rare initial presentation: Topics by Science.gov

Sample records for rare initial presentation

Subacute sclerosing panencephalitis presenting as mania

PubMed Central

Aggarwal, Ashish; Khandelwal, Ashish; Jain, Manish; Jiloha, R. C.

2011-01-01

Subacute sclerosing panencephalitis (SSPE) is a rare, invariably fatal degenerative disease of the central nervous system developing after measles infection. Besides neurological symptoms as initial presenting symptoms, rare reports of its presentation with pure psychiatric symptoms have been reported. We here report a case of 14 year old male who initially presented with manic symptoms and then subsequently diagnosed to be suffering from SSPE. Improtance of ruling our organic conditions is emphasized. PMID:21808475
Subacute Sclerosing Panencephalitis Presenting with Isolated Positive Psychotic and Catatonic Symptoms

PubMed Central

Parmar, Arpit; Ranjan, Rajeev; Sagar, Rajesh

2017-01-01

Subacute sclerosing panencephalitis (SSPE) is a rare slowly progressing neurological illness. Although patients with SSPE initially present with symptoms such as myoclonic jerks, cognitive decline, and personality/behavioral changes usually, rarely pure psychiatric symptoms (e.g., mania, psychosis, and catatonia) have also been reported during the initial course of the illness. We report an unusual case of an adolescent with SSPE presenting with prominent positive psychotic and catatonic symptoms with the absence of classical symptoms of SSPE in initial course of illness and further discussed the relevant literature. PMID:28852257
Subacute Sclerosing Panencephalitis Presenting with Isolated Positive Psychotic and Catatonic Symptoms.

PubMed

Parmar, Arpit; Ranjan, Rajeev; Sagar, Rajesh

2017-01-01

Subacute sclerosing panencephalitis (SSPE) is a rare slowly progressing neurological illness. Although patients with SSPE initially present with symptoms such as myoclonic jerks, cognitive decline, and personality/behavioral changes usually, rarely pure psychiatric symptoms (e.g., mania, psychosis, and catatonia) have also been reported during the initial course of the illness. We report an unusual case of an adolescent with SSPE presenting with prominent positive psychotic and catatonic symptoms with the absence of classical symptoms of SSPE in initial course of illness and further discussed the relevant literature.
A Rare Presentation of the Syndrome of Inappropriate Antidiuretic Hormone in a 12-Year-Old Girl as the Initial Presentation of an Immature Ovarian Teratoma.

PubMed

Iqbal, Anoop Mohamed; Schwenk, W Frederick

2018-02-01

Immature ovarian teratoma is very rare in childhood. We report on a 12-year-old girl with immature ovarian teratoma who presented initially with syndrome of inappropriate antidiuretic hormone. A 12-year-old girl presented with acute abdomen and distention. Initial laboratory tests showed hyponatremia (sodium, 123 mmol/L), that did not respond to fluid management. Computed tomography imaging showed a 15 cm × 9 cm × 20 cm mass in the right ovary with multifocal internal fat, and dystrophic calcifications. She underwent exploratory laparotomy with a right salpingo-oophorectomy, omentectomy, and peritoneal stripping. The pathology revealed metastatic immature teratoma. Hyponatremia resolved soon after the surgery. Although a rare diagnosis, immature ovarian teratoma must be considered in a girl who presents with abdominal mass and hyponatremia. Copyright © 2017 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.
Epithelial-myoepithelial carcinoma with myoepithelial anaplasia: report of a case with cytologic findings of a rare variant.

PubMed

Suzuki, Takashi; Murata, Shin-ichi; Yamaguchi, Hiroshi; Shimizu, Yoshihiko; Shimizu, Michio

2010-01-01

Epithelial-myoepithelial carcinoma (EMC) is usually a low grade malignancy with rare mortality. Rare aggressive variants of EMC, dedifferentiated EMC and EMC with myoepithelial anaplasia have been reported. An 81-year-old man presented with EMC of the parotid gland showing the classical type at the time of initial presentation and a high grade type with myoepithelial anaplasia at recurrence after 10 years. We compared the histologic and cytologic findings of the initial and recurrent tumors. Aspiration cytology of the initial tumor was typical of classical EMC, represented by a biphasic pattern composed of sheetlike and tubular clusters. In contrast, cytologic specimens of the recurrent tumor, which had a focally biphasic pattern similar to that of the initial tumor, also had many isolated or discohesive piled-up clusters of spindle and polygonal cells with nuclear atypia. The cytologic findings of the recurrent tumor were consistent with a rare variant of EMC with myoepithelial anaplasia. To the best of our knowledge, this is the first report of the cytologic finding of an EMC with myoepithelial anaplasia.
Male breast cancer is rare: an initial presentation may be as an abscess.

PubMed

Ventham, N T; Hussien, M I

2010-08-06

Breast cancer in men is rare. Breast cancer presenting initially as an abscess has been described only a handful of times in the literature. We present the first described case of invasive adenocarcinoma presenting as an abscess in a man. An 80-year-old diabetic man presented with symptoms typical of a breast abscess. The abscess failed to respond to percutaneous therapy and excision of breast abscess was performed. Histology revealed an invasive carcinoma. He went on to have a mastectomy. Histology should be obtained from breast abscesses not resolving within 2 months of initial percutaneous therapy. Histology could be obtained by ultrasound-guided fine-needle aspiration (FNA), core or vacuum assisted biopsy, or by formal incision and drainage.
Male breast cancer is rare: an initial presentation may be as an abscess

PubMed Central

Ventham, N T; Hussien, M I

2010-01-01

Breast cancer in men is rare. Breast cancer presenting initially as an abscess has been described only a handful of times in the literature. We present the first described case of invasive adenocarcinoma presenting as an abscess in a man. An 80-year-old diabetic man presented with symptoms typical of a breast abscess. The abscess failed to respond to percutaneous therapy and excision of breast abscess was performed. Histology revealed an invasive carcinoma. He went on to have a mastectomy. Histology should be obtained from breast abscesses not resolving within 2 months of initial percutaneous therapy. Histology could be obtained by ultrasound-guided fine-needle aspiration (FNA), core or vacuum assisted biopsy, or by formal incision and drainage. PMID:22767683
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.
Schwanomma From Cervical Sympathetic Chain Ganglion - A Rare Presentation.

