scholarly journals Blue Cone Monochromatism with Foveal Hypoplasia Caused by the Concomitant Effect of Variants in OPN1LW/OPN1MW and GPR143 Genes

2021 ◽  
Vol 22 (16) ◽  
pp. 8617
Author(s):  
Giancarlo Iarossi ◽  
Andrea Maria Coppè ◽  
Chiara Passarelli ◽  
Paolo Enrico Maltese ◽  
Lorenzo Sinibaldi ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Simultaneous Action ◽  
Female Carrier ◽  
Functional Evaluation ◽  
The Novel ◽  
Cone Dysfunction ◽  
First Case ◽  
Foveal Hypoplasia ◽  
The Common ◽  
Cone Opsins

Blue cone monochromatism (BCM) is an X-linked recessive cone dysfunction disorder caused by mutations in the OPN1LW/OPN1MW gene cluster, encoding long (L)- and middle (M)-wavelength-sensitive cone opsins. Here, we report on the unusual clinical presentation of BCM caused by a novel mutation in the OPN1LW gene in a young man. We describe in detail the phenotype of the proband, and the subclinical morpho-functional anomalies shown by his carrier mother. At a clinical level, the extensive functional evaluation demonstrated in the proband the M/L cone affection and the sparing of S-cone function, distinctive findings of BCM. Interestingly, spectral-domain optical coherence tomography showed the presence of foveal hypoplasia with focal irregularities of the ellipsoid layer in the foveal area, reported to be associated with some cases of cone-rod dystrophy and achromatopsia. At a molecular level, we identified the novel mutation c.427T > C p.(Ser143Pro) in the OPN1LW gene and the common missense mutation c.607T > C (p.Cys203Arg) in the OPN1MW gene. In addition, we discovered the c.768-2_769delAGTT splicing variant in the GPR143 gene. To our knowledge, this is the first case of foveal hypoplasia in a BCM patient and of mild clinical affection in a female carrier caused by the concomitant effect of variants in OPN1LW/OPN1MW and GPR143 genes, thus as the result of the simultaneous action of two independent genetic defects.

scholarly journals A novel variant in PAX6  as the cause of aniridia in a Chinese family

2020 ◽  
Author(s):  
Xin Jin ◽  
Wei Liu ◽  
HouBin Huang ◽  
Linghui Qv ◽  
Wenqin Xv
Keyword(s):  
Autosomal Dominant ◽  
Novel Mutation ◽  
Causative Mutation ◽  
Chinese Family ◽  
The Novel ◽  
Slit Lamp ◽  
Targeted Next Generation Sequencing ◽  
Novel Variant ◽  
Foveal Hypoplasia ◽  
Generation Sequencing

Abstract Background: Aniridia is a kind of congenital human pan-ocular anomaly, which is related to PAX6 commonly.Methods: The ophthalmic examinations including visual acuity, slit lamp and fundoscopy examination were performed in a Chinese aniridia pedigree. The targeted next-generation sequencing of aniridia genes was used to identify the causative mutation.Results: A novel heterozygous PAX6 nonsense mutation c.619A>T (p.K207*) was identified in the Chinese autosomal dominant family with aniridia. Phenotype related to the novel mutation included nystagmus, keratopathy, absence of iris, cataract and foveal hypoplasia.Conclusion: The novel nonsense variation in PAX6 was the cause of aniridia in this family, which expanded the spectrum of the PAX6 mutation.

scholarly journals A novel variant in PAX6 as the cause of aniridia in a Chinese family

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
X Jin ◽  
W Liu ◽  
LH Qv ◽  
WQ X ◽  
HB Huang
Keyword(s):  
Autosomal Dominant ◽  
Novel Mutation ◽  
Causative Mutation ◽  
Chinese Family ◽  
The Novel ◽  
Slit Lamp ◽  
Targeted Next Generation Sequencing ◽  
Novel Variant ◽  
Foveal Hypoplasia ◽  
Generation Sequencing

Abstract Background Aniridia is a kind of congenital human pan-ocular anomaly, which is related to PAX6 commonly. Methods The ophthalmic examinations including visual acuity, slit lamp and fundoscopy examination were performed in a Chinese aniridia pedigree. The targeted next-generation sequencing of aniridia genes was used to identify the causative mutation. Results A novel heterozygous PAX6 nonsense mutation c.619A > T (p.K207*) was identified in the Chinese autosomal dominant family with aniridia. Phenotype related to the novel mutation included nystagmus, keratopathy, absence of iris, cataract and foveal hypoplasia. Conclusions The novel nonsense variation in PAX6 was the cause of aniridia in this family, which expanded the spectrum of the PAX6 mutation.

scholarly journals Modeling and Forecasting of COVID-19 Spreading by Delayed Stochastic Differential Equations

Axioms ◽  
2021 ◽  
Vol 10 (1) ◽  
pp. 18
Author(s):  
Marouane Mahrouf ◽  
Adnane Boukhouima ◽  
Houssine Zine ◽  
El Mehdi Lotfi ◽  
Delfim F. M. Torres ◽  
...  
Keyword(s):  
Real Data ◽  
Economic Damage ◽  
Population Parameter ◽  
The Novel ◽  
First Case ◽  
Epidemiological Trend ◽  
Modeling And Forecasting ◽  
Novel Coronavirus ◽  
Parameter Values ◽  
Stochastic Time

