scholarly journals A case report of achondrogenesis type II (Langer-Saldino achondrogenesis)

2021 ◽  
Vol 52 (1) ◽  
Author(s):  
Saurabh Maheshwari ◽  
Dilip Ingole ◽  
Samar Chatterjee ◽  
Uddandam Rajesh ◽  
Varun Anand
Keyword(s):  
Case Report ◽  
Autosomal Dominant ◽  
Antenatal Diagnosis ◽  
Type Ii Collagen ◽  
Type I ◽  
Type Ii ◽  
Rare Entity ◽  
Case Presentation ◽  
Structural Mutations ◽  
Achondrogenesis Type

Abstract Background Achondrogenesis type II is a rare autosomal dominant skeletal dysplasia with a frequency of ~0.2 per 100,000 births. It is one of the lethal short-limbed dwarfisms associated with structural mutations in type II collagen and is also known as Langer-Saldino achondrogenesis. It is characterized by severe micromelia (shortening of entire limb), narrow chest, and prominent abdomen. It shares the striking feature of partial or complete vertebral body demineralization with achondrogenesis type I. Case presentation We present a case with antenatal diagnosis of this rare entity which was confirmed by post-termination radiographs of abortus. Conclusion The imaging plays a cardinal role in the diagnosis of this condition. This case represents only the 4th case of this rare entity from India.

scholarly journals Substitution of aspartic acid for glycine at position 310 in type II collagen produces achondrogenesis II, and substitution of serine at position 805 produces hypochondrogenesis: analysis of genotype-phenotype relationships

1995 ◽  
Vol 307 (3) ◽  
pp. 823-830 ◽  
Author(s):  
J Bonaventure ◽  
L Cohen-Solal ◽  
P Ritvaniemi ◽  
L Van Maldergem ◽  
N Kadhom ◽  
...  
Keyword(s):  
Type I Collagen ◽  
Denaturing Gradient Gel Electrophoresis ◽  
Type Ii Collagen ◽  
Terminal Region ◽  
Collagen Molecule ◽  
Type I ◽  
Type Ii ◽  
Single Base ◽  
Glycine Substitution ◽  
Achondrogenesis Type

Two different mutations were found in two unrelated probands with lethal chondrodysplasias, one with achondrogenesis type II and the other with the less severe phenotype of hypochondrogenesis. The mutations in the COL2A1 gene were identified by denaturing gradient gel electrophoresis analysis of genomic DNA followed by dideoxynucleotide sequencing and restriction site analysis. The proband with achondrogenesis type II had a heterozygous single-base mutation that substituted aspartate for glycine at position 310 of the alpha 1(II) chain of type II procollagen. The proband with hypochondrogenesis had a heterozygous single-base mutation that substituted serine for glycine at position 805. Type II collagen extracted from cartilage from the probands demonstrated the presence of type I collagen and a delayed electrophoretic mobility, indicating post-translational overmodifications. Analysis of CNBr peptides showed that, in proband 1, the entire peptides were overmodified. Examination of chondrocytes cultured in agarose or alginate indicated that there was a delayed secretion of type II procollagen. In addition, type II collagen synthesized by cartilage fragments from the probands demonstrated a decreased thermal stability. The melting temperature of the type II collagen containing the aspartate-for-glycine substitution was reduced by 4 degrees C, and that of the collagen containing the serine-for-glycine substitution was reduced by 2 degrees C. Electron microscopy of the extracellular matrix from the chondrocyte cultures showed a decreased density of matrix and the presence of unusually short and thin fibrils. Our results indicate that glycine substitutions in the N-terminal region of the type II collagen molecule can produce more severe phenotypes than mutations in the C-terminal region. The aspartate-for-glycine substitution at position 310, which was associated with defective secretion and a probable increased degradation of collagen, is the most destabilizing mutation yet reported in type II procollagen.

scholarly journals ACOL2A1Mutation in Achondrogenesis Type II Results in the Replacement of Type II Collagen by Type I and III Collagens in Cartilage

