Bilateral Breast Abscess Caused by E. coli in a Non-lactating Woman: A Rare Case.

PubMed

Şimşek, Gürcan; Gündeş, Ebubekir; Tekin, Şakir; Tavlı, Şakir

2014-07-01

Breast abscess usually occurs during lactation and the responsible organism is often S. Aureus . Breast abscess in non-lactating women is extremely rare and limited data is available in the literature regarding this entity. In our study, a 36-year-old non-lactating female patient who developed bilateral breast abscess due to E. coli infection without any predisposing factors has been discussed in light of the literature.

An extremely rare clinical entity: congenitally corrected transposition with situs ınversus and single coronary artery presented with complete atrioventricular block in a young man.

PubMed

Cirakoglu, Omer Faruk; Bayraktar, Ali; Sayin, Muhammet Rasit

2018-05-01

Congenitally corrected transposition of the great arteries is a rare form of CHD. Situs inversus is a much less common variant of a congenitally corrected transposition of the great arteries. In rare cases, transposition events may be accompanied by various cardiac anomalies. However, situs inversus patients with congenitally corrected transposition, single coronary artery anomaly, and atrioventricular block together have not been reported previously. This combination of abnormalities is presented as a first in the literature.

Solitary plasmacytoma of the mandible - a rare entity.

PubMed

Baad, Rajendra; Kapse, Sonam C; Rathod, Nanita; Sonawane, Kishor; Thete, Sanjay Gangadhar; Kumar, M Naveen

2013-06-01

Plasma cell dyscrasias (multiple myeloma, solitary plasmocytoma of bone and extra medullary plasmocytoma) are cha¬racterized by a monoclonal neoplastic proliferation of plasma cells of which Solitary plasmocytoma of bone (SPB) is a localized form. SPB is most frequently seen in vertebrae and secondarily in long bones. Its presence in jaws is extremely rare. The malignant plasma cells express monotypic cytoplasmic immunoglobulins and plasma cell-associated antigens, with an absence of immature B-cell antigens. Here we report a unique case of plasmacytoma in the right side of mandible, a chronology for diagnosis of the lesion is also reviewed along with clinical, radiographic, histopathological and immunohistochemical evidence. How to cite this article: Baad R, Kapse S C, Rathod N, Sonawane K, Thete S G, Naveen M K. Solitary Plasmacytoma of the Mandible - A Rare Entity. J Int Oral Health 2013; 5(3):97-101.

Brown tumors of the anterior skull base as the initial manifestation of true normocalcemic primary hyperparathyroidism: report of three cases and review of the literature.

PubMed

Khalatbari, Mahmoud Reza; Hamidi, Mehrdokht; Moharamzad, Yashar; Setayesh, Ali; Amirjamshidi, Abbas

2013-01-01

Brown tumor is a bone lesion secondary to hyperparathyroidism of various etiologies. Skeletal involvement in primary hyperparathyroidism secondary to parathyroid adenoma is very uncommon and brown tumor has become extremely a rare clinical entity. Hyperparathyroidism is usually associated with high levels of serum calcium. Brown tumor as the only and initial symptom of normocalcemic primary hyperparathyroidism is extremely rare. Moreover, involvement of the skull base and the orbit is exceedingly rare. The authors would report three cases of brown tumor of the anterior skull base that were associated with true normocalcemic primary hyperparathyroidism. Clinical manifestations, neuroimaging findings, pathological findings, diagnosis and treatment of the patients are discussed and the relevant literature is reviewed.

Bilateral Breast Abscess Caused by E. coli in a Non-lactating Woman: A Rare Case

PubMed Central

Şimşek, Gürcan; Gündeş, Ebubekir; Tekin, Şakir; Tavlı, Şakir

2014-01-01

Breast abscess usually occurs during lactation and the responsible organism is often S. Aureus. Breast abscess in non-lactating women is extremely rare and limited data is available in the literature regarding this entity. In our study, a 36-year-old non-lactating female patient who developed bilateral breast abscess due to E. coli infection without any predisposing factors has been discussed in light of the literature. PMID:28331665

Giant Circumflex Artery Aneurysm with a Coronary Sinus Fistula.

PubMed

Libertini, Richard; Walbridge, David; Jones, Hefin R; Gunning, Mark; Satur, Christopher Mr

2018-05-12

Giant coronary artery aneurysms (GCCAA) are extremely rare entities, and of the circumflex artery we are aware of only 13 case reports. We therefore provide this case report to add evidence of the natural history and pathophysiology and describe successful surgical treatment of the condition. Copyright © 2018. Published by Elsevier Inc.

Fibrosarcoma of nose and paranasal sinuses.

PubMed

Agarwal, M K; Gupta, S; Gupta, O P; Samant, H C

1980-01-01

Involvement of nose and maxilla by fibrosarcoma is extremely rare. Only a few cases of fibrosarcoma arising in this region are reported in the world literature. Two cases of fibrosarcoma are described, and the literature relating to this disease entity is briefly reviewed. Salient features helping in the diagnosis and management of fibrosarcoma also are highlighted.

Juvenile granulosa cell tumor of testis: case report and review of literature.

PubMed

Dudani, Rajesh; Giordano, Lisa; Sultania, Priyanka; Jha, Kamlesh; Florens, Adrian; Joseph, Tessy

2008-04-01

Juvenile granulosa cell tumor (JGCT) of testis is extremely rare in childhood. It is considered a benign entity because metastasis has never been reported. Testicular-sparing surgery is the recommended treatment. We reported this case in a newborn who presented with unilateral scrotal swelling. Histopathology and immunohistochemistry confirmed JGCT. Follow-up at 6 months after surgery did not show any recurrence. Even though JGCT is very rare in childhood, it is one of the important differentials of newborn scrotal mass.

Unilocular cystic lymphangioma of thigh-an extremely rare clinical entity.

PubMed

Thakur, Sudhir Kumar

2010-10-01

Majority of cystic lymphangiomas are multilocular and occur in neck and axilla. The cystic lymphangioma is also known as cystic hygroma. Unilocular cystic hygroma of neck and breast have been reported in literature and have been termed hydrocele of neck and breast respectively. However unilocular cystic hygroma of thigh is probably being reported for the first time.

Case report : tuberculosis liver abscess in male alcoholism patient

NASA Astrophysics Data System (ADS)

Siahaan, W. P.; Ginting, F.

2018-03-01

A liver abscess often occurs in low-middle income countries such as Indonesia. Two most common liver abscesses are amoebic and pyogenic liver abscess. Data that reported tuberculosis liver abscess (TLA) is extremely rare. A diagnostic criterion for tuberculosis liver abscess is rare and remains unclear. A 52-year-old man developed a TLA which was not associated with any pulmonary or gastrointestinal tract foci of tuberculosis. An ultrasonogram and abdominal scan showed an abscess in the right lobe. We performed paracentesis, and the pus from the lesion was positive tubercular bacilli on acid-fast bacilli staining. The patient was started on systemic antitubercular therapy to which he responded favorably. This report emphasizes the fact that, although a TLA is a very rare entity, it should be included in the differential diagnosis of liver abscess especially in Indonesia where the prevalence of tuberculosis is extremely high.

A rare giant scalp dermatofibrosarcoma protuberans

PubMed Central

Arifin, Muhammad Z.; Yudoyono, Farid; Dahlan, Rully H.; Hernowo, Bethy S.; Sutiono, Agung B.; Faried, Ahmad

2014-01-01

Background: Giant dermatofibrosarcoma protuberans (DFSP) of the scalp is a rare case, which is an intermediate grade soft tissue neoplasm originating from the dermal layer of the skin, which usually occurs in adults. Case Description: We describe such a case in a 26-year-old male. A wide local excision of the tumor with a generous tissue margin was performed; microscopic and immunohistochemical findings established the diagnosis of recurrent DFSP. Conclusion: Our case is unique in that it is presented as a dermatofibrosarcoma protuberans of the scalp, which is an extremely rare clinical entity, and the patient remains well after 14 months with no further treatment, without any tumor recurrence. PMID:24818052

A rare cause of pleural effusion: ruptured primary pleural hydatid cyst.

PubMed

Erkoç, Mustafa Fatih; Öztoprak, Bilge; Alkan, Sevil; Okur, Aylin

2014-03-06

Hydatidosis is an endemic parasitic disease in Mediterranean countries, often caused by the dog tapeworm Echinococcus granulosus. The disease predominantly affects the liver (60-70%) and lungs (30%), and the surgical management is considered as the gold standard for treatment. Besides anaphylactic reactions, the most frequent complication of the hydatid disease is rupture into neighbouring structures, often affecting the bronchi, gastrointestinal tract and peritoneal/pleural cavities, according to its location. Primary pleural hydatidosis is an extremely rare entity and we present a ruptured pleural hydatid cyst with unusual location.

Salivary duct cyst on lower lip: A rare entity and literature review

PubMed Central

Tandon, Ankita; Sircar, Keya; Chowdhry, Aman; Bablani, Deepika

2014-01-01

Mucocele forms because of salivary gland mucous extravasation or retention and is usually related to trauma in the area of the lower lips. Salivary duct cyst, however, is a type of mucous retention cyst which is almost never located on the lower lip. The aim of this paper is to report this extremely rare salivary duct cyst present on the lower lip and to critically review the literature to build important concepts that would help clinicians in the diagnosis and treatment of this pathology. PMID:25364168

Salivary duct cyst on lower lip: A rare entity and literature review.

PubMed

Tandon, Ankita; Sircar, Keya; Chowdhry, Aman; Bablani, Deepika

2014-09-01

Mucocele forms because of salivary gland mucous extravasation or retention and is usually related to trauma in the area of the lower lips. Salivary duct cyst, however, is a type of mucous retention cyst which is almost never located on the lower lip. The aim of this paper is to report this extremely rare salivary duct cyst present on the lower lip and to critically review the literature to build important concepts that would help clinicians in the diagnosis and treatment of this pathology.

Primary cutaneous adenosquamous carcinoma of the penis: the first characterization of HPV status in this rare and diagnostically challenging entity with review of glandular carcinomas of the penis.

PubMed

Rush, P S; Shiau, J M; Hibler, B P; Longley, B J; Downs, T M; Bennett, D D

2016-12-01

Glandular and pseudoglandular tumors of the penile skin are extremely uncommon and can present diagnostic challenges. Primary adenosquamous carcinoma of the penis is an extremely rare tumor, composed of distinct areas of malignant squamous and glandular cells, making it a diagnostically challenging entity. The World Health Organization (WHO) recognizes several subtypes of squamous cell carcinoma (SCC), each with its own distinctive pathologic appearance, clinical associations and prognosis. Among these variants is the exceedingly uncommon adenosquamous carcinoma (ASC), representing 1%-2% of all SCC of the penis. Recent large studies have interrogated the presence of human papillomavirus (HPV) in malignant penile tumors and have shown specific morphologic patterns and clinical presentations to associate with HPV status. However, given the rarity of the adenosquamous variant of SCC, it has largely been excluded from these studies. The glandular components of these lesions can present a confusing appearance, particularly when a large tumor is represented on a small biopsy. Here we describe a difficult histologic presentation of this rare tumor, with the first published characterization of the HPV status of this subtype. This case represents a distinctly unusual case of metastatic HPV-positive primary cutaneous adenosquamous carcinoma of the penis. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Soft tissue fibrosarcoma of pre maxillary region in an adult: report of a unique pathological entity

PubMed Central

Naik, Smitha K.; Astekar, Madhusudhan; Rao, Dinesh

2012-01-01

Fibrosarcoma of the oral and maxillofacial region is a rare entity with poor prognosis. Most common sites are the extremities, with only one percent of fibrosarcoma arising in the head and neck area. Oral fibrosarcoma are locally infiltrative and destructive, spreads by haematogenous dissemination. The positive immunostaining for vimentin, together with negativity for muscular immunomarkers help to diagnosis the fibrosarcoma. Surgical management of fibrosarcoma in maxillofacial region is far from satisfactory, because of lack of inadequate clearance. This paper describes an unusual case of soft tissue fibrosarcoma of premaxillary region in an adult aged 71 years. PMID:24765457

Multifocal Epithelial Hyperplasia of Oral Cavity Expressing HPV 16 Gene: A Rare Entity

PubMed Central

Prabhat, M. P. V.; Raja Lakshmi, Chintamaneni; Sai Madhavi, N.; Bhavana, Sujana Mulk; Sarat, Gummadapu; Ramamohan, Kodali

2013-01-01

Focal epithelial hyperplasia is a rare contagious disease caused by human papilloma virus. Usually HPV involves either cutaneous or mucosal surfaces, whereas concomitant mucocutaneous involvement is extremely rare. We report such a unique case of multifocal epithelial hyperplasia involving multiple sites of oral cavity along with skin lesions in a 65-year-old female. We also discuss the probable multifactorial etiology and variable clinical presentations of the lesions, including evidence of HPV 16 expression, as detected by polymerase chain reaction. The present report illustrates the need for careful examination and prompt diagnosis of the disease, as it might be associated with high risk genotypes such as HPV 16 and 18. PMID:24455323

Anaplastic Sarcoma of the Kidney

PubMed Central

Labanaris, Apostolos P.; Zugor, Vahudin; Smiszek, Robert; Nützel, Reinhold; Kühn, Reinhard

2009-01-01

We present a case of an extremely rare and relatively new tumor entity of the kidney, the anaplastic sarcoma. Although of unknown origin and pathogenesis, treating such a tumor as if it was anaplastic Wilms' tumor seems to be the only therapeutic solution at the present time. Newer immunohistochemical staining and molecular probes should be applied to this neoplasm in order for us to understand it nature and maximize therapy. PMID:19219373

Development of Grave's disease seven months after Hashimoto's thyroiditis: a rare occurrence.

PubMed

Bravo-Llerena, Wilfredo Eddy; Valderrabano-Wagner, Rodrigo J; Quevedo-Quevedo, Juan; Reyes-Ortiz, Luis M

2010-01-01

Hashimoto's thyroiditis (HT) and Graves' disease (GD) are two opposite poles in the spectrum of autoimmune thyroid disease. On one extreme, HT or Chronic Lymphocytic thyroiditis (CLT) courses, as its name implies, with lymphocytic infiltrates replacing thyroid follicles, resulting in a loss of hormone-producing cells and, thus, primary hypothyroidism. On the other extreme, GD is characterized by primary hyperthyroidism due to stimulating autoantibodies against thyroid-stimulating hormone receptors (TSHRs) localized on thyrocytes' membranes of intact thyroid follicles. The presence of HT after GD or the concomitant combination of these two autoimmune entities ending in HT-depending hypothyroid state is well known. However, occurrence of GD after primary hypothyroidism due to CLT is very rare since thyrocytes with their TSHRs are promptly lost. We report a case in which hyperthyroidism occurred seven months after presentation of primary hypothyroidism and discuss potential mechanisms involved.

Spontaneous rupture of a giant non parasitic hepatic cyst presenting as an acute surgical abdomen.

PubMed

Salemis, Nikolaos S; Georgoulis, Epameinondas; Gourgiotis, Stavros; Tsohataridis, Efstathios

2007-01-01

Spontaneous rupture of a non parasitic hepatic cyst is an extremely rare occurrence. A 50 -year- old male, was admitted with typical clinical manifestations of acute surgical abdomen. At exploratory laparotomy, a giant ruptured non parasitic cyst occupying the entire left liver lobe was found, along with a large amount of free intraperitoneal fluid. The cyst was widely unroofed very close to the liver parenchyma. The patient had an uneventful postoperative course and was discharged six days later. The clinical presentation, diagnostic evaluation and surgical management of this extremely rare clinical entity are discussed, along with a review of the literature. This case, which according to our best knowledge is the fourth reported in the literature, highlights the considerable risk of serious complications associated with the presence of a large symptomatic nonparasitic hepatic cyst. Prophylactic treatment should be considered in all these cases.

Large dermoid cyst of the spermatic cord presenting as an incarcerated hernia: a rare presentation and literature review.

PubMed

Salemis, N S; Karagkiouzis, G; Sambaziotis, D; Tsiambas, E

2010-06-01

Dermoid cyst of the spermatic cord is a very rare clinical entity with only a few cases reported in the literature so far. We herein describe an extremely rare case of a large dermoid cyst of the spermatic cord measuring 8.5 x 5 x 5 cm in a young patient who presented with clinical manifestations of an incarcerated inguinal hernia. After the cyst excision, a diffuse direct hernia became apparent and a Lichtenstein polypropylene mesh repair was performed. Direct hernia was likely the result of chronic pressure on the inguinal floor maintained by the large cyst. We conclude that although very rare, dermoid cyst of the spermatic cord should be considered as a part of the differential diagnosis in patients presenting with an irreducible inguinal mass of a long course.

Psoriasiform keratosis - case report.

PubMed

Pires, Carla Andréa Avelar; Sousa, Brena Andrade de; Nascimento, Carla do Socorro Silva do; Moutinho, Ana Thais Machado; Miranda, Mario Fernando Ribeiro de; Carneiro, Francisca Regina Oliveira

2014-01-01

Psoriasiform Keratosis is a rare clinic entity. The etiopathogenesis remains unknown and the disease is characterized by a solitary, scaly or keratotic papule, or plaque mainly located on the extremities. Histopathological features closely resemble those of psoriasis. We report the case of a 70-year-old woman presenting a solitary and asymptomatic keratotic plaque, located on the back of the left leg, unresponsive to topical corticosteroids. We performed an excisional biopsy and histopathology was consistent with psoriasiform keratosis.

Recurrent phyllodes tumor in the male breast in a background of gynaecomastia.

PubMed

Chougule, Abhijit; Bal, Amanjit; Rastogi, Pulkit; Das, Ashim

2015-01-01

Phyllodes tumor of the male breast is an extremely rare entity with only a few reports available in the literature. Though exact etiology for development of phyllodes tumor in the male breast is unknown, hormonal imbalance with excess of estrogen action relative to androgen appears to have significant association. This report describes recurrence of phyllodes tumor with malignant features developing in the background of gynaecomastia in a male breast.

Isolated tuberculous liver abscess in an immunocompetent adult patient: A case report and literature review.

PubMed

Chen, Tsung-Chia; Chou, Ling-Tai; Huang, Chen-Cheng; Lai, An-Bang; Wang, Jen-Hsien

2016-06-01

Tuberculous liver abscess is a rare disease entity even in endemic areas of Mycobacterium tuberculosis. It is usually accompanied by pulmonary tuberculosis or enteric tuberculosis. Further, an isolated tuberculous liver abscess is extremely rare. The disease is diagnosed by laparotomy or postmortem autopsy in most cases, and some authors adopted a 9-month antituberculosis regimen. We herein report a case of an isolated tuberculous liver abscess that initially manifested as persistent fever and general malaise, which was diagnosed by liver biopsy and treated successfully with a 6-month antituberculosis regimen and percutaneous abscess drainage. Copyright © 2013. Published by Elsevier B.V.

Psoriasiform Keratosis - Case report*

PubMed Central

Pires, Carla Andréa Avelar; de Sousa, Brena Andrade; do Nascimento, Carla do Socorro Silva; Moutinho, Ana Thais Machado; de Miranda, Mario Fernando Ribeiro; Carneiro, Francisca Regina Oliveira

2014-01-01

Psoriasiform Keratosis is a rare clinic entity. The etiopathogenesis remains unknown and the disease is characterized by a solitary, scaly or keratotic papule, or plaque mainly located on the extremities. Histopathological features closely resemble those of psoriasis. We report the case of a 70-year-old woman presenting a solitary and asymptomatic keratotic plaque, located on the back of the left leg, unresponsive to topical corticosteroids. We performed an excisional biopsy and histopathology was consistent with psoriasiform keratosis. PMID:24770510

Synchronous GIST with osteoclast-like giant cells and a well-differentiated neuroendocrine tumor in Ampula Vateri: coexistence of two extremely rare entities.

PubMed

Koçer, N Emrah; Kayaselçuk, Fazilet; Calişkan, Kenan; Ulusan, Serife

2007-01-01

Mesenchymal tumors of the gastrointestinal system with variable histopathological appearances and constant expression of CD117 are known as gastrointestinal stromal tumors (GISTs). Neuroendocrine tumors may be seen in the gastrointestinal system and other organ systems of the body. We report a 44-year-old male patient with a 6.5 x 3 x 6cm mass located in the Ampulla of Vater. Histopathologic examination revealed a GIST with a marked nuclear pleomorphism and a high mitotic rate, and that was rich in osteoclast-like giant cells (OGC). Immunohistochemically, GIST was positive for CD117, while OGCs were negative for CD117 and positive for CD68 and alpha1-antitrypsin. There was also found a well-differentiated neuroendocrine tumor near the GIST, in the serosal aspect of the duodenum at the point of the Ampulla of Vater. This second tumor was 20mm in diameter, and was relatively well circumscribed with few glands invading the GIST. This tumor was positive for synaptophysin and chromogranin. Neither mitosis nor vascular invasion was observed. The patient had no familial history or clinical manifestations of neurofibromatosis. This case presents the unique synchronous existence of two extremely rare entities, a GIST with OGC and a well-differentiated neuroendocrine tumor, both located in the Ampulla of Vater.

Neuroendocrine carcinoma of the larynx with metastasis to the eyelid.

PubMed

Assi, Hussein A; Patel, Raina; Mehdi, Syed

2015-10-01

Neuroendocrine tumors are a rare type of neoplasms that comprise only 0.5% of all malignancies.¹ They usually arise from the gastrointestinal tract and the lung.¹,² Neuroendocrine carcinoma of the head and neck is a relatively rare malignancy described in the literature. The larynx is the most commonly affected region of the head and neck.³,⁴ Nevertheless, small-cell carcinoma comprises only 0.5% of all laryngeal cancers.⁵ Neuroendocrine carcinoma of the larynx carries variable prognosis depending on the histological subtype.⁶ Typical carcinoid rarely metastasizes, but atypical carcinoid and small-cell carcinoma have high rates of metastasis, usually in the lung and liver.² Cutaneous metastasis from neuroendocrine carcinoma is an extremely rare entity, with only few cases reported in the English literature.⁷,⁸ We report the case of an elderly man with recurrent laryngeal neuroendocrine carcinoma with metastasis to the eyelid. ©2015 Frontline Medical Communications.

Hypopharyngeal perforation because of blunt neck trauma.

PubMed

Salemis, Nikolaos S; Georgiou, Charalambos; Alogdianakis, Evangelos; Gourgiotis, Stavros; Karalis, Georgios

2009-01-01

Hypopharyngeal rupture because of blunt neck trauma is an extremely rare clinical entity. Early diagnosis and appropriate management are of great importance, given that an overlooked injury can lead to catastrophic consequences. We herein describe the case of a 21-year-old man who presented with a knee injury after a low-speed motor cycle accident, but was otherwise asymptomatic. A detailed history was taken, whereas thorough clinical examination revealed slight tenderness of the anterior neck. Complete imaging examinations finally revealed characteristic findings of hypopharyngeal perforation. The patient was treated conservatively with success. A high degree of clinical suspicion is therefore the key to an early diagnosis and successful management of this rare injury.

Infrasellar craniopharyngioma of the posterior nasal septum: a rare entity.

PubMed

Chiun, Kian Chai; Tang, Ing Ping; Vikneswaran, Tharumalingam; Nurshaline Pauline, H Kipli

2012-02-01

To report an unusual location of infrasellar craniopharyngioma in a peadiatric patient. A six-year-old boy presented with persistent bilateral nasal obstruction for one year. Clinical examination revealed a posterior choanal mass arising from septum and the finding was confirmed by paranasal sinuses computed tomography scan. He then underwent wide local excision. Histopathological examination confirmed the diagnosis of craniopharyngioma (adamantinomatous type). There were no signs and symptoms of recurrence after a year of followup. Infracranial craniopharyngioma without sellar involvement is extremely rare. Persistent nasal obstruction without endocrine dysfunction is the common presentation. Radiological imaging is important to diagnose and assess the extent. The mainstay of treatment for infrasellar craniopharyngioma is surgery. Regular follow up is mandatory.

Calcifying (juvenile) aponeurotic fibroma of the scalp.

PubMed

Thakur, Jagdeep S; Diwana, Vijay K; Sharma, Sudarshan; Thakur, Anamika

2011-10-01

Calcifying aponeurotic fibroma is a benign tumor with a predilection for distal parts of the extremities; it is very rare in the head and neck region. It commonly affects young patients-hence the term juvenile in the name. It is fibroblastic in origin and considered a cartilage analogue of fibromatosis, but its exact etiology remains unknown. Clinically, this tumor needs to be differentiated from fibromatosis, nodular fasciitis, chondroma, schwannoma, and rheumatoid nodule. A 24-year-old woman presented with swelling in the forehead for the previous 6 months. Wide surgical excision of the lesion was performed, and histopathologic examination revealed a calcifying aponeurotic fibroma. We reviewed the literature on this rare clinical entity and present our hypothesis on its etiology.

Synchronic volvulus of splenic flexure and caecum: a very rare cause of large bowel obstruction

PubMed Central

Islam, Shariful; Hosein, Devin; Harnarayan, Patrick; Naraynsingh, Vijay

2016-01-01

Colonic volvulus involving the caecum and splenic flexure of the colon is an extremely rare surgical entity and, as a result, it is rarely entertained as a differential diagnosis for large bowel obstruction. The most common site of volvulus is located at the sigmoid colon (75%) followed by caecum (22%). Rare sites of colonic volvulus include the transverse colon (about 2%) and splenic flexure (1–2%). Synchronous double colonic volvulus is very rare. The presentation of this condition can be similar to the signs and symptoms of large bowel obstruction. CT imaging of the abdomen can be diagnostic; however, the diagnosis is often missed due to the rarity of this condition—in such cases, it can only be made at laparotomy. Management of this condition should be expedited to prevent a fatal outcome. We present the case of a 56-year-old woman with synchronous volvulus of the caecum and splenic flexure of the colon. PMID:26783008

Synchronic volvulus of splenic flexure and caecum: a very rare cause of large bowel obstruction.

PubMed

Islam, Shariful; Hosein, Devin; Harnarayan, Patrick; Naraynsingh, Vijay

2016-01-18

Colonic volvulus involving the caecum and splenic flexure of the colon is an extremely rare surgical entity and, as a result, it is rarely entertained as a differential diagnosis for large bowel obstruction. The most common site of volvulus is located at the sigmoid colon (75%) followed by caecum (22%). Rare sites of colonic volvulus include the transverse colon (about 2%) and splenic flexure (1-2%). Synchronous double colonic volvulus is very rare. The presentation of this condition can be similar to the signs and symptoms of large bowel obstruction. CT imaging of the abdomen can be diagnostic; however, the diagnosis is often missed due to the rarity of this condition--in such cases, it can only be made at laparotomy. Management of this condition should be expedited to prevent a fatal outcome. We present the case of a 56-year-old woman with synchronous volvulus of the caecum and splenic flexure of the colon. 2016 BMJ Publishing Group Ltd.

Immunohistochemical mismatch in a case of rhabdomyoblastic metastatic melanoma.

PubMed

Dumitru, Adrian Vasile; Tampa, Mircea Ştefan; Georgescu, Simona Roxana; Păunică, Stana; Matei, Clara Nicoleta; Nica, Adriana Elena; Costache, Mariana; Motofei, Ion; Sajin, Maria; Păunică, Ioana; Georgescu, Tiberiu Augustin

2018-01-01

Melanomas can exhibit a wide range of unusual morphologies due to the neural crest origin of melanocytes. Several authors have documented variations in size and shape of cells, cytoplasmic features and inclusions, nuclear features and cell architecture. Metastatic melanoma with rhabdomyoblastic differentiation is an extremely rare condition with poor prognosis. Few studies concerning rhabdoid or rhabdomyoblastic differentiation in melanoma are currently available and the current report highlights some of the most important immunohistochemical features of this rare entity. We report on a case of a rhabdomyoblastic metastatic melanoma showing intense positivity for both melanocytic and rhabdoid markers in two cell populations dissociated within the tumor with multiple mismatches in immunomarker expression. Improved recognition of this rare morphological pattern may provide the means for developing new techniques to identify novel therapeutic targets, which would improve the prognostic outlook for these patients.

Giant cell angiofibroma of the scalp: A benign rare neoplasm with bone destruction

PubMed Central

Arifin, Muhammad Z.; Tjahjono, Firman P.; Faried, Ahmad; Gill, Arwinder S.; Cahyadi, Alexander; Hernowo, Bethy S.

2013-01-01

Background: The incidence of extraorbital giant cell angiofibroma (GCA) is rare, with only one case located in the scalp reported in the literature. The morphological hallmark is histopathological examination showing richly vascularized pattern-less spindle cell proliferation containing pseudovascular spaces and floret-like multinucleate giant cells. Case Description: We report a case of a 30-year-old female with a primary complaint of a painless solitary nodule arising on the left parietal region of the scalp. Complete tumor removal through surgical intervention was achieved, and the postoperative period was uneventful. Conclusion: Diagnosing a highly vascularized tumor in the head and neck is challenging. Our case is unique in that it is presented as a GCA of the scalp, which is an extremely rare clinical entity, and also demonstrated bone destruction. PMID:24231802

[Carcinosarcoma of the breast a rare entity with fatal prognosis. One case report].

PubMed

Villalón-López, José Sebastián; Souto-del Bosque, Rosalía; Alonso-Briones, Marco Vinicio; Trujillo-de Anda, Ana Patricia

2013-01-01

breast metaplastic carcinomas are a heterogeneous group of neoplasms that exhibit a poor prognosis compared with invasive ductal carcinoma. Correspond less than 1% of all malignant neoplasms of the mammary gland. They usually present as high-grade tumors with a lower rate of lymph node metastases and decreased expression of estrogen and progesterone receptors and Her2 and increased expression of Her1 and Ki-67. we report a 52 year old woman with a breast carcinosarcoma presented with a left breast tumor fungated, ulcerated, polypoid and 18 cm in major diameter with lymph node metastases at diagnosis. She received multimodal management with neoadjuvant chemotherapy, followed by mastectomy and adjuvant chemotherapy; she presented progression of the disease with lung metastases and local massive recurrence, eventually died from complications associated to the disease. metaplastic carcinomas of the breast are extremely rare entities. Due the nature of disease and presentation, the prognosis is poor in these patients. There are several histologic subtypes based on studies of hematoxylin and eosin and immunohistochemical stains. It requires multimodal therapy (surgery, radiotherapy and chemotherapy) for best results.

Appendiceal diverticulum associated with chronic appendicitis

PubMed Central

Zubieta-O’Farrill, Gregorio; Guerra-Mora, José Raúl; Gudiño-Chávez, Andrés; Gonzalez-Alvarado, Carlos; Cornejo-López, Gilberto Bernabe; Villanueva-Sáenz, Eduardo

2014-01-01

INTRODUCTION Appendiceal diverticulosis is a rare entity, with a global incidence between 0.004% and 2.1% of all appendectomies. It has been related with an elevated risk of perforation in comparison to acute appendicitis, as well as an increased risk for synchronic appendicular cancer in 48% of the cases, and colonic cancer in 43%. The incidence of chronic appendicitis has been reported in 1.5% of all appendicitis cases. PRESENTATION OF CASE We present a 73-year-old female, with no relevant familial history, who presented due to a four-month-long oppressive, moderate pain in the lower right abdominal quadrant without irradiation or any other accompanying symptoms. DISCUSSION The documented incidence of appendiceal diverticula and chronic appendicitis by themselves is low; therefore the presence of both entities at the same time is extremely rare. CONCLUSION We present a case in which both diagnoses concurred in the same patient. The relevance of this case relies on the importance of the adequate knowledge of these pathologies, so we can approach them correctly. Although it does not represent an absolute surgical emergency, appendectomy represents the first therapeutic option. PMID:25460447

Perforated appendix and periappendicular abscess within an inguinal hernia.

PubMed

Salemis, N S; Nisotakis, K; Nazos, K; Stavrinou, P; Tsohataridis, E

2006-12-01

We report an extremely rare case of complicated Amyand's hernia. A 61-year-old male patient was admitted with clinical signs of incarcerated right inguinal hernia and localised tenderness in the right iliac fossa. He underwent emergency surgery and the operative findings included perforated appendix and periappendicular abscess within a right inguinal hernia sac. Appendectomy and Shouldice's herniorrhaphy without prosthetic mesh placement were performed. Histology revealed the presence of a villous adenoma near the base of the appendix. We point out that although Amyand's hernia is a very rare clinical entity, it should always be considered in the differential diagnosis in cases with clinical signs of incarcerated right inguinal hernia, especially when there are no pathological findings on the abdominal X-rays.

[Congenital sensorineural deafness and associated syndromes].

PubMed

Moatti, L; Garabedian, E N; Lacombe, H; Spir-Jacob, C

1990-01-01

The etiology of perceptive deafness, especially the congenital variety, requires investigation. The presence of a variety of signs associated with deafness constitutes an "associated syndrome" and helps to define a possible genetic origin. These syndromes only represent a small percentage of overall causes of deafness in children, since at most they account for only 10% of cases. Certain syndromes are encountered more often or are well known, others are extremely rare or have only been described recently. The authors report six of these very rare syndromes discovered among their patients: a KID syndrome, a Leopard syndrome, a Norrie syndrome, a Jervell and Lange Nielsen syndrome, a recently described entity called CEE with deafness and an External Neuro-Cochleo-Pancreatic syndrome which would not appear to have been previously described.

Catamenial Pain in Umbilical Hernia with Spontaneous Reduction: An Unusual Presentation of a Rare Entity.

PubMed

Pandey, Divya; Sharma, Ritu; Salhan, Sudha

2015-08-01

Spontaneous umbilical endometriosis occurring in absence of any previous abdominal or uterine surgery is extremely atypical. Its association with umbilical hernia is very rare and hernia getting spontaneously resolved has not been reported in literature so far. Here we report a case of a patient with spontaneous umbilical endometriosis associated with umbilical hernia which led to spontaneous hernia reduction. This was also associated with multiple uterine fibromyoma and bilateral ovarian endometrioma which were simultaneously treated by total abdominal hysterectomy with bilateral salpingo-oopherectomy along with surgical excision of the endometriotic tissue and repair of the abdominal wall defect. To the best of our knowledge, this is the first described case of spontaneous umbilical hernia reduction due to development of endometriosis.

Mucinous cystadenocarcinoma of the breast: the challenge of diagnosing a rare entity

PubMed Central

Koufopoulos, Nektarios; Goudeli, Christina; Syrios, John; Filopoulos, Evangelos; Khaldi, Lubna

2017-01-01

Mucinous cystadenocarcinoma is an extremely rare variant of primary breast tumor which is histologically similar to mucinous cystadenocarcinoma of the ovary and pancreas. Herein we report a case of a 63 years old woman diagnosed with diverse histological types of non-synchronous rare primary breast tumors, a medullary carcinoma of the right breast and a mucinous cystadenocarcinoma of the left breast. Macroscopically the neoplasm appeared multilocular filled with mucoid material. Under light microscopy the cystic areas were lined by columnar cells with abundant intracellular and extracellular mucin. Solid areas were composed of tall columnar cells with intracellular mucin. Moderate to marked atypia was noticed and tumor cells stained positive for cytokeratin 7 and negative for cytokeratin 20. Moreover tumor cells displayed a basal like immunophenotype expressed as followed: ER negative, PR negative, HER-2 negative, cytokeratin (CK5/6) positive and EGFR positive. PMID:29081926

Mucinous cystadenocarcinoma of the breast: the challenge of diagnosing a rare entity.

PubMed

Koufopoulos, Nektarios; Goudeli, Christina; Syrios, John; Filopoulos, Evangelos; Khaldi, Lubna

2017-10-03

Mucinous cystadenocarcinoma is an extremely rare variant of primary breast tumor which is histologically similar to mucinous cystadenocarcinoma of the ovary and pancreas. Herein we report a case of a 63 years old woman diagnosed with diverse histological types of non-synchronous rare primary breast tumors, a medullary carcinoma of the right breast and a mucinous cystadenocarcinoma of the left breast. Macroscopically the neoplasm appeared multilocular filled with mucoid material. Under light microscopy the cystic areas were lined by columnar cells with abundant intracellular and extracellular mucin. Solid areas were composed of tall columnar cells with intracellular mucin. Moderate to marked atypia was noticed and tumor cells stained positive for cytokeratin 7 and negative for cytokeratin 20. Moreover tumor cells displayed a basal like immunophenotype expressed as followed: ER negative, PR negative, HER-2 negative, cytokeratin (CK5/6) positive and EGFR positive.

Cushing Disease in a patient with Multiple Endocrine Neoplasia type 2B.

PubMed

Kasturi, Kannan; Fernandes, Lucas; Quezado, Martha; Eid, Mary; Marcus, Leigh; Chittiboina, Prashant; Rappaport, Mark; Stratakis, Constantine A; Widemann, Brigitte; Lodish, Maya

2017-06-01

Multiple endocrine neoplasia type 2B (MEN2B) is a rare autosomal-dominant cancer syndrome characterized in part by metastatic medullary thyroid cancer (MTC) and pheochromocytoma. Cushing disease is a rare cause of endogenous hypercortisolism in children. We describe a 21-year-old African-American male who was diagnosed at age 10 with an ACTH-secreting pituitary microadenoma. At age 16 he developed medullary thyroid cancer and was found to have multiple endocrine neoplasia type 2B with the characteristic M918T mutation of the RET proto-oncogene. Following thyroidectomy, he was initiated on Vandetanib, a tyrosine kinase inhibitor, and has since had stable disease over the last 5 years. Our patient is the first individual with MEN2B to be described with Cushing disease. The RET oncogene may play a role in pituitary tumorigenesis; alternatively, the coexistence of these two entities may represent an extremely rare coincidence.

Metastatic giant basal cell carcinoma: a case report.

PubMed

Bellahammou, Khadija; Lakhdissi, Asmaa; Akkar, Othman; Rais, Fadoua; Naoual, Benhmidou; Elghissassi, Ibrahim; M'rabti, Hind; Errihani, Hassan

2016-01-01

Basal cell carcinoma is the most common skin cancer, characterised by a slow growing behavior, metastasis are extremely rare, and it occurs in less than 0, 1% of all cases. Giant basal cell carcinoma is a rare form of basal cell carcinoma, more aggressive and defined as a tumor measuring more than 5 cm at its largest diameter. Only 1% of all basal cell carcinoma develops to a giant basal cell carcinoma, resulting of patient's negligence. Giant basal cell carcinoma is associated with higher potential of metastasis and even death, compared to ordinary basal cell carcinoma. We report a case of giant basal cell carcinoma metastaticin lung occurring in a 79 years old male patient, with a fatal evolution after one course of systemic chemotherapy. Giant basal cell carcinoma is a very rare entity, early detection of these tumors could prevent metastasis occurrence and improve the prognosis of this malignancy.

Typhoid ulcer causing life-threatening bleeding from Dieulafoy's lesion of the ileum in a seven-year-old child: a case report

PubMed Central

2010-01-01

Introduction We describe a case of rare complication of typhoid fever in a seven-year-old child and review the literature with regard to other rare causes of bleeding per rectum. Dieulafoy's lesion is an uncommon but important cause of recurrent gastrointestinal bleeding. Dieulafoy's lesion located extragastrically is rare. We report a case of typhoid ulcer with Dieulafoy's lesion of the ileum causing severe life-threatening bleeding and discuss the management of this extremely uncommon entity. Case presentation As a complication of typhoid fever, a seven-year-old Kurdish girl from Northern Iraq developed massive fresh bleeding per rectum. During colonoscopy and laparotomy, she was discovered to have multiple bleeding ulcers within the Dieulafoy's lesion in the terminal ileum and ileocecal region. Conclusion Although there is no practical way of predicting the occurrence of such rare complications, we emphasize in this case report the wide array of pathologies that can result from typhoid fever. PMID:20525295

Typhoid ulcer causing life-threatening bleeding from Dieulafoy's lesion of the ileum in a seven-year-old child: a case report.

PubMed

Ezzat, Rajan Fuad; Hussein, Hiwa A; Baban, Trifa Shawkat; Rashid, Abbas Tahir; Abdullah, Khaled Musttafa

2010-06-03

We describe a case of rare complication of typhoid fever in a seven-year-old child and review the literature with regard to other rare causes of bleeding per rectum. Dieulafoy's lesion is an uncommon but important cause of recurrent gastrointestinal bleeding. Dieulafoy's lesion located extragastrically is rare. We report a case of typhoid ulcer with Dieulafoy's lesion of the ileum causing severe life-threatening bleeding and discuss the management of this extremely uncommon entity. As a complication of typhoid fever, a seven-year-old Kurdish girl from Northern Iraq developed massive fresh bleeding per rectum. During colonoscopy and laparotomy, she was discovered to have multiple bleeding ulcers within the Dieulafoy's lesion in the terminal ileum and ileocecal region. Although there is no practical way of predicting the occurrence of such rare complications, we emphasize in this case report the wide array of pathologies that can result from typhoid fever.

Primary mucinous cystadenocarcinoma of the breast with endocervical-like mucinous epithelium.

PubMed

Lin, Dong-Liang; Hu, Ji-Lin; Shao, Shi-Hong; Sun, Dong-Mei; Wang, Ji-Gang

2013-12-01

Primary mucinous cystadenocarcinoma of the breast is an extremely rare entity. To the best of our knowledge, only 17 patients have been described in the PubMed database. Here, we report a primary breast mucinous cystadenocarcinoma with endocervical-like mucinous epithelium in a 62-year-old woman. The patient was followed for 5 months without any adjuvant treatment and she continues to be disease free. Primary breast mucinous cystadenocarcinoma usually displays unique pathologic and immunohistochemical characteristics simulating its ovarian counterparts; it seems to have a good prognosis after complete resection.

Intramedullary Abscess by Staphylococcus aureus Presenting as Cauda Equina Syndrome to the Emergency Department

PubMed Central

Jumeau, Helene; Lens, François-Xavier

2016-01-01

Cauda equina syndrome (CES) is a rare entity presenting with low back pain, unilateral or bilateral sciatica, motor weakness of lower extremities, sensory disturbance in the perineal area, and urinary and/or faecal incontinence. Those symptoms are secondary to compression of the cauda equina. If not recognized, CES can lead to irreversible disabilities. We report the case of a 77-year-old lady who presented to the emergency department with a ten-day history of back pain as well as urinary incontinence. PMID:27293918

Intramedullary Abscess by Staphylococcus aureus Presenting as Cauda Equina Syndrome to the Emergency Department.

PubMed

Damaskos, Dimitrios; Jumeau, Helene; Lens, François-Xavier; Lechien, Philippe

2016-01-01

Cauda equina syndrome (CES) is a rare entity presenting with low back pain, unilateral or bilateral sciatica, motor weakness of lower extremities, sensory disturbance in the perineal area, and urinary and/or faecal incontinence. Those symptoms are secondary to compression of the cauda equina. If not recognized, CES can lead to irreversible disabilities. We report the case of a 77-year-old lady who presented to the emergency department with a ten-day history of back pain as well as urinary incontinence.

Pneumatosis cystoides intestinalis associated with massive free air mimicking perforated diffuse peritonitis.

PubMed

Sakurai, Yoichi; Hikichi, Masahiro; Isogaki, Jun; Furuta, Shinpei; Sunagawa, Risaburo; Inaba, Kazuki; Komori, Yoshiyuki; Uyama, Ichiro

2008-11-21

While pneumatosis cystoides intestinalis (PCI) is a rare disease entity associated with a wide variety of gastrointestinal and non-gastrointestinal disorders, PCI associated with massive intra- and retroperitoneal free air is extremely uncommon, and is difficult to diagnose differentially from perforated peritonitis. We present two cases of PCI associated with massive peritoneal free air and/or retroperitoneal air that mimicked perforated peritonitis. These cases highlight the clinical importance of PCI that mimics perforated peritonitis, which requires emergency surgery. Preoperative imaging modalities and diagnostic laparoscopy are useful to make an accurate diagnosis.

Severe emphysematous cystitis: Outcome after seven days of antibiotics

PubMed Central

Sereno, Maria; Gómez-Raposo, César; Gutiérrez- Gutiérrez, Gerardo; López-Gómez, Miriam; Casado, Enrique

2011-01-01

We present the case of a 70-year-old woman with emphysematous cystitis. She was a diabetic patient and she was on chemotherapy treatment for a breast cancer. She complaint of severe asthenia and pain in her right lower extremity, but no fever or urinary symptoms. A computed tomography (CT) scan was suggestive of severe emphysematous cystitis. Emphysematous cystitis is a rare clinically entity, more commonly seen in diabetic, immunocompromised patients. A conservative treatment approach using antibiotics and bladder catheterization is typically successful, with a complication rate less than 20%. PMID:22363178

A case presentation of bilateral simultaneous Bell's palsy.

PubMed

Kilic, Rahmi; Ozdek, Ali; Felek, Sevim; Safak, M Asim; Samim, Erdal

2003-01-01

Bilateral simultaneous facial paralysis is an extremely rare clinical entity. Unlike the unilateral form, bilateral facial paralysis seldom falls into Bell's category. It is most often a special finding in a symptom complex of a systemic disease; many of them are potentially life-threatening, and therefore the condition warrants urgent medical intervention. Lyme disease, Guillian-Barre syndrome, Bell's palsy, leukemia, sarcoidosis, bacterial meningitis, syphilis, leprosy, Moebius syndrome, infectious mononucleosis, and skull fracture are the most common cause of bilateral facial paralysis. Here we present a 16-year-old patient with bilateral simultaneous Bell's palsy.

Extranasopharyngeal angiofibroma of nasal septum. A controversial entity

PubMed Central

Tasca, I; Ceroni Compadretti, G

2008-01-01

Summary The term extranasopharyngeal angiofibroma has been applied to vascular, fibrous nodules occurring outside the nasopharynx. The maxillary sinus is the most common site involved, while the nasal septum represents an extremely rare localization. Computerized tomography scan and magnetic resonance imaging are used to determine the tumour site and its extension. Surgical excision of the mass is the treatment of choice, and recurrence is rare. Typically, clinical characteristics of extranasopharyngeal angiofibromas do not conform with that of nasopharyngeal angiofibromas and, for this reason, these tumours must be regarded as a separate entity. Due to these different features, extranasopharyngeal angiofibromas can present a diagnostic challenge and a meticulous evaluation with a high index of suspicion is essential in establishing the correct diagnosis and treatment. We report the case of a 57-year-old female with a 1-year history of a slowly progressing right nasal obstruction due to the presence of a whitish mass adhering to the posterior nasal septum. The patient was succesfully treated surgically. Histopathological findings were compatible with a diagnosis of angiofibroma. Extranasopharyngeal angiofibroma must be taken into consideration in the differential diagnosis of nasal vascular tumours and nasal septum should be regarded as a potential, though exceptional, localization of these neoplasms. PMID:19205598

Primary pericranial Ewing's sarcoma on the temporal bone: A case report.

PubMed

Kawano, Hiroto; Nitta, Naoki; Ishida, Mitsuaki; Fukami, Tadateru; Nozaki, Kazuhiko

2016-01-01

Primary Ewing's sarcoma originating in the pericranium is an extremely rare disease entity. A 9-year-old female patient was admitted to our department due to a left temporal subcutaneous mass. The mass was localized under the left temporal muscle and attached to the surface of the temporal bone. Head computed tomography revealed a mass with bony spicule formation on the temporal bone, however, it did not show bone destruction or intracranial invasion. F-18 fluorodeoxyglucose positron emission tomography showed no lesions other than the mass on the temporal bone. Magnetic resonance imaging showed that the mass was located between the temporal bone and the pericranium. The mass was completely resected with the underlying temporal bone and the overlying deep layer of temporal muscle, and was diagnosed as primary Ewing's sarcoma. Because the tumor was located in the subpericranium, we created a new classification, "pericranial Ewing's sarcoma," and diagnosed the present tumor as pericranial Ewing's sarcoma. We herein present an extremely rare case of primary pericranial Ewing's sarcoma that developed on the temporal bone.

[Imflammatory myofibroblastic tumour of nose and paranasal sinuses in a little girl of 7-year-old].

PubMed

Lawson, S L A; Azoumah, D K; Lawson-Evi, K; N'Timon, B; Savi de Tove, H-M; Yehouessi-Vignikin, B; Kpemissi, E

2010-01-01

Inflammatory myofibroblastic tumours (IMTs) are clinical and pathological distinct entities with controversial biological entities. IMTs have been described in the lungs, abdomen, retroperitoneum and extremities but rarely in the head and neck region. This case report corresponds to an IMT of the nose and the paranasal sinuses in a little girl of 7 years of age. The computed tomography scan showed an expanding tumoral process without skull destruction. First case report in the west African region, this observation describes the treatment instituted according to the possible care in our medical area, and the treatment when the patient was referred to a centre with efficient technical platform. This case underlines the aggressiveness of this type of tumour: an invasive tumour with local-regional extension and high recurrence potential. Currently, after 2 years, the tumoral process is considered cured after several radical surgical excisions. Copyright 2009 Elsevier Masson SAS. All rights reserved.

Primary Mucinous Cystadenocarcinoma of the Breast with Endocervical-Like Mucinous Epithelium

PubMed Central

Lin, Dong-Liang; Hu, Ji-Lin; Shao, Shi-Hong; Sun, Dong-Mei; Wang, Ji-Gang

2013-01-01

Summary Background Primary mucinous cystadenocarcinoma of the breast is an extremely rare entity. To the best of our knowledge, only 17 patients have been described in the PubMed database. Case Report Here, we report a primary breast mucinous cystadenocarcinoma with endocervical-like mucinous epithelium in a 62-year-old woman. The patient was followed for 5 months without any adjuvant treatment and she continues to be disease free. Conclusions Primary breast mucinous cystadenocarcinoma usually displays unique pathologic and immunohistochemical characteristics simulating its ovarian counterparts; it seems to have a good prognosis after complete resection. PMID:24550753

High Spatial Resolution MRI of Cystic Adventitial Disease of the Iliofemoral Vein Communicating with the Hip Joint

DOE Office of Scientific and Technical Information (OSTI.GOV)

Michaelides, Michael, E-mail: mihalismihailidis@gmail.com; Papas, Stylianos, E-mail: vascular@drpapas.com; Pantziara, Maria, E-mail: mgpantziara@gmail.com

2013-05-14

Venous cystic adventitial disease (CAD) is an extremely rare entity, and so far less than 20 cases have been described in the literature. Herein, we describe the imaging findings of CAD of iliofemoral vein in a 51-year-old woman who presented with leg swelling with special emphasis on high spatial resolution MRI, which demonstrated communication of the cyst with the hip joint. To our knowledge, this is the first description of high spatial resolution MRI findings in venous CAD supporting a new theory about the pathogenesis of venous CAD.

Spinal cord herniation following cervical meningioma excision: a rare clinical entity and review of literature.

PubMed

Aiyer, Siddharth N; Shetty, Ajoy Prasad; Kanna, Rishi; Maheswaran, Anupama; Rajasekaran, S

2016-05-01

Spinal cord herniation following surgery is an extremely uncommon clinical condition with very few reports in published literature. This condition usually occurs as a spontaneous idiopathic phenomenon often in the thoracic spine or following a scenario of post traumatic spinal cord/nerve root injury. Rarely has it been reported following spinal cord tumor surgery. To document a case of cervical spinal cord herniation as a late onset complication following spinal cord tumor surgery with an atypical presentation of monoparesis. Case report. We describe the clinical presentation, operative procedure, post operative outcome and review of literature of this rare clinical condition. A 57-year-old man presented with right upper limb monoparesis due to a spinal cord herniation 6 years after a cervical intradural meningioma excision. The patients underwent surgery to reduce the herniation and duroplasty with subsequent complete resolution of symptoms. Spinal cord herniation must be considered as differential diagnosis in scenarios of spinal cord tumor excision presenting with late onset neurological deficit. These cases may present as paraparesis, Brown-sequard syndrome and rarely as in our case as monoparesis.

Triple ectopic thyroid: A rare entity

PubMed Central

Nilegaonkar, Sujit; Naik, Chetna; Sonar, Sameer; Hirawe, Deepti

2011-01-01

Ectopic thyroid tissue is an uncommon congenital aberration. It is extremely rare to have three ectopic foci at three different sites. The thyroid scan has been used successfully to diagnose ectopic thyroid tissue. We report a case of ectopic thyroid tissue at base of tongue, another at the level of hyoid and third one as aberrant tissue at suprahyoid location in a 16 year old female who presented with swelling in front of neck. This patient was clinically diagnosed as thyroglossal cyst and was being planned for surgery. Preoperative thyroid scan helped in establishing diagnosis of ectopic thyroid which was the only functioning thyroid tissue. Thus, it prevented unnecessary surgery. Therefore it is suggested that thyroid scan and USG/CT scan must be done as routine work up in neck swellings pre operatively to avoid unnecessary surgeries. PMID:23559716

Cutaneous plasmacytosis: A rare entity with unique presentation.

PubMed

Dhar, Subhra; Liani, Lalthleng; Patole, Kamlakar; Dhar, Sandipan

2017-01-01

Primary cutaneous plasmacytosis is a rare cutaneous disorder with extensive cutaneous plaques/papules mainly on the trunk and face. Cases have mostly been documented from Japan. We present here a rare case of cutaneous plasmacytosis from India of Mongolian descent. This 50-year-old female from Mizoram had extensive maculo-papular violaceous plaques distributed on the face, axillae, trunk and lower extremities. Initial and repeat skin biopsy revealed dense perivascular and periadnexal mature plasma cells. She also had lymphadenopathy. Serum protein electrophoresis did not reveal any M band and the Bence Jones protein was negative in urine. The patient had multiple superficial lymph nodes and a biopsy from the cervical lymph node showed effacement of normal nodal architecture by sheets of plasma cells. Immuno histochemistry was done from both skin and lymph node biopsies. The kappa and lambda tight chains were not restricted; there by proving the polyclonal nature of the plasma cells. The novelty of the case lies in its classical clinical presentation with histopathological documentation.

Urethral cavernous hemangioma in a female patient: a rare entity

PubMed Central

Bolat, Mustafa Suat; Yüzüncü, Kubilay; Akdeniz, Ekrem; Demirdoven, Ayse Nurten

2015-01-01

Genitourinary hemangiomas are rare entities of the urinary system. We reported a female patient who suffered dyspareunia and intermitant hematuria that was proved as urethral cavernous hemangioma. Despite its benign nature, hemangiomas may recur due to incomplet excision. PMID:26985270

Persistent L5 lumbosacral radiculopathy caused by lumbosacral trunk schwannoma

PubMed Central

Sharifi, Guive; Jahanbakhshi, Amin

2017-01-01

Schwannomais, usually, benign tumor of nerve sheath that occurs evenly along the spinal cord. Intra-pelvic schwannoma is very rare entity that may arise from lumbosacral nerve roots or from sciatic nerve. Radicular pain of the lower limb as a presenting symptom of pelvic schwannoma is extremely rare. In the current report, the patient is presented with a right sided L5 radicular pain typical of lumbar discopathy. Interestingly, a herniated lumbar disc was noted on lumbosacral magnetic resonance imaging (MRI). In pre-operative studies a large pelvic mass was detected in the right pre-sacral area with solid and cystic components consistent with schwannoma. The patient underwent a low midline laparotomy to evacuate the retroperitoneal mass. Uniquely, we found the tumor to be arisen from lumbosacral trunk not from a root or peripheral nerve. Most cases with intra-pelvic schwannoma present so late with vague abdominal and pelvic discomfort or pain, low back pain, urinary and bowel symptoms because of compressive effect of the tumor, or incidentally following gynecologic work-ups; So, these patients are mostly referred to gynecologists and urologists. A neurosurgeon should have a high degree of suspicion to diagnose such an entity among his or her patients presented with pains typical for discopathy. PMID:28413533

Uterine angioleiomyoma: a rare variant of uterine leiomyoma.

PubMed

Garg, Garima; Mohanty, Sambit K

2014-08-01

Uterine angioleiomyoma is an extremely rare and unique variant of leiomyoma. It usually occurs in middle-aged women, who commonly present with menorrhagia, abdominal pain, or abdominal mass. The lesions are either single or multiple and manifest as submucosal, intramural, or subserosal whorled nodules. Microscopy of the individual nodule shows interlacing fascicles of spindle cells swirling around thick-walled blood vessels. Angioleiomyoma usually lacks mitotic figures, pleomorphism, or necrosis, although cases with marked nuclear atypia and multinucleated giant cells have been reported. The tumor cells are immunoreactive for smooth muscle actin, desmin, h-caldesmon, and progesterone receptor, with a low Ki-67 labeling index. Because these lesions are vascular, they may undergo spontaneous rupture and pose a life-threatening emergency, especially in pregnancy. There are no specific imaging findings; therefore, a preoperative diagnosis is extremely difficult. It is important to recognize this entity and differentiate it from a malignancy, particularly when angioleiomyoma shows significant cytologic atypia or raised cancer antigen 125 levels by thorough sampling. When required, a proper immunohistochemical panel should be used to arrive at a correct diagnosis. In this review, we discuss the current knowledge on uterine angioleiomyoma and its clinical relevance.

Dissecting disease entities out of the broad spectrum of bipolar-disorders.

PubMed

Levine, Joseph; Toker, Lilach; Agam, Galila

2018-01-01

The etiopathology of bipolar disorders is yet unraveled and new avenues should be pursued. One such avenue may be based on the assumption that the bipolar broad spectrum includes, among others, an array of rare medical disease entities. Towards this aim we propose a dissecting approach based on a search for rare medical diseases with known etiopathology which also exhibit bipolar disorders symptomatology. We further suggest that the etiopathologic mechanisms underlying such rare medical diseases may also underlie a rare variant of bipolar disorder. Such an assumption may be further reinforced if both the rare medical disease and its bipolar clinical phenotype demonstrate a] a similar mode of inheritance (i.e, autosomal dominant); b] brain involvement; and c] data implicating that the etiopathological mechanisms underlying the rare diseases affect biological processes reported to be associated with bipolar disorders and their treatment. We exemplify our suggested approach by a rare case of autosomal dominant leucodystrophy, a disease entity exhibiting nuclear lamin B1 pathology also presenting bipolar symptomatology. Copyright © 2017 Elsevier B.V. All rights reserved.

Cytological Diagnosis of Primary Thyroid Tuberculosis.

PubMed

Goyal, P; Mittal, D; Ghosh, S; Agrawal, D; Sehgal, S; Singh, S

2015-01-01

Primary thyroid tuberculosis is an extremely rare disease, even in countries where other forms of tuberculosis are abundant. TT has no age bar but usually affects women in fourth and fifth decade. Hereby, we report a case of 16-years-old girl presented with complaint of progressively increasing, painful thyroid swelling. Diagnosis of TT was made on cytology and there was no evidence of involvement of any other organ by tuberculosis. Despite of its rarity, TT is usually misdiagnosed. So, a clinician should always consider this entity in the differential diagnosis of thyroid swelling. Fine needle aspiration cytology is the best diagnostic method and can result in the avoidance of unnecessary thyroid surgeries.

Congenital rickets presenting as refractory respiratory distress at birth.

PubMed

Tiwari, Soumya; Kumar, Rajesh; Singla, Shilpy; Dudeja, Ajay; Nangia, Sushma; Saili, Arvind

2014-08-01

Congenital rickets is a very rare entity in the spectrum of metabolic bone disease in children. The authors report an as yet unreported case of congenital rickets presenting with respiratory distress at birth. The radiographs of long bones and wrist showed generalized osteopenia with cupping and fraying of epiphyseal ends in the second week of life. The patient was managed with very high doses of vitamin D which led to clinico-radiological and biochemical improvement. More than being interesting for its extreme rarity, this report assumes importance as it brings forth the possibility of congenital rickets being a differential diagnosis for a newborn with respiratory distress.

