keyword
https://read.qxmd.com/read/38438708/using-mri-derived-observed-to-expected-total-lung-volume-to-predict-lethality-in-fetal-skeletal-dysplasia
#1
EDITORIAL
Dorothy I Bulas, Jamie L Fraser, Kate Cilli
No abstract text is available yet for this article.
March 4, 2024: Pediatric Radiology
https://read.qxmd.com/read/38424183/dyssegmental-dysplasia-rolland-desbuquois-type-is-caused-by-pathogenic-variants-in-hspg2-a-founder-haplotype-shared-in-five-patients
#2
JOURNAL ARTICLE
Paniz Farshadyeganeh, Takahiro Yamada, Hirofumi Ohashi, Gen Nishimura, Hiroki Fujita, Yuriko Oishi, Misa Nunode, Shuku Ishikawa, Jun Murotsuki, Yuri Yamashita, Shiro Ikegawa, Tomoo Ogi, Eri Arikawa-Hirasawa, Kinji Ohno
Dyssegmental dysplasia (DD) is a severe skeletal dysplasia comprised of two subtypes: lethal Silverman-Handmaker type (DDSH) and nonlethal Rolland-Desbuquois type (DDRD). DDSH is caused by biallelic pathogenic variants in HSPG2 encoding perlecan, whereas the genetic cause of DDRD remains undetermined. Schwartz-Jampel syndrome (SJS) is also caused by biallelic pathogenic variants in HSPG2 and is an allelic disorder of DDSH. In SJS and DDSH, 44 and 8 pathogenic variants have been reported in HSPG2, respectively...
February 29, 2024: Journal of Human Genetics
https://read.qxmd.com/read/38282752/targeting-fgfr3-signaling-and-drug-repurposing-for-the-treatment-of-slc26a2-related-chondrodysplasia-in-mouse-model
#3
JOURNAL ARTICLE
Pan Li, Dong Wang, Weiguang Lu, Xin He, Jingyan Hu, Haitao Yun, Chengxiang Zhao, Liu Yang, Qiang Jie, Zhuojing Luo
BACKGROUND: Mutations in Slc26a2 cause a spectrum of autosomal-recessive chondrodysplasia with a significant and negligible influence on the quality of life. It has been reported that Slc26a2 deficiency triggers the ATF6 branch of the UPR, which may, in turn, activate the negative regulator of the FGFR3 signaling pathway. However, the correlation between the deletion of Slc26a2 and the augmentation of downstream phosphorylation of FGFR3 has not been investigated in vivo . METHODS: First, we constructed Slc26a2 and Fgfr3 double knockout mouse lines and observed gross views of the born mice and histological staining of the tibial growth plates...
January 2024: Journal of Orthopaedic Translation
https://read.qxmd.com/read/38185834/fly-clock-my-clock-and-lamin-b-receptor
#4
JOURNAL ARTICLE
Durgadas P Kasbekar
In the fruit fly Drosophila melanogaster , circadian rhythm was disrupted when the inner nuclear membrane protein lamin B receptor (LBR) was depleted from its clock neurons ( Proc. Natl. Acad. Sci. USA 118, e2019756118. 2021; https://doi.org/10. 1073/pnas.2019756118 and Research 6, 0139, 2023; https://doi.org/10.34133/research.0139). Ordinarily, the clock proteinPERIOD (PER) forms foci close to the inner nuclear membrane in the circadian clock's repression phase. The size, number, and location of foci near the nuclear membrane oscillate with a 24-h rhythm...
2024: Journal of Genetics
https://read.qxmd.com/read/38062428/clinical-features-and-genetic-analysis-of-a-case-series-of-skeletal-ciliopathies-in-a-prenatal-setting
#5
JOURNAL ARTICLE
Ying Peng, Lin Zhou, Jing Chen, Xiaoliang Huang, Jialun Pang, Jing Liu, Wanglan Tang, Shuting Yang, Changbiao Liang, Wanqin Xie
BACKGROUND: Short-rib polydactyly syndrome (SRPS) refers to a group of lethal skeletal dysplasias that can be difficult to differentiate between subtypes or from other non-lethal skeletal dysplasias such as Ellis-van Creveld syndrome and Jeune syndrome in a prenatal setting. We report the ultrasound and genetic findings of four unrelated fetuses with skeletal dysplasias. METHODS: Systemic prenatal ultrasound examination was performed in the second or third trimester...