The novel coronavirus disease (COVID-19) pneumonia has posed a great threat to the world recent months by causing many deaths and enormous economic damage worldwide. The first case of COVID-19 in Morocco was reported on 2 March 2020, and the number of reported cases has increased day by day. In this work, we extend the well-known SIR compartmental model to deterministic and stochastic time-delayed models in order to predict the epidemiological trend of COVID-19 in Morocco and to assess the potential role of multiple preventive measures and strategies imposed by Moroccan authorities. The main features of the work include the well-posedness of the models and conditions under which the COVID-19 may become extinct or persist in the population. Parameter values have been estimated from real data and numerical simulations are presented for forecasting the COVID-19 spreading as well as verification of theoretical results.

scholarly journals Delayed diagnosis of Peutz–Jeghers syndrome due to pathological information loss or mistake in family/personal history

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Yu-Liang Jiang ◽  
Xiao-Dong Xu ◽  
Bai-Rong Li ◽  
En-Da Yu ◽  
Zi-Ye Zhao ◽  
...  
Keyword(s):  
Clinical Presentation ◽  
Novel Mutation ◽  
Delayed Diagnosis ◽  
Personal History ◽  
Pathological Examination ◽  
The Novel ◽  
Novel Mutations ◽  
The Family ◽  
Genetic Level ◽  
Peutz Jeghers Syndrome

Abstract Objective To report Peutz–Jeghers syndrome (PJS) cases with non-definitive clues in the family or personal history and finally diagnosed through pathological examination and STK11 gene mutation test. Clinical presentation and intervention PJS was suspected in 3 families with tortuous medical courses. Two of them had relatives departed due to polyposis or colon cancer without pathological results, and the other one had been diagnosed as hyperplastic polyposis before. Diagnosis of PJS was confirmed by endoscopy and repeated pathological examinations, and the STK11 mutation test finally confirmed the diagnosis at genetic level, during which 3 novel mutation were detected (536C > A, 373_374insA, 454_455insGGAGAAGCGTTTCCCAGTGTGCC). Conclusion Early diagnosis of PJS is important and may be based on a family history with selective features among family members, and the pathological information is the key. The novel mutations also expand the STK11 variant spectrum.

scholarly journals Epstein-Barr Virus Versus Novel Coronavirus-Induced Hemophagocytic Lymphohistocytosis: The Uncharted Waters

2020 ◽  
Vol 8 ◽  
pp. 232470962095010 ◽  
Author(s):  
Rawan Amir ◽  
Asim Kichloo ◽  
Jagmeet Singh ◽  
Ravinder Bhanot ◽  
Michael Aljadah ◽  
...  
Keyword(s):  
Bacterial Infections ◽  
Epstein Barr Virus ◽  
Genetic Mutations ◽  
High Grade ◽  
The Novel ◽  
Barr Virus ◽  
First Case ◽  
Epstein Barr ◽  
Virus Versus ◽  
Novel Coronavirus

Hemophagocytic lymphohistocytosis (HLH) is a hyperinflammatory syndrome characterized by fever, hepatosplenomegaly, and pancytopenia. It may be associated with genetic mutations or viral/bacterial infections, most commonly Epstein-Barr virus (EBV) and cytomegalovirus. As for the novel coronavirus, severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2), also known as COVID-19 (coronavirus disease-2019), the cytokine storm it triggers can theoretically lead to syndromes similar to HLH. In this article, we report a case of a 28-year-old female who presented with high-grade fevers, found to have both SARS-CoV-2 and EBV infections, and eventually began to show signs of early HLH. To our knowledge, this is the first case reported in literature that raises the possibility of SARS-CoV-2–related HLH development.

scholarly journals B.05 Hemi-laryngopharyngeal spasm (HELPS) syndrome: The discovery, cure, and characterization of a new neurological condition

2017 ◽  
Vol 44 (S2) ◽  
pp. S11-S11
Author(s):  
C Honey ◽  
M Morrison
Keyword(s):  
Surgical Care ◽  
Review Of The Literature ◽  
The Past ◽  
First Case ◽  
Patient Reported ◽  
Operative Outcome ◽  
Small Cohort ◽  
The Common ◽  
Similar Motor

Background: We published the world’s first case of hemi-laryngpharyngeal spasm (HELPS) syndrome cured by microvascular decompression (MVD) of the Xth cranial nerve in 2016. We now present a small cohort of patients (n=3) successfully treated with surgery in order to better delineate the common characteristics of this syndrome, diagnostic tests of choice, nuances of their surgical care and outcomes of their treatment. Methods: The history and physical examination of three patients with HELPS syndrome are presented. Pre-operative laryngoscopy, neuroimaging, response to botox and intra-operative videos are detailed. Post-operative outcome and complications are presented. Results: Each patient reported similar motor (choking) and sensory (coughing) features in their history. Episodic choking relentlessly progressed over the years until it occurred while sleeping and with frightening severity prompting tracheostomy in one patient and intubation in another. A “tickling” sensation deep in the throat triggered episodic coughing that worsened over the years until it occurred while sleeping and with frightening severity (syncope and incontinence). Conclusions: A review of the literature suggests that patients with similar symptoms, often called episodic laryngospasm in the past, have been treated with psychotherapy or antacids. With the recognition that a clearly defined subset of these patients have HELPS syndrome, we can offer them the potential of a neurosurgical cure.

