A rare case of monozygotic iniodymic diprosopiasis in a German Holstein calf

2017 ◽  
Vol 45 (05) ◽  
pp. 296-301
Author(s):  
Holger Behn ◽  
Markus Freick ◽  
Jim Weber
Keyword(s):  
Sonic Hedgehog ◽  
Rare Case ◽  
Monozygotic Twins ◽  
Signaling Molecule ◽  
Tissue Samples ◽  
Rare Phenomenon ◽  
Bovine Species ◽  
Craniofacial Morphogenesis

SummaryCraniofacial duplication abnormity is a rare phenomenon in buiatric practice. This report attends to a male German Holstein calf which could be classified as a diprosopic iniodymus. A fetus exhibiting a doubled face was delivered after fetotomy. To our knowledge, this is the first description of diprosopiasis with two cranial cavities as well as two separate encephala in a calf showing the potential extent of duplication. Throughout this work also the question is answered of whether this malformation in a bovine species arose from one embryo or rather, there is a dizygotic background by genotyping of tissue samples from both parts of the diprosopus. Regarding etiology, not only hereditary dispositions including among others a failed function of the signaling molecule Sonic hedgehog mediating regulation of craniofacial morphogenesis, but also incompletely separated monozygotic twins are discussed.

scholarly journals Atypical anti-glomerular basement membrane disease with anti-GBM antibody negativity and ANCA positivity: a case report

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Na Guo ◽  
Qinghua Yin ◽  
Song Lei ◽  
Yanjun He ◽  
Ping Fu
Keyword(s):  
Basement Membrane ◽  
Glomerular Basement Membrane ◽  
Rare Case ◽  
Test Results ◽  
Serum Samples ◽  
Tissue Samples ◽  
Case Presentation ◽  
Severe Renal Insufficiency ◽  
Laboratory Test Results ◽  
Organ Specific

Abstract Background Anti-glomerular basement membrane (anti-GBM) disease is an organ-specific autoimmune disease that involves the lung and kidneys and leads to rapid glomerulonephritis progression, with or without diffuse alveolar hemorrhage, and even respiratory failure. Classic cases of anti-GBM disease are diagnosed based on the presence of the anti-GBM antibody in serum samples and kidney or lung biopsy tissue samples. However, atypical cases of anti-GBM disease are also seen in clinical practice. Case presentation We herein report the rare case of a patient with atypical anti-GBM disease whose serum was negative for the anti-GBM antibody but positive for the myeloperoxidase (MPO) anti-neutrophil cytoplasmic antibody (p-ANCA) and another atypical ANCA. Laboratory test results showed severe renal insufficiency with a creatinine level of 385 μmol/L. Renal biopsy specimen analysis revealed 100% glomeruli with crescents; immunofluorescence showed immunoglobulin G (IgG) linearly deposited alongside the GBM. Finally, the patient was discharged successfully after treatment with plasmapheresis, methylprednisolone and prednisone. Conclusion This patient, whose serum was negative for the anti-GBM antibody but positive for p-ANCA and another atypical ANCA, had a rare case of anti-GBM disease. Insights from this unusual case might help physicians diagnose rare forms of glomerulonephritis and treat affected patients in a timely manner.

scholarly journals Cortical Neural Stem Cell Lineage Progression Is Regulated by Extrinsic Signaling Molecule Sonic Hedgehog

Cell Reports ◽  
2020 ◽  
Vol 30 (13) ◽  
pp. 4490-4504.e4 ◽  
Author(s):  
Yue Zhang ◽  
Guoping Liu ◽  
Teng Guo ◽  
Xiaoyi G. Liang ◽  
Heng Du ◽  
...  
Keyword(s):  
Stem Cell ◽  
Neural Stem Cell ◽  
Sonic Hedgehog ◽  
Cell Lineage ◽  
Signaling Molecule ◽  
Stem Cell Lineage

scholarly journals A rare case of Schneiderian papilloma of the middle ear presenting with pulsatile tinnitus