Obstructive sleep apnea (OSA): a complication of acute infectious mononucleosis infection in a child.

PubMed

Cheng, Jeffrey

2014-03-01

Independently, obstructive sleep apnea (OSA) and infectious mononucleosis are not uncommon in the pediatric population, but acute onset of OSA, as a respiratory complication in the setting of acute EBV infection is extremely uncommon. Previous reports of this clinical entity are sparse and from nearly two decades ago. Urgent adenotonsillectomy was commonly advocated. This complication may be managed medically with systemic corticosteroids and non-invasive continuous positive airway pressure (CPAP), and a case is presented to highlight an updated management approach to this rarely encountered clinical problem in children. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

Stiff-person syndrome: a case report and review of the literature.

PubMed

Egwuonwu, Steve; Chedebeau, Fernando

2010-12-01

We report a case of stiff-person syndrome associated with several autoimmune diseases. A 49-year-old male with type 1 diabetes presented with a 6-month history of muscle rigidity and spasms of his upper and lower extremities. Anti-glutamic acid decarboxylase 65 antibody was elevated at 609 nmol/L. Electromyography revealed continuous motor unit activity in agonist and antagonist muscles. He responded favorably to diazepam, baclofen, and intravenous immunoglobulin infusions. This case report describes stiff-person syndrome in association with pernicious anemia and diabetes mellitus. A review of the literature discusses the diagnosis and treatment of this rare entity.

Pelvic confined idiopathic retroperitoneal fibrosis mimicking a large tumor.

PubMed

Salemis, N S; Tsiambas, E; Tsohataridis, E

2009-01-01

Idiopathic retroperitoneal fibrosis (IRF) entirely confined to the pelvic cavity is an extremely rare clinical entity. Herein, is described the case of a 36- year old male who presented with clinical and imaging manifestations of a large pelvic tumor. Exploratory laparotomy revealed a large mass in the right pelvis originating from the retroperitoneal space, displacing the right iliac vessels, the right ureter and the urinary bladder completely to the left. A laborious resection of the mass measuring 14 x 10cm was performed. Histopathological examination and detailed immunohistochemistry analysis were suggestive of idiopathic retroperitoneal fibrosis with no evidence of malignancy. This is a very rare case regarding localization and clinical presentation of idiopathic retroperitoneal fibrosis. We conclude that IRF should be included in the differential diagnosis of patients presenting with a pelvic mass even if there is no involvement of the typical para aortic area.

Recurrent Fever of Unknown Origin (FUO) Due to Periodic Fever, Aphthous Stomatititis, Pharyngitis and Adenitis (FAPA) Syndrome in an Adult.

PubMed

Muñoz-Gómez, Sigridh; Cunha, Burke A

2013-08-19

FAPA syndrome (periodic fever, aphthous stomatititis, pharyngitis and adenitis) is a relatively new entity described in pediatric patients. In adults, reports of FAPA are limited to rare case reports. The differential diagnosis of FAPA in adults includes Behcet's syndrome, familial Mediterranean fever (FMF), Hyper IgD syndrome and juvenile rheumatoid arthritis (JRA), i.e., adult Still's disease. With FAPA syndrome, between episodes patients are completely asymptomatic and serologic inflammatory markers such as erythrocyte sedimentation rate (ESR), C-reactive protein (CRP) and white blood cell (WBC) count are normal. The etiology of FAFA is unknown, but lack of secondary cases or clustering in close contacts, lack of seasonality, and the lack of progression for years argue against an infectious etiology. We describe an extremely rare case of an adult with a recurrent FUO with profuse night sweats and prominent chills due to FAPA syndrome.

Recurrent Fever of Unknown Origin (FUO) Due to Periodic Fever, Aphthous Stomatititis, Pharyngitis and Adenitis (FAPA) Syndrome in an Adult

PubMed Central

Muñoz-Gómez, Sigridh; Cunha, Burke A.

2013-01-01

FAPA syndrome (periodic fever, aphthous stomatititis, pharyngitis and adenitis) is a relatively new entity described in pediatric patients. In adults, reports of FAPA are limited to rare case reports. The differential diagnosis of FAPA in adults includes Behcet’s syndrome, familial Mediterranean fever (FMF), Hyper IgD syndrome and juvenile rheumatoid arthritis (JRA), i.e., adult Still’s disease. With FAPA syndrome, between episodes patients are completely asymptomatic and serologic inflammatory markers such as erythrocyte sedimentation rate (ESR), C-reactive protein (CRP) and white blood cell (WBC) count are normal. The etiology of FAFA is unknown, but lack of secondary cases or clustering in close contacts, lack of seasonality, and the lack of progression for years argue against an infectious etiology. We describe an extremely rare case of an adult with a recurrent FUO with profuse night sweats and prominent chills due to FAPA syndrome. PMID:26237061

Primary Vaginal Calculus in a Woman with Disability: Case Report and Literature Review.

PubMed

Castellan, Pietro; Nicolai, Michele; De Francesco, Piergustavo; Di Tizio, Luciano; Castellucci, Roberto; Bada, Maida; Marchioni, Michele; Cindolo, Luca; Schips, Luigi

2017-01-01

Background: Vaginal stones are rare and often unknown entities. Most urologists may never see a case in their careers. Case Presentation: We present the case of a 34-year-old bedridden Caucasian woman with mental and physical disabilities who presented with a large primary vaginal calculus, which, surprisingly, had remained undiagnosed until the patient suffered a right renal colic caused by a ureteral stone. The vagina was completely filled and a digital examination was not possible. For this reason, the stone was removed using surgical pliers with some maneuvering. A vesicovaginal fistula was excluded, as well as foreign bodies or other nidi of infection. After, urethral lithotripsy was performed as planned. The postoperative course and follow-up were uneventful. Conclusion: Although vaginal calculi are extremely rare in literature, their differential diagnosis should be considered in women with incontinence and associated disabilities, paraplegia, or prolonged immobilization in recumbent position.

Cushing's disease due to mixed pituitary adenoma-gangliocytoma of the posterior pituitary gland presenting with Aspergillus sp. sinus infection.

PubMed

Bridenstine, Mark; Kerr, Janice M; Lillehei, Kevin O; Kleinschmidt-DeMasters, Bette K

2013-01-01

Gangliocytic lesions of the pituitary gland producing Cushing's disease are extremely rare entities that may exist with or without a pituitary adenoma. The latter have been designated mixed pituitary adenoma-gangliocytomas, the majority of which produce growth hormone, not adrenocorticotropin (ACTH), and are localized to the anterior gland. We now report an immunocompetent woman with hypercortisolism who presented with an intranasal aspergilloma eroding the bony sellar floor. The fungal ball was contiguous with, and extended into, a large neurohypophyseal-centered mass. Transsphenoidal resection revealed a gangliocytic lesion of the posterior gland with small clusters of intimately admixed ACTH-immunoreactive adenoma cells as the cause of her Cushing's disease. Rare transitional sizes and shapes of cells coupled with immunohistochemical findings supported interpretation as advanced neuronal metaplasia within an ACTH adenoma. This mixed ACTH adenoma-gangliocytoma is the first example to present clinically with an opportunistic infection.

Phrenic Nerve Palsy as Initial Presentation of Large Retrosternal Goitre.

PubMed

Hakeem, Arsheed Hussain; Hakeem, Imtiyaz Hussain; Wani, Fozia Jeelani

2016-12-01

Unilateral phrenic nerve palsy as initial presentation of the retrosternal goitre is extremely rare event. This is a case report of a 57-year-old woman with history of cough and breathlessness of 3 months duration, unaware of the thyroid mass. She had large cervico-mediastinal goiter and chest radiograph revealed raised left sided hemidiaphragm. Chest CT scan did not reveal any lung parenchymal or mediastinal pathology. The patient underwent a total thyroidectomy through a cervical approach. The final pathology was in favor of multinodular goitre. Even after 1 year of follow up, phrenic nerve palsy did not improve indicating permanent damage. Phrenic nerve palsy as initial presentation of the retrosternal goitre is unusual event. This case is reported not only because of the rare nature of presentation, but also to make clinicians aware of the entity so that early intervention may prevent attendant morbidity.

Novel Development of Remitting Seronegative Symmetrical Synovitis with Pitting Edema (RS3PE) Syndrome due to Insulin Therapy.

PubMed

Mainali, Naba Raj; Schmidt, Torrey R; Alweis, Richard; George, David L

2014-01-01

Male, 67 FINAL DIAGNOSIS: Remitting seronegative symmetrical synovitis with pitting edema (RS3PE) syndrome Symptoms: Bilateral wrist swelling Medication: - Clinical Procedure: - Specialty: Rheumatology. Unusual or unexpected effect of treatment. Remitting seronegative symmetrical synovitis with pitting edema (RS3PE) syndrome is a rare clinical entity characterized by the sudden onset of inflammatory arthritis and marked pitting edema on upper and lower extremities. RS3PE is considered a rheumatic process distinct from rheumatoid arthritis, which may occasionally represent a paraneoplastic syndrome. Herein, we describe a rare case of RS3PE associated with insulin therapy in a patient with no evidence of underlying malignancy. To the best of our knowledge, this is the first case report of RS3PE associated with insulin therapy. Physicians should look at the introduction of drugs as possible triggers for the development of RS3PE.

Paecilomyces variotii peritonitis in a patient on continuous ambulatory peritoneal dialysis.

PubMed

Uzunoglu, E; Sahin, A M

2017-06-01

Paecilomyces variotii (P. variotii) is an extremely rare cause of continuous ambulatory peritoneal dialysis (CAPD) peritonitis. When diagnosed, it usually portends poor prognosis. Patient's survival depends on early laboratory diagnosis and proper treatment. We herein report a P. variotii peritonitis in a patient on CAPD which is a quite rare clinical entity. Laboratory diagnosis was confirmed via both morphological analysis and DNA sequencing. Antifungal susceptibility tests were performed and interpreted according to the Clinical Laboratory Standards Institute M38-A2 guidelines. After laboratory diagnosis, the patient was treated succesfully with liposomal amphotericin B and itraconazole combination and the peritoneal catheter was removed. This case is worthy of reporting since P. variotii is an uncommon cause of peritonitis and leads to dilemmas in both laboratory diagnosis and treatment strategies. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

Intracranial meningioma as primary presentation for an undiagnosed collision metastatic breast cancer: Case report and literature review

PubMed Central

Farrag, Ashraf; Ansari, Jawaher; Ali, Muhammad; Sunbuli, Ghanem; Kassem, Hassan; Al Hamad, Abdul-Aziz

2018-01-01

Intracranial metastasis from breast cancer is a relatively common finding, however, the appearance of breast cancer metastasis in a meningioma is very rare. Several cases of tumor-to-tumor metastasis and collision tumors have been reported previously, with meningioma being implicated as the most common benign intracranial neoplasm to harbour the metastasis. Occasionally, the discovery of a tumor-to-meningioma metastasis may herald the diagnosis of an occult primary malignancy. Careful histopathological assessment of the resected meningioma specimen is pivotal to the management of these patients, as this will alter the treatment plan and prognosis considerably. Intracranial meningioma with collision breast cancer as primary presentation of an undiagnosed metastatic breast cancer is extremely rare. The current study presents a case of intracranial meningioma with collision breast cancer as a primary presentation, and reviews the available evidence for this unusual disease entity. PMID:29725531

Intracranial meningioma as primary presentation for an undiagnosed collision metastatic breast cancer: Case report and literature review.

PubMed

Farrag, Ashraf; Ansari, Jawaher; Ali, Muhammad; Sunbuli, Ghanem; Kassem, Hassan; Al Hamad, Abdul-Aziz

2018-05-01

Intracranial metastasis from breast cancer is a relatively common finding, however, the appearance of breast cancer metastasis in a meningioma is very rare. Several cases of tumor-to-tumor metastasis and collision tumors have been reported previously, with meningioma being implicated as the most common benign intracranial neoplasm to harbour the metastasis. Occasionally, the discovery of a tumor-to-meningioma metastasis may herald the diagnosis of an occult primary malignancy. Careful histopathological assessment of the resected meningioma specimen is pivotal to the management of these patients, as this will alter the treatment plan and prognosis considerably. Intracranial meningioma with collision breast cancer as primary presentation of an undiagnosed metastatic breast cancer is extremely rare. The current study presents a case of intracranial meningioma with collision breast cancer as a primary presentation, and reviews the available evidence for this unusual disease entity.

Spontaneous dissecting aneurysm of the left atrium complicated by cerebral embolism: A report of two cases with review of literature.

PubMed

Mohan, Jagdish C; Shukla, Madhu; Mohan, Vishwas; Sethi, Arvind

2016-09-01

Left atrial dissection is a very uncommon complication of cardiac surgery and usually causes significant hemodynamic compromise. Little is known about spontaneous dissection of the left atrium. Two patients, one middle-aged man and another elderly woman were evaluated following stroke. Routine trans-thoracic echocardiogram showed vertical division of the left atrium with both chambers communicating with each other through an orifice. Detailed trans-oesophageal echocardiographic study revealed dissection of the left atrium producing an additional false chamber (pseudo-aneurysm) placed posterior to the left atrial appendage and above the postero-lateral aspect of mitral annulus. Spontaneous dissection of the left atrium is extremely rare, and there is no report of cerebral embolism associated with it. Review of literature reveals interesting facets of this rare entity. Copyright © 2015 Cardiological Society of India. Published by Elsevier B.V. All rights reserved.

Giant Hypopharyngeal Fibrovascular Polyp: A Case Report and Review of the Relevant Literature.

PubMed

Haytoglu, Suheyl; Tuhanioglu, Birgul; Bozkurttan, Abdurrahman; Arikan, Osman Kursat

2015-01-01

Fibrovascular polyps occur most commonly in the cervical esophagus and are extremely rare in the hypopharynx. In this paper, we report a case of fibrovascular polyp of a 52-year-old female, who presented with progressive dysphagia and weight loss and regurgitating a mass from her mouth. By the endoscopic examination, a polyp covered by normal mucosa with a wide stalk was detected at the hypopharynx. The pedicle of the mass was identified under general anesthesia and the 13 × 3 × 2 cm mass was completely resected perorally. Histopathological examination of the tumor showed oedematous subepithelial fibrous stroma, surrounded by squamous epithelium and containing many congested vascular structures. No recurrence was detected over one year of follow-up. This case highlights the need for clinicians to be aware of this rare entity and to develop the best approach to patient management.

Carpal Tunnel Syndrome

PubMed Central

Zimmerman, Gregory R.

1994-01-01

Carpal tunnel syndrome is a neuropathy resulting from compression of the median nerve as it passes through a narrow tunnel in the wrist on its way to the hand. The lack of precise objective and clinical tests, along with symptoms that are synonymous with other syndromes in the upper extremity, cause carpal tunnel syndrome to appear to be a rare entity in athletics. However, it should not be ruled out as a possible etiology of upper extremity paralysis in the athlete. More typically, carpal tunnel syndrome is the most common peripheral entrapment neuropathy encountered in industry. Treatment may include rest and/or splinting of the involved wrist, ice application, galvanic stimulation, or iontophoresis to reduce inflammation, and then transition to heat modalities and therapeutic exercises for developing flexibility, strength, and endurance. In addition, an ergonomic assessment should be conducted, resulting in modifications to accommodate the carpal tunnel syndrome patient. ImagesFig 3.Fig 4.Fig 5.Fig 6.Fig 7. PMID:16558255

Stabbing Yourself in the Heart: A Case of Autoimmunity Gone Awry

PubMed Central

Vigneswaran, Hari; Parikh, Leslie; Poppas, Athena

2015-01-01

Within internal medicine, cardiac and neurologic pathology comprises a vast majority of patient complaints. Physicians and advanced-care practitioners must be highly educated and comfortable in the evaluation, diagnosis, and management of these entities. Chest pain accounts for millions of annual visits to the emergency room with pericarditis diagnosed in approximately four percent of patients with nonischemic chest pain. Guillain-Barre Syndrome is autoimmune polyneuropathy that often results in transient paralysis. Simultaneous diagnosis of both entities is a rare but described phenomenon. Here, we present a clinical case of GBS associated pericarditis. A fifty-five-year-old man with history of renal transplant presented with lower extremity weakness and urinary incontinence. Physical exam and diagnostic studies confirmed Guillain-Barre Syndrome. Patient subsequently developed stabbing chest pain with clinical presentation and electrocardiogram consistent with pericarditis. The patient was successfully treated for both diseases. This case highlights that although infrequent, internal medicine care providers must be cognizant of this correlation to ensure timely diagnosis and treatment. PMID:26664359

Isolated unilateral temporalis muscle hypertrophy in a child: a case report with literature review.

PubMed

Ranasinghe, Jagath C; Wickramasinghe, Chandani; Rodrigo, Ganganath

2018-02-19

Temporalis muscle hypertrophy is a rare entity of masticatory muscle hypertrophy. All types of masticatory muscle hypertrophies have been documented of which temporalis muscle hypertrophy is one. Temporalis muscle hypertrophy is most commonly bilateral and usually associated with other types of masticatory muscles hypertrophy such as masseter or pterygoid hypertrophy. However, isolated unilateral temporalis muscle hypertrophy is extremely rare and only 9 cases have been reported to date in English literature since 1990 with only two patients less than 18 years. There is no exact etiology identified and the diagnosis is made by muscle biopsy combined with imaging study to exclude other possibilities. Age at presentation is ranges from 15 to 65 years with involvement of both sexes. We report the youngest child who is a seven year old girl with right side isolated unilateral temporalis muscle hypertrophy. In this patient, we discuss the youngest child with isolated unilateral temporalis muscle hypertrophy and literature review to date. The patient is a seven year old female presenting with painless swelling of the right temporalis muscle. There had no features of inflammation, trauma, neoplasm or history of parafunctions such as bruxism. The child was not complaining significantly headache or visual disturbances as well. She had undergone radiological assessment with ultrasound scan and contrast MRI. The diagnosis was confirmed by muscle biopsy which shows normal muscle architecture. She was managed conservatively with regular follow up. Isolated unilateral temporalis muscle hypertrophy is extremely rare in children. However this case raises the importance of considering alternative diagnoses despite the condition being rare in the pediatric population.

A Rare Entity: Bilateral First Rib Fractures Accompanying Bilateral Scapular Fractures.

PubMed

Gulbahar, Gultekin; Kaplan, Tevfik; Turker, Hasan Bozkurt; Gundogdu, Ahmet Gokhan; Han, Serdar

2015-01-01

First rib fractures are scarce due to their well-protected anatomic locations. Bilateral first rib fractures accompanying bilateral scapular fractures are very rare, although they may be together with scapular and clavicular fractures. According to our knowledge, no case of bilateral first rib fractures accompanying bilateral scapular fractures has been reported, so we herein discussed the diagnosis, treatment, and complications of bone fractures due to thoracic trauma in bias of this rare entity.

A Rare Entity: Bilateral First Rib Fractures Accompanying Bilateral Scapular Fractures

PubMed Central

Gulbahar, Gultekin; Kaplan, Tevfik; Turker, Hasan Bozkurt; Gundogdu, Ahmet Gokhan; Han, Serdar

2015-01-01

First rib fractures are scarce due to their well-protected anatomic locations. Bilateral first rib fractures accompanying bilateral scapular fractures are very rare, although they may be together with scapular and clavicular fractures. According to our knowledge, no case of bilateral first rib fractures accompanying bilateral scapular fractures has been reported, so we herein discussed the diagnosis, treatment, and complications of bone fractures due to thoracic trauma in bias of this rare entity. PMID:26175916

Breast abscess as the initial manifestation of primary pure squamous cell carcinoma: a rare presentation and literature review.

PubMed

Salemis, Nikolaos S

2011-01-01

Primary squamous cell carcinoma of the breast is a very rare tumor accounting for less than 0.4% of all breast cancers. Fewer than 100 cases have been reported in the literature so far. The diagnosis requires strict pathologic criteria to be fulfilled. Due to the rarity of this tumor the optimal treatment and prognosis are both unclear. Breast abscess as the initial presentation of a primary squamous cell breast carcinoma is an extremely rare clinical entity. In this study, we describe a case of a 61-year-old postmenopausal woman who presented with typical manifestations of a breast abscess and was diagnosed with a pure primary squamous cell breast carcinoma. Diagnostic evaluation and management of the patient are discussed along with a review of the literature. Despite its rarity, the possibility of a primary pure squamous cell breast carcinoma should always be considered in the differential diagnosis in postmenopausal patients presenting with manifestations of a breast abscess, especially in those who respond poorly to the initial treatment. Physicians should be aware of this rare malignancy in order to avoid delays in diagnosis and treatment.

Melorheostosis: a rare entity: a case report.

PubMed

Kherfani, Abdelhakim; Mahjoub, Hachem

2014-01-01

Melorheostosis is a rare entity belonging to the group of sclerotic bone dysplasias. Described for the first time in 1922 by Leri, it remains imperfectly known as clinical presentations are highly variable, and the etiological diagnosis is not fully elucidated. We report a case of polyostoticmelorheostosis for which radiological investigations were complete, in order to study this disease.

Melorheostosis: a rare entity: a case report

PubMed Central

Kherfani, Abdelhakim; Mahjoub, Hachem

2014-01-01

Melorheostosis is a rare entity belonging to the group of sclerotic bone dysplasias. Described for the first time in 1922 by Leri, it remains imperfectly known as clinical presentations are highly variable, and the etiological diagnosis is not fully elucidated. We report a case of polyostoticmelorheostosis for which radiological investigations were complete, in order to study this disease. PMID:25489356

Two rare entities in the same palate lesion: hyalinizing-type clear cell carcinoma and necrotizing sialometaplasia.

PubMed

Arpaci, Rabia Bozdoğan; Kara, Tuba; Porgali, Canan; Serinsoz, Ebru; Polat, Ayse; Vayisoglu, Yusuf; Ozcan, Cengiz

2014-05-01

Hyalinizing clear cell carcinoma is a low-grade malignant epithelial neoplasm of the salivary glands. The tumor has epithelial cells and lacks myoepithelial cells. Necrotizing sialometaplasia is a benign, self-limiting lesion of the salivary glands. The clinical and histologic features mimic those of mucoepidermoid carcinoma or squamous cell carcinoma. The importance of these entities are the rarity of both of them and their potential to be misdiagnosed as other lesions. Pathologists and clinicians should be aware of these entities to prevent misdiagnosis. This is the first clinical report of 2 rare and consecutive different entities of the same location on the hard palate to our knowledge.

The rare fluorinated natural products and biotechnological prospects for fluorine enzymology.

PubMed

Chan, K K Jason; O'Hagan, David

2012-01-01

Nature has hardly evolved a biochemistry of fluorine although there is a low-level occurrence of fluoroacetate found in selected tropical and subtropical plants. This compound, which is generally produced in low concentrations, has been identified in the plants due to its high toxicity, although to date the biosynthesis of fluoroacetate in plants remains unknown. After that, fluorinated entities in nature are extremely rare, and despite increasingly sophisticated screening and analytical methods applied to natural product extraction, it has been 25 years since the last bona fide fluorinated natural product was identified from an organism. This was the reported isolation of the antibiotic 4-fluorothreonine and the toxin fluoroacetate in 1986 from Streptomyces cattleya. This bacterium has proven amenable to biochemical investigation, the fluorination enzyme (fluorinase) has been isolated and characterized, and the biosynthetic pathway to these bacterial metabolites has been elucidated. Also the fluorinase gene has been cloned into a host bacterium (Salinispora tropica), and this has enabled the de novo production of a bioactive fluorinated metabolite from fluoride ion, by genetic engineering. Biotechnological manipulation of the fluorinase offers the prospects for the assembly of novel fluorinated metabolites by fermentation technology. This is particularly attractive, given the backdrop that about 15-20% of pharmaceuticals licensed each year (new chemical entities) contain a fluorine atom. Copyright © 2012 Elsevier Inc. All rights reserved.

Lichen planus hypertrophicus of the vulva - a rare entity.

PubMed

Job, Anupa Mary; Kaimal, Sowmya

2017-09-01

Vulvovaginal lichen planus is a type of chronic inflammatory dermatosis of the vulva, usually seen as a part of widespread lichen planus. The common clinical types of vulval lichen planus include papulosquamous, erosive and pigmented types. Hypertrophic lichen planus of the vulva is a rare entity. We report a case of hypertrophic lichen planus of the vulva which clinically simulated genital warts.

Ovarian hyperstimulation, hyperprolactinaemia and LH gonadotroph adenoma.

PubMed

Castelo-Branco, Camil; del Pino, Marta; Valladares, Esther

2009-08-01

This report considers a highly exceptional case of ovarian hyperstimulation syndrome due to a gonadotroph adenoma secreting LH in a 31-year-old patient who presented with amenorrhoea and galactorrhoea syndrome and a complex bilateral ovarian mass. Magnetic resonance imaging revealed a pituitary adenoma, and laboratory tests corroborated the hyperprolactinaemia without other hormonal pituitary abnormalities. Ovarian hyperstimulation syndrome due to a gonadotroph adenoma with normal gonadotrophins is extremely rare. Most of the described cases are caused by FSH adenomas. Due to the originality of the case, it was considered useful for understanding the management of this entity, and it is proposed that LH adenomas should also be considered in the differential diagnosis of patients with spontaneous ovarian hyperstimulation syndrome.

Cervicothoracic epidural hematoma in a toddler with miosis, ptosis, nonspecific symptoms, and no history of major trauma: case report.

PubMed

Root, Brandon K; Schartz, Derrek A; Calnan, Dan R; Hickey, William F; Bauer, David F

2018-06-01

Spinal epidural hematomas are uncommon in children. The diagnosis can be elusive as most cases present without a history of trauma, while symptoms can be atypical. We encountered a 35-month-old male presenting with nonspecific symptoms and no history of trauma. He later developed unilateral miosis and ptosis; MRI discovered a subacute cervicothoracic epidural which was promptly evacuated. The patient made an excellent recovery. We emphasize the frequent absence of identifiable trauma and the importance of thorough imaging when this entity is suspected. Miosis and ptosis, likely representing a partial Horner syndrome, is an extremely rare presentation, this being one of the only reported cases.

Serous Carcinoma of the Uterine Cervix, an Extremely Rare Aggressive Entity: A Literature Review.

PubMed

Jonska-Gmyrek, Joanna; Zolciak-Siwinska, Agnieszka; Gmyrek, Leszek; Michalski, Wojciech; Poniatowska, Grazyna; Fuksiewicz, Malgorzata; Wiechno, Pawel; Kucharz, Jakub; Kowalska, Maria; Kotowicz, Beata

2018-01-01

Serous carcinoma of the uterine cervix (USCC) is an extremely rare subtype. To establish the treatment strategy in patients with USCC is an important issue. MEDLINE (PubMed) was searched for all articles published after the first publication by Lurie et al. [Eur J Obstet Gynecol Reprod Biol 1991; 40: 79-81], reporting woman diagnosed with USCC. Because of limited numbers of studies on the topic of the study, we could not keep a restriction of eliminating smaller sample sizes. A search of PubMed demonstrated that 113 cases of USCC have been reported in the literature since the first publication. The current treatment modality adopted for early cervical cancer is hysterectomy with bilateral iliac-obturator lymphadenectomy and postoperative radiotherapy (RT) or radiochemotherapy (RT-CT) if risk factors for cervical carcinoma appear. The treatment strategy for locally advanced USCC is preoperative RT-CT or chemotherapy (CHTH) with the intention to treat the patient surgically. The treatment option for disseminated disease is CHTH with paclitaxel and carboplatin. Risk factors and a more advanced clinical stage of USCC have an impact on poor outcomes despite the use of standard treatment methods, adapted for cervical cancer. The outside-pelvic failures tend to seek effective systemic treatment. © 2018 S. Karger AG, Basel.

Cervical Fusion for Absent Pedicle Syndrome Manifesting with Myelopathy.

PubMed

Goodwin, C Rory; Desai, Atman; Khattab, Mohamed H; Elder, Benjamin D; Bydon, Ali; Wolinsky, Jean-Paul

2016-02-01

Absent congenital pedicle syndrome is a posterior arch defect characterized by numerous congenital and mechanical abnormalities that result from disconnection of the anterior and posterior columns of the spinal canal. Absent congenital pedicle syndrome is a rare anomaly that is most commonly diagnosed incidentally, after evaluation of minor trauma, or after complaints of chronic neck pain. We report a case of absent congenital pedicle syndrome in a patient who presented with myelopathy and lower extremity weakness and review the literature on the surgical management of this entity. A 32-year-old woman with a history of systemic lupus erythematosus presented to the Neurosurgery Service with progressive weakness in her upper and lower extremities, clonus, and hyperreflexia. Magnetic resonance imaging revealed congenital absence of the pedicles of C2, C3, C4, C5, and C6 with a congenitally narrow canal at C4-5. The patient underwent a staged anterior and posterior cervical decompression and fusion. She was placed in a halo after surgery; at the 1-year follow-up, she was ambulatory with demonstrated improvement in weakness and fusion of her cervical spine. Absent congenital pedicle syndrome is rare, and most reported cases were treated conservatively. Surgical management is reserved for patients with myelopathy or instability. Copyright © 2016 Elsevier Inc. All rights reserved.

Round ligament leiomyoma: a rare manifestation of a common entity.

PubMed

Deol, Madhvi; Arleo, Elizabeth Kagan

A 68-year-old woman with a history of multifocal uterine leiomyomas presented with left groin pain and was referred for cross-sectional imaging to assess for the presence of an inguinal hernia. In this patient, MRI demonstrated a round ligament leiomyoma encased in the proximal left inguinal canal. Leiomyomas are the most common benign gynecologic tumors, however round ligament leiomyomas are very rare. The purpose of this case report is to highlight a rare manifestation of a common entity. Copyright © 2016 Elsevier Inc. All rights reserved.

Role of Imaging and Cytogenetics in Evaluation of DiGeorge Syndrome - A Rare Entity in Clinical Practice.

PubMed

Ramachandran, Rajoo; Babu, Sellappan Rajamanickam; Ilanchezhian, Subramanian; Radhakrishnan, Prabhu Radhan

2015-01-01

DiGeorge syndrome is a congenital genetic disorder that affects the endocrine system, mainly the thymus and parathyroid glands. The syndrome produces different symptoms, which vary in severity and character between patients. It manifests with craniofacial dysmorphism and defects in the heart, parathyroid, and thymus. Patients can present with a palatal deformity and nasal speech. This rare entity is caused mainly due to deletion of chromosome 22q11.2. Radiographic evaluation of DiGeorge syndrome is necessary to define aberrant anatomy, evaluate central nervous system, craniofacial abnormalities, musculoskeletal system, and cardiothoracic contents. It also helps in planning surgical procedures and surgical reconstructions. We report a case of DiGeorge syndrome in a 4-month-old neonate and discuss the clinical, imaging, and cytogenetic findings that helped in the diagnosis of this rare entity.

Rare cancers in The Netherlands: a population-based study.

PubMed

van der Zwan, Jan M; van Dijk, Boukje A C; Visser, Otto; van Krieken, Han J H J M; Capocaccia, Riccardo; Siesling, Sabine

2018-07-01

The conventional definition for rare disease is based on prevalence. Because of differences in prognosis, a definition on the basis of incidence was deemed to be more appropriate for rare cancers. Within the European RARECARE project, a definition was introduced that defines cancers as rare when the crude incidence rate is less than six per 100 000 per year. In this study, we applied the RARECARE definition for rare cancer to the Netherlands; this to identify the usefulness of the definition in a single country and to provide more insight into the burden of rare cancers in the Netherlands. Data for 2004 through 2008 were extracted from the Netherlands Cancer Registry and classified according to the RARECARE entities (tumour groupings). Crude and European standardized incidence rates were calculated. Out of the 260 entities, 223 (86%) were rare according to the definition, accounting for 14 000 cancers (17% of all). Considerable fluctuations in crude rates over years were observed for the major group of cancers. Rare tumours in the Netherlands constituted 17% of all newly diagnosed tumours, but were divided over 223 different entities, indicating the challenge that faces clinicians. To make the definition of rare cancers better applicable, it should be refined by taking into consideration the sex-specific incidence for sex-specific cancer sites. Moreover, a mean incidence over 5 years will provide more solid insight into the burden, eliminating large fluctuations in time of most of the cancers.

A giant dumbbell shaped vesico-prostatic urethral calculus: a case report and review of literature.

PubMed

Prabhuswamy, Vinod Kumar; Tiwari, Rahul; Krishnamoorthy, Ramakrishnan

2013-01-01

Calculi in the urethra are an uncommon entity. Giant calculi in prostatic urethra are extremely rare. The decision about treatment strategy of calculi depends upon the size, shape, and position of the calculus and the status of the urethra. If the stone is large and immovable, it may be extracted via the perineal or the suprapubic approach. In most of the previous reported cases, giant calculi were extracted via the transvesical approach and external urethrotomy. A 38-year-old male patient presented with complaints of lower urinary tract symptoms. Further investigations showed a giant urethral calculus secondary to stricture of bulbo-membranous part of the urethra. Surgical removal of calculus was done via transvesical approach. Two calculi were found and extracted. One was a huge dumbbell calculus and the other was a smaller round calculus. This case was reported because of the rare size and the dumbbell nature of the stone. Giant urethral calculi are better managed by open surgery.

A Giant Dumbbell Shaped Vesico-Prostatic Urethral Calculus: A Case Report and Review of Literature

PubMed Central

Prabhuswamy, Vinod Kumar; Tiwari, Rahul; Krishnamoorthy, Ramakrishnan

2013-01-01

Calculi in the urethra are an uncommon entity. Giant calculi in prostatic urethra are extremely rare. The decision about treatment strategy of calculi depends upon the size, shape, and position of the calculus and the status of the urethra. If the stone is large and immovable, it may be extracted via the perineal or the suprapubic approach. In most of the previous reported cases, giant calculi were extracted via the transvesical approach and external urethrotomy. A 38-year-old male patient presented with complaints of lower urinary tract symptoms. Further investigations showed a giant urethral calculus secondary to stricture of bulbo-membranous part of the urethra. Surgical removal of calculus was done via transvesical approach. Two calculi were found and extracted. One was a huge dumbbell calculus and the other was a smaller round calculus. This case was reported because of the rare size and the dumbbell nature of the stone. Giant urethral calculi are better managed by open surgery. PMID:23762742

Thoracic spinal cord intramedullary aspergillus invasion and abscess.

PubMed

McCaslin, Addason F; Lall, Rishi R; Wong, Albert P; Lall, Rohan R; Sugrue, Patrick A; Koski, Tyler R

2015-02-01

Invasive central nervous system aspergillosis is a rare form of fungal infection that presents most commonly in immunocompromised individuals. There have been multiple previous reports of aspergillus vertebral osteomyelitis and spinal epidural aspergillus abscess; however to our knowledge there are no reports of intramedullary aspergillus infection. We present a 19-year-old woman with active acute lymphoblastic leukemia who presented with several weeks of fevers and bilateral lower extremity weakness. She was found to have an intramedullary aspergillus abscess at T12-L1 resulting from adjacent vertebral osteomyelitis and underwent surgical debridement with ultra-sound guided aspiration and aggressive intravenous voriconazole therapy. To our knowledge this is the first reported case of spinal aspergillosis invading the intramedullary cavity. Though rare, this entity should be included in the differential for immunocompromised patients presenting with fevers and neurologic deficit. Early recognition with aggressive neurosurgical intervention and antifungal therapy may improve outcomes in future cases. Copyright © 2014 Elsevier Ltd. All rights reserved.

Malignant perivascular epithelioid cell tumor (PEComa) of the femur: a case report and literature review.

PubMed

Lao, I Weng; Yu, Lin; Wang, Jian

2015-05-29

We describe a case of malignant perivascular epithelial cell tumor (PEComa) arising primarily in the distal left femur of a 47-year-old male. The patient presented with pain accompanied by progressive swelling of his left thigh. Computed tomography (CT) scan and magnetic resonance imaging (MRI) revealed an osteolytic lesion. Curettage of the lesion was reported as a clear cell tumor with recommendation for exclusion of a metastatic clear cell carcinoma. However, thorough examinations did not find any primary site elsewhere, apart from the presence of bilateral pulmonary metastases. Evaluation of the submitted H & E slides identified a malignant PEComa which was further confirmed by subsequent immunohistochemical study. The occurrence of PEComa as a primary bone lesion is extremely rare. We present here a malignant PEComa of the distal left femur, and summarize the clinicopathological characteristics of this rare entity with literature review. The virtual slide (s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/5729035221600545 .

Urothelial papilloma: a rare cause of gross haematuria in childhood.

PubMed

Ribeiro, Andreia; Pereira, Maria; Reis, Armando; Ferreira, Graça

2017-05-13

Bladder urothelial papilloma is extremely rare in the paediatric population. It usually presents as painless gross haematuria and its diagnosis implies a high index of suspicion as other causes of haematuria predominate in this age range. We describe a 9-year-old boy with two episodes of gross haematuria occurring 1 year apart with spontaneous resolution after 2 days. Bladder ultrasound revealed an endovesical papillary lesion of 24×24 mm suggestive of bladder tumour. The diagnosis was confirmed by histopathological examination of the specimen obtained by cystoscopy with transurethral resection. After 3 years of follow-up with ultrasound and cystoscopy, there are no signs of recurrence. Due to the low prevalence of urothelial papilloma, paediatric guidelines for appropriate management and follow-up are unavailable, making this a challenging entity. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

Novel Development of Remitting Seronegative Symmetrical Synovitis with Pitting Edema (RS3PE) Syndrome due to Insulin Therapy

PubMed Central

Mainali, Naba Raj; Schmidt, Torrey R.; Alweis, Richard; George, David L.

2014-01-01

Patient: Male, 67 Final Diagnosis: Remitting seronegative symmetrical synovitis with pitting edema (RS3PE) syndrome Symptoms: Bilateral wrist swelling Medication: — Clinical Procedure: — Specialty: Rheumatology Objective: Unusual or unexpected effect of treatment Background: Remitting seronegative symmetrical synovitis with pitting edema (RS3PE) syndrome is a rare clinical entity characterized by the sudden onset of inflammatory arthritis and marked pitting edema on upper and lower extremities. RS3PE is considered a rheumatic process distinct from rheumatoid arthritis, which may occasionally represent a paraneoplastic syndrome. Case Report: Herein, we describe a rare case of RS3PE associated with insulin therapy in a patient with no evidence of underlying malignancy. Conclusions: To the best of our knowledge, this is the first case report of RS3PE associated with insulin therapy. Physicians should look at the introduction of drugs as possible triggers for the development of RS3PE. PMID:24696753

ESWR1-CREM Fusion in an Intracranial Myxoid Angiomatoid Fibrous Histiocytoma-Like Tumor: A Case Report and Literature Review.

PubMed

Gareton, Albane; Pierron, Gaëlle; Mokhtari, Karima; Tran, Suzanne; Tauziède-Espariat, Arnault; Pallud, Johan; Louvel, Guillaume; Meary, Eric; Capelle, Laurent; Chrétien, Fabrice; Varlet, Pascale

2018-05-19

Gene fusions of EWSR1 with members of the CREB family of transcription factors (CREB1, ATF1, and CREM) have recently been described in exceptional intracranial myxoid mesenchymal tumors. Although this is a known gene fusion found in various mesenchymal tumors, EWSR1 fusion with CREM has only been observed in 3 intracranial myxoid tumors. In this paper, we present 1 such tumor with in-depth histopathological description and long-term follow-up. There is controversy regarding whether these tumors represent a novel entity or simply an intracranial localization of the myxoid variant of angiomatoid fibrous histiocytoma, a rare soft tissue tumor of the extremities. Out of 11 cases mentioned in the literature, the 3 isolated case reports by Dunham et al, Ochalski et al, and Alshareef et al are designated as angiomatoid fibrous histiocytoma, whereas the others are defined as a novel tumoral entity called intracranial myxoid mesenchymal tumor with EWSR1-CREB fusion. We believe the vast morphological and immunohistochemical spectrum of angiomatoid fibrous histiocytoma makes it difficult to dismiss this diagnosis.

Recurrence of inflammatory pseudotumor in the distal bile duct: Lessons learned from a single case and reported cases

PubMed Central

Fernández, EM López-Tomassetti; Luis, H Díaz; Malagón, A Martín; González, I Arteaga; Pallarés, A Carrillo

2006-01-01

Inflammatory myofibroblastic tumors (IMTs) or inflammatory pseudotumors (IPs) have been extensively discussed in the literature. They are usually found in the lung and upper respiratory tract. However, reporting of cases involving the biliopancreatic region has increased over recent years. Immunohistochemical study of these lesions limited to the pancreatic head or distal bile duct seems to be compatible with those observed in a new entity called autoimmune pancreatitis, but usually intense fibrotic reaction (zonation) predominates producing a mass. When this condition is limited to the pancreatic head, the common bile duct might be involved by the inflammatory process and jaundice may occur often resembling adenocarcinoma of the pancreas. We have previously reported a case of IMT arising from the bile duct associated with autoimmune pancreatitis which is an extremely rare entity. Four years after Kaush-Whipple resection, radiological examination on routine follow-up revealed a tumor mass, suggesting local recurrence. Ultrasound-guided FNA confirmed our suspicious diagnosis. This present case, as others, suggests that persistent follow-up is necessary in order to prevent irreversible liver damage at this specific location. PMID:16804988

Mycobacterium tuberculosis infection within parotid gland Warthin tumor.

PubMed

Ozcan, Cengiz; Apa, Duygu Düşmez; Aslan, Gönül; Gülhan, Stk; Görür, Kemal

2008-11-01

Tuberculosis of the parotid gland is extremely unusual. Tuberculosis comprises 2.5% to 10% of parotid gland lesions. Two clinical forms of parotid gland tuberculosis infection exist. One is a diffuse parenchymatous disease (either primary or secondary to nodal disease), resembling common infection. The second is a chronic, slow-growing, painless, and firm parotid mass mimicking a neoplasm. Most of these patients were diagnosed after parotid gland surgery and histopathologic evaluation. Warthin tumor is a well-known benign neoplasm of the salivary glands. It is the second most common tumor of the parotid gland. Mycobacterium tuberculosis within Warthin tumor is also unusual. Five cases with parotid gland tuberculosis within Warthin tumor were reported in the literature. In this report, we present a new patient with parotid gland tuberculosis within the Warthin tumor. This type parotid gland pathology is an extremely rare entity, and to the best of our knowledge, this is the second documented case using polymerase chain reaction. We also discussed the possible mechanisms of development of infection within Warthin tumor.

A case of extraskeletal Ewing sarcoma originating from the visceral pleura.

PubMed

Karatziou, C; Pitta, X; Stergiouda, T; Karadimou, V; Termentzis, G

2011-10-01

Extra skeletal Ewing Sarcoma (EES) is a rare entity which predominantly occurs in adolescents and young adults. It usually arises from the soft tissues of the trunk or the extremities. We present a case of EES arising from the left visceral pleura in a 21 year old female patient who presented to the emergency room of our institution with fever, productive cough and sternal pain radiating to the back for the last 3 days. Chest radiograph was firstly performed, followed by chest CT examination. Finally open lung biopsy revealed a small round cell malignancy. The mass was resected and the histological examination revealed Extra skeletal Ewing Sarcoma (EES) of the visceral pleura without involvement of the adjacent lung. Secondary multiple nodules at the lateral wall of the pleura were also noticed and so postoperative multiagent chemotherapy was performed. EES should be considered in the differential diagnosis of any patient, especially adolescents or young adults, with a soft tissue mass of the trunk or the extremities.

A case of extraskeletal Ewing sarcoma originating from the visceral pleura

PubMed Central

Karatziou, C; Pitta, X; Stergiouda, T; Karadimou, V; Termentzis, G

2011-01-01

Extra skeletal Ewing Sarcoma (EES) is a rare entity which predominantly occurs in adolescents and young adults. It usually arises from the soft tissues of the trunk or the extremities. We present a case of EES arising from the left visceral pleura in a 21 year old female patient who presented to the emergency room of our institution with fever, productive cough and sternal pain radiating to the back for the last 3 days. Chest radiograph was firstly performed, followed by chest CT examination. Finally open lung biopsy revealed a small round cell malignancy. The mass was resected and the histological examination revealed Extra skeletal Ewing Sarcoma (EES) of the visceral pleura without involvement of the adjacent lung. Secondary multiple nodules at the lateral wall of the pleura were also noticed and so postoperative multiagent chemotherapy was performed. EES should be considered in the differential diagnosis of any patient, especially adolescents or young adults, with a soft tissue mass of the trunk or the extremities. PMID:24391423

Mesothelial cyst in the liver round ligament: A case report and review of the literature.

PubMed

Feo, Claudio F; Ginesu, Giorgio C; Cherchi, Giuseppe; Fancellu, Alessandro; Cossu, M Laura; Porcu, Alberto

2017-01-01

Cysts of the liver round ligament are rare and they are benign in the majority of cases. Current literature has been reviewed on this subject. A 22-year-old woman with a history of epigastric pain was admitted at our institution. Computed tomography (CT) of the abdomen showed a 14-mm cystic lesion in the epigastrium. A large cyst of the liver round ligament was successfully removed during exploratory laparoscopy and histopathology revealed a benign mesothelial cyst. Mesothelial cysts of the liver round ligament are rare entities and we found a total of 5 cases from the literature. Diameter varies from 5 to 14cm. Most patients were asymptomatic or may complain abdominal pain in the upper quadrants. Ultrasonography and CT scan are the most useful diagnostic tools, however differential diagnosis between various abdominal cystic lesions can be difficult. Treatment is usually surgical excision. Mesothelial cysts of the liver round ligament are extremely rare but should be taken in consideration in the differential diagnosis of intra-abdominal cystic lesions. We stress the importance of exploratory laparoscopy that can allow both diagnosis and radical surgical excision. Copyright © 2017 The Author(s). Published by Elsevier Ltd.. All rights reserved.

Extraventricular Neurocytoma in the Left Frontal Lobe: A Case Report and Literature Review.

PubMed

Chen, Fan; Jin, Rihua; Wu, Xinmin; Dong, Zengping; Chen, Dawei

2018-04-01

Neurocytoma is a rare brain neoplasm of neuroepithelial origin that occurs predominantly in the ventricular system adjacent to the interventricular foramen and septum pellucidum. However, extraventricular neurocytoma is an extremely rare entity, with poor clinical, radiologic, and histopathological characterization. Here we report a case of an extraventricular parafalcine neurocytoma in the left frontal lobe. We also examine previously reported cases of extraventricular neurocytoma in an attempt to provide an up-to-date summary of the condition. A literature search was performed using PubMed with specific key terms, inclusion criteria, and exclusion criteria. Selected case studies and case series were then compared, and statistical analyses were performed where appropriate. We report a 59-year-old woman presenting with weakness in her right leg and urinary incontinence. Physical examination revealed muscle strength of grade 3/5 in the right lower extremity. Brain magnetic resonance imaging showed a parafalcine mass in the left frontal lobe, with perilesional edema; the cerebral falx and lateral ventricle were shifted due to the compression. Gross total resection was performed. Histopathological examination revealed a neurocytoma. Immunohistochemical staining showed diffuse positivity for synaptophysin. MIB-1 staining for Ki-67 antibody showed a labeling index of 20%. No adjuvant radiation or chemotherapy was administered. Brain computed tomography performed at a 3-month follow-up showed no signs of recurrence. Extraventricular neurocytoma occurring in the brain parenchyma is a very rare central nervous system tumor. Its clinical and radiologic manifestations are nonspecific. The diagnosis depends on histopathological and immunohistochemical examination. Surgical resection should be the first-choice treatment. Copyright © 2018 Elsevier Inc. All rights reserved.

An unusual cause of headache: Pott's puffy tumour.

PubMed

McDermott, Cian; O'Sullivan, Ronan; McMahon, Geraldine

2007-06-01

Osteomyelitis of the frontal bone (eponymously known as Pott's puffy tumour) is an extremely rare and potentially life-threatening complication of frontal sinusitis. The entity was first described by Sir Percival Pott, an 18th century neurosurgeon. It is today considered a historical vignette with the introduction of modern antimicrobial agents. Early diagnosis and immediate active treatment are necessary to prevent severe neurologic sequelae. We report on a case of Pott's puffy tumour in a previously healthy young man with a progressively worsening headache and swelling of the frontal bone. Computed tomography and magnetic resonance imaging revealed features characteristic of this condition. Following emergency sinus trephination and 6 weeks of parenteral and enteral antibiotic therapy, the patient achieved a complete recovery.

Periductal Stromal Tumor of the Breast: A Case Report and Review of the Literature

PubMed Central

Askan, Gökçe; Arıbal, Erkin; Ak, Gamze; Kaya, Handan

2016-01-01

We present a woman aged 50 years who underwent a Tru-cut biopsy for a BI-RADS 4 lesion on her right breast and received a histopathology diagnosis of a fibroadenoma. In her one year follow-up, the lesion had progressed and she underwent an excisional biopsy. Her final diagnosis was a periductal stromal tumor. Periductal stromal tumor is an extremely rare and different entity from phylloides tumor, which makes appropriate diagnosis difficult in Tru-cut biopsy and care should be taken. Lesion progression of should require a re-biopsy. Their tendency to recur warrants follow-up. We believe that radiologic, pathologic, and clinical correlation is key in decision-making and diagnosis of these tumors. PMID:28331749

Massive ovarian oedema: a misleading clinical entity.

PubMed

Machairiotis, Nikolaos; Stylianaki, Aikaterini; Kouroutou, Paraskevi; Sarli, Polixeni; Alexiou, Nikolaos Konstantinos; Efthymiou, Elias; Maras, Athanasios; Alexiou, Nikolaos Georgios; Nikolaou, Spyridon Evaggelos; Courcoutsakis, Nikolaos; Papakonstantinou, Eleni; Zarogoulidis, Paul; Barbetakis, Nikolaos; Paliouras, Dimitrios; Gogakos, Apostolos; Machairiotis, Christodoulos

2016-02-03

Massive ovarian oedema is a rare non-neoplastic clinicopathologic entity has a higher incidence in women during their second and third life decade. The oedema can be presented in one or both ovaries as a result of partial intermittent torsion of the ovarian pedicle that interferes to the venal and lymphatic drainage of the ovary. We present a clinical case of a 16 year old with massive ovarian oedema and we performed a review of the literature. The pathophysiology of this entity is very complex. We tried to perform a complete review of the literature and focus on the complexity of this entity as far as its pathophysiological backround is concerned and as far as its clinical presentation is concerned. In conclusion, massive ovarian oedema is a rare, multi disease mimicking clinical entity, with an acute or progressive clinical presentation. It has also to be a part of our differential diagnosis in cases of acute abdominal pain and we have to try to treat her conservatively, in order to preserve fertility.

Liposarcoma of Hypopharynx and Esophagus: a Unique Entity?

PubMed

Riva, Giuseppe; Sensini, Matteo; Corvino, Andrea; Garzaro, Massimiliano; Pecorari, Giancarlo

2016-06-01

Liposarcoma is the most common soft tissue sarcoma in adults. It represents approximately 20 % of all mesenchymal malignancies. It most frequently involves retroperitoneum, trunk, and extremities. Hypopharyngeal and esophageal localization of liposarcoma is extremely rare. We performed a systematic review of literature and reported 26 and 33 cases of hypopharyngeal and esophageal liposarcoma. We analyzed natural history, imaging features, histology, treatment, and prognosis, with a specific focus to similarities and differences between tumors of hypopharynx and esophagus. Hypopharyngeal and esophageal liposarcomas have more similarities than differences. Incidence has a peak at 6th and 7th decades. The diagnostic procedures are barium swallow, endoscopic examination, and CT/MR imaging. Well-differentiated liposarcoma represents the most frequent histological subtype. Surgical excision is the main treatment. Endoscopic resection can be useful for pedunculated tumors of hypopharynx and cervical esophagus. Differences between hypopharyngeal and esophageal liposarcoma are represented by local recurrence rate (greater for hypopharyngeal tumors), number of giant tumors, and time to recurrence (greater for esophageal tumors). Finally, liposarcomas of distal esophagus need more extended approaches. Liposarcomas of hypopharynx and cervical esophagus could be considered a unique pathological entity, with similar features and treatment options. Survival rate is dependent on histological type and location. Local recurrence is common, especially for hypopharyngeal liposarcoma, while the risk of lymph node or distant metastasis is very low. Patients should undergo regular examinations to rule out local recurrence, also for a long time, especially for esophageal tumors.

40 CFR 80.560 - How can a refiner seek temporary relief from the requirements of this subpart in case of extreme...

Code of Federal Regulations, 2010 CFR

2010-07-01

... for NRLM diesel fuel; (2) Bond rating of entity that owns the refinery (in the case of joint ventures, include the bond rating of the joint venture entity and the bond ratings of all partners; in the case of... relief from the requirements of this subpart in case of extreme hardship circumstances? 80.560 Section 80...

Primary extraskeletal myxoid chondrosarcoma of bone: Report of three cases and review of the literature.

PubMed

Finos, L; Righi, A; Frisoni, T; Gambarotti, M; Ghinelli, C; Benini, S; Vanel, D; Picci, P

2017-05-01

Extraskeletal myxoid chondrosarcoma is a rare neoplasm of soft tissue. The usual location is in deep parts of the proximal extremities and limb girdles in middle-aged adults. The bone location as primary location is extremely rare and few cases are reported. We present three cases arising in bone with molecular confirmation using both RT-PCR and FISH analysis. Patients include two men and one woman with an age of 62, 69 and 73 years old. The mean size of the lesion was 13cm (range 8-18cm). Tumors arose in the iliac bone in two cases and in the proximal humerus in the other case. At time of diagnosis the three cases show bone cortex and soft tissue involvement. On imaging, lesions have a lobular pattern, are purely lytic, but take up contrast medium after injection. Two patients are alive with disease (local recurrence and lung metastasis) after five years and five years and six months, respectively and one patient died of disease two years after the diagnosis. The primary extraskeletal myxoid chondrosarcoma of bone seems to have a more aggressive behavior than the soft tissue counterpart. The molecular confirmation of diagnosis using RT-PCR is necessary to do the differential diagnosis with other entities, in particular with myoepithelioma that shows similar morphological features and EWSR1 and FUS genes rearrangement. Copyright © 2017 Elsevier GmbH. All rights reserved.

Cutaneous metastasis of transitional cell bladder carcinoma: a rare presentation and literature review.

PubMed

Salemis, Nikolaos S; Gakis, Christos; Zografidis, Andreas; Gourgiotis, Stavros

2011-01-01

Cutaneous metastasis from transitional cell bladder carcinoma is a rare clinical entity associated with poor prognosis. We present a case of cutaneous metastasis arising from a transitional cell bladder carcinoma in a male patient who had undergone a radical cystectomy and bilateral ureterostomy 17 months previously. The cutaneous metastasis became evident 3 months before the manifestations of generalized recurrent disease. An awareness of this rare clinical entity and high index of suspicion is needed to rule out metastatic spread in patients with a previous history of transitional cell bladder carcinoma presenting with cutaneous nodules. Definitive diagnosis requires a histological confirmation, but prognosis is generally poor.

Herpes zoster infection: a rare cause of acute urinary retention.

PubMed

Chan, Jonathan E; Kapoor, Anil

2003-06-01

Herpes zoster (HZ) infection has been reported as a rare cause of acute urinary retention. HZ infection involving sacral, thoracolumbar, and rarely high thoracic dermatomes is believed to occasionally cause motor and sensory neuropathy of the bladder. This is specifically achieved by the interruption of the detrusor reflex causing subsequent bladder atonia. As the course and management of this entity is quite benign, HZ should remain a diagnostic consideration in the management of urinary retention. We report a case of acute urinary retention of approximately 2.5 liters associated with HZ infection and review the proposed pathogenesis and therapeutic considerations in the management of this entity.

Persistent Mullerian Duct Syndrome: a rare entity with a rare presentation in need of multidisciplinary management.

PubMed

Da Aw, Lin; Zain, Murizah M; Esteves, Sandro C; Humaidan, Peter

2016-01-01

A typical male looking adolescent with a legal female gender assignment presented with haematuria. Investigations led to the diagnosis of Persistent Mullerian Duct Syndrome. The condition is indeed a rare entity that needs a multidisciplinar team management. Case hypothesis: A case of Persistent Mullerian Duct Syndrome undiagnosed at birth because karyotyping was defaulted, thus resulting in a significant impact on the legal gender assignment and psychosocial aspects. Promising future implications: The reporting of this case is important to create awareness due to its rarity coupled with the rare presentation with hematuria as a possible masquerade to menstruation. There were not only medical implications, but also psychosocial and legal connotations requiring a holistic multidisciplinary management. Copyright® by the International Brazilian Journal of Urology.

Cyto-histological correlation of Xp11.2 translocation/TFE3 gene fusion associated renal cell carcinoma: Report of a case with review of literature.

PubMed

Manucha, Varsha; Sessums, Mary T; Lewin, Jack; Akhtar, Israh

2018-03-01

The MiT family translocation renal cell carcinomas (RCCs) are relatively rare in comparison to the conventional RCC. The cytologic features overlap with conventional clear cell RCC and papillary RCCs, thereby making the diagnosis extremely challenging. Here, we describe a case of TFE3 translocation associated RCC in a 58-year-old patient, with emphasis on cytomorphologic features and clues toward this diagnostic entity. Correlating the cytohistologic findings and review of touch imprints revealed that presence of hyaline nodules resembling leisegang rings and psammoma bodies in cytologic smears from kidney tumors serve as an important clue in raising a suspicion for the diagnosis of MiT family translocation RCCs. © 2017 Wiley Periodicals, Inc.

Case Report: Bilateral reexpansion pulmonary edema following treatment of a unilateral hemothorax

PubMed Central

de Wolf, Steven P; Deunk, Jaap; Cornet, Alexander D; Elbers, Paul WG

2014-01-01

Bilateral re-expansion pulmonary edema (RPE) is an extremely rare entity. We report the unique case of bilateral RPE following a traumatic, unilateral hemopneumothorax in a young healthy male. Bilateral RPE occurred only one hour after drainage of a unilateral hemopneumothorax. The patient was treated with diuretics and supplemental oxygen. Diagnosis was confirmed by excluding other causes, using laboratory findings, chest radiography, pulmonary and cardiac ultrasound and high resolution computed tomography. His recovery was uneventful. The pathophysiology of bilateral RPE is not well known. Treatment is mainly supportive and consists of diuretics, mechanical ventilation, inotropes and steroids. In case of a pulmonary deterioration after the drainage of a traumatic pneumothorax, bilateral RPE should be considered after exclusion of more common causes of dyspnea. PMID:25713699

IgG4-related mastitis, a rare disease, can radiologically and histologically mimic malignancy.

PubMed

Yamada, Rin; Horiguchi, Shin-ichiro; Yamashita, Toshinari; Kamisawa, Terumi

2016-03-23

IgG4-related disease (IgG4-RD) is characterised by high serum concentrations of IgG4, dense lymphoplasmacytic infiltrates, storiform fibrosis and increased IgG4-positive plasma cells in tissues. This systemic disease occurs in various organs metachronously, but IgG4-related mastitis appears extremely rare. We report a case of IgG4-related mastitis, radiologically considered to represent breast cancer mainly composed of intraductal component and requiring histological differentiation from mucosa-associated lymphoid tissue (MALT) lymphoma. The breast mass disappeared with steroid therapy. When patients have a breast mass, regardless of the presence or absence of IgG4-RD, IgG4-related mastitis should be considered in addition to breast cancer. If histological findings show dense lymphoplasmacytic infiltrates, IgG4-related mastitis should be suspected in addition to malignant lymphoma, and lack of monoclonality should be confirmed. To avoid unnecessary surgery or chemotherapy, knowledge and accurate diagnosis of the entity of IgG4-related mastitis is necessary. 2016 BMJ Publishing Group Ltd.

