scholarly journals Brittle Cornea Syndrome: Case Report with Novel Mutation in thePRDM5Gene and Review of the Literature

2015 ◽  
Vol 2015 ◽  
pp. 1-5 ◽  
Author(s):  
Georgia Avgitidou ◽  
Sebastian Siebelmann ◽  
Bjoern Bachmann ◽  
Juergen Kohlhase ◽  
Ludwig M. Heindl ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Clinical Findings ◽  
Corneal Scarring ◽  
Brittle Cornea Syndrome ◽  
Exon 1 ◽  
Corneal Hydrops ◽  
The Right ◽  
Almost All ◽  
Pr Domain ◽  
Corneal Rupture

A 3-year-old boy presented with acute corneal hydrops on the left eye and spontaneous corneal rupture on the right eye. A diagnosis of brittle cornea syndrome was confirmed by molecular analysis. A novel mutation, the homozygous variant c.17T>G, p.V6G, was found in the gene for PR-domain-containing protein 5 (PRDM5) in exon 1. Brittle cornea syndrome is a rare connective tissue disease with typical ocular, auditory, musculoskeletal, and cutaneous disorders. Almost all patients suffer from declined vision due to corneal scarring, thinning, and rupture. The most common ophthalmologic findings include keratoconus, progressive central corneal thinning, high myopia, irregular astigmatism, retinal detachment, and high risk for spontaneous corneal or scleral rupture. In addition to describing the case with a novel mutation here we review the current literature on brittle cornea syndrome pathogenesis, clinical findings, and therapy.

scholarly journals Case Series of Brittle Cornea Syndrome

2020 ◽  
Vol 2020 ◽  
pp. 1-6
Author(s):  
Taher Eleiwa ◽  
Mariam Raheem ◽  
Nimesh A. Patel ◽  
Audina M. Berrocal ◽  
Alana Grajewski ◽  
...  
Keyword(s):  
Late Onset ◽  
Treatment Options ◽  
Case Series ◽  
Autosomal Recessive Disorder ◽  
Diagnostic Features ◽  
Brittle Cornea Syndrome ◽  
Patch Graft ◽  
The Right ◽  
Corneal Rupture

Purpose. This case series demonstrate diagnostic features, treatment options, and challenges for Brittle Cornea Syndrome. Observations. Three cases presented with bluish sclera and extremely thin cornea. Genetic workup was performed and confirmed the diagnosis of Brittle Cornea Syndrome, a rare autosomal recessive disorder characterized by corneal thinning and blue sclera. Case 1 was a 4-year-old boy who developed cataract and glaucoma after undergoing right tectonic penetrating keratoplasty (PK) secondary to a spontaneous corneal rupture. Glaucoma was controlled medically. Later, the kid underwent right transcorneal lensectomy and vitrectomy with synechiolysis. After 6 weeks, he sustained graft dehiscence that was repaired using onlay patch graft. Case 2 was a 7-year-old boy who underwent PK in the right eye, then a pericardial patch graft in the left eye following spontaneous corneal rupture. Glaucoma in both eyes was controlled medically. Case 3 was the 2-year-old sister of the 2nd case. She had a pachymetry of 238 μm OD and 254 μm OS. In the 3 cases, parents were instructed to take protective measures for both eyes and to continue with follow-up visits. Also, they were instructed to have regular screenings for late-onset hearing loss, dental abnormalities, and bone deformities. Conclusions. Long-term follow-up of children diagnosed with Brittle Cornea Syndrome is paramount to minimize the morbidity of corneal rupture and late-onset extraocular conditions.

A Novel PORCN Frameshift Mutation Leading to Focal Dermal Hypoplasia: A Case Report

2018 ◽  
Vol 154 (3) ◽  
pp. 119-121
Author(s):  
Ceren D. Durmaz ◽  
John McGrath ◽  
Lu Liu ◽  
Halil G. Karabulut
Keyword(s):  
Case Report ◽  
Frameshift Mutation ◽  
Stop Codon ◽  
Novel Mutation ◽  
Premature Stop Codon ◽  
Clinical Findings ◽  
Gorlin Syndrome ◽  
Focal Dermal Hypoplasia ◽  
Skeletal Defects ◽  
The Right