2018 ◽  
Vol 100 (5) ◽  
pp. e109-e111 ◽  
Author(s):  
SM Mummadi ◽  
A Darr ◽  
N Hakim ◽  
S Din ◽  
SK Bhimrao
Keyword(s):  
Middle Ear ◽  
Rare Case ◽  
Disease Recurrence ◽  
High Rate ◽  
Glomus Tumour ◽  
Pulsatile Tinnitus ◽  
Tissue Samples ◽  
Modified Radical Mastoidectomy ◽  
Associated Malignancy ◽  
One Year

Schneiderian papillomas (ISP) of the middle ear are uncommon conditions, with only 45 cases published within literature. They are locally aggressive tumours, with a high rate of recurrence and associated malignancy. We present a rare case of a 53-year-old man presenting with unilateral pulsatile tinnitus, otorrhoea, aural fullness, pruritis and hearing loss. Angiography was employed to exclude a glomus tumour and the patient underwent a modified radical mastoidectomy. Tissue samples confirmed a histological diagnosis of ISP of the middle ear. Follow-up magnetic resonanc imaging one year postoperatively showed no evidence of disease recurrence.

scholarly journals Malignant transformation of kissing nevus- a rare entity

2012 ◽  
Vol 4 (2) ◽  
pp. 329-332 ◽  
Author(s):  
R Sitaula Kharel ◽  
S Bhatta ◽  
G B Shrestha ◽  
J K Shrestha
Keyword(s):  
Malignant Transformation ◽  
Rare Case ◽  
Slow Growth ◽  
Rare Entity ◽  
Tissue Samples ◽  
Congenital Nevus ◽  
Pigmented Lesion ◽  
Nodular Lesions ◽  
Upper Lid ◽  
Slow Growth Phase

Background: Kissing nevus is a congenital nevus in adjacent parts of the eyelids. Malignant transformation of kissing or divided nevi of the eyelids is rarely described. Objective: To report a very rare case of malignant transformation of kissing nevus with ocular and extraocular spread. Case: A 57- year- old man with 6/6 visual acuity in both eyes presented with a kissing nevus present since birth in right upper and lower eyelids which had a slow growth phase. The upper lid in the area of the nevus was thickened with a 20x12x15 mm black pigmented crusted hemorrhagic nodular lesions. The lower lid had a 6 mm black pigmented ulcerated lesion over the pre-existing nevus in the lateral third of the lid with full thickness infiltration. Another 5x4 mm pigmented lesion over the lower medial lid margin with a thickness of about 3 mm extended to the conjunctival side of the lower lid. Right sided pre-auricular and submaxillary nodes were palpable. A biopsy of tissue samples from the eyelid and pre-auricular nodes were consistent with malignant melanoma.Conclusion: Malignant transformation of kissing nevus is rare. It can spread to the conjunctiva, pre-auricular and sub-mandibular lymphnodes.DOI: http://dx.doi.org/10.3126/nepjoph.v4i2.6555 Nepal J Ophthalmol 2012; 4 (2): 329-332  

scholarly journals A rare phenomenon of atypical lipodystrophy in a patient on HAART in the absence of a protease inhibitor regimen

2010 ◽  
Vol 11 (2) ◽  
Author(s):  
Mohammed Mitha ◽  
Gordon Cupido ◽  
Jantjie Taljaard
Keyword(s):  
Protease Inhibitor ◽  
Rare Case ◽  
Term Treatment ◽  
Protease Inhibitor Regimen ◽  
Rare Phenomenon ◽  
Long Term Treatment ◽  
Inhibitor Regimen

Lipodystrophy is a complication of patients on antiretroviral (ARV) medication; however, it is commonest in patients on long-term treatment and those on protease inhibitor (PI) regimens.1,2 We present a rare case of atypical lipodystrophy, presenting as multiple subcutaneous lipomas, in a patient who had been on a non-PI ART regimen for 6 weeks.

scholarly journals A Case Report of a Cecal Bascule with Internal Herniation through the Foramen of Winslow

2021 ◽  
Author(s):  
Eric Mulkey ◽  
Gregory Stewart ◽  
Ernesto Enrique ◽  
Rafik El-Sabrout
Keyword(s):  
Case Report ◽  
Rare Case ◽  
Internal Herniation ◽  
Foramen Of Winslow ◽  
Internal Hernias ◽  
Abdominal Symptoms ◽  
Rare Phenomenon

Internal hernias are a rare phenomenon, and even rarer is a herniation through the foramen of Winslow. We report a rare case of an 81 year old female presenting with vague abdominal symptoms who was found to have a cecal bascule herniating through the foramen of Winslow treated with surgery.