PubMed

Asma, A Affee; Kannah, E

2015-10-01

Schwanommas arising from cervical sympathetic chain are tumours that are rare in occurrence. These lesions are usually difficult to differentiate from a vagal schwanomma and a carotid body tumour during the initial workup. In this report, a rarely seen huge cervical sympathetic chain schwanomma case with partial Horner's syndrome is being presented in detail, which to our known knowledge, is one of the few cases reported in literature.
Vogt-Koyanagi-Harada syndrome presenting with encephalopathy

PubMed Central

Naeini, Alireza E.; Daneshmand, Dana; Khorvash, Farzin; Chitsaz, Ahmad

2014-01-01

Vogt-Koyanagi-Harada (VKH) is a rare syndrome affecting tissues containing melanocytes. The possibility of its autoimmune pathogenesis is supported by high frequent HLA-DR4 presentation, commonly associated with other autoimmune diseases. Eyes are the main affected organs, resulting in blindness. Brain disease is a late-onset event, and is extremely rare. Here, we are reporting a 57-year-old woman, a known case of VKH syndrome, presenting with brain encephalopathy several decades after the initial presentation. We think this long period between initial presentation and presentation of encephalopathy due to VKH syndrome has not been described before. She was treated with corticosteroids and discharged home with a good general condition. PMID:24753681
Schwanomma From Cervical Sympathetic Chain Ganglion – A Rare Presentation

PubMed Central

Asma, A. Affee

2015-01-01

Schwanommas arising from cervical sympathetic chain are tumours that are rare in occurrence. These lesions are usually difficult to differentiate from a vagal schwanomma and a carotid body tumour during the initial workup. In this report, a rarely seen huge cervical sympathetic chain schwanomma case with partial Horner’s syndrome is being presented in detail, which to our known knowledge, is one of the few cases reported in literature. PMID:26557566
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.
Acute acalculous cholecystitis in systemic lupus erythematosus: a rare initial manifestation.

PubMed

Manuel, Valdano; Pedro, Gertrudes Maria; Cordeiro, Lemuel Bornelli; de Miranda, Sandra Maria da Rocha Neto

2016-01-01

Acute acalculous cholecystitis is a very rare gastrointestinal manifestation in systemic lupus erythematosus and becomes rarer as an initial manifestation. There are only two cases reported. The authors report a 20-year-old black woman that presented acute acalculous cholecystitis revealed by abdominal computed tomography. During hospitalization, she was diagnosed systemic lupus erythematosus. Conservative treatment with antibiotics was performed with complete remission of the symptoms. Corticosteroid was started in ambulatory. Cholecystectomy has been the treatment of choice in acute acalculous cholecystitis as a complication of systemic lupus erythematosus. The patient responded well to conservative treatment, and surgery was not required. This case is unique in the way that corticosteroid was started in ambulatory care. We should not forget that the acute acalculous cholecystitis can be the initial presentation of systemic lupus erythematosus although its occurrence is very rare. Conservative treatment should be considered. Abdominal computed tomography was a determinant exam for better assessment of acute acalculous cholecystitis. Copyright © 2013 Elsevier Editora Ltda. All rights reserved.
Aortic Angiosarcoma: A Rare Cause for Leaking Thoracic Aneurysm

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

Hales, S. L., E-mail: sarah.hales@imperial.nhs.uk; Locke, R.; Sandison, A.

Primary malignant tumours of the aorta are rare. They present with aneurysm formation, arterial occlusion, and embolic phenomenon. We report the case of a 56-year-old man whose initial presentation and investigations lead to emergency endovascular stenting of a descending thoracic aneurysm with a contained leak. Initial response was favourable, yet the patient presented again with worsening symptoms. The circum-aortic haematoma expanded by 50% on subsequent imaging, but no endoleak was identified. When altered bone marrow signal was identified on magnetic resonance imaging, the possibility of malignancy was considered. A metastatic skin lesion was then biopsied, which demonstrated morphological and immunohistochemicalmore » features consistent with metastases from a pleomorphic sarcoma of the aorta.« less
Acute renal failure as a form of presentation of sarcoidosis in a young adult: a case report

PubMed Central

2014-01-01

Introduction Sarcoidosis is a systemic granulomatous disease. Renal involvement is a rare initial presentation of this disease. Few articles on renal involvement as an initial presentation of sarcoidosis have been published in the literature. Case presentation A 26-year-old Caucasian woman presented with acute renal failure as an initial manifestation of sarcoidosis. Conclusions Renal involvement is an uncommon feature of sarcoidosis and it is essential to establish a fast and correct diagnosis because early therapy avoids progression to terminal renal failure. PMID:25124289
Unilateral RS3PE in a Patient of Seronegative Rheumatoid Arthritis.

PubMed

Varshney, Ankur Nandan; Kumar, Nilesh; Tiwari, Ashutosh; Anand, Ravi; Prasad, Sashi Ranjan; Anand, Arvind; Mishra, Abhinandan; Singh, N K

2013-01-01

Remitting seronegative symmetrical synovitis with pitting edema (RS3PE) is a rare but well-reported clinical entity. It is classically described as symmetrical involvement of both upper extremities. Asymmetrical involvement had also been reported, but unilateral presentation is very rare. We hereby report a case of unilateral RS3PE in a patient of seronegative rheumatoid arthritis which was initially misdiagnosed as cellulitis and was given high dose antibiotics without any significant improvement. Later a rheumatologic consultation leads to a prompt diagnosis, and treatment with steroids leads to dramatic reversal of symptoms. This case demonstrates the rare presentation of this rare clinical entity and highlights the necessity of awareness regarding unilateral disease to clinicians.
Rare Infratentorial and Supratentorial Localization of Juvenile Angiofibroma: A Case Report.

