scholarly journals Hypomelanosis Of Ito: A Rare Disorder With Rarer Presentation-Unilateral Retinal Detachment And Bilateral Glaucoma

2020 ◽  
Vol 7 (2) ◽  
pp. 1-4
Author(s):  
Kanika Jain ◽  
Keyword(s):  
Retinal Detachment ◽  
Rare Disorder ◽  
Hypomelanosis Of Ito ◽  
Live Births ◽  
Familial Cases ◽  
Dermatological Disease

Hypomelanosis of Ito, also known as Hypomelanosis of Achromia, Incontenentia pigmenti Achromians, pigmentary dysplasia or mosaicism, is a rare dermatological disease with a prevalence of 1 in 8000-10,000 live births predominantly affecting females. Disease is usually sporadic but familial cases have been reported

Hereditary Congenital Unilateral Deafness: A New Disorder?

2005 ◽  
Vol 114 (4) ◽  
pp. 332-337 ◽  
Author(s):  
Frederik G. Dikkers ◽  
Joke B. G. M. Verheij ◽  
Monique van Mechelen
Keyword(s):  
Medical Literature ◽  
Normal Hearing ◽  
Rare Disorder ◽  
Lower Prevalence ◽  
Prevalence Rates ◽  
Inheritance Pattern ◽  
Male And Female ◽  
Unilateral Deafness ◽  
Live Births ◽  
The Family

Congenital unilateral deafness is a rare disorder. The prevalence rates are unknown. The prevalence of children with severe to profound hearing losses that are congenital (or acquired before the development of speech and language) is 0.5 to 3 per 1,000 live births. Evidently, congenital unilateral deafness must have a lower prevalence. The purpose of this research was to present a new disorder, hereditary congenital unilateral deafness. A pedigree is presented in which both male and female members display symptoms of congenital unilateral deafness. Two affected persons and a normal-hearing member of the family have vestibular abnormalities without dysequilibrium. The inheritance pattern of this new syndrome is not clear. We hypothesize that the disorder might be new. A family like this has never before been presented in the medical literature.

scholarly journals Nationwide inventory on retinopathy of prematurity screening in the Netherlands

2021 ◽  
pp. bjophthalmol-2021-319929
Author(s):  
Kasia Trzcionkowska ◽  
Jacqueline U Termote ◽  
Stefan Böhringer ◽  
Arlette J van Sorge ◽  
Nicoline Schalij-Delfos
Keyword(s):  
Treatment Outcome ◽  
Retinal Detachment ◽  
The Netherlands ◽  
Retinopathy Of Prematurity ◽  
Outcome Data ◽  
Screening Criteria ◽  
Nationwide Study ◽  
Live Births ◽  
The Difference ◽  
Rop Screening

PurposeProvide up-to-date insight in incidence of retinopathy of prematurity (ROP), logistics of screening and treatment in the Netherlands and influence of the new national ROP guideline in which more stringent screening criteria were implemented and the early treatment for ROP criteria (ETROP) were emphasised.MethodsMulticentre prospective nationwide study including all preterm infants, born in the Netherlands in 2017, and considered eligible for ROP screening. Anonymised data from ophthalmologists and paediatricians were merged. Outcome data were compared with the first national ROP inventory (NEDROP-1, 2009).ResultsIn 2017, 1492 infants were live born with gestational age (GA) <32 weeks (2009: 1662); 1287 infants were eligible for screening (2009: 2033). Ophthalmologists screened 1085 infants, versus 1688 in 2009, corrected with factor 1.114 for the difference in number of live births, a 28.4% (479/1688) decrease in screened infants was seen. Among surviving infants with GA <32 week, ROP was found in 305/1492 babies, 20.4% (2009: 324/1662, 19.5%) of which 49/1492 stage ≥3, 3.3% (2009: 30/1662, 1.8%). In all infants, report on presence or absence of plus disease was provided, according to the ETROP criteria. Treatment was performed in 39 infants. Of infants with ROP stage ≥3, 3/49 (6.1%) progressed to retinal detachment (2009: 6/30, 20.0%).ConclusionThe overall ROP incidence expressed as a percentage, remained stable but the number of infants that developed severe ROP nearly doubled. A near one-third reduction in screened infants shows satisfactory implementation of the new screening criteria. A notable decrease in retinal detachment delineates improved treatment outcome.

Mitral Valve Replacement in an Adult with Left Pulmonary Agenesis

2015 ◽  
Vol 18 (3) ◽  
pp. 109
Author(s):  
Huseyin Saskin ◽  
Mustafa Idiz ◽  
Cagri Duzyol ◽  
Huseyin Macika ◽  
Rezan Aksoy
Keyword(s):  
Mitral Valve ◽  
Vitamin A ◽  
Valve Replacement ◽  
Viral Infections ◽  
Vitamin A Deficiency ◽  
Pulmonary Agenesis ◽  
Pulmonary Vessels ◽  
Live Births ◽  
Factors Associated ◽  
Female Predominance

Pulmonary agenesis is associated with the absence of pulmonary vessels, bronchi, or parenchyma. This condition usually occurs between the 4th and 5th week of gestation during the embryonic phase. Etiopathogenic factors associated with pulmonary agenesis are not fully understood. In the literature, genetic and teratogenic factors, viral infections, and vitamin-A deficiency are shown to be associated with pulmonary agenesis [Malcon 2012]. This condition may be seen unilaterally or bilaterally. Although the precise rate of incidence is unknown, it is estimated to occur in one of every 10,000 to 12,000 live births [Yetim 2011]. There is a 1.3:1 female predominance with unilateral agenesis [Halilbasic 2013]

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