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1. Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features

Author:
Simonetta Rosato; Sheila Unger; Belinda Campos-Xavier; Stefano Giuseppe Caraffi; Laura Beltrami; Marzia Pollazzon; Ivan Ivanovski; Marco Castori; Maria Paola Bonasoni; Giuseppina Comitini; Peter G. J. Nikkels; Kristin Lindstrom; Christine Umandap; Andrea Superti-Furga; Livia Garavelli
Source:
Genes 2022 v.13 no.2 pp. -
ISSN:
2073-4425
Subject:
abnormal development,   etc   ; genes; heterozygosity; skull; ultrasonics;     Show all 5 Subjects
Abstract:
... Osteocraniostenosis (OCS, OMIM #602361) is a severe, usually lethal condition characterized by gracile bones with thin diaphyses, a cloverleaf-shaped skull and splenic hypo/aplasia. The condition is caused by heterozygous mutations in the FAM111A gene and is allelic to the non-lethal, dominant disorder Kenny-Caffey syndrome (KCS, OMIM #127000). Here we report two new cases of OCS, including one wi ...
DOI:
10.3390/genes13020261

2. Recent progress in liquid embolic agents

Author:
Giho Ko; Jin Woo Choi; Nohyun Lee; Dokyoon Kim; Taeghwan Hyeon; Hyo-Cheol Kim
Source:
Biomaterials 2022 v.287 pp. 121634
ISSN:
0142-9612
Subject:
abnormal development,   etc   ; aneurysm; biocompatible materials; blood; liquids;     Show all 5 Subjects
Abstract:
... Vascular embolization is a non-surgical procedure used to treat diseases or morbid conditions related to blood vessels, such as bleeding, arteriovenous malformation, aneurysm, and hypervascular tumors, through the intentional occlusion of blood vessels. Among various types of embolic agents that have been applied, liquid embolic agents are gaining an increasing amount of attention owing to their a ...
DOI:
10.1016/j.biomaterials.2022.121634

3. Epidemiological study of congenital malformations of the vertebral column in French bulldogs, English bulldogs and pugs

Author:
Felix Lackmann; Franck Forterre; Leo Brunnberg; Shenja Loderstedt
Source:
Veterinary record 2022 v.190 no.1 pp. e509
ISSN:
0042-4900
Subject:
abnormal development,   etc   ; dogs; epidemiological studies; orthopedics; tail; Germany;     Show all 6 Subjects
Abstract:
... BACKGROUND: Congenital vertebral body malformations (CVBMs) have retrospectively been investigated in British and American canine populations. This study prospectively evaluates occurrence, localization, type and characteristic of CVBM along the entire vertebral column in a cohort of French Bulldogs, English Bulldogs and Pug dogs from Germany. METHODS: Prospective clinical and radiological screeni ...
DOI:
10.1002/vetr.509

4. Large Colon Volvulus in a Neonatal Foal Secondary to Atresia Coli

Author:
K.F. McGovern; R.L. Gough
Source:
Journal of equine veterinary science 2022 pp. 104114
ISSN:
0737-0806
Subject:
abnormal development,   etc   ; colon; foals; histopathology; necropsy; veterinary medicine;     Show all 6 Subjects
Abstract:
... An 18 hour old foal presented with a suspected meconium impaction. There was no response to treatment and a tentative diagnosis of atresia coli (AC) was made. Surgical intervention was declined and the foal was euthanased 12 hours after admission. Type 3 AC was confirmed on post-mortem examination, with the colon ending at the left ventral colon. A 1080ᵒ large colon volvulus (LCV) at the sternal f ...
DOI:
10.1016/j.jevs.2022.104114

5. Abnormal hyoid conformation in French Bulldogs: case report and computed tomographic anatomical comparison

Author:
BW de Bruyn; G Hosgood
Source:
Australian veterinary journal 2022 v.100 no.1-2 pp. 63-66
ISSN:
0005-0423
Subject:
abnormal development,   etc   ; French Bulldog; case studies; computed tomography; skull;     Show all 5 Subjects
Abstract:
... BACKGROUND: Brachycephalic obstructive airway syndrome (BOAS) is common in brachycephalic breeds and comprises multiple anatomic characteristics. Computed tomography (CT) is increasingly used in the preoperative assessment of dogs presenting with BOAS. We describe the case of a French Bulldog with a presumed congenital hyoid malformation and anatomic comparison of hyoid morphology between French B ...
DOI:
10.1111/avj.13120

6. Potato Periderm Development and Tuber Skin Quality

Author:
Pawan Kumar; Idit Ginzberg
Source:
Plants 2022 v.11 no.16 pp. -
ISSN:
2223-7747
Subject:
abnormal development,   etc   ; cambium; cork; models; pathogens; periderm; potatoes; suberization;     Show all 8 Subjects
Abstract:
... The periderm is a corky tissue that replaces the epidermis when the latter is damaged, and is critical for preventing pathogen invasion and water loss. The periderm is formed through the meristematic activity of phellogen cells (cork cambium). The potato skin (phellem cells) composes the outer layers of the tuber periderm and is a model for studying cork development. Early in tuber development and ...
DOI:
10.3390/plants11162099

7. Complex vascular anomalies and tissue overgrowth of limbs associated with increased skin temperature and peripheral venous dilatation: parks weber syndrome or PROS?