PubMed

Pašalić, Ivan; Trninić, Ines; Nemir, Jakob; Jednačak, Hrvoje; Žarković, Kamelija; Mrak, Goran

2016-01-01

Angiofibromas are rare tumors of the head and neck that mostly occur in the sphenopalatine region. We present a case of angiofibroma in a young male patient with an unusual and extremely rare localization, which to our knowledge has not been described before. It was situated in the tentorium and spread to the supratentorial and infratentorial regions. The patient initially presented with symptoms of increased intracranial pressure. After a diagnostic evaluation was done, the whole tumor was successfully removed using the supratentorial and infratentorial approach and the microsurgical technique. © 2016 S. Karger AG, Basel.
Bochdalek hernia presenting with initial local fat infiltration of the thoracic cavity in a leukemic child.

PubMed

Kang, Zhen; Min, Xiangde; Wang, Liang

2017-03-01

Local fat infiltration of the thoracic cavity is a rare initial presentation of Bochdalek hernia. We report a case of Bochdalek hernia in a child with leukemia that demonstrated initial local fat infiltration of the thoracic cavity on computed tomography scan and progressed to an obvious diaphragmatic hernia on subsequent follow-up. We suggest that initial local fat infiltration of the thoracic cavity on computed tomography scan may indicate a potential diaphragmatic hernia.
Heavy and Light chain amyloidosois presenting as complete heart block: A rare presentation of a rare disease.

PubMed

Priyamvada, P S; Morkhandikar, S; Srinivas, B H; Parameswaran, S

2015-01-01

Amyloidosis is an uncommon disease characterized by deposition of proteinaceous material in the extracellular matrix, which results from abnormal protein folding. Even though more than 25 precursor proteins are identified, majority of systemic amyloidosis results from deposition of abnormal immunoglobulin (Ig) light chains. In heavy chain amyloidosis (AH), deposits are derived from both heavy chain alone, whereas in heavy and light chain amyloidosis (AHL), the deposits are derived from Ig heavy chains and light chains. Both AH and AHL are extremely rare diseases. Here, we report an unusual presentation of IgG (lambda) AHL amyloidosis in the background of multiple myeloma, where the initial clinical presentation was complete heart block, which preceded the definitive diagnosis by 18 months.
Primary Undifferentiated Pleomorphic Sarcoma of the Penis

PubMed Central

Yoo, Hyung Sun; Satti, Suma

2017-01-01

Background: Primary penile sarcoma is a rare disease that affects men of all ages. Different subtypes of primary penile sarcoma exist, with the rarest being pleomorphic sarcoma. Delays in presentation and diagnosis of primary penile sarcoma have been reported because of its benign-appearing presenting features and rarity. If penile sarcoma is left untreated, the clinical consequence is metastasis that is fatal in most cases. Case Report: We report an extremely rare case of undifferentiated pleomorphic sarcoma of the penis in a 59-year-old patient who initially presented with a slow-growing penile nodule. The tumor was surgically excised, but the patient experienced local recurrence and, despite receiving chemotherapy and surgery, died of metastatic disease 15 months after initial presentation. Conclusion: Vigilance regarding biopsy and intervention for penile nodules may lead to early diagnosis and improved clinical outcomes. PMID:29230132

Unilateral RS3PE in a Patient of Seronegative Rheumatoid Arthritis

PubMed Central

Varshney, Ankur Nandan; Kumar, Nilesh; Tiwari, Ashutosh; Anand, Ravi; Prasad, Sashi Ranjan; Anand, Arvind; Mishra, Abhinandan; Singh, N. K.

2013-01-01

Remitting seronegative symmetrical synovitis with pitting edema (RS3PE) is a rare but well-reported clinical entity. It is classically described as symmetrical involvement of both upper extremities. Asymmetrical involvement had also been reported, but unilateral presentation is very rare. We hereby report a case of unilateral RS3PE in a patient of seronegative rheumatoid arthritis which was initially misdiagnosed as cellulitis and was given high dose antibiotics without any significant improvement. Later a rheumatologic consultation leads to a prompt diagnosis, and treatment with steroids leads to dramatic reversal of symptoms. This case demonstrates the rare presentation of this rare clinical entity and highlights the necessity of awareness regarding unilateral disease to clinicians. PMID:23662237
RECOVERY OF THORIUM AND URANIUM VALUES FROM AQUEOUS SOLUTIONS

DOEpatents

Calkins, G.D.

1958-02-18

This patent deals with the separation and recovery of uranium from monazite sand. After initial treatment of the sand with sodium hydroxide, a precipitate is obtuined which contains the uranium, thorium, rare earths and some phosphorus. This precipitate is then dissolved in nitric acid. The bulk of the rare earths are removed from thls soiution by adding aa excess of alkali carbonate, causing precipitation of the rare earths together with part of the thorium present. The solution still contains a considerable amount of thorium, some rare earths, and practically all of the uranium originally present. Thorium and rare earth values are readily precipitated from such solution, and the uranium values thus isolated, by the addition of an excess hydrogen peroxide. The pH value of the solution is preferably adjusted to at least 9 prior to the addition of the peroxide.
Orbital Metastasis: Rare Initial Presentation of an Occult Gall Bladder Carcinoma.

PubMed

Jain, Tarun Kumar; Parihar, Ashwin Singh; Sood, Ashwani; Basher, Rajender Kumar; Bollampally, Neeraja; Shekhawat, Amit Singh; Mittal, Bhagwant Rai

2018-03-01

Orbital metastases are known to arise from primary breast carcinoma followed by prostate, malignant melanoma, and lung carcinoma. We report a case of orbital metastasis as the initial presentation of an occult primary gall bladder carcinoma. The FDG PET/CT helped in localizing the occult distant primary site, which previously escaped detection, and also enabled the evaluation of orbital metastasis.
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
Recurrent dermatofibrosarcoma protuberans with pulmonary metastases presenting twelve years after initial diagnosis: 18F-FDG PET/CT imaging findings.