December 7, 2023: BMC Medical Genomics
https://read.qxmd.com/read/38052986/using-mri-derived-observed-to-expected-total-fetal-lung-volume-to-predict-lethality-in-fetal-skeletal-dysplasia
#6
JOURNAL ARTICLE
Amy R Mehollin-Ray, Samantha Stover, Christopher I Cassady, Bin Zhang, Maria Calvo-Garcia, Beth Kline-Fath
BACKGROUND: Pulmonary hypoplasia is the primary cause of perinatal death in lethal skeletal dysplasias. The antenatal ultrasound correlates for lethality are indirect, measuring the thorax (thoracic circumference, TC) or femur compared to the abdomen (TC/AC, FL/AC). A single study has correlated lethality with the observed-to-expected total lung volume (O/E-TFLV) on fetal MRI in 23 patients. OBJECTIVE: Our aim was to define a cutoff value to predict lethality more specifically using MRI-derived O/E-TFLV...
December 5, 2023: Pediatric Radiology
https://read.qxmd.com/read/38010729/-extl3-associated-immunoskeletal-dysplasia-with-neurodevelopmental-abnormalities-a-lethal-phenotype
#7
JOURNAL ARTICLE
Engin Demir, Filiz Adım, Mehmet Ercüment Döğen, Ayşe Aydoğdu, Edanur Yeşil, Serdar Mermer, Burak Başer, Gizem Ürel Demir
Background: Immunoskeletal dysplasia with neurodevelopmental abnormalities (ISDNA) caused by Exostosin-Like Glycosyltransferase 3 (EXTL3) biallelic mutations is a very rare syndrome with only 16 cases reported in the literature. Skeletal dysplasia, neurodevelopmental delay, immunodeficiency, liver, and kidney cysts are the most common findings of this syndrome. Case Presentation: Here, we report on a patient who exhibited a lethal phenotype with clinical characteristics of this syndrome and had a homozygous pathogenic mutation in EXTL3 gene...
November 20, 2023: Pediatric Allergy, Immunology, and Pulmonology
https://read.qxmd.com/read/37932055/diagnosis-of-thanatophoric-dysplasia-using-clinical-exome-screening
#8
JOURNAL ARTICLE
M Holub, M Sekowská, D Smetanová, M Koudová, K Sobolová, A Šinská, H Heřman
Bone dysplasias are a broad, heterogeneous group of diseases. Thanatophoric dysplasia is a rare bone dysplasia, but it is the most common lethal skeletal dysplasias. The major role in diagnostics plays a high-quality ultrasound examination in the 2nd trimester and the latest methods of genetic testing, including clinical exome testing. Knowing the correct diagnosis is crucial for the future of the fetus and the couple.
2023: Ceská Gynekologie
https://read.qxmd.com/read/37797712/mice-heterozygous-for-an-osteogenesis-imperfecta-linked-mbtps2-variant-display-a-compromised-subchondral-osteocyte-lacunocanalicular-network-associated-with-abnormal-articular-cartilage
#9
JOURNAL ARTICLE
Tatyana Danyukova, Assil-Ramin Alimy, Renata Voltolini Velho, Timur A Yorgan, Giorgia Di Lorenzo, Simon von Kroge, Henning Tidow, J Simon Wiegert, Irm Hermans-Borgmeyer, Thorsten Schinke, Tim Rolvien, Sandra Pohl
Missense variants in the MBTPS2 gene, located on the X chromosome, have been associated with an X-linked recessive form of osteogenesis imperfecta (X-OI), an inherited bone dysplasia characterized by multiple and recurrent bone fractures, short stature, and various skeletal deformities in affected individuals. The role of site-2 protease, encoded by MBTPS2, and the molecular pathomechanism underlying the disease is to date elusive. This study is the first to report on the generation of two mouse models of X-OI, a knock-in mouse carrying one of the disease-causative MBTPS2 variants (N455S) and a Mbtps2 knock-out (ko) mouse...
October 3, 2023: Bone
https://read.qxmd.com/read/37761271/skeletal-dysplasia-a-case-report
#10
JOURNAL ARTICLE
Nicolae Gică, Gabriela Mîrza, Corina Gică, Anca Maria Panaitescu, Anca Marina Ciobanu, Gheorghe Peltecu, Iulia Huluță
This paper presents a rare case of fetal hydrops detected at just 23 weeks of gestation in a 22-year-old woman's first pregnancy. The fetal ultrasound revealed severe skeletal anomalies, craniofacial deformities, and thoracic abnormalities, suggesting a complex and severe skeletal dysplasia, potentially type IA Achondrogenesis-a lethal autosomal recessive condition marked by ossification delay. This case highlights the significance of advanced genetic testing, such as next-generation sequencing (NGS) and whole-genome sequencing (WGS), in diagnosing and understanding skeletal dysplasias...