1995 ◽  
Vol 270 (4) ◽  
pp. 1747-1753 ◽  
Author(s):  
Danny Chan ◽  
William G. Cole ◽  
C. W. Chow ◽  
Stefan Mundlos ◽  
John F. Bateman
Keyword(s):  
Type Ii Collagen ◽  
Type I ◽  
Type Ii ◽  
Achondrogenesis Type

scholarly journals Bilateral scrotoshisis a rare entity: case report

2021 ◽  
Vol 17 (1) ◽  
Author(s):  
Shazia Perveen ◽  
Mishraz Shaikh ◽  
Sajid Ali
Keyword(s):  
Case Report ◽  
Rare Entity ◽  
Case Presentation ◽  
Rare Anomaly ◽  
Normal Term ◽  
Twin Delivery

Abstract Background Scrotoschisis is a rare anomaly in which the testis is lying outside scrotum congenitally. Only few cases have been reported in literature under different names most of which are unilateral. We have found only one case of bilateral scrotoschisis in literature. Case presentation Newborn presented to us after normal term twin delivery as a case of bilateral scrotoschisis in which both testes were lying outside the scrotum congenitally. Baby underwent uneventful bilateral orchiopexy and was discharged home the next day. Conclusion Scrotoschisis is a very rare genital anomaly with only a few cases reported in literature. This report would add to the literature which would help in studying the exact mechanism and embryopathogenesis of this anomaly which is not known yet.

Type VI collagen expression is upregulated in the early events of chondrocyte differentiation

Development ◽  
1993 ◽  
Vol 117 (1) ◽  
pp. 245-251
Author(s):  
R. Quarto ◽  
B. Dozin ◽  
P. Bonaldo ◽  
R. Cancedda ◽  
A. Colombatti
Keyword(s):  
Suspension Culture ◽  
Type I Collagen ◽  
Type Ii Collagen ◽  
Type I ◽  
Type Ii ◽  
Type Vi Collagen ◽  
Full Spectrum ◽  
Collagen Expression ◽  
Hypertrophic Chondrocyte

Dedifferentiated chondrocytes cultured adherent to the substratum proliferate and synthesize large amounts of type I collagen but when transferred to suspension culture they decrease proliferation, resume the chondrogenic phenotype and the synthesis of type II collagen, and continue their maturation to hypertrophic chondrocyte (Castagnola et al., 1986, J. Cell Biol. 102, 2310–2317). In this report, we describe the developmentally regulated expression of type VI collagen in vitro in differentiating avian chondrocytes. Type VI collagen mRNA is barely detectable in dedifferentiated chondrocytes as long as the attachment to the substratum is maintained, but increases very rapidly upon passage of the cells into suspension culture reaching a peak after 48 hours and declining after 5–6 days of suspension culture. The first evidence of a rise in the mRNA steady-state levels is obtained already at 6 hours for the alpha 3(VI) chain. Immunoprecipitation of metabolically labeled cells with type VI collagen antibodies reveals that the early mRNA rise is paralleled by an increased secretion of type VI collagen in cell media. Induction of type VI collagen is not the consequence of trypsin treatment of dedifferentiated cells since exposure to the actin-disrupting drug cytochalasin or detachment of the cells by mechanical procedures has similar effects. In 13-day-old chicken embryo tibiae, where the full spectrum of the chondrogenic differentiation process is represented, expression of type VI collagen is restricted to the articular cartilage where chondrocytes developmental stage is comparable to stage I (high levels of type II collagen expression).(ABSTRACT TRUNCATED AT 250 WORDS)

Cardiac and Respiratory Arrest in a 12-Year-Old Girl with Acute Permethrin Toxicity: A Case Report

2021 ◽  
Author(s):  
Hesam Adin Atashi ◽  
Hamid Zaferani Arani ◽  
Seyyed Mojtaba Ghorani ◽  
Mahya Sadat Teimouri Khorasani ◽  
Masoumeh Moalem
Keyword(s):  
Case Report ◽  
Brain Damage ◽  
Respiratory Arrest ◽  
Spontaneous Circulation ◽  
Type I ◽  
Medical Problems ◽  
Present Case Report ◽  
Case Presentation ◽  
Hypoxic Brain Damage ◽  
Hypoxic Brain