Maxillary haemangiopericytoma: a case report.

PubMed

Fatusi, O A; Owotade, F J; Ojo, O S

2004-01-01

Haemangiopericytoma is a very rare slow-growing vascular tumour with a variable malignant potential, constituting less than 1% of all neoplasms. It may arise from any blood vessel and in any organ of the body. Primary haemangiopericytoma of bone is even rarer, constituting about 0.1% of bone tumours. The tumour is extremely rare in Africans and particularly in the head and neck region. We describe the case of a 66-year old Nigerian with haemangiopericytoma of the maxilla, who presented with a recurrent but painless jaw mass. Surgical resection of this tumour is potentially bedevilled with the risk of torrential haemorrhage and high rate of recurrence. This risk may be substantially reduced by wide surgical resection with a careful microscopical examination of the resection margins and the institution of adjuvant radiotherapy in incompletely resected tumours. Chemotherapy has no known role in the management of haemangiopericytoma. Postoperative radiation therapy appears to be effective against tumour recurrence. Even then, long-term follow-up is essential in all cases. To our knowledge, this is the first report of this entity in an African.

Skeletal muscle metastasis from breast cancer: management and literature review.

PubMed

Salemis, Nikolaos S

2015-01-01

Skeletal muscle metastasis from breast cancer is a very rare clinical entity. We describe an extremely rare case of breast cancer metastasis to the rectus abdominis muscle. Our patient, who had undergone a left modified radical mastectomy for breast cancer four years ago, presented with a painful abdominal mass. Computed tomography scans showed a rim-enhancing mass with central hypoatennuation within the sheath of the rectus abdominis muscle. A Fine needle aspiration biopsy was initially performed and the findings were suggestive of malignancy. The muscle lesion was then resected and the histopathological analysis showed metastasis of breast cancer. Through our review of the literature, we found that only two cases of rectus abdominis muscle metastasis from breast cancer have been reported so far. This case highlights the need to rule out muscle metastatic lesions in patients with history of breast cancer presenting with these clinical and imaging characteristics. Differentiation from primary sarcoma is of paramount importance. Skeletal muscle metastases usually indicate an advanced disease associated with poor prognosis. Treatment should be individualized depending on the patient's clinical condition.

Fat-forming Solitary Fibrous Tumor of the Kidney - A Case Report and Literature Review.

PubMed

Bacalbasa, Nicolae; Balescu, Irina; Jinescu, George; Marcu, Madalina; Contolenco, Andreea; Pop, Doina; Dobritoiu, Dragos; Ionescu, Olivia; Ionescu, Paris; Stoica, Claudia

2018-01-01

Fat-forming solitary fibrous tumors arising from the kidney are extremely rare, with only few cases reported so far. We report the case of a 49-year-old patient investigated for lumbar pain and diagnosed preoperatively with a large retroperitoneal tumor destroying the right kidney. The patient was submitted to surgery, the tumor being resected en bloc with right nephrectomy. The histopathological studies demonstrated the presence of a hemangiopericytoma-like tumor with adipocytary component; the immunohistochemical studies demonstrated the presence of cluster of differentiation 34 (CD34), while human melanoma black (HMB45) staining was negative. Therefore, the diagnostic of fat-forming solitary fibrous tumor of the kidney was established. The postoperative outcome was uneventful, the patient being discharged on the sixth postoperative day. In conclusion, although fat-forming solitary fibrous tumor of the kidney is a very rare entity, this diagnosis should be taken into consideration whenever a large retroperitoneal mass with high adipose content and renal invasion is described at the preoperative studies. Copyright© 2018, International Institute of Anticancer Research (Dr. George J. Delinasios), All rights reserved.

Forearm and hand arteries’ aneurysms – a case report of bilateral true ulnar artery aneurysm in the hypothenar eminence and systematic review of the literature.

PubMed

De Santis, F; Martini, G; Mani, G; Zywica, M; Zipponi, D

2013-06-01

Arterial aneurysms in the forearm, wrist and hand are relatively uncommon. Penetrating injuries, arterial traumas, infections and repetitive microtraumas represent the most frequent cause of these secondary aneurysms or pseudo-aneurysms, while true nontraumaticor infective peripheral aneurysms of the upper extremities are very rarely encountered. Over the last 20 years these have been reported only sporadically, both in adults and children. We describe a case of bilateral true idiopathic saccular artery aneurysms in the hypothenar eminence, treated with excision and arterial continuity restoration by primary end-to-end anastomosis on the left side and conservatively on the right. To our knowledge, no other similar case has been documented to date. Starting from this original case we conducted a systematic review of the literature via PubMed search on peripheral aneurysms of the forearm and hand arteries from 1933 to the present, including specifically true distal ulnar and radial artery aneurysms. Etiology, clinical characteristics and management of these rare pathological entities are extensively discussed.

Calcified Mass on Brain CT in a Teenager with Refractory Seizures.

PubMed

Khalatbari, Mahmoud Reza; Brunetti, Enrico; Shobeiri, Elham; Moharamzad, Yashar

2014-12-01

Cerebral echinococcosis is very rare, representing 2% of all cystic echinococcosis (CE) cases. Primary echinococcal cysts of the brain are extremely rare in pediatric patients. We report on a 16-year-old boy referred to our tertiary center with intractable epilepsy for the previous three years despite receiving full doses of three antiepileptic medications. Brain computed tomography (CT) showed a left frontal calcified mass. Magnetic resonance imaging (MRI) of the brain revealed a well-defined spherical mass in the left frontal lobe, slightly hypointense on T1-weighted and heterogeneous hyperintense on T2-weighted images with no contrast enhancement. With a broad differential list in mind, a surgical intervention was planned. During surgery, a primary calcified cerebral echinococcal cyst with severe adhesion to the adjacent dura of the frontal region was discovered and removed intact. Histopathology examination confirmed the diagnosis. Only phenobarbital was continued and no medical therapy for CE was administered. Two years after surgery, the patient remained free of seizures. In areas endemic for CE, cerebral echinococcal cyst should be included in the differential list of patients with intractable seizures. Though rare, this entity can present itself as a calcified mass on neuroimaging. Surgical removal of the calcified cyst is necessary for control and treatment of the epilepsy.

Sleeve fracture of the adult patella: Case report and review of the literature.

PubMed

Xie, Linjun; Xu, Hong; Zhang, Lizhi; Xu, Rong; Guo, Yingkun

2017-08-01

The patellar fractures are common in adults, but rare in children. As a particular type of patellar fracture, however, sleeve fractures are almost always limited to children in the under 16's group. Herein, we report a rare case of a 19-year-old healthy adult female who presented sleeve fracture at the superior pole of the left patella. The clinical and radiological features are found including joint effusion, anterior tilt of the patella and a shell of bone lying proximally to the patella. Computed tomography and magnetic resonance imaging examination have been performed to further confirm the diagnosis of sleeve fracture, rupture of the quadriceps tendon and the cartilaginous injury. Under general anaesthesia, she underwent open surgical procedures for reconstituting anatomically the fracture and repairing the rupture of the quadriceps tendon. Six months after the operation, she could fully use her left knee without any pain and disability. Sleeve fractures of the patellar in adults are extremely rare, and our case is of interest for the first time occurring in healthy female adults. Our case report and literature review was aim to describe the clinic and imaging characteristics of superior pole sleeve fractures in adults, and highlight that physicians must be aware of this entity in adults so as to reduce misdiagnosis due to unfamiliarity.

Ruptured persistent sciatic artery aneurysm managed by endovascular embolization.

PubMed

Rezayat, Combiz; Sambol, Elliot; Goldstein, Lee; Broderick, Stephen R; Karwowski, John K; McKinsey, James F; Vouyouka, Ageliki G

2010-01-01

Persistent sciatic artery (PSA) is a rare vascular anomaly present in 0.025% to 0.05% of the population. They are particularly prone to aneurysmal degeneration, potentially leading to distal ischemia, sciatic neuropathy, or rarely rupture. Here, we describe a case of a ruptured PSA aneurysm managed by endovascular embolization. A 70-year-old man initially presented with acute left lower extremity ischemia. He was found to have a popliteal embolus originating from a complete persistent sciatic artery aneurysm. He underwent thrombolysis followed by a femoropopliteal bypass and ligation of the proximal popliteal artery to exclude the PSA. Four weeks later he re-presented with severe pain, a pulsatile buttock mass, and anemia in the setting of hemodynamic instability. A ruptured PSA aneurysm was confirmed by computed tomography angiography (CTA). This was managed emergently by endovascular exclusion of the inflow and outflow vessels using Amplatzer vascular plugs. His postoperative course was complicated by both a foot drop, likely secondary to sciatic nerve ischemia, and a buttock abscess. To our knowledge, this is the first report detailing the endovascular management of a ruptured PSA aneurysm. The etiology, management, and complications associated with the treatment of this rare vascular entity are discussed. Copyright 2010 Annals of Vascular Surgery Inc. Published by Elsevier Inc. All rights reserved.

Sinonasal Globular Amyloidosis Simulating Malignancy: A Rare Presentation.

PubMed

Kumar, Binay; Pant, Bhawna; Kumar, Vikrant; Negi, Meghna

2016-09-01

Primary localized amyloidosis in the head and neck region is a rare entity. The most commonly involved organ is larynx. Primary amyloidosis localized to the sinonasal tract is extremely rare. We report one such case along with a brief review of the associated literature. The aim of reporting this case is to emphasize the fact that sometimes nasal amyloidosis can also present with signs and symptoms of nasal and nasopharyngeal malignancy. The definitive diagnosis in such cases depends upon histopathology and further confirmed by immunohistochemistry. A 55-year old male presented with recurrent episodes of nasal bleed, bilateral nasal obstruction, and bilateral hearing loss from last 7 years. On clinical examination a mass was found in the nasal cavity on both sides reaching up to the nasopharynx. Contrast enhanced CT scan revealed that the mass was extending up to the skull base and destroying bony landmarks of the nasal cavity and paranasal sinuses. Mass was proved to be amyloidosis after histopathological examination. It showed multiple blotches of globular submucosal deposit of amyloid, on staining with Congo red. Immunohistochemistry confirmed AL amyloidosis with expression of mixed kappa and lambda light chain immunoglobulin (κ > λ). No evidence of systemic amyloidosis was found after proper work up. It was managed by conservative surgery.

Co-occurence of florid cemento-osseous dysplasia and simple bone cyst: a case report.

PubMed

Rao, Kumuda Arvind; Shetty, Shishir Ram; Babu, Subhas G; Castelino, Renita Lorina

2011-01-01

The purpose of this report is to present a rare case of co-occurrence of florid cemento-osseous dysplasia with simple bone cyst in a middle aged Asian woman. Most of the reported cases are isolated cases of simple bone cyst or florid cemento-osseous dysplasia, but co-occurrence of these two entities is extremely rare. The authors report a 41 year old female patient with co-occurrence of mandibular florid cemento-osseous dysplasia with simple bone cyst. A thorough clinical and radiological examination was carried out. It was diagnosed mandibular cyst with possible co-occurrence of florid cemento-osseous dysplasia. Surgical exploration of the multilocular lesion was applied. Since, the patient was symptomatic at the time of presentation utmost caution was taken during the surgical procedure as florid cemento-osseous dysplasia is associated with hypo-vascularity of the affected bone. Based on histopathological, as well as supporting clinico-radiological findings a confirmative diagnosis of florid cemento-osseous dysplasia co-occurring with simple bone cyst was made. Patient was followed-up for a period of six months and was reported to be asymptomatic. Timely diagnosis and well planned treatment is important to obtain a good prognosis when a rare co-occurrence of two or more bone lesions affects the jaws.

Spontaneous radial nerve palsy subsequent to non-traumatic neuroma.

PubMed

Ebrahimpour, Adel; Nazerani, Shahram; Tavakoli Darestani, Reza; Khani, Salim

2013-09-01

Spontaneous radial palsy is a not rare finding in hand clinics. The anatomy of the radial nerve renders it prone to pressure paralysis as often called "Saturday night palsy". This problem is a transient nerve lesion and an acute one but the case presented here is very unusual in that it seems this entity can also occur as an acute on chronic situation with neuroma formation. A 61 year-old man presented with the chief complaint of inability to extend the wrist and the fingers of the left hand which began suddenly the night before admission, following a three-week history of pain, numbness and tingling sensation of the affected extremity. He had no history of trauma to the extremity. Electromyography revealed a severe conductive defect of the left radial nerve with significant axonal loss at the upper arm. Surgical exploration identified a neuroma of the radial nerve measuring 1.5 cm in length as the cause of the paralysis. The neuroma was removed and an end-to-end nerve coaption was performed. Complete recovery of the hand and finger extension was achieved in nine months.

Streptococcus intermedius: an unusual cause of spinal epidural abscess

PubMed Central

Ramhmdani, Seba

2017-01-01

Spinal epidural abscess (SEA) following dental procedures is a rarely reported entity. Here, we present a unique case of a 74-year-old immunocompetent man who developed severe lower back pain and bilateral lower extremity weakness 4 days following two root canal procedures. Lumbar spine magnetic resonance imaging (MRI) showed several pockets of epidural abscesses extending from L1 through L5. Blood cultures grew Streptococcus intermedius, an anaerobic commensal bacterium of the normal flora of the mouth and upper airways. The patient was treated with IV penicillin for 7 days but his symptoms continued to deteriorate. A repeat MRI showed extension of the epidural abscess to T10–T11 level. The patient was emergently transferred to our hospital where he underwent bilateral decompressive laminectomy of T10 through S1 and abscess evacuation. Pus culture was positive for Streptococcus intermedius, which confirmed the diagnosis and the treatment plan. He was discharged on intravenous (IV) penicillin for 6 weeks. His symptoms improved significantly postoperatively as he retained his baseline strength in his lower extremity. PMID:28744508

Gastric Volvulus: A Rare Entity Case Report and Literature Review

PubMed Central

Akhtar, Aisha; Sheikh, Abdul Ahad E; Sheikh, Abu Baker; Perisetti, Abhilash

2018-01-01

Gastric volvulus is a rare entity defined as an abnormal rotation of the stomach around itself. It is a diagnosis of exclusion; the clinical index of suspicion is always low and is mostly diagnosed on imaging or on the surgery table. When it occurs, it is an emergency due to the risk of strangulation and consequent gangrene of the stomach. Mesentero-axial (MA) gastric volvuli constitute one-third of all cases. Here, we are present an interesting case of acute MA gastric volvulus diagnosed with imaging and treated subsequently. PMID:29755908

Tapioca Cardiomyopathy: Curse of Cassava Endomyocardial Fibrosis

PubMed Central

Anandan, Prem Krishna; Shukkarbhai, Patel Jigarkumar; George, Jimmy; Bhatt, Prabhavathi; Manjunath, Cholenahally Nanjappa

2015-01-01

Tropical endomyocardial fibrosis is a rare entity in the present era. Restrictive cardiomyopathy due to tapioca consumption is very rare, although it has been reported in India, especially in state of Kerala. We report a rare case of restrictive cardiomyopathy secondary to tapioca consumption in a 20-year-old male patient. PMID:28197237

Dedifferentiated liposarcoma of the lower extremity with low-grade dedifferentiation and low-grade osteosarcomatous component.

PubMed

Zajicek, Anna K; Bridge, Julia A; Akers, Joshua W; McGarry, Sean V; Walker, Craig W

2017-02-01

Dedifferentiated liposarcoma can arise de novo or as a complication of a preexisting well-differentiated liposarcoma. We describe the radiologic and pathologic features of a long-standing liposarcoma with multiple recurrences in a 59-year-old male. Imaging demonstrated a heterogeneous fat-containing mass in the anterior thigh. The adjacent proximal femur showed irregular cortical new bone, eventually followed by intramedullary osteoblastic involvement and pathologic fracture. Histologic assessment at resection revealed dedifferentiated liposarcoma with low-grade osteosarcomatous component. The patient subsequently developed metastatic lesions in the lungs containing osteoid and osteoblastic bone metastases. We discuss the radiologic and pathologic features of this rare entity that, to our knowledge, has previously been reported to directly involve osseous structures in only one other case and discuss the potential pitfalls in diagnosis.

Osteoblastoma of the sternum--case report and review of the literature.

PubMed

Villalobos, Camilo E; Rybak, Leon D; Steiner, German C; Wittig, James C

2010-01-01

Osteoblastoma is an extremely rare entity that represents less than 1% of all bone tumors, and affects twice as many males as females with peak incidence between 15 and 20 years. Osteoblastomas commonly affect axial bones, long bones, bones of the foot and hand, and less commonly the pelvis, scapula, ribs, and clavicle. Osteoblastoma does not have a classic presentation, but can vary with the location and size of the tumor. The main complaint is often progressive pain localized at the tumor site. Osteoblastoma is a benign tumor with an aggressive behavior. The treatment is wide surgical resection, otherwise it continues to enlarge and destroy the bone and surrounding structures. We report a 32-year-old male with an osteoblastoma of this sternum who was treated with an en-bloc resection and reconstruction with Marlex((R)) and a methylmethacrylate plate.

Post-traumatic cervical pneumorrhachis--a rare entity.

PubMed

Gill, Maneet; Sreenivas, Mukkamala; Beniwal, Rajveer Singh

2011-02-01

Pneumorrhachis(PR) is a rare phenomenon and post traumatic PR even more so. Presentation can vary from asymptomatic to significant neurological deficit and so the management has to be individualised. We present a case of post-traumatic cervical PR.

CNN-based ranking for biomedical entity normalization.

PubMed

Li, Haodi; Chen, Qingcai; Tang, Buzhou; Wang, Xiaolong; Xu, Hua; Wang, Baohua; Huang, Dong

2017-10-03

Most state-of-the-art biomedical entity normalization systems, such as rule-based systems, merely rely on morphological information of entity mentions, but rarely consider their semantic information. In this paper, we introduce a novel convolutional neural network (CNN) architecture that regards biomedical entity normalization as a ranking problem and benefits from semantic information of biomedical entities. The CNN-based ranking method first generates candidates using handcrafted rules, and then ranks the candidates according to their semantic information modeled by CNN as well as their morphological information. Experiments on two benchmark datasets for biomedical entity normalization show that our proposed CNN-based ranking method outperforms traditional rule-based method with state-of-the-art performance. We propose a CNN architecture that regards biomedical entity normalization as a ranking problem. Comparison results show that semantic information is beneficial to biomedical entity normalization and can be well combined with morphological information in our CNN architecture for further improvement.

Inflammatory myoglandular polyp--a rare but distinct type of colorectal polyps.

PubMed

Becheanu, Gabriel; Stamm, Bernhard

2003-01-01

The aim of this paper was to report another example of a rare type of colorectal polyps, the inflammatory myoglandular polyp, and to reaffirm this type of polyp as a distinct entity. This solitary pedunculated polyp was detected after a single episode of rectal bleeding. It was situated in the sigmoid colon, measured 2.5 cm in greatest diameter, and was composed almost exclusively of smooth muscles and hyperplastic glands. The patient had neither chronic colitis nor diverticula. Clinical presentation, localization, and histology give this type of polyp a unique appearance and justify its designation as a separate entity.

Role of endoscopy in recalcitrant intraventricular tuberculoma-innovative novel treatment adjunct.

PubMed

Udayakumaran, Suhas; Nair, Prakash; Kumar, Anil; Panikar, Dilip

2014-09-15

Introduction. Intraventricular tuberculomas are rare entities. To the best of our knowledge, only 14 cases have been reported in English literature. Medical management of cerebral tuberculomas is well accepted. Intraventricular tuberculomas may be recalcitrant for unclear reasons. An effective management protocol for this entity is unclear. To the best of our knowledge, the definitive indication, timing, and possible role of surgery in these lesions have not been discussed in literature. Materials and methods. A 27-year-old nursing professional who was undergoing treatment for miliary tuberculosis at another center presented to us in 2008 with right hemiparesis, deteriorating vision, and progressive decline in consciousness. In addition to antituberculous therapy (ATT), she underwent multiple CSF diversion procedures for the obstructive hydrocephalus secondary to a recalcitrant third ventricular tuberculoma. Finally, she underwent endoscopic decompression of the lesion with a very good clinical response at 1-year follow-up. Discussion. We discuss a patient with recalcitrant intraventricular tuberculoma managed using neuroendoscopy along with the standard antituberculous therapy. We also discuss in detail the technique we utilized for endoscopic management of this lesion. Conclusion. Being a rare entity, a consensus for management of these lesions is not possible, but we have demonstrated that neuroendoscopic management of these rare entities is an option giving the advantage of definitive diagnosis when required, hastening the resolution, and clearing the CSF pathway.

Pancreatic pseudopapillary tumour: A rare misdiagnosed entity

PubMed Central

Affirul, C.A.; Qisti, F.N.; Zamri, Z.; Azlanuddin, A.; Hairol, A.O.; Razman, J.

2014-01-01

INTRODUCTION Solid pseudo papillary pancreatic tumour is a rare entity. The atypical presentation causes a delayed or misdiagnosis of these pathology. It commonly affects the female population in the 2nd and 3rd decade of life. The presentation varies from non-specific abdominal pain to incidental findings in asymptomatic patients. It is a low-grade premalignant condition that is curable by excision of the tumour. PRESENTATION OF CASE This paper presents a 17-year-old girl with intra-abdominal mass diagnosed with solid pseudo papillary tumour that underwent Whipple's procedure. DISCUSSION We discuss the presentations, diagnosis and pathology findings of this rare pathology. CONCLUSION The diagnosis remains an enigma in view of the nature and location of the tumour. Resection is still the best choice remains for this condition. PMID:25462046

Pancreatic pseudopapillary tumour: A rare misdiagnosed entity.

PubMed

Affirul, C A; Qisti, F N; Zamri, Z; Azlanuddin, A; Hairol, A O; Razman, J

2014-01-01

Solid pseudo papillary pancreatic tumour is a rare entity. The atypical presentation causes a delayed or misdiagnosis of these pathology. It commonly affects the female population in the 2nd and 3rd decade of life. The presentation varies from non-specific abdominal pain to incidental findings in asymptomatic patients. It is a low-grade premalignant condition that is curable by excision of the tumour. This paper presents a 17-year-old girl with intra-abdominal mass diagnosed with solid pseudo papillary tumour that underwent Whipple's procedure. We discuss the presentations, diagnosis and pathology findings of this rare pathology. The diagnosis remains an enigma in view of the nature and location of the tumour. Resection is still the best choice remains for this condition. Copyright © 2014 The Authors. Published by Elsevier Ltd.. All rights reserved.

Primary paranasal sinus hyalinizing clear cell carcinoma: a case report.

PubMed

AlAli, Batool M; Alyousef, Mohammed J; Kamel, Ahmad Salah; Al Hamad, Mohammad A; Al-Bar, Mohammad H; Algowiez, Roaa M

2017-09-25

Hyalinizing clear cell carcinoma (HCCC) is a rare low-grade tumour of salivary glands that was first described as a distinct entity in 1994 by Milchgrub et al. EWSR1-ATF1 fusion was found to be specific for this tumour. The majority of the reported cases of HCCC arise from minor salivary glands within the oral cavity. Primary HCCC of the paranasal sinus is extremely uncommon. To our knowledge, only three cases have been reported in the English literature. Herein, we present a case of HCCC of the posterior ethmoid/maxillary sinus. A 63-year-old lady who presented with a long history of epistaxis. CT scan revealed a destructive mass in the left ethmoid/posterior maxillary sinus extending to the nasal cavity. Surgical excision was done and microscopic evaluation showed a tumour composed mainly of nests of clear epithelial cells separated by fibrocellular and hyalinized septa with extensive bone destruction. The tumour cells expressed CK5/6, EMA and p63 immunohistochemically but were negative for S100 protein, PAX-8, RCC and CK7. Sinonasal renal cell-like adenocarcinomas, myoepithelial carcinoma and metastatic renal cell carcinoma were excluded by radiological and immunohistochemical studies. Fluorescence in situ hybridization analysis revealed an EWSR1 gene rearrangement. Postoperative radiation was administrated and the patient did not show recurrence or distant metastasis 4 months after the surgery. Head and neck region have many tumours that demonstrate clear cell changes on histology. Thus, the differential diagnosis for HCCC is wide. Awareness of this rare entity and the possibility of it is arising in unusual location is necessary. EWSR1-AFT1 fusion, a consistent finding in HCCC, can be used to confirm the diagnosis.

Epithelioid schwannoma of the skin displaying unique histopathological features: a teaching case giving rise to diagnostic difficulties on a morphological examination of a resected specimen, with a brief literature review.

PubMed

Yamada, Sohsuke; Kirishima, Mari; Hiraki, Tsubasa; Higashi, Michiyo; Hatanaka, Kazuhito; Tanimoto, Akihide

2017-01-19

Epithelioid schwannoma as a rare variant poses a challenge to all pathologists, as this uncommon entity is extremely difficult to conclusively diagnose by morphological analyses on a resected sample alone owing to its unique histopathological features. However, few papers have described the detailed clinicopathological characteristics of epithelioid schwannoma. A 65-year-old female presented with a history of a flat and slightly elevated firm and tan plaque accompanied by occasional tenderness, measuring 10 × 8 mm, in the right joint of her hand 1 year before resection. A gross examination of a locally resected specimen revealed an encapsulated nodular lesion, yellow-whitish in color, partly filled with blood. A microscopic examination showed that the tumor predominantly consisted of a solid proliferation of epithelioid cells having mildly enlarged and round to partially spindled nuclei and abundant vacuolated or clear cytoplasm with very few mitotic figures and modest nuclear size variation, associated with focal hyalinized, cystic and hemorrhagic degeneration. This well-demarcated tumor was surrounded by dense, hyalinized and layered fibrocollagenous stroma. Immunohistochemically, these tumor cells were diffusely positive for S-100 protein and had a very low MIB-1 labeling index, and type IV collagen was strongly reactive with reduplicated basal lamina of them. We ultimately made a diagnosis of cutaneous epithelioid schwannoma. We should be aware that, since pathologists might misinterpret epithelioid schwannoma as other soft tissue tumors, including its malignant counterpart, a wide panel of immunohistochemical antibodies can be powerful supplementary tools for identifying a very rare entity of conventional schwannoma.

Global Picture Archiving and Communication Systems (GPACS): An Overview

DTIC Science & Technology

1994-04-01

a separate entity in most hospitals because of the integration problems that exilb. Eventually these systems should be connected so they appear to the...extremely important to efficient image data transfer include the protocol being used between the two transferring entities . Image data is currently...images, sound or video. The actual database consists of a collection of persistent data that is used by an application system of some entity , in this

Pellagra-like condition is xeroderma pigmentosum/Cockayne syndrome complex and niacin confers clinical benefit.

PubMed

Hijazi, H; Salih, M A; Hamad, M H A; Hassan, H H; Salih, S B M; Mohamed, K A; Mukhtar, M M; Karrar, Z A; Ansari, S; Ibrahim, N; Alkuraya, F S

2015-01-01

An extremely rare pellagra-like condition has been described, which was partially responsive to niacin and associated with a multisystem involvement. The condition was proposed to represent a novel autosomal recessive entity but the underlying mutation remained unknown for almost three decades. The objective of this study was to identify the causal mutation in the pellagra-like condition and investigate the mechanism by which niacin confers clinical benefit. Autozygosity mapping and exome sequencing were used to identify the causal mutation, and comet assay on patient fibroblasts before and after niacin treatment to assess its effect on DNA damage. We identified a single disease locus that harbors a novel mutation in ERCC5, thus confirming that the condition is in fact xeroderma pigmentosum/Cockayne syndrome (XP/CS) complex. Importantly, we also show that the previously described dermatological response to niacin is consistent with a dramatic protective effect against ultraviolet-induced DNA damage in patient fibroblasts conferred by niacin treatment. Our findings show the power of exome sequencing in reassigning previously described novel clinical entities, and suggest a mechanism for the dermatological response to niacin in patients with XP/CS complex. This raises interesting possibilities about the potential therapeutic use of niacin in XP. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Sleeve fracture of the adult patella

PubMed Central

Xie, Linjun; Xu, Hong; Zhang, Lizhi; Xu, Rong; Guo, Yingkun

2017-01-01

Abstract Rationale: The patellar fractures are common in adults, but rare in children. As a particular type of patellar fracture, however, sleeve fractures are almost always limited to children in the under 16's group. Patient concerns: Herein, we report a rare case of a 19-year-old healthy adult female who presented sleeve fracture at the superior pole of the left patella. The clinical and radiological features are found including joint effusion, anterior tilt of the patella and a shell of bone lying proximally to the patella. Diagnoses: Computed tomography and magnetic resonance imaging examination have been performed to further confirm the diagnosis of sleeve fracture, rupture of the quadriceps tendon and the cartilaginous injury. Interventions: Under general anaesthesia, she underwent open surgical procedures for reconstituting anatomically the fracture and repairing the rupture of the quadriceps tendon. Outcomes: Six months after the operation, she could fully use her left knee without any pain and disability. Lessons: Sleeve fractures of the patellar in adults are extremely rare, and our case is of interest for the first time occurring in healthy female adults. Our case report and literature review was aim to describe the clinic and imaging characteristics of superior pole sleeve fractures in adults, and highlight that physicians must be aware of this entity in adults so as to reduce misdiagnosis due to unfamiliarity. PMID:28796028

Intravascular NK/T-cell lymphoma: a report of five cases with cutaneous manifestation from China.

PubMed

Wang, Lei; Chen, Siyuan; Ma, Han; Shi, Dongmei; Huang, Changzheng; Lu, Chun; Gao, Tianwen; Wang, Gang

2015-09-01

Intravascular lymphoma is a rare type of lymphoma that frequently affects the skin and is usually of B-cell origin. This lymphoma type is very rare and not recognized as a separate entity in the 2008 World Health Organization classification of hematopoietic and lymphoid tissue tumors. We reported five cases of intravascular NK/T cell lymphoma with cutaneous manifestation and reviewed 12 published cases involving Chinese patients with similar characteristics. All five patients were adults who exhibited red or brown patches or plaques on the lower extremities or trunk; four cases were associated with B symptoms; one case developed subsequent to a lymphoma on the face (possibly extranodal NK/T cell lymphoma, nasal type). Histopathologically, all patients exhibited abnormal, medium-sized intravascular lymphocytes in the dermis and subcutaneous tissues. All patients were positive for CD2, CD3ϵ, CD56 and cytotoxic proteins. All cases were Epstein-Barr virus (EBV) positive. Four of FIVE patients died of lymphoma within a few months of diagnosis. Intravascular NK/T-cell lymphoma is a rare highly aggressive and EBV-associated lymphoma that is prone to develop in Chinese patients. The relationship between intravascular NK/T-cell lymphoma and extranodal NK/T-cell lymphoma, nasal type, requires clarification. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Acute surgical abdomen due to phytobezoar-induced ileal obstruction.

PubMed

Salemis, Nikolaos S; Panagiotopoulos, Nikolaos; Sdoukos, Nikolaos; Niakas, Evangelos

2013-01-01

Phytobezoar-induced small bowel obstruction is an uncommon clinical entity accounting for 2-4.8% of all mechanical intestinal obstructions. In addition, presentation with features of acute surgical abdomen is extremely rare, accounting for only 1% of the patients. The aim of this report is to present a very rare case of a phytobezoar-induced small bowel obstruction in a male patient who presented with acute surgical abdomen. A correct preoperative diagnosis was made based on the patient's history and characteristic imaging features on the emergency computed tomography (CT) scan. A 55-year-old man with previous gastrectomy presented with typical manifestations of acute abdomen. CT scan demonstrated dilatated small bowel loops and an intraluminal ileal mass with a mottled appearance. At exploratory laparotomy, a phytobezoar was found impacted in the terminal ileum and was removed through an enterotomy. Phytobezoar should be considered in patients with previous gastric outlet surgery who present with bowel obstruction and features of acute surgical abdomen. The presence of a well-defined intraluminal mass with a mottled gas pattern on emergency CT scan is suggestive of an intestinal phytobezoar. Copyright © 2013 Elsevier Inc. All rights reserved.

Metachronous adrenal metastasis from operated contralateral renal cell carcinoma with adrenalectomy and iatrogenic Addison's disease.

PubMed

Ozturk, Hakan; Karaaslan, Serap

2014-09-01

Metachronous adrenal metastasis from contralateral renal cell carcinoma (RCC) surgery is an extremely rare condition. Iatrogenic Addison's disease occurring after metastasectomy (adrenalectomy) is an even rarer clinical entity. We present a case of a 68-year-old male with hematuria and left flank pain 9 years prior. The patient underwent left transperitoneal radical nephrectomy involving the ipsilateral adrenal glands due to a centrally-located, 75-mm in diameter solid mass lesion in the upper pole of the left kidney. The tumour lesion was confined within the renal capsule, and the histo-pathological examination revealed a Fuhrman nuclear grade II clear cell carcinoma. The patient underwent transperitoneal right adrenalectomy. The histopathological examination revealed metastasis of clear cell carcinoma. The patient was diagnosed with iatrogenic Addison's disease based on the measurement of serum cortisol levels and the adrenocorticotropic hormone (ACTH) stimulation test, after which glucocorticoid and mineralocorticoid replacement was initiated. The patient did not have local recurrence or new metastasis in the first year of the follow-up. The decision to perform ipsilateral adrenalectomy during radical nephrectomy constitutes a challenge, and the operating surgeon must consider all these rare factors.

Herpes Simplex Type 2 Encephalitis After Craniotomy: Case Report and Literature Review.

PubMed

Berger, Assaf; Shahar, Tal; Margalit, Nevo

2016-04-01

Herpes simplex encephalitis (HSE) after neurosurgical procedures is extremely uncommon, and the few published case reports mainly described herpes simplex virus type 1 (HSV-1) as being culpable. We present a rare case of HSV-2 encephalitis after craniotomy and describe its pathophysiology and optimal management. A 70-year-old woman underwent an elective resection of a recurrent left sphenoid wing meningioma and clipping of a left middle cerebral artery aneurysm, the latter having been found incidentally. She returned to our department with clinical findings suggestive of meningitis 12 days after the operation. Her lack of response to empiric antibiotic treatment, taken together with the lymphocyte-predominant initial cerebrospinal fluid obtained by lumbar puncture and the electroencephalographic indications of encephalopathy, led to the suspicion of a diagnosis of HSE, which was later confirmed by a polymerase chain reaction test positive for HSV-2. The patient was then successfully treated with intravenous acyclovir for 2 weeks followed by another week of oral acyclovir treatment before being discharged. The present case stresses the importance of recognizing the relatively rare entity of HSE after craniotomy. Timely correct diagnosis will expedite the initiation of appropriate treatment. Copyright © 2016 Elsevier Inc. All rights reserved.

A case of adult anaplastic cerebellar ganglioglioma.

PubMed

Bouali, Sofiene; Maatar, Nidhal; Zehani, Alia; Mahmoud, Maha; Kallel, Jalel; Jemel, Hafedh

2018-01-01

Anaplastic posterior fossa ganglioglioma in adults is exceedingly rare. To date, only one case of adult anaplastic posterior fossa ganglioglioma has been reported in the English literature and none has been described at the cerebellum. To our knowledge, this report is the third case of malignant posterior fossa ganglioglioma in adults and the first at the cerebellum. In general, this entity can be misdiagnosed preoperatively as a primary posterior fossa neoplasm, and by reporting our clinical and radiographic observations we want to add to the existing literature on this rare entity. A 40-year-old man presented with a history of headaches and dizziness and progressive gait disturbance and was diagnosed with anaplastic ganglioglioma in the posterior fossa. Although rare, our case demonstrates that anaplastic ganglioglioma should be considered in the differential diagnosis of infratentorial tumors in adult patients.

Case Report: A giant but silent adrenal pheochromocytoma – a rare entity

PubMed Central

Munakomi, Sunil; Rajbanshi, Saroj; Adhikary, Prof Shailesh

2016-01-01

Herein we report a rare entity of a giant adrenal pheochromocytoma in a fifty-year-old male presenting with a vague abdominal pain. A computerised tomogram of the abdomen revealed a well-defined  left supraadrenal giant lesion with no evidence of invasion to surrounding structures.The patient underwent surgical excision without any untoward postoperative events. Histopathological study revealed a benign pheochromocytoma. This report highlights the importance of acknowledging the fact that sometimes a giant adrenal pheochromocytoma can present with paucity of clinical  signs and symptoms.Thorough investigations and a multidisciplinary team approach may lead  to a better outcome in these patients. PMID:27785358

Intraosseous calcium migration in calcifying tendinitis: a rare cause of single sclerotic injury in the humeral head (2010: 2b).

PubMed

Martin, S; Rapariz, J M

2010-05-01

Intratendinous deposits of hydroxyapatite crystals are very common, particularly in the rotator cuff. In rare cases, the calcium located in the thickness of the supraspinatus tendon can suffer intraosseous migration into the greater tuberosity. We present a case of this rare entity: a 28-year-old patient who attended with pain and functional weakness in the left shoulder. The plain radiograph showed a sclerotic lesion in the greater tuberosity of the humeral head with a radiolucent halo. The MRI showed a lytic lesion containing the calcium inside and associated with an extensive pattern of oedema of the accompanying bone marrow. A plain radiograph taken 6 months before showed a calcifying tendinitis in the thickness of the supraspinatus tendon. A large number of entities can present as single sclerotic lesions of the humeral head. The diagnostic key lies in the existence of the calcifying tendinitis in the earlier study. The treatment of this disease consists of surgical removal of the calcium. The recognition of this entity is important to avoid unnecessary complementary tests and aggressive surgery, given that the surgical treatment is curative and leads to disappearance of the symptoms.

Remitting seronegative symmetrical synovitis with pitting edema (RS3PE); a rare association with phyllodes tumour of breast.

PubMed

Sarkar, R N; Phaujdar, Sibaji; Banerjee, Siwalik; Siddhanta, Sattik; De, Dibyendu; Bhattachary, Kuntal; Pal, Hare Krishna

2012-04-01

Remitting seronegative symmetrical synovitis with pitting edema (RS3PE) is a rare entity mainly found in elderly males. It is characterized by pitting edema mainly of dorsum of both hands giving a "boxing glove hand" appearance; rarely involving feet also, acute in onset, negative rheumatoid factor and a good response to low dose corticosteroid therapy. Clinically it almost resembles a case of polymyalgia rheumatica, late onset rheumatoid arthritis or other seronegative spondyloarthropathy.Though there are multiple underlying factors causing this rare entity but it has very close associations with many malignancies.So far its association with solid tumours and hematological malignancies has been reported. Phyllodes tumour of breast shows wide spectrum of activity from a benign condition to a locally aggressive and sometimes metastatic tumour.One fourth of the cases recur after definitive treatment.Our case represent an unusual association with recurrent phyllodes tumour of breast with RS3PE.

Surfer's myelopathy: case report and review.

PubMed

Karabegovic, Amna; Strachan-Jackman, Shirley; Carr, David

2011-09-01

Nontraumatic spinal cord injury from surfing is a new entity first described in 2004 and likely of ischemic etiology. We report the case of a 25-year-old man who presented to the emergency department with a 2-week history of lower extremity weakness after surfing in Indonesia. The patient reported developing low back pain, lower extremity weakness, sensory changes, and urinary retention shortly after his first surfing lesson. The patient was subsequently diagnosed with surfer's myelopathy. The purpose of this report is to review the clinical presentation, etiology, risk factors, and management of this increasingly described entity.

Thoracoscopic treatment of congenital esophageal stenosis in combination with H-type tracheoesophageal fistula.

PubMed

van Poll, Daan; van der Zee, David C

2012-08-01

Congenital esophageal stenosis combined with H-type tracheoesophageal fistula is a rare clinical entity that is often not diagnosed until months or sometimes many years after birth. We present a case of a boy who presented both these entities and was treated by thoracoscopy. Copyright © 2012 Elsevier Inc. All rights reserved.

Pediatric Type Follicular Lymphoma: A Rare Entity with Excellent Prognosis

DTIC Science & Technology

2018-01-19

lymphomas, has a median age range of 7.5-11.7, and has a male- female ratio of 4:1. This entity occurs most frequently in the tonsils and head and... neck lymph nodes. The pathogenesis of follicular lymphoma in adults is based upon immunoglobulin gene rearrangements with BCL2, BCL6, and MYC

Solitary phalanx plasmacytoma relapse with disseminated extramedullary plasmacytomas and myeloma after short duration of remission.

PubMed

Celik, I; Baltali, E; Barişta, I; Tekuzman, G; Kansu, E; Atahan, L; Güngen, Y; Firat, D

1996-01-01

Solitary bone plasmacytomas account for 5-7% of multiple myeloma cases and are assumed to have a fairly good prognosis, with a long duration of relapse-free survival after primary local treatment. Isolated phalanx plasmacytoma is a very rare entity, because involvement of extremities is seen in less than 1% of all solitary bone plasmacytomas, where they are usually localized centripedally, often in the axial skeleton. A 68 year old patient with a lytic lesion involving 5th phalanx was diagnosed as having a biopsy-proven solitary plasmacytoma, with a negative work-up for coexisting plasma cell dyscrasia. Three and a half months after completion of radiotherapy of the involved phalanx, the patient was readmitted with hypercalcemia, renal insufficiency and subsequently diagnosed as having atypical plasma cell infiltration of marrow, and plasmacytomas involving the right vocal cord and the premaxillary region, as well as pathological ulna fracture. Plasmacytoma of the phalanx, with extreme short duration of remission and an aggressive type of clinical relapse, is in sharp contrast with the natural stable course of a solitary plasmacytoma where the use of systemic treatment is subject to intense debate.

Myelopathy associated with melorheostosis: a case report.

PubMed

Reznik, Mark; Fried, Guy W

2005-07-01

A man in his mid thirties presented with lower-extremity weakness and spasticity because of a myelopathy caused by a rare disorder of bone known as melorheostosis. The primary pathology involved was compression of the cord at the cervicothoracic levels by dystrophic osseous formation within the vertebral bodies. Based on a review of existing literature, it was evident that the spine is an uncommon location to find melorheostosis, making this disease entity a unique cause of myelopathy. The patient's progress was closely observed during his inpatient rehabilitation program, after he underwent spinal decompression surgery. Starting from the level of complete paralysis, he was able to regain functional strength in his legs by the end of his 2-month course. Despite the lack of reported outcomes in cases of myelopathy associated with melorheostosis, our report describes a favorable prognosis with good recovery of both strength and function.

[Essential facial neuralgia with bilateral involvement: apropos of a case seen at the Cité Verte Hospital in Yaoundé].

PubMed

Djoumessi, A; Mendomo, E M; Onana, J; Djoumessi, S; Ndobo-Epoy, Ph

2002-09-01

Despite the fact that essential facial neuralgia is a well known clinical entity as relates to its evolution and treatment, its physiopathology is still a controversial issue. The form with bilateral evolution that we observed and that we are reporting here is extremely rare and its physiopathology is even more controversial. The case of our patient is all the more complicated in that, the pain topography is limited to the right to a sensitive region of the trigeminal nerve (superior maxillary) and to the left to the region of the mandible (inferior maxillary) A similar disease evolution is not described so far in the present literature of the disease. We have therefore seized this opportunity to out line the possible causes of faulty diagnosis in order that essential facial neuralgia should not be labelled as facial pain of tumoral, vascular or other origin.

Inflammatory fibroid polyp of the ileum with the appearance of a Borrmann type II lesion, caused by colostomy irrigation: report of a case.

PubMed

Ojima, Y; Okajima, M; Asahara, T; Arita, M; Kobayashi, R; Nakahara, M; Masaoka, Y; Toyota, K; Fujitaka, T; Kawahori, K; Shimamoto, F; Dohi, K

1997-01-01

Inflammatory fibroid polyps (IFPs) are rarely found in the gastrointestinal tract. The majority of IFPs are sessile-pedunculated or pedunculated polypoid lesions, whereas a polyp presenting like a Borrmann type II lesion is extremely unusual. This report describes the case of a 74-year-old man with a history of intussusception, in whom a preoperative diagnosis of a cecal tumor of the ileocecal valve was made. A laparotomy subsequently revealed a lesion similar to a Borrmann type II tumor located 15 cm above the ileocecal valve, but not at the valve. The lesion was diagnosed as an IFP which had been caused by repeated colostomy irrigation. The aim of the present report is to draw attention to this entity, which should be included in the differential diagnosis of intussusception and small bowel obstruction.

Giant right coronary artery aneurysm in an adult male patient with non-ST myocardial infarction.

PubMed

Halapas, Antonios; Lausberg, Henning; Gehrig, Thomas; Friedrich, Ivar; Hauptmann, Karl E

2013-01-01

The combination of a giant coronary aneurysm with multiple coronary aneurysms in adults is an extremely rare entity--especially in atherosclerotic patients, since it is most commonly associated with Kawasaki disease in children. We report an interesting case of a 59-year-old male patient with multiple atherosclerotic aneurysms of the left coronary system and a giant aneurysm of the right coronary artery. The patient was admitted to our hospital because of a non-ST myocardial infarction. Diagnosis was established by echocardiography, computed tomography angiogram, and coronary angiography. In view of the clinical symptoms and the extent of the giant right coronary aneurysm, with the associated risk of rupture, the patient was successfully treated with urgent surgical intervention. We also present a review of the current literature on this anomaly and a statistical analysis of all atherosclerotic giant coronary artery aneurysms previously reported.

[Glandular papilloma of the right main bronchus. Detection of an exon 2 mutation of the KRAS gene (c.35G>A)].

PubMed

Wohlschläger, J; Welter, S; Stamatis, G; Theegarten, D; Hager, T; Mairinger, F; Worm, K; Schmid, K W; Müller, K M

2013-07-01

Benign epithelial tumors of the tracheobronchial system and the lungs are exceedingly rare. These entities encompass squamous and glandular papillomas (as well as their mixed forms) and adenomas (alveolar adenoma, papillary adenoma, salivary gland-like pleomorphic and mucinous adenomas and mucinous cystadenomas). These tumors are considered to be biologically benign neoplasms; however, they can pose considerable diagnostic difficulties, especially during frozen section evaluation, as they can mimic malignant tumors and in particular they can resemble well differentiated papillary adenocarcinomas. As a result of the extreme rarity of these tumors only a few descriptive diagnostic series exist and a systematic investigation including molecular data does not exist. This article presents the case of a 64-year-old patient with a glandular papilloma of the right main bronchus including the immunohistochemical and molecular work-up as well as a review of the current literature.

The value and validation of broad spectrum biosensors for diagnosis and biodefense

PubMed Central

Metzgar, David; Sampath, Rangarajan; Rounds, Megan A; Ecker, David J

2013-01-01

Broad spectrum biosensors capable of identifying diverse organisms are transitioning from the realm of research into the clinic. These technologies simultaneously capture signals from a wide variety of biological entities using universal processes. Specific organisms are then identified through bioinformatic signature-matching processes. This is in contrast to currently accepted molecular diagnostic technologies, which utilize unique reagents and processes to detect each organism of interest. This paradigm shift greatly increases the breadth of molecular diagnostic tools with little increase in biochemical complexity, enabling simultaneous diagnostic, epidemiologic, and biothreat surveillance capabilities at the point of care. This, in turn, offers the promise of increased biosecurity and better antimicrobial stewardship. Efficient realization of these potential gains will require novel regulatory paradigms reflective of the generalized, information-based nature of these assays, allowing extension of empirical data obtained from readily available organisms to support broader reporting of rare, difficult to culture, or extremely hazardous organisms. PMID:24128433

Engineering Fluorometabolite Production: Fluorinase Expression in Salinispora tropica Yields Fluorosalinosporamide†

PubMed Central

Eustáquio, Alessandra S.; O'Hagan, David; Moore, Bradley S.

2010-01-01

Organofluorine compounds play an important role in medicinal chemistry where they are responsible for up to 15% of the pharmaceutical products on the market. While natural products are valuable sources of new chemical entities, natural fluorinated molecules are extremely rare and the pharmaceutical industry has not benefited from a microbial source of this class of compounds. Streptomyces cattleya is an unusual bacterium in that it elaborates fluoroacetate and the amino acid 4-fluorothreonine. The discovery in 2002 of the fluorination enzyme FlA responsible for C-F bond formation in S. cattleya, and its subsequent characterization, opened up for the first time the prospect of genetically engineering fluorometabolite production from fluoride ion in host organisms. As a proof of principle, we report here the induced production of fluorosalinosporamide by replacing the chlorinase gene salL from Salinispora tropica with the fluorinase gene flA. PMID:20085308

Acute esophageal necrosis and liver pathology, a rare combination

PubMed Central

Khan, Amir Maqbul; Hundal, Rangit; Ramaswamy, Vijaya; Korsten, Mark; Dhuper, Sunil

2004-01-01

Acute esophageal necrosis (AEN) or “black esophagus” is a clinical condition found at endoscopy. It is a rare entity the exact etiology of which remains unknown. We describe a case of ‘black esophagus’, first of its kind, in the setting of liver cirrhosis and hepatic encephalopathy. PMID:15285044

A case of adult anaplastic cerebellar ganglioglioma

PubMed Central

Bouali, Sofiene; Maatar, Nidhal; Zehani, Alia; Mahmoud, Maha; Kallel, Jalel; Jemel, Hafedh

2018-01-01

Background: Anaplastic posterior fossa ganglioglioma in adults is exceedingly rare. To date, only one case of adult anaplastic posterior fossa ganglioglioma has been reported in the English literature and none has been described at the cerebellum. To our knowledge, this report is the third case of malignant posterior fossa ganglioglioma in adults and the first at the cerebellum. In general, this entity can be misdiagnosed preoperatively as a primary posterior fossa neoplasm, and by reporting our clinical and radiographic observations we want to add to the existing literature on this rare entity. Case Description: A 40-year-old man presented with a history of headaches and dizziness and progressive gait disturbance and was diagnosed with anaplastic ganglioglioma in the posterior fossa. Conclusions: Although rare, our case demonstrates that anaplastic ganglioglioma should be considered in the differential diagnosis of infratentorial tumors in adult patients. PMID:29527389

Wandering spleen, gastric and pancreatic volvulus and right-sided descending and sigmoid colon.

PubMed

Flores-Ríos, Enrique; Méndez-Díaz, Cristina; Rodríguez-García, Esther; Pérez-Ramos, Tania

2015-10-01

Wandering spleen is a rare condition, characterized by a mobile spleen that is attached only by an elongated vascular pedicle, allowing it to migrate to any part of the abdomen or pelvis. Mesenteroaxial gastric volvulus usually occurs in children and may be associated with wandering spleen. Both entities result from abnormal laxity or absence of the peritoneal attachments due to abnormal fusion of the peritoneal mesenteries. Pancreatic volvulus is a very rare anomaly, with only a few isolated case reports described in association with wandering spleen. Anomalous right sided descending and sigmoid colon is a very rare entity and its association with wandering spleen has not been previously reported. We report a case of wandering spleen associated with mesenteroaxial gastric volvulus, pancreatic volvulus and rightward shift of the splenic flexure of the colon and right sided descending and sigmoid colon in a young female.

Wandering spleen, gastric and pancreatic volvulus and right-sided descending and sigmoid colon

PubMed Central

Flores-Ríos, Enrique; Méndez-Díaz, Cristina; Rodríguez-García, Esther; Pérez-Ramos, Tania

2015-01-01

Wandering spleen is a rare condition, characterized by a mobile spleen that is attached only by an elongated vascular pedicle, allowing it to migrate to any part of the abdomen or pelvis. Mesenteroaxial gastric volvulus usually occurs in children and may be associated with wandering spleen. Both entities result from abnormal laxity or absence of the peritoneal attachments due to abnormal fusion of the peritoneal mesenteries. Pancreatic volvulus is a very rare anomaly, with only a few isolated case reports described in association with wandering spleen. Anomalous right sided descending and sigmoid colon is a very rare entity and its association with wandering spleen has not been previously reported. We report a case of wandering spleen associated with mesenteroaxial gastric volvulus, pancreatic volvulus and rightward shift of the splenic flexure of the colon and right sided descending and sigmoid colon in a young female. PMID:26629290

The primary fallopian tube carcinoma: a rare association with pelvic nodal tuberculosis

PubMed Central

Mamouni, Nisrine; Saadi, Hanane; belfatemi, Hinde; Erraghay, Sanaa; Bouchikhi, Chahrazade; Banani, Abdelaziz

2017-01-01

The primary carcinoma of fallopian tube is a rare entity. It represents 0.14 to 1.81% of genital cancers in women. It is a cancer of older women. Its association with tuberculosis is exceptional. We report a rare case of bilateral serous adenocarcinoma of the fallopian tube in a patient aged 42 years, multiparous, whose characteristic is the unexpected association with peritoneal tuberculosis. PMID:29541309

Lower-Extremity Weakness in a Teenager Due to Thyrotoxic Periodic Paralysis.

PubMed

Thornton, Matthew D

2017-04-01

Thyrotoxic hypokalemic paralysis is the hallmark of thyrotoxic periodic paralysis (TPP). TPP is a potentially deadly complication of hyperthyroidism that occurs because of rapid and dramatic intracellular shift of potassium. This transference results in severe hypokalemia and clinically manifests itself as muscle weakness or paralysis. This condition predominantly affects males of Asian descent, and its presentation can range from mild to severe, as seen in our case. We present the case of a 15-year-old Asian-American male who presented to a tertiary-care pediatric emergency department complaining of generalized weakness and flaccid paralysis of his lower extremities. The differential for such a complaint is extremely broad, and the symptoms can result from etiologies arising from the cerebral cortex, the spinal cord, peripheral nerves, the neuromuscular junction, or even the muscles themselves. Our patient was found to have an extremely low serum potassium concentration, as well as an electrocardiogram that revealed a prolonged QT interval and right bundle branch block. The etiology of these abnormalities and the patient's symptoms was found to be undiagnosed and uncontrolled hyperthyroidism from Grave's disease, which resulted in this dramatic presentation of thyrotoxic hypokalemic paralysis. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: This entity is common in Asia but still somewhat rare in the United States and other Western countries. Our case illustrates that careful history taking and a focused diagnostic evaluation, in conjunction with having an awareness of this disease, can help expedite diagnosis and management, as well as avoid unnecessary and potential harmful testing in the emergency department setting. Copyright © 2016 Elsevier Inc. All rights reserved.

Tuberculosis of the Chest Wall with Massive Tuberculous Pleural Effusion.

PubMed

Monteiro, Mongressa V; Keny, Sanjivani J; Lawande, Durga J; Kakodkar, Uday C

2016-01-01

Primary tuberculosis of components of the chest wall is a rare entity. Involvement of skeletal muscle by tuberculosis without any primary focus is also rare. Here, we report a case of tuberculosis of chest wall without pulmonary or bone involvement, that invaded into the pleural space leading to a massive pleural effusion.

Primary renal diffuse large B-cell lymphoma with central nervous system involvement: a rare case report and literature review.

PubMed

Wang, Ying; Guo, Shuangshuang

2015-01-01

Primary renal lymphoma is a rare entity. Of these, diffuse large B-cell lymphoma is the most common pathological type and, R-CHOP regimen was the preferred chemotherapy for it. Here we present an adult case of primary renal diffuse large B-cell lymphoma.

Abdominal cocoon secondary to disseminated tuberculosis

PubMed Central

Puppala, Radha; Sripathi, Smiti; Kadavigere, Rajagopal; Koteshwar, Prakashini; Singh, Jyoti

2014-01-01

Abdominal cocoon, also known as sclerosing encapsulating peritonitis, represents a rare entity where a variable length of the small bowel is enveloped by a fibrocollagenous membrane giving the appearance of a cocoon. It may be asymptomatic and is often diagnosed incidentally at laparotomy. We present a rare case of abdominal cocoon due to abdominal tuberculosis. PMID:25239980

Primary Pulmonary Mucinous (Colloid) Adenocarcinoma that Arose in the Cavernomyoplasty Area in a Patient with Tuberculosis: A Rare Case Report.

PubMed

Yener, Neşe A; Sariman, Nesrin; Atasoy, Mehmet M; Midi, Ahmet; Örki, Alpay

2017-01-01

Primary pulmonary mucinous (colloid) adenocarcinoma is a rare type of lung cancer. Its arising in the cavernomyoplasty area has not been reported before. We here describe a sixty-year-old man with a previous history of multidrug-resistant and surgically-treated tuberculosis who was diagnosed as primary mucinous adenocarcinoma in the cavernomyoplasty site. We discuss the relevant literature on this rare entity.

[Soft tissue sarcoma of the upper extremities. Analysis of factors relevant for prognosis in 160 patients].

PubMed

Lehnhardt, M; Hirche, C; Daigeler, A; Goertz, O; Ring, A; Hirsch, T; Drücke, D; Hauser, J; Steinau, H U

2012-02-01

Soft tissue sarcomas (STS) are a rare entity with reduced prognosis due to their aggressive biology. For an optimal treatment of STS identification of independent prognostic factors is crucial in order to reduce tumor-related mortality and recurrence rates. The surgical oncological concept includes wide excisions with resection safety margins >1 cm which enables acceptable functional results and reduced rates of amputation of the lower extremities. In contrast, individual anatomy of the upper extremities, in particular of the hand, leads to an intentional reduction of resection margins in order to preserve the extremity and its function with the main intention of tumor-free resection margins. In this study, the oncological safety and outcome as well as functional results were validated by a retrospective analysis of survival rate, recurrence rate and potential prognostic factors. A total of 160 patients who had been treated for STS of the upper extremities were retrospectively included. Independent prognostic factors were analyzed (primary versus recurrent tumor, tumor size, resection status, grade of malignancy, additional therapy, localization in the upper extremity). Kaplan-Meier analyses for survival rate and local control were calculated. Further outcome measures were functional results validated by the DASH score and rate of amputation. In 130 patients (81%) wide tumor excision (R0) was performed and in 19 patients (12%) an amputation was necessary. The 5-year overall survival rate was 70% and the 5-year survival rate in primary tumors was 81% whereas in recurrences 55% relapsed locally. The 10-year overall survival rate was 45% and the 5-year recurrence rate was 18% for primary STS and 43% for recurrent STS. Variance analysis revealed primary versus recurrent tumor, tumor size, resection status and grade of malignancy as independent prognostic factors. Analysis of functional results showed a median DASH score of 37 (0-100; 0=contralateral extremity). The 5-year survival and local recurrence rates are comparable to STS wide resections with safety margins >1 cm for the lower extremities and the trunk. Analysis of prognostic factors revealed resection status and the tumor-free resection margins to be the main goals in STS resection of upper extremity.

Dermoid cyst of the pancreas: A case report with literature review

PubMed Central

Lane, Jason; Vance, Ansar; Finelli, Daniel; Williams, Gary; Ravichandran, Pars

2012-01-01

Pancreatic dermoid cysts represent a rare entity with 35 cases described in the world literature, including the present one. Pre-operative diagnosis is difficult, with definitive diagnosis usually taking place intra-operatively. We report the case of a 63 year old male with a symptomatic, 6 cm cystic mass in the body of the pancreas. The pre-operative evaluation suggested a cystic neoplasm, but was indeterminate as to whether the lesion was benign or malignant. The diagnosis of dermoid cyst was made intra-operatively with frozen section. Although the diagnosis could not be made pre-operatively this retrospective report highlights the difficulty in evaluating cystic pancreatic lesions by imaging and summarizes the current body of knowledge on this rare entity. PMID:23365699

[Primary perivascular epitheloid cell tumour (PEComa) of the liver - is a new entity of the liver tumors?].