Author:
Li Xin Su; Yi Sun; Zhenfeng Wang; Deming Wang; Xitao Yang; Lianzhou Zheng; Mingzhe Wen; Xindong Fan; Ren Cai
Source:
Hereditas 2022 v.159 no.1 pp. 1
ISSN:
1601-5223
Subject:
abnormal development,   etc   ; angiography; genes; mutation; patients; phenotype; skin temperature;     Show all 7 Subjects
Abstract:
... PIK3CA-related overgrowth spectrum (PROS) is a series of congenital, sporadic disorders that are associated with segmental overgrowth phenotypes and postzygotic, somatic gene mutations in the PIK3CA-ATK-mTOR pathway. The variability and overlapping phenotypes between PROS and other complex vascular malformations make the differential diagnosis confusing and challenging. PROS should be considered f ...
DOI:
10.1186/s41065-021-00217-6

8. First Record of Forelimb and Hindlimb Abnormalities in the Genus Scincella (Squamata: Scincidae)

Author:
Yuki Koizumi; Takashi O. Yato
Source:
Current herpetology 2022 v.41 no.2 pp. 248-253
ISSN:
1881-1019
Subject:
abnormal development,   etc   ; Scincidae; herpetology; hindlimbs; metacarpus; micro-computed tomography; phylogeny;     Show all 7 Subjects
Abstract:
... Observations of the osteological features of malformations in lizards are currently limited. In examinations of ca. 1,300 Scincella specimens, one Scincella lateralis specimen and three S. boettgeri specimens were observed to have malformed digits, i.e., ectrodactyly. Each of these specimens had a malformation in only one limb. One S. lateralis specimen lacked digits I–III of manus, and three S. b ...
DOI:
10.5358/hsj.41.248

9. Maize GSK3-like kinase ZmSK2 is involved in embryonic development

Author:
Yan Wang; Jianghai Xu; Jingjuan Yu; Dengyun Zhu; Qian Zhao
Source:
Plant science 2022 v.318 pp. 111221
ISSN:
0168-9452
Subject:
abnormal development,   etc   ; Arabidopsis; auxins; corn; crop yield; embryogenesis; phosphorylation; protoplasts;     Show all 8 Subjects
Abstract:
... Grain size and weight are closely related to the yield of cereal crops. Abnormal development of the embryo, an important part of the grain, not only affects crop yield but also impacts next-generation survival. Here, we found that maize GSK3-like kinase ZmSK2, a homolog of BIN2 in Arabidopsis, is involved in embryonic development. ZmSK2 overexpression resulted in severe BR defective phenotypes and ...
DOI:
10.1016/j.plantsci.2022.111221

10. Design strategy for an analyte-compensated fluorescent probe to reduce its toxicity

Author:
Jinlong Zhang; Shuai Mu; Weilin Wang; Huipeng Sun; Shuangqin Li; Xuezhao Shi; Yunbo Liu; Xiaoyan Liu; Haixia Zhang
Source:
Chemical communications 2022 v.58 no.65 pp. 9136-9139
ISSN:
1364-548X
Subject:
abnormal development,   etc   ; Danio rerio; fluorescent dyes; liver cirrhosis; mortality; rats; toxicity;     Show all 7 Subjects
Abstract:
... During biological detection, the toxicity caused by probes to living organisms is neglected. In this study, an analyte-compensated fluorescent probe (NP-SN₃) was constructed for the detection of H₂S. Through experiments with HepG2 cells and zebrafish embryos and larvae, the NP-SN₃ probe showed no significant difference in imaging performance compared with the traditional probe (NP-N₃) but exhibite ...
DOI:
10.1039/d2cc02789e

