scholarly journals ATP2A2 SINE Insertion in an Irish Terrier with Darier Disease and Associated Infundibular Cyst Formation

Genes ◽  
2020 ◽  
Vol 11 (5) ◽  
pp. 481 ◽  
Author(s):  
Monika Linek ◽  
Maren Doelle ◽  
Tosso Leeb ◽  
Anina Bauer ◽  
Fabienne Leuthard ◽  
...  
Keyword(s):  
Allelic Imbalance ◽  
Cyst Formation ◽  
Presumptive Diagnosis ◽  
Nonsense Mediated Decay ◽  
Darier Disease ◽  
Atp2a2 Gene ◽  
Sine Insertion ◽  
The Right ◽  
Excised Tissue ◽  
Suprabasal Keratinocytes

A 4-month-old female Irish Terrier presented with a well demarcated ulcerative and crusting lesion in the right ear canal. Histological analysis revealed epidermal hyperplasia with severe acantholysis affecting all suprabasal layers of the epidermis, which prompted a presumptive diagnosis of canine Darier disease. The lesion was successfully treated by repeated laser ablation of the affected epidermis. Over the course of three years, the dog additionally developed three dermal nodules of up to 4 cm in diameter that were excised and healed without complications. Histology of the excised tissue revealed multiple infundibular cysts extending from the upper dermis to the subcutis. The cysts were lined by squamous epithelium, which presented with abundant acantholysis of suprabasal keratinocytes. Infundibular cysts represent a novel finding not previously reported in Darier patients. Whole genome sequencing of the affected dog was performed, and the functional candidate genes for Darier disease (ATP2A2) and Hailey-Hailey disease (ATP2C1) were investigated. The analysis revealed a heterozygous SINE insertion into the ATP2A2 gene, at the end of intron 14, close to the boundary of exon 15. Analysis of the ATP2A2 mRNA from skin of the affected dog demonstrated a splicing defect and marked allelic imbalance, suggesting nonsense-mediated decay of the resulting aberrant transcripts. As Darier disease in humans is caused by haploinsufficiency of ATP2A2, our genetic findings are in agreement with the clinical and histopathological data and support the diagnosis of canine Darier disease.

scholarly journals Chronic Endophthalmitis Caused by Pseudomonas stutzeri

2020 ◽  
Vol 11 (3) ◽  
pp. 595-599
Author(s):  
Saeed T. Alshahrani ◽  
J. Fernando Arevalo
Keyword(s):  
Pseudomonas Stutzeri ◽  
Posterior Chamber ◽  
Topical Steroids ◽  
Sensitivity Testing ◽  
Corneal Incision ◽  
Presumptive Diagnosis ◽  
Lens Extraction ◽  
History Of ◽  
Sudden Decrease ◽  
The Right

A patient presented with complaints of a sudden decrease in vision, ocular redness, and pain in the right eye. The patient had a history of clear lens extraction with intraocular lens (IOL) implantation for myopia 2 years previously. He had been prescribed topical steroids for episodes of inflammation that occurred repeatedly every 1–2 months. With a presumptive diagnosis of chronic endophthalmitis, a 23-G transconjunctival sutureless pars plana vitrectomy (PPV) with delivery of intravitreal antibiotics was performed the next day. Culture sensitivity testing of the vitreous sample indicated <i>Pseudomonas stutzeri</i> that was sensitive to ceftazidime and gentamicin. Two weeks later, the patient presented with sudden loss of vision and all the signs of recurrent endophthalmitis. 23-G transconjunctival sutureless PPV was performed along with removal of the posterior chamber IOL through a corneal incision. Complete resolution was only achieved after removal of the IOL, resulting in excellent visual recovery. Due to its chronic and fulminating nature, <i>P. stutzeri</i> can induce endophthalmitis and should be considered in the differential diagnosis. Aseptic measures are the best prevention.

Sporadic case of Darier disease caused by a novel splice-site mutation in the ATP2A2 gene

2018 ◽  
Vol 44 (2) ◽  
pp. e10-e12
Author(s):  
S. Yasuno ◽  
Y. Miyoshi ◽  
N. Asano ◽  
T. Okita ◽  
M. Yamaguchi ◽  
...  
Keyword(s):  
Splice Site ◽  
Splice Site Mutation ◽  
Sporadic Case ◽  
Site Mutation ◽  
Darier Disease ◽  
Atp2a2 Gene

scholarly journals A rare cause of biliary obstruction – intraductal neuroendocrine tumor of the right hepatic biliary duct: a case report

2020 ◽  
Author(s):  
Mirela Danila ◽  
Roxana Sirli ◽  
Alina Popescu ◽  
Nicoleta Iacob ◽  
Ana-Maria Ghiuchici
Keyword(s):  
Neuroendocrine Tumors ◽  
Biliary Obstruction ◽  
Ultrasound Examination ◽  
Hepatic Duct ◽  
Biliary Duct ◽  
Presumptive Diagnosis ◽  
Additional Imaging ◽  
Biliary Ducts ◽  
Well Differentiated ◽  
The Right

