Patterson-Lowry rhizomelic dysplasia: a potentially lethal bone dysplasia?

2001 ◽  
Vol 31 (2) ◽  
pp. 81-83 ◽  
Author(s):  
T. Kamoda ◽  
R. Nakajima ◽  
A. Matsui ◽  
G. Nishimura
Keyword(s):  
Bone Dysplasia

scholarly journals Neu1 deficiency induces abnormal emotional behavior in zebrafish

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Asami Ikeda ◽  
Mayu Komamizu ◽  
Akito Hayashi ◽  
Chiharu Yamasaki ◽  
Keiji Okada ◽  
...  
Keyword(s):  
Bone Dysplasia ◽  
Preference Test ◽  
Sialic Acids ◽  
Emotional Behavior ◽  
Facial Dysmorphism ◽  
Wild Type ◽  
White Region ◽  
Neu1 Sialidase ◽  
Black Region ◽  
Pituitary Adrenal Axis

AbstractNEU1 sialidase hydrolyzes sialic acids from glycoconjugates in lysosomes. Deficiency of NEU1 causes sialidosis with symptoms including facial dysmorphism, bone dysplasia, and neurodegeneration. However, the effects of NEU1 deficiency on emotional activity have not been explored. Here, we conducted the behavioral analysis using Neu1-knockout zebrafish (Neu1-KO). Neu1-KO zebrafish showed normal swimming similar to wild-type zebrafish (WT), whereas shoaling was decreased and accompanied by greater inter-fish distance than WT zebrafish. The aggression test showed a reduced aggressive behavior in Neu1-KO zebrafish than in WT zebrafish. In the mirror and 3-chambers test, Neu1-KO zebrafish showed more interest toward the opponent in the mirror and multiple unfamiliar zebrafish, respectively, than WT zebrafish. Furthermore, Neu1-KO zebrafish also showed increased interaction with different fish species, whereas WT zebrafish avoided them. In the black–white preference test, Neu1-KO zebrafish showed an abnormal preference for the white region, whereas WT zebrafish preferred the black region. Neu1-KO zebrafish were characterized by a downregulation of the anxiety-related genes of the hypothalamic–pituitary–adrenal axis and upregulation of lamp1a, an activator of lysosomal exocytosis, with their brains accumulating several sphingoglycolipids. This study revealed that Neu1 deficiency caused abnormal emotional behavior in zebrafish, possibly due to neuronal dysfunction induced by lysosomal exocytosis.

Mixed sclerosing bone dysplasia—a case report with literature review

2003 ◽  
Vol 27 (3) ◽  
pp. 203-205 ◽  
Author(s):  
Sandeep Ghai ◽  
Raju Sharma ◽  
Sangeet Ghai
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Bone Dysplasia ◽  
Sclerosing Bone Dysplasia

Raine syndrome: A rare lethal osteosclerotic bone dysplasia. Prenatal diagnosis, autopsy, and neuropathological findings

2007 ◽  
Vol 143A (24) ◽  
pp. 3280-3285 ◽  
Author(s):  
David Chitayat ◽  
Patrick Shannon ◽  
Sarah Keating ◽  
Ants Toi ◽  
Susan Blaser ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Bone Dysplasia ◽  
Raine Syndrome

scholarly journals Van Buchem Disease: First Case Report from the Indian Subcontinent with an Early Presentation

2021 ◽  
Vol 11 (01) ◽  
pp. e38-e41
Author(s):  
Saurabh Maheshwari ◽  
Sonam Yangzom ◽  
K. Uday Bhanu ◽  
Uddandam Rajesh ◽  
Ashok Narayan
Keyword(s):  
Western Europe ◽  
Indian Subcontinent ◽  
Genetic Disorder ◽  
Rare Condition ◽  
Bone Dysplasia ◽  
Feedback Mechanism ◽  
Early Presentation ◽  
First Case ◽  
Cranial Nerve Palsies ◽  
Van Buchem Disease