PubMed

Panahova, S; Rempp, H; Sipos, B; Malek, N P; Boozari, B

2015-05-01

Perivascular epitheloid cell tumor (PEComa) is a rare tumor, characterized by dual Expression of smooth muscle and melanocytic markers. Due to the development of diagnostic procedures, we now diagnose PEComa more often. We report about a case of PEComa of the liver as an accidental finding. We analyze the clinical and morphological characteristics of this tumor and compare it with the data of the literature. Management of patients with PEComa is not yet standardized; therefore biopsy with immunhistochemical staining is necessary for the diagnosis. In case of liver tumors which cannot be classified by their morphology on imaging modalities, it is important to think about this rare entity. © Georg Thieme Verlag KG Stuttgart · New York.

Orthostatic hypotension as an unusual clinical manifestation of pheochromocytoma: a case report.

PubMed

Bortnik, Miriam; Occhetta, Eraldo; Marino, Paolo

2008-08-01

Pheochromocytoma is a rare endocrine tumor which can have a highly variable presentation related to increased catecholamine secretion. We report the case of a 74-year-old man in whom recurrent episodes of syncope due to orthostatic hypotension were the only clinical manifestations of this challenging entity. Diagnosis of pheochromocytoma was achieved by biochemical test samples and computed tomography scans. Surgical excision of the tumor resulted in clinical improvement with normalization of catecholamine concentrations and no more episodes of orthostatic hypotension during a follow-up of 24 months. Although rare, pheochromocytoma may frequently cause disorders of orthostatic tolerance; because of its meaningful implications, screening for this entity should be considered in case of recurrent syncopal episodes due to new-onset orthostatic hypotension.

Cutaneous silica granuloma. A rare entity or rarely diagnosed Report of two cases with review of the literature

DOE Office of Scientific and Technical Information (OSTI.GOV)

Mowry, R.G.; Sams, W.M. Jr.; Caulfield, J.B.

1991-05-01

Cutaneous silica granuloma is a poorly understood, uncommon condition that may mimic cutaneous sarcoidosis. We describe two cases of this entity and their characteristic latency period (between the time of silica exposure to the time of clinical onset of granuloma). We also review the histologic and energy dispersive x-ray analysis data, which prove the diagnosis. This condition should be recognized as an occupational dermatosis as well as the result of past incidental cuts or abrasions, which result in the development of granulomas, many in old wound scars. Differentiation from cutaneous sarcoidosis is possible with polarized light microscopy and energy-dispersive x-raymore » analysis.15 references.« less

A Scary Onset of a Rare and Aggressive Type of Primary Breast Sarcoma: A Case Report.

PubMed

Ramalho, Inês; Campos, Sara; Rebelo, Teresa; Figueiredo Dias, Margarida

2016-01-01

Primary breast sarcoma, arising from connective tissue within the breast, is extremely rare, accounting for less than 1% of all primary breast malignancies and no more than 5% of all sarcomas. The rarity of this pathology limits most studies to case reports and small retrospective studies, which has led to a lack of consensus on the clinical management. We report a clinical case of a 52-year-old woman, perimenopausal, previously healthy, with regular breast surveillance, who presented with a large (>20 cm) and rapidly expanding hypervascularized tumor of the left breast developed over 10 days, with a very thin preulcerative skin over the last 4 days. There was no systemic dissemination. The patient was submitted to total mastectomy and excision of axillary adenopathy. The tumor was diagnosed histologically as malignant phyllodes tumor associated with areas of high-grade sarcoma. Due to rapid growth and aggressive histological characteristics, adjuvant chemotherapy and radiotherapy were performed. There is a lot of evidence that tumors larger than 5 cm are associated with a poor prognosis. Despite the poor prognosis associated with this aggressive entity, the patient had no recurrence during 5 years of follow-up. We review the relevant literature about primary breast sarcomas.

A Scary Onset of a Rare and Aggressive Type of Primary Breast Sarcoma: A Case Report

PubMed Central

Ramalho, Inês; Campos, Sara; Rebelo, Teresa; Figueiredo Dias, Margarida

2016-01-01

Primary breast sarcoma, arising from connective tissue within the breast, is extremely rare, accounting for less than 1% of all primary breast malignancies and no more than 5% of all sarcomas. The rarity of this pathology limits most studies to case reports and small retrospective studies, which has led to a lack of consensus on the clinical management. We report a clinical case of a 52-year-old woman, perimenopausal, previously healthy, with regular breast surveillance, who presented with a large (>20 cm) and rapidly expanding hypervascularized tumor of the left breast developed over 10 days, with a very thin preulcerative skin over the last 4 days. There was no systemic dissemination. The patient was submitted to total mastectomy and excision of axillary adenopathy. The tumor was diagnosed histologically as malignant phyllodes tumor associated with areas of high-grade sarcoma. Due to rapid growth and aggressive histological characteristics, adjuvant chemotherapy and radiotherapy were performed. There is a lot of evidence that tumors larger than 5 cm are associated with a poor prognosis. Despite the poor prognosis associated with this aggressive entity, the patient had no recurrence during 5 years of follow-up. We review the relevant literature about primary breast sarcomas. PMID:28101028

Diagnostic pitfalls associated with a large true posterior communicating artery aneurysm: a case report.

PubMed

Nagatani, Kimihiro; Otani, Naoki; Seno, Soichiro; Takeuchi, Satoru; Wada, Kojiro; Mori, Kentaro

2013-10-01

True posterior communicating artery (PCoA) aneurysm is an aneurysm that originates from the PCoA, and large or giant true PCoA aneurysms are rare. We report a case of a large true PCoA aneurysm successfully clipped after anterior clinoidectomy and discuss the diagnostic pitfalls associated with this rare clinical entity.

Imaging Keratitis-Icthyosis-Deafness (KID) syndrome with FDG-PET (F18-fluorodeoxiglucose-Positron Emission Tomography).

PubMed

Aparici, Carina Mari; Arcienega, Daniela; Cho, Eric; Hawkins, Randy

2010-01-01

Keratitis-Icthyosis-Deafness (KID) syndrome is a rare dysplasia characterized by vascularizing keratitis, congenital sensorineural hearing-loss, and progressive erythrokeratoderma. To our knowledge, this is the first KID syndrome imaged with FDG-PET in the literature. This paper is intended to help familiarize with the FDG abnormalities related to this rare entity.

Primary tuberculosis of the breast manifested as abscess: a rare case report.

PubMed

Gupta, Samita; Singh, Vikram J; Bhatia, Gaurav; Dhuria, Kshitiz

2014-01-01

Primary breast tuberculosis is a rare entity. We are reporting a case of primary breast tuberculosis, which presented as breast abscess. On histopathology, it was diagnosed as breast tuberculosis. Aspiration cytology was not done due breast abscess. Patient was put on anti-tubercular drugs. In follow up, after 3 months patient condition was improved.

Abdominal cocoon secondary to disseminated tuberculosis.

PubMed

Puppala, Radha; Sripathi, Smiti; Kadavigere, Rajagopal; Koteshwar, Prakashini; Singh, Jyoti

2014-09-19

Abdominal cocoon, also known as sclerosing encapsulating peritonitis, represents a rare entity where a variable length of the small bowel is enveloped by a fibrocollagenous membrane giving the appearance of a cocoon. It may be asymptomatic and is often diagnosed incidentally at laparotomy. We present a rare case of abdominal cocoon due to abdominal tuberculosis. 2014 BMJ Publishing Group Ltd.

Small bowel perforation secondary to metastatic non-small cell lung cancer. A rare entity with a dismal prognosis.

PubMed

Salemis, Nikolaos S; Nikou, Efstathios; Liatsos, Christos; Gakis, Christos; Karagkiouzis, Grigorios; Gourgiotis, Stavros

2012-09-01

The incidence of gastrointestinal metastases from lung cancer is higher than previously thought as they have been reported in 2-14% of the cases in autopsy studies. However, clinically significant metastases are rare. Small bowel perforation secondary to metastatic non-small cell lung cancer is a very rare clinical entity. The aim of this study is to describe a case of ileal perforation in a patient with intestinal metastases of a non-small cell lung cancer, along with a review of the literature. A 57-year-old male with a history of non-small cell lung cancer was referred to our emergency department with signs and symptoms of acute surgical abdomen. A computed tomography scan demonstrated dilated small bowel loops, liver deposits, and signs of perforation of an intra-abdominal hollow viscus. Emergency exploratory laparotomy revealed diffuse purulent peritonitis and a perforated ileal tumor. A segmental small bowel resection and primary anastomosis were performed. Histological and immunohistochemical findings were consistent with a metastatic non-small cell lung carcinoma. Additional evaluation revealed widespread metastatic disease. Unfortunately, despite adjuvant treatment, the patient died of progressive disease 2 months after surgery. Small bowel perforation due to metastatic non-small cell lung cancer is a very rare clinical entity. The possibility of small bowel metastases should be kept in mind in patients with lung cancer presenting with an acute abdomen. Intestinal perforation occurs in advanced stages and is usually a sign of widespread disease. Aggressive surgery can provide effective palliation and may improve short-term survival. The prognosis is however dismal.

Myxedema Coma with Reversible Cardiopulmonary Failure: a Rare Entity in 21St Century.

PubMed

Dhakal, Prajwal; Pant, Manisha; Acharya, Pranab Sharma; Dahal, Sumit; Bhatt, Vijaya Raj

2015-09-01

Myxedema coma, a rare entity in 21st century in developed nations, is a decompensated phase of hypothyroidism with high mortality rates. We describe a young woman with myxedema, who developed respiratory failure, congestive heart failure and significant pericardial effusion, some of the uncommon manifestations. Decreased cardiac contractility can result in cardiomyopathy and heart failure. As illustrated by this case, myxedema can also result in significant pericardial effusion due to increased vascular permeability. Myxedema can further be complicated by alveolar hypoventilation and respiratory failure secondary to the lack of central drive as well as respiratory muscle weakness. Prompt therapy with thyroid hormone replacement, glucocorticoid therapy, aggressive supportive care and management of the precipitating event can save lives and reverse the cardiopulmonary symptoms, as in our patient. Hence, physicians should have a high index of suspicion for myxedema coma in patients with unexplained cardiopulmonary failure. Our report is, therefore, aimed at bringing awareness about the rare but fatal manifestations of myxedema coma.

Headache associated with airplane travel: a rare entity.

PubMed

Cherian, Ajith; Mathew, Mini; Iype, Thomas; Sandeep, P; Jabeen, Afshan; Ayyappan, K

2013-01-01

Airplane travel headache is rare and has recently been described as a new form of headache associated with a specific situation. Of the 1,208 patients with primary headaches attending a tertiary care neurology hospital, two (0.16%) patients satisfied the criteria for headache related to airplane travel. Both the patients fulfilled the proposed diagnostic criteria for airplane travel headache. This unique headache had a mean duration of 24 minutes, localized to the medial supraorbital region described as having an intense jabbing or stabbing character that occurred exclusively and maximally during aircraft landing or take-off, following which pain intensity subsided . This rare headache felt on aircraft descent is probably due to the squeeze effect on the frontal sinus wall, when air trapped inside it contracts producing a negative pressure leading to mucosal edema, transudation and intense pain. Use of nasal decongestants either alone or in combination with naproxen sodium prior to ascent and descent abated the headache episodes. Awareness about this unique entity is essential to provide proper treatment and avoid patient suffering.

Using extreme phenotype sampling to identify the rare causal variants of quantitative traits in association studies.

PubMed

Li, Dalin; Lewinger, Juan Pablo; Gauderman, William J; Murcray, Cassandra Elizabeth; Conti, David

2011-12-01

Variants identified in recent genome-wide association studies based on the common-disease common-variant hypothesis are far from fully explaining the hereditability of complex traits. Rare variants may, in part, explain some of the missing hereditability. Here, we explored the advantage of the extreme phenotype sampling in rare-variant analysis and refined this design framework for future large-scale association studies on quantitative traits. We first proposed a power calculation approach for a likelihood-based analysis method. We then used this approach to demonstrate the potential advantages of extreme phenotype sampling for rare variants. Next, we discussed how this design can influence future sequencing-based association studies from a cost-efficiency (with the phenotyping cost included) perspective. Moreover, we discussed the potential of a two-stage design with the extreme sample as the first stage and the remaining nonextreme subjects as the second stage. We demonstrated that this two-stage design is a cost-efficient alternative to the one-stage cross-sectional design or traditional two-stage design. We then discussed the analysis strategies for this extreme two-stage design and proposed a corresponding design optimization procedure. To address many practical concerns, for example measurement error or phenotypic heterogeneity at the very extremes, we examined an approach in which individuals with very extreme phenotypes are discarded. We demonstrated that even with a substantial proportion of these extreme individuals discarded, an extreme-based sampling can still be more efficient. Finally, we expanded the current analysis and design framework to accommodate the CMC approach where multiple rare-variants in the same gene region are analyzed jointly. © 2011 Wiley Periodicals, Inc.

Using Extreme Phenotype Sampling to Identify the Rare Causal Variants of Quantitative Traits in Association Studies

PubMed Central

Li, Dalin; Lewinger, Juan Pablo; Gauderman, William J.; Murcray, Cassandra Elizabeth; Conti, David

2014-01-01

Variants identified in recent genome-wide association studies based on the common-disease common-variant hypothesis are far from fully explaining the hereditability of complex traits. Rare variants may, in part, explain some of the missing hereditability. Here, we explored the advantage of the extreme phenotype sampling in rare-variant analysis and refined this design framework for future large-scale association studies on quantitative traits. We first proposed a power calculation approach for a likelihood-based analysis method. We then used this approach to demonstrate the potential advantages of extreme phenotype sampling for rare variants. Next, we discussed how this design can influence future sequencing-based association studies from a cost-efficiency (with the phenotyping cost included) perspective. Moreover, we discussed the potential of a two-stage design with the extreme sample as the first stage and the remaining nonextreme subjects as the second stage. We demonstrated that this two-stage design is a cost-efficient alternative to the one-stage cross-sectional design or traditional two-stage design. We then discussed the analysis strategies for this extreme two-stage design and proposed a corresponding design optimization procedure. To address many practical concerns, for example measurement error or phenotypic heterogeneity at the very extremes, we examined an approach in which individuals with very extreme phenotypes are discarded. We demonstrated that even with a substantial proportion of these extreme individuals discarded, an extreme-based sampling can still be more efficient. Finally, we expanded the current analysis and design framework to accommodate the CMC approach where multiple rare-variants in the same gene region are analyzed jointly. PMID:21922541

Mondor's disease of the breast. A retrospective review.

PubMed

Salemis, Nikolaos S; Merkouris, Stamatios; Kimpouri, Konstantina

2011-01-01

Mondor's disease is a rare benign clinical entity characterized by thrombophlebitis of the superficial veins of the anterolateral thoraco-abdominal wall. Although several predisposing factors have been reported, the exact pathogenesis remains unclear. We retrospectively reviewed the medical records of all patients older than 14 years who were diagnosed with Mondor's disease of the breast at the Breast Cancer Surgery Unit of Army General Hospital over a 3-year period. Five cases of Mondor's disease were identified among 5717 breast examinations performed during the study period. In 4 patients the disease was considered to be idiopathic. Ultrasonography established the diagnosis in all patients but mammography was inconclusive in two cases due to the presence of dense breast tissue. Four patients received symptomatic treatment. All patients had complete clinical resolution within 2-8 weeks of presentation, and they are well without any evidence of recurrence for 3 to 32 months later. No cases were associated with breast cancer. Mondor's disease of the breast is a rare benign self-limiting clinical entity. Ultrasonography is the diagnostic modality of choice but mammography may be inconclusive in the presence of dense breast tissue. Awareness of this rare entity is mandatory to prevent an unnecessary biopsy whereas the patients should be reassured of the benign nature of this disorder. Thorough evaluation is however necessary to rule out an underlying breast cancer or another systemic disease.

A Unique Case of Malignant Pleuropericardial Effusion: HHV-8-Unrelated PEL-Like Lymphoma—A Case Report and Review of the Literature

PubMed Central

Mohammad, Farhan; Siddique, Muhammad Neaman; Siddiqui, Faraz; Popalzai, M.; Asgari, Masoud; Odaimi, Marcel

2014-01-01

Primary effusion lymphoma (PEL) or body cavity lymphoma is a rare type of extra nodal lymphoma of B-cell origin that presents as lymphomatous effusion(s) without any nodal enlargement or tumor masses. It belongs to the group of AIDS related non-Hodgkin's lymphomas. First described in 1996 in HIV infected individuals who were coinfected with Kaposi's sarcoma-associated herpesvirus (KSHV) or HHV-8 virus, it was included as a separate entity in WHO classification of tumors of hematopoietic and lymphoid tissue in the year 2001. The definition included association with HHV-8 virus as a mandatory diagnostic criterion. However, cases were later reported where PEL-like disease process was diagnosed in HHV-8 negative patients. This was eventually recognized as a rare but distinct entity termed as “HHV-8-unrelated PEL-like lymphoma”. Herein, we are reporting a case of an elderly patient who presented with a large pleuropericardial effusion and was eventually diagnosed with this entity. Till date, only around 50 cases of HHV-8-unrelated PEL-like lymphoma have been reported and our case being EBV, HIV, and Hepatitis C negative makes it very unique and rare occurrence. We are also presenting a review of relevant literature focused mainly on comparing outcomes in patients treated with and without chemotherapy. PMID:24716045

Imaging Biomarkers for Adult Medulloblastomas: Genetic Entities May Be Identified by Their MR Imaging Radiophenotype.

PubMed

Keil, V C; Warmuth-Metz, M; Reh, C; Enkirch, S J; Reinert, C; Beier, D; Jones, D T W; Pietsch, T; Schild, H H; Hattingen, E; Hau, P

2017-10-01

The occurrence of medulloblastomas in adults is rare; nevertheless, these tumors can be subdivided into genetic and histologic entities each having distinct prognoses. This study aimed to identify MR imaging biomarkers to classify these entities and to uncover differences in MR imaging biomarkers identified in pediatric medulloblastomas. Eligible preoperative MRIs from 28 patients (11 women; 22-53 years of age) of the Multicenter Pilot-study for the Therapy of Medulloblastoma of Adults (NOA-7) cohort were assessed by 3 experienced neuroradiologists. Lesions and perifocal edema were volumetrized and multiparametrically evaluated for classic morphologic characteristics, location, hydrocephalus, and Chang criteria. To identify MR imaging biomarkers, we correlated genetic entities sonic hedgehog ( SHH ) TP53 wild type, wingless ( WNT ), and non -WNT/ non -SHH medulloblastomas (in adults, Group 4), and histologic entities were correlated with the imaging criteria. These MR imaging biomarkers were compared with corresponding data from a pediatric study. There were 19 SHH TP53 wild type (69%), 4 WNT -activated (14%), and 5 Group 4 (17%) medulloblastomas. Six potential MR imaging biomarkers were identified, 3 of which, hydrocephalus ( P = .03), intraventricular macrometastases ( P = .02), and hemorrhage ( P = .04), when combined, could identify WNT medulloblastoma with 100% sensitivity and 88.3% specificity (95% CI, 39.8%-100.0% and 62.6%-95.3%). WNT -activated nuclear β-catenin accumulating medulloblastomas were smaller than the other entities (95% CI, 5.2-22.3 cm 3 versus 35.1-47.6 cm 3 ; P = .03). Hemorrhage was exclusively present in non -WNT/ non -SHH medulloblastomas ( P = .04; n = 2/5). MR imaging biomarkers were all discordant from those identified in the pediatric cohort. Desmoplastic/nodular medulloblastomas were more rarely in contact with the fourth ventricle (4/15 versus 7/13; P = .04). MR imaging biomarkers can help distinguish histologic and genetic medulloblastoma entities in adults and appear to be different from those identified in children. © 2017 by American Journal of Neuroradiology.

A rare disease in an atypical location-Kimura's Disease of the upper extremity.

PubMed

Lam, Alan Cheuk Si; Au Yeung, Rex Kwok Him; Lau, Vince Wing Hang

2015-12-01

Kimura's disease is a rare chronic inflammatory disorder predominantly affecting young Asian male patients, occurring mainly in the head and neck regions. Kimura's disease of the upper extremity is extremely rare, and previous case reports in the literature show similar imaging characteristics with consistent location at the medial epitrochlear region, predominantly with unilateral involvement. We present the first reported case of Kimura's disease affecting the anterolateral aspect of the upper arm, sparing the medial epitrochlear region, illustrating that with typical MR appearance and serology, the involvement of this rare disease in an atypical location still warrants consideration of this diagnosis. There was also bilateral asymmetrical involvement in our patient, suggesting the possibility of a propensity for Kimura's disease affecting the upper extremities to have bilateral involvement, which may necessitate imaging of the clinically asymptomatic contralateral limb in these patients for early lesion identification and treatment.

An unusual case of spontaneous esophagopleural fistula.

PubMed

Dash, Manoranjan; Mohanty, Thitta; Patnaik, Jyoti; Mishra, Narayan; Subhankar, Saswat; Parida, Priyadarsini

2017-01-01

Esophago-pleural fistula (EPF) is an uncommon condition, despite of an anatomical proximity of these structures. Causes of EPF include pneumonectomy for suppurative or tubercular disease of lung and carcinoma lung, malignancy of esophagus. Benign EPF is rare and may be due to trauma or infection. The most common infectious cause is tuberculosis. Spontaneous development of fistula between esophagus and pleura is rarely described in literature. We, hereby present a spontaneous case of such a rare entity in a middle-aged male.

An unusual case of spontaneous esophagopleural fistula

PubMed Central

Dash, Manoranjan; Mohanty, Thitta; Patnaik, Jyoti; Mishra, Narayan; Subhankar, Saswat; Parida, Priyadarsini

2017-01-01

Esophago-pleural fistula (EPF) is an uncommon condition, despite of an anatomical proximity of these structures. Causes of EPF include pneumonectomy for suppurative or tubercular disease of lung and carcinoma lung, malignancy of esophagus. Benign EPF is rare and may be due to trauma or infection. The most common infectious cause is tuberculosis. Spontaneous development of fistula between esophagus and pleura is rarely described in literature. We, hereby present a spontaneous case of such a rare entity in a middle-aged male. PMID:28474659

Dedifferentiated chondrosarcoma: an aggressive variant of chondrosarcoma.

PubMed

Bharath, Gangadhara; Burrah, Rajaram; Shivakumar, Kuppuswamy; Manjunath, Suraj; Bhanumathi, Rao

2015-02-01

Dedifferentiated chondrosarcomas are a rare and aggressive subtype of chondrosarcoma with a bimorphic pattern on histopathology. Rib is a rare site of dedifferentiated chondrosarcoma. Diagnosis of this subtype preoperatively can be challenging. Treatment options for dedifferentiated chondrosarcoma are limited because they are chemoresistant, and therefore adequate surgery forms the main stay of treatment. We present our experience with a dedifferentiated chondrosarcoma of the rib, and discuss the management of this rare entity. © The Author(s) 2014 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.

Osteolytic Bone Lesions - A Rare Presentation of AML M6.

PubMed

Geetha, N; Sreelesh, K P; Priya, M J; Lali, V S; Rekha, N

2015-01-01

Acute myeloid leukemia (AML) M6 is a rare form of AML accounting for < 5 % of all AML. Extramedullary involvement is very rarely seen in this entity. Skeletal lesion has not been described in AML M6 before. We discuss the case of a 17 year old boy with AML M6, who presented with osteolytic lesion of right humerus. He was treated with induction and consolidation chemotherapy. The present case is the first report in literature of AML M6 presenting with skeletal lesions.

Cerebellar liponeurocytoma with extracranial extension: case report.

PubMed

Ben Nsir, A; Ben Said, I; Hammami, N; Sebai, R; Jemel, H

2014-01-01

Cerebellar liponeurocytoma is a newly recognized, rare clinicopathological entity commonly described in the cerebellar hemispheres or the vermis. We present a rare case of cerebellar liponeurocytoma arising from the left cerebellar amygdala with extracranial extension. Such a condition has never been previously reported. Copyright © 2014 Polish Neurological Society. Published by Elsevier Urban & Partner Sp. z o.o. All rights reserved.

Imaging Keratitis-Icthyosis-Deafness (KID) syndrome with FDG-PET (F18-fluorodeoxiglucose-Positron Emission Tomography)

PubMed Central

Aparici, Carina Mari; Arcienega, Daniela; Cho, Eric; Hawkins, Randy

2010-01-01

Keratitis-Icthyosis-Deafness (KID) syndrome is a rare dysplasia characterized by vascularizing keratitis, congenital sensorineural hearing-loss, and progressive erythrokeratoderma. To our knowledge, this is the first KID syndrome imaged with FDG-PET in the literature. This paper is intended to help familiarize with the FDG abnormalities related to this rare entity. PMID:22470741

Aggressive Angiomyolipomas: the Clandestine Epithelioid Variant

PubMed Central

Maré, Anton; Wickramasinghe, Shehan; Ilie, Victor; Mulcahy, Maurice

2016-01-01

Epithelioid angiomyolipoma is a rare mesenchymal derived neoplasm of the kidney. Thought to be a variant of classical angiomyolipoma, a benign tumour, its malignant potential has been highlighted by case reports of loco-regional and distant metastasis. Given the potentially adverse clinical course associated with epithelioid angiomyolipoma compared to classical angiomyolipoma, the distinction and comprehensive histological characterisation of this rare entity is essential. PMID:26989374

Aggressive Angiomyolipomas: the Clandestine Epithelioid Variant.

PubMed

Maré, Anton; Wickramasinghe, Shehan; Ilie, Victor; Mulcahy, Maurice

2016-02-01

Epithelioid angiomyolipoma is a rare mesenchymal derived neoplasm of the kidney. Thought to be a variant of classical angiomyolipoma, a benign tumour, its malignant potential has been highlighted by case reports of loco-regional and distant metastasis. Given the potentially adverse clinical course associated with epithelioid angiomyolipoma compared to classical angiomyolipoma, the distinction and comprehensive histological characterisation of this rare entity is essential.

Intramedullary dermoid cyst infection mimicking holocord tumor: should radical resection be mandatory?-a case report.

PubMed

Karaaslan, Burak; Ülkü, Göktuğ; Ucar, Murat; Demirdağ, Tuğba Bedir; İnan, Arda; Börcek, Alp Özgün

2016-11-01

Dermoid cysts are benign lesions which contain epidermal and dermal elements. Dermoid cysts usually contain a dermal sinus tract but this is not mandatory. Dermoid cysts can manifest by spinal cord infection without a dermal sinus tract. An infected spinal dermoid cyst associated with a holocord spinal abscess poses diagnostic and surgical challenges. Although radical surgical drainage is considered as the main treatment modality for spinal abscess, less extensive surgery for microbiological sampling and appropriate antibiotic treatment can be another alternative modality. A 1-year-old boy patient was admitted to our hospital with progressive paraplegia, bladder dysfunction, and neck rigidity. Medical history of the patient included recurrent urinary tract infection and cephalosporin treatments several times. Initial neurological examination revealed confusion, fever, neck rigidity, paraplegia (also, the motor power of the right upper extremity was three fifths that of the upper extremities). He had urinary and gastrointestinal retention. Conservative surgery was performed to take pathological and microbiological samples. With appropriate antibiotic regimen, the nuchal rigidity and fever improved dramatically. Infectious parameters in blood biochemistry significantly decreased after the antibiotic regimen. Holocord spinal abscesses are a rare entity. The source of the disease can be hemopoietic spread or contagious spread. The dermal sinus tract is major risk factor for contagious spread. The major hemopoietic sources are urogenital infection, endocarditis, and infective lung diseases. The hemopoietic spread is a more common source for pediatric patients. The thoracolumbar region is the most common site of involvement. Spinal infection has a tendency to extend longitudinally throughout spinal fibers. The pathogenesis of the holocord edema or syrinx is uncertain. The underlying etiology may be inflammation, infection, and associated venous congestion within the spinal canal. Also, CSF circulation alteration due to arachnoiditis may be another etiological factor. The most important entities on outcome are appropriate surgical treatment and antibiotic administration.

Primary rhabdomyosarcoma of the pineal gland.

PubMed

Lau, Steven K M; Cykowski, Matthew D; Desai, Shiv; Cao, Ying; Fuller, Gregory N; Bruner, Janet; Okazaki, Ian

2015-05-01

To report a case of primary rhabdomyosarcoma (RMS) of the pineal gland in an adult, as well as review the literature on this rare entity. The case is compared with previous reports of similar entities, with emphasis on this patient's characteristics and clinical presentation, investigations, and management. Diagnosis of primary RMS of the pineal gland was based on the presence of strap cells and multinucleated myotube-like structures, as well as tumor cell expression of skeletal muscle markers consistent with myogenic differentiation. Multimodality treatment was initiated based on pediatric protocols. Unfortunately, the disease progressed on treatment, and the patient survived only 5 months from diagnosis. Pineal RMS is a rare disease with poor prognosis. Optimal management is unknown but likely to involve aggressive multimodality therapy. Copyright© by the American Society for Clinical Pathology.

Extreme and superextreme events in a loss-modulated CO2 laser: Nonlinear resonance route and precursors

NASA Astrophysics Data System (ADS)

Bonatto, Cristian; Endler, Antonio

2017-07-01

We investigate the occurrence of extreme and rare events, i.e., giant and rare light pulses, in a periodically modulated CO2 laser model. Due to nonlinear resonant processes, we show a scenario of interaction between chaotic bands of different orders, which may lead to the formation of extreme and rare events. We identify a crisis line in the modulation parameter space, and we show that, when the modulation amplitude increases, remaining in the vicinity of the crisis, some statistical properties of the laser pulses, such as the average and dispersion of amplitudes, do not change much, whereas the amplitude of extreme events grows enormously, giving rise to extreme events with much larger deviations than usually reported, with a significant probability of occurrence, i.e., with a long-tailed non-Gaussian distribution. We identify recurrent regular patterns, i.e., precursors, that anticipate the emergence of extreme and rare events, and we associate these regular patterns with unstable periodic orbits embedded in a chaotic attractor. We show that the precursors may or may not lead to the emergence of extreme events. Thus, we compute the probability of success or failure (false alarm) in the prediction of the extreme events, once a precursor is identified in the deterministic time series. We show that this probability depends on the accuracy with which the precursor is identified in the laser intensity time series.

A Developmental Approach to Machine Learning?

PubMed Central

Smith, Linda B.; Slone, Lauren K.

2017-01-01

Visual learning depends on both the algorithms and the training material. This essay considers the natural statistics of infant- and toddler-egocentric vision. These natural training sets for human visual object recognition are very different from the training data fed into machine vision systems. Rather than equal experiences with all kinds of things, toddlers experience extremely skewed distributions with many repeated occurrences of a very few things. And though highly variable when considered as a whole, individual views of things are experienced in a specific order – with slow, smooth visual changes moment-to-moment, and developmentally ordered transitions in scene content. We propose that the skewed, ordered, biased visual experiences of infants and toddlers are the training data that allow human learners to develop a way to recognize everything, both the pervasively present entities and the rarely encountered ones. The joint consideration of real-world statistics for learning by researchers of human and machine learning seems likely to bring advances in both disciplines. PMID:29259573

Impaired Pituitary Axes Following Traumatic Brain Injury

PubMed Central

Scranton, Robert A.; Baskin, David S.

2015-01-01

Pituitary dysfunction following traumatic brain injury (TBI) is significant and rarely considered by clinicians. This topic has received much more attention in the last decade. The incidence of post TBI anterior pituitary dysfunction is around 30% acutely, and declines to around 20% by one year. Growth hormone and gonadotrophic hormones are the most common deficiencies seen after traumatic brain injury, but also the most likely to spontaneously recover. The majority of deficiencies present within the first year, but extreme delayed presentation has been reported. Information on posterior pituitary dysfunction is less reliable ranging from 3%–40% incidence but prospective data suggests a rate around 5%. The mechanism, risk factors, natural history, and long-term effect of treatment are poorly defined in the literature and limited by a lack of standardization. Post TBI pituitary dysfunction is an entity to recognize with significant clinical relevance. Secondary hypoadrenalism, hypothyroidism and central diabetes insipidus should be treated acutely while deficiencies in growth and gonadotrophic hormones should be initially observed. PMID:26239686

The injury of the calcaneocuboid ligaments.

PubMed

Andermahr, J; Helling, H J; Maintz, D; Mönig, S; Koebke, J; Rehm, K E

2000-05-01

The selective rupture of the calcaneocuboid ligament is extremely rare and frequently misdiagnosed. This study tries to clarify the mechanism, classification and treatment of this entity. The necessity of radiographs with varus stress and in certain cases of computer tomography (CT) and magnetic resonance imaging (MRI), beside the routine antero-posterior and lateral views, is emphasized. Thirteen cases out of five-hundred-twenty-one sprain injuries of the ankle are described, classified and the therapy discussed: If on varus stress radiographs, there is a calcaneocuboid angle <10 degrees without a bony flake (type 1) strapping for six weeks is indicated. A calcaneocuboid angle >10 degrees with or without a small bony flake of the ligament insertion (type 2) should primarily be treated with a shoe cast for 6 weeks; if there are persistent symptoms a secondary peroneus brevis tendon graft is recommended. A calcaneocuboid angle >10 degrees with a big flake (type 3) should be treated by open reduction and refixation of the ligament. Complex injuries (type 4) are characterised by cuboid compression fracture and ligament rupture.

Primary tubercular abscess of the breast--an unusual entity.

PubMed

Gupta, R; Singal, R P; Gupta, A; Singal, S; Shahi, S R; Singal, R

2012-02-22

Primary breast tuberculosis manifested as abscess is a rare entity. We are reporting a case of primary breast tuberculosis, which presented as breast abscess. Abscess was drained and tissue sent for histopathology. To our surprise, diagnosis came as breast tuberculosis. Aspiration cytology was not done, as it is not a routine test for abscess cases. Patient was put on anti- tubercular drugs. In the follow-up of 6 months, she was asymptomatic and advised to continue medicine.

The fourth branchial complex anomaly: a rare clinical entity.

PubMed

Patel, Alpen B; Hinni, Michael L

2011-01-01

Fourth branchial pouch anomalies are rare congenital disorders of the neck and are a consequence of abnormal development of the branchial apparatus during embryogenesis. Failure to appropriately recognize these anomalies may result in misdiagnosis, insufficient treatment, and continued recurrence. Here, we present an unique presentation of two cases, describe their diagnosis, clinical course, and management, and review the literature regarding these interesting anomalies.

The Fourth Branchial Complex Anomaly: A Rare Clinical Entity

PubMed Central

Patel, Alpen B.; Hinni, Michael L.

2011-01-01

Fourth branchial pouch anomalies are rare congenital disorders of the neck and are a consequence of abnormal development of the branchial apparatus during embryogenesis. Failure to appropriately recognize these anomalies may result in misdiagnosis, insufficient treatment, and continued recurrence. Here, we present an unique presentation of two cases, describe their diagnosis, clinical course, and management, and review the literature regarding these interesting anomalies. PMID:22937376

Spontaneous temporal encephaloceles masked by dual pathology: report of two cases.

PubMed

Paleri, V; Watson, C

2001-05-01

Spontaneous temporal meningoencephaloceles are rare entities and diagnostic difficulties can occur. We present two cases whose presentation was atypical and diagnosis delayed by the presence of dual pathology.

New tumor entities in the 4th edition of the World Health Organization classification of head and neck tumors: Nasal cavity, paranasal sinuses and skull base.

PubMed

Thompson, Lester D R; Franchi, Alessandro

2018-03-01

The World Health Organization recently published the 4th edition of the Classification of Head and Neck Tumors, including several new entities, emerging entities, and significant updates to the classification and characterization of tumor and tumor-like lesions, specifically as it relates to nasal cavity, paranasal sinuses, and skull base in this overview. Of note, three new entities (NUT carcinoma, seromucinous hamartoma, biphenotypic sinonasal sarcoma,) were added to this section, while emerging entities (SMARCB1-deficient carcinoma and HPV-related carcinoma with adenoid cystic-like features) and several tumor-like entities (respiratory epithelial adenomatoid hamartoma, chondromesenchymal hamartoma) were included as provisional diagnoses or discussed in the setting of the differential diagnosis. The sinonasal tract houses a significant diversity of entities, but interestingly, the total number of entities has been significantly reduced by excluding tumor types if they did not occur exclusively or predominantly at this site or if they are discussed in detail elsewhere in the book. Refinements to nomenclature and criteria were provided to sinonasal papilloma, borderline soft tissue tumors, and neuroendocrine neoplasms. Overall, the new WHO classification reflects the state of current understanding for many relatively rare neoplasms, with this article highlighting the most significant changes.

A critical appraisal of the mild axonal peripheral neuropathy of late neurologic Lyme disease

PubMed Central

Wormser, Gary P.; Strle, Franc; Shapiro, Eugene D.; Dattwyler, Raymond J.; Auwaerter, Paul G.

2018-01-01

In older studies, a chronic distal symmetric sensory neuropathy was reported as a relatively common manifestation of late Lyme disease in the United States. However, the original papers describing this entity had notable inconsistencies and certain inexplicable findings, such as reports that this condition developed in patients despite prior antibiotic treatment known to be highly effective for other manifestations of Lyme disease. More recent literature suggests that this entity is seen rarely, if at all. A chronic distal symmetric sensory neuropathy as a manifestation of late Lyme disease in North America should be regarded as controversial and in need of rigorous validation studies before acceptance as a documented clinical entity. PMID:27914746

State and regional tools for coordinating housing and transportation.

DOT National Transportation Integrated Search

2014-01-01

Federal, state, and local governments spend billions on transportation infrastructure and affordable : housing subsidies, but rarely with complete coordination. States and regional entities are pivotal in : shaping transportation and housing systems....

Streptococcal toxic shock syndrome after breast reconstruction.

PubMed

Agerson, Ashley N; Wilkins, Edwin G

2005-05-01

Streptococcal toxic shock syndrome (STSS) is an increasingly common disease entity but has rarely been described in the plastic surgery literature. We present the first known case of STSS associated with a reconstructive procedure. Two weeks postoperatively from a transverse rectus abdominis musculocutaneous flap for breast reconstruction, our patient presented with flulike symptoms and progressed rapidly to multiorgan failure. Though initially no nidus for infection was evident, the abdominal donor site was surgically debrided and found to contain group A Streptococcus. Following aggressive rehydration and antibiotic therapy, the patient gradually made a full recovery. In this case report, we review the presentation and epidemiology of STSS and compare it to the more common staphylococcal toxic shock syndrome. In addition, we discuss the management and outcomes of STSS, with an emphasis on raising clinical suspicion for this rare but dangerous entity.

Barium appendicitis after upper gastrointestinal imaging.

PubMed

Novotny, Nathan M; Lillemoe, Keith D; Falimirski, Mark E

2010-02-01

Barium appendicitis (BA) is a rarely seen entity with fewer than 30 reports in the literature. However, it is a known complication of barium imaging. To report a case of BA in a patient whose computed tomography (CT) scan was initially read as foreign body ingestion. An 18-year-old man presented with right lower quadrant pain after upper gastrointestinal imaging 2 weeks prior. A CT scan was obtained of his abdomen and pelvis that revealed a finding that was interpreted as a foreign body at the area of the terminal ileum. A plain X-ray study of the abdomen revealed radiopaque appendicoliths. Pathology confirmed the diagnosis of barium appendicitis. BA is a rare entity and the pathogenesis is unclear. Shorter intervals between barium study and presentation with appendicitis usually correlate with fewer complications. Copyright (c) 2010 Elsevier Inc. All rights reserved.

A rare case of atypical pleomorphic adenoma arising from periocular ectopic lacrimal gland.

PubMed

Wajda, Brynn N; Mancini, Ronald; Evers, Bret; Nick Hogan, R

2018-06-23

To describe features of atypical pleomorphic adenoma, a rare clinical entity, particularly when found in ectopic periocular lacrimal gland tissue. Case report of biopsy-confirmed periocular atypical pleomorphic adenoma. A 35-year-old female presented with a unique orbital lesion found to be ectopic lacrimal gland demonstrating atypical pleomorphic adenoma on formal histopathologic review. Pleomorphic adenoma is pathologically characterized as an epithelial lesion intermixed with mesenchymal elements. It is further classified as atypical with the presence of features such as hypercellularity, regions of necrosis or hyalinization, cellular dysplasia, capsular violation, and malignant characteristics without frank local extension or distant metastases. Due to its rarity, the natural history and prognosis of atypical pleomorphic adenoma is unclear. Physicians need to recognize this entity, and complete surgical excision with strict follow-up regimens are likely warranted.

Primary tubercular abscess of the breast – an unusual entity

PubMed Central

Gupta, R; Singal, RP; Gupta, A; Singal, S; Shahi, SR; Singal, R

2012-01-01

Primary breast tuberculosis manifested as abscess is a rare entity. We are reporting a case of primary breast tuberculosis, which presented as breast abscess. Abscess was drained and tissue sent for histopathology. To our surprise, diagnosis came as breast tuberculosis. Aspiration cytology was not done, as it is not a routine test for abscess cases. Patient was put on anti- tubercular drugs. In the follow-up of 6 months, she was asymptomatic and advised to continue medicine. PMID:22574095

A rare case of extra-nasopharyngeal angiofibroma of the septum in a female child.

PubMed

Singh, G B; Shukla, S; Kumari, P; Shukla, I

2018-02-01

Extra-nasopharyngeal angiofibroma is a rare but distinct clinical entity, different from juvenile angiofibroma. This clinical record elucidates the only case of extra-nasopharyngeal angiofibroma arising from the septum in a female child, who presented with epistaxis. The histopathological diagnosis was confirmed by immunohistochemistry, and the case was managed surgically with no recurrence. In a female paediatric patient presenting with epistaxis, extra-nasopharyngeal angiofibroma (of the inferior turbinate) is a rare albeit important differential diagnosis, as it challenges the hormonal theory of angiofibroma aetiopathogenesis.

Bilateral Ewing Sarcoma/Primitive Neuroectodermal Tumor of the Breast: A Very Rare Entity and Review of the Literature

PubMed Central

Majid, N.; Amrani, M.; Ghissassi, I.; El Cadi, M.; El Bouzidi, M.; El Kabous, M.; Kherbach, A.; Errihani, H.

2013-01-01

Peripheral primitive neuroectodermal tumors (PNET) are rare malignant tumors, affecting mostly children and adolescents and have been described in breast in eight case reports only. In this paper, we present a case of bilateral mammary ES/PNET where distinction between primary and metastatic diseases was discussed through a literature review. The aim of this work is to demonstrate that although rare, the possibility of PNET should be kept in mind while evaluating a palpable breast abnormality in a young female. PMID:23819085

Neonatal Intrathoracic Stomach without Gastric Volvulus.

PubMed

Bokka, Sriharsha; Mohanty, Manoj Kumar

2016-10-01

Intrathoracic stomach is a rare and serious congenital abnormality. The anomaly may be complicated by gastric volvulus and can lead to ischemic gastric infarction in the neonate. If diagnosed antenatally, neonatal management can be planned in advance so as to reduce morbidity. This anomaly must be differentiated from the more common congenital diaphragmatic hernia, as associated pulmonary hypoplasia is common in the latter and rare with gastric herniation. We report a case of intrathoracic stomach in a neonate without volvulus, fortunately a rare entity which was managed operatively, and the child has been under regular follow-up.

A Rare Case of Ileocecal Tuberculosis with Pulmonary Embolism and Deep Vein Thrombosis

PubMed Central

Henry, Tan Chor Lip; Ho, Choon Aik; Mohamad, Yuzaidi

2017-01-01

Venous thromboembolism in tuberculosis is not a well recognised entity. It is a less frequently reported complication of severe pulmonary tuberculosis. It is exceedingly rare when it complicates extrapulmonary tuberculosis. Here, we present a case of 22-year-old young female with abdominal tuberculosis complicated with reverse ileocecal intussusception, deep vein thrombosis and pulmonary embolism. An emergency vena cava filter was inserted prior to a limited right hemicolectomy. In this article, we discuss the rare association of venous thromboembolism with ileocecal tuberculosis. PMID:28892968

Infiltrating Ductal Carcinoma Co-Existing with Intraductal Papillary Carcinoma of Male Breast: A Rare Case Report.

PubMed

Kumar, Mayank; Pottipati, Bhaswanth; Arakeri, Surekha U; Javalgi, Anita P

2017-06-01

Male breast carcinomas are rare tumours, accounting for less than 1% of all malignancies in men. Intracystic Papillary Carcinoma (IPC) in males is a very rare entity, representing 5-7.5% of all male breast carcinomas. It lacks the classical clinical, radiological and cytological features of malignancy and usually presents as a benign-appearing lump. We report a case of Infiltrating Ductal Carcinoma (IDC) co-existing with intracystic papillary carcinoma in a 53-year-old male who presented with lump in the right breast.

Infiltrating Ductal Carcinoma Co-Existing with Intraductal Papillary Carcinoma of Male Breast: A Rare Case Report

PubMed Central

Pottipati, Bhaswanth; Arakeri, Surekha U.; Javalgi, Anita P.

2017-01-01

Male breast carcinomas are rare tumours, accounting for less than 1% of all malignancies in men. Intracystic Papillary Carcinoma (IPC) in males is a very rare entity, representing 5-7.5% of all male breast carcinomas. It lacks the classical clinical, radiological and cytological features of malignancy and usually presents as a benign-appearing lump. We report a case of Infiltrating Ductal Carcinoma (IDC) co-existing with intracystic papillary carcinoma in a 53-year-old male who presented with lump in the right breast. PMID:28764176

Aneurysmal Bone Cysts of the Spine: Two Case Reports

PubMed Central

Ozdemir, Seymen; Ozden, Ferhat; Kacira, Ozlem Kitiki; Kacira, Tibet

2014-01-01

Aneurysmal bone cysts are rare entities which causes expansile and destructive bone lesions characterized by reactive proliferation of connective tissue. They usually grow rapidly with hypervascularity. In clinical practice they can be easily misdiagnosed due to the rare occurance and having no such typical findings as radiologically. Most cases have uncommon pain symptoms, but rarely, if fractures occur, neurological findings can be seen and the surgical treatment, if needed, could be difficult. We will discuss our evaluations to two cases that we experienced in our clinic in this report. PMID:25620988

Aneurysmal bone cysts of the spine: two case reports.

PubMed

Ozdemir, Seymen; Yaldiz, Can; Ozden, Ferhat; Kacira, Ozlem Kitiki; Kacira, Tibet

2014-12-01

Aneurysmal bone cysts are rare entities which causes expansile and destructive bone lesions characterized by reactive proliferation of connective tissue. They usually grow rapidly with hypervascularity. In clinical practice they can be easily misdiagnosed due to the rare occurance and having no such typical findings as radiologically. Most cases have uncommon pain symptoms, but rarely, if fractures occur, neurological findings can be seen and the surgical treatment, if needed, could be difficult. We will discuss our evaluations to two cases that we experienced in our clinic in this report.

Parry-Romberg syndrome (progressive hemifacial atrophy) with spasmodic dysphonia--a rare association.

PubMed

Mugundhan, K; Selvakumar, C J; Gunasekaran, K; Thiruvarutchelvan, K; Sivakumar, S; Anguraj, M; Arun, S

2014-04-01

Parry-Romberg syndrome is a rare clinical entity characterised by progressive hemifacial atrophy with appearance of 'saber'. Various neurological and otorhinolaryngological disorders are associated with this syndrome. The association of Parry -Romberg syndrome with Spasmodic dysphonia has rarely been reported. A 37 year old female presented with progressive atrophy of tissues of left side of face for 10 years and change in voice for 1 year. On examination, wasting and atrophy of tissues including tongue was noted on left side of the face. ENT examination revealed adductor spasmodic dysphonia. We report the rare association of Parry -Romberg syndrome with spasmodic dysphonia.

Management of pulmonary toxicity associated with targeted anticancer therapies.

PubMed

Teuwen, Laure-Anne; Van den Mooter, Tom; Dirix, Luc

2015-01-01

Targeted anticancer therapies act by interfering with defined molecular entities and/or biologic pathways. Because of their more specific mechanism of action, adverse events (AEs) on healthy tissues are intended to be minimal, resulting in a different toxicity profile from that observed with conventional cytotoxic chemotherapy. Pulmonary AEs are rare but potentially life-threatening and it is, therefore, critical to recognize early on and manage appropriately. In this review, we aim to offer an overview of both more frequent and rare pulmonary AEs caused by targeted anticancer therapies and discuss possible treatment algorithms. Anti-vascular endothelial growth factor, anti-human epidermal growth factor receptor and anti-CD20 therapy will be reviewed, as well as immune checkpoint inhibitors, anaplastic lymphoma kinase inhibitors and mammalian target of rapamycin inhibitors. Novel agents used in the treatment of cancer have specific side-effects, the result of allergic reactions, on-target and off-target effects. Clinical syndromes associated with pulmonary toxicity vary from bronchospasms, hypersensitivity reactions, pneumonitis, acute respiratory distress, lung bleeding, pleural effusion to pneumothorax. Knowledge of risk factors, a high index of suspicion and a complete diagnostic work-up are essential for limiting the risk of these events becoming life threatening. The development of treatment algorithms is extremely helpful in managing these events. It is probable that these toxicities will be even more frequent with the introduction of combination therapies with the obvious challenge of discerning the responsible agent.

A case report of rapid spontaneous redistribution of acute supratentorial subdural hematoma to the entire spinal subdural space presenting as a Pourfour du Petit syndrome and review of the literature.

PubMed

Balik, Vladimir; Kolembus, Petr; Svajdler, Marian; Sulla, Igor; Vaverka, Miroslav; Hrabalek, Lumir

2013-07-01

This report illustrates the rare rapid spontaneous redistribution of an acute intracranial supratentorial subdural hematoma (AISSDH) to the entire spinal subdural space (SSS). The study is also unique in that the spinal subdural hematoma (SSH) manifested by the extremely rare Pourfour du Petit Syndrome (PPS). A 66-year-old man sustained blunt head trauma. On admission to the regional hospital, he scored 6 on GCS and his pupils were of equal size reacting to light. Initial computed tomography (CT) scan showed a unilateral AISSDH. The patient was referred to our department and arrived 16 h following the accident, at which time a repeat CT scan revealed almost complete resolution of the AISSDH without clinical improvement. On the 9th postinjury day transient anisocoria and tachycardia without spinal symptomatology developed. Since neither neurological examination nor follow-up CT scans showed intracranial pathology explaining the anisocoria, the patient was treated further conservatively. During the next 3 days circulatory instability developed and the patient succumbed to primary traumatic injury. Autopsy revealed a SSH occupying the entire SSS. This case calls attention to the unique combination of the displacement of an AISSDH to the SSS and the presentation of this clinical entity by the PPS. Copyright © 2012 Elsevier B.V. All rights reserved.

Craniofacial melorheostosis.

PubMed

McDermott, Meredith; Branstetter, Barton F; Seethala, Raja R

2008-01-01

Melorheostosis is a rare benign disease of cortical bone most frequently presenting as peripheral hyperostosis with a characteristic "melting wax" appearance on conventional radiographs. The disease most frequently affects the appendicular skeleton and is seen only rarely in the craniofacial bones. We discuss a case of melorheostosis in the nasal cavity and skull base with an atypical radiographic appearance and suggest findings that may differentiate craniofacial melorheostosis from more common entities in this region.

Primary Segmental Volvulus Mimicking Ileal Atresia

PubMed Central

Rao, Sadashiva; B Shetty, Kishan

2013-01-01

Neonatal intestinal volvulus in the absence of malrotation is a rare occurrence and rarer still is the intestinal volvulus in absence of any other predisposing factors. Primary segmental volvulus in neonates is very rare entity, which can have catastrophic outcome if not intervened at appropriate time. We report two such cases, which were preoperatively diagnosed as ileal atresia and intraoperatively revealed to be primary segmental volvulus of the ileum. PMID:26023426

Postoperative Gastric Perforation in a Newborn with Duodenal Atresia.

PubMed

Antabak, Anko; Bogović, Marko; Vuković, Jurica; Grizelj, Ruža; Babić, Vinka Barbarić; Papeš, Dino; Luetić, Tomislav

2016-01-01

Gastric perforation (GP) in neonates is a rare entity with high mortality. Although the etiology is not completely understood, it mostly occurs in premature neonates on assisted ventilation. Combination of duodenal atresia and gastric perforation is very rare. We present a case duodenal atresia who developed gastric perforation after operetion for duodenal atresia. Analysis of the patient medical record and histology report did not reveal the etiology of the perforation.

Multiple lymphomatous polyposis.

PubMed

Kadayifçi, A; Benekli, M; Savaş, M C; Arslan, S; Uzunalimoğlu, B; Barişta, I; Güllü, I H; Tekuzman, G

1997-04-01

Multiple lymphomatous polyposis (MLP) is a distinctive and particularly rare clinical type of malignant gastrointestinal lymphoma, which is classified as B-cell centrocytic non-Hodgkin's lymphoma. this rare entity has been recently reclassified as mantle cell lymphoma. We herein report three additional cases of MLP involving various segments of the gastrointestinal tract. MLP has an aggressive biologic behavior and a relatively poor prognosis and must be treated accordingly as a high-grade lymphoma with systemic chemotherapy.

Collagenous colitis in a patient with systemic sclerosis: a rare entity.

PubMed Central

Ekiz, Fuat; Coban, Sahin; Savas, Berna; Gören, Deniz; Ensari, Arzu; Ormeci, Necati

2007-01-01

Collagenous colitis has been associated with autoimmune diseases. Co-occurence of systemic sclerosis and collagenous colitis is particularly rare. Herein, we described a 65-year-old woman with systemic sclerosis whose diarrhea and abdominal cramping were due to collagenous colitis. We have reviewed the clinical and histopathological features of collagenous colitis with regard to its concomitance with systemic sclerosis. Images Figure 1 Figure 2 PMID:17595940

Two Different Views on the World Around Us: The World of Uniformity versus Diversity.

PubMed

Kwon, JaeHwan; Nayakankuppam, Dhananjay

2016-01-01

We propose that when individuals believe in fixed traits of personality (entity theorists), they are likely to expect a world of "uniformity." As such, they easily infer a population statistic from a small sample of data with confidence. In contrast, individuals who believe in malleable traits of personality (incremental theorists) are likely to presume a world of "diversity," such that they "hesitate" to infer a population statistic from a similarly sized sample. In four laboratory experiments, we found that compared to incremental theorists, entity theorists estimated a population mean from a sample with a greater level of confidence (Studies 1a and 1b), expected more homogeneity among the entities within a population (Study 2), and perceived an extreme value to be more indicative of an outlier (Study 3). These results suggest that individuals are likely to use their implicit self-theory orientations (entity theory versus incremental theory) to see a population in general as a constitution either of homogeneous or heterogeneous entities.

Simultaneous occurrence of a severe Morel-Lavallée lesion and gluteal muscle necrosis as a sequela of transcatheter angiographic embolization following pelvic fracture: a case report.

PubMed

Shimizu, Takayoshi; Matsuda, Shuichi; Sakuragi, Atsushi; Tsukie, Tomio; Kawanabe, Keiichi

2015-03-26

Morel-Lavallée lesions are posttraumatic hemolymphatic collections caused by disruption of the interfascial planes between the subcutaneous soft tissue and muscle. Severe peripelvic Morel-Lavallée lesions have rarely been reported in the literature. By contrast, a number of cases of gluteal muscle necrosis following transcatheter angiographic embolization for pelvic fracture have been reported. Each entity can result in severe infection and sepsis, and the mortality rate in such cases is quite high. However, to date, no previous reports have described a case in which these life-threatening entities occurred simultaneously. A 32-year-old Asian man simultaneously developed severe peripelvic Morel-Lavallée lesions and gluteal muscle necrosis with sepsis following transcatheter angiographic embolization after an unstable pelvic fracture. Extremely large skin and soft tissue defects, which were untreatable with any commonly used flaps, were generated after repeated debridement. In addition, a deep-bone infection was suspected in his left fractured iliac bone, while motor function was almost completely lost in his left leg, possibly as a sequela of transcatheter angiographic embolization. As a result of his condition, a left hemipelvectomy was unavoidable. A pedicled fillet flap from his sacrificed left limb was used for the treatment of the defects and to provide a durable base for a prosthesis. Our patient survived and returned to his previous job 24 months after the surgery wearing a prosthetic left leg. As illustrated by the present case, severe peripelvic Morel-Lavallée lesions and gluteal muscle necrosis following transcatheter angiographic embolization can occur simultaneously after unstable pelvic fractures. Physicians should recognize that these entities can result in life-threatening sepsis and, therefore, should attempt to detect them as early as possible. When hemipelvectomy is unavoidable, a pedicled upper and lower leg in-continuity fillet flap may provide satisfactory outcomes.

Patterns of uveitis in a tertiary eye care center in Iran.

PubMed

Soheilian, Masood; Heidari, Kumars; Yazdani, Shahin; Shahsavari, Mohsen; Ahmadieh, Hamid; Dehghan, Mohammad

2004-12-01

To identify the distribution and characteristics of new uveitis referrals to a tertiary eye care center in Tehran. A three-year prospective study was carried out to obtain information on 544 new patients referred with uveitis. A complete ophthalmologic examination was performed in all cases; a routine set of tests and an additional battery of directed workup were conducted when indicated. Mean age was 32.3 years. There was no significant sex predominance. The most common forms of uveitis were anterior (38.4%) vs. other anatomical forms, chronic (62.1%) vs. acute (28.3%), nongranulomatous (85.5%) vs. granulomatous (14.5%), and noninfectious (83.5%) vs. infectious (16.5%). With regard to etiology, 45.5% were idiopathic, 19.9% were due to specific ocular disease, and 37.3% were associated with systemic disorders. Behcet's disease was the most common noninfectious disease and toxoplasmosis the most common infectious entity. The most prevalent causes were idiopathic, Fuchs' heterochromic iridocylitis, and seronegative spondyloarthropathies in anterior uveitis; toxoplasmosis, Eales disease, and toxocariasis in posterior uveitis; idiopathic, sarcoidosis, and multiple sclerosis in intermediate uveitis; and, finally, Behcet's disease, idiopathic, and Vogt-Koyanagi-Harada syndrome in panuveitis. The most frequent cause in patients under 16 years of age was pars planitis. Over 80% of the patients belonged to middle-to-upper socioeconomic classes. Uveitis significantly affected patients' lives in 63.1% of the cases. Although the current study was performed at a referral center, it may reflect to some extent the different distribution of uveitis in Iran and probably other Middle Eastern countries. Some entities such as presumed ocular histoplasmosis were not found, cytomegalovirus retinitis and birdshot chorioretinopathy were extremely rare, and HLA-B27-associated iridocyclitis was less commonly observed. In contrast, Behcet's disease, Fuchs' heterochromic iridocyclitis, Eales disease, and toxocariasis were among the more prevalent entities.

Scalp Metastasis as the First Sign of Small-Cell Lung Cancer: Management and Literature Review

PubMed Central

Salemis, Nikolaos S.; Veloudis, Georgios; Spiliopoulos, Kyriakos; Nakos, Georgios; Vrizidis, Nikolaos; Gourgiotis, Stavros

2014-01-01

Cutaneous metastasis from primary visceral malignancy is a relatively uncommon clinical entity, with a reported incidence ranging from 0.22% to 10% among various series. However, the presence of cutaneous metastasis as the first sign of a clinically silent visceral cancer is exceedingly rare. We describe here a case of an asymptomatic male patient who presented with a solitary scalp metastasis as the initial manifestation of an underlying small-cell lung cancer. Diagnostic evaluation revealed advanced disease. We conclude that the possibility of metastatic skin disease should always be considered in the differential diagnosis in patients with a history of smoking or lung cancer presenting with cutaneous nodules. Physicians should be aware of this rare clinical entity, and appropriate investigation should be arranged for early diagnosis and initiation of the appropriate treatment. The prognosis for most patients remains poor. PMID:25058760

Scalp metastasis as the first sign of small-cell lung cancer: management and literature review.