Primary biliary tract neuroendocrine tumors (NETs) are extremely rare tumors that account for 0.2-2% of all gastrointestinal neuroendocrine tumors. The typical presentation is with jaundice and other symptoms related to biliary obstruction.We present a case of right hepatic duct NET in a 27-year-old female patient, asymptomatic, presented for a routine ultrasound examination that revealed moderate dilatation of the intrahepatic biliary ducts and a 20 mm hyperechoic lesion in the right hepatic biliary duct. Additional imaging was performed with the presumptive diagnosis of cholangiocarcinoma. After surgery, the histopathological and immunohistochemical report was conclusive for the diagnosis of G2 well-differentiated NET

scholarly journals Apicotomy as Treatment for Failure of Orthodontic Traction

2013 ◽  
Vol 2013 ◽  
pp. 1-5 ◽  
Author(s):  
Leandro Berni Osório ◽  
Vilmar Antonio Ferrazzo ◽  
Geraldo Serpa ◽  
Kívia Linhares Ferrazzo
Keyword(s):  
Case Report ◽  
Maxillary Sinus ◽  
Dentigerous Cyst ◽  
Dental Arch ◽  
Effective Technique ◽  
Presumptive Diagnosis ◽  
Tooth Position ◽  
Sinus Infection ◽  
Vitality Test ◽  
The Right

Objective.The purpose of this study was to present a case report that demonstrated primary failure in a tooth traction that was subsequently treated with apicotomy technique.Case Report.A 10-year-old girl had an impacted upper right canine with increased pericoronal space, which was apparent on a radiographic image. The right maxillary sinus showed an opacity suggesting sinusitis. The presumptive diagnosis was dentigerous cyst associated with maxillary sinus infection. The plan for treatment included treatment of the sinus infection and cystic lesion and orthodontic traction of the canine after surgical exposure and bonding of an orthodontic appliance. The surgical procedure, canine position, root dilaceration, and probably apical ankylosis acted in the primary failure of the orthodontic traction. Surgical apical cut of the displaced teeth was performed, and tooth position in the dental arch was possible, with a positive response to the pulp vitality test.Conclusion.Apicotomy is an effective technique to treat severe canine displacement and primary orthodontic traction failure of palatally displaced canines.

scholarly journals Novel Point Mutations of the ATP2A2 Gene in Two Chinese Families with Darier Disease

2001 ◽  
Vol 116 (3) ◽  
pp. 482-483 ◽  
Author(s):  
Yong Yang ◽  
Guanqun Li ◽  
Dingfang Bu ◽  
Xuejun Zhu
Keyword(s):  
Point Mutations ◽  
Chinese Families ◽  
Darier Disease ◽  
Atp2a2 Gene

Tuberculous Parotitis: Case Report and Literature Review

2005 ◽  
Vol 114 (7) ◽  
pp. 547-551 ◽  
Author(s):  
Ing-Kit Lee ◽  
Jien-Wei Liu
Keyword(s):  
Needle Aspiration ◽  
Cervical Lymphadenitis ◽  
Presumptive Diagnosis ◽  
Duration Of Symptoms ◽  
Fine Needle ◽  
Cytologic Analysis ◽  
Unilateral Involvement ◽  
Histopathologic Analysis ◽  
High Index Of Suspicion ◽  
Excised Tissue

Objectives: Our aim was to better understand the rarely encountered tuberculous (TB) parotitis. Methods: A case of TB parotitis is reported, and the literature is reviewed. Results: Forty-nine patients (27 men, 22 women; mean age, 38.3 ± 16.4 years) were enrolled. The median duration of symptoms before these patients sought medical help was 6 months. Except for 1 patient with bilateral TB parotitis, all had unilateral involvement; complications included draining sinuses in 4 patients (8%) and facial palsy in 2 patients (4%). Twenty-one of 36 patients (58%) had a painless parotid mass, 12 of 19 (63%) had cervical lymphadenitis, 8 of 11 (73%) had fever, and 11 of 44 (25%) had pulmonary tuberculosis (4 active and 7 inactive cases). Neoplasm was the most common presumptive diagnosis. The diagnosis of TB parotitis in most cases was made on the basis of cytologic analysis of the fine-needle aspirate or histopathologic analysis of the excised tissue. Forty-six patients with TB parotitis who had a traceable outcome survived after 6 to 10 months of antituberculosis chemotherapy. Conclusions: Physicians should have a high index of suspicion for TB parotitis in patients with a chronic parotid lump, even if the chest radiographs appear normal. Fine-needle aspiration should be performed first for diagnosis, and TB parotitis should be medically treated.

scholarly journals Hypertrophic osteopathy and bone metastases in a dog with prostatic carcinoma

2020 ◽  
Vol 50 (8) ◽  
Author(s):  
Andréia Vielmo ◽  
Ronaldo Michel Bianchi ◽  
Letícia Franciele Gomes Kinappe ◽  
Cristiano Gomes ◽  
Saulo Petinatti Pavarini
Keyword(s):  
Bone Metastases ◽  
Prostatic Carcinoma ◽  
Prostate Gland ◽  
Periosteal Reaction ◽  
Radiographic Examination ◽  
Appendicular Skeleton ◽  
Presumptive Diagnosis ◽  
History Of ◽  
Satisfactory Clinical Response ◽  
The Right