AbstractVan Buchem disease is a rare autosomal recessive genetic disorder that causes a compromised inhibitory feedback mechanism resulting in increased bone formation and overgrowth of the skeleton leading to a variety of neurological symptoms. It has been reported in less than 50 patients most of which were in western Europe. We report the first case of this condition from the Indian subcontinent with an early presentation. This patient presented with a global delay in attaining the developmental milestones and progressive reduction in visual acuity and loss of hearing. He had dysmorphic facies, multiple cranial nerve palsies, and severe visual and auditory deficits. Imaging revealed sclerosing bone dysplasia. This case illustrates the clinical and imaging findings of this rare condition.

Spondylo-megaepiphyseal-metaphyseal dysplasia: an unusual bone dysplasia

2003 ◽  
Vol 33 (12) ◽  
pp. 893-896 ◽  
Author(s):  
Prachi Pragya Agarwal ◽  
Ashok Srinivasan ◽  
Raju Sharma ◽  
Madhulika Kabra ◽  
Arun Kumar Gupta
Keyword(s):  
Bone Dysplasia ◽  
Metaphyseal Dysplasia

scholarly journals Treatment of precocious puberty in a McCune–Albright syndrome patient using Chinese medicinal herbs combined with megestrol acetate: A case report

2018 ◽  
Vol 01 (01) ◽  
pp. 69-74
Author(s):  
Wen Sun ◽  
Yonghong Wang ◽  
Jian Yu ◽  
Min Ji
Keyword(s):  
Precocious Puberty ◽  
Bone Dysplasia ◽  
Medicinal Herbs ◽  
Megestrol Acetate ◽  
Chinese Medicinal Herbs ◽  
Gene Encoding ◽  
Mccune Albright Syndrome ◽  
Activating Mutation ◽  
Albright Syndrome ◽  
Mccune Albright

Introduction: McCune–Albright Syndrome (MAS) is a rare congenital sporadic disorder characterized by fibrous bone dysplasia, café-au-lait pigmented spots on the skin, and non-gonadotropin dependent precocious puberty (PP), which is caused by a postzygotic somatic activating mutation in the GNAS gene encoding the alpha subunit of Gs protein. In our case study, we recorded a girl with the onset of MAS and treated her with Chinese medicinal herbs combined with megestrol acetate. We aim to provide a method for the treatment of children with this rare form of precocious puberty. Case Presention: A 4-year-old girl presented with vaginal bleeding and enlarged breasts. The activating mutation of GNAS was not detected in the patient’s peripheral blood samples, as some had reported. Because of peripheral PP and fibrous dysplasia of the diagnosed bone, the patient was considered as MAS. We chose the Chinese medicinal herbs combined with megestrol acetate for treatment, and the patient was effectively treated. Conclusion: The combination therapy of Chinese medicinal herbs plus megestrol acetate in managing PP in an MAS is one of the useful treatments.

scholarly journals Primate Genome Gain and Loss: A Bone Dysplasia, Muscular Dystrophy, and Bone Cancer Syndrome Resulting from Mutated Retroviral-Derived MTAP Transcripts

2012 ◽  
Vol 90 (4) ◽  
pp. 614-627 ◽  
Author(s):  
Olga Camacho-Vanegas ◽  
Sandra Catalina Camacho ◽  
Jacob Till ◽  
Irene Miranda-Lorenzo ◽  
Esteban Terzo ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Bone Cancer ◽  
Bone Dysplasia ◽  
Cancer Syndrome ◽  
Primate Genome ◽  
Gain And Loss

MR imaging of deferoxamine-induced bone dysplasia in an 8-year-old female with thalassemia major

1993 ◽  
Vol 23 (7) ◽  
pp. 523-524 ◽  
Author(s):  
T. T. Miller ◽  
G. Caldwell ◽  
J. J. Kaye ◽  
S. Arkin ◽  
S. Burke ◽  
...  
Keyword(s):  
Mr Imaging ◽  
Bone Dysplasia ◽  
Thalassemia Major
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