PubMed

Salemis, Nikolaos S; Veloudis, Georgios; Spiliopoulos, Kyriakos; Nakos, Georgios; Vrizidis, Nikolaos; Gourgiotis, Stavros

2014-01-01

Cutaneous metastasis from primary visceral malignancy is a relatively uncommon clinical entity, with a reported incidence ranging from 0.22% to 10% among various series. However, the presence of cutaneous metastasis as the first sign of a clinically silent visceral cancer is exceedingly rare. We describe here a case of an asymptomatic male patient who presented with a solitary scalp metastasis as the initial manifestation of an underlying small-cell lung cancer. Diagnostic evaluation revealed advanced disease. We conclude that the possibility of metastatic skin disease should always be considered in the differential diagnosis in patients with a history of smoking or lung cancer presenting with cutaneous nodules. Physicians should be aware of this rare clinical entity, and appropriate investigation should be arranged for early diagnosis and initiation of the appropriate treatment. The prognosis for most patients remains poor.

Cytomorphology of unusual infectious entities in the Pap test

PubMed Central

Khalbuss, Walid E.; Michelow, Pam; Benedict, Cynthia; Monaco, Sara E.; Pantanowitz, Liron

2012-01-01

Rare entities in the Pap test, including neoplastic and non-neoplastic conditions, pose challenges due to their infrequent occurrence in the daily practice of cytology. Furthermore, these conditions give rise to important diagnostic pitfalls. Infections such as tuberculosis cervicitis may be erroneously diagnosed as carcinoma, whereas others, such as schistosomiasis, are associated with squamous cell carcinoma. These cases include granuloma inguinale (donovanosis), tuberculosis, coccidioidomycosis, schistosomiasis, taeniasis, and molluscum contagiosum diagnosed in Pap tests. Granuloma inguinale shows histiocytes that contain intracytoplasmic bacteria (Donovan bodies). Tuberculosis is characterized by necrotizing granulomatous inflammation with Langhans-multinucleated giant cells. Coccidioidomycosis may show large intact or ruptured fungal spherules associated with endospores. Schistosoma haematobium is diagnosed by finding characteristic ova with a terminal spine. Molluscum contagiosum is characterized by the appearance of squamous cells with molluscum bodies. This article reviews the cytomorphology of selected rare infections and focuses on their cytomorphology, differential diagnosis, and role of ancillary diagnostic studies. PMID:22919422

Postoperative Gastric Perforation in a Newborn with Duodenal Atresia

PubMed Central

Antabak, Anko; Bogović, Marko; Vuković, Jurica; Grizelj, Ruža; Babić, Vinka Barbarić; Papeš, Dino; Luetić, Tomislav

2016-01-01

Gastric perforation (GP) in neonates is a rare entity with high mortality. Although the etiology is not completely understood, it mostly occurs in premature neonates on assisted ventilation. Combination of duodenal atresia and gastric perforation is very rare. We present a case duodenal atresia who developed gastric perforation after operetion for duodenal atresia. Analysis of the patient medical record and histology report did not reveal the etiology of the perforation. PMID:27896170

Riedel thyroiditis: Fine needle aspiration findings of a rare entity.

PubMed

Weidner, Anna-Sophie; Molina, David; DeSimone, Robert A; Cohen, Marc A; Giorgadze, Tamar; Scognamiglio, Theresa; Hoda, Rana S

2015-09-01

Riedel thyroiditis is a rare fibrosing disorder characterized by extension of the fibroinflammatory process beyond the thyroid capsule. Due to the nature of this lesion, fine-needle aspiration often yields scant material and may be interpreted as non-diagnostic. In this report, we describe cytologic features that allow the cytopathologist to favor a diagnosis of Riedel thyroiditis, thereby guiding appropriate further work-up and management. © 2015 Wiley Periodicals, Inc.

A rare case of mycetoma due to curvularia.

PubMed

Shinde, Rupali S; Hanumantha, Sreedevi; Mantur, Basappa G; Parande, Mahantesh V

2015-01-01

Mycetoma due to Curvularia is a rare clinical entity. Here, we report a case of 27-year-old female presented with multiple swellings and discharging wounds around left shoulder joint since 12 years. Local examination showed diffuse nodular swellings over left anterior chest wall, posterior chest wall, and axilla. Multiple nodules and discharging sinuses were seen. Fungal culture of the biopsy of the lesion revealed Curvularia species. Patient showed significant clinical improvement with itraconazole therapy.

Diffuse corpus callosum infarction - Rare vascular entity with differing etiology.

PubMed

Mahale, Rohan; Mehta, Anish; Buddaraju, Kiran; John, Aju Abraham; Javali, Mahendra; Srinivasa, Rangasetty

2016-01-15

Infarctions of the corpus callosum are rare vascular events. It is relatively immune to vascular insult because of its rich vascular supply from anterior and posterior circulations of brain. Report of 3 patients with largely diffuse acute corpus callosum infarction. 3 patients with largely diffuse acute corpus callosum infarction were studied and each of these 3 patients had 3 different aetiologies. The 3 different aetiologies of largely diffuse acute corpus callosum infarction were cardioembolism, tuberculous arteritis and takayasu arteritis. Diffuse corpus callosum infarcts are rare events. This case series narrates the three different aetiologies of diffuse acute corpus callosum infarction which is a rare vascular event. Copyright © 2015 Elsevier B.V. All rights reserved.

Dupuytren in a Child: Rare Presentation of a Rare Clinical Entity.

PubMed

Spyropoulou, Georgia-Alexandra; Pavlidis, Leonidas; Milothridis, Panagiotis; Zaraboukas, Thomas; Demiri, Efterpi

2016-12-01

Dupuytren disease in children younger than 10 years is rare and only 8 histologically proven cases have been reported. A histologically proven Dupuytren disease in a 10-year-old with an uncommon clinical presentation as a nodule on the radial side of the middle phalanx of the little finger is documented. Dupuytren's disease should be in the differential diagnosis in cases of nodules and contractures in the palm and fingers of children. Copyright © 2016 American Society for Surgery of the Hand. Published by Elsevier Inc. All rights reserved.

Spontaneous Rupture of Adenocarcinoma of Meckel’s Diverticulum- A Rare Entity

PubMed Central

2015-01-01

Meckel’s diverticulum is a true diverticulum from remnant of vitelline duct. It is most common congenital anomaly of intestine. It is associated with intestinal atresia and anorectal anomalies. It contains heterotrophic epithelium. Most common heterotrophic mucosa is gastric followed by pancreatic tissue. Adenocarcinoma arising from Meckel’s diverticulum is very rare. Spontaneous perforation of adenocarcinoma rarely reported. Most of perforation reported in Meckel’s diverticulum diagnosed during intraoperative period. This is a case report of spontaneous rupture of adenocarcinoma of Meckel’s diverticulum, which was managed with primary resection and ileostomy. PMID:26672729

Auto immune hemolytic anemia in a child precipitated by chicken pox.

PubMed

Billoo, Samina Shamim; Jamalvi, Syed Waseem

2008-05-01

Auto Immune Hemolytic Anemia (AIHA) is a rare entity in children. We report a case of an adolescent girl with AIHA, which was precipitated by chicken pox. Clinical course over 3 years, till remission is described.

Philadelphia chromosome-positive lymphoblastic lymphoma-Is it rare or underdiagnosed?

PubMed

Alshomar, Ahmad; El Fakih, Riad

2018-06-15

Lymphoblastic lymphomas (LBLs) are neoplasms of precursor B and T cells; they are considered in the same spectrum as precursor B and T cell acute lymphoblastic leukemia (ALL). The World Health Organization classification classifies both LBL and ALL as one disease entity. While chromosome abnormalities are well defined with all of their therapeutic and prognostic implications in ALL, these are not well studied in LBL. Here, we describe a case of Philadelphia chromosome-positive LBL and review the available literature regarding this entity. Copyright © 2018. Published by Elsevier Ltd.

Clinics in diagnostic imaging (178). Wünderlich syndrome and pseudoaneurysm.

PubMed

Chung, Raymond; Chawla, Ashish; Peh, Wilfred Cg

2017-06-01

Wünderlich syndrome is a rare entity characterised by spontaneous retroperitoneal haemorrhage with renal origin. We present a case of Wünderlich syndrome secondary to clotting dyscrasia in a 64-year-old woman. The patient experienced a second Wünderlich haemorrhagic event with metachronous pseudoaneurysm formation, which was likely secondary to the large subcapsular haematoma stripping the renal capsule and tearing the cortical arteries. Selective pseudoaneurysm embolisations were successfully performed on both occasions. This clinical entity, its imaging differential diagnoses and management are discussed. Copyright: © Singapore Medical Association.

Managing the Financial Risks of Water Scarcity

NASA Astrophysics Data System (ADS)

Characklis, Greg; Foster, Ben; Kern, Jordan; Meyer, Eliot; Zeff, Harrison

2015-04-01

Environmental uncertainty poses a growing number of financial risks to society, with droughts, floods, extreme temperatures and violent storms imposing costs that approach 500 billion per year. While structural forms of mitigation (i.e. levees, dams) will certainly play a role in limiting financial impacts, these are large investments whose full value is only rarely realized. Furthermore, the value of such long-lived measures becomes increasingly uncertain in a changing climate, raising the issue of whether they will be effective 20-30 years hence. Financial instruments, such as index insurance, can provide increased flexibility by providing compensation for losses only when they occur, and limited contract periods allow terms to be periodically rewritten in response to changing conditions. Financial instruments can also be effectively combined with other economic tools and infrastructure to create integrated solutions in which infrastructure mitigates losses from moderate events, while financial products compensate for more rare, but extreme, events. There is a long history of environmentally-related insurance and hedging instruments, but to date the actuarial analyses that underlie contract structure and pricing have been based on straightforward observations, such as cumulative rainfall. More recently, simple correlations between two time series have been used to develop index-based contracts. Links between temperature and electricity demand, for example, provide a basis for contracts that are used to limit the financial exposure of power generators to low revenues during unseasonably warm winters or cool summers. Unfortunately, few environmental risks can be so quickly and easily linked to a financial impact. However, with a more advanced understanding of the environmental systems that give rise to financial losses, opportunities exist to develop innovative contracts for a range of new applications. Recent research describes the characterization and mitigation of financial losses experienced by such entities as water utilities, hydropower producers and inland shipping firms as a result of water scarcity, all of which suggest a growing role for financial instruments in managing environmental risk.

Overuse injuries of the upper extremity in the competitive athlete: magnetic resonance imaging findings associated with repetitive trauma.

PubMed

Banks, Kevin P; Ly, Justin Q; Beall, Douglas P; Grayson, David E; Bancroft, Laura W; Tall, Michael A

2005-01-01

Overuse injuries are a very common cause of pain in athletes, accounting for a significant loss of training time and missed competitions. Magnetic resonance imaging (MRI) is playing an increasing role in facilitating the expeditious and safe return of these individuals to their preinjury level of physical performance by allowing accurate diagnosis. Sports physicians are increasingly relying on the exquisite anatomic detail afforded by this technique to formulate diagnoses that assist with the optimal management of these athletic injuries. Some upper extremity overuse entities are well recognized; two examples are medial epicondylitis, classically appearing in baseball pitchers, and lateral epicondylitis, in tennis players. Other less well-known injuries of the upper extremity, such as intersection syndrome in rowers and distal clavicular stress fractures in weightlifters, are frequent occurrences in certain circles of athletes. The following article is a pictorial review of the MRI findings of upper extremity overuse injuries encountered in the competitive athlete, with an emphasis on the sports scenarios in which they occur. We will depict mechanisms of injury and applicable anatomy and show characteristic imaging findings. A wide range of entities are addressed, including but not limited to overuse injuries occurring in baseball, swimming, gymnastics, weightlifting, bowling, and cycling.

Rare events modeling with support vector machine: Application to forecasting large-amplitude geomagnetic substorms and extreme events in financial markets.

NASA Astrophysics Data System (ADS)

Gavrishchaka, V. V.; Ganguli, S. B.

2001-12-01

Reliable forecasting of rare events in a complex dynamical system is a challenging problem that is important for many practical applications. Due to the nature of rare events, data set available for construction of the statistical and/or machine learning model is often very limited and incomplete. Therefore many widely used approaches including such robust algorithms as neural networks can easily become inadequate for rare events prediction. Moreover in many practical cases models with high-dimensional inputs are required. This limits applications of the existing rare event modeling techniques (e.g., extreme value theory) that focus on univariate cases. These approaches are not easily extended to multivariate cases. Support vector machine (SVM) is a machine learning system that can provide an optimal generalization using very limited and incomplete training data sets and can efficiently handle high-dimensional data. These features may allow to use SVM to model rare events in some applications. We have applied SVM-based system to the problem of large-amplitude substorm prediction and extreme event forecasting in stock and currency exchange markets. Encouraging preliminary results will be presented and other possible applications of the system will be discussed.

Giant retroperitoneal liposarcoma with mixed histological pattern: a rare presentation and literature review.

PubMed

Salemis, Nikolaos S; Tsiambas, Evangelos; Karameris, Andreas; Tsohataridis, Efstathios

2009-01-01

Retroperitoneal liposarcoma is a rare tumor that may grow to a considerable size before causing clinical symptoms. Mixed-type retroperitoneal liposarcoma is a very rare clinical entity. We herein describe a rare case of a 54-year-old female who was diagnosed with a giant retroperitoneal liposarcoma arising from the right perinephric space. Radical nephrectomy and right salpingo-oophorectomy were necessary to achieve complete tumor excision. Histological examination revealed a mixed-type liposarcoma consisting of well-differentiated and pleomorphic elements and deep invasion into the renal parenchyma, which is quite infrequent. The patient was well and disease-free 12 months after surgery. Mixed-type retroperitoneal liposarcoma is a rare tumor. Aggressive surgical resection of the tumor together with adjacent structures, if necessary, is the mainstay of treatment.

Myopericytoma of skin and soft tissues: clinicopathologic and immunohistochemical study of 54 cases.

PubMed

Mentzel, Thomas; Dei Tos, Angelo P; Sapi, Zoltan; Kutzner, Heinz

2006-01-01

Perivascular neoplasms comprise traditionally glomus tumor and hemangiopericytoma (HPC). Whereas glomus tumor represents a well-defined entity, the existence of HPC as a separate entity has been questioned because a number of neoplasms of different lines of differentiation are characterized by a HPC-like vascular growth pattern. Myopericytoma represents a recently delineated entity showing a HPC-like vascular pattern. A large series of myopericytoma of skin and soft tissues has been analyzed to further characterize the clinicopathologic spectrum of this entity. Fifty-four cases of myopericytoma of skin and soft tissues were retrieved and the histology reviewed. Immunohistochemical stainings using alpha-smooth muscle actin (ASMA), desmin, and h-caldesmon antibodies were performed, and clinical data and follow-up information were obtained from referring pathologists. Thirty-four patients were male and 18 were female (gender was unknown in 2 cases). Patient age ranged from 13 to 87 years (median, 52 years). The lower extremities were most commonly affected (26 cases) followed by the upper extremities (16 cases), the head and neck region (4 cases), and the trunk (2 cases); exact location was unknown in 5 cases. In 20 cases, the neoplasms were confined to the dermis, in 6 cases an extension into the subcutis was seen, and 24 as well as 4 cases arose in subcutaneous and deep soft tissue, respectively. Two cases were multicentric; and in 1 of these patients, multiple anatomic regions were involved. Histologically, in all cases, numerous thin-walled vessels and a concentric, perivascular arrangement of ovoid, plump spindled to round myoid tumor cells was seen. However, a broad morphologic spectrum ranging from hypocellular, fibroma-like (3 cases), myofibroma-like (2 cases), angioleiomyoma-like (12 cases), and HPC-like neoplasms (13 cases) to classic myopericytomas (14 cases) and immature, cellular lesions (2 cases) was noted. In addition, 2 neoplasms with focal glomoid features, 5 intravascular, and 1 malignant myopericytomas were found. Prominent cytologic atypia and increased proliferative activity (>3 mitoses/10 high power fields) was seen in 4 and 2 cases, respectively. Immunohistochemically, all cases tested stained positively for ASMA. In addition, 29 of 32 cases tested stained positively for h-caldesmon, whereas desmin was only focally positive in 3 of 33 cases. Follow-up information was available in 46 cases (range, 7-168 months; median, 48 months). Despite marginal or incomplete excision in 23 of 46 cases, only 2 neoplasms (1 malignant and 1 intravascular myopericytoma) recurred locally (within 1 and 4 years, respectively). Despite overlapping morphologic features to angioleiomyoma and myofibroma, myopericytoma represents a distinct perivascular, myoid neoplasm of skin and soft tissues, characterized by a broad morphologic spectrum of concentrically, perivascularly growing myoid tumor cells that stain positively for ASMA and often for h-caldesmon, whereas desmin is usually negative. Most cases of myopericytoma behave in a benign fashion, but local recurrences and rarely metastases may occur in atypical and malignant neoplasms.

Game among interdependent networks: The impact of rationality on system robustness

NASA Astrophysics Data System (ADS)

Fan, Yuhang; Cao, Gongze; He, Shibo; Chen, Jiming; Sun, Youxian

2016-12-01

Many real-world systems are composed of interdependent networks that rely on one another. Such networks are typically designed and operated by different entities, who aim at maximizing their own payoffs. There exists a game among these entities when designing their own networks. In this paper, we study the game investigating how the rational behaviors of entities impact the system robustness. We first introduce a mathematical model to quantify the interacting payoffs among varying entities. Then we study the Nash equilibrium of the game and compare it with the optimal social welfare. We reveal that the cooperation among different entities can be reached to maximize the social welfare in continuous game only when the average degree of each network is constant. Therefore, the huge gap between Nash equilibrium and optimal social welfare generally exists. The rationality of entities makes the system inherently deficient and even renders it extremely vulnerable in some cases. We analyze our model for two concrete systems with continuous strategy space and discrete strategy space, respectively. Furthermore, we uncover some factors (such as weakening coupled strength of interdependent networks, designing a suitable topology dependence of the system) that help reduce the gap and the system vulnerability.

Review of crisis resource management (CRM) principles in the setting of intraoperative malignant hyperthermia.

PubMed

Isaak, Robert Scott; Stiegler, Marjorie Podraza

2016-04-01

The practice of medicine is characterized by routine and typical cases whose management usually goes according to plan. However, the occasional case does arise which involves rare catastrophic emergencies, such as intraoperative malignant hyperthermia (MH), which require a comprehensive, coordinated, and resource-intensive treatment plan. Physicians are expected to provide expert quality care for routine, typical cases, but is it reasonable to expect the same standard of expertise and comprehensive management when the emergency involves a rare entity? Although physicians would like to say yes to this question, the reality is that no physician will ever amass the amount of experience in patient care needed to truly qualify as an expert in the management of a rare emergency entity, such as MH. However, physicians can become expert in the global process of managing emergencies by using the principles of crisis resource management (CRM). In this article, we review the key concepts of CRM, using a real life example of a team who utilized CRM principles to successfully manage an intraoperative MH crisis, despite there being no one on the team who had ever previously encountered a true MH crisis.

CT and MR imaging features in phosphaturic mesenchymal tumor-mixed connective tissue: A case report

PubMed Central

Shi, Zhenshan; Deng, Yiqiong; Li, Xiumei; Li, Yueming; Cao, Dairong; Coossa, Vikash Sahadeo

2018-01-01

Phosphaturic mesenchymal tumor-mixed connective tissue (PMT-MCT) is rare and usually benign and slow-growing. The majority of these tumors is associated with sporadic tumor-induced osteomalacia (TIO) or rickets, affect middle-aged individuals and are located in the extremities. Previous imaging studies often focused on seeking the causative tumors of TIO, not on the radiological features of these tumors, especially magnetic resonance imaging (MRI) features. PMT-MCT remains a largely misdiagnosed, ignored or unknown entity by most radiologists and clinicians. In the present case report, a review of the known literature of PMT-MCT was conducted and the CT and MRI findings from three patient cases were described for diagnosing the small subcutaneous tumor. Typical MRI appearances of PMT-MCT were isointense relative to the muscles on T1-weighted imaging, and markedly hyperintense on T2-weighted imaging containing variably flow voids, with markedly heterogeneous/homogenous enhancement on post contrast T1-weighted fat-suppression imaging. Short time inversion recovery was demonstrated to be the optimal sequence in localizing the tumor. PMID:29552133

CT and MR imaging features in phosphaturic mesenchymal tumor-mixed connective tissue: A case report.

PubMed

Shi, Zhenshan; Deng, Yiqiong; Li, Xiumei; Li, Yueming; Cao, Dairong; Coossa, Vikash Sahadeo

2018-04-01

Phosphaturic mesenchymal tumor-mixed connective tissue (PMT-MCT) is rare and usually benign and slow-growing. The majority of these tumors is associated with sporadic tumor-induced osteomalacia (TIO) or rickets, affect middle-aged individuals and are located in the extremities. Previous imaging studies often focused on seeking the causative tumors of TIO, not on the radiological features of these tumors, especially magnetic resonance imaging (MRI) features. PMT-MCT remains a largely misdiagnosed, ignored or unknown entity by most radiologists and clinicians. In the present case report, a review of the known literature of PMT-MCT was conducted and the CT and MRI findings from three patient cases were described for diagnosing the small subcutaneous tumor. Typical MRI appearances of PMT-MCT were isointense relative to the muscles on T1-weighted imaging, and markedly hyperintense on T2-weighted imaging containing variably flow voids, with markedly heterogeneous/homogenous enhancement on post contrast T1-weighted fat-suppression imaging. Short time inversion recovery was demonstrated to be the optimal sequence in localizing the tumor.

Hepatic perivascular epithelioid cell tumor treated by transarterial embolization plus radiofrequency ablation: A case report and literature review.

PubMed

Guan, Haitao; Zou, Yinghua; Lv, Yongxing; Wang, Chao

2017-06-01

Perivascular epithelioid cell tumors (PEComas) are extremely rare mesenchymal entities with potentially malignant properties; the liver cases are not encountered frequently. Owing to themalignant potential, these tumors are treated by surgical methods to ensure total resection. In the present report, a case of liver PEComa treated by embolization combined with radiofrequency ablation (RFA) has been described. A 40-year-old female was admitted for the detection of a liver mass during an annual physical examination. The patient did not have any liver disease background, enhanced computed tomography (CT), and magnetic resonance revealed a huge mass in the right lobe. Pathology gave the diagnosis of PEComa, for disagreement of open surgery, a combination of transarterial embolization (TAE) and RFA were applied for treatment and the outcomes were acceptable, the patient was under follow-up to observe the long-term effect. Interventional procedures such as TAE and RFA are feasible and effective for such lesions and may serve as an alternate when resection is not indicated. Prospective studies are warranted to verify the long-term outcomes.

Activity of single-agent decitabine in atypical chronic myeloid leukemia.

PubMed

Hausmann, Heidi; Bhatt, Vijaya R; Yuan, Ji; Maness, Lori J; Ganti, Apar K

2016-12-01

Atypical chronic myeloid leukemia is a rare entity that presents diagnostic and therapeutic challenges. Traditionally utilized therapeutic agents such as hydroxyurea or interferon result in a median survival of approximately two years, thus warranting identification of better options. We report a 49-year-old Caucasian female, who presented with extreme leukocytosis (white blood cells of 148,300/µL) with left shift, severe anemia, and thrombocytopenia. Following a diagnosis of atypical chronic myeloid leukemia, she was started on intravenous decitabine. She subsequently developed paraneoplastic vasculitis of large arteries, which responded to high-dose glucocorticoid. Decitabine therapy resulted in an excellent hematologic response, transfusion independence, and successful transition to an allogeneic peripheral stem cell transplantation. However, the patient subsequently succumbed to the complications of acute graft-versus-host-disease. This case illustrates an association between atypical chronic myeloid leukemia and steroid-responsive paraneoplastic vasculitis and highlights the single-agent disease activity of decitabine in atypical chronic myeloid leukemia, which may be utilized as a bridging therapy to allogeneic stem cell transplantation. © The Author(s) 2015.

Cytology of primary vaginal melanoma: An unusual report on fine needle aspiration.

PubMed

Agarwal, Poojan; Kaushal, Manju

2017-03-01

Primary malignant melanoma of the vagina is an extremely uncommon malignancy comprising of less than 10% malignancies of the female genital tract and 0.3% of all melanomas. Melanoblasts are neural crest derivatives and are notorious for causing primary cutaneous neoplasms. However, they involve virtually every organ of the body including eye, intestines and ocular mucosa, probably due to aberrancies in cell migration. Vagina is a rare site and primary melanoma of the vagina occurs in postmenopausal women with vaginal discharge, bleeding, or mass as common presenting complaints. Only a handful of case reports are available describing this entity on biopsy and PAP smear samples; however, fine needle aspiration has seldom been discussed. In the present report we discuss a case of an elderly female who complained of mass protruding through the vaginal opening, FNAC was done from the mass as well as from the right inguinal lymph node. An extensive clinicoradiological workup, and immunohistochemical confirmation is essential to rule out metastatic lesions and confirm primary. Diagn. Cytopathol. 2017;45:252-256. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Neuronal migration disorders in microcephalic osteodysplastic primordial dwarfism type I/III.

PubMed

Juric-Sekhar, Gordana; Kapur, Raj P; Glass, Ian A; Murray, Mitzi L; Parnell, Shawn E; Hevner, Robert F

2011-04-01

Microcephalic osteodysplastic primordial dwarfism (MOPD) is a rare microlissencephaly syndrome, with at least two distinct phenotypic and genetic types. MOPD type II is caused by pericentrin mutations, while types I and III appear to represent a distinct entity (MOPD I/III) with variably penetrant phenotypes and unknown genetic basis. The neuropathology of MOPD I/III is little understood, especially in comparison to other forms of lissencephaly. Here, we report postmortem brain findings in an 11-month-old female infant with MOPD I/III. The cerebral cortex was diffusely pachygyric, with a right parietal porencephalic lesion. Histologically, the cortex was abnormally thick and disorganized. Distinct malformations were observed in different cerebral lobes, as characterized using layer-specific neuronal markers. Frontal cortex was severely disorganized and coated with extensive leptomeningeal glioneuronal heterotopia. Temporal cortex had a relatively normal 6-layered pattern, despite cortical thickening. Occipital cortex was variably affected. The corpus callosum was extremely hypoplastic. Brainstem and cerebellar malformations were also present, as well as old necrotic foci. Findings in this case suggest that the cortical malformation in MOPD I/III is distinct from other forms of pachygyria-lissencephaly.

Clinical Profile and Prognosis of Left Ventricular Apical Aneurysm in Hypertrophic Cardiomyopathy.

PubMed

Xiao, Yan; Wang, Lin-Ping; Yang, Yan-Kun; Tian, Tao; Yang, Kun-Qi; Sun, Xin; Jiang, Yong; Liu, Ya-Xin; Zhou, Xian-Liang; Li, Jian-Jun

2016-01-01

Hypertrophic cardiomyopathy with left ventricular apical aneurysm is a unique entity with diverse manifestations and varied prognoses among races. This study evaluated the prevalence, clinical characteristics and outcomes of apical aneurysm in Chinese patients with hypertrophic cardiomyopathy. Consecutive patients with apical aneurysm were recruited from 1,844 patients with HCM treated at our hospital from 2002-2013. Basic clinical data and follow-up data were collected and analyzed. Apical aneurysm was identified in 24 patients (1.3%) (mean age: 52 ± 14 years). We identified an hourglass-shaped (71%) or distally hypertrophic (29%) left ventricle and found mural thrombi and nonsustained and sustained ventricular tachycardia in 11 (46%), 4 (17%) and 9 (38%) patients, respectively. During follow-up (5.0 ± 3.4 years [range: 1-14 years]), following were the clinical adverse events experienced by 14 patients (58%) (annual rate: 11.7%): sudden cardiac death (n = 4), appropriate discharge of an implantable cardioverter-defibrillator (n = 4), progressive heart failure (n = 4) or heart failure-related death (n = 1) and stroke (n = 4). The 4 patients who underwent aneurysmectomy had no adverse events. Patients with SCD had a lower ejection fraction (P = 0.004) and a larger left ventricular end-diastolic diameter (P < 0.001) than nonoperated survivors. Apical aneurysm is not rare in patients with HCM and it confers an extremely poor prognosis. Early aggressive therapies should be considered for this entity and prophylactic aneurysmectomy may be an option. Copyright © 2016 Southern Society for Clinical Investigation. Published by Elsevier Inc. All rights reserved.

Acute Esophageal Necrosis: An Update

PubMed Central

Inayat, Faisal; Hurairah, Abu; Virk, Hafeez Ul Hassan

2016-01-01

Acute esophageal necrosis (AEN) or “black esophagus” is a rare clinical entity with an unclear etiology. It is diagnosed at upper gastrointestinal endoscopy with the presence of strikingly black necrotic esophagus. The treatment is primarily medical, but the prognosis is generally poor due to advanced age and comorbid illnesses in patients who develop AEN. Herein, we discussed the implications of poor glycemic control in regards with AEN and undertook a literature review of this rare diagnosis. PMID:27583242

Percutaneous intervention of chronic total occlusion of anomalous right coronary artery originating from left sinus – Use of mother and child technique using guideliner

PubMed Central

Senguttuvan, Nagendra Boopathy; Sharma, Samin K.; Kini, Annapoorna

2015-01-01

Anomalous origin of right coronary artery (RCA) from left sinus is a rare clinical entity. Percutaneous coronary intervention of such an anomalous RCA, which is chronically occluded, is difficult and is rarely described. We describe such an intervention in a patient, who had a chronic total occlusion of anomalous RCA and discuss the technical issues associated with such interventions. PMID:26995429

Primary immunodeficiencies appearing as combined lymphopenia, neutropenia, and monocytopenia.

PubMed

Dotta, Laura; Badolato, Raffaele

2014-10-01

Recurrent or prolonged severe infections associated to panleukopenia strongly suggest primary immune disorders. In recent years, new immunodeficiency syndromes turned up: besides the importance of continuous clinical characterization throughout added reports, the phenotype can easily lead to diagnosis of known rare entities. Our purpose is to review main emerging genetic syndromes featuring lymphopenia combined to neutropenia and/or monocytopenia in order to facilitate diagnosis of rare primary immune deficiencies. Copyright © 2013 Elsevier B.V. All rights reserved.

Polygenic determinants in extremes of high-density lipoprotein cholesterol[S

PubMed Central

Dron, Jacqueline S.; Wang, Jian; Low-Kam, Cécile; Khetarpal, Sumeet A.; Robinson, John F.; McIntyre, Adam D.; Ban, Matthew R.; Cao, Henian; Rhainds, David; Dubé, Marie-Pierre; Rader, Daniel J.; Lettre, Guillaume; Tardif, Jean-Claude

2017-01-01

HDL cholesterol (HDL-C) remains a superior biochemical predictor of CVD risk, but its genetic basis is incompletely defined. In patients with extreme HDL-C concentrations, we concurrently evaluated the contributions of multiple large- and small-effect genetic variants. In a discovery cohort of 255 unrelated lipid clinic patients with extreme HDL-C levels, we used a targeted next-generation sequencing panel to evaluate rare variants in known HDL metabolism genes, simultaneously with common variants bundled into a polygenic trait score. Two additional cohorts were used for validation and included 1,746 individuals from the Montréal Heart Institute Biobank and 1,048 individuals from the University of Pennsylvania. Findings were consistent between cohorts: we found rare heterozygous large-effect variants in 18.7% and 10.9% of low- and high-HDL-C patients, respectively. We also found common variant accumulation, indicated by extreme polygenic trait scores, in an additional 12.8% and 19.3% of overall cases of low- and high-HDL-C extremes, respectively. Thus, the genetic basis of extreme HDL-C concentrations encountered clinically is frequently polygenic, with contributions from both rare large-effect and common small-effect variants. Multiple types of genetic variants should be considered as contributing factors in patients with extreme dyslipidemia. PMID:28870971

Polygenic determinants in extremes of high-density lipoprotein cholesterol.

PubMed

Dron, Jacqueline S; Wang, Jian; Low-Kam, Cécile; Khetarpal, Sumeet A; Robinson, John F; McIntyre, Adam D; Ban, Matthew R; Cao, Henian; Rhainds, David; Dubé, Marie-Pierre; Rader, Daniel J; Lettre, Guillaume; Tardif, Jean-Claude; Hegele, Robert A

2017-11-01

HDL cholesterol (HDL-C) remains a superior biochemical predictor of CVD risk, but its genetic basis is incompletely defined. In patients with extreme HDL-C concentrations, we concurrently evaluated the contributions of multiple large- and small-effect genetic variants. In a discovery cohort of 255 unrelated lipid clinic patients with extreme HDL-C levels, we used a targeted next-generation sequencing panel to evaluate rare variants in known HDL metabolism genes, simultaneously with common variants bundled into a polygenic trait score. Two additional cohorts were used for validation and included 1,746 individuals from the Montréal Heart Institute Biobank and 1,048 individuals from the University of Pennsylvania. Findings were consistent between cohorts: we found rare heterozygous large-effect variants in 18.7% and 10.9% of low- and high-HDL-C patients, respectively. We also found common variant accumulation, indicated by extreme polygenic trait scores, in an additional 12.8% and 19.3% of overall cases of low- and high-HDL-C extremes, respectively. Thus, the genetic basis of extreme HDL-C concentrations encountered clinically is frequently polygenic, with contributions from both rare large-effect and common small-effect variants. Multiple types of genetic variants should be considered as contributing factors in patients with extreme dyslipidemia. Copyright © 2017 by the American Society for Biochemistry and Molecular Biology, Inc.

Case report: severe melorheostosis involving the ipsilateral extremities.

PubMed

Long, Hai-Tao; Li, Kang-Hua; Zhu, Yong

2009-10-01

Melorheostosis is a rare, noninheritable bone dysplasia characterized by its classic radiographic feature of flowing hyperostosis resembling dripping candle wax, generally on one side of the long bone. The condition originally was described by Leri and Joanny in 1922. Its etiology remains speculative, and treatment in most instances has been symptomatic. Melorheostosis usually affects one limb, more often the lower extremity, and rarely the axial skeleton. We report a rare case of severe melorheostosis in the ipsilateral upper and lower extremities with normal contralateral extremities. The plain radiographs revealed almost all the bones in the affected extremities, from clavicle and scapula to distal phalanges of the fingers and from femur to distal phalanges of the toes, presented extensive, dense hyperostosis and heterotopic ossification in the periarticular soft tissue. Physical examination showed considerable swelling and deformities of the left limbs, stiffness and distortion of the joints, and anesthesia in the left ulnar regions of the forearm and hand. The examination of the right side was normal. Computed tomography scans showed multiple areas of classic candle wax-like hyperostosis and narrowing or disappearance of the medullary cavity. Histologic analysis confirmed the clinical and imaging diagnosis and revealed extremely dense sclerotic bone of cortical pattern.

Avascular Necrosis of the Capitate

PubMed Central

Bekele, Wosen; Escobedo, Eva; Allen, Robert

2011-01-01

Avascular necrosis of the capitate is a rare entity. The most common reported etiology is trauma. We report a case of avascular necrosis of the capitate in a patient with chronic wrist pain that began after a single episode of remote trauma. PMID:22470799

A rare pleural mucinous cystadenocarcinoma mimicking loculated empyema initially: A case report

PubMed Central

Moon, Sung Min; Seon, Hyun Ju; Choi, Yoo-Duk; Song, Sang-Yun

2013-01-01

We report a case of pleural mucinous cystadenocarcinoma which was mistaken to be a loculated empyema on chest CT. To the best of our knowledge, this entity has never been previously reported in literature. PMID:24604931

Acute non-traumatic spinal subdural haematoma: an unusual aetiology.

PubMed

Seizeur, Romuald; Ahmed, Seddik Sid; Simon, Alexandre; Besson, Gérard; Forlodou, Pierre

2009-06-01

We report an unusual case of a spinal subdural haematoma associated with a ruptured spinal aneurysm. The delayed diagnosis or misdiagnosis of this rare entity can have disastrous consequences. We discuss various possible aetiologies and its association with spinal aneurysms.

[Epithelioid hemangioendothelioma: an uncommon liver tumor].

PubMed

Pareja, Eugenia; Cortés, Miriam; Rayon, Miguel; Moya, Angel; Mir, Jose

2010-01-01

We report the case of a female patient who was referred to our unit because of a solid liver tumor, suggestive of metastasis. After biopsy, the patient was diagnosed with epithelioid hemangioendothelioma of the liver. Epithelioid hemangioendothelioma is a rare entity with an unpredictable, potentially fatal, clinical course and outcome. Due to its rarity, this entity should be considered when a solitary hepatic lesion is detected and should be included in the differential diagnosis with liver metastases. We highlight the infrequency of this tumor, its presentation as a solitary hepatic lesion and the indication of surgical treatment. We describe the clinical and pathological characteristics of epithelioid hemangioendothelioma of the liver and report a new case of this entity. The distinct therapeutic options are discussed. Copyright 2010 Elsevier España, S.L. All rights reserved.

Disease named entity recognition by combining conditional random fields and bidirectional recurrent neural networks.

PubMed

Wei, Qikang; Chen, Tao; Xu, Ruifeng; He, Yulan; Gui, Lin

2016-01-01

The recognition of disease and chemical named entities in scientific articles is a very important subtask in information extraction in the biomedical domain. Due to the diversity and complexity of disease names, the recognition of named entities of diseases is rather tougher than those of chemical names. Although there are some remarkable chemical named entity recognition systems available online such as ChemSpot and tmChem, the publicly available recognition systems of disease named entities are rare. This article presents a system for disease named entity recognition (DNER) and normalization. First, two separate DNER models are developed. One is based on conditional random fields model with a rule-based post-processing module. The other one is based on the bidirectional recurrent neural networks. Then the named entities recognized by each of the DNER model are fed into a support vector machine classifier for combining results. Finally, each recognized disease named entity is normalized to a medical subject heading disease name by using a vector space model based method. Experimental results show that using 1000 PubMed abstracts for training, our proposed system achieves an F1-measure of 0.8428 at the mention level and 0.7804 at the concept level, respectively, on the testing data of the chemical-disease relation task in BioCreative V.Database URL: http://219.223.252.210:8080/SS/cdr.html. © The Author(s) 2016. Published by Oxford University Press.

Two Different Views on the World Around Us: The World of Uniformity versus Diversity

PubMed Central

Nayakankuppam, Dhananjay

2016-01-01

We propose that when individuals believe in fixed traits of personality (entity theorists), they are likely to expect a world of “uniformity.” As such, they easily infer a population statistic from a small sample of data with confidence. In contrast, individuals who believe in malleable traits of personality (incremental theorists) are likely to presume a world of “diversity,” such that they “hesitate” to infer a population statistic from a similarly sized sample. In four laboratory experiments, we found that compared to incremental theorists, entity theorists estimated a population mean from a sample with a greater level of confidence (Studies 1a and 1b), expected more homogeneity among the entities within a population (Study 2), and perceived an extreme value to be more indicative of an outlier (Study 3). These results suggest that individuals are likely to use their implicit self-theory orientations (entity theory versus incremental theory) to see a population in general as a constitution either of homogeneous or heterogeneous entities. PMID:27977788

Nasal Septal Angiofibroma in a Post-Menopausal Woman: A Rare Entity

PubMed Central

Dayana, Farah; Fadzilah, Fazalina Mohd; Gendeh, Balwant Singh

2015-01-01

Juvenile angiofibromas (JAs) are well-characterised in literature, arising typically in the posterolateral wall of the nasal cavity of young males. Numerous theories have been proposed to explain the occurrence of this unique and rare tumour. Angiofibromas originating in other sites within the head and neck have been described but this is exceedingly rare, constituting less than 2% of all diagnosed cases. Extranasopharyngeal angiofibroma is a rare lesion, and more importantly, controversial. It is not known whether it is actually a relative of the well-known JA that is seen exclusively in adolescent males. We present the case of a post-menopausal woman with unilateral nasal obstruction who was unexpectedly diagnosed as nasal septal angiofibroma. PMID:26816925

Rare cancers in children - The EXPeRT Initiative: a report from the European Cooperative Study Group on Pediatric Rare Tumors.

PubMed

Bisogno, G; Ferrari, A; Bien, E; Brecht, I B; Brennan, B; Cecchetto, G; Godzinski, J; Orbach, D; Reguerre, Y; Stachowicz-Stencel, T; Schneider, D T

2012-10-01

The low incidence and the heterogeneity of very rare tumors (VRTs) demand for international cooperation. In 2008, EXPeRT (European Cooperative Study Group for Pediatric Rare Tumors) was founded by national groups from Italy, France, United Kingdom, Poland and Germany. The first aims of EXPeRT were to agree on a uniform definition of VRTs and to develop the currently most relevant scientific questions. Current initiatives include international data exchange, retrospective and prospective studies of specific entities, and the development of harmonized and internationally recognized guidelines. Moreover, EXPeRT established a network for expert consultation to assist in clinical decision in VRTs. © Georg Thieme Verlag KG Stuttgart · New York.

A comprehensive review on Primary gallbladder tuberculosis.

PubMed

Gupta, Ashish; Gupta, Amit; Anjum, Rohik; Agrawal, Saumya; Mallik, Dhiraj

2018-04-30

Tuberculosis (TB) is an infectious disease that can affect any organ system of the body. Abdominal TB can be gastrointestinal, lymph nodal, visceral or peritoneal. The gallbladder (GB) is rarely involved in abdominal TB as a primary organ. Extensive research literature on gallbladder TB is limited to case reports. There has been no review on this rare abdominal pathology. GB tuberculosis is a difficult diagnosis preoperatively. It is a rare differential among the more common gallbladder pathologies such as cholelithiasis, or a gallbladder malignancy. Typical histopathology of the resected specimen helps to establish this rare diagnosis. Subjecting every specimen to histopathological examination followed by medical treatment offers the chance of cure. Through this review, the authors attempt to provide an insight into this disease entity.

Amyand's hernia: A case report and review of the literature.

PubMed

Shaban, Youssef; Elkbuli, Adel; McKenney, Mark; Boneva, Dessy

2018-05-07

An Amyand hernia is a rare disease where the appendix is found within an inguinal hernia sac. This rare entity is named after the French born English surgeon, Dr. Claudius Amyand. Inguinal hernias are one of the most common surgeries that a general surgeon performs with more than 20 million inguinal hernia repairs performed yearly worldwide. The incidence of finding an appendix within the hernia sac is rare, occurring in less than 1% of inguinal hernia patients and when complications arise such as inflammation, perforation, or abscess formation it becomes exceptionally rare with an incidence of about 0.1%. A 59-year-old male with a history of a previously reducible right inguinal hernia presented to the Emergency Department with acute abdominal pain, right groin mass. Computed tomography (CT) confirmed a right incarcerated inguinal hernia with herniated loops of bowel within the right inguinal region. Patient was subsequently treated with an appendectomy and tension free hernia repair with mesh with a successful outcome. The current generally accepted treatment algorithm for Amyand's hernia is essentially contingent on the appendix's condition within the hernia sac. Controversy exists regarding the application of mesh in type 2 Amyand's hernia. More research is needed to provide surgeons with evidence-based standardized approaches for dealing with this unique situation. This case report reviews a rare entity known as an Amyand's hernia that presented as an incarcerated hernia that was diagnosed intraoperatively with an inflamed appendix, recognized as a type 2 Amyand's hernia. Copyright © 2018 The Author(s). Published by Elsevier Ltd.. All rights reserved.

Targeted fascicular biopsy of the sciatic nerve and its major branches: rationale and operative technique.

PubMed

Capek, Stepan; Amrami, Kimberly K; Dyck, P James B; Spinner, Robert J

2015-09-01

OBJECT Nerve biopsy is typically performed in distal, noncritical sensory nerves without using imaging to target the more involved regions. The yield of these procedures rarely achieves more than 50%. In selected cases where preoperative evaluation points toward a more localized (usually a more proximal) process, targeted biopsy would likely capture the disease. Synthesis of data obtained from clinical examination, electrophysiological testing, and MRI allows biopsy of a portion of the major mixed nerves safely and efficiently. Herein, experiences with the sciatic nerve are reported and a description of the operative technique is provided. METHODS All cases of sciatic nerve biopsy performed between 2000 and 2014 were reviewed. Only cases of fascicular nerve biopsy approached from the buttock or the posterior aspect of the thigh were included. Demographic data, clinical presentation, and the presence of percussion tenderness for each patient were recorded. Reviewed studies included electrodiagnostic tests and imaging. Previous nerve and muscle biopsies were noted. All details of the procedure, final pathology, and its treatment implications were recorded. The complication rate was carefully assessed for temporary as well as permanent complications. RESULTS One hundred twelve cases (63 men and 49 women) of sciatic nerve biopsy were performed. Mean patient age was 46.4 years. Seventy-seven (68.8%) patients presented with single lower-extremity symptoms, 16 (14.3%) with bilateral lower-extremity symptoms, and 19 (17%) with generalized symptoms. No patient had normal findings on physical examination. All patients underwent electrodiagnostic studies, the findings of which were abnormal in 110 (98.2%) patients. MRI was available for all patients and was read as pathological in 111 (99.1%). The overall diagnostic yield of biopsy was 84.8% (n = 95). The pathological diagnoses included inflammatory demyelination, perineurioma, nonspecific inflammatory changes, neurolymphomatosis, amyloidosis, prostate cancer, injury neuroma, neuromuscular choristoma, sarcoidosis, vasculitis, hemangiomatosis, arteriovenous malformation, fibrolipomatous hamartoma (lipomatosis of nerve), and cervical adenocarcinoma. The series included 11 (9.9%) temporary and 5 (4.5%) permanent complications: 3 patients (2.7%) reported permanent numbness in the peroneal division distribution, and 2 patients (1.8%) were diagnosed with neuromuscular choristoma that developed desmoid tumor at the biopsy site 3 and 8 years later. CONCLUSIONS Targeted fascicular biopsy of the sciatic nerve is a safe and efficient diagnostic procedure, and in highly selected cases can be offered as the initial procedure over distal cutaneous nerve biopsy. Diagnoses were very diverse and included entities considered very rare. Even for the more prevalent diagnoses, the biopsy technique allowed a more targeted approach with a higher diagnostic yield and justification for more aggressive treatment. In this series, new radiological patterns of some entities were identified, which could be biopsied less frequently.

Extranasopharyngeal angiofibroma of the posterior nasal septum: a rare clinical entity.

PubMed

Atmaca, Sinan; Bayraktar, Cem; Yıldız, Levent

2013-01-01

Angiofibroma of extranasopharyngeal origin is very rare. Although it is usually originated from any mucosal structure in the head and neck region, maxilla is the most common involvement site. The nasal septum is an exceptional anatomic site of an angiofibroma. Surgery is the best treatment modality and recurrence is very rare. Nasal septal angiofibromas must be considered in the differential diagnosis of nasal vascular masses arising from the nasal septum. In this article, we report a 37-year-old male case with nasal septal angiofibroma who underwent surgical resection of the tumor. This is the 16th case in the literature.

Report of a rare case and review of adult intestinal duplication at the opposite side of mesenteric margin.

PubMed

Huang, Zhi-Hao; Wan, Zi-Hao; Vikash, Vikash; Vikash, Sindhu; Jiang, Cong-Qing

2018-01-01

To study the previously discovered clinical entity of adult intestinal duplication and its treatment, and propose an extension to its existing classification. We report the case of an adult male with abdominal pain, constipation and vomiting. This patient underwent surgical separation of adhesions, reduction of torsion and intestinal decompression. Postoperative pathological findings confirmed the rare diagnosis of intestinal duplication. Adult intestinal duplication is quite rare. Its clinical manifestations are nonspecific. From this finding of intestinal duplication originating at the opposite side of the mesenteric margin, a further extension of the existing anatomical classification is proposed.

An unexpected metastasis of breast cancer mimicking wheal rush.

PubMed

Damaskos, C; Dimitroulis, D; Pergialiotis, V; Doula, C; Koulermou, G; Antoniou, E A; Frangoulis, M; Stergios, K; Kontzoglou, K

2016-01-01

Breast cancer is the most common cancer among women and ranks second in cancer deaths worldwide. Breast cancer can metastasize to the skin but rarely, cutaneous metastases may be the first indication of the cancer. Skin metastases of breast cancer are usually found on the chest and close to the point of the mastectomy. We present the rare clinical entity of a breast cancer which was first diagnosed due to the skin metastasis away from the breast tumor. This is a rare case because the skin lesions usually appear simultaneously or secondary. Also, while the existing metastasis; the only symptom was the wheal rash.

An unexpected metastasis of breast cancer mimicking wheal rush

PubMed Central

DAMASKOS, C.; DIMITROULIS, D.; PERGIALIOTIS, V.; DOULA, C.; KOULERMOU, G.; ANTONIOU, E.A.; FRANGOULIS, M.; STERGIOS, K.; KONTZOGLOU, K.

2016-01-01

Breast cancer is the most common cancer among women and ranks second in cancer deaths worldwide. Breast cancer can metastasize to the skin but rarely, cutaneous metastases may be the first indication of the cancer. Skin metastases of breast cancer are usually found on the chest and close to the point of the mastectomy. We present the rare clinical entity of a breast cancer which was first diagnosed due to the skin metastasis away from the breast tumor. This is a rare case because the skin lesions usually appear simultaneously or secondary. Also, while the existing metastasis; the only symptom was the wheal rash. PMID:27734799

Cystic lymph node enlargement of the neck: filariasis as a rare differential diagnosis in MRI.

PubMed

Schick, Christoph; Thalhammer, Axel; Balzer, Jörn O; Abolmaali, Nasreddin; Vogl, Thomas J

2002-09-01

Cervical lymph node enlargement is a common feature of most inflammatory and neoplastic entities of the head and neck. Filariasis can lead to lymphangiectasis resembling lymph node enlargement; however, this is a rare differential diagnosis in European patients. As ethnic minorities are increasing throughout Europe and personal mobility, e.g. during holidays, is increasing, such rare differential diagnoses have to be taken into consideration. We present the case of an Iraqi patient referred to as for a suspected cystic lymph node mass that was verified histologically by open MRI biopsy and proved to be a cystic manifestation of filariasis.

Peritoneal Lipomatosis: A Case Report of a 12-Year-Old Boy

PubMed Central

Fotis, L.; Koglmeier, J.; Shah, N.

2013-01-01

Peritoneal lipomatosis is a rare disease in childhood with only two cases previously described in children. We report a further case of a 12-year-old boy diagnosed with peritoneal lipomatosis. His main symptoms were abdominal pain, alternating bowel habit, abdominal distension, and melaena. His diagnostic work up included an abdominal MRI, wireless capsule endoscopy and single-balloon enteroscopy. Peritoneal lipomatosis although rare can be diagnosed in childhood. It is a benign clinical entity with variable manifestations. PMID:23762668

An Unusual Consolidation: Lobar Pulmonary Hemorrhage Due to Antithrombotic Therapy.

PubMed

D'Amore, Katrina; Traficante, David; McGovern, Terrance; Propersi, Marco; Barnes, Stacey

2017-11-01

Alveolar hemorrhage is a rare yet devastating clinical entity if not identified and treated aggressively. Exceedingly rare are the cases of anticoagulant-induced alveolar hemorrhage with very few cases described in the current literature. The nonspecific presentation of an alveolar hemorrhage makes its diagnosis and appropriate treatment difficult in the emergency department. We report a case of a patient on warfarin for atrial fibrillation who was initially misdiagnosed as having community-acquired pneumonia, but subsequently was identified to have a fatal alveolar hemorrhage.

Inclusion body myositis – pathomechanism and lessons from genetics

PubMed Central

Murnyák, Balázs; Bodoki, Levente; Vincze, Melinda; Griger, Zoltán; Csonka, Tamás; Szepesi, Rita; Kurucz, Andrea; Dankó, Katalin

2015-01-01

Inclusion body myositis is a rare, late-onset myopathy. Both inflammatory and myodegenerative features play an important role in their pathogenesis. Overlapping clinicopathological entities are the familial inclusion body myopathies with or without dementia. These myopathies share several clinical and pathological features with the sporadic inflammatory disease. Therefore, better understanding of the genetic basis and pathomechanism of these rare familial cases may advance our knowledge and enable more effective treatment options in sporadic IBM, which is currently considered a relentlessly progressive incurable disease. PMID:28352694

Bilateral sclerosing orbital pseudotumour in an adult

PubMed Central

Sripathi, Smiti; Shenoy, Poonam Mohan; Ayachit, Anurag; Kadavigere, Rajagopal

2014-01-01

Sclerosing pseudotumour of the orbit is a rare idiopathic chronic inflammatory process, which greatly mimics neoplasms both clinically and on imaging studies. It is therefore important to differentiate this entity from true neoplasms and to rule out any systemic associations. We present a rare case of sclerosing orbital pseudotumour in an adult man with no systemic illnesses who presented with painless progressive proptosis of both eyes and showed a gradual initial response to steroid therapy but relapsed after a 2-year interval. PMID:24876210

Bilateral sclerosing orbital pseudotumour in an adult.

PubMed

Sripathi, Smiti; Shenoy, Poonam Mohan; Ayachit, Anurag; Kadavigere, Rajagopal

2014-05-29

Sclerosing pseudotumour of the orbit is a rare idiopathic chronic inflammatory process, which greatly mimics neoplasms both clinically and on imaging studies. It is therefore important to differentiate this entity from true neoplasms and to rule out any systemic associations. We present a rare case of sclerosing orbital pseudotumour in an adult man with no systemic illnesses who presented with painless progressive proptosis of both eyes and showed a gradual initial response to steroid therapy but relapsed after a 2-year interval. 2014 BMJ Publishing Group Ltd.

[Myosin storage myopathy: a rare subtype of protein aggregate myopathies].

PubMed

Kiphuth, I C; Neuen-Jacob, E; Struffert, T; Wehner, M; Wallefeld, W; Laing, N; Schröder, R

2010-04-01

Myopathies with pathological protein aggregates comprise a numerically significant group of sporadic and hereditary muscle disorders. A rare disease entity within the group of protein aggregate myopathies is the myosin storage myopathy, which is caused by heterozygous mutations in the MYH7 gene which encodes the slow/beta-myosin heavy chain. We report the clinical, myopathological and MRI findings in the first German patient suffering from a myosin storage myopathy due to a heterozygous R 1845W missense mutation.

Myofibroblastoma of the male breast: a rare entity with radiologic-pathologic correlation

PubMed Central

Comer, John D.; Cui, Xiaoyan; Eisen, Carolyn Sharyn; Abbey, Genevieve; Arleo, Elizabeth Kagan

2016-01-01

A 73-year old man with a history of multiple genitourinary malignancies was found to have a left retroareolar soft tissue mass on CT assessment of disease, and dedicated breast imaging was recommended. Diagnostic mammography and ultrasonography confirmed a solid mass, for which biopsy was recommended. Pathologic analysis demonstrated a spindle cell neoplasm with an immunoreactivity pattern consistent with myofibroblastoma. While this entity is benign, nonspecific imaging features necessitate tissue sampling for pathologic diagnosis, and, given pathologic rarity, open communication between the radiologist and pathologist is important to establish the correct diagnosis and to recommend appropriate management. PMID:27936420

Syndromes that Link the Endocrine System and Genitourinary Tract.

PubMed

Özlük, Yasemin; Kılıçaslan, Işın

2015-01-01

The endocrine system and genitourinary tract unite in various syndromes. Genitourinary malignancies may cause paraneoplastic endocrine syndromes by secreting hormonal substances. These entities include Cushing`s syndrome, hypercalcemia, hyperglycemia, polycythemia, hypertension, and inappropriate ADH or HCG production. The most important syndromic scenarios that links these two systems are hereditary renal cancer syndromes with specific genotype/phenotype correlation. There are also some very rare entities in which endocrine and genitourinary systems are involved such as Carney complex, congenital adrenal hyperplasia and Beckwith-Wiedemann syndrome. We will review all the syndromes regarding manifestations present in endocrine and genitourinary organs.

Regression and Data Mining Methods for Analyses of Multiple Rare Variants in the Genetic Analysis Workshop 17 Mini-Exome Data

PubMed Central

Bailey-Wilson, Joan E.; Brennan, Jennifer S.; Bull, Shelley B; Culverhouse, Robert; Kim, Yoonhee; Jiang, Yuan; Jung, Jeesun; Li, Qing; Lamina, Claudia; Liu, Ying; Mägi, Reedik; Niu, Yue S.; Simpson, Claire L.; Wang, Libo; Yilmaz, Yildiz E.; Zhang, Heping; Zhang, Zhaogong

2012-01-01

Group 14 of Genetic Analysis Workshop 17 examined several issues related to analysis of complex traits using DNA sequence data. These issues included novel methods for analyzing rare genetic variants in an aggregated manner (often termed collapsing rare variants), evaluation of various study designs to increase power to detect effects of rare variants, and the use of machine learning approaches to model highly complex heterogeneous traits. Various published and novel methods for analyzing traits with extreme locus and allelic heterogeneity were applied to the simulated quantitative and disease phenotypes. Overall, we conclude that power is (as expected) dependent on locus-specific heritability or contribution to disease risk, large samples will be required to detect rare causal variants with small effect sizes, extreme phenotype sampling designs may increase power for smaller laboratory costs, methods that allow joint analysis of multiple variants per gene or pathway are more powerful in general than analyses of individual rare variants, population-specific analyses can be optimal when different subpopulations harbor private causal mutations, and machine learning methods may be useful for selecting subsets of predictors for follow-up in the presence of extreme locus heterogeneity and large numbers of potential predictors. PMID:22128066

Systemic sclerosis complicated with localized scleroderma-like lesions induced by Köbner phenomenon.

PubMed

Saigusa, Ryosuke; Asano, Yoshihide; Yamashita, Takashi; Takahashi, Takehiro; Nakamura, Kouki; Miura, Shunsuke; Ichimura, Yohei; Toyama, Tetsuo; Taniguchi, Takashi; Sumida, Hayakazu; Tamaki, Zenshiro; Miyazaki, Miki; Yoshizaki, Ayumi; Sato, Shinichi

2018-03-01

Scleroderma is a chronic disease of unknown etiology characterized by skin fibrosis and is divided into two clinical entities: systemic sclerosis (SSc) and localized scleroderma (LSc). In general, LSc is rarely complicated with SSc, but a certain portion of SSc patients manifests bilateral symmetric LSc-like lesions on the trunk and extremities. We investigated SSc patients with LSc-like lesions to clarify the underlying pathophysiology. Nine SSc cases complicated with LSc-like lesions were clinically and histologically characterized. SSc patients with LSc-like lesions exhibited multiple progressive hyper- and/or hypo-pigmented plaques with mild sclerosis symmetrically distributed on the trunk and extremities, especially abdominal region. In histological assessment, epidermal IL-1α expression was elevated in both forearms and LSc-like lesions of these patients to a greater extent than in forearms of control patients (SSc patients without LSc-like lesions). Of note, the infiltration and degranulation of mast cells were evident throughout the dermis of LSc-like lesions, while detectable to a lesser extent in forearms of SSc patients with LSc-like lesions and control patients. The epidermis of SSc patients with LSc-like lesions seems to possess an inflammatory phenotype, leading to the activation of mast cells in the dermis of mechanically stressed skin. Köbner phenomenon may be involved in the induction of LSc-like lesions in a certain subset of SSc. Copyright © 2017 Japanese Society for Investigative Dermatology. Published by Elsevier B.V. All rights reserved.

Dilated cardiomyopathy with short QT interval: is it a new clinical entity?

PubMed

Bohora, Shomu; Namboodiri, Narayanan; Tharakan, Jaganmohan; Vk, Ajit Kumara; Nayyar, Sachin

2009-05-01

Short QT syndrome is a rare autosomal dominant channelopathy of structurally normal hearts characterized by atrial fibrillation, ventricular arrhythmias, and sudden cardiac death. We report a case having short QT, dilated ventricles, and severe ventricular dysfunction, an unreported association so far.