11. Mutations in RPS19 may affect ribosome function and biogenesis in Diamond Blackfan anemia

Author:
Disha‐Gajanan Hiregange; Andre Rivalta; Ada Yonath; Ella Zimmerman; Anat Bashan; Hagith Yonath
Source:
FEBS Open Bio 2022 v.12 no.7 pp. 1419-1434
ISSN:
2211-5463
Subject:
abnormal development,   etc   ; RNA; anemia; biogenesis; genetic code; pseudogenes; ribosomes; sequence analysis;     Show all 8 Subjects
Abstract:
... Ribosomes, the cellular organelles translating the genetic code to proteins, are assemblies of RNA chains and many proteins (RPs) arranged in precise fine‐tuned interwoven structures. Mutated ribosomal genes cause ribosomopathies, including Diamond Blackfan anemia (DBA, a rare heterogeneous red‐cell aplasia connected to ribosome malfunction) or failed biogenesis. Combined bioinformatical, structur ...
DOI:
10.1002/2211-5463.13444

12. Granulosa cells affect in vitro maturation and subsequent parthenogenetic development of buffalo (Bubalus bubalis) oocytes

Author:
Jun Zhang; Haoxin Wang; Jiaka Lu; Qing Yu; Penghui Fu; Zhengda Li; Yun Feng; Yanxin Wang; Yanfei Deng; Deshun Shi; Fenghua Lu
Source:
Reproduction in domestic animals 2022 v.57 no.2 pp. 141-148
ISSN:
0936-6768
Subject:
abnormal development,   etc   ; Bubalus bubalis; blastocyst; buffaloes; embryogenesis; follicular development; oocytes; parthenogenesis;     Show all 8 Subjects
Abstract:
... Granulosa cells (GCs) play a crucial role in follicular development and atresia. Previous studies have showed that GCs in the form of monolayer influenced in vitro maturation (IVM) of oocytes. However, the effects of GCs in the form of conditioned medium and monolayer on IVM and development competence of buffalo oocytes remain unclear. In the present study, we examined the impacts of GC‐conditione ...
DOI:
10.1111/rda.13974

13. Population Reproductive Structure of Rainbow Trout Determined by Histology and Advancing Methods to Assign Sex and Assess Spawning Capability

Author:
James A. Crossman; Molly A. H. Webb; Josh Korman; Michael D. Yard
Source:
Transactions of the American Fisheries Society 2022 v.151 no.4 pp. 422-440
ISSN:
0002-8487
Subject:
abnormal development,   etc   ; Oncorhynchus mykiss; fish; gametogenesis; histology; probability; terminology; ultrasonography; Colorado River;     Show all 9 Subjects
Abstract:
... Rainbow Trout Oncorhynchus mykiss have been intensively studied and gametogenesis has been described, but the use of reproductive indices in field studies has not been widely applied when assessing variability in growth or recruitment dynamics. We integrated descriptions for gametogenesis within the framework of standardized terminology for reproductive development in teleosts to develop sex‐speci ...
DOI:
10.1002/tafs.10356

14. Prenatal Diagnosis of Talipes Equinovarus by Ultrasound and Chromosomal Microarray Analysis: A Chinese Single-Center Retrospective Study

Author:
Ruibin Huang; Xin Yang; Hang Zhou; Fang Fu; Ken Cheng; You Wang; Chunling Ma; Ru Li; Xiangyi Jing; Jin Han; Li Zhen; Min Pan; Dongzhi Li; Can Liao
Source:
Genes 2022 v.13 no.9 pp. -
ISSN:
2073-4425
Subject:
abnormal development,   etc   ; databases; etiology; karyotyping; medical records; microarray technology; probability; retrospective studies; ultrasonics;     Show all 9 Subjects
Abstract:
... Background: There are few studies on the detection rate by chromosomal microarray analysis (CMA) of the prenatal diagnosis of talipes equinovarus (TE) compared to conventional karyotyping. We aimed to explore the molecular etiology of fetal TE and examine the detection rate by CMA, which provides more information for the clinical screening and genetic counseling of TE. Methods: In this retrospecti ...
DOI:
10.3390/genes13091573

15. Removal of high-concentration 4 - Chlorophenol (4-CP) in wastewater using carbon-based heterogeneous catalytic oxidation: Performance and mechanism

Author:
Yanqiong Wang; Hongwu Wang; Lei Wang; Boqiao Cai; Hongbin Chen
Source:
Journal of cleaner production 2022 v.346 pp. 131176
ISSN:
0959-6526
Subject:
abnormal development,   etc   ; Danio rerio; adsorption; dechlorination; mortality; oxidation; pH; qualitative analysis; toxicity; wastewater;     Show all 10 Subjects
Abstract:
... The treatment of large quantities of 4-CP wastewater produced in chemical industries has attracted considerable attention due to its high biotoxicity and refractory nature. The heterogeneous Fenton system initiated by carbon-based iron material (HACO-P) was applied to degrade the high concentration 4-CP (2 g/L) wastewater under ambient condition. HACO-P presented excellent adsorption performance w ...
DOI:
10.1016/j.jclepro.2022.131176