September 11, 2023: Diagnostics
https://read.qxmd.com/read/37698039/mutations-of-family-with-sequence-similarity-20-member-c-gene-causing-lethal-and-nonlethal-raine-syndrome-causes-hypophosphatemia-rickets
#11
JOURNAL ARTICLE
Peihong Liu, Jiaxuan Li, Linghao Tang, Wei Cong, Han Jin, Hong Zhang, Bing Cui, Shan Yang, Jing Xiao, Chao Liu, Wuliji Saiyin
Family with sequence similarity 20-member C (FAM20C) is a kinase specific to most of the secreted phosphoproteome. FAM20C has been identified as the causative gene of Raine syndrome, initially characterized by lethal osteosclerosis bone dysplasia. However, since the identification of the cases of nonlethal Raine syndrome characterized by hypophosphatemia rickets, the previous definition of Raine syndrome has become debatable and raised a question about the role of mutations of FAM20C in controversial skeletal manifestation in the two forms of the disease...
September 12, 2023: Journal of Cellular Physiology
https://read.qxmd.com/read/37678455/anesthetic-considerations-in-the-perioperative-management-of-the-patient-with-jarcho-levin-syndrome
#12
F Rico Rodríguez, D A Camargo Espitia, A Mayoral Márquez, S Ruan Lin, M C Martín Lorenzo
Jarcho-Levin syndrome is an eponym used to describe a spectrum of small thoracic skeletal dysplasias with variable involvement of vertebrae and ribs. Initially considered lethal, it is currently compatible with life in its mildest forms. Bone alterations that lead to a restrictive respiratory pattern, recurrent respiratory infections and particular phenotype, can make perioperative anesthetic management difficult. The proper assessment of the airway is of special interest because it presents predictors of a difficult airway, as well as the prevention, early diagnosis and adequate treatment of respiratory failure...
September 5, 2023: Revista española de anestesiología y reanimación
https://read.qxmd.com/read/37591191/a-new-case-of-melnick-needles-syndrome-with-skeletal-manifestations-a-case-report
#13
Ramin Zargarbashi, Monir Najafi Pirasteh, Ali Nami Damirchi, Parmida Shahbazi
INTRODUCTION AND IMPORTANCE: Melnick-Needles syndrome (MNS) is a rare skeletal dysplasia that affects skeletal and connective tissue. Less than 70 cases of MNS reported in the literature. MNS had various clinical manifestations such as skeletal deformity, cortical bony sclerosis, facial abnormality, and urogenital symptoms. CASE PRESENTATION: We presented a 5-year-old girl who referred to our orthopedic clinic with knee valgus deformity, spinal kyphoscoliosis, bilateral coxa valga, and humerus cortical irregularity...
September 2023: International Journal of Surgery Case Reports
https://read.qxmd.com/read/37555648/defective-airway-intraflagellar-transport-underlies-a-combined-motile-and-primary-ciliopathy-syndrome-caused-by-ift74-mutations
#14
JOURNAL ARTICLE
Mahmoud R Fassad, Nisreen Rumman, Katrin Junger, Mitali P Patel, James Thompson, Patricia Goggin, Marius Ueffing, Tina Beyer, Karsten Boldt, Jane S Lucas, Hannah M Mitchison
Ciliopathies are inherited disorders caused by defective cilia. Mutations affecting motile cilia usually cause the chronic muco-obstructive sinopulmonary disease primary ciliary dyskinesia (PCD) and are associated with laterality defects, while a broad spectrum of early developmental as well as degenerative syndromes arise from mutations affecting signalling of primary (non-motile) cilia. Cilia assembly and functioning requires intraflagellar transport of cargos assisted by IFT-B and IFT-A adaptor complexes...
August 9, 2023: Human Molecular Genetics
https://read.qxmd.com/read/37526276/shortened-fetal-long-bones-a-notable-intrauterine-phenotypic-feature-in-shox-associated-skeletal-dysplasia
#15
JOURNAL ARTICLE
Rong Hu, Weiwei Huang, Congmian Ren, Ling Liu, Yaping Hou, Yunan Wang, Jian Lu
OBJECTIVE: To explore the intrauterine phenotypic spectrum of short stature homeobox-containing (SHOX) gene-associated skeletal dysplasia and provide genetic counseling at-risk pregnancies. METHOD: We analyzed the fetuses with SHOX-microdeletions identified by single nucleotide polymorphism (SNP)-array. The intrauterine phenotypes and outcomes were further elaborated. RESULTS: Nine fetuses carrying a single SHOX-microdeletion were reported, with deletion sizes ranging from 0...