Novel presentation of a fourth branchial cleft anomaly in a male infant.

PubMed

Evans, Seth H; Marinello, Mark; Dodson, Kelley M

2010-01-01

Fourth branchial cleft anomalies are rare congenital disorders of the neck. We describe a case involving a unique presentation of this entity as well as a review of the literature concerning its management. Copyright (c) 2010 Elsevier Inc. All rights reserved.

Neonatal Bartter syndrome and unilateral ectopic renal cyst as new renal causes of hydrops fetalis: two case reports and review of the literature.

PubMed

Çetinkaya, Merih; Durmaz, Oguzhan; Büyükkale, Gökhan; Ozbek, Sibel; Acar, Deniz; Kilicaslan, Isin; Kavuncuoglu, Sultan

2013-07-01

Non-immune hydrops fetalis (NIHF) is a challenging entity as it represents the end stage of several different disorders. Renal and genitourinary causes of NIHF are rare and include congenital renal malformations, tumors and ureter-urethra disorders. Herein, two NIHF cases with different renal causes were presented. The first case that had antenatal NIHF was diagnosed neonatal Bartter syndrome. The second case of NIHF with antenatal large cyst in the surrenal gland area required surgery and ectopic renal cyst was diagnosed. To our best of knowledge, these are the first reports of NIHF associated with neonatal Bartter syndrome and ectopic renal cyst in neonates. Although it may be coincidental, these cases suggest that both neonatal Bartter syndrome and unilateral ectopic renal cyst may cause NIHF development in neonates by several different mechanisms. Therefore, these two rare entities should be suspected in cases of NIHF with similar findings.

Sunitinib-induced thyrotoxicosis - a not so rare entity.

PubMed

Jazvić, Marijana; Prpić, Marin; Jukić, Tomislav; Murgić, Jure; Jakšić, Blanka; Kust, Davor; Prgomet, Angela; Bolanča, Ante; Kusić, Zvonko

2015-01-01

The tyrosine kinase inhibitor (TKI) sunitinib malate is nowadays a standard first-line treatment option for patients with metastatic clear-cell renal cell carcinoma (mRCC). The aim of this study was to evaluate the incidence and clinical course of thyrotoxicosis in our cohort of patients treated with sunitinib. Medical records of all patients treated with first-line sunitinib for mRCC at our Institution between November 2008 and March 2014 were retrospectively reviewed. Thyroid function was assessed after every 2 cycles of therapy, during the 2 weeks off period. Out of the 62 included patients, hypothyroidism has developed during therapy in 12 patients (19%) and it was preceded by thyrotoxicosis in 2 (3.2%). Sunitinib-induced thyrotoxicosis (SIT), a not so rare entity, was followed by hypothyroidism. The patterns of occurrence and possible significance of SIT, as predictive marker of better treatment response to sunitinib, need to be validated in further studies. Copyright© 2015 International Institute of Anticancer Research (Dr. John G. Delinassios), All rights reserved.

Tuberculosis-associated Fibrosing Mediastinitis: Case Report and Literature Review.

PubMed

Tan, Ronald; Martires, Joanne; Kamangar, Nader

2016-01-01

Fibrosing mediastinitis is a rare condition defined by the presence of fibrotic mediastinal infiltrates that obliterate normal fat planes. It is a late complication of a previous granulomatous infection, such as histoplasmosis or tuberculosis (TB). Due to its rarity, fibrosing mediastinitis is often under-recognized, and the clinical presentation is variable and dependent on the extent of infiltration or encasement of structures within the mediastinum. We present a case of fibrosing mediastinitis in a man with a prior history of TB, who presented with progressive dyspnea and was found to have chronic mediastinal soft tissue opacities and pulmonary hypertension. His diagnosis was delayed due to the lack of recognition of this clinical/radiographic entity. Fibrosing mediastinitis is a rare entity usually caused by granulomatous disease. Most cases develop as a late complication of histoplasmosis or TB. The presence of calcified mediastinal soft tissue infiltrates on advanced chest imaging can be diagnostic of fibrosing mediastinitis in patients with a prior history of a granulomatous infection once active processes such as malignancy are excluded.

Severe soft tissue infection of the lower extremity caused by Haemophilus influenzae (serotype f, biotype II) in an adult patient.

PubMed

Hagiya, Hideharu; Murase, Tomoko; Naito, Hiromichi; Hagioka, Shingo; Morimoto, Naoki

2012-01-01

The infection caused by non-b-type Haemophilus influenzae has been increasing in this Hib (H.influenzae serotype b) vaccination era. H.influenzae serotype f (Hif) is considered as one of those emerging pathogens. In general, H.influenzae is a common pathogen of such as pneumonia, otitis media, and meningitis, but is rare in soft tissue infection, especially at the extremity. We report a rare case of severe soft tissue infection caused by Hif which occurred at the lower extremity of immunocompetent adult patient.

Salmonella Typhimurium pneumonia in a patient with multiple myeloma.

PubMed

Khan, Sadia; Kumar, V Anil; Sidharthan, Neeraj; Mehta, Asmita; Backer, Binita; Dinesh, Kavitha R

2015-04-01

Pneumonia due to non-typhoidal Salmonella is a rarely reported entity. A fatal case of Salmonella pneumonia is reported here where Salmonella Typhimurium was isolated from the endotracheal aspirate and blood culture. © The Author(s) 2014 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.

Granular cell tumour of the neurohypophysis: an unusual cause of hypopituitarism.

PubMed

Bello, Carlos Tavares; Cipriano, Patricia; Henriques, Vanessa; Duarte, João Sequeira; Marques, Conceição Canas

2018-01-01

Granular cell tumours (GCT) are rare, slow-growing, benign neoplasms that are usually located in the head and neck. They are more frequent in the female gender and typically have an asymptomatic clinical course, being diagnosed only at autopsy. Symptomatic GCT of the neurohypophysis are exceedingly rare, being less than 70 cases described so far. The authors report on a case of a 28-year-old male that presented to the Endocrinology clinic with clinical and biochemical evidence of hypogonadism. He also reported minor headaches without any major visual symptoms. Further laboratory tests confirmed hypopituitarism (hypogonadotrophic hypogonadism, central hypothyroidism and hypocortisolism) and central nervous system imaging revealed a pituitary macroadenoma. The patient underwent transcranial pituitary adenoma resection and the pathology report described a GCT of the neurohypophysis with low mitotic index. The reported case is noteworthy for the rarity of the clinicopathological entity. Symptomatic GCTs are rare CNS tumours whose cell of origin is not well defined that usually give rise to visual symptoms, headache and endocrine dysfunction.Imaging is quite unspecific and diagnosis is difficult to establish preoperatively.Surgical excision is challenging due to lesion's high vascularity and propensity to adhere to adjacent structures.The reported case is noteworthy for the rarity of the clinicopathological entity.

Mining the LIPG Allelic Spectrum Reveals the Contribution of Rare and Common Regulatory Variants to HDL Cholesterol

PubMed Central

Raghavan, Avanthi; Neeli, Hemanth; Jin, Weijun; Badellino, Karen O.; Demissie, Serkalem; Manning, Alisa K.; DerOhannessian, Stephanie L.; Wolfe, Megan L.; Cupples, L. Adrienne; Li, Mingyao; Kathiresan, Sekar; Rader, Daniel J.

2011-01-01

Genome-wide association studies (GWAS) have successfully identified loci associated with quantitative traits, such as blood lipids. Deep resequencing studies are being utilized to catalogue the allelic spectrum at GWAS loci. The goal of these studies is to identify causative variants and missing heritability, including heritability due to low frequency and rare alleles with large phenotypic impact. Whereas rare variant efforts have primarily focused on nonsynonymous coding variants, we hypothesized that noncoding variants in these loci are also functionally important. Using the HDL-C gene LIPG as an example, we explored the effect of regulatory variants identified through resequencing of subjects at HDL-C extremes on gene expression, protein levels, and phenotype. Resequencing a portion of the LIPG promoter and 5′ UTR in human subjects with extreme HDL-C, we identified several rare variants in individuals from both extremes. Luciferase reporter assays were used to measure the effect of these rare variants on LIPG expression. Variants conferring opposing effects on gene expression were enriched in opposite extremes of the phenotypic distribution. Minor alleles of a common regulatory haplotype and noncoding GWAS SNPs were associated with reduced plasma levels of the LIPG gene product endothelial lipase (EL), consistent with its role in HDL-C catabolism. Additionally, we found that a common nonfunctional coding variant associated with HDL-C (rs2000813) is in linkage disequilibrium with a 5′ UTR variant (rs34474737) that decreases LIPG promoter activity. We attribute the gene regulatory role of rs34474737 to the observed association of the coding variant with plasma EL levels and HDL-C. Taken together, the findings show that both rare and common noncoding regulatory variants are important contributors to the allelic spectrum in complex trait loci. PMID:22174694

Rapid brain death caused by a cerebellar abscess with Fusobacterium nucleatum in a young man with drug abuse: a case report.

PubMed

Hischebeth, Gunnar T R; Keil, Vera C; Gentil, Katrin; Boström, Azize; Kuchelmeister, Klaus; Bekeredjian-Ding, Isabelle

2014-06-10

Fusobacterium nucleatum is a strict anaerobic microorganism that causes disease entities such as periodontal and soft tissue abscesses, pulmonary and intraabdominal infections and very rarely intracerebral infections. Here, we report the rare case of a previously healthy 25-year-old German man with a cerebellar abscess caused by Fusobacterium nucleatum that resulted in rapid brain death. Toxicological screening showed positivity for amphetamines and cannabis. The diagnosis was obtained by polymerase chain reaction amplification of bacterial deoxyribonucleic acid in cerebrospinal fluid. In drug users clinicians should think about rare causes of brain abscesses/meningitis. Early diagnosis is necessary and justifies the use of molecular techniques.

DOE Office of Scientific and Technical Information (OSTI.GOV)

Kamran, Mudassar, E-mail: kamranm@mir.wustl.edu; Fowler, Kathryn J., E-mail: fowlerk@mir.wustl.edu; Mellnick, Vincent M., E-mail: mellnickv@mir.wustl.edu

Primary aortic neoplasms are rare. Aortic sarcoma arising after endovascular aneurysm repair (EVAR) is a scarce subset of primary aortic malignancies, reports of which are infrequent in the published literature. The diagnosis of aortic sarcoma is challenging due to its non-specific clinical presentation, and the prognosis is poor due to delayed diagnosis, rapid proliferation, and propensity for metastasis. Post-EVAR, aortic sarcomas may mimic other more common aortic processes on surveillance imaging. Radiologists are rarely knowledgeable about this rare entity for which multimodality imaging and awareness are invaluable in early diagnosis. A series of three pathologically confirmed cases are presented tomore » display the multimodality imaging features and clinical presentations of aortic sarcoma arising after EVAR.« less

Crossed asymmetry in Russell-Silver syndrome.

PubMed Central

Qazi, Q H; Kassner, E G; Ganapathy, C

1977-01-01

Since the initial report by Silver et al (1953), more than 50 examples of the Russell-Silver syndrome have been reported. Unilateral congenital asymmetry of the extremities has been considered one of the major features of this disorder (Silver, 1964). We recently observed a child with otherwise typical features of the Russell-Silver syndrome who had enlargement of the right hand and of the left lower extremity. We know of no other recorded example of crossed asymmetry in this clinical entity. Images PMID:839508

Elephantine but not elephantiasis: Subcutaneous zygomycosis.

PubMed

Girish, Meenakshi; Arora, Amit; Bhalla, Lucky; Salodkar, Atul

2011-09-01

Subcutaneous zygomycosis is an unusual disorder caused by a rare fungus, Basidiobolus ranarum. We report this entity in a 4- yr- old boy. Biopsy showed the Splendore Hoeppli phenomenon and the culture yielded Basidiobolus ranarum. The child responded to saturated solution of potassium iodide within 1 month of starting treatment.

Keratinizing dentigerous cyst

PubMed Central

Sivasankar, Vaishnavi; Ranganathan, Kannan; Praveen, B

2014-01-01

Keratinizing dentigerous cyst is a rare entity. This article reports a case of keratinizing dentigerous cyst associated with an impacted mandibular canine. Clinical and radiological features, cone-beam computed tomography findings and histological features of the case are reported along with a discussion on keratinizing odontogenic cysts and the need for follow-up. PMID:24808713

[Lupoid syndrome in "BCG-itis." Report of a case].

PubMed

Ramírez, O; Ramírez, R

1986-01-01

It is presented the first case of lupoid syndrome of "BCG-itis" found in El Salvador. Its clinic-pathological study is conclusive for such dermatological entity. The complications of vaccination with BCG are rare. It must be treated as an active tuberculosis, but with a greater control of the patient.

Extraventricular neurocytoma in a child mimicking oligodendroglioma: a diagnostic pitfall.

PubMed

Limaiem, F; Bellil, S; Chelly, I; Mekni, A; Bellil, K; Jemel, H; Haouet, S; Zitouna, M; Kchir, N

2009-04-01

Extraventricular neurocytomas are rare neuronal tumours that have been included in the 2007 WHO classification as a variant of central neurocytoma. They arise outside the ventricles, usually within the cerebral hemisphere,s but also in other regions throughout the neuraxis. The morphological overlap of these tumours with oligodendroglioma often poses diagnostic difficulty. Herein, a case of extraventricular neurocytoma in a 4-year-old girl is reported that mimicked histologically oligodendroglioma. The authors describe the clinicopathological features of this rare entity with special emphasis on differential diagnosis.

Mucinous Cystadenocarcinoma of the Breast: Report of 2 Cases Including One With Long-Term Local Recurrence.

PubMed

Nayak, Anupma; Bleiweiss, Ira J; Dumoff, Kimberly; Bhuiya, Tawfiqul A

2018-05-01

Primary mucinous cystadenocarcinoma (MCA) of breast is an exceedingly rare tumor with histologic resemblance to MCA arising in ovary, pancreas, and gastrointestinal tract. In this article, we present 2 additional cases of MCA of breast, one highlighting the diagnostic challenges of a rare entity that may potentially lead to unnecessary chemotherapy and the second case presenting with recurrence after 8 years of primary surgical excision defying the indolent behavior reported in the literature. To our knowledge, this is the first reported instance of such behavior.

A case of penile fracture at the crura of the penis without urethral involvement: Rare entity.

PubMed

Srinivas, B V; Vasan, S S; Mohammed, Sajid

2012-07-01

Penile fracture is a rare injury, most commonly sustained during sexual intercourse. We report the case of a 29-year-old man who presented with bilateral rupture of the crura of the cavernosa without urethral injury. This is the first case in the literature to present with this unique finding. Urgent surgical exploration was performed and the injuries repaired primarily. At follow-up, the patient reported satisfactory erectile function. This case highlights the importance of early diagnosis with unusual presentation and early surgical repair for better outcome.

A rare case report of squamous-cell carcinoma arising from mature cystic teratoma of ovary.

PubMed

Kalampokas, E; Boutas, I; Kairi-Vasilatou, E; Salakos, N; Panoulis, K; Aravantinos, L; Damaskos, C; Kalampokas, T; Deligeoroglou, E

2014-01-01

The most frequent ovarian germ cell tumors are mature cystic teratomas (MCTs), composing 10-25% of all ovarian neoplasms. MCTs have the potential of undergoing malignant transformation, typically in postmenopausal women, with a frequency of 0.17-3%, with squamous cell carcinoma being the most common malignant tumor arising from MCT. We present the rare clinical entity of a squamous cell carcinoma arising from a mature cystic teratoma in a 56-year-old premenopausal woman as well as diagnostic and therapeutic route followed.

Streptococcal toxic shock syndrome following total thyroidectomy.

PubMed

Hung, J A Z; Rajeev, P

2013-10-01

Group A streptococcal toxic shock syndrome following clean surgery is a rare occurrence. Its incidence following thyroid surgery has not been described in the literature. We report on the presentation and management of severe streptococcal toxic shock syndrome following a total thyroidectomy for a multinodular goitre in a patient with Cowden syndrome. This report presents an overview of streptococcal toxic shock syndrome with a focus on the management issues to consider so as to improve patient outcome. All surgeons must maintain a high index of suspicion for this rare but dangerous entity.

Streptococcal toxic shock syndrome following total thyroidectomy

PubMed Central

Hung, J AZ

2013-01-01

Group A streptococcal toxic shock syndrome following clean surgery is a rare occurrence. Its incidence following thyroid surgery has not been described in the literature. We report on the presentation and management of severe streptococcal toxic shock syndrome following a total thyroidectomy for a multinodular goitre in a patient with Cowden syndrome. This report presents an overview of streptococcal toxic shock syndrome with a focus on the management issues to consider so as to improve patient outcome. All surgeons must maintain a high index of suspicion for this rare but dangerous entity. PMID:24112488

[Amyand's hernia--a clinical case].

PubMed

Savlovschi, C; Brănescu, C; Serban, D; Tudor, C; Găvan, C; Shanabli, A; Comandaşu, M; Vasilescu, L; Borcan, R; Dumitrescu, D; Sandolache, B; Sajin, M; Grădinaru, S; Munteanu, R; Kraft, A; Oprescu, S

2010-01-01

Amyand's hernia, a rare entity in the surgical pathology, presupposes the presence of the vermiform appendix inside a inguinal hernia sac (1). The hernia sac peritonitis by appendix swelling is even more rare, very few cases being presented in the surgical literature (1). The preoperatory diagnosis of Amyand's hernia is therefore very difficult. We herein present the case of a 71-year old male patient, operated on an emergency basis for hernia, which eventually turned out to be Amyand's hernia, a case which determined us to research the literature dedicated to this topic.

Primary disorders of the lymphatic vessels--a unified concept.

PubMed

Levine, C

1989-03-01

Congenital defects of lymphatics constitute a spectrum of disorders that may manifest with a variety of clinical presentations including lymphedema, chylous effusions, lymphangiomatous malformations with cystic masses and localized gigantism, and intestinal lymphangiectasia with malabsorption. These entities constitute a relatively rare group of disorders, the origin of which remains somewhat controversial, but in some it appears to be due to early lymphatic obstruction. Five cases are described, which demonstrate the anatomical pathology of these entities. A classification and description of the defects is also presented. An attempt is made to present a unified theory of origin for this seemingly diverse group of diseases. While these entities may be challenging from a diagnostic and therapeutic standpoint, a wide variety of imaging modalities, which includes lymphography, computed tomography scanning, and ultrasound, may be used to diagnose the extent and internal structural characteristics of the abnormalities.

Politics, culture, and the legitimacy of disease: the case of Buerger's disease.

PubMed

Lockwood, Stephen J; Bresler, Scott C; Granter, Scott R

2016-09-01

Thromboangiitis obliterans (TAO) or Buerger's disease is a rare form of vasculitis with distinctive clinical and pathological features that carries significant morbidity, often leading to amputation, and is strongly associated with tobacco smoking. Despite its distinctive clinicopathological characteristics, the existence of TAO as an entity sui generis was challenged for many years as it languished in relative obscurity. Then, as societal attitudes towards smoking changed, TAO not only became accepted as a disease entity, it quite literally became a poster child to illustrate the ills of smoking. Herein, we examine the history of TAO to illustrate the power of societal attitudes and politics in shaping medicine.

Simultaneous liver mucinous cystic and intraductal papillary mucinous neoplasms of the bile duct: a case report.

PubMed

Budzynska, Agnieszka; Hartleb, Marek; Nowakowska-Dulawa, Ewa; Krol, Robert; Remiszewski, Piotr; Mazurkiewicz, Michal

2014-04-14

Cystic hepatic neoplasms are rare tumors, and are classified into two separate entities: mucinous cystic neoplasms (MCNs) and intraductal papillary mucinous neoplasms of the bile duct (IPMN-B). We report the case of a 56-year-old woman who presented with abdominal pain and jaundice due to the presence of a large hepatic multilocular cystic tumor associated with an intraductal tumor. Partial hepatectomy with resection of extrahepatic bile ducts demonstrated an intrahepatic MCN and an intraductal IPMN-B. This is the first report of the simultaneous occurrence of these two histologically distinct entities in the liver.

Properties of Extreme Precipitation and Their Uncertainties in 3-year GPM Precipitation Radar Data

NASA Astrophysics Data System (ADS)

Liu, N.; Liu, C.

2017-12-01

Extreme high precipitation rates are often related to flash floods and have devastating impacts on human society and the environments. To better understand these rare events, 3-year Precipitation Features (PFs) are defined by grouping the contiguous areas with nonzero near-surface precipitation derived using Global Precipitation Measurement (GPM) Ku band Precipitation Radar (KuPR). The properties of PFs with extreme precipitation rates greater than 20, 50, 100 mm/hr, such as the geographical distribution, volumetric precipitation contribution, seasonal and diurnal variations, are examined. In addition to the large seasonal and regional variations, the rare extreme precipitation rates often have a larger contribution to the local total precipitation. Extreme precipitation rates occur more often over land than over ocean. The challenges in the retrieval of extreme precipitation might be from the attenuation correction and large uncertainties in the Z-R relationships from near-surface radar reflectivity to precipitation rates. These potential uncertainties are examined by using collocated ground based radar reflectivity and precipitation retrievals.

Enterobius vermicularis infestation leading to Meckel's diverticulitis in an adolescent boy: An extremely rare presentation.

PubMed

Sharma, Manupriya; Kaul, Rashmi; Chander, Bal

2018-01-01

Enterobius vermicularis is an intestinal nematode commonly affecting children worldwide. Its transmission is by feco-oral route. Meckel's diverticulitis due to E. vermicularis infestation is an extremely rare presentation. An 11-year-old boy presented with acute abdomen. During surgery inflamed Meckel's diverticulum (M.D) was seen. Histopathology examination of specimen revealed E. vermicularis . Till date, only one case of E. vermicularis infestation of M.D is reported around five decades ago. This histopathological confirmation is extremely important as the required treatment (Mebendazole) of the infected case along with household contacts can prevent the spread of infection and may avoid surgery in known contacts.

Guillain-Barré Syndrome: A Variant Consisting of Facial Diplegia and Paresthesia with Left Facial Hemiplegia Associated with Antibodies to Galactocerebroside and Phosphatidic Acid

PubMed Central

Nishiguchi, Sho; Branch, Joel; Tsuchiya, Tsubasa; Ito, Ryoji; Kawada, Junya

2017-01-01

Patient: Male, 54 Final Diagnosis: Guillain-Barré syndrome Symptoms: Paresthesia of extremities • unilateral facial palsy Medication: — Clinical Procedure: — Specialty: Neurology Objective: Unusual clinical course Background: A rare variant of Guillain-Barré syndrome (GBS) consists of facial diplegia and paresthesia, but an even more rare association is with facial hemiplegia, similar to Bell’s palsy. This case report is of this rare variant of GBS that was associated with IgG antibodies to galactocerebroside and phosphatidic acid. Case Report: A 54-year-old man presented with lower left facial palsy and paresthesia of his extremities, following an upper respiratory tract infection. Physical examination confirmed lower left facial palsy and paresthesia of his extremities with hyporeflexia of his lower limbs and sensory loss of all four extremities. The differential diagnosis was between a variant of GBS and Bell’s palsy. Following initial treatment with glucocorticoids followed by intravenous immunoglobulin (IVIG), his sensory abnormalities resolved. Serum IgG antibodies to galactocerebroside and phosphatidic acid were positive in this patient, but not other antibodies to glycolipids or phospholipids were found. Five months following discharge from hospital, his left facial palsy had improved. Conclusions: A case of a rare variant of GBS is presented with facial diplegia and paresthesia and with unilateral facial palsy. This rare variant of GBS may which may mimic Bell’s palsy. In this case, IgG antibodies to galactocerebroside and phosphatidic acid were detected. PMID:28966341

[A relational database to store Poison Centers calls].

PubMed

Barelli, Alessandro; Biondi, Immacolata; Tafani, Chiara; Pellegrini, Aristide; Soave, Maurizio; Gaspari, Rita; Annetta, Maria Giuseppina

2006-01-01

Italian Poison Centers answer to approximately 100,000 calls per year. Potentially, this activity is a huge source of data for toxicovigilance and for syndromic surveillance. During the last decade, surveillance systems for early detection of outbreaks have drawn the attention of public health institutions due to the threat of terrorism and high-profile disease outbreaks. Poisoning surveillance needs the ongoing, systematic collection, analysis, interpretation, and dissemination of harmonised data about poisonings from all Poison Centers for use in public health action to reduce morbidity and mortality and to improve health. The entity-relationship model for a Poison Center relational database is extremely complex and not studied in detail. For this reason, not harmonised data collection happens among Italian Poison Centers. Entities are recognizable concepts, either concrete or abstract, such as patients and poisons, or events which have relevance to the database, such as calls. Connectivity and cardinality of relationships are complex as well. A one-to-many relationship exist between calls and patients: for one instance of entity calls, there are zero, one, or many instances of entity patients. At the same time, a one-to-many relationship exist between patients and poisons: for one instance of entity patients, there are zero, one, or many instances of entity poisons. This paper shows a relational model for a poison center database which allows the harmonised data collection of poison centers calls.

Genetics of rare mesenchymal tumors: implications for targeted treatment in DFSP, ASPS, CCS, GCTB and PEComa.

PubMed

Rutkowski, Piotr; Przybył, Joanna; Świtaj, Tomasz

2014-08-01

Soft tissue and bone sarcomas comprise a heterogeneous group of mesenchymal tumors that include roughly 130 distinct diagnostic entities. Many of them are exceptionally rare, with only few cases diagnosed worldwide each year. Development of novel targeted treatment in this group of tumors is of special importance since many sarcoma subtypes are resistant to conventional chemotherapy and the effective therapeutic options are limited. In this review we aim to discuss the molecular implications for targeted therapy in selected rare soft tissue and bone sarcoma subtypes, including dermatofibrosarcoma protuberans (DFSP), alveolar soft part sarcoma (ASPS), clear cell sarcoma (CCS), giant cell tumor of bone (GCTB) and perivascular epithelioid cell neoplasms (PEComas). This article is part of a Directed Issue entitled: Rare cancers. Copyright © 2014 Elsevier Ltd. All rights reserved.

Primary signet ring cell carcinoma of the appendix: A rare case report and our 18-year experience

PubMed Central

Ko, Yoon Ho; Jung, Chan-Kwon; Oh, Soon Nam; Kim, Tae Hee; Won, Hye Sung; Kang, Jin Hyoung; Kim, Hyung Jin; Kang, Won Kyung; Oh, Seong Taek; Hong, Young Seon

2008-01-01

Primary adenocarcinoma of the appendix is a rare malignancy that constitutes < 0.5% of all gastrointestinal neoplasms. Moreover, primary signet ring cell carcinoma of the appendix is an exceedingly rare entity. We have encountered 15 cases of primary appendiceal cancer among 3389 patients who underwent appendectomy over the past 18 years. In the present report, we describe a rare case of primary signet ring cell carcinoma of the appendix with ovarian metastases and unresectable peritoneal dissemination occurring in a 67-year-old female patient. She underwent appendectomy and bilateral salpingo-oophorectomy with a laparoscopy procedure. She then received palliative systemic chemotherapy with 12 cycles of oxaliplatin, 5-fluorouracil, and leucovorin (FOLFOX-4). The patient currently is well without progression of disease 12 mo after beginning chemotherapy. PMID:18837098

Extreme obesity is associated with variation in genes related to the circadian rhythm of food intake and hypothalamic signaling.

PubMed

Mariman, Edwin C M; Bouwman, Freek G; Aller, Erik E J G; van Baak, Marleen A; Wang, Ping

2015-06-01

The hypothalamus is important for regulation of energy intake. Mutations in genes involved in the function of the hypothalamus can lead to early-onset severe obesity. To look further into this, we have followed a strategy that allowed us to identify rare and common gene variants as candidates for the background of extreme obesity from a relatively small cohort. For that we focused on subjects with a well-selected phenotype and on a defined gene set and used a rich source of genetic data with stringent cut-off values. A list of 166 genes functionally related to the hypothalamus was generated. In those genes complete exome sequence data from 30 extreme obese subjects (60 genomes) were screened for novel rare indel, nonsense, and missense variants with a predicted negative impact on protein function. In addition, (moderately) common variants in those genes were analyzed for allelic association using the general population as reference (false discovery rate<0.05). Six novel rare deleterious missense variants were found in the genes for BAIAP3, NBEA, PRRC2A, RYR1, SIM1, and TRH, and a novel indel variant in LEPR. Common variants in the six genes for MBOAT4, NPC1, NPW, NUCB2, PER1, and PRRC2A showed significant allelic association with extreme obesity. Our findings underscore the complexity of the genetic background of extreme obesity involving rare and common variants of genes from defined metabolic and physiologic processes, in particular regulation of the circadian rhythm of food intake and hypothalamic signaling. Copyright © 2015 the American Physiological Society.

Excavating the Cityscape through Urban Tales and Local Archives

ERIC Educational Resources Information Center

Bey, Sharif

2013-01-01

A "cityscape" is defined as an artistic representation of an urban environment. Artistic representations can take shape through narrative, mythology, performance, or visual metaphor. Cities are extremely complex and dynamic entities, offering substantial assets toward the re-envisioning of art education in contemporary society. In this…

Vulvar lymphangioma circumscriptum: a rare complication of therapy for squamous cell carcinoma of the cervix

DOE Office of Scientific and Technical Information (OSTI.GOV)

LaPolla, J.; Foucar, E.; Leshin, B.

1985-11-01

The clinical and pathological features of a case of multifocal lymphangioma circumscriptum of the vulva are reported in a patient with chronic lymphedema of a lower extremity. Ten years previously the patient had been treated for squamous cell carcinoma of the cervix. Although lymphangioma circumscriptum is an extremely rare complication of altered lymphatic drainage, the presence of multiple noninflammatory vesicular appearing lesions in this setting should suggest the correct diagnosis.

Ectopic Male Breast Cancer: A Case Report

PubMed Central

Samanta, Dipti Rani; Upadhyay, Ashish; Sheet, Saikat; Senapati, Surendra Nath

2015-01-01

Carcinoma of male breast constitutes 1% of total breast malignancy. Carcinoma arising from ectopic breast tissue in male is an extremely rare entity and can be misdiagnosed. Ectopic breast tissue may be supernumerary or aberrant one. Despite morphologic difference, ectopic breast tissue presents characteristics analogous to orthoptic breast in terms of functional and pathologic degeneration. Most of the ectopic breast tissue occurs in thoracic or abdominal portion of milk line. If found in a location outside the milk line, it proves a diagnostic dilemma. We are reporting a case of 60-year-old male who presented with a fixed mass of size 10cm×8cm, in right chest wall infraclavicular area of 6 months duration. Histopathology of the mass revealed invasive duct carcinoma. He had no evidence of malignant or occult primary lesion in the bilateral mammary glands. Due to the paucity of the literature, incidence of ectopic male breast cancer and its management is not well understood. There is high probability of misdiagnosis of this disease. To the best of our knowledge this is the first described case of ectopic male breast cancer in the chest wall, not along the milk line, which is being reported here for documentation. PMID:26436033

Intracranial meningeal hemangiopericytoma: Recurrences at the initial and distant intracranial sites and extraneural metastases to multiple organs

PubMed Central

WEI, GUANGQUAN; KANG, XIAOWEI; LIU, XIANPING; TANG, XING; LI, QINLONG; HAN, JUNTAO; YIN, HONG

2015-01-01

Regardless of the controversial pathogenesis, intracranial meningeal hemangiopericytoma (M-HPC) is a rare, highly cellular and vascularized mesenchymal tumor that is characterized by a high tendency for recurrence and extraneural metastasis, despite radical excision and postoperative radiotherapy. M-HPC shares similar clinical manifestations and radiological findings with meningioma, which causes difficulty in differentiation of this entity from those prognostically favorable mimics prior to surgery. Treatment of M-HPC, particularly in metastatic settings, remains a challenge. A case is described of primary M-HPC with recurrence at the initial and distant intracranial sites and extraneural multiple-organ metastases in a 36-year-old female. The metastasis of M-HPC was extremely extensive, and to the best of our knowledge this is the first case of M-HPC with delayed metastasis to the bilateral kidneys. The data suggests that preoperative computed tomography and magnetic resonance imaging could provide certain diagnostic clues and useful information for more optimal treatment planning. The results may imply that novel drugs, such as temozolomide and bevacizumab, as a component of multimodality therapy of M-HPC may deserve further investigation. PMID:26171177

Intramedullary Solitary Fibrous Tumor--A Benign Form of Hemangiopericytoma? Case Report and Review of the Literature.

PubMed

Bruder, Markus; Tews, Dominique; Mittelbronn, Michel; Capper, David; Seifert, Volker; Marquardt, Gerhard

2015-07-01

Solitary fibrous tumors (SFTs) are benign tumors of the soft tissue occurring anywhere in the human body but arise predominantly in the visceral pleura. SFTs of the central nervous system are rare, especially when they occur within the spinal cord. We present a case of an 83-year-old female patient presenting with acute spastic paralysis of the lower extremities after a history of progressive weakness and incontinence. Magnetic resonance imaging (MRI) findings were typical for meningioma, but an intradural, mainly intramedullary tumor was found at the first operation. A second operation was performed under neurophysiological monitoring, and complete removal of the tumor was achieved. Neurological conditions improved after the procedure, but the patient remained paraparetic. Histological and immunohistochemical findings revealed an SFT. There is evidence that SFTs and hemangiopericytomas (HPCs) are not different entities but should be considered as different graduations of a common spectrum. The extent of resection is a prognostic factor for recurrence-free survival in SFT; therefore we recommend surgery with complete resection whenever possible depending on the results of mandatory intraoperative neurophysiological monitoring in these cases. Copyright © 2015 Elsevier Inc. All rights reserved.

Phenytoin Induced Erythema Multiforme after Cranial Radiation Therapy

PubMed Central

Tekkök, İsmail Hakkı

2015-01-01

The prophylactic use of phenytoin during and after brain surgery and cranial irradiation is a common measure in brain tumor therapy. Phenytoin has been associated with variety of adverse skin reactions including urticaria, erythroderma, erythema multiforme (EM), Stevens-Johnson syndrome, and toxic epidermal necrolysis. EM associated with phenytoin and cranial radiation therapy (EMPACT) is a rare specific entity among patients with brain tumors receiving radiation therapy while on prophylactic anti-convulsive therapy. Herein we report a 41-year-old female patient with left temporal glial tumor who underwent surgery and then received whole brain radiation therapy and chemotherapy. After 24 days of continous prophylactic phenytoin therapy the patient developed minor skin reactions and 2 days later the patient returned with generalized erythamatous and itchy maculopapuler rash involving neck, chest, face, trunk, extremities. There was significant periorbital and perioral edema. Painful mucosal lesions consisting of oral and platal erosions also occurred and prevented oral intake significantly. Phenytoin was discontinued gradually. Systemic admistration of corticosteroids combined with topical usage of steroids for oral lesions resulted in complete resolution of eruptions in 3 weeks. All cutaneous lesions in patients with phenytoin usage with the radiotherapy must be evoluated with suspicion for EM. PMID:26361537

Conservative management of retained cardiac missiles: case report and literature review.

PubMed

Lundy, Jonathan B; Johnson, Eric K; Seery, Jason M; Pham, Tach; Frizzi, James D; Chasen, Arthur B

2009-01-01

Intracardiac foreign bodies may be caused by direct penetrating trauma, embolization from injury to another area of the body, or iatrogenically from fragments of intravascular access devices. Penetrating cardiac trauma commonly presents with a hemodynamically unstable patient necessitating emergent life-saving procedures. Missile embolization to the heart can occur after injury to systemic and pulmonary veins. Central venous access devices may fracture after placement and embolize. Especially in the setting of penetrating cardiac trauma, these intracardiac foreign bodies require expeditious removal. Limited data exist regarding the conservative management of intracardiac material after trauma. We present the case of a 42-year-old male soldier injured in a mortar blast in Iraq who suffered multiple injuries to include a right hemopneumothorax and soft tissue injuries to the chest and both lower extremities that was found to have a 2-cm by 2-mm intracardiac metal fragment. Additional imaging revealed a metallic fragment localized to the interatrial septum. The patient suffered no adverse sequelae from nonoperative management. A review of the world literature regarding the subject of posttraumatic retained cardiac missiles (RCMs) is also included to help future surgeons in the management of this rare entity.

CRTC1/MAML2 fusion transcript in central mucoepidermoid carcinoma of mandible--diagnostic and histogenetic implications.

PubMed

Bell, Diana; Holsinger, Christopher F; El-Naggar, Adel K

2010-12-01

Intraosseous salivary gland carcinomas are extremely rare, comprising only 2% to 3% of all mucoepidermoid carcinomas (MECs) reported. The t(11;19) translocation and its CRTC1/MAML1 fusion transcript have been identified in MEC at different sites and are believed to be associated with the development of a subset of these tumors. However, the status of the fusion transcript has not been reported in intraosseous MEC. Here, we report 3 examples of central MEC of the mandible, including a case with a history of primary retromolar MEC. Reverse transcriptase-polymerase chain reaction and DNA sequencing analyses of the microdissected components of these tumors were used for the detection and verification of the fusion transcript. We identified, for the first time, the t(11;19) fusion gene transcript in central MEC, including in the previous primary retromolar MEC. No fusion transcript was detected in the second primary noncentral MEC or in another central MEC. The results indicate that central MEC can manifest the fusion transcript. This finding may have diagnostic and histogenetic roles in the future analysis of this entity. Published by Elsevier Inc.

Mesenteric extraskeletal osteosarcoma with telangiectatic features: a case report.

PubMed

Lee, Kyung Hwa; Joo, Jae Kyoon; Kim, Dong Yi; Lee, Ji Shin; Choi, Chan; Lee, Jae Hyuk

2007-05-15

Extraskeletal osteosarcoma is a rare malignant mesenchymal tumor, with a predominant occurrence in the extremities. Only two cases of mesenteric extraskeletal osteosarcoma have been documented. We describe an unusual case of extraskeletal osteosarcoma with telangiectatic features occurring in the mesentery. A 67-year-old male presented with blood-tinged stool of 1-month's duration. On colonoscopy, a solid mass was detected protruding from the colon wall. Computed tomography showed a 15 x 9.7 cm heterogeneously enhancing mass, with mottled calcification and a cystic portion, occupying the left upper quadrant of the abdominal cavity. Curative resection of the tumor was performed, and the excised tumor was composed of large multilocular cysts containing old hematomas and necrotic debris. The histology revealed an osteosarcoma showing osteoid formation and blood-filled spaces lined with atypical cells. Despite postoperative chemotherapy, he developed a recurrent peritoneal mass and multiple lung metastases 3 months postoperatively. Given the rarity of cases of mesenteric extraskeletal osteosarcoma, its biologic behavior at this location remains to be determined. However, extraskeletal osteosarcoma with telangiectatic features is an uncommon entity to be recognized because of the possible fatal outcome related to the tumors.

Mesenteric extraskeletal osteosarcoma with telangiectatic features: a case report

PubMed Central

Lee, Kyung Hwa; Joo, Jae Kyoon; Kim, Dong Yi; Lee, Ji Shin; Choi, Chan; Lee, Jae Hyuk

2007-01-01

Background Extraskeletal osteosarcoma is a rare malignant mesenchymal tumor, with a predominant occurrence in the extremities. Only two cases of mesenteric extraskeletal osteosarcoma have been documented. We describe an unusual case of extraskeletal osteosarcoma with telangiectatic features occurring in the mesentery. Case presentation A 67-year-old male presented with blood-tinged stool of 1-month's duration. On colonoscopy, a solid mass was detected protruding from the colon wall. Computed tomography showed a 15 × 9.7 cm heterogeneously enhancing mass, with mottled calcification and a cystic portion, occupying the left upper quadrant of the abdominal cavity. Curative resection of the tumor was performed, and the excised tumor was composed of large multilocular cysts containing old hematomas and necrotic debris. The histology revealed an osteosarcoma showing osteoid formation and blood-filled spaces lined with atypical cells. Despite postoperative chemotherapy, he developed a recurrent peritoneal mass and multiple lung metastases 3 months postoperatively. Conclusion Given the rarity of cases of mesenteric extraskeletal osteosarcoma, its biologic behavior at this location remains to be determined. However, extraskeletal osteosarcoma with telangiectatic features is an uncommon entity to be recognized because of the possible fatal outcome related to the tumors. PMID:17504524

Neuronal migration disorders in microcephalic osteodysplastic primordial dwarfism type I/III

PubMed Central

Juric-Sekhar, Gordana; Kapur, Raj P.; Glass, Ian A.; Murray, Mitzi L.; Parnell, Shawn E.

2011-01-01

Microcephalic osteodysplastic primordial dwarfism (MOPD) is a rare microlissencephaly syndrome, with at least two distinct phenotypic and genetic types. MOPD type II is caused by pericentrin mutations, while types I and III appear to represent a distinct entity (MOPD I/III) with variably penetrant phenotypes and unknown genetic basis. The neuropathology of MOPD I/III is little understood, especially in comparison to other forms of lissencephaly. Here, we report postmortem brain findings in an 11-month-old female infant with MOPD I/III. The cerebral cortex was diffusely pachygyric, with a right parietal porencephalic lesion. Histologically, the cortex was abnormally thick and disorganized. Distinct malformations were observed in different cerebral lobes, as characterized using layer-specific neuronal markers. Frontal cortex was severely disorganized and coated with extensive leptomeningeal glioneuronal heterotopia. Temporal cortex had a relatively normal 6-layered pattern, despite cortical thickening. Occipital cortex was variably affected. The corpus callosum was extremely hypoplastic. Brainstem and cerebellar malformations were also present, as well as old necrotic foci. Findings in this case suggest that the cortical malformation in MOPD I/III is distinct from other forms of pachygyria–lissencephaly. PMID:20857301

A large primary vaginal calculus in a woman with paraplegia.

PubMed

Avsar, Ayse Filiz; Keskin, Huseyin Levent; Catma, Tuba; Kaya, Basak; Sivaslioglu, Ahmet Akın

2013-01-01

The study aimed to report a primary vaginal stone, an extremely rare entity, without vesicovaginal fistula in a woman with disability. We describe the case of a large primary vaginal calculus in a 22-year-old woman with paraplegia, which, surprisingly, was not diagnosed until she was examined under general anesthesia during a preparation for laparoscopy for an adnexal mass. The stone had not been identified by physical examination with the patient in a recumbent position or by transabdominal ultrasonography and pelvic tomography during the preoperative preparation. Vaginoscopy was not performed because the vagina was completely filled with the mass. As a result of its size and hard consistency, a right-sided episiotomy was performed and a 136-g stone was removed using ring forceps. A vesicovaginal fistula was excluded. There was no evidence of a foreign body or other nidus on the cut section of the stone, and it was determined to be composed of 100% struvite (ammonium magnesium phosphate). Culture of urine obtained via catheter showed Escherichia coli. After the surgical removal of the calculus without complications, a program of intermittent catheterization was started. The follow-up period was uneventful, and the patient was symptom free at 6 months after the operation. We postulate that the calculus formed as a consequence of urinary contamination of the vagina in association with incontinence and prolonged maintenance in a recumbent posture. This report is important because it highlights that, although vaginal stones are very rare, their possibility should be considered in the differential diagnosis of individuals with long-term paraplegia.

Primary epidural hemangiopericytoma in the lumbar spine: a case report.

PubMed

Ijiri, Kosei; Yuasa, Shinya; Yone, Kazunori; Matsunaga, Shunji; Ryoki, Yoshihiro; Taniguchi, Noboru; Yonezawa, Suguru; Komiya, Setsuro

2002-04-01

A case report of primary epidural hemangiopericytoma in the lumbar spine and a review of the literature are presented. To present the result of pathologic diagnosis using immunohistochemical staining and the treatment of spinal hemangiopericytoma. Spinal hemangiopericytoma is a very rare soft tissue tumor with specific pathologic features and a clinical course featuring high rates of recurrence and metastasis. A 39-year-old woman reported numbness in both legs. Neither sensory abnormalities nor muscle weakness was present in her lower extremities. Magnetic resonance imaging showed a tumor dorsal to the thecal sac at L1-L2. After L1 and L2 laminectomy, the tumor with its dural base was resected en bloc. The patient's clinical and neurologic symptoms disappeared after surgery. Microscopic examination showed oval- or spindle-shaped cells with slightly acidic cytoplasm and oval nuclei. Silver staining emphasized fibers around tumor cells. The test results for the tumor cells were positive for vimentin staining, but negative for alpha-TM staining using thrombomodulin, a marker for endothelial cells. On the basis of these pathologic findings, the tumor was diagnosed as a hemangiopericytoma, a type of tumor composed of mesenchymal hemangiopericytes. Neither recurrence nor metastasis of the tumor was found during the 2-year follow-up period after surgery. Soft tissue hemangiopericytoma is a well-recognized entity considered to be an aggressive neoplasm with a high rate of recurrence and a propensity to metastasize. Immunohistochemical investigation was essential for the diagnosis of this tumor. Although hemangiopericytoma very rarely occurs in the spine, surgeons treating patients with this tumor should be aware of its metastatic potential.

Ewing's sarcoma of the cervix, a diagnostic dilemma: a case report and review of the literature.

PubMed

Mashriqi, Nazia; Gujjarlapudi, Jaya Kranthi; Sidhu, Jagmohan; Zur, Michael; Yalamanchili, Madhuri

2015-11-09

Ewing's sarcoma belongs to a spectrum of neoplastic diseases known as Ewing's family of tumors. This family of tumors is usually seen in osseous sites. Ewing's sarcoma of the cervix is extremely rare, with only 18 cases reported in the English literature. The immunohistochemical profile of Ewing's sarcoma overlaps with other malignancies like small cell carcinoma. The rarity and complex pathologic picture of Ewing's sarcoma of the cervix creates the potential for misdiagnosis. Hence, we believe this case needs to be reported to add to the available literature. A 49-year-old white Caucasian woman presented with vaginal bleeding. A pelvic examination revealed a cystic lesion arising from her cervix. Examination of a biopsy specimen revealed a poorly differentiated neoplasm, with sheets of small hyperchromatic cells, staining weakly for neuroendocrine markers. She was diagnosed with small cell carcinoma and started on concurrent chemotherapy and radiation. However, additional positive immunostaining for CD99 was strongly suggestive of Ewing's sarcoma. Fluorescence in situ hybridization revealed ESWR1 gene rearrangement, confirming Ewing's sarcoma. Our patient underwent surgery, which confirmed stage IIB Ewing's sarcoma. She received adjuvant chemotherapy but died from progressive metastatic disease after four cycles. With early diagnosis and appropriate treatment, Ewing's sarcoma of the cervix can be a potentially curable disease. However, owing to overlapping clinical and histopathological features, the diagnosis poses a challenge to oncologists and pathologists. This article guides pathologists to consider Ewing's sarcoma in the differential diagnosis of small cell carcinoma with weak staining for neuroendocrine markers. This literature review will benefit oncologists encountering this rare entity.

Tuberculous peritonitis: CT appearance

DOE Office of Scientific and Technical Information (OSTI.GOV)

Hanson, R.D.; Hunter, T.B.

1985-05-01

Rare, sporadic cases of tuberculous peritonitis do occur in the United States and other advanced countries. Because there are few descriptions of the CT appearance of the peritoneal forms of tuberculous (TB), this report illustrates a case of tuberculous peritonitis with prominent CT findings and discusses the differentiation of this entity from other, more common diseases.

Giant spigelian hernia due to abdominal wall injury: a case report.

PubMed

Topal, Ersun; Kaya, Ekrem; Topal, Naile Bolca; Sahin, Ilker

2007-02-01

Spigelian hernia is a rare clinical entity. It is difficult to diagnose due to its location. In this article we report the case of a giant spigelian hernia consequent to abdominal wall injury. The neck of the hernia was 10 cm in diameter. We repaired this hernia with a polypropylene mesh.

Evolution caused by extreme events.

PubMed

Grant, Peter R; Grant, B Rosemary; Huey, Raymond B; Johnson, Marc T J; Knoll, Andrew H; Schmitt, Johanna

2017-06-19

Extreme events can be a major driver of evolutionary change over geological and contemporary timescales. Outstanding examples are evolutionary diversification following mass extinctions caused by extreme volcanism or asteroid impact. The evolution of organisms in contemporary time is typically viewed as a gradual and incremental process that results from genetic change, environmental perturbation or both. However, contemporary environments occasionally experience strong perturbations such as heat waves, floods, hurricanes, droughts and pest outbreaks. These extreme events set up strong selection pressures on organisms, and are small-scale analogues of the dramatic changes documented in the fossil record. Because extreme events are rare, almost by definition, they are difficult to study. So far most attention has been given to their ecological rather than to their evolutionary consequences. We review several case studies of contemporary evolution in response to two types of extreme environmental perturbations, episodic (pulse) or prolonged (press). Evolution is most likely to occur when extreme events alter community composition. We encourage investigators to be prepared for evolutionary change in response to rare events during long-term field studies.This article is part of the themed issue 'Behavioural, ecological and evolutionary responses to extreme climatic events'. © 2017 The Author(s).

Sinonasal hemangiopericytoma.

PubMed

Hofmann, V; Holzhausen, H J; Koesling, S; Knipping, S

2010-01-01

Hemangiopericytoma (HPC) is a rare entity that is found in only 1% of vascular tumours. Only 5% of HPC are localized in the nasal cavity or paranasal sinuses. The exact incidence is not stated in the literature. A case of a 76-year-old female patient is presented. As she suffered from stroke a cranial CT was performed and the tumour of the paranasal sinuses was diagnosed incidentally. The patient had a history of paranasal sinus surgery under local anaesthesia twenty years ago. The former histological diagnosis was stated as "angiofibroma with signs of proliferation ". The histopathologic diagnosis after endonasal sinus surgery was primarily a neoplasia with spindle-shaped cell formation. Just additional immunocytochemistry revealed the finding of primitive mesenchymal cells. This confirmed the diagnosis of a hemangiopericytoma. The two years follow-up showed no signs and symptoms of recurrent tumour on endoscopic examination and CT scans. Hemangiopericytoma is a rare endonasal or sinonasal tumour. Occasionally histological diagnosis is difficult. Its characteristics are marked cellularity, vascularity and a dense net of reticular fibres. The entity shows a considerable tendency to recurrence, malignant transformation and metastasizing. After complete sinonasal surgery a regular short term follow up is advisable.

Hypercalcemia as a rare presentation of angioimmunoblastic T cell lymphoma: a case report.

PubMed

Chams, Sana; Hajj Hussein, Inaya; El Sayegh, Skye; Chams, Nour; Zakaria, Khalid

2018-04-20

Angioimmunoblastic T cell lymphoma is a rare malignancy, accounting for only 2% of all non-Hodgkin lymphomas, first described in the 1970s and subsequently accepted as a distinct entity in the current World Health Organization classification. Due to the paucity of this disease, there is still no identifiable etiology, no consistent risk factors, and the pathogenesis remains unclear. An 83-year-old Caucasian man presented to an emergency department with palpitations and was found to have atrial fibrillation. During his hospitalization, he was found to have asymptomatic hypercalcemia with corrected calcium of 11.7. Ten days later while in rehabilitation, he started complaining of progressive fatigue and altered mental status was noted. He was found to have a calcium level of 15.5 and was admitted to the intensive care unit for management and further workup. He was found at that time to have, parathyroid hormone: < 1; 25 hydroxyvitamin D: 74; 1,25 dihydroxyvitamin D: 85.4; angiotensin-converting enzyme: 7; parathyroid hormone-related protein: < 2; and multiple myeloma workup was negative. Computed tomography of his chest and abdomen showed extensive retroperitoneal, pelvic, and mesenteric lymphadenopathy in addition to findings suggestive of peritoneal carcinomatosis. A right axillary lymph node biopsy showed immunohistochemical parameters consistent with angioimmunoblastic T cell lymphoma. After a lengthy discussion with his family, it was decided that no further treatment would be pursued. He had an aggressive course at the hospital during which he developed pleural effusions, ascites, and diffuse petechiae within 2 weeks; these were complications from his malignancy. Considering the poor outcomes of his aggressive disease, he decided to enroll in an out-patient hospice. He died within a few months as a result of cardiorespiratory arrest. This case illustrates a rare presentation of an extremely rare disease; that is, hypercalcemia in a patient who was later found to have angioimmunoblastic T cell lymphoma. Diagnosing angioimmunoblastic T cell lymphoma might be the most challenging part due to the wide array of clinical presentations, of which hypercalcemia accounts for only 1%. As seen in this case, most patients present in advanced stages of the disease with poor prognosis.

Mathematical aspects of assessing extreme events for the safety of nuclear plants

NASA Astrophysics Data System (ADS)

Potempski, Slawomir; Borysiewicz, Mieczyslaw

2015-04-01

In the paper the review of mathematical methodologies applied for assessing low frequencies of rare natural events like earthquakes, tsunamis, hurricanes or tornadoes, floods (in particular flash floods and surge storms), lightning, solar flares, etc., will be given in the perspective of the safety assessment of nuclear plants. The statistical methods are usually based on the extreme value theory, which deals with the analysis of extreme deviation from the median (or the mean). In this respect application of various mathematical tools can be useful, like: the extreme value theorem of Fisher-Tippett-Gnedenko leading to possible choices of general extreme value distributions, or the Pickands-Balkema-de Haan theorem for tail fitting, or the methods related to large deviation theory. In the paper the most important stochastic distributions relevant for performing rare events statistical analysis will be presented. This concerns, for example, the analysis of the data with the annual extreme values (maxima - "Annual Maxima Series" or minima), or the peak values, exceeding given thresholds at some periods of interest ("Peak Over Threshold"), or the estimation of the size of exceedance. Despite of the fact that there is a lack of sufficient statistical data directly containing rare events, in some cases it is still possible to extract useful information from existing larger data sets. As an example one can consider some data sets available from the web sites for floods, earthquakes or generally natural hazards. Some aspects of such data sets will be also presented taking into account their usefulness for the practical assessment of risk for nuclear power plants coming from extreme weather conditions.

Mucobilia in Association With a Biliary Cystadenocarcinoma of the Caudate Duct: A Rare Cause of Malignant Biliary Obstruction

PubMed Central

Chamberlain, Ronald S.

2000-01-01

Mucobilia is a rare condition characterized by the accumulation of abundant mucus within the intra- or extrahepatic biliary tree. A variety of hepatobiliary and pancreatic neoplasms are mucin producing and have been associated with the development of mucobilia including biliary mucinosis, biliary papillomatosis, mucin-producing cholangiocarcinoma (MPCC), or cystic neoplasms of the pancreas or biliary tree (cystadenoma or cystadenocarcinoma). We report the case of 46 year-old male with a biliary cystadenocarcinoma of the caudate lobe which resulted in chronic biliary obstruction and relapsing cholangitis. A review of the literature for both mucobilia and biliary cystadenocarcinoma is provided along with a discussion addressing the clinical presentation, diagnosis, treatment, and prognosis for this rare entity. PMID:10674751

Glial heterotopia of the orbit: a rare cause of proptosis.

PubMed

Bakhti, Souad; Terkmani, Fella; Tighilt, Nabila; Benmouma, Youcef; Boumehdi, Nazim; Djennas, Mohamed

2016-11-01

Glial heterotopia is defined as presence of normal glial tissue in an unusual location without connection with the brain. It is a very rare clinical entity occuring mostly in the head and neck region which is generally present at birth. Orbital location is very rare. We report a case of a 4-month-old girl presenting congenital proptosis with progressive increase. CT scan revealed an intraorbital mass without bony defect. The patient was operated, and resection was subtotal. Histologically, the tumor was composed of glial tissue with plexus choroid and pathologist concluded glial heterotopia. The child is under constant medical supervision because recurrences can be observed after incomplete resection; she had no new clinical signs at 18 months follow-up.

Gastric heterotopia in the rectum. A rare cause of ectopic gastric tissue.

PubMed

Salem, George A; Fazili, Javid; Ali, Tauseef

2017-03-01

Gastric heterotopia refers to the discovery of normal gastric tissue at foreign, unexpected sites. It has been described anywhere in the alimentary tract, even in the mediastinum, scrotum, and spinal cord. It is not uncommonly seen in the oesophagus or small intestine. However, large bowel lesions are rare, with the most common location of colonic lesions is the rectum. Although it is a rare entity, it may be the source for significant problems such as rectal bleeding, abdominal pain, deep rectal pain, and malignancy. Here, we report an additional case of gastric heterotopia in the rectum of a 56year old gentleman, and review the literature. Copyright © 2017 Pan-Arab Association of Gastroenterology. Published by Elsevier B.V. All rights reserved.

A rare case of suprahepatic gall bladder with phocomelia and pancytopenia: detected by tc-99m mebrofenin scintigraphy.

PubMed

Rather, Tanveeer Ah; Khan, Shoukat H; Singh, Manjeet; Choh, Naseer A

2013-01-01

The possibility of an ectopic gallbladder should always be considered whenever there is a failure to localize it in its normal anatomical position on routine imaging. Although a very rare entity, the anomalous position of gallbladder can result in misinterpretation of imaging findings and create clinical confusion. Awareness of such an anomaly facilitates proper diagnosis and subsequent management. The authors report a very rare case of suprahepatic gallbladder associated with phocomelia, pancytopenia, and splenomegaly in a young 25-year-old female. The suprahepatic gallbladder was initially visualized on Technetium-99m (Tc-99m) Mebrofenin radionuclide hepatobiliary scintigraphy. Subsequent magnetic resonance cholecystopancreatography (MRCP) was also done to confirm the diagnosis.

Rapid brain death caused by a cerebellar abscess with Fusobacterium nucleatum in a young man with drug abuse: a case report

PubMed Central

2014-01-01

Background Fusobacterium nucleatum is a strict anaerobic microorganism that causes disease entities such as periodontal and soft tissue abscesses, pulmonary and intraabdominal infections and very rarely intracerebral infections. Case presentation Here, we report the rare case of a previously healthy 25-year-old German man with a cerebellar abscess caused by Fusobacterium nucleatum that resulted in rapid brain death. Toxicological screening showed positivity for amphetamines and cannabis. The diagnosis was obtained by polymerase chain reaction amplification of bacterial deoxyribonucleic acid in cerebrospinal fluid. Conclusions In drug users clinicians should think about rare causes of brain abscesses/meningitis. Early diagnosis is necessary and justifies the use of molecular techniques. PMID:24915846

Case report of an unusual combination of purulent pericarditis and false aneurysm of the ascending aorta.

PubMed

Meier, David; Kirsch, Matthias; Qanadli, Salah Dine; Muller, Olivier; Fishman, Daniel; Trana, Catalina

2018-01-29

Purulent pericarditis is an uncommon entity, which is, in very rare cases, associated to infection of the aorta. We present the case of a 42-year-old male patient, who was admitted to hospital complaining of tiredness, diarrhea and leg edema. Clinical examination revealed a hypotensive and obviously shocked patient. He was ultimately diagnosed with a rare combination of purulent pericarditis followed by false aneurysm of the ascending aorta. He was successfully treated by surgical pericardial drainage, replacement of the ascending aorta and antibiotics. Mycotic aneurysms can rarely be associated with purulent pericarditis. Our literature review shows that there are two mechanisms explaining this association and that in most of the published cases infective endocarditis could not be demonstrated.

A Rare Case of Suprahepatic Gall Bladder with Phocomelia and Pancytopenia: Detected by Tc-99m Mebrofenin Scintigraphy

PubMed Central

Rather, Tanveeer Ah; Khan, Shoukat H.; Singh, Manjeet; Choh, Naseer A.