Rare case of bilateral petrous apex cephalocele

2021 ◽  
Vol 14 (4) ◽  
pp. e242328
Author(s):  
Aastha Pruthi ◽  
Garjesh Rai ◽  
Ketan Mehra
Keyword(s):  
Temporal Bone ◽  
Rare Case ◽  
Cystic Lesion ◽  
Petrous Apex ◽  
Anatomical Location ◽  
Meckel’S Cave ◽  
Rare Phenomenon ◽  
Meckel's Cave ◽  
Incidental Lesions

The petrous apex is a pyramidal-shaped structure which is difficult to examine due to difficult anatomical location. Lesions in the petrous apex can be managed surgically or they can be incidental lesions, which are managed conservatively. Petrous apex cephaloceles (PAC) are the cystic lesion due to herniation in the Meckel’s cave of temporal bone. Bilateral PAC is a very rare phenomenon with only 21 cases reported in the literature so far. We present here a case of bilateral PAC, who presented with headache and was managed conservatively.

The role of sonic hedgehog in normal and abnormal craniofacial morphogenesis

Development ◽  
1999 ◽  
Vol 126 (21) ◽  
pp. 4873-4884 ◽  
Author(s):  
D. Hu ◽  
J.A. Helms
Keyword(s):  
Sonic Hedgehog ◽  
Cleft Lip ◽  
Craniofacial Development ◽  
Shh Signaling ◽  
Cleft Lip Palate ◽  
Transient Loss ◽  
Upper Face ◽  
Craniofacial Complex ◽  
Craniofacial Morphogenesis

There is growing evidence that implicates a role for Sonic hedgehog (SHH) in morphogenesis of the craniofacial complex. Mutations in human and murine SHH cause midline patterning defects that are manifested in the head as holoprosencephaly and cyclopia. In addition, teratogens such as jervine, which inhibit the response of tissues to SHH, also produce cyclopia. Thus, the loss of SHH signaling during early stages of neural plate patterning has a profound influence of craniofacial morphogenesis. However, the severity of these defects precludes analyses of SHH function during later stages of craniofacial development. We have used an embryonic chick system to study the role of SHH during these later stages of craniofacial development. Using a combination of surgical and molecular experiments, we show here that SHH is essential for morphogenesis of the frontonasal and maxillary processes (FNP and MXPs), which give rise to the mid- and upper face. Transient loss of SHH signaling in the embryonic face inhibits growth of the primordia and results in defects analogous to hypotelorism and cleft lip/palate, characteristics of the mild forms of holoprosencephaly. In contrast, excess SHH leads to a mediolateral widening of the FNP and a widening between the eyes, a condition known as hypertelorism. In severe cases, this widening is accompanied by facial duplications. Collectively, these experiments demonstrate that SHH has multiple and profound effects on the entire spectrum of craniofacial development, and perturbations in SHH signaling are likely to underlie a number of human craniofacial anomalies.

scholarly journals Primary intra osseous venous malformation of nasal bone: A rare case report

2014 ◽  
Vol 47 (03) ◽  
pp. 423-426 ◽  
Author(s):  
Ajit Kumar Pati ◽  
Bibhuti Bhusan Nayak ◽  
Arun Kumar Choudhury ◽  
Debesh Kumar Rout
Keyword(s):  
Case Report ◽  
Rare Case ◽  
Venous Malformation ◽  
Nasal Bone ◽  
Port Wine Stain ◽  
Port Wine ◽  
Review Of Literature ◽  
Rare Phenomenon ◽  
Rare Case Report ◽  
Back Ground

ABSTRACTPrimary intra osseous venous malformation with involvement of nasal bone is a rare phenomenon. Nasal bone intraosseous venous malformation on a back ground of port wine stain of face has not been reported in the available literature. We report the very rare case of intraosseous venous malformation of left nasal bone developing on a background of port wine stain of face, its diagnosis, pathology, management and review of literature.

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