Focal dermal hypoplasia (FDH), also known as Goltz-Gorlin syndrome, is a rare, multisystemic, X-linked dominant genodermatosis characterized by defective development of mesodermal and ectodermal tissues. Major clinical features of the disorder are skin manifestations, skeletal defects, and developmental eye abnormalities. FDH is caused by heterozygous mutations in the PORCN gene located at Xp11.23, and 90% of individuals with FDH are females. Here, we report a female patient with cutaneous changes, multiple eye anomalies, short stature, and ectrodactyly of the right foot. These clinical findings were compatible with the diagnosis of FDH, and a novel mutation, NM_022825.3:c.488delG was found in the PORCN gene causing a premature stop codon.

scholarly journals Development of central auditory processes in Polish children and adolescents at the age from 7 to 16 years

2021 ◽  
Author(s):  
Monika Lewandowska ◽  
Rafał Milner ◽  
Małgorzata Ganc ◽  
Elżbieta Włodarczyk ◽  
Joanna Dołżycka ◽  
...  
Keyword(s):  
Children And Adolescents ◽  
School Students ◽  
Frequency Pattern ◽  
Speech In Noise ◽  
Age Related ◽  
Right Ear Advantage ◽  
The Right ◽  
Almost All ◽  
Test Retest Reliability ◽  
Auditory Processes

AbstractThere are discrepancies in the literature regarding the course of central auditory processes (CAP) maturation in typically developing children and adolescents. The purpose of the study was to provide an overview of age – related improvement in CAP in Polish primary and secondary school students aged 7–16 years. 180 children/adolescents, subdivided into 9 age categories, and 20 adults (aged 18–24 years) performed the Dichotic Digit Test (DDT), Duration Pattern Test (DPT), Frequency Pattern Test (FPT), Gap Detection Test (GDT) and adaptive Speech-in-Noise (aSpN). The 12-year-olds was retested after w week. We found the age effects only for the DDT, DPT and FPT. In the right ear DDT the 7-year-olds performed more poorly than all groups ≥12. In the left ear DDT both 7- and 8-year-olds achieved less correct responses compared with the 13-, 14-, 15-year-olds and with the adults. The right ear advantage was greater in the 7-year-olds than in the 15-year-olds and adult group. At the age of 7 there was lower DPT and FPT scores than in all participants ≥13 whereas the 8-year-olds obtained less correct responses in the FPT than all age categories ≥12. Almost all groups (except for the 7-year-olds) performed better in the DPT than FPT. The test-retest reliability for all tests was satisfactory. The study demonstrated that different CAP have their own patterns of improvement with age and some of them are specific for the Polish population. The psychoacoustic battery may be useful in screening for CAP disorders in Poland.

scholarly journals A Case Report on Frontal Osteoma

Pulse ◽  
2017 ◽  
Vol 9 (1) ◽  
pp. 45-48
Author(s):  
MR Molla ◽  
F Ferdousi ◽  
DR Shankar ◽  
AKMB Karim
Keyword(s):  
Case Report ◽  
Frontal Lobe ◽  
Frontal Sinus ◽  
Clinical Findings ◽  
Complete Excision ◽  
Tumor Mass ◽  
The Right ◽  
Orbital Region

A 13 years old boy admitted with the complaint of progressive exophthalmos and gradually decreasing vision on right eye, also occasional headache and deformity on the right fronto-orbital region. Radiological & clinical findings revealed a case of frontal osteoma in the right frontal sinus extending up to right frontal lobe, eroding right roof of the orbit. Complete excision of the tumor mass was possible surgically. Biopsy confirmed a case of osteoma. Below is a discussion on diagnosis & management of frontal osteomaPulse Vol.9 January-December 2016 p.45-48

Variation in fur farm and wild populations of the red fox, Vulpes vulpes (Carnivora: Canidae) — Part I: Morphometry

2016 ◽  
Vol 96 (4) ◽  
pp. 589-597 ◽  
Author(s):  
Magdalena Zatoń-Dobrowolska ◽  
Magdalena Moska ◽  
Anna Mucha ◽  
Heliodor Wierzbicki ◽  
Piotr Przysiecki ◽  
...  
Keyword(s):  
Vulpes Vulpes ◽  
Selective Breeding ◽  
Red Fox ◽  
Tail Length ◽  
Morphometric Traits ◽  
Red Foxes ◽  
Ear Height ◽  
Morphological Differences ◽  
The Right ◽  
Almost All