PubMed

Suman, Sudhir; Sharma, Punit; Jain, Tarun Kumar; Sahoo, Manas Kumar; Bal, Chandrasekhar; Kumar, Rakesh

2014-01-01

Dermatofibrosarcoma protuberans is a rare cutaneous tumor that is locally aggressive and has a high rate of recurrence after surgical excision. The tumor grows slowly, typically over years. On rare occasions, metastasis to distant sites (especially the lung) or regional lymph nodes may occur. Here, we present F-FDG PET/CT imaging findings of a 52-year-old man with a local recurrence of dermatofibrosarcoma protuberans in the anterior abdominal wall with metastases to bilateral lungs.
Chikungunya Myeloradiculopathy: A Rare Complication

PubMed Central

Krishnan, Mohana; Rahul; Krishnamoorthy

2012-01-01

Chikungunya, an alpha virus belonging to the family of Togaviridae is transmitted to humans by the bite of Aedes aegypti mosquito and presents with fever, headache, rash, and severe arthralgia. Chikungunya virus is not known to be neurotropic, but cases of meningoencephalitis have been reported during outbreaks. The clinical, laboratory and neuroimaging findings of a 56-year-old man who initially developed Chikungunya fever with arthralagia and later on lead to Chikungunya myeloradiculopathy, a relatively unknown and rare complication of the infection has been presented. PMID:23326078
Superficial Palmar Arch Aneurysm after Carpal Tunnel Decompression, a Rare Complication: A Case Report

PubMed Central

Gull, S.; Spence, R. A. J.; Loan, W.

2011-01-01

False aneurysms of the palmar arteries are rare. They are usually associated with traumatic injuries to the hand vasculature. We present a case of superficial palmar arch aneurysm (SPAA), complicating carpal tunnel decompression which presented as a pulsatile mass at the site of previous surgery. Initial diagnosis was made on clinical examination and confirmed on doppler ultrasound (US) and computed tomographic angiography (CTA). The feeding vessel of the aneurysm was subsequently occluded using coil embolization. PMID:21547251
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.
Cardiac presentation of ALK positive anaplastic large cell lymphoma.

PubMed

Lim, Z Y; Grace, R; Salisbury, J R; Creamer, D; Jayaprakasam, A; Ho, A Y L; Devereux, S; Mufti, G J; Pagliuca, A

2005-12-01

Cardiac involvement as an initial presentation of malignant lymphoma is a rare occurrence. We report the case of an immunocompetent 29-year-old male who presented with syncope and arrythmias secondary to a ventricular cardiac mass. Transcutaneous cardiac biopsy was non-diagnostic, therefore an open cardiac biopsy was performed from which a provisional diagnosis of a cardiac inflammatory pseudotumour was made. Six months after presentation, he developed several subcutaneous lesions with systemic symptoms. Histological and immunophenotypic review of the initial cardiac biopsy revealed features consistent with a diagnosis of CD30, ALK1 positive anaplastic large cell lymphoma (ALCL). Despite intensive treatment with combination chemotherapy, there was significant progression of disease, and he died 11 months after diagnosis. The overall prognosis of cardiac lymphoma remains poor, which may be due to the often late presentation of the tumour. To our knowledge, this is the first reported case of a cardiac ALK positive ALCL. Although rare, cardiac presentation of ALCL should be added to the list of differential diagnoses of cardiac lymphomas.
18F-FDG PET/CT Imaging of Hidradenocarcinoma Arising From Preexisting Hidradenoma of the Knee.

PubMed

Patel, Tirth V; Oldan, Jorge

2018-01-01

Malignant tumors of the sweat glands are exceedingly rare and aggressive tumors. We present here a case of a 60-year-old man with a malignant hidradenocarcinoma that developed in a background of preexisting benign hidradenoma on the lateral aspect of the knee that was initially resected, but rapidly recurred with associated inguinal lymphadenopathy. F-FDG PET/CT was performed as part of preoperative staging, which demonstrated abnormal inguinal lymph nodes and metastatic disease to the lungs. FDG PET/CT can play an invaluable role in the initial staging and follow-up of this rare malignancy.
Networking for rare diseases: a necessity for Europe.

PubMed

Aymé, S; Schmidtke, J

2007-12-01

Most rare diseases are life-threatening and chronically debilitating conditions, and the vast majority of them are genetically determined. Their individually low prevalence requires special combined efforts to address them so as to improve diagnosis, care and prevention. Though it is difficult to develop a public health policy specific to each rare disease, it is possible to have a global rather than a piecemeal approach in the areas of scientific and biomedical research, drug research and development, industry policy, information and training, social benefits, hospitalisation and outpatient care. In the recent past, several initiatives at EU and Member States levels have been taken and proved efficient in developing suitable solutions which are now having a positive impact on the quality of life of patients. These initiatives are presented here. They include the establishment of Orphanet, a database of rare diseases and orphan drugs providing an encyclopedia of rare diseases and a directory of associated expert services, the funding of research networks to boost the collaboration between research teams, as well as the funding of networks of clinical centres of reference to better serve the patients and contribute to developing clinical research.
Clinical trial designs for rare diseases: Studies developed and discussed by the International Rare Cancers Initiative