2013-01-01

The possibility of an ectopic gallbladder should always be considered whenever there is a failure to localize it in its normal anatomical position on routine imaging. Although a very rare entity, the anomalous position of gallbladder can result in misinterpretation of imaging findings and create clinical confusion. Awareness of such an anomaly facilitates proper diagnosis and subsequent management. The authors report a very rare case of suprahepatic gallbladder associated with phocomelia, pancytopenia, and splenomegaly in a young 25-year-old female. The suprahepatic gallbladder was initially visualized on Technetium-99m (Tc-99m) Mebrofenin radionuclide hepatobiliary scintigraphy. Subsequent magnetic resonance cholecystopancreatography (MRCP) was also done to confirm the diagnosis. PMID:23961256

Bilateral maxillary brown tumors in a patient with primary hyperparathyroidism: Report of a rare entity and review of literature

PubMed Central

Soundarya, N; Sharada, P; Prakash, Nilima; Pradeep, GL

2011-01-01

Brown tumors are erosive bony lesions caused by rapid osteoclastic activity and peritrabecular fibrosis due to hyperparathyroidism, resulting in a local destructive phenomenon. The classical “brown tumor” is commonly seen in ends of long bones, the pelvis and ribs. Facial involvement is rare and, when present, usually involves the mandible. We report a case of 60-year-old male with a rare initial presentation of primary hyperparathyroidism with bilateral maxillary brown tumors. The present case represents the third report of the bilateral maxillary brown tumors in a patient with primary hyperparathyroidism. Differential diagnosis is important for the right treatment choice. It should exclude other giant cell lesions that affect the maxillae. PMID:21731279

Rare presentation of ruptured syphilitic aortic aneurysm with pseudoaneurysm.

PubMed

de Almeida Feitosa, Israel Nilton; Dantas Leite Figueiredo, Magda; de Sousa Belem, Lucia; Evelin Soares Filho, Antônio Wilon

2015-11-01

We report the interesting case of a rare form of presentation of rupture of the ascending aorta with formation of a pseudoaneurysm, diagnosed following the development of a large mass on the surface of the chest over a period of about eight months. Serological tests were positive for syphilis. Echocardiography and computed tomography angiography were essential to confirm the diagnosis and therapeutic management. Cardiovascular syphilis is a rare entity since the discovery of penicillin. Rupture of an aortic aneurysm with formation of a pseudoaneurysm is a potentially fatal complication. The postoperative period was uneventful and the patient was discharged from hospital within days of surgery. Copyright © 2015 Sociedade Portuguesa de Cardiologia. Published by Elsevier España. All rights reserved.

Multimodality Imaging Approach towards Primary Aortic Sarcomas Arising after Endovascular Abdominal Aortic Aneurysm Repair: Case Series Report.

PubMed

Kamran, Mudassar; Fowler, Kathryn J; Mellnick, Vincent M; Sicard, Gregorio A; Narra, Vamsi R

2016-06-01

Primary aortic neoplasms are rare. Aortic sarcoma arising after endovascular aneurysm repair (EVAR) is a scarce subset of primary aortic malignancies, reports of which are infrequent in the published literature. The diagnosis of aortic sarcoma is challenging due to its non-specific clinical presentation, and the prognosis is poor due to delayed diagnosis, rapid proliferation, and propensity for metastasis. Post-EVAR, aortic sarcomas may mimic other more common aortic processes on surveillance imaging. Radiologists are rarely knowledgeable about this rare entity for which multimodality imaging and awareness are invaluable in early diagnosis. A series of three pathologically confirmed cases are presented to display the multimodality imaging features and clinical presentations of aortic sarcoma arising after EVAR.

Financing Facilities 101

ERIC Educational Resources Information Center

Sawyer, Thomas H.

2006-01-01

Successful sport entities have a variety of stable revenue sources to meet increasing expenses. There are three major categories of revenue sources: public, private, and a combination of public and private sources. It is extremely important for the sport manager to ensure that all varieties of revenue streams are maintained. The public sources of…

An extremely rare case of distal common bile duct adenocarcinoma in a 65-year-old male patient.

PubMed

Florescu, Lucian Mihai; Gheonea, Ioana Andreea; Ene, Dragoş; Florescu, Dan Nicolae; Braia, Natalia; Pirici, Daniel; Şandru, Vasile; Forţofoiu, Mircea Cătălin; Ciurea, Tudorel

2018-01-01

Cholangiocarcinoma is an extremely rare and highly aggressive primary malignancy of the biliary tract. The current report illustrates a rare case of distal common bile duct adenocarcinoma encountered in a 65-year-old male patient who was thoroughly investigated after presenting with a two weeks history of pain in the right hypochondrium, jaundice and unintentional weight loss (6 kg in two weeks). The medical team opted for a pancreaticoduodenectomy (Whipple procedure) managing to obtain negative resection margins of the tumor with a favorable immediate postoperative evolution. However, the surgical team was forced to reintervene twice due to complications caused mainly by the patient's disregard.

Atypical hydroa vacciniforme-like epstein-barr virus associated T/NK-cell lymphoproliferative disorder.

PubMed

Lee, Hye Young; Baek, Jin Ok; Lee, Jong Rok; Park, Sang Hui; Jeon, In Sang; Roh, Joo Young

2012-12-01

Epstein-Barr virus (EBV)-associated T-cell/natural killer (NK)-cell lymphoproliferative disorders (EBV-T/NK-LPDs) accompany severe chronic active EBV infection (CAEBV) or comprise the CAEBV disease entity. The CAEBV disease entity has the common feature of lymphoproliferation of T or NK cells (primarily), and B cells (rarely), with chronic activation of EBV infection. The disease is rare and seems to be more prevalent in East Asian countries. The CAEBV disease entity encompasses heterogenous disorders, including hydroa vacciniforme (HV), hypersensitivity to mosquito bites, EBV-associated hemophagocytic syndrome, NK/T-cell lymphoma, and NK-cell leukemia. Atypical HV-like eruptions are present on sun-exposed and nonexposed areas with facial edema, fever, and hepatosplenomegaly, unlike classic HV. Recently, it has been suggested that classic HV and atypical HV-like eruptions are variants within the same disease spectrum of EBV-T/NK-LPD. We report a Korean boy with an atypical HV-like eruption and various systemic manifestations, including fever, sore throat, abdominal pain, headaches, seizures, and hematologic abnormalities for 2 years. After the initial mild eruption, which resembled a viral exanthem, ulceronecrotic skin lesions gradually developed and were associated with a high-grade fever and constitutional symptoms. He had a CAEBV infection, which showed a predominant proliferation of NK cells with high EBV DNA levels in the peripheral blood. However, in the skin lesions, there were nonneoplastic CD4 T-cell infiltrations predominantly showing a monoclonal T-cell receptor-γ gene rearrangement and positive EBV in situ hybridization.

Small bowel intussusception due to a primary non-Hodgkin's lymphoma. An unusual presentation and clinical course.

PubMed

Salemis, Nikolaos S; Tsiambas, Evangelos; Liatsos, Christos; Karameris, Andreas; Tsohataridis, Efstathios

2010-12-01

Adult intussusception is a rare clinical entity accounting for 5% of all intussusceptions. Symptoms and signs are often vague and non-specific making a preoperative diagnosis difficult. The purpose of this study is to present a rare case of a jejuno-jejunal intussusception due to primary intestinal non-Hodgkin's lymphoma in a patient with an unusual clinical course. A 78-year-old man presented with a 1-month history of abdominal pain, nausea, epigastric fullness, and weight loss. Computed tomography scan and ultrasonography findings were suggestive of small bowel intussusception. Laparotomy revealed a jejuno-jejunal intussusception caused by a primary B cell non-Hodgkin's lymphoma 20 cm distal to the ligament of Treitz. Resection without prior reduction was performed. The patient refused postoperative adjuvant chemotherapy. Seven months later, he presented with upper gastrointestinal bleeding, and the diagnostic evaluation revealed gastric infiltration of large B cell non-Hodgkin's lymphoma. Despite chemotherapy, he died of disseminated progressive disease 7 months later. Adult jejuno-jejunal intussusception due to primary non-Hodgkin's lymphoma is a rare clinical entity. A high index of suspicion is needed as symptoms and signs are not pathognomonic. Appropriate investigations can lead to a prompt preoperative diagnosis. Resection without prior reduction is the treatment of choice. Our patient's refusal of postoperative adjuvant chemotherapy likely resulted in relapse of the disease in another part of the gastrointestinal tract.

Diagnosis and treatment of solid pseudopapillary tumor of the pancreas: experience of one single institution from Turkey

PubMed Central

2013-01-01

Background Solid pseudopapillary neoplasia (SPN) of the pancreas is an extremely rare epithelial tumor of low malignant potential. SPN accounts for less than 1% to 2% of exocrine pancreatic tumors. The aim of this study is to report our experience with SPN of the pancreas. It includes a summary of the current literature to provide a reference for the management of this rare clinical entity. Methods A retrospective analysis was performed of all patients diagnosed and treated for SPN in our hospital over the past 15 years (1998 to 2013). A database of the characteristics of these patients was developed, including age, gender, tumor location and size, treatment, and histopathological and immunohistochemical features. Results During this time period, 255 patients with pancreatic malignancy (which does not include ampulla vateri, distal choledocal and duodenal tumor) were admitted to our department, only 10 of whom were diagnosed as having SPN (2.5%). Nine patients were women (90%) and one patient was a man (10%). Their median age was 38.8 years (range 18 to 71). The most common symptoms were abdominal pain and dullness. Seven patients (70%) presented with abdominal pain or abdominal dullness and three patient (30%) were asymptomatic with the diagnosis made by an incidental finding on routine examination. Abdominal computed tomography and/or magnetic resonance imaging showed the typical features of solid pseudopapillary neoplasm in six (60%) of the patients. Four patients underwent distal pancreatectomy with splenectomy, one patient underwent a total mass excision, and one patient underwent total pancreatic resection. Two required extended distal pancreatectomy with splenectomy. Two underwent spleen-preserving distal pancreatectomy. Conclusions SPN is a rare neoplasm that primarily affects young women. The prognosis is favorable even in the presence of distant metastasis. Although surgical resection is generally curative, a close follow-up is advised in order to diagnose a local recurrence or distant metastasis and choose the proper therapeutic option for the patient. PMID:24289652

Malignant solitary fibrous tumor in the extremity: Cytopathologic findings

PubMed Central

Khanchel, Fatma; Driss, Maha; Mrad, Karima; Romdhane, Khaled Ben

2012-01-01

Malignant solitary fibrous tumor (SFT) is an extremely rare neoplasm. There are only rare published accounts of the cytopathologic features of this tumor. We report a case of a 59-year-old woman presented with a 10-year history of a right thigh mass. A preoperative fine needle aspiration (FNA) was performed. Smears were hypercellular, with cohesive and crowded tissue fragments, haphazard cell arrangements and many single cells. The tumor cells were polymorphous, plump spindled or round with often indented or bare nuclei. A differential diagnosis of low grade sarcoma was favored. The diagnosis of malignant SFT is extremely difficult on FNA and must be included in the differential diagnosis of spindle cell neoplasms. PMID:22787298

[Xanthoma disseminatum with asymptomatic multisystem involvement].

PubMed

Zinoun, M; Hali, F; Marnissi, F; Lazaar, S; Benchikhi, H

2015-04-01

Xanthogranulomas belong to non-Langerhans histiocytosis of the second group in the Histiocyte Society classification. They comprise a heterogeneous group of rare entities frequently involving cutaneous tropism. Xanthoma disseminatum belongs to this group of non-Langerhans histiocytosis. We report a case of xanthoma disseminatum (XD) in which localized skin and mucous impairment revealed multisystem involvement. A 28-year-old man presented with a two-year history of progressive yellow-orange and infiltrated xanthomatous papulonodular lesions of the face. Lesions of the oral mucosa and genital region were seen, with no functional repercussions. No ophthalmic or other complications were found. Histopathology showed a dense histiocytic infiltrate within the dermis with Touton giant cells, foamy multinucleated giant cells and inflammatory cells, without necrobiosis. Histiocytes were positive for CD68 but negative for CD1a. Gastric and lung involvement was seen and was confirmed at histology. Bone scintigraphy showed suspicious left ulnar hyperfixation suggesting bone involvement. No monoclonal gammopathy or diabetes insipidus was seen. Our patient was treated with corticosteroids 1mg/kg/day and thalidomide 100 mg/day. The outcome was marked by regression and exfiltration of the cutaneous lesions from the second week of treatment, with subsidence continuing at 3 months. This case involves a very rare form of xanthoma disseminatum. The localized facial skin lesions revealed multifocal non-Langerhans histiocytosis that was in fact asymptomatic. The diagnosis of XD was based on clinical, histological and immunohistochemical criteria. Xanthoma disseminatum is a non-Langerhans histiocytic proliferation first described by Montgomery in 1938. This rare entity is characterized by skin and mucous membrane xanthomatosis in which the facial involvement is common, together with diabetes insipidus and normal lipid metabolism. The prognosis is determined by the presence of mucosal xanthomas and visceral involvement. Thus, all xanthogranulomas involving multiple lesions warrant screening for visceral involvement. Diagnosis of this entity can be difficult and is usually based on clinical and histopathological findings. In addition, treatment is complex and non-consensual. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

Nodules on the hair: a rare case of mixed piedra.

PubMed

Khatu, Swapna S; Poojary, Shital Amin; Nagpur, Niranjan G

2013-10-01

Piedra is a superficial fungal infection of the hair shaft characterized by nodules along the hair shaft. Black piedra affects the scalp hair more frequently than white piedra. Occurrence of both types of piedra simultaneously in a patient is extremely rare. We describe here a rare case of mixed piedra of scalp hair.

The impact of rare variation on gene expression across tissues.

PubMed

Li, Xin; Kim, Yungil; Tsang, Emily K; Davis, Joe R; Damani, Farhan N; Chiang, Colby; Hess, Gaelen T; Zappala, Zachary; Strober, Benjamin J; Scott, Alexandra J; Li, Amy; Ganna, Andrea; Bassik, Michael C; Merker, Jason D; Hall, Ira M; Battle, Alexis; Montgomery, Stephen B

2017-10-11

Rare genetic variants are abundant in humans and are expected to contribute to individual disease risk. While genetic association studies have successfully identified common genetic variants associated with susceptibility, these studies are not practical for identifying rare variants. Efforts to distinguish pathogenic variants from benign rare variants have leveraged the genetic code to identify deleterious protein-coding alleles, but no analogous code exists for non-coding variants. Therefore, ascertaining which rare variants have phenotypic effects remains a major challenge. Rare non-coding variants have been associated with extreme gene expression in studies using single tissues, but their effects across tissues are unknown. Here we identify gene expression outliers, or individuals showing extreme expression levels for a particular gene, across 44 human tissues by using combined analyses of whole genomes and multi-tissue RNA-sequencing data from the Genotype-Tissue Expression (GTEx) project v6p release. We find that 58% of underexpression and 28% of overexpression outliers have nearby conserved rare variants compared to 8% of non-outliers. Additionally, we developed RIVER (RNA-informed variant effect on regulation), a Bayesian statistical model that incorporates expression data to predict a regulatory effect for rare variants with higher accuracy than models using genomic annotations alone. Overall, we demonstrate that rare variants contribute to large gene expression changes across tissues and provide an integrative method for interpretation of rare variants in individual genomes.

Gas gangrene without wound: both lower extremities affected simultaneously.

PubMed

Lu, Jun; Wu, Xiao-Tao; Kong, Xiang-Fei; Tang, Wen-Hao; Cheng, Jian-Ming; Wang, Hai-Liang

2008-10-01

Gas gangrene is a necrotizing soft tissue infection characterized by muscular necrosis and gas formation. It develops quickly and can cause septic shock and death. In adults, gas gangrene used to be a well-known complication of war wounds. Recently, cases of spontaneous or nontraumatic gas gangrene have been reported in both adults and children. We report a case of nontraumatic gas gangrene involving both the lower extremities simultaneously. Pathogenesis of this fatal soft tissue infection is discussed.We also review the diagnosis and treatment aspects of this entity.

A Challenging Case of Primary Breast Hodgkin's Lymphoma

PubMed Central

ZARNESCU, Narcis Octavian; ILIESIU, Andreea; PROCOP, Alexandru; TAMPA, Mircea; MATEI, Clara; SAJIN, Maria; COSTACHE, Mariana; DUMITRU, Adrian; LAZAROIU, Anca Mihaela

2015-01-01

Primary breast lymphoma (PBL) is a rare entity accounting for less than 1% of all breast malignancies. Diagnostic criteria for primary Hodgkin's lymphoma of the breast are: the presence of sufficient tissue for diagnosis, close interaction between mammary tissue and lymphomatous infiltrate and no evidence or prior diagnosis of widespread lymphoma. Our case illustrates an unusual presentation of Hodgkin's lymphoma of the breast: clinically as inflammatory breast cancer and core biopsy as granulomatous mastitis, the final diagnosis requiring surgical biopsy. Current information regarding this entity is scant, mainly build upon its rarity. In this paper we assess the clinical presentation, the step-by-step diagnosis, the treatment and the importance of immunohistochemistry in this uncommon condition. PMID:26225149

A Challenging Case of Primary Breast Hodgkin's Lymphoma.

PubMed

Zarnescu, Narcis Octavian; Iliesiu, Andreea; Procop, Alexandru; Tampa, Mircea; Matei, Clara; Sajin, Maria; Costache, Mariana; Dumitru, Adrian; Lazaroiu, Anca Mihaela

2015-03-01

Primary breast lymphoma (PBL) is a rare entity accounting for less than 1% of all breast malignancies. Diagnostic criteria for primary Hodgkin's lymphoma of the breast are: the presence of sufficient tissue for diagnosis, close interaction between mammary tissue and lymphomatous infiltrate and no evidence or prior diagnosis of widespread lymphoma. Our case illustrates an unusual presentation of Hodgkin's lymphoma of the breast: clinically as inflammatory breast cancer and core biopsy as granulomatous mastitis, the final diagnosis requiring surgical biopsy. Current information regarding this entity is scant, mainly build upon its rarity. In this paper we assess the clinical presentation, the step-by-step diagnosis, the treatment and the importance of immunohistochemistry in this uncommon condition.

Jadassohn Lewandowsky Syndrome: A Rare Entity

PubMed Central

Prasad, Anupama Manohar; Inakanti, Yugandar; Kumar, Shiva

2015-01-01

Pachyonychia congenita (PC) is a rare autosomal dominant genodermatosis characterized by hyperkeratosis affecting the nails and palmoplantar areas, oral leucokeratosis, and cystic lesions. It is classically subdivided into two major variants, PC-1 (Jadassohn–Lewandowski syndrome) and PC-2 (Jackson-Lawler syndrome), according to the localization of the mutations in the KRT6A/KRT16 or KRT6B/KRT17 genes, respectively. We report a 9-year-old male patient with a history of thickened, discolored nails, raised spiny skin lesions all over the body since birth with focal plantar keratoderma and absence of natal teeth. PMID:26538744

Chromoblastomycosis due to Fonsecaea pedrosoi: an old wine in a rare bottle.

PubMed

Khan, Sadia; Kumar, Anil; Vinod, Vivek; Prabhakar, Vivek; Eapen, Malini; Thomas, Jacob; Dinesh, Kavitha; Karim, Shamsul

2015-03-15

Chromoblastomycosis is a chronic subcutaneous mycosis commonly caused by Fonsecaea, Phialophora, and Cladophialophora spp. Out of these, Fonsecaea pedrosoi is the most common etiological agent, implicated in 70%-90% of the cases reported worldwide. The histopathological diagnosis of chromoblastomycosis is based on visualization of medlar or sclerotic bodies in the tissue. These sclerotic bodies divide by planar division. Rarely, budding is seen in these sclerotic bodies. As this entity can be confused with phaeohyphomycosis, it is important to be aware of such a presentation also. We report two cases of chromoblastomycosis that showed budding sclerotic bodies.

Solitary Fibrous Tumor of Retromolar Pad; a Rare Challenging Case

PubMed Central

Lotfi, Ali; Mokhtari, Sepideh; Moshref, Mohammad; Shahla, Maryam; Atarbashi Moghadam, Saede

2017-01-01

Solitary fibrous tumor has a wide spectrum of histopathologic features and many tumors show similar microscopic features. This similarity poses diagnostic challenges to the pathologists and immunohistochemical analysis is required in many cases. Moreover, it is a rare entity in orofacial region which consequently would make its diagnosis more challenging in oral cavity. The knowledge of various microscopic patterns of this tumor contributes to a proper diagnosis and prevents unnecessary treatment. This study reports a case of solitary fibrous tumor in the retromolar pad area and discusses its various histological features and differential diagnoses. PMID:28620640

Isolated Traumatic Bilateral First Rib Fracture: A Rare Entity

PubMed Central

Chatterjee, Souvik; Dey, Rajesh; Ray, Ramdip; Sinha, Santanu

2011-01-01

Since the first rib is protected very well by the overlying soft tissue and bones, its fracture is a major injury and a considerable force is required to do it. Therefore, an isolated fracture of this rib is unusual. A 28-year-old healthy female had an accident while crossing the road and a heavy object fell on her. She had severe pain behind her clavicle region and was immediately hospitalized and examined. Thorough clinical examination and different relevant investigations surprisingly disclosed isolated bilateral first rib fracture which is a very rare clinical condition. PMID:25191390

Rapid Resolution of Traumatic Pneumatocyst in the Cervical Spine: A Case Report

PubMed Central

Park, Jae Hoo; Kim, Hyeun Sung; Ko, Jae Ung

2015-01-01

Intraosseous pneumatocyst is a benign, gas-filled, cystic lesion, and is commonly encountered in iliac bone or sacrum. Other locations of this lesion following trauma are rare, and only a handful of isolated cases have been reported. The pathogenesis and etiologies of this uncommon entity are various and it can present a diagnostic challenge. Only four previous cases have described the natural course of intravertebral pneumatocysts. Here, the authors report a rare case of traumatic pneumatocyst, which resolved rapidly without further complication. Possible pathogenic mechanisms are discussed and reviews of literatures are included. PMID:26217389

Rapid Resolution of Traumatic Pneumatocyst in the Cervical Spine: A Case Report.

PubMed

Park, Jae Hoo; Kim, Seok Won; Kim, Hyeun Sung; Ko, Jae Ung

2015-06-01

Intraosseous pneumatocyst is a benign, gas-filled, cystic lesion, and is commonly encountered in iliac bone or sacrum. Other locations of this lesion following trauma are rare, and only a handful of isolated cases have been reported. The pathogenesis and etiologies of this uncommon entity are various and it can present a diagnostic challenge. Only four previous cases have described the natural course of intravertebral pneumatocysts. Here, the authors report a rare case of traumatic pneumatocyst, which resolved rapidly without further complication. Possible pathogenic mechanisms are discussed and reviews of literatures are included.

Dual Pathology of Mandible

PubMed Central

Rajurkar, Suday G.; Deshpande, Mohan D.; Kazi, Noaman; Jadhav, Dhanashree; Ranadive, Pallavi; Ingole, Snehal

2017-01-01

Aneurysmal Bone cyst (ABC)is a rare benign lesion of the bone which is infrequent in craniofacial region (12%). Rapid growth pattern causing bone expansion and facial asymmetry is a characteristic feature of ABC. Giant cell lesion is another distinct pathological entity. Here we present to you a rare case of dual pathology in an 11 year old female patient who presented with a large expansile lesion in the left hemimandible. All radiographic investigations were suggestive of ABC, aspiration of the lesion resulted in blood aspirate. However only after a histologic examination the dual nature of the lesion was revealed. PMID:29264307

Dual Pathology of Mandible.

PubMed

Rajurkar, Suday G; Deshpande, Mohan D; Kazi, Noaman; Jadhav, Dhanashree; Ranadive, Pallavi; Ingole, Snehal

2017-01-01

Aneurysmal Bone cyst (ABC)is a rare benign lesion of the bone which is infrequent in craniofacial region (12%). Rapid growth pattern causing bone expansion and facial asymmetry is a characteristic feature of ABC. Giant cell lesion is another distinct pathological entity. Here we present to you a rare case of dual pathology in an 11 year old female patient who presented with a large expansile lesion in the left hemimandible. All radiographic investigations were suggestive of ABC, aspiration of the lesion resulted in blood aspirate. However only after a histologic examination the dual nature of the lesion was revealed.

Monophasic synovial sarcoma of posterior pharyngeal wall: a rare case report with unique reconstruction using lateral trapezius flap.

PubMed

Agarwal, Mudit; Singh, Abhishek; Abrari, Adleeb; Singh, Naveen

2017-04-01

Synovial sarcoma is a rare entity to be encountered in the head and neck region and is always a challenge in terms of diagnosis, treatment planning and reconstruction of the surgical defect. In our case, we faced a similar challenge for diagnosis and also have ventured for lateral trapezius flap as a new reconstructive option for such bulky tumour defects. We hereby present a 25-year old male patient with monophasic synovial sarcoma of posterior pharyngeal wall. The radiological and clinicopathological features along with various diagnostic tests and treatment options are discussed.

Spermatic cord dedifferentiated liposarcoma presenting as a recurrent inguinal hernia.

PubMed

Crigger, Chad; Barnard, John; Zaslau, Stanley; Vos, Jeffrey A

2016-12-01

Paratesticular sarcomas are a rare entity and provide a unique clinical challenge due to their slow growing, often painless natural course. Adding to this challenge is the complex anatomy of the scrotum that allows these masses to mimic other conditions, including inguinal hernia, cysts, or fluid collections. We report such a case and our approach to an 83-year-old male with dedifferentiated liposarcoma of the spermatic cord with a history of inguinal hernia. In doing so, we highlight the need for thorough evaluation of scrotal masses and the management of these rare, though well-described, tumors.

De Garengeot's hernia: our experience of three cases and literature review

PubMed Central

Akbari, Khalid; Wood, Claire; Hammad, Ahmed; Middleton, Simon

2014-01-01

Groin hernia is a common surgical presentation and nearly half of the femoral hernias present acutely with strangulation. The hernia sac usually contains omentum or small bowel. Rarely, the appendix can herniate into the femoral canal. De Garengeot's hernia is the term used to describe the presence of appendicitis in the femoral hernia. Hernia explorations are performed by surgical trainees and encountering a De Garengeot's hernia can be challenging to manage. We report our experience of three cases of this rare entity and a literature review to improve our understanding for optimum management. PMID:25080546

Congenital Limb Deficiency Associated with Intellectual Disability: Unusual Presentation in Two Subjects.

PubMed

Raza, Muhammad Ummear; Ullah, Waheed; Malik, Sajid

2016-09-01

Congenital constriction ring (CCR) and symbrachydactyly are two distinct, rare, and heterogeneous limb deficiency conditions which affect the digits. Here, we report on two different individuals with an unusual presentation of limb deficiency accompanying intellectual disability (ID) and certain other malformations. In the first index female, CCR occurred with mild ID, squint eyes, obesity, and metatarsus adductus. The second index male was presented with symbrachydactyly, profound ID, and speech/hearing impairments. The association of limb deficiency conditions with these anomalies is very rare. Differential diagnosis and literature survey have been offered to establish the rarity of these entities.

Chondromyxoid fibroma of the mastoid facial nerve canal mimicking a facial nerve schwannoma.

PubMed

Thompson, Andrew L; Bharatha, Aditya; Aviv, Richard I; Nedzelski, Julian; Chen, Joseph; Bilbao, Juan M; Wong, John; Saad, Reda; Symons, Sean P

2009-07-01

Chondromyxoid fibroma of the skull base is a rare entity. Involvement of the temporal bone is particularly rare. We present an unusual case of progressive facial nerve paralysis with imaging and clinical findings most suggestive of a facial nerve schwannoma. The lesion was tubular in appearance, expanded the mastoid facial nerve canal, protruded out of the stylomastoid foramen, and enhanced homogeneously. The only unusual imaging feature was minor calcification within the tumor. Surgery revealed an irregular, cystic lesion. Pathology diagnosed a chondromyxoid fibroma involving the mastoid portion of the facial nerve canal, destroying the facial nerve.

Post-transplantation nephroptosis causing recurrent episodes of acute renal failure and hypertension secondary to intermittent vascular torsion of intraperitoneal renal allograft

PubMed Central

Dosch, Austin R.; Pahl, Madeleine; Reddy, Uttam; Foster, Clarence E.

2017-01-01

Abstract Nephroptosis is a rare complication in renal transplantation, but one with significant associated risk. Due to non-specific clinical features, there may be a substantial delay in diagnosis and loss of the transplanted kidney due to renal pedicle thrombosis. We present a case of post-transplantation nephroptosis after simultaneous pancreas and kidney transplant, which resulted in accelerated hypertension and reversible acute kidney injury >1 year after transplantation. Prompt detection of this rare entity leading to expeditious surgical intervention is necessary to preserve viability of the renal allograft. PMID:28560019

Isolated dorsal column dysfunction due to an intraspinal Osteolipoma - Case report and review of literature.

PubMed

Aiyer, Siddharth N; Shetty, Ajoy Prasad; Kanna, Rishi; Maheswaran, Anupama; Rajasekaran, S

2016-01-01

Osteolipoma is a rare variant of the ubiquitous lipoma. Published literature appears in the form of isolated case reports affecting soft tissue structures in the head, neck and rarely affecting the spine. We present a unique instance of an intraspinal osteolipoma in the cervical spine, without evidence of accompanying spinal dysraphism and an atypical clinical presentation of isolated dorsal column dysfunction. We describe the clinical presentation, operative procedure and post-operative outcomes with histopathological findings of this rare entity. A 61-year-old male presented with impaired dorsal column sensation due to an intraspinal extradural ossifying lesion in the cervical spinal canal. The patient underwent excision of the lesion with complete resolution of symptoms. Ossifying lesion in the spinal canal may be frequent finding on radiological imaging but presence of possible adipose tissue in the lesion should raise suspicion of rare clinical scenario of an osteolipoma.

Guillain-Barré Syndrome: A Variant Consisting of Facial Diplegia and Paresthesia with Left Facial Hemiplegia Associated with Antibodies to Galactocerebroside and Phosphatidic Acid.

PubMed

Nishiguchi, Sho; Branch, Joel; Tsuchiya, Tsubasa; Ito, Ryoji; Kawada, Junya

2017-10-02

BACKGROUND A rare variant of Guillain-Barré syndrome (GBS) consists of facial diplegia and paresthesia, but an even more rare association is with facial hemiplegia, similar to Bell's palsy. This case report is of this rare variant of GBS that was associated with IgG antibodies to galactocerebroside and phosphatidic acid. CASE REPORT A 54-year-old man presented with lower left facial palsy and paresthesia of his extremities, following an upper respiratory tract infection. Physical examination confirmed lower left facial palsy and paresthesia of his extremities with hyporeflexia of his lower limbs and sensory loss of all four extremities. The differential diagnosis was between a variant of GBS and Bell's palsy. Following initial treatment with glucocorticoids followed by intravenous immunoglobulin (IVIG), his sensory abnormalities resolved. Serum IgG antibodies to galactocerebroside and phosphatidic acid were positive in this patient, but not other antibodies to glycolipids or phospholipids were found. Five months following discharge from hospital, his left facial palsy had improved. CONCLUSIONS A case of a rare variant of GBS is presented with facial diplegia and paresthesia and with unilateral facial palsy. This rare variant of GBS may which may mimic Bell's palsy. In this case, IgG antibodies to galactocerebroside and phosphatidic acid were detected.

[Giant cystic lymphangioma breast. Report of a case with 20-year follow-up and review of the literature].

PubMed

Vargas-Hernández, Víctor Manuel; Tovar-Rodríguez, José María; Moreno-Eutimio, Mario Adán; Acosta-Altamirano, Gustavo

2014-01-01

Lymphangiomas are congenital malformations or acquired (secondary to trauma, infection or neoplasia) in the mammary gland, are extremely rare. These lesions tend to infiltrate surrounding tissues and malignant degeneration is extremely rare. Clinically manifests as benign masses, slow growing; diagnosed clinically and by imaging studies. Suegery with removal of the mass is performed for aesthetic reasons and to make differential diagnosis with other common injuries. Women 45 years of age with progressive increase in size of the left breast, breast trauma concerns and has no other symptoms.The histologic diagnosis was cystic lymphangioma giant left mammary gland. Lymphangiomas are uncommon lesions and extremely rare in the mammary gland, locally aggresive behavior and are benign, where abnormal lymphatic tissue has some ability to proliferate and accumulate large amounts of liquid, representing cystic appearance, as presented in our case. Local surgical excision is the treatment. In this first case of giant breast cystic lymphangioma reported in Mexico, which corroborates the benignity of the lesion.

Immunotactoid Glomerulopathy and Cryoglobulinemic Nephropathy: Two Entities with Many Similarities. A Unified Conceptual Approach.

PubMed

Herrera, Guillermo A; Ojemakinde, Kunle O; Turbat-Herrera, Elba A; Gu, Xin; Zeng, Xu; Iskandar, Samy S

2015-01-01

Immunotactoid glomerulopathy is a rare disorder that has been characterized at the ultrastructural level. Due to its rarity, there are few comprehensive studies relating to this disorder. Electron microscopy essentially characterizes this disease. The glomerular electron dense deposits which are typical of this condition consist of aggregates of highly organized microtubular structures of various diameters, but generally measuring 30-50 nm in width with a propensity to dispose themselves in parallel bundles intersecting in different planes. This study compares a large series of patients with cryoglobulinemic nephropathy with a series of patients with immunotactoid glomerulopathy to address whether there may be similarities that warrant considering these two entities part of a spectrum. This study reviews the clinicopathologic features of both entities and emphasizes ultrastructural findings that characterize them. Significant immunomorphologic overlap was found when these two disorders were compared in this study. There were also striking similarities in clinical presentation/behavior, laboratory findings and prognosis. Proteomic analysis has also demonstrated similar spectra for both entities. We postulate that immunotactoid glomerulopathy and cryoglobulinemic nephropathy are part of the spectrum of renal manifestations in patients with circulating cryoglobulins and renal disease.

A genome-wide analysis of putative functional and exonic variation associated with extremely high intelligence

PubMed Central

Spain, S L; Pedroso, I; Kadeva, N; Miller, M B; Iacono, W G; McGue, M; Stergiakouli, E; Smith, G D; Putallaz, M; Lubinski, D; Meaburn, E L; Plomin, R; Simpson, M A

2016-01-01

Although individual differences in intelligence (general cognitive ability) are highly heritable, molecular genetic analyses to date have had limited success in identifying specific loci responsible for its heritability. This study is the first to investigate exome variation in individuals of extremely high intelligence. Under the quantitative genetic model, sampling from the high extreme of the distribution should provide increased power to detect associations. We therefore performed a case–control association analysis with 1409 individuals drawn from the top 0.0003 (IQ >170) of the population distribution of intelligence and 3253 unselected population-based controls. Our analysis focused on putative functional exonic variants assayed on the Illumina HumanExome BeadChip. We did not observe any individual protein-altering variants that are reproducibly associated with extremely high intelligence and within the entire distribution of intelligence. Moreover, no significant associations were found for multiple rare alleles within individual genes. However, analyses using genome-wide similarity between unrelated individuals (genome-wide complex trait analysis) indicate that the genotyped functional protein-altering variation yields a heritability estimate of 17.4% (s.e. 1.7%) based on a liability model. In addition, investigation of nominally significant associations revealed fewer rare alleles associated with extremely high intelligence than would be expected under the null hypothesis. This observation is consistent with the hypothesis that rare functional alleles are more frequently detrimental than beneficial to intelligence. PMID:26239293

A genome-wide analysis of putative functional and exonic variation associated with extremely high intelligence.

PubMed

Spain, S L; Pedroso, I; Kadeva, N; Miller, M B; Iacono, W G; McGue, M; Stergiakouli, E; Davey Smith, G; Putallaz, M; Lubinski, D; Meaburn, E L; Plomin, R; Simpson, M A

2016-08-01

Although individual differences in intelligence (general cognitive ability) are highly heritable, molecular genetic analyses to date have had limited success in identifying specific loci responsible for its heritability. This study is the first to investigate exome variation in individuals of extremely high intelligence. Under the quantitative genetic model, sampling from the high extreme of the distribution should provide increased power to detect associations. We therefore performed a case-control association analysis with 1409 individuals drawn from the top 0.0003 (IQ >170) of the population distribution of intelligence and 3253 unselected population-based controls. Our analysis focused on putative functional exonic variants assayed on the Illumina HumanExome BeadChip. We did not observe any individual protein-altering variants that are reproducibly associated with extremely high intelligence and within the entire distribution of intelligence. Moreover, no significant associations were found for multiple rare alleles within individual genes. However, analyses using genome-wide similarity between unrelated individuals (genome-wide complex trait analysis) indicate that the genotyped functional protein-altering variation yields a heritability estimate of 17.4% (s.e. 1.7%) based on a liability model. In addition, investigation of nominally significant associations revealed fewer rare alleles associated with extremely high intelligence than would be expected under the null hypothesis. This observation is consistent with the hypothesis that rare functional alleles are more frequently detrimental than beneficial to intelligence.

Case report: Emergency department diagnosis of melorheostosis in the upper extremity: a rare disease with an unusual presentation.

PubMed

Murano, Tiffany; Egarian, Michele

2012-10-01

Melorheostosis is a rare disease that affects fewer than 1:1,000,000 persons worldwide and most typically affects the lower extremities. It is a non-hereditary disease that may be debilitating due to chronic pain, contractures of the soft tissue, and even shortening of the affected limbs. Although it most commonly occurs in the lower extremities, melorheostosis has been reported in various locations throughout the body. This case report describes a patient who presented to the Emergency Department (ED) with this rare disease in an uncommonly affected bone. The patient was a 21-year-old man who presented to the ED with pain in his left upper extremity that he attributed to playing sports 3 days before presentation. Plain films revealed periosteal hyperostosis typical of melorheostosis in several of his carpals, metacarpals, and phalanges, as well as the humerus and ulna. The patient was discharged with orthopedic follow-up and pain medication. Melorheostosis is a rare disease that has characteristic radiographic findings likened to the appearance of melting wax flowing down the side of a candle. In certain cases, the disease can be debilitating and may require chronic pain management and even operative intervention. If this diagnosis is made in the ED, the emergency physician should provide adequate pain management and refer the patient to an orthopedic specialist for a work-up to rule out other sclerosing bone dysplasias. Copyright © 2012 Elsevier Inc. All rights reserved.

Researchers identify potential therapeutic targets for a rare childhood cancer | Center for Cancer Research

Cancer.gov

CCR researchers have identified the mechanism behind a rare but extremely aggressive childhood cancer called alveolar rhabdomyosarcoma (ARMS) and have pinpointed a potential drug target for its treatment. Learn more...

Report of a Case and Review of Literature of Internal Hernia through Peritoneal Defect in Pouch of Douglas: A Rare Occurrence.

PubMed

Muthukumar, Vamseedharan; Venugopal, Sarveswaran; Subramaniam, Surees Kumar

2017-01-01

Intestinal obstruction attributable to internal hernia as a cause is a rare phenomenon with a reported incidence of 0.6%-5.8%. Internal hernias ensuing as a result of defect in the pouch of Douglas is extremely rare with only six such cases reported so far in the literature. We present a case of 74-year-old posthysterectomy status female who presented with features of intestinal obstruction. Intraoperatively, the site of obstruction was found to be a rent in the peritoneum of the pouch of Douglas through which a loop of ileum was found herniating. The viability of the bowel was confirmed, and the defect was closed. The postoperative course was uneventful. This report presents an extremely rare type of internal hernia caused by defect in the pouch of Douglas and review of the literature so far available.

Spontaneous esophageal-pleural fistula.

PubMed

Vyas, Sameer; Prakash, Mahesh; Kaman, Lileshwar; Bhardwaj, Nidhi; Khandelwal, Niranjan

2011-10-01

Spontaneous esophageal-pleural fistula (EPF) is a rare entity. We describe a case in a middle-aged female who presented with severe retrosternal chest pain and shortness of breadth. Chest computed tomography showed right EPF and hydropneumothorax. She was managed conservatively keeping the chest tube drainage and performing feeding jejunostomy. A brief review of the imaging finding and management of EPF is discussed.

Odontogenic keratocyst: a peripheral variant.

PubMed

Vij, H; Vij, R; Gupta, V; Sengupta, S

2011-01-01

Odontogenic keratocyst, which is developmental in nature, is an intraosseous lesion though on rare occasions it may occur in an extraosseous location. The extraosseous variant is referred to as peripheral odontogenic keratocyst. Though, clinically, peripheral odontogenic keratocyst resembles the gingival cyst of adults, it has histologic features that are pathognomonic of odontogenic keratocyst. This article presents a case of this uncommon entity.

Recurrent abdominal pain in 52-year-old male

PubMed Central

De Palma, Giovanni D; Maione, Francesco; Esposito, Dario; Siciliano, Saverio; Gennarelli, Nicola; Cassese, Gianluca; Forestieri, Pietro

2015-01-01

Key Clinical Message Intussusception of the appendix is a rare condition. Symptoms vary widely, whereas some patients are asymptomatic. Diagnosis is generally challenging and few cases have been diagnosed by colonoscopy. It is important to recognize the endoscopic appearance of this entity in order to avoid the potential hazard of an inadvertent “polypectomy”. PMID:26185658

Focal neuronal gigantism: a rare complication of therapeutic radiation.

PubMed

Gaughen, J R; Bourne, T D; Aregawi, D; Shah, L M; Schiff, D

2009-11-01

Radiation therapy, a mainstay in the treatment of many brain tumors, results in a variety of well-documented acute and chronic complications. Isolated cortical damage following irradiation represents an extremely rare delayed therapeutic complication, described only twice in the medical literature. We report this rare delayed complication in a patient following treatment of a right frontal anaplastic oligodendroglioma.

Janiceps conjoined twins with extreme asymmetry: case report with complete autopsy and histopathologic findings.

PubMed

Kastenbaum, Hannah A; McPherson, Elizabeth W; Murdoch, Geoffrey H; Ozolek, John A

2009-01-01

Conjoined twinning is a rare form of twinning, in which 2 bodies are attached, and is classified according to the anatomic place of attachment. An extremely rare form of conjoined twinning is janiceps conjoined twinning, in which 2 faces are attached but oriented in opposite directions. In this report, we present an unusual and difficult-to-classify case of conjoined male twins with partial duplication of craniofacial, upper oropharyngeal, and cardiac organs. We believe this to be one of the few reported cases of janiceps asymmetrus. We describe in detail the gross and microscopic pathology and offer some insights into the possible embryogenesis and distinction from the other rare form of conjoined twinning with facial duplication, diprosopus.

Close Air Support Allocation for Extended Counterinsurgency: Is Our Doctrine Lacking

DTIC Science & Technology

2010-04-01

timely and accurate deconfliction of those aircraft. They act as the primary command and control for all aircraft in the theater and are extremely...only merge the real time CAS control fuctions into a single entity. It is not to eliminate the capacity of the ASOC to participate in land

Linking species richness, biodiversity and ecosystem function in soil system

Treesearch

David C. Coleman; William B. Whitman

2004-01-01

Soils are the central organizing entities in terrestrial ecosystem and possess extremely diverse prokaryotic and eukaryotic biota. They are physically and chemically complex, with micro- and macro-aggregates embedded within a solid, liquid and gaseous matrix that is continually changing in response to natural and human-induced perturbations. Recent advances in...

Subependymomas - Characteristics of a "Leave me Alone" Lesion.

PubMed

Kammerer, Sara; Mueller-Eschner, Monika; Lauer, Arne; Luger, Anna-Luisa; Quick-Weller, Johanna; Franz, Kea; Harter, Patrick; Berkefeld, Joachim; Wagner, Marlies

2018-06-18

 Intracranial subependymomas are rare, mostly asymptomatic tumours, which are often found incidentally and therefore did not receive much attention in previous literature. By being classified as benign grade I in the WHO classification of tumours of the central nervous system, they are given a special status compared to the other ependymal tumours. Tumor recurrences are a rarity, spinal "drop metastases" do not occur. While etiological, pathological and therapeutic characteristics have been subject of several publications over the last few decades and have meanwhile been well studied, the imaging characteristics are much less well received.  Retrospective analysis of our relatively large group of 33 patients with subependymoma, including 4 patients with a mixture of subependymomas with ependymal cell fractions in terms of imaging and clinical aspects and with reference to a current literature review.  Subependymomas have typical image morphologic characteristics that differentiate them from tumors of other entities, however, the rare subgroup of histopathological mixtures of subependymomas with ependymal cell fractions has no distinctly different imaging properties.  Knowing the imaging characteristics of subpendymoma and their differential diagnoses is of particular importance in order to be able to decide between the necessity of follow-up controls, an early invasive diagnosis or, depending on the entity, tumor resection.   · Subependymomas have typical imaging characteristics that are clearly distinguishable from other entities.. · Increased incidence in middle/ older aged men, most frequent localization: 4th ventricle.. · Symptomatic subependymomas, often located in lateral ventricles, are usually characterized by hydrocephalus.. · Radiological identification of mixed subependymoma with ependymal cell fractions is not possible.. · Image based differentiation from other entities is important for the procedure.. · Kammerer S, Mueller-Eschner M, Lauer A et al. Subependymomas - Characteristics of a "Leave me Alone" Lesion. Fortschr Röntgenstr 2018; DOI: 10.1055/a-0576-1028. © Georg Thieme Verlag KG Stuttgart · New York.

[Angiolymphoid hyperplasia with eosinophilia with bilateral involvement of the lacrimal glands].

PubMed

Baráková, Drahomíra; Sâch, Josef; Kuchynka, Pavel; Rêdinová, Magdalena; Kocur, Ivo

2002-05-01

Angiolymphoid hyperplasia with eosinophilia (ALHE) and Kimura's disease are two rarely occurring disorders very similar to each other; however, they are individual nosological entities. For a long time they were considered as a single disease due to the frequency of similar characteristics. The majority of authors have recently considered these diseases as two individual entities with some reciprocal specifications, both clinical as well as morphological. We report on the case of a 76-year old male white European who had suffered for more than six years from subcutaneous tumour formations in different parts of the body. Eyelid oedema on the right side with palpable resistance under the upper temporal edge of the orbit initially occurred five years after the first symptoms of the disease. A similar finding occurred on the left side after eight months. The tumours on both sides were surgically removed and sent for histological analysis. A unilateral recurrence of the finding appeared after one year, followed by surgical intervention and histological examination. Tumour infiltrate in the first two orbita excisions was topically related to lacrimal gland structures; these structures were not found in the third excision. The case was histologically diagnosed as ALHE despite some similar characteristics with Kimura's disease. The diagnosis of ALHE was histologically supported, especially by the absence of lymphatic follicle formations and fibrotisation in the infiltrate, and the identification of the appearance of epitheloid up to histiocytoid of proliferating endothelium, which forms small lumens. The diagnosis of ALHE was additionally supported by the fact that the incidence of Kimura's disease in white Europeans is very rare. According to our findings, both entities overlap one another, even in some characteristics considered to be distinguishing. The question arises, therefore, whether the strict separation of these nosological entities can indeed be determined with one hundred percent accuracy.

The Abernethy malformation-myriad imaging manifestations of a single entity.

PubMed

Ghuman, Samarjit S; Gupta, Saumya; Buxi, T B S; Rawat, Kishan S; Yadav, Anurag; Mehta, Naimish; Sud, Seema

2016-01-01

Abernethy malformation, also known as congenital extrahepatic portosystemic shunts (CEPS) is a rare clinical entity and manifests with different clinical symptoms. CEPS are abnormalities of vascular development where there is shunting of portal blood into the systemic venous system. Multidetector computed tomography (MDCT) is a fast and effective modality for evaluation of CEPS. CT displays all the information desired by the surgeon as well as the clinician including the anatomy of the splenic and superior mesenteric veins, size and site of the shunt, presence or absence of the portal vein radicles, and helps to plan the therapy and even the follow-up of these patients. Contrast-enhanced magnetic resonance imaging (MRI) has also emerged as a promising tool for the evaluation of liver lesions associated with the malformation. The Radiologist should be aware of the various imaging appearances of this entity including its complications. In this article, we describe the imaging appearances of CEPS, their complications, and their imaging appearances on CT and MRI. We have also described various associated anomalies.

The Abernethy malformation—myriad imaging manifestations of a single entity

PubMed Central

Ghuman, Samarjit S; Gupta, Saumya; Buxi, T B S; Rawat, Kishan S; Yadav, Anurag; Mehta, Naimish; Sud, Seema

2016-01-01

Abernethy malformation, also known as congenital extrahepatic portosystemic shunts (CEPS) is a rare clinical entity and manifests with different clinical symptoms. CEPS are abnormalities of vascular development where there is shunting of portal blood into the systemic venous system. Multidetector computed tomography (MDCT) is a fast and effective modality for evaluation of CEPS. CT displays all the information desired by the surgeon as well as the clinician including the anatomy of the splenic and superior mesenteric veins, size and site of the shunt, presence or absence of the portal vein radicles, and helps to plan the therapy and even the follow-up of these patients. Contrast-enhanced magnetic resonance imaging (MRI) has also emerged as a promising tool for the evaluation of liver lesions associated with the malformation. The Radiologist should be aware of the various imaging appearances of this entity including its complications. In this article, we describe the imaging appearances of CEPS, their complications, and their imaging appearances on CT and MRI. We have also described various associated anomalies. PMID:27857464

The discovery of medicines for rare diseases

PubMed Central

Swinney, David C; Xia, Shuangluo

2015-01-01

There is a pressing need for new medicines (new molecular entities; NMEs) for rare diseases as few of the 6800 rare diseases (according to the NIH) have approved treatments. Drug discovery strategies for the 102 orphan NMEs approved by the US FDA between 1999 and 2012 were analyzed to learn from past success: 46 NMEs were first in class; 51 were followers; and five were imaging agents. First-in-class medicines were discovered with phenotypic assays (15), target-based approaches (12) and biologic strategies (18). Identification of genetic causes in areas with more basic and translational research such as cancer and in-born errors in metabolism contributed to success regardless of discovery strategy. In conclusion, greater knowledge increases the chance of success and empirical solutions can be effective when knowledge is incomplete. PMID:25068983

Biomedical hypothesis generation by text mining and gene prioritization.

PubMed

Petric, Ingrid; Ligeti, Balazs; Gyorffy, Balazs; Pongor, Sandor

2014-01-01

Text mining methods can facilitate the generation of biomedical hypotheses by suggesting novel associations between diseases and genes. Previously, we developed a rare-term model called RaJoLink (Petric et al, J. Biomed. Inform. 42(2): 219-227, 2009) in which hypotheses are formulated on the basis of terms rarely associated with a target domain. Since many current medical hypotheses are formulated in terms of molecular entities and molecular mechanisms, here we extend the methodology to proteins and genes, using a standardized vocabulary as well as a gene/protein network model. The proposed enhanced RaJoLink rare-term model combines text mining and gene prioritization approaches. Its utility is illustrated by finding known as well as potential gene-disease associations in ovarian cancer using MEDLINE abstracts and the STRING database.

Canine gastritis.

PubMed

Webb, Craig; Twedt, David C

2003-09-01

Gastritis--inflammation of the stomach--is a frequently cited differential yet rarely characterized diagnosis in cases of canine anorexia and vomiting. Although the list of rule-outs for acute or chronic gastritis is extensive, a review of the veterinary literature reveals fewer than 15 articles that have focused on clinical cases of canine gastritis over the last 25 years. The dog frequently appears in the human literature as an experimentally manipulated model for the study of endoscopic techniques or the effect of medications on gastric mucosa. In the veterinary patient, cases of acute gastritis are rarely pursued with the complete diagnostic armamentarium, and cases of chronic gastritis are rarely found to occur as an entity isolated from the rest of the gastrointestinal tract. This article focuses on those findings most clinically relevant to cases of canine gastritis in veterinary medicine.

A Rare Case Report of Immobility-Induced Hypercalcemia in an Infant.

PubMed

Vyas, Neha; Kaminski, Beth; MacLeish, Sarah

2016-04-01

Immobility-induced hypercalcemia is a rare cause of hypercalcemia in children, and to our knowledge it has never been reported in an infant. Infants and children are in a state of high bone turnover. Therefore, they are prone to the imbalance of osteoblastic and osteoclastic activity that occurs with prolonged immobilization, leading to hypercalcemia. Here we present the case of an infant with hypercalcemia who presented with fatigue, irritability, and failure to thrive after prolonged immobilization. Therapeutic interventions were conservative and included hydration and increased mobility leading to complete resolution. This case highlights the importance of including this rare entity in a differential diagnosis of hypercalcemia as well as screening postsurgical patients with prolonged immobility for hypercalcemia. Copyright © 2016 by the American Academy of Pediatrics.

When Siberia came to the Netherlands: The response of continental black-tailed godwits to a rare spring weather event

USGS Publications Warehouse

Senner, Nathan R.; Verhoeven, Mo A.; Abad-Gómez, José M.; Gutiérrez, Jorge S.; Hooijmeijer, Jos C. E. W.; Kentie, Rosemarie; Masero, José A.; Tibbitts, T. Lee; Piersma, Theunis

2015-01-01

This suggests that populations with continued access to food, behavioural flexibility and time to dissipate the costs of the event can likely withstand the consequences of an extreme weather event. For populations constrained in one of these respects, though, extreme events may entail extreme ecological consequences.

Bilateral macrodystrophia lipomatosa of the upper extremities with syndactyly and multiple lipomas.

PubMed

van der Meer, Saskia; Nicolai, Jean-Philippe A; Schut, Simone M; Meek, Marcel F

2011-12-01

Macrodystrophia lipomatosa is a rare disease that causes congenital local gigantism of part of an extremity, which is characterised by an increase in all mesenchymal elements, particularly fibroadipose tissue. This is the first report to our knowledge of a case of histologically confirmed bilateral macrodystrophia lipomatosa of the upper extremities with syndactyly and multiple lipomas.

Stress fracture of ulna due to excessive push-ups.

PubMed

Meena, Sanjay; Rastogi, Devarshi; Solanki, Bipin; Chowdhury, Buddhadev

2014-01-01

Stress fractures are most common in the weight-bearing bones of the lower extremities and spine, but are rarely found in non-weight-bearing bones of the body. Stress fracture of the ulna is extremely rare. We report a case of complete stress fracture of ulna caused due to excessive push ups in a young athlete. Conservative management was successful in healing of fracture and returning this patient back to his previous activity level. Physician should have high index of suspicion, whenever they encounter a young athlete complaining of forearm pain.

Sweet Syndrome: A Review and Update.

PubMed

Villarreal-Villarreal, C D; Ocampo-Candiani, J; Villarreal-Martínez, A

2016-06-01

Sweet syndrome is the most representative entity of febrile neutrophilic dermatoses. It typically presents in patients with pirexya, neutrophilia, painful tender erytomatous papules, nodules and plaques often distributed asymmetrically. Frequent sites include the face, neck and upper extremities. Affected sites show a characteristical neutrophilic infiltrate in the upper dermis. Its etiology remains elucidated, but it seems that can be mediated by a hypersensitivity reaction in which cytokines, followed by infiltration of neutrophils, may be involved. Systemic corticosteroids are the first-line of treatment in most cases. We present a concise review of the pathogenesis, classification, diagnosis and treatment update of this entity. Copyright © 2015 AEDV. Published by Elsevier España, S.L.U. All rights reserved.

A rare case of primary bone lymphoma mimicking a pelvic abscess

PubMed Central

Al Wattar, BH; Mohanty, K

2011-01-01

Primary bone lymphoma (PBL) is a rare, malignant, neoplastic disorder of the skeleton that accounts for less than 5% of all primary bone tumours. We present an extremely rare case of PBL mimicking a pelvic abscess around the sacroiliac joint, which has never been reported in the medical literature, and discuss learning points highlighted from this case. PMID:22004625

Simultaneous or Early Sequential Rupture of Multiple Intracranial Aneurysms: A Rare and Insufficiently Understood Entity.

PubMed

Hou, Kun; Zhao, Jinchuan; Zhang, Yang; Zhu, Xiaobo; Zhao, Yan; Li, Guichen

2016-05-01

Simultaneous or early sequential rupture of multiple intracranial aneurysms (MIAs) is encountered rarely, with no more than 10 cases having been reported. As a result of its rarity, there are a lot of questions concerning this entity need to be answered. A 67-year-old woman was admitted to the First Hospital of Jilin University (Eastern Division) from a local hospital after a sudden onset of severe headache, nausea, and vomiting. Head computed tomography (CT) at the local hospital revealed diffuse subarachnoid hemorrhage (SAH) that was concentrated predominately in the suprasellar cistern and interhemispheric fissure. During her transfer to our hospital, she experienced another episode of sudden headache. CT on admission to our hospital revealed that the SAH was increased with 2 isolated hematomas both in the interhemispheric fissure and the left paramedian frontal lobe. Further CT angiography and intraoperative findings were in favor of early sequential rupture of 2 intracranial aneurysms. To further elucidate the characteristics, mechanism, management, and prognosis of this specific entity, we conducted a comprehensive review of the literature. The mechanism of simultaneous or early sequential rupture of MIAs is still obscure. Transient elevation of blood pressure might play a role in the process, and preventing the sudden elevation of blood pressure might be beneficial for patients with aneurysmal SAH and MIAs. The management of simultaneously or early sequentially ruptured aneurysms is more complex for its difficulty in responsible aneurysm determination, urgency in treatment, toughness in intraoperative manipulation and poorness in prognosis. Copyright © 2016 Elsevier Inc. All rights reserved.

Isolated nonpulsatile enophthalmos in neurofibromatosis: An uncommon entity

PubMed Central

Singh, Swati; Mulay, Kaustubh; Mittal, Vikas

2017-01-01

Isolated enophthalmos is a rarely observed entity in neurofibromatosis (NF). A 12-year-old male presented with right lower eyelid fat prolapse and enophthalmos for the past 7 years. There was no history of antecedent trauma/surgery. Computed tomography of orbit revealed an ill-defined intraconal hyperdense lesion located between lateral and inferior rectus along with an enlarged inferior orbital fissure (IOF). Superior orbital fissure was minimally widened without prolapse of any intracranial contents. Excision biopsy along with repair of widened IOF was performed through inferior transconjunctival route. Histopathology was suggestive of plexiform neurofibroma with positivity for S-100 and epithelial membrane antigen. No associated cutaneous lesions were present. Nonpulsatile enophthalmos with eyelid fat prolapse can be a presenting sign of NF. PMID:29044092

Van Wyk Grumbach Syndrome: A Rare Consequence of Hypothyroidism.

PubMed

Reddy, Pavan; Tiwari, Kritika; Kulkarni, Abhishek; Parikh, Ketan; Khubchandani, Raju

2018-05-19

Long standing hypothyroidism presenting as an ovarian mass has been well described in literature as the Van Wyk Grumbach syndrome (hypothyroidism, isosexual precocious puberty and ovarian mass). Here, authors report this entity in a 11 y 7 mo old girl child who was referred to a surgeon in view of intestinal obstruction along with a multiloculated ovarian cyst. On evaluation, she was found to have raised serum creatinine, short stature, delayed bone age and pituitary enlargement. She was diagnosed with autoimmune thyroiditis and was started on replacement therapy with thyroxine, after which the ovarian cysts regressed. This entity should be kept in mind in cases of ovarian cysts, especially those with isosexual precocity, to prevent unnecessary evaluation and surgical misadventures.

Isolated nonpulsatile enophthalmos in neurofibromatosis: An uncommon entity.