This paper demonstrates the influence of artificial selection on morphometric traits in the red fox [Vulpes vulpes (Linnaeus, 1758)]. Measurements and two proportion coefficients were analysed in 132 wild and 199 farm red foxes. The two groups differed significantly (P ≤ 0.05) on all but one of the measurements. Eight out of 11 measurements were significantly greater in the farm fox population, while only tail length, ear height, and length of the right hind limb were greater in the population of wild foxes. The opposite trend was observed when analysing variation in the measurements — the farm foxes were characterized by a greater variability only in the case of body weight, body length, and breadth of chest. When analysing the sexual dimorphism index in different sex and population groups, in almost all analysed traits, the greatest differences occurred between farm males and wild females. All of the traits examined in this study are important for survival of wild foxes. However, because importance of some traits was reduced during domestication and selective breeding (farm foxes do not have to fight for survival), the genetic relationship between them may have weakened. Other possible causes of morphological differences between the studied groups of red foxes are discussed as well.

Demonstration of the relationship between MSD and online learning during the COVID-19 pandemic

2021 ◽  
Vol ahead-of-print (ahead-of-print) ◽  
Author(s):  
Kochu Therisa Karingada ◽  
Michael Sony
Keyword(s):  
Online Learning ◽  
Undergraduate Students ◽  
Online Survey ◽  
Cross Sectional Study ◽  
The Body ◽  
Body Parts ◽  
Cross Sectional ◽  
Content Type ◽  
The Right ◽  
Almost All

PurposeThe COVID-19 pandemic lockdown has caught many educational institutions by surprise and warranted an abrupt migration from offline to online learning. This has resulted in an education change, without any time for due consideration, as regards its impact on musculoskeletal disorders (MSD) on students. The purpose of this study is to investigate MSD related to online learning during the COVID-19 pandemic lockdown.Design/methodology/approachA cross-sectional study was conducted on undergraduate students in India. In total, 261 students participated in this online survey.FindingsThe study finds that around 80% of students have reported some symptom in the head, neck and eyes since they started online learning. In total, 58% have reported MSD symptom in the right shoulder and 56% in the right hand fingers. Besides, more than 40 % of students experienced some MSD symptoms, in almost all the body parts studied, due to online learning. Correlation analysis is conducted between time spent on online learning per day and MSD symptoms.Originality/valueThis is the first study conducted on MSD and online learning during COVID-19 pandemic.

TYPES OF OVERWORK AND JOBS THAT CANNOT BE OVERWORKED WITHIN THE FRAMEWORK OF THE LABOR LAW NO. 4857

2021 ◽  
Vol 6 (14) ◽  
pp. 67-81
Author(s):  
Altuğ YENGİNAR
Keyword(s):  
Labor Law ◽  
Working Hours ◽  
Human Right ◽  
International Human Rights ◽  
Right To Work ◽  
The Subject ◽  
The Republic ◽  
The Right ◽  
Almost All ◽  
Republic Of Turkey

The right to work has been recognized as a fundamental human right in almost all international human rights documents and in the constitutions of many countries. This right has been recognized and guaranteed as a fundamental human right also in the Constitution of the Republic of Turkey. However, not only recognizing and guaranteeing "work" as a fundamental human right but also regulating its implementation and functioning within the framework of laws is of great importance. The concept of overwork is a concept that has been mentioned in the Labor Law regarding the implementation and functioning of the concept of work and it is regulated in our Labor Law No. 4857. In order to talk about overwork, a limited working time is required. In this context, upon determining the maximum number of hours a worker can work per week by drawing a limit on working hours in Labor Law No. 4857, overwork, which is the subject of work exceeding this period, is defined. Furthermore, the types of overwork that arise depending on the reasons for overworking, as well as the jobs that cannot be overworked, are regulated in the same Law.