PubMed Central

Bogaerts, Jan; Sydes, Matthew R.; Keat, Nicola; McConnell, Andrea; Benson, Al; Ho, Alan; Roth, Arnaud; Fortpied, Catherine; Eng, Cathy; Peckitt, Clare; Coens, Corneel; Pettaway, Curtis; Arnold, Dirk; Hall, Emma; Marshall, Ernie; Sclafani, Francesco; Hatcher, Helen; Earl, Helena; Ray-Coquard, Isabelle; Paul, James; Blay, Jean-Yves; Whelan, Jeremy; Panageas, Kathy; Wheatley, Keith; Harrington, Kevin; Licitra, Lisa; Billingham, Lucinda; Hensley, Martee; McCabe, Martin; Patel, Poulam M.; Carvajal, Richard; Wilson, Richard; Glynne-Jones, Rob; McWilliams, Rob; Leyvraz, Serge; Rao, Sheela; Nicholson, Steve; Filiaci, Virginia; Negrouk, Anastassia; Lacombe, Denis; Dupont, Elisabeth; Pauporté, Iris; Welch, John J.; Law, Kate; Trimble, Ted; Seymour, Matthew

2015-01-01

Background The past three decades have seen rapid improvements in the diagnosis and treatment of most cancers and the most important contributor has been research. Progress in rare cancers has been slower, not least because of the challenges of undertaking research. Settings The International Rare Cancers Initiative (IRCI) is a partnership which aims to stimulate and facilitate the development of international clinical trials for patients with rare cancers. It is focused on interventional – usually randomised – clinical trials with the clear goal of improving outcomes for patients. The key challenges are organisational and methodological. A multi-disciplinary workshop to review the methods used in ICRI portfolio trials was held in Amsterdam in September 2013. Other as-yet unrealised methods were also discussed. Results The IRCI trials are each presented to exemplify possible approaches to designing credible trials in rare cancers. Researchers may consider these for use in future trials and understand the choices made for each design. Interpretation Trials can be designed using a wide array of possibilities. There is no ‘one size fits all’ solution. In order to make progress in the rare diseases, decisions to change practice will have to be based on less direct evidence from clinical trials than in more common diseases. PMID:25542058
Clinical trial designs for rare diseases: studies developed and discussed by the International Rare Cancers Initiative.

PubMed

Bogaerts, Jan; Sydes, Matthew R; Keat, Nicola; McConnell, Andrea; Benson, Al; Ho, Alan; Roth, Arnaud; Fortpied, Catherine; Eng, Cathy; Peckitt, Clare; Coens, Corneel; Pettaway, Curtis; Arnold, Dirk; Hall, Emma; Marshall, Ernie; Sclafani, Francesco; Hatcher, Helen; Earl, Helena; Ray-Coquard, Isabelle; Paul, James; Blay, Jean-Yves; Whelan, Jeremy; Panageas, Kathy; Wheatley, Keith; Harrington, Kevin; Licitra, Lisa; Billingham, Lucinda; Hensley, Martee; McCabe, Martin; Patel, Poulam M; Carvajal, Richard; Wilson, Richard; Glynne-Jones, Rob; McWilliams, Rob; Leyvraz, Serge; Rao, Sheela; Nicholson, Steve; Filiaci, Virginia; Negrouk, Anastassia; Lacombe, Denis; Dupont, Elisabeth; Pauporté, Iris; Welch, John J; Law, Kate; Trimble, Ted; Seymour, Matthew

2015-02-01

The past three decades have seen rapid improvements in the diagnosis and treatment of most cancers and the most important contributor has been research. Progress in rare cancers has been slower, not least because of the challenges of undertaking research. The International Rare Cancers Initiative (IRCI) is a partnership which aims to stimulate and facilitate the development of international clinical trials for patients with rare cancers. It is focused on interventional--usually randomized--clinical trials with the clear goal of improving outcomes for patients. The key challenges are organisational and methodological. A multi-disciplinary workshop to review the methods used in ICRI portfolio trials was held in Amsterdam in September 2013. Other as-yet unrealised methods were also discussed. The IRCI trials are each presented to exemplify possible approaches to designing credible trials in rare cancers. Researchers may consider these for use in future trials and understand the choices made for each design. Trials can be designed using a wide array of possibilities. There is no 'one size fits all' solution. In order to make progress in the rare diseases, decisions to change practice will have to be based on less direct evidence from clinical trials than in more common diseases. Copyright © 2014 The Authors. Published by Elsevier Ltd.. All rights reserved.
Unusual case of pheochromocytoma presenting with diabetic ketoacidosis.

PubMed

Sedhai, Yub Raj; Reddy, Kruthika; Patel, Dhruvan; Lozada, James A

2016-10-19

Pheochromocytoma is a rare catecholamine-secreting tumour that arises from chromaffin cells in the adrenal medulla or extra-adrenal sympathetic ganglia. It classically presents with paroxysmal headaches, hypertension, palpitations and sweating related to catecholamine excess. Diabetes is reported to be present in approximately one-third of patients with pheochromocytoma; however, diabetic ketoacidosis is an extremely rare complication. We present a case of an African-American male aged 30 years who initially presented with diabetic ketoacidosis and hypertensive urgency whose blood pressure and glycaemic control improved remarkably following tumour excision. We will discuss this unusual presentation of pheochromocytoma along with a management approach for such adrenal incidentalomas. 2016 BMJ Publishing Group Ltd.
Tinea profunda of the genital area. Successful treatment of a rare skin disease.

PubMed

Bakardzhiev, Ilko; Chokoeva, Anastasiya; Tchernev, Georgi; Wollina, Uwe; Lotti, Torello

2016-05-01

We present a rare case of 36-year-old female patient, who developed a severe Majocchi granuloma in the pubis after waxing, with isolated causative agent Trichophyton mentagrophytes. The condition was initially misdiagnosed as a bacterial folliculitis and treated unsuccessfully with topical corticosteroids and antibiotics. After the adequate diagnose was confirmed by mycological examination, followed by histopathological verification, complete remission of the symptoms was achieved at the 4th week after initiating 6 weeks course of antifungal therapy with Terbinafine 250 mg/daily dose, while good therapeutic response was observed even in the 10th day. The etiopathogenesis of the disease, as well as its current treatment options are considered, in respect to the rare occurrence of this condition in the pubic area and its frequent misdiagnosis. © 2015 Wiley Periodicals, Inc.
Pleomorphic adenoma of the palate in a child.