Abstract Background: Permethrin (PER) is widely employed as the most frequently used type I synthetic pyrethroid insecticide. Despite its worldwide application, reports of pediatric toxicity following permethrin administration are scarce.Case presentation: The present case report involves a 12-year-old Afghan girl, with no previous medical problems, who drank an unknown insecticide covertly at home. Two hours after ingestion, she was taken to the emergency room with neither breathing signs nor a heartbeat. She was immediately transferred to the cardiopulmonary resuscitation (CPR) room, and her spontaneous circulation was returned after a few minutes of CPR. She was then intubated, volume resuscitated with intravenous normal saline, and connected to the mechanical ventilator after being transferred to the ICU ward. The patient remained comatose without spontaneous breathing, her pupils became bilateral mydriasis, and central diabetes insipidus became evident after three days due to apnea and hypoxic brain damage following insecticide ingestion. The chemical analysis of the insecticide bottle showed 10% permethrin without organophosphates, as initially expected. Unfortunately, after seven days, the patient passed away due to resistant hypotension and severe brain damage.Conclusion: Permethrin is widely used globally as an insecticide. However, there are many unmet needs in permethrin toxicity treatment, and the treatment is mainly supportive. Depending on the amount and dose of permethrin, the most common symptoms can vary from headache, dyspnea, and vomiting to metabolic acidosis and cardiac and respiratory arrest, which can lead to hypoxic brain damage and death, as was the outcome in our case.

scholarly journals Abernethy Malformation Type II and Concurrent Nodular Hyperplasia in a Rare Female Case

2018 ◽  
Vol 2018 ◽  
pp. 1-4
Author(s):  
Zhen Kang ◽  
Xiangde Min ◽  
Liang Wang
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Type I ◽  
Type Ii ◽  
Malignant Tumours ◽  
Abernethy Malformation ◽  
Vascular Abnormality ◽  
Female Case ◽  
Nodular Hyperplasia ◽  
The Right

Background. Abernethy malformation is a rare splanchnic vascular abnormality characterizing extrahepatic abnormal shunts that is classified into types I and II. Abernethy malformation type I has a female predilection and is associated with a variety of concurrent hepatic benign or malignant tumours while type II with concurrent tumours is very rare in females. Case Report. We report a rare female case of Abernethy malformation type II with concurrent occupying lesion in the right liver, which was successfully transplanted; the occupying lesion was pathologically proven to be nodular hyperplasia. Conclusion. This case might provide further knowledge regarding Abernethy malformation. On imaging, the anatomy of portal vein should be carefully investigated to categorize Abernethy malformation, and a wide variety of differential diagnosis of concurrent occupying lesions should be taken into account.

scholarly journals TGF-  type I receptor kinase inhibitor down-regulates rheumatoid synoviocytes and prevents the arthritis induced by type II collagen antibody

2006 ◽  
Vol 19 (2) ◽  
pp. 117-126 ◽  
Author(s):  
M. Sakuma ◽  
K. Hatsushika ◽  
K. Koyama ◽  
R. Katoh ◽  
T. Ando ◽  
...  
Keyword(s):  
Kinase Inhibitor ◽  
Type Ii Collagen ◽  
Type I ◽  
Type Ii ◽  
Receptor Kinase

scholarly journals Autoimmunity to type II collagen an experimental model of arthritis.

1977 ◽  
Vol 146 (3) ◽  
pp. 857-868 ◽  
Author(s):  
D E Trentham ◽  
A S Townes ◽  
A H Kang
Keyword(s):  
Type Ii Collagen ◽  
Intradermal Injection ◽  
Type I ◽  
Type Ii ◽  
Incomplete Freund’S Adjuvant ◽  
Freund’S Adjuvant ◽  
Freund's Adjuvant ◽  
Cartilage Proteoglycans ◽  
Bacterial Preparations ◽  
Helical Region

We have found that intradermal injection of native type II collagen extracted from human, chick or rat cartilage induces an inflammatory arthritis in approximately 40% of rats of several strains whether complete Freund's adjuvant or incomplete Freund's adjuvant is used. Type I or III collagen extracted from skin, cartilage proteoglycans and alpha1(II) chains were incapable of eliciting arthritis, as was type II collagen injected without adjuvant. The disease is a chronic proliferative synovitis, resembling adjuvant arthritis in rats and rheumatoid arthritis in humans. Native type II co-lagen modified by limited pepsin digestion still produces arthritis, suggesting that type-specific determinants residing in the helical region of the molecule are responsible for the induction of disease. Since homologous type II collagen emulsified in oil without bacterial preparations regularly causes the disease, this new animal model of arthritis represents a unique example of experimentally-inducible autoimmunity to a tissue component.

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