16. The molecular genetics of human appendicular skeleton

Author:
Safeer Ahmad; Muhammad Zeeshan Ali; Muhammad Muzammal; Fayaz Ahmad Mir; Muzammil Ahmad Khan
Source:
Molecular genetics and genomics 2022 v.297 no.5 pp. 1195-1214
ISSN:
1617-4615
Subject:
abnormal development,   etc   ; embryology; genes; genomics; humans; locomotion; molecular genetics; pathophysiology; skeleton; systematic review;     Show all 10 Subjects
Abstract:
... Disorders that result from de-arrangement of growth, development and/or differentiation of the appendages (limbs and digit) are collectively called as inherited abnormalities of human appendicular skeleton. The bones of appendicular skeleton have central role in locomotion and movement. The different types of appendicular skeletal abnormalities are well described in the report of “Nosology and Cla ...
DOI:
10.1007/s00438-022-01930-1

17. Diagnostic utility of specific abnormal EEG patterns in children for determining epilepsy phenotype and presence of structural brain abnormalities

Author:
Mohammed Ashour; Erica Minato; Abdulla Alawadhi; Saoussen Berrahmoune; Elisabeth Simard-Tremblay; Chantal Poulin; Kenneth A. Myers
Source:
Heliyon 2022 v.8 no.8 pp. e10172
ISSN:
2405-8440
Subject:
abnormal development,   etc   ; brain; case-control studies; childhood; databases; decision making; epilepsy; phenotype; sleep;     Show all 9 Subjects
Abstract:
... Estimate sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV) of EEG findings: centrotemporal spikes, photoparoxysmal response, asymmetric photic driving, and asymmetric sleep spindles, for epilepsy phenotype and presence of structural brain abnormalities. In this case-control study we reviewed children referred for EEG over a 4-year period, with at least o ...
DOI:
10.1016/j.heliyon.2022.e10172

18. Integrated fibroblast growth factor signal disruptions in human iPS cells for prediction of teratogenic toxicity of chemicals

Author:
Seiya Kanno; Yusuke Okubo; Tatsuto Kageyama; Lei Yan; Junji Fukuda
Source:
Journal of bioscience and bioengineering 2022 v.133 no.3 pp. 291-299
ISSN:
1389-1723
Subject:
abnormal development,   etc   ; fibroblast growth factors; guidelines; humans; morphogenesis; pharmacokinetics; prediction; teratogenicity; toxic substances;     Show all 9 Subjects
Abstract:
... The number of man-made chemicals has increased rapidly in recent decades, with certain chemicals potentially causing malformations in fetuses. Although the toxicities of chemicals have been tested in animals, chemicals that are not teratogenic in rodents can cause severe malformations in humans, owing to the differences in the susceptibility to the teratogenicity of chemicals among species. One po ...
DOI:
10.1016/j.jbiosc.2021.12.006

19. Studies on Gonad Histology and Length at First Maturity of the Rainbow Trout Oncorhynchus mykiss Walbaum, 1792 (Salmoniformes: Salmonidae) from Kashmir

Author:
A. Wali; T.H. Shah; F.A. Bhat; I. Mohd
Source:
Indian journal of ecology 2022 v.49 no.1 pp. 178-182
ISSN:
0304-5250
Subject:
abnormal development,   etc   ; Oncorhynchus mykiss; abdominal cavity; blood; histology; oocytes; trout; zona pellucida; India;     Show all 9 Subjects
Abstract:
... The present study was conducted on gonad histology and length at first maturity of the rainbow trout Oncorhynchus mykiss Walbaum 1792. The length at first maturity recorded was at 28.7cm. Histological snaps of immature phase revealed the ovigerous lamellae containing oogonial nests. Early maturing phase showed vascularisation and initiation of yolk formation with the ovaries start occupying the sp ...
DOI:
10.55362/IJE/2022/3499

20. Phototoxicity effects of NIR-irradiated cesium tungsten oxide (Cs0.33WO3) nanoparticles on zebrafish embryos: A direct immersion study

Author:
Chi-An Chen; Ho-Ching Hsiao; Yu-Hang Cheng; Po-Yi Wu; Po-Sheng Hu
Source:
Toxicology reports 2022 v.9 pp. 1120-1129
ISSN:
2214-7500
Subject:
abnormal development,   etc   ; Danio rerio; biomedical research; cesium; embryogenesis; human health; phototoxicity; toxicology; tungsten oxide;     Show all 9 Subjects
Abstract:
... Nanoparticles (NPs) with feature sizes ranging between 1 nm and 100 nm have increasingly gained momentum for their versatile functionality as the pharmaceutical agents in many branches of biomedical research and clinical experiments. However, NPs’ inherent material toxicity and the concomitant adverse effects of their function, such as photo-physical properties, often remain a major concern over t ...
DOI:
10.1016/j.toxrep.2022.05.006