PubMed

Bovino, Brian F; Sohn, Andy; Winston, Daniel

2013-01-01

Presented is a pleomorphic adenoma of the palate in a 12-year-old boy. Pleomorphic adenoma is usually found in adults and is rarely found in patients under 20 years of age. We present initial exam, diagnosis, treatment and a review of literature.
Nephrogenic diabetes insipidus in initial stage of acute lymphoblastic leukemia and relapse after haploidentical hematopoietic stem-cell transplantation: A case report.

PubMed

Li, Dezhi; Liu, Qian; Feng, Zhifang; Zhang, Qi; Feng, Saran

2018-06-01

Nephrogenic diabetes insipidus (NDI) rarely presents in the initial stage of acute lymphoblastic leukemia (ALL) and relapse due to renal infiltration is also rare. A 19-year-old man presented with weakness, polydipsia, and polyuria for 1 month. NDI was diagnosed with insignificant response to a water deprivation test after stimulation with vasopressin injection. Bone marrow examination combined with immunophenotypic analysis, cerebrospinal cytology, and abdominal ultrasonography confirmed the diagnoses of precursor B cell ALL with renal infiltration. The patient accepted standardized combination chemotherapy and ultimately had sustained remission, and his polydipsia and polyuria disappeared after 3 days of treatment. The ALL relapsed 1 year later and he received haploidentical stem cell transplantation (haplo-SCT) from his father. One year later, he again developed NDI, with bilateral renal enlargement because of extramedullary relapse, leading to subsequent death. This case demonstrates unusual early renal involvement in ALL presenting with initial NDI. Interestingly, the NDI returned with the relapse of renal infiltration 1 year after haplo-SCT. This case suggests that NDI was probably secondary to renal leukemic infiltration.
Acute anterior uveitis as the initial presentation of alkaptonuria.

PubMed

John, S S; Padhan, P; Mathews, J V; David, S

2009-01-01

Alkaptonuria is a rare autosomal recessive metabolic disorder that may present with multi-system involvement such as ochronotic arthropathy, renal, urethral and prostatic calculi, cardiac valvular lesions and pigmentation of the skin, sclera, cartilage and other connective tissues. An association of the disease with uveitis has never been reported. We report the first case of alkaptonuria with ochronotic arthropathy presenting with recurrent acute anterior uveitis as the initial manifestation. The possible common link with the HLA-B27 gene is discussed.
Cordylobia rodhaini infestation of the breast: Report of a case mimicking a breast abscess.

PubMed

Grassi, Veronica; Butterworth, James William; Latiffi, Layloma

2016-01-01

Myiasis, parasitic infestation of the body by fly larvae, caused by the Cordylobia rodhaini is very rare with only fourteen cases published since 1970. We present a rare case of myiasis mimicking a breast abscess. A 17-year-old female presented with a nodular ulcerative lesion in her left breast 14days following a trip to Ghana. She had been initially unsuccessfully treated with the antibiotic flucloxacillin following a misdiagnosis of a breast abscess. Following application of Vaseline to the breast wound, covering the wound for 2h and gentle manipulation the larvae was removed successfully and the patient made a good recovery. Presenting as an inflammatory papule with central opening oozing serosanguinous fluid myiasis secondary to C. rodhaini can easily be mistaken for a breast abscess, often avoiding detection by unsuspecting surgeons on initial assessment. In turn ineffective antibiotic treatment is often prescribed leading to further disease progression and associated morbidity. Myiasis secondary to C. rodhaini is a rare but important differential surgeons should consider in women presenting with an inflammatory breast lesion with a recent history of foreign travel to ensure timely diagnosis and treatment. Ultrasound imaging can be useful in confirming diagnosis and avoiding treatment delays. Copyright © 2016 The Authors. Published by Elsevier Ltd.. All rights reserved.

Long-term follow-up of 2 patients treated with 90 Y-rituximab Radioimmunotherapy for relapse of nodular lymphocyte-predominant Hodgkin lymphoma.

PubMed

Golstein, S; Muylle, K; Vercruyssen, M; Spilleboudt, C; de Wind, A; Bron, D

2018-05-02

Nodular lymphocyte-predominant Hodgkin lymphoma (NLPHL) is a rare lymphoma (< 5% of Hodgkin's lymphomas) predominantly affecting the middle-aged man, with an indolent behavior. Given the rare occurrence of this lymphoma, there are currently no clear guidelines for initial treatment or relapse. In this report, we present the follow up of two patients treated by radioimmunotherapy for first relapse of their NLPHL. Both patients were initially treated with rituximab and relapsed 1 year after the end of their treatment. This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved.
A persistent mass: A case of aggressive Angiomyxoma of the vulva.

PubMed

Brzezinska, B N; Clements, A E; Rath, K S; Reid, G C

2018-05-01

We present a case of aggressive angiomyxoma of the vulva. The patient presented with a persistent, enlarging vulvar mass, initially misdiagnosed as a Bartholin gland cyst. The patient underwent wide local excision, which resulted in total resection of the mass. Final pathology was consistent with aggressive angiomyxoma, a rare soft tissue tumor with a predilection for the female pelvis. Though rare, it is important to consider in the differential diagnosis of a pelvic mass, given the locally aggressive nature of this tumor and propensity for recurrence.
Wound botulism.

PubMed

Burningham, M D; Walter, F G; Mechem, C; Haber, J; Ekins, B R

1994-12-01

Wound botulism is a rare infectious and toxicologic complication of trauma and i.v. drug abuse. Only 39 cases have been reported in detail in the English literature. This case report describes a patient with wound botulism who presented to four medical facilities before receiving definitive diagnosis and treatment. Although his history and physical examination were consistent with wound botulism, diagnosis and therapy were delayed because this rare disease was not considered initially in the differential diagnosis. Wound botulism should be considered in trauma patients and i.v. drug abusers who present with cranial nerve palsies and descending paresis.
[Gastric perforation caused by primary gastric diffuse large B cell lymphoma].

