucher can affect most parts of the eye. Rarely is it sight-threatening; some but not all manifestations are amenable to treatment, including with enzyme replacement and substrate reduction therapy. Retinal involvement is rare but patients with ocular manifestations should be monitored and treated early to reduce the risk of progression and further complications. As Gaucher disease is also associated with Parkinsons disease and may also confer an increased risk of malignancy (particularly haematological forms and melanoma), any ocular abnormalities should be fully investigated to exclude these potential underlying conditions.

scholarly journals Congenital Lateral Nasal Proboscis with Orbital Mass

2014 ◽  
Vol 7 (3) ◽  
pp. 139-141
Author(s):  
Uma Nahar Saikia ◽  
Balwinder Kaur
Keyword(s):  
Newborn Infant ◽  
Orbital Mass ◽  
Ocular Abnormalities ◽  
Craniofacial Malformation ◽  
Proboscis Lateralis

ABSTRACT Proboscis lateralis is a rare craniofacial malformation frequently associated with congenital ocular abnormalities. These abnormalities included anophthalmia, microphthalmia, microcornea, lenticular opacities, cyclopean eye, and colobomas of the choroid, retina, iris and eyelids. We report a case of unilateral proboscis lateralis in a newborn infant with an associated solid orbital mass. How to cite this article Kaur B, Bansal S, Saikia UN, Gupta P. Congenital Lateral Nasal Proboscis with Orbital Mass. Clin Rhinol An Int J 2014;7(3):139-141.

Preparatory Procedures for Electron Microscopic Analysis at the Molecular Level of Resolution

1978 ◽  
Vol 36 (3) ◽  
pp. 516-520
Author(s):  
F.J. Sjostrand
Keyword(s):  
Electron Microscope ◽  
Molecular Level ◽  
Microscopic Analysis ◽  
Resolving Power ◽  
Cellular Structures ◽  
Electron Microscopic ◽  
Systematic Analysis ◽  
Technical Developments ◽  
Thin Sectioning ◽  
Obvious Reason

In the 1940's and 1950's electron microscopy conferences were attended with everybody interested in learning about the latest technical developments for one very obvious reason. There was the electron microscope with its outstanding performance but nobody could make very much use of it because we were lacking proper techniques to prepare biological specimens. The development of the thin sectioning technique with its perfectioning in 1952 changed the situation and systematic analysis of the structure of cells could now be pursued. Since then electron microscopists have in general become satisfied with the level of resolution at which cellular structures can be analyzed when applying this technique. There has been little interest in trying to push the limit of resolution closer to that determined by the resolving power of the electron microscope.

Ophthalmic Manifestations of Patients Undergoing Stereotactic Radiosurgery for Intracranial Pathology

Skull Base ◽  
2007 ◽  
Vol 16 (S 1) ◽  
Author(s):  
Steven Newman ◽  
Elena Drudy ◽  
Jason Sheehan ◽  
Ladislau Steiner
Keyword(s):  
Stereotactic Radiosurgery ◽  
Ophthalmic Manifestations

Cogan’s Syndrome: Atypical Ophthalmic Manifestations

2014 ◽  
Vol 2 (3) ◽  
Author(s):  
MONTEIRO TC ◽  
BIANCARDI AL ◽  
REIS L ◽  
MORAES JR HV
Keyword(s):  
Cogan’S Syndrome ◽  
Ophthalmic Manifestations ◽  
Cogan's Syndrome

A SYSTEMATIC ANALYSIS OF THE EFFECTS OF MOBILE PHONE APPLICATIONS ON PHYSICAL ACTIVITY

2020 ◽  
Vol 2020 ◽  
pp. 1483-1484
Author(s):  
Masoumeh Hosseinpour ◽  
◽  
Ralf Terlutter ◽  
Holger Roschk
Keyword(s):  
Physical Activity ◽  
Mobile Phone ◽  
Systematic Analysis ◽  
Mobile Phone Applications

Acute hepatic porphyrias for the neurologist: current concepts and perspectives

2021 ◽  
Author(s):  
Paulo Victor Sgobbi de Souza ◽  
Bruno de Mattos Lombardi Badia ◽  
Igor Braga Farias ◽  
Eduardo Augusto Gonçalves ◽  
Wladimir Bocca Vieira de Rezende Pinto ◽  
...  
Keyword(s):  
Central Nervous System Involvement ◽  
Therapeutic Interventions ◽  
Inborn Errors ◽  
Intravenous Glucose ◽  
Inherited Metabolic Disorders ◽  
Life Threatening ◽  
Acute Porphyrias ◽  
Diagnostic Work ◽  
Atypical Presentations ◽  
Interfering Rna

ABSTRACT Background: Acute hepatic porphyrias represent an expanding group of complex inherited metabolic disorders due to inborn errors of metabolism involving heme biosynthesis. Objective: We aimed to review the main clinical and therapeutic aspects associated with acute hepatic porphyrias. Methods: The authors provided a wide non-systematic review of current concepts and recently acquired knowledge about acute hepatic porphyrias. Results: Acute neurovisceral attacks are the most common and life-threatening presentation of this group and are often considered the main clinical manifestation by clinicians during differential diagnosis and the start of proper diagnostic work-up for acute porphyrias. However, atypical presentations with central nervous system involvement, neuropsychiatric disturbances, and some subtypes with photosensitivity usually make the definite diagnosis difficult and late. Early therapeutic interventions are essential during emergency treatment and intercritical periods to avoid recurrent severe presentations. The availability of new disease-modifying therapeutic proposals based on small interfering RNA (siRNA)-based therapies, complementary to the classic intravenous glucose infusion and hemin-based treatments, emphasizes the importance of early diagnosis and genetic counseling of patients. Conclusions: This review article highlights the main biochemical, pathophysiological, clinical, and therapeutic aspects of acute hepatic porphyrias in clinical practice.

The Sustainable Debts of Philip II

2017 ◽  
Author(s):  
Mauricio Drelichman ◽  
Hans-Joachim Voth
Keyword(s):  
Sixteenth Century ◽  
Strong Evidence ◽  
Military Expenditure ◽  
Debt Service ◽  
Fiscal Sustainability ◽  
Short Term ◽  
Systematic Analysis ◽  
Philip Ii ◽  
Long Run

This chapter addresses the sustainability of debt. A systematic analysis based on the International Monetary Fund's (IMF) methodology to evaluate fiscal sustainability shows that Castile was able to service its debts in the long run. While liquidity was scarce during periods of intense warfare, years of relative peace brought large surpluses. The data collected from Castile's annual fiscal accounts produced new yearly series of revenue, military expenditure, short-term debt issues, and short-term debt service. The resulting database spans a full 31-year period—enough to employ modern quantitative techniques. This analysis provides strong evidence that Castile's fiscal position in the second half of the sixteenth century was on a solid footing. The chapter then assesses whether the events that led to major downturns in Castile's financial fortunes could have been anticipated.

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