August 1, 2023: Prenatal Diagnosis
https://read.qxmd.com/read/37468326/skeletal-dysplasias-of-the-fetus-and-infant-comprehensive-review-and-our-experience-over-a-10-year-period
#16
REVIEW
Marta Ježová, Denisa Pavlovská, Ilga Grochová, Andrea Michenková, Pavel Vlašín
We present a comprehensive review dealing with rare genetic skeletal disorders. More than 400 entities are included in the latest classification. The most severe or lethal phenotypes are identifiable in the prenatal period and the pregnancy can be terminated. Perinatal autopsy and posmortem X-rays are crucial in providing a definitive diagnosis. The number of cases confirmed by genetic testing is increasing. We report our own experience with genetic skeletal disorders based on 41 illustrative fetal and neonatal cases which we encountered over a 10-year period...
2023: Ceskoslovenská Patologie
https://read.qxmd.com/read/37351952/prenatal-diagnosis-of-bone-dysplasias
#17
REVIEW
Gen Nishimura, Atsuhiko Handa, Osamu Miyazaki, Yuko Tsujioka, Jun Murotsuki, Hideaki Sawai, Takahiro Yamada, Yutaka Kozuma, Yuichiro Takahashi, Katsunori Ozawa, Ritusuko Pooh, Masakatsu Sase
Bone dysplasias are individually rare but collectively common. The prenatal diagnosis of bone dysplasias, especially perinatally lethal dysplasias, is of major interest to obstetric services. The current nosology of genetic skeletal disorders addresses over 400 disorders. However, in clinical practice, we encounter only a limited number of disorders, such as FGFR3-related dysplasias, osteogenesis imperfecta, and type II collagenopathies . The recent development of non-invasive prenatal genetic testing using cell-free fetal DNA in maternal blood samples has had a major impact on the prenatal diagnosis of genetic diseases...
July 2023: British Journal of Radiology
https://read.qxmd.com/read/37347778/autosomal-recessive-hyposegmentation-of-granulocytes-in-australian-shepherd-dogs-indicates-a-role-for-lmbr1l-in-myeloid-leukocytes
#18
JOURNAL ARTICLE
Bianca Lourdes Frehner, Matthias Christen, Iris M Reichler, Vidhya Jagannathan, Marilisa Novacco, Barbara Riond, Laureen M Peters, José Suárez Sánchez-Andrade, Aldona Pieńkowska-Schelling, Claude Schelling, Anja Kipar, Tosso Leeb, Orsolya Balogh
Pelger-Huët anomaly (PHA) in humans is an autosomal dominant hematological phenotype without major clinical consequences. PHA involves a characteristic hyposegmentation of granulocytes (HG). Human PHA is caused by heterozygous loss of function variants in the LBR gene encoding lamin receptor B. Bi-allelic variants and complete deficiency of LBR cause the much more severe Greenberg skeletal dysplasia which is lethal in utero and characterized by massive skeletal malformation and gross fetal hydrops. HG phenotypes have also been described in domestic animals and homology to human PHA has been claimed in the literature...
June 2023: PLoS Genetics
https://read.qxmd.com/read/37295610/paediatric-survivors-beyond-infancy-with-st%C3%A3-ve-wiedemann-syndrome-a-case-series-from-the-west-midlands-uk
#19
JOURNAL ARTICLE
Helen McDermott, Jennifer Simmonds, Manigandan Thyagarajan, Lily Islam, Swati Naik, Hannah Titheradge
Stüve-Wiedemann Syndrome (STWS) is an autosomal recessive condition caused by variants in the LIFR gene, presenting with respiratory failure, hyperthermia and skeletal dysplasia in the neonatal period. Historically identified as a lethal condition, more children are now managed holistically from early in life with multidisciplinary team involvement with improved outcomes. This stems from early diagnosis, supported by molecular testing in the pre and postnatal periods. This report includes five such cases with survival in childhood to 10 years old in the UK affected by skeletal abnormalities, hyperthermia, respiratory distress and their diagnostic odyssey...
June 7, 2023: European Journal of Medical Genetics
https://read.qxmd.com/read/37294397/interventions-for-improving-clinical-outcomes-and-health-related-quality-of-life-for-people-living-with-skeletal-dysplasias-an-evidence-gap-map
#20
REVIEW
Naomi Moy, Darren Flynn, Josefa Henriquez, Luke B Connelly, Luke Vale, Francesco Paolucci
PURPOSE: Skeletal dysplasias are rare genetic disorders that are characterized by abnormal development of bone and cartilage. There are multiple medical and non-medical treatments for specific symptoms of skeletal dysplasias e.g. pain, as well as corrective surgical procedures to improve physical functioning. The aim of this paper was to develop an evidence-gap map of treatment options for skeletal dysplasias, and their impact on patient outcomes. METHODS: We conducted an evidence-gap map to identify the available evidence on the impact of treatment options on people with skeletal dysplasias on clinical outcomes (such as increase in height), and dimensions of health-related quality of life...
June 9, 2023: Quality of Life Research
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