PubMed

Singh, Swati; Mulay, Kaustubh; Mittal, Vikas

2017-10-01

Isolated enophthalmos is a rarely observed entity in neurofibromatosis (NF). A 12-year-old male presented with right lower eyelid fat prolapse and enophthalmos for the past 7 years. There was no history of antecedent trauma/surgery. Computed tomography of orbit revealed an ill-defined intraconal hyperdense lesion located between lateral and inferior rectus along with an enlarged inferior orbital fissure (IOF). Superior orbital fissure was minimally widened without prolapse of any intracranial contents. Excision biopsy along with repair of widened IOF was performed through inferior transconjunctival route. Histopathology was suggestive of plexiform neurofibroma with positivity for S-100 and epithelial membrane antigen. No associated cutaneous lesions were present. Nonpulsatile enophthalmos with eyelid fat prolapse can be a presenting sign of NF.

Simulation of the 23 July 2012 Extreme Space Weather Event: What if This Extremely Rare CME Was Earth Directed?

NASA Technical Reports Server (NTRS)

Ngwira, Chigomezyo M.; Pulkkinen, Antti; Mays, M. Leila; Kuznetsova, Maria M.; Galvin, A. B.; Simunac, Kristin; Baker, Daniel N.; Li, Xinlin; Zheng, Yihua; Glocer, Alex

2013-01-01

Extreme space weather events are known to cause adverse impacts on critical modern day technological infrastructure such as high-voltage electric power transmission grids. On 23 July 2012, NASA's Solar Terrestrial Relations Observatory-Ahead (STEREO-A) spacecraft observed in situ an extremely fast coronal mass ejection (CME) that traveled 0.96 astronomical units (approx. 1 AU) in about 19 h. Here we use the SpaceWeather Modeling Framework (SWMF) to perform a simulation of this rare CME.We consider STEREO-A in situ observations to represent the upstream L1 solar wind boundary conditions. The goal of this study is to examine what would have happened if this Rare-type CME was Earth-bound. Global SWMF-generated ground geomagnetic field perturbations are used to compute the simulated induced geoelectric field at specific ground-based active INTERMAGNET magnetometer sites. Simulation results show that while modeled global SYM-H index, a high-resolution equivalent of the Dst index, was comparable to previously observed severe geomagnetic storms such as the Halloween 2003 storm, the 23 July CME would have produced some of the largest geomagnetically induced electric fields, making it very geoeffective. These results have important practical applications for risk management of electrical power grids.

[Isolated splenic metastases from cervical cancer: a rare entity].

PubMed

Villalón-López, José Sebastián; Souto-del Bosque, Rosalía; Montañez-Lugo, Juan Ignacio; Chávez-González, Bruno

2014-01-01

Splenic metastases from solid tumors are a rare event with an incidence of only 2.9% to 9%. Splenic metastases from cervical cancer are a rare entity. Only a few cases have been reported of isolated spleen metastases from cervical cancer. We present the case of a 76-year-old woman with moderately differentiated endocervical adenocarcinoma stromal and endocervical invasion. Clinical stage was Ib1 and Ca-125 values of 150 U. She was managed with hysterectomy and pelvic lymphadenectomy. She received pelvic radiotherapy (45 Gy) followed 24 Gy of brachytherapy. Two years later she presented with abdominal pain. Abdominal computed tomography showed two splenic parenchymal lesions without disease in the remainder of the abdominal cavity and chest with a Ca-125 of 2,733 U. The patient is submitted to splenectomy. Histopathology demonstrates splenic metastases of well-differentiated adenocarcinoma from the endocervix. Immunohistochemical stain showed positivity from carcinoembryonic antigen; estrogen and progesterone receptors are negative. Ca-125 level 8 weeks after surgery was 16 U/ml. The patient received six cycles of adjuvant chemotherapy with paclitaxel and cisplatin. At 12 months follow-up the patient is alive and without evidence of tumor activity. The spleen is an uncommon site of metastasis. Splenectomy is considered the appropriate treatment in order to avoid complications such as splenic rupture and splenic vein thrombosis as well as to improve pain control from splenomegaly. Twelve months after surgery our patient is alive and without evidence of tumor activity.

Subacute Sclerosing Panencephalitis of the Brainstem as a Clinical Entity

PubMed Central

Yang, Jason; Ciacci, Joseph D.

2017-01-01

Subacute sclerosing panencephalitis (SSPE) is a rare progressive neurological disorder of early adolescence caused by persistent infection of the measles virus, which remains prevalent worldwide despite an effective vaccine. SSPE is a devastating disease with a characteristic clinical course in subcortical white matter; however, atypical presentations of brainstem involvement may be seen in rare cases. This review summarizes reports to date on brainstem involvement in SSPE, including the clinical course of disease, neuroimaging presentations, and guidelines for treatment. A comprehensive literature search was performed for English-language publications with keywords “subacute sclerosing panencephalitis” and “brainstem” using the National Library of Medicine PubMed database (March 1981–September 2017). Eleven articles focusing on SSPE of the brainstem were included. Predominant brainstem involvement remains uncharacteristic of SSPE, which may lead to misdiagnosis and poor outcome. A number of case reports have demonstrated brainstem involvement associated with other intracranial lesions commonly presenting in later SSPE stages (III and IV). However, brainstem lesions can appear in all stages, independent of higher cortical structures. The varied clinical presentations complicate diagnosis from a neuroimaging perspective. SSPE of the brainstem is a rare but important clinical entity. It may present like canonical SSPE or with unique clinical features such as absence seizures and pronounced ataxia. While SSPE generally progresses to the brainstem, it can also begin with a primary focus of infection in the brainstem. Awareness of varied SSPE presentations can aid in early diagnosis as well as guide management and treatment. PMID:29112137

Subacute Sclerosing Panencephalitis of the Brainstem as a Clinical Entity.

PubMed

Upadhyayula, Pavan S; Yang, Jason; Yue, John K; Ciacci, Joseph D

2017-11-07

Subacute sclerosing panencephalitis (SSPE) is a rare progressive neurological disorder of early adolescence caused by persistent infection of the measles virus, which remains prevalent worldwide despite an effective vaccine. SSPE is a devastating disease with a characteristic clinical course in subcortical white matter; however, atypical presentations of brainstem involvement may be seen in rare cases. This review summarizes reports to date on brainstem involvement in SSPE, including the clinical course of disease, neuroimaging presentations, and guidelines for treatment. A comprehensive literature search was performed for English-language publications with keywords "subacute sclerosing panencephalitis" and "brainstem" using the National Library of Medicine PubMed database (March 1981-September 2017). Eleven articles focusing on SSPE of the brainstem were included. Predominant brainstem involvement remains uncharacteristic of SSPE, which may lead to misdiagnosis and poor outcome. A number of case reports have demonstrated brainstem involvement associated with other intracranial lesions commonly presenting in later SSPE stages (III and IV). However, brainstem lesions can appear in all stages, independent of higher cortical structures. The varied clinical presentations complicate diagnosis from a neuroimaging perspective. SSPE of the brainstem is a rare but important clinical entity. It may present like canonical SSPE or with unique clinical features such as absence seizures and pronounced ataxia. While SSPE generally progresses to the brainstem, it can also begin with a primary focus of infection in the brainstem. Awareness of varied SSPE presentations can aid in early diagnosis as well as guide management and treatment.

Extreme Quantum Memory Advantage for Rare-Event Sampling

NASA Astrophysics Data System (ADS)

Aghamohammadi, Cina; Loomis, Samuel P.; Mahoney, John R.; Crutchfield, James P.

2018-02-01

We introduce a quantum algorithm for memory-efficient biased sampling of rare events generated by classical memoryful stochastic processes. Two efficiency metrics are used to compare quantum and classical resources for rare-event sampling. For a fixed stochastic process, the first is the classical-to-quantum ratio of required memory. We show for two example processes that there exists an infinite number of rare-event classes for which the memory ratio for sampling is larger than r , for any large real number r . Then, for a sequence of processes each labeled by an integer size N , we compare how the classical and quantum required memories scale with N . In this setting, since both memories can diverge as N →∞ , the efficiency metric tracks how fast they diverge. An extreme quantum memory advantage exists when the classical memory diverges in the limit N →∞ , but the quantum memory has a finite bound. We then show that finite-state Markov processes and spin chains exhibit memory advantage for sampling of almost all of their rare-event classes.

Poor outcome of bilateral lower extremity morel-lavallee lesions: a case report.

PubMed

Stanley, Sharon S; Molmenti, Ernesto P; Siskind, Eric; Kasabian, Armen K; Huang, Su-I D

2014-03-01

The Morel-Lavallee lesion is a closed, internal degloving injury that results when a strong, shearing force is applied parallel to the plane of injury, as is common in vehicular trauma. It is an underdiagnosed entity that is often missed during the initial trauma workup as symptoms can be subtle. There are few reports of lesions occurring below the knee. Most cases affect the proximal thigh and trochanter, as these tend to be dependent areas in high velocity trauma. To the best of our knowledge, this is the first literature report of bilateral lower extremity Morel-Lavallee lesions.

Spontaneous esophageal-pleural fistula

PubMed Central

Vyas, Sameer; Prakash, Mahesh; Kaman, Lileshwar; Bhardwaj, Nidhi; Khandelwal, Niranjan

2011-01-01

Spontaneous esophageal-pleural fistula (EPF) is a rare entity. We describe a case in a middle-aged female who presented with severe retrosternal chest pain and shortness of breadth. Chest computed tomography showed right EPF and hydropneumothorax. She was managed conservatively keeping the chest tube drainage and performing feeding jejunostomy. A brief review of the imaging finding and management of EPF is discussed. PMID:22084548

Coloseminal fistula complicating sigmoid diverticulitis.

PubMed

Barret, Maximilien; Cuenod, Charles-André; Jian, Raymond; Cellier, Christophe; Berger, Anne

2014-01-01

We report on a 32-year-old man with a history of chronic lower abdominal pain and urogenital symptoms, leading to the diagnosis of coloseminal fistula complicating diverticular disease. We reviewed the literature on this rare clinical entity and would like to stress the role of pelvic imaging with rectal contrast to investigate complicated forms of diverticular disease. 2014 S. Karger AG, Basel.

Tuberculous pseudotumor of the liver

DOE Office of Scientific and Technical Information (OSTI.GOV)

Dhekne, R.D.; Moore, W.H.; Long, S.E.

1987-10-01

Tuberculosis of the liver in association with generalized miliary tuberculosis is not an uncommon clinical entity. A solitary tuberculous liver abscess, however, is rare. Two such cases, in which there was no clinical evidence of extrahepatic tuberculosis, are reported. The similarities between this condition and other causes of hepatic lesions are discussed, with particular emphasis placed on the imaging patterns of various diagnostic imaging procedures.

[Aggressive fibromatosis of the nasal sinuses].

PubMed

Artazkoz del Toro, J J; Pons Rocher, F; Dalmau Galofré, J; Mompó Romero, L; Guallart Domènech, F; Serrano Badía, E

1994-01-01

A case report of a feminine patient who complained of nasal ventilatory obstruction and nasosinusal polyposis is presented. She underwent surgery and the pathological study revealed the existence of an aggressive fibromatosis. The AA. review the literature dealing with this illness and explain an update state of the clinical features, treatment and the course of this rare entity, closely related to fibrosarcoma.

Osteochondrosis of the inferior pole of the scapula (Roca disease).

PubMed

Skaf, Abdalla; Taneja, Atul K

2014-03-01

We report a rare case of osteochondrosis of the inferior pole of the scapula in a 14-year-old boy, an amateur swimmer, that was diagnosed by a combination of clinical and imaging findings. Also known as Roca disease, this is the first article to report this entity in the English literature and demonstrates its computerized tomography and MRI features.

Munchausen syndrome: Playing sick or sick player

PubMed Central

Prakash, Jyoti; Das, R. C.; Srivastava, K.; Patra, P.; Khan, S. A.; Shashikumar, R.

2014-01-01

Munchausen syndrome is rare factitious disorder which entails frequent hospitalization, pathological lying and intentional production of symptoms for sick role. Management requires collateral history taking, sound clinical approach, exclusion of organicity and addressing psychological issues. A case which presented with unusual symptoms of similar dimension is discussed here. The case brings out finer nuances in evaluation and management of this entity. PMID:25535450

Cheek-biting disorder: another stereotypic movement disorder?

PubMed

Sarkhel, Sujit; Praharaj, Samir Kumar; Akhtar, Sayeed

2011-12-01

Recurrent cheek biting, a form of self-injurious behavior is a rare entity which presents mostly to dentists and dermatologists. We report a case of recurrent severe cheek biting in an adult male leading to mucosal ulceration. The stereotypic pattern of cheek biting and associated behavior bears striking resemblance to other impulse control disorders. Copyright © 2011 Elsevier Ltd. All rights reserved.

Spatially explicit power analysis for occupancy-based monitoring of wolverine populations in the U.S

Treesearch

Martha M. Ellis; Jacob S. Ivan; Michael K. Schwartz

2014-01-01

Conservation scientists and resource managers often have to design monitoring programs for species that are rare or patchily distributed across large landscapes. Such programs are frequently expensive and seldom can be conducted by one entity. It is essential that a prospective power analysis be undertaken to ensure stated monitoring goals are feasible. We developed a...

[Bilateral ovarian Burkitt's lymphoma. A case presentation].

PubMed

Briseño-Hernández, Andrés Alejandro; Quezada-López, Deissy Roxana; Castañeda-Chávez, Agar; Dassaejv Macías-Amezcua, Michel; Pintor-Belmontes, Julio Cesar

2014-01-01

Burkitt lymphoma, is described as an aggressive form of non-Hodgkin lymphoma of B cells which occurs most often in children and young adults, ovarian lymphoma can appear as a primary lesion or more commonly referred to as a metastasis. Primary ovarian lesions are rare manifestations corresponding to 0.5% of non-Hodgkin lymphoma and 1.5% of ovarian tumors. Clinic case: 31 years old female with general weakness, march incapacity, dyspnea, hyporexia, fever, diaphoresis, weight loss of 20 kg, flat abs with abdominal pain; Ca125 610 U/ml. Abdominal computed tomography shows a solid aspect tumor which affects the right pelvic cavity. Bilateral ovarian tumors were removed. Microscopically, both lesions show a "starry sky" pattern composed by a monotonous infiltration of lymphocytes mixed with large and clear macrophages, several atypical mitoses, and necrosis and hemorrhage areas. Immunohistochemistry was positive for CD10, CD20, and negative for CD3 and high Ki67 proliferation index. Bilateral ovarian Burkitt's lymphoma was diagnosed. Bilateral ovarian Burkitt's lymphoma is a rare entity, with a variability of presentations, the abdominal pain and abdominal tumors are the most frequent. The patient's prognosis at short term is poor, therefore it's necessary to know this entity and make an early diagnosis.

Pulmonary venous thrombosis secondary to radiofrequency ablation of the pulmonary veins.

PubMed

López-Reyes, Raquel; García-Ortega, Alberto; Torrents, Ana; Feced, Laura; Calvillo, Pilar; Libreros-Niño, Eugenia Alejandra; Escrivá-Peiró, Juan; Nauffal, Dolores

2018-01-01

Pulmonary Vein Thrombosis (PVT) is a rare and underdiagnosed entity produced by local mechanical nature mechanisms, vascular torsion or direct injury to the vein. PVT has been described in clinical cases or small multicenter series mainly in relation to pulmonary vein stenosis, metastatic carcinoma, fibrosing mediastinitis, as an early surgical complication of lung transplantation lobectomy and radiofrequency ablation performed in patients with atrial fibrillation, although in some cases the cause is not known. We report the case of a 57 years old male with history of atrial fibrillation treated by radiofrequency ablation who was admitted in our center because of a two-week history of consistent pleuritic pain in the left hemithorax and low-grade hemoptysis and a lung consolidation treated as a pneumonia with antibiotic but not responding to medical therapy. In view of the poor evolution of the patient, computed tomography angiography was performed with findings of PVT and secondary venous infarction and anticoagulation therapy was optimized. At the end, pulmonary resection was performed due to hemorrhagic recurrence. PVT remains a rare complication of radiofrequency ablation and other procedures involving pulmonary veins. Clinical suspicion and early diagnosis is crucial because is a potentially life-threatening entity.

Management of patients with rectus sheath hematoma: Personal experience.

PubMed

Buffone, Antonino; Basile, Guido; Costanzo, Mario; Veroux, Massimiliano; Terranova, Lorenza; Basile, Antonio; Okatyeva, Valeriya; Cannizzaro, Maria Teresa

2015-07-01

Rectus sheath hematoma (RSH) is a rare clinical entity. It can be mistaken for other intra-abdominal disorders, which can result in diagnostic and therapeutic difficulties. This study was undertaken to analyze the clinical presentation, diagnostic modalities, and management of patients affected with RSH. Between January 2008 and June 2011, eight patients (5 men and 3 women with a mean age of 53 years) with RSH were evaluated according to demographic characteristics, clinical and radiological findings, and methods of treatment. Six patients developed RSH after anticoagulant therapy; one after local trauma, and one after laparoscopic intervention. Six patients were treated nonsurgically; one patient underwent embolization of the inferior epigastric artery and one underwent ligation of the bleeding vessel. The average hospital stay was 6 days. There were no mortality or thromboembolic complications. RSH is a rare nonneoplastic entity that is usually associated with abdominal trauma and/or anticoagulant therapy. The gold standard for diagnosis is computed tomography, and ultrasonography can be used in follow-up. The treatment of choice is nonsurgical therapy because RSH is a self-limited condition. Surgical intervention should be reserved for cases with hemodynamic instability. Copyright © 2013. Published by Elsevier B.V.

Lingual Thyroid Carcinoma: A Case Report and Review of Surgical Approaches in the Literature.

PubMed

Stokes, William; Interval, Eric; Patel, Rusha

2018-07-01

Lingual thyroid cancer is a rare entity with a paucity of literature guiding methods of surgical treatment. Its location presents anatomic challenges with access and excision. We present a case of T4aN1b classical variant papillary thyroid carcinoma of the lingual thyroid that was removed without pharyngeal entry. We also present a review of the literature of this rare entity and propose a treatment algorithm to provide safe and oncologic outcomes. Our review of the literature found 28 case reports of lingual thyroid carcinoma that met search criteria. The trans-cervical/trans-hyoid approach was the most frequently used and provides safe oncologic outcomes. This was followed by the transoral approach and then lateral pharyngotomy. Complications reported across the series include 1 case of pharyngocutaneous fistula associated with mandibulotomy and postoperative respiratory distress requiring reintubation or emergent tracheostomy in 2 patients. The location of lingual thyroid carcinoma can be variable, and surgical management requires knowledge of adjacent involved structures to decrease the risk of dysphagia and airway compromise. In particular, for cases where there is extensive loss to swallowing mechanisms, laryngeal suspension can allow the patient to resume a normal diet after treatment.

Lichen Planus Pigmentosus: The Controversial Consensus

PubMed Central

Ghosh, Aparajita; Coondoo, Arijit

2016-01-01

A pigmented variant of lichen planus (LP) was first reported from India in 1974 by Bhutani et al. who coined the term LP pigmentosus (LPP) to give a descriptive nomenclature to it. LP has a number of variants, one of which is LPP. This disease has also later been reported from the Middle East, Latin America, Korea, and Japan, especially in people with darker skin. It has an insidious onset. Initially, small, black or brown macules appear on sun-exposed areas. They later merge to form large hyperpigmented patches. The disease principally affects the sun-exposed areas of the body such as the face, trunk, and upper extremities. The oral mucosa may rarely be involved. However, the palms, soles, and nails are not affected. Histologically, the epidermis is atrophic along with vacuolar degeneration of basal cell layer. The dermis exhibits incontinence of pigment with scattered melanophages and a sparse follicular or perivascular infiltrate. There is a considerable similarity in histopathological findings between LPP and erythema dyschromicum perstans. However, there are immunologic and clinical differences between the two. These observations have led to a controversy regarding the identity of the two entities. While some dermatologists consider them to be the same, others have opined that the two should be considered as distinctly different diseases. A number of associations such as hepatitis C virus infection, frontal fibrosing alopecia, acrokeratosis of Bazex and nephrotic syndrome have been reported with LPP. A rare variant, LPP inversus, with similar clinical and histopathological findings was reported in 2001. As opposed to LPP, this variant occurs in covered intertriginous locations such as groins and axillae and mostly affects white-skinned persons. PMID:27688435

A Rare Case of Adrenal Pheochromocytoma with Unusual Clinical and Biochemical Presentation: 
A Case Report and Literature Review

PubMed Central

Mula-Abed, Waad-Allah S.; Ahmed, Riyaz; Ramadhan, Fatima A.; Al-Kindi, Manal K.; Al-Busaidi, Noor B.; Al-Muslahi, Hilal N.; Al-Lamki, Mohammad A.

2015-01-01

A 50-year-old Omani woman presented to the Outpatient Clinic, Royal Hospital, Oman with right upper abdominal pain and backache that had lasted 10 days. She had no palpitation, sweating, or hypertension (blood pressure 122/78mmHg). The patient’s history revealed that she had a similar incidence of abdominal pain two months prior, which was a "dull ache" in nature and somewhat associated with headache. The pain was relieved using a mild analgesic drug. Abdominal ultrasonography showed a right adrenal mass, and both computed tomography and magnetic resonance imaging of the adrenal glands confirmed a right adrenal mass consistent with adrenal pheochromocytoma. However, clinical biochemistry tests revealed normal levels of plasma catecholamines (dopamine, norepinephrine, and epinephrine) and metanephrine, which are unusual findings in adrenal pheochromocytoma. Meanwhile, the patient had markedly raised plasma normetanephrine (10-fold) which, together with the normal metanephrine, constitutes a metabolic profile that is compatible with extra-adrenal pheochromocytoma. The patient also had markedly raised chromogranin A (16-fold), consistent with the presence of a neuroendocrine tumor. Laparoscopic right adrenalectomy was done and the adrenal tumor was excised and retrieved in total. Histopathology and immunohistochemistry confirmed the diagnosis of adrenal pheochromocytoma; the tumor cells being positive for chromogranin, synaptophysin, and S-100 protein. Following surgery, the patient did well and showed full recovery at follow-up after three months. Molecular genetic testing showed no pathogenic mutation in pheochromocytoma genes: MAX, SDHA, SDHAF2, SDHB, SDHC, SDHD, VHL, and PRKAR1A. A review of the literature was conducted to identify the pathophysiology and any previous reports of such case. To our knowledge, this is the first report in Oman of the extremely rare entity of pheochromocytoma with an unusual clinical and biochemical scenario. PMID:26421121

A Rare Case of Adrenal Pheochromocytoma with Unusual Clinical and Biochemical Presentation: 
A Case Report and Literature Review.

PubMed

Mula-Abed, Waad-Allah S; Ahmed, Riyaz; Ramadhan, Fatima A; Al-Kindi, Manal K; Al-Busaidi, Noor B; Al-Muslahi, Hilal N; Al-Lamki, Mohammad A

2015-09-01

A 50-year-old Omani woman presented to the Outpatient Clinic, Royal Hospital, Oman with right upper abdominal pain and backache that had lasted 10 days. She had no palpitation, sweating, or hypertension (blood pressure 122/78mmHg). The patient's history revealed that she had a similar incidence of abdominal pain two months prior, which was a "dull ache" in nature and somewhat associated with headache. The pain was relieved using a mild analgesic drug. Abdominal ultrasonography showed a right adrenal mass, and both computed tomography and magnetic resonance imaging of the adrenal glands confirmed a right adrenal mass consistent with adrenal pheochromocytoma. However, clinical biochemistry tests revealed normal levels of plasma catecholamines (dopamine, norepinephrine, and epinephrine) and metanephrine, which are unusual findings in adrenal pheochromocytoma. Meanwhile, the patient had markedly raised plasma normetanephrine (10-fold) which, together with the normal metanephrine, constitutes a metabolic profile that is compatible with extra-adrenal pheochromocytoma. The patient also had markedly raised chromogranin A (16-fold), consistent with the presence of a neuroendocrine tumor. Laparoscopic right adrenalectomy was done and the adrenal tumor was excised and retrieved in total. Histopathology and immunohistochemistry confirmed the diagnosis of adrenal pheochromocytoma; the tumor cells being positive for chromogranin, synaptophysin, and S-100 protein. Following surgery, the patient did well and showed full recovery at follow-up after three months. Molecular genetic testing showed no pathogenic mutation in pheochromocytoma genes: MAX, SDHA, SDHAF2, SDHB, SDHC, SDHD, VHL, and PRKAR1A. A review of the literature was conducted to identify the pathophysiology and any previous reports of such case. To our knowledge, this is the first report in Oman of the extremely rare entity of pheochromocytoma with an unusual clinical and biochemical scenario.

Giant oral lipoma: a rare entity*

PubMed Central

Ponce, José Burgos; Ferreira, Gustavo Zanna; Santos, Paulo Sérgio da Silva; Lara, Vanessa Soares

2016-01-01

Lipomas are very common benign slow-growing soft tissue neoplasms composed of mature adipose tissue mostly diagnosed in the fifth decade of life. These tumors rarely present in the oral cavity, representing less than approximately 5% of all benign mouth tumors. They are usually less than 2cm in size and etiology remains unclear. We report a young male patient presenting with a giant lipoma in the buccal mucosa. Histopathology revealed a large area of mature fat cells consistent with conventional lipoma and an area of the mucosal lining of the lesion suggestive of morsicatio buccarum. In the present article, we emphasize the clinicopathological features and differential diagnosis of the disease. PMID:28300904

Watery diarrhea, hypokalemia and achlorhydria syndrome due to an adrenal pheochromocytoma

PubMed Central

Ikuta, Shin-ichi; Yasui, Chiaki; Kawanaka, Masahiro; Aihara, Tsukasa; Yoshie, Hidenori; Yanagi, Hidenori; Mitsunobu, Masao; Sugihara, Ayako; Yamanaka, Naoki

2007-01-01

Watery diarrhea, hypokalemia and achlorhydria (WDHA) syndrome caused by vasoactive intestinal polypeptide (VIP) -producing tumor only rarely occurs in patients with nonpancreatic disease. A 49-year-old woman was referred for evaluation of a right adrenal tumor incidentally diagnosed by abdominal ultrasound during the investigation of chronic watery diarrhea. Laboratory findings showed hypokalemia and excessive production of VIP and catecholamines. After surgical resection of the tumor, diarrhea subsided and both electrolytes and affected hormone levels normalized. Immunohistochemical examination confirmed a diagnosis of pheochromocytoma, which contained VIP-positive ganglion-like cells. We herein present the clinical and histogenetic implications of this rare clinical entity, with literature review. PMID:17729424

Concomitant Epstein-Barr Virus-associated smooth muscle tumor and granulomatous inflammation of the liver.

PubMed

Can, Nhu Thuy; Grenert, James P; Vohra, Poonam

2017-10-01

Epstein-Barr Virus-associated smooth muscle tumor (EBV-SMT) is a rare mesenchymal tumor typically seen in immunocompromised patients. Here, we report a case of EBV-SMT and associated granulomatous inflammation in the liver of a 32-year-old man with history of human immunodeficiency virus/acquired immune deficiency syndrome (HIV/AIDS). To our knowledge, an association of these two lesions has not been previously reported. We review the literature and discuss pathogenesis, differential diagnosis and immunohistochemical (IHC) stains helpful for the diagnosis of this rare entity. Finally, we consider possible explanations for the concomitant presence of these lesions. Published by Elsevier GmbH.

Ruptured Intrasellar Superior Hypophyseal Artery Aneurysm Presenting with Pure Subdural Haematoma

PubMed Central

Hornyak, M.; Hillard, V.; Nwagwu, C.; Zablow, B. C.; Murali, R.

2004-01-01

Summary Subdural haemorrhage from a ruptured intracranial aneurysm is a well-known entity when associated with subarachnoid haemorrhage. However, haemorrhage confined only to the subdural space is rare because there are limited anatomical sites where extravasation can be purely subdural. We report the rare case of a patient who suffered pure subdural haematoma after the rupture of a left superior hypophyseal artery aneurysm located within the sella turcica. The patient was treated with endovascular coil embolization of the aneurysm. Angiography immediately after treatment and one month later revealed complete obliteration of the aneurysm. Six months after treatment, the patient remained symptom free. PMID:20587264

Telangiectatic osteosarcoma of the rib: a rare entity and a potential diagnostic pitfall.

PubMed

Saguem, I; Ayadi, L; Kallel, R; Charfi, S; Bahri, I; Gouiaa, N; Sellami-Boudawara, T

2016-12-01

Osteosarcoma (OS) is a common primary malignant tumor of bones that produces osteoid matrix. Telangiectatic osteosarcoma (TOS) is a rare variant of OS. It affects the long bones especially the lower end of femur and the upper ends of tibia and humerus, a distribution similar to the conventional osteosarcoma. The rib involvement is very infrequent. We present a case of TOS of the rib that posed a diagnostic difficulty owing to its unusual location and to its resemblance to giant cell tumor and aneurysmal bone cyst. Correspondence. © Copyright Società Italiana di Anatomia Patologica e Citopatologia Diagnostica, Divisione Italiana della International Academy of Pathology.

Squamous cell carcinoma lung: Presented with bilateral lower limb deep venous thrombosis with gangrene formation

PubMed Central

Saha, Kaushik; Sengupta, Amitabha; Patra, Anupam; Jash, Debraj

2013-01-01

Bilateral venous thrombosis due to underlying malignancy is a rare entity. It is worthy to search for malignancy in patients of bilateral venous gangrene. Our patient presented with severe bilateral leg pain as a result of venous gangrene. There was associated left sided massive pleural effusion with scalp nodule. Fine needle aspiration cytology of scalp nodule revealed metastatic squamous cell carcinoma and fiber optic bronchoscopy guided biopsy from growth at left upper lobe bronchus confirmed the case as squamous cell carcinoma lung. It was rare for squamous cell carcinoma lung to present as bilateral venous gangrene with anticardiolipin antibody negative. PMID:24455526

Pigmented epidermal cyst with dense collection of melanin: A rare entity – Report of a case with review of the literature

PubMed Central

Jayalakshmy, P. S.; Subitha, K.; Priya, P. V.; Johnson, Gerald

2012-01-01

Epidermal cyst is a very common benign cystic lesion of the skin. It is usual to find ulceration of the lining epithelium, rupture of the cyst wall with chronic inflammation and foreign body giant cell reaction. But, it is very rare to see an epidermal cyst with marked accumulation of melanin pigment. Only a few cases of pigmented epidermal cyst with dense collection of melanin pigment have been published in the literature. Here, we are reporting a case of ruptured epidermal cyst with keratin granuloma formation and showing dense collection of melanin pigment. PMID:23130289

Obstructive Hydrocephalus Secondary to Enlarged Virchow-Robin Spaces: A Rare Cause of Pulsatile Tinnitus.

PubMed

Donaldson, Christopher; Chatha, Gurkirat; Chandra, Ronil V; Goldschlager, Tony

2017-05-01

Obstructive hydrocephalus secondary to enlarged Virchow-Robin Spaces (VRS) is a rare entity, with only a few cases reported in the literature. Presenting symptoms vary widely from headaches to dizziness. We report a case of a 31-year-old man who presented with pulsatile tinnitus and magnetic resonance imaging showing obstructive hydrocephalus secondary to tumefactive VRS. After a cerebrospinal fluid diversion procedure in the form of an endoscopic third ventriculostomy, he had almost complete resolution of his symptoms. This is the first case of obstructive hydrocephalus secondary to enlarged VRS, presenting with pulsatile tinnitus. Copyright © 2017 Elsevier Inc. All rights reserved.

A rare case of post-splenectomy gastric volvulus managed by laparoscopic anterior gastropexy

PubMed Central

Gupta, Rahul Amreesh; Das, Rinki; Verma, Ganga Ram

2017-01-01

We report an extremely rare case of recurrent gastric volvulus after open splenectomy for hereditary spherocytosis. The initial episode was managed by endoscopic derotation. Later, for recurrent symptoms, she was successfully managed by laparoscopic anterior gastropexy. PMID:28281486

A rare case of complete second arch branchial fistula in a 7-year-old child.

PubMed

Shankar, Venkateswara Gomathi; Babu, Thirunavukkarasu Arun; Swami, Hartimath Basavanand

2012-07-01

Branchial fistulae are formed due to the abnormal persistence of the embryonic branchial clefts. Complete branchial fistula with internal and external opening is extremely rare. We report a rare case of complete second arch branchial fistulae in a 7-year-old boy, which was confirmed by a fistulogram. The tract was completely excised and the patient was successfully treated.

Overt Skeletal Metastases in a Patient of Occult (Microscopic) Follicular Thyroid Carcinoma: a Rare Case.

PubMed

Jha, Chandan Kumar; Agrawal, Vinita; Mishra, Anjali; Pradhan, P K

2018-03-01

Occult follicular thyroid carcinoma (FTC) presenting as distant metastases is a rare occurrence. However, despite being occult in majority of these cases, primary tumor can be detected on thyroid imaging or during surgery. Here, we present an extremely rare case of an occult FTC with overt skeletal metastases in which primary tumor was discernible only on microscopic examination.

Suspected Legionella-induced perimyocarditis in an adult in the absence of pneumonia: a rare clinical entity.

PubMed

Burke, Peter T; Shah, Roshni; Thabolingam, Raveend; Saba, Souheil

2009-01-01

Legionella infection can manifest itself in many clinical forms, most commonly as pneumonia, but rarely in the form of myocardial involvement. Legionella with myocardial involvement independent of pneumonia is almost never seen in the adult population and therefore is cited only a handful of times in the medical literature. When reported, Legionella carditis itself typically occurs as an isolated pericarditis with effusion. Cases of isolated Legionella with myocardial involvement, but without associated pneumonia, have been reported among children. To our knowledge, there are no reported cases of Legionella myocarditis and pericarditis presenting concurrently with or without pneumonia, in either an adult or a pediatric population. Herein, we report a rare manifestation of Legionella pneumophila-induced perimyocarditis (strongly suspected, if not incontrovertibly proved) in an adult, in the absence of pneumonia.

Extramedullary plasmacytoma in the carotid space: Expanding the differential diagnosis.

PubMed

Deshpande, Sneha Satish; Kane, Shubhada; Arya, Supreeta

2014-10-01

Plasma cell neoplasms have been classified into various types, with a range of clinical and radiological presentations. Extramedullary plasmacytoma (EMP) is a subset of plasma cell neoplasms which presents as an isolated non-osseous soft tissue mass. Though carotid space neoplasms are commonly encountered, EMP in the carotid space is rare and seldom considered in the initial differential diagnosis of a carotid space mass. These tumors can be treated by surgery or radiotherapy. On the other hand, the commonly encountered tumors in the carotid space are treated surgically. Also, it is mandatory to exclude multiple myeloma in the patients presenting with EMP. Hence, accurate and early diagnosis has therapeutic and prognostic implications. We report a rare case of EMP of the carotid space, describing the imaging features and the differential diagnoses with clues pointing to this rare entity.

[Primary diffuse large B-cell lymphoma of the uterine cervix--a case report].

PubMed

Okudaira, Taeko; Nagasaki, Akitoshi; Miyagi, Takashi; Nakazato, Tetsuro; Taira, Naoya; Kudaka, Wataru; Maehama, Toshiyuki; Takasu, Nobuyuki

2008-08-01

Primary malignant lymphoma of the female genital tract is an extremely rare clinical entity. We report a case of primary non-Hodgkin lymphoma of the uterine cervix. A 68-year-old woman presented with abnormal genital bleeding in May 2002. A coloposcopic examination revealed a mass in the uterine cervix. Magnetic resonance imaging showed a bulky cervical tumor(7.5 x 8 cm)invading the right parametrium and adjacent levator ani muscle. Involvement of pelvic lymph nodes was also observed. The uterine lesion exhibited homogenous hypointensity on T1 weight image and isointense to hyperintense on T2-weight image. No other lesions were detected by the whole-body computed tomography, gallium scintigraphy, and bone marrow examination. Although cytology of the smear from the uterine cervix was nondiagnostic, the histologic examination of the punch biopsy material showed a diffuse proliferation of atypical lymphoid cells. Immunophenotypic studies revealed tumor cells were positive for CD19, CD20, CD30, and k-chain. A diagnosis of diffuse large B-cell lymphoma of the uterine cervix, clinical stage IIE was made. The patient was treated with 6 cycles of cyclophosphamide, doxorubicin, vincristine, and prednisone(CHOP)chemotherapy followed by the involved field irradiation. She remains alive and free of disease more than 5 years after the diagnosis.

PHARMACEUTICALS AS UBIQUITOUS POLLUTANTS ...

EPA Pesticide Factsheets

Those chemical pollutants that are regulated under various international, federal, and state programs represent but a small fraction of the universe of chemicals that occur in the environment as a result of both natural processes and human influence. Although this galaxy of targeted chemicals might be minuscule compared with the universe of both known and yet-to-be identified chemicals, an implicit assumption is that these selective lists of chemicals are responsible for the most significant share of risk with respect to environmental or economic impairment or to human health. Pharmaceuticals and personal care products (PPCPs) comprise a particularly large and diverse array of unregulated pollutants that occur in the environment from the combined activities and actions of multitudes of individuals as well as from veterinary and agricultural use. Although the concentration of any individual PPCP rarely ever exceeds the sub-ppm level (if present in drinking water, concentrations of individual PPCPs are generally less than the ppt-ppb level), evidence is accumulating that these trace-Ievel pollutants are ubiquitous, they can have a continuous presence regardless of environmental half-lives ( e.g., where sanitary wastewaters enter the environment), and the numbers of distinct and varied chemical entities could be extremely large (given that thousands are in commercial use). The research focused on in the subtasks is the development and application of state-of the-ar

Surgical excision of filum terminale arteriovenous fistulae after lumbar fusion: Value of indocyanine green and theory on origins (a technical note and report of two cases)

PubMed Central

Trinh, Victoria T.; Duckworth, Edward A.M

2011-01-01

Background: Intradural filum terminale arteriovenous fistulas (AVFs) are uncommon. We report two cases of this rare entity in which we used indocyanine green (ICG) videoangiography to identify the fistulous connection of each lesion. Case Description: Two male patients presented with unresolved lower extremity weakness and paresthesias following lumbar fusion surgery. In each case, angiography showed an AVF between the filum terminale artery (FTA), the distal segment of the anterior spinal artery (ASA), and an accompanying vein of the filum terminale. A magnetic resonance image (MRI) obtained before lumbar fusion was available in one of these cases and demonstrated evidence of the preexisting vascular malformation. Surgical obliteration of each fistulous connection was facilitated by the use of ICG videoangiography. This emerging technology was instrumental in pinpointing fistula anatomy and in choosing the exact segment of the filum for disconnection. Conclusion: Our findings indicate that intradural filum terminale AVFs may have a congenital origin and that ICG is a useful tool in their successful surgical management. As these cases demonstrate, spine surgeons should remain vigilant in evaluating patients based on their clinical symptomatology, even in the presence of obvious lumbar pathology. PMID:21697980

Transoral videolaryngoscopic surgery for papillary carcinoma arising in lingual thyroid.

PubMed

Mogi, Chisato; Shinomiya, Hirotaka; Fujii, Natsumi; Tsuruta, Tomoyuki; Morita, Naruhiko; Furukawa, Tatsuya; Teshima, Masanori; Kanzawa, Maki; Hirokawa, Mitsuyoshi; Otsuki, Naoki; Nibu, Ken-Ichi

2018-05-15

Carcinoma arising in lingual thyroid is an extremely rare entity accounting for only 1% of all reported ectopic thyroids. Here, we report a case of carcinoma arising in lingual thyroid, which has been successfully managed by transoral resection and bilateral neck dissections. A lingual mass 4-cm in diameter with calcification was incidentally detected by computed tomography at medical check-up. No thyroid tissue was observed in normal position. Ultrasound examination showed bilateral multiple lymphadenopathies. Fine needle aspiration biopsy from lymph node in his right neck was diagnosed as Class III and thyroglobulin level of the specimen was 459ng/ml. Due to the difficulty in performing FNA of the lingual masses, right neck dissection was performed in advance for diagnostic purpose. Pathological examination showed existence of large and small follicular thyroid tissues in several lymph nodes, suggesting lymph node metastasis from thyroid carcinoma. Two months after the initial surgery, video-assisted transoral resection of lingual thyroid with simultaneous left neck dissection was performed. Postoperative course was uneventful. Papillary carcinoma was found in the lingual thyroid and thyroid tissues were also found in left cervical lymph nodes. Video-assisted transoral resection was useful for the treatment of thyroid cancer arising in lingual thyroid. Copyright © 2018 Elsevier B.V. All rights reserved.

Management of intramedullary spinal cord abscess: experience with four cases, pathophysiology and outcomes

PubMed Central

Khriesat, Wadah; Qudsieh, Suhair; Qudsieh, Hanna; Loai, Abu Alia

2009-01-01

Intramedullary spinal cord abscess (ISCA) in children is extremely a rare infection of the central nervous system (CNS); and probably a devastating neurological condition. Clinical awareness of patients at risk is crucial for early diagnosis and intervention; as this entity is one of the treatable conditions of paraparesis. Association with congenital neuro-ectodermal abnormality in children is frequent. This pathology highlights the importance of complete neurological checks of infants as a part of their routine physical examination and early management of patients with congenital dermal sinus, prophylactic surgical resection of such a congenital anomaly is recommended by most authors to prevent serious infections of the CNS. However, once the abscess is established; immediate surgical drainage along side adequate antibiotics should be instituted. This may guarantee improving neurological outcome. In this communication, the authors present their experience with four cases of ISCA in children treated successfully with surgical drainage, intravenous antibiotics and neuro rehabilitation between 2001 and 2006 and discuss their results. We concluded that early diagnosis and treatment is essential; before a devastating mechanico-vascular insult of the spinal cord is established from rapid formation of the abscess and a swift expansion of the spinal cord within the limited intraspinal space. PMID:19172309

Left crossed fused renal ectopia L-shaped kidney type, with double nutcracker syndrome (anterior and posterior).

PubMed

Pupca, Gheorghe; Miclăuş, Graţian Dragoslav; Bucuraş, Viorel; Iacob, Nicoleta; Sas, Ioan; Matusz, Petru; Tubbs, R Shane; Loukas, Marios

2014-01-01

Crossed fused renal ectopia (CFRE) is the second most common fusion anomalies (FAs) of the kidneys after horseshoe kidney. Crossed fused renal ectopia (CFRE) results from one kidney crossing over to the opposite side and subsequent fusion of the parenchyma of the two kidneys. We report, by multidetector-row computed tomography (MDCT) angiography, an extremely rare case of a left CFRE (L-shaped kidney type), consisting of multiple renal arteries (one main renal artery for the upper renal parenchyma, and three renal arteries (one main and two additional) for the lower renal parenchyma) and two left renal veins, which produced a double nutcracker syndrome (both anterior and posterior). The L-shaped left kidney has a maximum length of 18.5 cm, a maximum width of 10.2 cm, and a maximum thickness of 5.3 cm. The upper pole of the kidney is located at the level of the lower third of T12 vertebral body (4.6 cm left to the mediosagittal plan); the lower pole is located along the lower half of the L5 vertebral body (1.5 cm left to the mediosagittal plan). The following case will focus on the relevant anatomy, embryology, and the clinical significance of this entity.

Paediatric arterial ischemic stroke: acute management, recent advances and remaining issues.

PubMed

Rosa, Margherita; De Lucia, Silvana; Rinaldi, Victoria Elisa; Le Gal, Julie; Desmarest, Marie; Veropalumbo, Claudio; Romanello, Silvia; Titomanlio, Luigi

2015-12-02

Stroke is a rare disease in childhood with an estimated incidence of 1-6/100.000. It has an increasingly recognised impact on child mortality along with its outcomes and effects on quality of life of patients and their families. Clinical presentation and risk factors of paediatric stroke are different to those of adults therefore it can be considered as an independent nosological entity. The relative rarity, the age-related peculiarities and the variety of manifested symptoms makes the diagnosis of paediatric stroke extremely difficult and often delayed. History and clinical examination should investigate underlying diseases or predisposing factors and should take into account the potential territoriality of neurological deficits and the spectrum of differential diagnosis of acute neurological accidents in childhood. Neuroimaging (in particular diffusion weighted magnetic resonance) is the keystone for diagnosis of paediatric stroke and other investigations might be considered according to the clinical condition. Despite substantial advances in paediatric stroke research and clinical care, many unanswered questions remain concerning both its acute treatment and its secondary prevention and rehabilitation so that treatment recommendations are mainly extrapolated from studies on adult population. We have tried to summarize the pathophysiological and clinical characteristics of arterial ischemic stroke in children and the most recent international guidelines and practical directions on how to recognise and manage it in paediatric emergency.

Epithelioid Hemangioendothelioma: A Rare Vascular Tumor

PubMed Central

Lakshmi, S Vidya; Prabhavathy, D; Jayakumar, S; Janaki, C; Tharini, G K

2012-01-01

Epithelioid hemangioendothelioma is an intermediate-grade vascular tumor arising from the vascular endothelium, which usually arises in soft tissue, and skin involvement is extremely rare. We report a case that presented with primary cutaneous tumor involving the whole limb and was present since birth. PMID:22470212

Prepubertal unilateral gynecomastia: report of 2 cases.

PubMed

Demirbilek, Hüseyin; Bacak, Gökhan; Baran, Rıza Taner; Avcı, Yahya; Baran, Ahmet; Keleş, Ayşenur; Özbek, Mehmet Nuri; Alanay, Yasemin; Hussain, Khalid

2014-12-01

Prepubertal unilateral gynecomastia is an extremely rare condition. At present, its etiology and management strategy are not well known. Two unrelated prepubertal boys of ages 8 and 9 who presented with complaints of unilateral enlargement of breast tissue are reported. Physical examination, biochemical, hormonal and oncologic work-up findings were normal. Both patients were treated with peripheral liposuction successfully. Histopathological and immunohistochemical examinations showed benign fibroglandular gynecomastia and intensive (3+) estrogen receptor expression in 100% of periductal epithelial cells. Although an extremely rare and generally benign condition, patients with prepubertal unilateral gynecomastia should have a full endocrine and oncologic work-up.

Prepubertal Unilateral Gynecomastia: Report of 2 Cases

PubMed Central

Demirbilek, Hüseyin; Bacak, Gökhan; Baran, Rıza Taner; Avcı, Yahya; Baran, Ahmet; Keleş, Ayşenur; Özbek, Mehmet Nuri; Alanay, Yasemin; Hussain, Khalid

2014-01-01

Prepubertal unilateral gynecomastia is an extremely rare condition. At present, its etiology and management strategy are not well known. Two unrelated prepubertal boys of ages 8 and 9 who presented with complaints of unilateral enlargement of breast tissue are reported. Physical examination, biochemical, hormonal and oncologic work-up findings were normal. Both patients were treated with peripheral liposuction successfully. Histopathological and immunohistochemical examinations showed benign fibroglandular gynecomastia and intensive (3+) estrogen receptor expression in 100% of periductal epithelial cells. Although an extremely rare and generally benign condition, patients with prepubertal unilateral gynecomastia should have a full endocrine and oncologic work-up. PMID:25541897

Exome sequencing in schizophrenic patients with high levels of homozygosity identifies novel and extremely rare mutations in the GABA/glutamatergic pathways.

PubMed

Giacopuzzi, Edoardo; Gennarelli, Massimo; Minelli, Alessandra; Gardella, Rita; Valsecchi, Paolo; Traversa, Michele; Bonvicini, Cristian; Vita, Antonio; Sacchetti, Emilio; Magri, Chiara

2017-01-01

Inbreeding is a known risk factor for recessive Mendelian diseases and previous studies have suggested that it could also play a role in complex disorders, such as psychiatric diseases. Recent inbreeding results in the presence of long runs of homozygosity (ROHs) along the genome, which are also defined as autozygosity regions. Genetic variants in these regions have two alleles that are identical by descent, thus increasing the odds of bearing rare recessive deleterious mutations due to a homozygous state. A recent study showed a suggestive enrichment of long ROHs in schizophrenic patients, suggesting that recent inbreeding could play a role in the disease. To better understand the impact of autozygosity on schizophrenia risk, we selected, from a cohort of 180 Italian patients, seven subjects with extremely high numbers of large ROHs that were likely due to recent inbreeding and characterized the mutational landscape within their ROHs using Whole Exome Sequencing and, gene set enrichment analysis. We identified a significant overlap (17%; empirical p-value = 0.0171) between genes inside ROHs affected by low frequency functional homozygous variants (107 genes) and the group of most promising candidate genes mutated in schizophrenia. Moreover, in four patients, we identified novel and extremely rare damaging mutations in the genes involved in neurodevelopment (MEGF8) and in GABA/glutamatergic synaptic transmission (GAD1, FMN1, ANO2). These results provide insights into the contribution of rare recessive mutations and inbreeding as risk factors for schizophrenia. ROHs that are likely due to recent inbreeding harbor a combination of predisposing low-frequency variants and extremely rare variants that have a high impact on pivotal biological pathways implicated in the disease. In addition, this study confirms that focusing on patients with high levels of homozygosity could be a useful prioritization strategy for discovering new high-impact mutations in genetically complex disorders.

A Rare Case of Splenic Torsion with Sigmoid Volvulus in a 14-Year-Old Girl.

PubMed

Ahmadi, Hamid; Tehrani, Mahdieh Mohammad Khan

2016-01-01

Wandering spleen is an uncommon entity in adults and has been described only rarely with sigmoid volvulus, that rarely affects children and adolescents. It is usually described in adults.Wandering spleen characterized by the abnormal location of the spleen, caused by incomplete fusion of the four primary splenic ligaments, allowing the spleen to be mobile within the abdomen.The wandering spleen can lead to torsion and subsequent splenic infarction or rupture. Clinical suspicion plus urgent investigation and intervention are important. We present a rare clinical case of acute abdomen due to torsion of wandering spleen and volvulus of sigmoid in a 14-year-old girl presented with painful periumbilical mass. Detorsion of sigmoid occurred while undergoing exploratory laparotomy and splenectomy was performed. The possibility of torsion and its complication like gastric, pancreas tail and colon volvulus should be kept in mind in the differential diagnosis of the acute abdomen to avoid serious complications.

Pseudo-Acetabulum due to Heterotopic Ossification in a Child with Post Traumatic Neglected Posterior Hip Dislocation.

PubMed

Pathak, Aditya C; Patil, Atul K; Sheth, Binoti; Bansal, Rohan

2012-01-01

Traumatic neglected dislocations of hip in children are rare entity. Neglected traumatic dislocations of hip in children along with heterotopic ossification are still rare. Post traumatic neglected hip dislocations are to be diagnosed as early as possible and have to be treated with precision and aggression as the outcome of treatment for the same is not predictable. 5 year female with post-traumatic neglected hip dislocation with heterotopic ossification forming a pseudoacetabulum postero-superiorly in which femur head was lodged. The girl was operated by open reduction using Moore's Posterior approach and showed good results. Here is a mention of a rare case with a good 18 months follow up with no complication. Post-traumatic neglected posterior hip dislocation mostly requires open reduction and relocation of femoral head in original acetabulum with concentric reduction. Heterotopic ossification is a rare but known complication of traumatic dislocation of hip in children. Good results can be achieved in such cases and regular follow-up of patient is required post-operatively.

A rare case report of grade III gingival enlargement associated with chronic periodontitis: Comparison of two treatment techniques.

PubMed

Pant, Vandana A; Pandey, Suraj

2015-01-01

Idiopathic gingival enlargement (GE) is a rare entity characterized by massive enlargement of the gingiva. It may be associated with other diseases/conditions characterizing a syndrome, but rarely documented in literature occurring along with chronic periodontitis. This case report describes a rare case of long standing massive GE in a systemically healthy, nonsyndromic young female involving both the arches, thereby posing a diagnostic dilemma. Furthermore, in this case, we compared two surgical approaches, that is, scalpel and electrosurgery for the convenience as well as the postoperative comfort of the patient. Quadrants 1 and 3 were treated by ledge and wedge technique using scalpel and blade while quadrants 2 and 4 were treated by electrosurgery. The patient was followed postoperatively up to 1-year. The massive GE subsided without recurrence and patient was completely satisfied with the treatment, though better compliance was observed at the site treated by conventional scalpel and blade technique.

A rare case report of grade III gingival enlargement associated with chronic periodontitis: Comparison of two treatment techniques

PubMed Central

Pant, Vandana A.; Pandey, Suraj

2015-01-01

Idiopathic gingival enlargement (GE) is a rare entity characterized by massive enlargement of the gingiva. It may be associated with other diseases/conditions characterizing a syndrome, but rarely documented in literature occurring along with chronic periodontitis. This case report describes a rare case of long standing massive GE in a systemically healthy, nonsyndromic young female involving both the arches, thereby posing a diagnostic dilemma. Furthermore, in this case, we compared two surgical approaches, that is, scalpel and electrosurgery for the convenience as well as the postoperative comfort of the patient. Quadrants 1 and 3 were treated by ledge and wedge technique using scalpel and blade while quadrants 2 and 4 were treated by electrosurgery. The patient was followed postoperatively up to 1-year. The massive GE subsided without recurrence and patient was completely satisfied with the treatment, though better compliance was observed at the site treated by conventional scalpel and blade technique. PMID:26668468

Antibody-Mediated Extreme Insulin Resistance: A Report of Three Cases.

PubMed

Kim, Han Na; Fesseha, Betiel; Anzaldi, Laura; Tsao, Allison; Galiatsatos, Panagis; Sidhaye, Aniket

2018-01-01

Type 2 diabetes mellitus is characterized by relative insulin deficiency and insulin resistance. Features suggesting severe insulin resistance include acanthosis nigricans, hyperandrogenism, weight loss, and recurrent hospital admissions for diabetic ketoacidosis. In rare circumstances, hyperglycemia persists despite administration of massive doses of insulin. In these cases, it is important to consider autoimmune etiologies for insulin resistance, such as type B insulin resistance and insulin antibody-mediated extreme insulin resistance, which carry high morbidity and mortality if untreated. Encouragingly, immunomodulatory regimens have recently been published that induce remission at high rates. We describe 3 cases of extreme insulin resistance mediated by anti-insulin receptor autoantibodies or insulin autoantibodies. All cases were effectively treated with an immunomodulatory regimen. Although cases of extreme insulin resistance are rare, it is important to be aware of autoimmune causes, recognize suggestive signs and symptoms, and pursue appropriate diagnostic evaluation. Prompt treatment with immunomodulators is key to restoring euglycemia in patients with autoimmune etiologies of insulin resistance. Copyright © 2018 Elsevier Inc. All rights reserved.

Rare Anomalous Origin of Superior Left Pulmonary Artery from Left Subclavian Vein

DOE Office of Scientific and Technical Information (OSTI.GOV)

Lv, Tian-shi, E-mail: TerrenceLv@126.com; Wang, Chao, E-mail: wangchaoxs@163.com; Song, Li, E-mail: song9981@163.com

2013-10-15

We report for the first time an extremely rare anomalous origin of the superior left pulmonary artery in a 60 year-old man. Although it was occult in clinical indications, such a malformation still ought to be considered, especially during endovascular procedures.

Achondroplasia and multiple-suture craniosynostosis.

PubMed

Albino, Frank P; Wood, Benjamin C; Oluigbo, Chima O; Lee, Angela C; Oh, Albert K; Rogers, Gary F

2015-01-01

Genetic mutations in the fibroblast growth factor receptor 3 gene may lead to achondroplasia or syndromic forms of craniosynostosis. Despite sharing a common genetic basis, craniosynostosis has rarely been described in cases of confirmed achondroplasia. We report an infant with achondroplasia who developed progressive multiple-suture craniosynostosis to discuss the genetic link between these clinical entities and to describe the technical challenges associated with the operative management.

Extensive calvarial tuberculosis: rare complication of tuberculous mastoiditis.

PubMed

Thandar, M A; Fagan, J J; Garb, M

2004-01-01

Tuberculous mastoiditis is a well-documented entity with decreasing incidence in recent years. Tuberculous osteitis of the skull is even rarer. The case of a 58-year-old male with tuberculous mastoiditis complicated by extensive tuberculous osteitis of the skull is presented. This case serves to demonstrate both the difficulty in establishing the diagnosis of tuberculosis and the potentially disastrous consequences of the disease.

[Surgical treatment of a 5 month pregnancy in the rudimentary uterine cornu].

PubMed

Bosković, V; Vrzić-Petronijević, S; Petronijević, M; Berisavac, M; Likić-Ladjević, I

2006-01-01

Cornual ectopic pregnacy is rare clinical entity with high maternal mortality. In all cases surgical treatment is indicated, and taking care of most important complication--haemorrhagic shock. Therapeutic approach is individual and depending of simptomatplogy, gestational age of pregnancy and condition of the patient in time of diagnosis. Authors are presenting the case of cornual ectopic pregnancy of five months.

Intra-cerebral schwannoma simulating glioma.

PubMed

Louis, Elie; Cret, Corina; Poirier, Jacques; Cornu, Philippe; Martin-Duverneuil, Nadine; Delattre, Jean-Yves; Sanson, Marc

2003-09-01

An intra-cerebral schwannoma, presenting as a cystic, calcified, enhancing frontal mass, arising in a 52-year-old woman was misdiagnosed as a glioma and treated with radiotherapy. This observation emphasizes the importance of careful histological reexamination of all brain tumors when a discrepancy appears between the initial histological diagnosis and the clinical evolution, in order to recognize rare curable entities and to avoid potentially toxic treatment.

GIANT PEDUNCULATED SEBORRHEIC KERATOSIS OF PENIS

PubMed Central

Thakur, Jagdeep S; Thakur, Anamika; Chauhan, C G S; Diwana, Vijay K; Chauhan, D C

2008-01-01

Seborrheic keratosis of the penis is a rare entity. It has been mistaken as genital warts and differentiation is only made on histopathology. We are reporting a case presenting as multiple giant polypoidal lesions on the penile skin for the last 20 years. Seborrheic keratosis should be considered in the differential diagnosis of pedunculated lesions of the penis. The histopathology after shave excision will be diagnostic. PMID:19967020

Preoperative diagnosis of bicipitoradial bursitis: a case report.

PubMed

Aldhilan, Asim Saleh

2014-01-01

Inflammation of the bicipitoradial bursa is a rare condition and only few reports can be found in literature. Several causes for a cubital bursitis have been suggested in the past. The need to include a malignant lesion in the differential diagnosis has only been mentioned in one of these reports. May main objective in reporting this case is to make this pathological entity better known.

Preoperative diagnosis of bicipitoradial bursitis: a case report

PubMed Central

Aldhilan, Asim

2014-01-01

Inflammation of the bicipitoradial bursa is a rare condition and only few reports can be found in literature. Several causes for a cubital bursitis have been suggested in the past. The need to include a malignant lesion in the differential diagnosis has only been mentioned in one of these reports. May main objective in reporting this case is to make this pathological entity better known. PMID:25018791

Actinic Prurigo in Scandinavian Adolescent Successfully Treated with Cyclosporine A.

PubMed

Sitek, Jan C

2017-03-13

Actinic prurigo is a pruritic sun-induced dermatosis classified among the immunologically mediated photodermatoses. The disease is a well-known entity among Native Americans and in Central and South America, however rare in Caucasians with only a few reports from Australia, Britain and France. We report the first case of actinic prurigo in a Scandinavian patient, responding favorably to systemic treatment with cyclosporine A.

Shah-Waardenburg Syndrome

PubMed Central

Mahmoudi, Abdelhalim; Rami, Mohamed; Khattala, Khalid; Elmadi, Aziz; Afifi, My Abderrahmane; Youssef, Bouabdallah

2013-01-01

Shah-Waardenburg syndrome (SWS) is a neurocristopathy and is characterized by Hirschsprung's disease (HD), deafness, and depigmentation of hairs, skin, and iris. Is a very rare congenital disorder with variable clinical expression. This report describes a 4-day-old male newborn with Waardenburg's syndrome associated with aganglionosis of the colon and terminal ileum, and review the relevant literature for draws attention to the causal relationship between these two entities. PMID:23565307