Pregnancies and Pregnancy Desires at the State Level: Estimates for 2017 and Trends Since 2012

2021 ◽  
Author(s):  
Kathryn Kost ◽  
◽  
Isaac Maddow-Zimet ◽  
Ashley C. Little
Keyword(s):  
Pregnancy Rate ◽  
Unwanted Pregnancy ◽  
State Level ◽  
The State ◽  
Clear Pattern ◽  
The South ◽  
The West ◽  
Key Points ◽  
The Right ◽  
Almost All

Key Points In almost all U.S. states, pregnancies reported as occurring at the right time or being wanted sooner than they occurred comprised the largest share of pregnancies in 2017, though proportions varied widely by state. The proportion of pregnancies that were wanted later or unwanted was higher in the South and Northeast than in other regions, and the proportion of pregnancies that occurred at the right time or were wanted sooner was higher in the West and Midwest. From 2012 to 2017, the wanted-later-or-unwanted pregnancy rate fell in the majority of states. However, no clear pattern emerged for any changes in the rate of pregnancies that were reported as wanted then or sooner or in the rate of those for which individuals expressed uncertainty.

X-Linked Hypohidrotic Ectodermal Dysplasia: New Features and a Novel EDA Gene Mutation

2017 ◽  
Vol 152 (3) ◽  
pp. 111-116 ◽  
Author(s):  
Salvatore Savasta ◽  
Giorgia Carlone ◽  
Riccardo Castagnoli ◽  
Francesca Chiappe ◽  
Francesco Bassanese ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Ectodermal Dysplasia ◽  
Novel Mutation ◽  
Nucleotide Position ◽  
Hypohidrotic Ectodermal Dysplasia ◽  
Nasal Bridge ◽  
Mutation Database ◽  
Exon 1 ◽  
Male Karyotype ◽  
Eda Gene

We described a 5-year-old male with hypodontia, hypohidrosis, and facial dysmorphisms characterized by a depressed nasal bridge, maxillary hypoplasia, and protuberant lips. Chromosomal analysis revealed a normal 46,XY male karyotype. Due to the presence of clinical features of hypohidrotic ectodermal dysplasia (HED), the EDA gene, located at Xq12q13.1, of the patient and his family was sequenced. Analysis of the proband's sequence revealed a missense mutation (T to A transversion) in hemizygosity state at nucleotide position 158 in exon 1 of the EDA gene, which changes codon 53 from leucine to histidine, while heterozygosity at this position was detected in the slightly affected mother; moreover, this mutation was not found in the publically available Human Gene Mutation Database. To date, our findings indicate that a novel mutation in EDA is associated with X-linked HED, adding it to the repertoire of EDA mutations.

Occurrence and characterization of pearls from oysters of the genus Crassostrea

2016 ◽  
Vol 97 (2) ◽  
pp. 297-302
Author(s):  
Frederico M. Batista ◽  
Ana Grade ◽  
Deborah M. Power ◽  
Francisco Ruano ◽  
Elizabeth M. Harper
Keyword(s):  
Oyster Shell ◽  
X Ray Diffraction ◽  
Parasitic Copepods ◽  
Ria Formosa ◽  
Crassostrea Angulata ◽  
Mollusc Species ◽  
Southern Portugal ◽  
Foot Disease ◽  
The Right ◽  
Almost All

The occurrence of pearls in the ‘true’ oysters, the Ostreioidea, is poorly documented despite being the most produced mollusc species in the world. Oysters of the Crassostrea genus were collected in two different sites in southern Portugal where both Crassostrea angulata and C. gigas are present, namely in: (1) the Ria Formosa lagoon where pearls were not observed (N = 446); and (2) the Guadiana estuary where pearls were found in 12 out of the 798 oysters analysed. The pearls were located mainly at the edge of the right mantle lobe in the inhalant chamber and their maximum length ranged from 0.9 to 5.5 mm. Almost all the pearls had a white-cream colouration with the exception of two pearls that had a black-brown colour. X-ray diffraction analysis of one pearl showed that it was entirely calcitic with no traces of either aragonite or vaterite. The pearls observed were therefore non-nacreous pearls. Scanning electron microscopy (SEM) revealed a diversity of microstructures including prismatic, foliae-like sheets and blocky textures, i.e. highly reminiscent of the host oyster shell microstructures. Parasites (e.g. parasitic copepods, Haplosporidium-like plasmodia) and signs of diseases (e.g. foot disease) were observed in some of the oysters analysed, but they were not associated with the occurrence of pearls. The present work is one of the few studies on the occurrence of natural pearls in ‘true’ oysters and to our knowledge the first description of their microstructure by SEM.

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