PubMed

Kim, Ju Seok; Rou, Woo Sun; Ahn, Byung Moo; Moon, Hee Seok; Kang, Sun Hyung; Sung, Jae Kyu; Jeong, Hyun Yong; Song, Kyu-Sang

2015-01-01

Spontaneous gastric perforation is a rare complication of gastric lymphoma that is potentially life threatening since it can progress to sepsis and multi-organ failure. Morbidity also increases due to prolonged hospitalization and delay in initiating chemotherapy. Therefore prompt diagnosis and appropriate treatment is critical to improve prognosis. A 64-year-old man presented to the emergency department with severe abdominal pain. Chest X-ray showed free air below the right diaphragm. Abdominal CT scan also demonstrated free air in the peritoneal cavity with large wall defect in the lesser curvature of gastric lower body. Therefore, the patient underwent emergency operation and primary closure was done. Pathologic specimen obtained during surgery was compatible to diffuse large B cell lymphoma. Fifteen days after primary closure, the patient received subtotal gastrectomy and chemotherapy was initiated after recovery. Patient is currently being followed-up at outpatient department without any particular complications. Herein, we report a rare case of gastric lymphoma that initially presented as peritonitis because of spontaneous gastric perforation.
A rare case of recurrent ovarian cancer presenting as a round ligament metastasis.

PubMed

Togami, Shinichi; Kato, Tomoyasu; Oi, Takateru; Ishikawa, Mitsuya; Onda, Takashi; Ikeda, Shun-ichi; Kasamatsu, Takahiro

2011-11-07

We report a rare case of recurrent ovarian cancer presenting as a round ligament metastasis. A 44-year-old woman presented with a lower abdominal mass. Computed tomography showed a pelvic mass. Primary surgery was performed. A histopathological examination showed an ovarian serous adenocarcinoma of Stage IIIb. The patient received 6 cycles of paclitaxel and carboplatin. Almost 2 years after the initial operation, the patient noticed a left inguinal mass. Computed tomography showed a left inguinal mass, 18 mm in size. An excisional biopsy was performed and the tumor was found to originate in the left round ligament. A histopathological examination showed serous adenocarcinoma and there was no evidence of lymph node tissue. Recurrence of ovarian cancer in the round ligament is extremely rare. This unique case suggests, however, that the round ligament in rare cases may be a recurrence site for ovarian cancer, and that accurate differentiation including confirmation by diagnostic imaging and excisional biopsy, is necessary for a definitive pathological diagnosis.
Selective removal of either metastable species from a mixed 3P 0,2 rare-gas metastable beam

NASA Technical Reports Server (NTRS)

Dunning, F. B.; Cook, T. B.; West, W. P.; Stebbings, R. F.

1975-01-01

A tunable CW laser has been used to selectively remove either of the two metastable species, 3P 0,2, which are initially present in a neon metastable beam. The method is applicable to other rare gases and provides the opportunity for separate investigation of effects due to atoms in either the 3P 0 or 3P 2 state.
Granulomatous lobular mastitis secondary to Mycobacterium fortuitum.

PubMed

Kamyab, Armin

2016-12-16

Granulomatous lobular mastitis is a rare inflammatory disease of the breast of unknown etiology. Most present as breast masses in women of child-bearing age. A 29-year-old female presented with a swollen, firm and tender right breast, initially misdiagnosed as mastitis. Core needle biopsy revealed findings consistent with granulomatous lobular mastitis, and cultures were all negative for an infectious etiology. She was started on steroid therapy to which she initially responded well. A few weeks later she deteriorated and was found to have multiple breast abscesses. She underwent operative drainage and cultures grew Mycobacterium fortuitum . Granulomatous lobular mastitis is a rare inflammatory disease of the breast. The definitive diagnose entails a biopsy. Other causes of chronic or granulomatous mastitis should be ruled out, including atypical or rare bacteria such as Mycobacterium fortuitum . This is the first reported case of granulomatous mastitis secondary to Mycobacterium fortuitum . With pathologic confirmation of granulomatous mastitis, an infectious etiology must be ruled out. Atypical bacteria such as Mycobacterium fortuitum may not readily grow on cultures, as with our case. Medical management is appropriate, with surgical excision reserved for refractory cases or for drainage of abscesses.
Lemierre's Syndrome – A rare cause of disseminated sepsis requiring multi-organ support

PubMed Central

Misselbrook, Katie

2017-01-01

Lemierre's syndrome is a rare complication of acute pharyngitis characterised by septicaemia with infective thrombophlebitis of the internal jugular vein, most commonly due to Fusobacterium necrophorum. It characteristically affects healthy young adults causing persistent pyrexia and systemic sepsis presenting several days after an initial pharyngitis. Septic emboli seed via the bloodstream to distant sites including the lung, joints, skin, liver, spleen and brain. Prolonged antimicrobial therapy is required and admission to intensive care common. This once rare condition is increasing in incidence but awareness amongst clinicians is low. We present a classic case in a young man who developed multi-organ failure requiring intensive care support and describe the epidemiology, pathophysiology, microbiology, clinical features and management of the disease. PMID:29123565
Malignant Melanoma Presenting as a Mediastinal Malignant Melanoma Presenting as a Mediastinal Unknown Primary Origin?

