First Report of a Known Pathogenic Variant in the FZD6 Gene, in an Iranian Family with Recessive Nail Dysplasia: A Case Re-port

2020 ◽  
Author(s):  
Mirsajjad MOUSAVI-ASL GERMEH CHESHMEH ◽  
Ali NAJIZADEH ◽  
Saied HOSSEINI-ASL ◽  
Hooshang ZAIMKOHAN ◽  
Roshanak JAZAYERI
Keyword(s):  
Autosomal Recessive ◽  
Case Reports ◽  
Pathogenic Variant ◽  
Nail Dystrophy ◽  
First Report ◽  
Iranian Family ◽  
Northwestern Iran ◽  
Nail Dysplasia ◽  
First Time

Congenital Nail abnormalities are rare ectodermal defects. Autosomal recessive nail dysplasia is much rarer. Recently it has been recognized as a condition resulting in nail dystrophy in the absence of other cutaneous or extracutaneous disorders. Few case reports have identified mutations in the Frizzled 6 (FZD6) gene in families presenting with abnormal nails consistent with Non-Syndromic Congenital Nail Dysplasia. We report a family presenting, they lived in Namin a country of the Ardabil Province, northwestern Iran in 2016, for the first time in Iran in whom we identified mutations in FZD6 with abnormal nails formation.

scholarly journals A novel pathogenic variant in the LRTOMT gene causes autosomal recessive non-syndromic hearing loss in an Iranian family

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Akram Sarmadi ◽  
Samane Nasrniya ◽  
Maryam Soleimani Farsani ◽  
Sina Narrei ◽  
Zahra Nouri ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Autosomal Recessive ◽  
Pathogenic Variant ◽  
Iranian Family ◽  
Syndromic Hearing Loss

scholarly journals A novel pathogenic variant in the MARVELD2 gene causes autosomal recessive non-syndromic hearing loss in an Iranian family

Genomics ◽  
2019 ◽  
Vol 111 (4) ◽  
pp. 840-848 ◽  
Author(s):  
Afsaneh Taghipour-Sheshdeh ◽  
Fatemeh Nemati-Zargaran ◽  
Narges Zarepour ◽  
Parisa Tahmasebi ◽  
Nader Saki ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Autosomal Recessive ◽  
Pathogenic Variant ◽  
Iranian Family ◽  
Syndromic Hearing Loss

First report of Rinamba opacicollis Cameron (Hymenoptera: Braconidae, Doryctinae) in India as parasitoid of coffee stem borer, Xylotrechus quadripes (Chevrolat) (Coleoptera: Cerambycidae)

ENTOMON ◽  
2020 ◽  
Vol 44 (4) ◽  
pp. 311-314
Author(s):  
A. Roobakkumar ◽  
H.G. Seetharama ◽  
P. Krishna Reddy ◽  
M.S. Uma ◽  
A. P. Ranjith
Keyword(s):  
Integrated Control ◽  
Host Record ◽  
Stem Borer ◽  
Arabica Coffee ◽  
First Report ◽  
The World ◽  
First Time

Rinamba opacicollis Cameron (Hymenoptera: Braconidae) was collected from Chikkamagaluru, Karnataka, India for the first time from the larvae of white stem borer, Xylotrechus quadripes Chevrolat infesting arabica coffee. Its role in the biological or integrated control of X. quadripes remains to be evaluated. White stem borer could be the first host record of this parasitoid all over the world.

scholarly journals First Report of a Gall Midge Species (Diptera: Cecidomyiidae) Associated With Pistachios

2020 ◽  
Vol 11 (1) ◽  
Author(s):  
Farshid O Sirjani ◽  
Edwin E Lewis
Keyword(s):  
Gall Midge ◽  
Species Level ◽  
Plant Tissues ◽  
First Report ◽  
Branch Dieback ◽  
First Time ◽  
Level Identification

Abstract A new dipterous pest is reported, for the first time, on commercial pistachios from Sirjan, Kerman province, Iran. The genus of the insect was determined to be Resseliella Seitner (Diptera: Cecidomyiidae). Adults are light brown to brown in color and 0.8–1.5 mm in length with females, generally, slightly larger than males. Females have an elongated ovipositor, which is characteristic of the genus. Larvae are orange in color, 2–3 mm in length in the later instars, feed under bark without inducing galls, and cause branch dieback on trees of various ages. Brown to black discolorations are observed on plant tissues under bark where the larvae feed. Infestations observed on current and the previous—year’s growths, ranged from 0.5 to 1.2 cm in diameter, and all located in outer branches. Dry leaves and fruit clusters on infested branches remain attached, which may be used to recognize infestation by the gall midge. Dark-colored, sunken spots with splits on the bark located at the base of the wilted sections of the shoots also are symptoms of Resseliella sp. larval activity. Species-level identification of the gall midge is currently underway.

scholarly journals First Report of Echinococcus ortleppi in Free-Living Wild Boar (Sus scrofa) from Portugal

2021 ◽  
Vol 9 (6) ◽  
pp. 1256
Author(s):  
Teresa Letra Mateus ◽  
Maria João Gargaté ◽  
Anabela Vilares ◽  
Idalina Ferreira ◽  
Manuela Rodrigues ◽  
...  
Keyword(s):  
Wild Boar ◽  
Internal Transcribed Spacer ◽  
Sus Scrofa ◽  
One Health ◽  
Control Strategies ◽  
Free Living ◽  
First Report ◽  
Wildlife Reservoirs ◽  
First Time ◽  
Echinococcus Granulosus Sensu Lato