ABSTRACT: Prostatic carcinomas in are aggressive neoplasms and bone metastases may occur; however, hypertrophic osteopathy associated with that condition is poorly documented. A ten-year-old, neutered male, mixed breed dog had a history of lameness and volume increase in the left pelvic limb. On radiographic examination, a lytic bone mass was observed in the left metatarsus, as well as a diffuse proliferative periosteal reaction in several bones of the appendicular skeleton, in addition to radiopaque nodular structures in all lung lobes. A presumptive diagnosis of primary bone neoplasia with pulmonary metastases and hypertrophic osteopathy was established and chemotherapy treatment was started. However, there was no satisfactory clinical response, and euthanasia was ellected. At necropsy, there was moderate enlargement of the prostate gland. The gland was firm and whitish, with a multilobulated aspect. Several similar masses were observed in the right kidney, lungs, mediastinal lymph nodes, and multiple bones of the appendicular skeleton. These bones also presented evident diffuse periosteal reaction. Histological examination revealed a metastatic prostatic carcinoma with bone involvement and hypertrophic osteopathy. This report is an unusual case of metastatic prostatic carcinoma in association with hypertrophic osteopathy and concomitant bone metastases.

scholarly journals Small intestinal herniation through the broad ligament in a mare outside of the gestation period – a case report

2018 ◽  
Vol 87 (4) ◽  
pp. 331-337
Author(s):  
Cristian Crecan ◽  
Iancu Morar ◽  
Mircea V. Mircean ◽  
Daniela Oros ◽  
Alexandra Muresan ◽  
...  
Keyword(s):  
Post Partum ◽  
Abdominal Cavity ◽  
Broad Ligament ◽  
Abdominal Ultrasound ◽  
Uterine Horn ◽  
Presumptive Diagnosis ◽  
Ultrasound Evaluation ◽  
Persistent Abdominal Pain ◽  
One Year ◽  
The Right

A Furioso-North Star mare, aged 8 years, was examined for colic signs. The mare had a history of dystocia and post partum vaginal lacerations, acute endometritis and laminitis approximately one year before the admission for colic. Signs of persistent abdominal pain, moderate distended abdomen, non-passage of manure, fever, tachycardia, tachypnoea, congested mucus membranes, and “toxic line” were recorded. No intestinal borborygmi were present in the four quarters of the abdomen. On rectal examination, the colon, the ventral band of the caecum, the right ovary and the uterine horn were palpated on the right side of the abdomen. The spleen, the nephrosplenic ligament, the left ovary and a firm, distended and painful small intestine (SI) loop were palpated on the left side. The left uterine horn and the adjacent broad ligament were not detectable. Percutaneous abdominal ultrasound evaluation revealed a large amount of fluid in the abdominal cavity, SI distention and absence of peristalsis. Abdominocentesis yielded approximately 20 ml of red-tinged peritoneal fluid with increased mean protein concentration (5.2 mg/dl), white blood cell count (12,550 cells/μl), and lactate (14 mmol/dl). A presumptive diagnosis of SI strangulation was made. Surgical resection of the affected intestinal loops was recommended. Due to poor prognosis and financial limitations, the mare was euthanized. Post mortem macroscopic diagnosis was a herniation of 3 metres of the mid-jejunum through the left mesometrium, resulting in a complete and complicated strangulation. To prevent this type of SI strangulation, we recommend transrectal palpation of the urogenital tract (including the broad ligament) after foaling. If a defect is identified, we recommend flank laparoscopy for correction.

Extracranial carotid artery pseudoaneurysm due to Mycobacterium tuberculosis

2020 ◽  
Vol 28 (5) ◽  
pp. 279-281 ◽  
Author(s):  
Surendra Patel ◽  
Alok Kumar Sharma ◽  
Danishwar Meena ◽  
Pawan Kumar Garg ◽  
Sarbesh Tiwari ◽  
...  
Keyword(s):  
Mycobacterium Tuberculosis ◽  
Carotid Artery ◽  
Neck Mass ◽  
Dacron Graft ◽  
Normal Flow ◽  
Artery Pseudoaneurysm ◽  
Extracranial Carotid Artery ◽  
Antitubercular Treatment ◽  
The Right ◽  
Excised Tissue

Mycobacterium tuberculosis is a very rare cause of extracranial carotid artery pseudoaneurysm. A 39-year-old man presented with a rapidly increasing neck mass and hoarseness of voice for 15 days. He was on antitubercular treatment for pulmonary tuberculosis. Computed tomography angiography showed a large pseudoaneurysm of the right common carotid artery. Emergency surgery was performed to excise the pseudoaneurysm sac and repair the artery with a Dacron graft. Postoperative angiography showed normal flow in the carotids and cerebral circulation. Histology of the excised tissue was consistent with a tubercular etiology of the pseudoaneurysm.

Sign in / Sign up

Export Citation Format

Share Document