Fielding and Richardson

PMLA ◽  
1966 ◽  
Vol 81 (5) ◽  
pp. 381-388
Author(s):  
William Park
Keyword(s):  
Twentieth Century ◽  
Eighteenth Century ◽  
Human Nature ◽  
General Type ◽  
Common Ground ◽  
The Other ◽  
The Novel ◽  
Tom Jones ◽  
The Common ◽  
The One

But the Discovery [of when to laugh and when to cry] was reserved for this Age, and there are two Authors now living in this Metropolis, who have found out the Art, and both brother Biographers, the one of Tom Jones, and the other of Clarissa.author of Charlotte SummersRather than discuss the differences which separate Fielding and Richardson, I propose to survey the common ground which they share with each other and with other novelists of the 1740's and 50's. In other words I am suggesting that these two masters, their contemporaries, and followers have made use of the same materials and that as a result the English novels of the mid-eighteenth century may be regarded as a distinct historic version of a general type of literature. Most readers, it seems to me, do not make this distinction. They either think that the novel is always the same, or they believe that one particular group of novels, such as those written in the early twentieth century, is the form itself. In my opinion, however, we should think of the novel as we do of the drama. No one kind of drama, such as Elizabethan comedy or Restoration comedy, is the drama itself; instead, each is a particular manifestation of the general type. Each kind bears some relationship to the others, but at the same time each has its own identity, which we usually call its conventions. By conventions I mean not only stock characters, situations, and themes, but also notions and assumptions about the novel, human nature, society, and the cosmos itself. If we compare one kind of novel to another without first considering the conventions of each, we are likely to make the same mistake that Thomas Rymer did when he blamed Shakespeare for not conforming to the canons of classical French drama.

scholarly journals A Novel Mutation Causing 17-β-Hydroxysteroid Dehydrogenase Type 3 Deficiency in an Omani Child: First Case Report and Review of Literature

2015 ◽  
Vol 30 (2) ◽  
pp. 129-134 ◽  
Author(s):  
Aisha Al-Sinani ◽  
Waad-Allah Mula-Abed ◽  
Manal Al-Kindi ◽  
Ghariba Al-Kusaibi ◽  
Hanan Al-Azkawi ◽  
...  
Keyword(s):  
Case Report ◽  
Novel Mutation ◽  
Hydroxysteroid Dehydrogenase ◽  
Review Of Literature ◽  
First Case ◽  
Type 3

scholarly journals A novel DAX1/NR0B1 mutation in a patient with adrenal hypoplasia congenita and hypogonadotropic hypogonadism

2012 ◽  
Vol 56 (8) ◽  
pp. 496-500 ◽  
Author(s):  
Claudilene Battistin ◽  
Hamilton Cabral de Menezes Filho ◽  
Sorahia Domenice ◽  
Mirian Yumie Nishi ◽  
Thais Della Manna ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Hypogonadotropic Hypogonadism ◽  
Failure To Thrive ◽  
The Novel ◽  
Site Analysis ◽  
Adrenal Hypoplasia Congenita ◽  
Normal Individuals ◽  
Exon 1 ◽  
Adrenal Hypoplasia ◽  
Low Levels

We report a case of adrenal hypoplasia congenita (AHC) and hypogonadotropic hypogonadism (HH) due to a novel DAX1 mutation. A 19-month-old boy with hyperpigmentation and failure to thrive came to our service for investigation. Three brothers of the patient had died due to adrenal failure, and a maternal cousin had adrenal insufficiency. Adrenoleukodystrophy was excluded. MRI showed normal pituitary and hypothalamus. Plasma hormone evaluation revealed high ACTH (up to 2,790 pg/mL), and low levels of androstenedione, DHEA-S, 11-deoxycortisol, and cortisol. At 14 years of age the patient was still prepubescent, his weight was 43.6 kg (SDS: -0.87) and his height was 161 cm (SDS: -0.36), with normal body proportions. In the GnRH test, basal and maximum values of LH and FSH were respectively 0.6/2.1 and < 1.0/< 1.0 U/L. Molecular investigation identified a novel mutation that consists of a deletion of codon 372 (AAC; asparagine) in exon 1 of DAX1. This mutation was not found in a study of 200 alleles from normal individuals. Prediction site analysis indicated that this alteration, located in the DAX1 ligand-binding domain, may damage DAX1 protein. We hypothesize that the novel (p.Asp372del) DAX1 mutation might be able to cause a disruption of DAX1 function, and is probably involved in the development of AHC and HH in this patient. Arq Bras Endocrinol Metab. 2012;56(8):496-500

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