Cystic echinococcosis (CE) is a zoonosis that is prevalent worldwide. It is considered endemic in Portugal but few studies have been performed on Echinococcus granulosus sensu lato and their hosts. In this study, CE cysts are reported for the first time in a free-living wild boar (Sus scrofa) in Portugal. The presence of the metacestodes in the liver of the wild boar was identified by morphological features, microscopic examination and molecular analysis. The sequencing of part of the DNA nuclear ribosomal internal transcribed spacer-1 (ITS-1) region revealed a G5 genotype that presently corresponds to Echinococcus ortleppi. This is the first report of E. ortleppi in Portugal and to the best of the authors’ knowledge, in Europe. These results suggest that wild boar may be a host of CE, namely, crossing the livestock–wildlife interface, which has important public health implications. Wildlife reservoirs must be taken into account as CE hosts and surveillance of game as well as health education for hunters should be implemented using a One Health approach, with implementation of feasible and tailor-made control strategies, namely, proper elimination of byproducts in the field.

A novel POU1F1 pathogenic variant: Two familial case reports with phenotype expansion

2021 ◽  
Author(s):  
Noha Musa ◽  
Mohamed A. Elmonem ◽  
Christian Beetz ◽  
Mona Hafez ◽  
Mona Hassan ◽  
...  
Keyword(s):  
Case Reports ◽  
Pathogenic Variant ◽  
Familial Case

scholarly journals First Report of Wisteria vein mosaic virus in Wisteria sinensis in the United States of America

2008 ◽  
Vol 9 (1) ◽  
pp. 42 ◽  
Author(s):  
Rayapati A. Naidu ◽  
Gandhi Karthikeyan
Keyword(s):  
United States ◽  
Mosaic Virus ◽  
United States Of America ◽  
The United States ◽  
Home Gardens ◽  
First Report ◽  
Woody Perennial ◽  
Wisteria Sinensis ◽  
First Time ◽  
Wisteria Vein Mosaic Virus

The ornamental Chinese wisteria (Wisteria sinensis) is a woody perennial grown for its flowering habit in home gardens and landscape settings. In this brief, the occurrence of Wisteria vein mosaic virus (WVMV) was reported for the first time in Chinese wisteria in the United States of America. Accepted for publication 18 June 2008. Published 18 August 2008.

Antidiabetic and Antioxidant Activities of Major Flavonoids of Cynanchum acutum L. (Asclepiadaceae) Growing in Egypt

2008 ◽  
Vol 63 (9-10) ◽  
pp. 658-662 ◽  
Author(s):  
Ghada A. Fawzy ◽  
Hossam M. Abdallah ◽  
Mohamed S. A. Marzouk ◽  
Fathy M. Soliman ◽  
Amany A. Sleem
Keyword(s):  
Blood Glucose ◽  
Spectroscopic Data ◽  
Methanolic Extract ◽  
Antioxidant Activities ◽  
First Report ◽  
Insulin Levels ◽  
Butanol Fraction ◽  
Aerial Parts ◽  
First Time

Seven flavonoids were isolated from the butanol fraction of the methanolic extract of the aerial parts of Cynanchum acutum L. (Asclepiadaceae). All of which have been isolated for the first time from the genus Cynanchum. Their structures were established as quercetin 3-O-β-galacturonopyranoside (1), quercetin 7-O-β-glucopyranoside (2), tamarixtin 3-O-β-galacturonopyranoside (3), kaempferol 3-O-β-galacturonopyranoside (4), 8-hydroxyquercetin 3-O-β-galactopyranoside (5), tamarixtin 3-O-α-rhamnopyranoside (6), and tamarixtin 7-O-α-arabinopyranoside (7) on the basis of their chromatographic properties, chemical and spectroscopic data. The major isolated flavonoids 1, 2 and 3 were found to exhibit significant antioxidant and antidiabetic activities (by measuring blood glucose and insulin levels). This is the first report about the antioxidant and antidiabetic activities of compounds 1 - 3.

Arginase Deficiency Presenting as Cerebral Palsy

PEDIATRICS ◽  
1993 ◽  
Vol 91 (5) ◽  
pp. 995-996
Author(s):  
ANGELA E. SCHEUERLE ◽  
ROBERT MCVIE ◽  
ARTHUR L. BEAUDET ◽  
STUART K. SHAPIRA
Keyword(s):  
Cerebral Palsy ◽  
Autosomal Recessive ◽  
Urea Cycle ◽  
Case Reports ◽  
Growth Failure ◽  
Autosomal Recessive Disorder ◽  
Psychomotor Retardation ◽  
Uncomplicated Pregnancy ◽  
Arginase Deficiency ◽  
Cycle Disorders

Arginase catalyzes the conversion of arginine to ornithine and urea in the final step of the urea cycle. The enzyme deficiency disease, argininemia, is a rare autosomal recessive disorder which presents with progressive psychomotor retardation, growth failure, seizures, and spasticity affecting the lower extremities more than the upper.1 It does not, however, commonly have the severe hyperammonemia seen with other urea cycle disorders.1,2 We describe two unrelated patients, previously thought to have cerebral palsy, who were later found to have arginase deficiency. This suggests that the condition may be underdiagnosed because of its relatively mild symptoms. CASE REPORTS Patient 1, a 9-year-old boy, was born at term after an uncomplicated pregnancy to nonconsanguineous African-American parents.

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