PubMed

Pujani, Mukta; Hassan, Mohd Jaseem; Jetley, Sujata; Raina, Prabhat Kumar; Kumar, Mukesh

2017-01-01

The most common site of primary malignant melanoma is the skin, however, virtually any organ system may be involved. Metastatic melanoma of unknown primary origin accounts for approximately 2-6% of all melanoma cases. The mediastinum as the site for malignant melanoma is extremely rare, both as a primary or metastatic lesion. Primary malignant melanoma of mediastinum is very rare with only a handful of reports in the literature. We hereby report a rare case of malignant melanoma of mediastinum in a 31 year old male who was initially misdiagnosed on fine needle aspiration cytology as adenocarcinoma for which he received chemotherapy with clinical deterioration. Even on extensive meticulous search, no primary was discovered.
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.
Status Cataplecticus as Initial Presentation of Late Onset Narcolepsy

PubMed Central

Panda, Samhita

2014-01-01

Narcolepsy, one of the important causes of hypersomnia, is an under diagnosed sleep disorder. It has a bimodal age of onset around 15 and 35 years. It is characterized by the tetrad of excessive daytime sleepiness, cataplexy, hypnagogic/ hypnopompic hallucinations, and sleep paralysis. Cataplexy is by far the most predictive feature of narcolepsy. Status cataplecticus is the occurrence of cataplexy repeatedly for hours or days, a rare presentation of narcolepsy. This report describes an elderly gentleman with late onset narcolepsy in the sixth decade of life presenting with initial and chief symptom of status cataplecticus. Citation: Panda S. Status cataplecticus as initial presentation of late onset narcolepsy. J Clin Sleep Med 2014;10(2):207-209. PMID:24533005
Magnetomigration of rare-earth ions in inhomogeneous magnetic fields.

PubMed

Franczak, Agnieszka; Binnemans, Koen; Jan Fransaer

2016-10-05

The effects of external inhomogenous (gradient) magnetic fields on the movement of the rare-earth ions: Dy 3+ , Gd 3+ and Y 3+ , in initially homogeneous aqueous solutions have been investigated. Differences in the migration of rare-earth ions in gradient magnetic fields were observed, depending on the magnetic character of the ions: paramagnetic ions of Dy 3+ and Gd 3+ move towards regions of the sample where the magnetic field gradient is the strongest, while diamagnetic ions of Y 3+ move in the opposite direction. It has been showed that the low magnetic field gradients, such the ones generated by permanent magnets, are sufficient to observe the magnetomigration effects of the ions in solution. The present work clearly establishes the behavior of magnetically different ions in initially homogeneous aqueous solutions exposed to magnetic field gradients. To this avail, a methodology for measuring the local concentration differences of metal ions in liquid samples was developed.
Medial subclavicular musculotendinous complex and insulation break: Rare cause of late pacemaker lead malfunction

PubMed Central

Bhattacharyya, Pranab Jyoti; Agrawal, Shweta; Barkataky, Jogesh Chandra; Bhattacharyya, Anjan Kumar

2015-01-01

Insulation break in a permanent pacemaker lead is a rare long-term complication. We describe an elderly male with a VVIR pacemaker, who presented with an episode of presyncope more than 3 years after the initial implantation procedure, attributed to insulation break possibly caused by lead entrapment in components of the medial subclavicular musculotendinous complex (MSMC) and repeated compressive damage over time during ipsilateral arm movement requiring lead replacement. The differential diagnosis of a clinical presentation when pacing stimuli are present with failure to capture and the role of the MSMC in causing lead damage late after implantation are discussed. PMID:26995445
[Acute renal failure: a rare presentation of Addison's disease].

PubMed

Salhi, Houda

2016-01-01

Addison's disease is a rare condition. Its onset of symptoms most often is nonspecific contributing to a diagnostic and therapeutic delay. Acute renal failure can be the first manifestation of this disease. We report the case of a patient with Addison's disease who was initially treated for acute renal failure due to multiple myeloma and whose diagnosis was adjusted thereafter. Patient's condition dramatically improved after treatment with intravenous rehydration; injectable hydrocortisone.
Black-spot poison ivy: a rare phenomenon.

PubMed

Paniagua, Carmen T; Bean, Ashley S

2011-06-01

To provide an overview of the clinical presentation, diagnosis, management, and treatment with advanced practice nursing implications of black-spot poison ivy phenomenon. Case presentation and comprehensive literature review on black-spot poison ivy. Black-spot poison ivy is a rare phenomenon and usually poses a diagnostic challenge. It usually presents after exposure to a higher concentration of uroshiol on Toxicodendron plants. Patients present with black-spot deposits on the epidermis with underlying poison ivy dermatitis. The black deposits cannot be washed off the skin and are followed by itchy blisters. They eventually peel off and the skin heals without scarring. An understanding of the pathophysiology, clinical presentation, treatment, and management of this rare phenomenon is important for the nurse practitioner (NP) to be able to make an accurate diagnosis and initiate appropriate treatment without delay. The NP's recognition and differentiation of it from other skin disorders including melanoma is paramount. ©2011 The Author(s) Journal compilation ©2011 American Academy of Nurse Practitioners.
Castleman's Disease: An Interesting Cause of Hematuria.

PubMed

Tolofari, Sotonye Karl; Chow, Wai-Man; Hussain, Basharat

2015-03-01

Castleman's disease is a rare benign lymphoproliferative disorder, characterized by benign growths of the lymph node tissue. It is associated with a number of malignancies, including Kaposi sarcoma, non-Hodgkin's and Hodgkins lymphoma, and POEMS syndrome. This report describes the case of a 38 year old gentleman, presenting with painless hematuria. Initial investigations, including flexible cystoscopy were unremarkable. However, subsequent imaging including CT Urogram and MR pelvis revealed multiple prevesical lesions. Histology obtained from excision biopsy revealed histological features consistent with Castleman's disease. In this report we discuss the nature, presentation and treatment modalities of this rare condition.
Tuberculosis post-liver transplantation: a rare but complicated disease.

PubMed

Lu, W; Wai, C T; Da Costa, M; Tambyah, P A; Prabhakaran, K; Lee, K H

2005-03-01

Tuberculosis is a rare but serious complication after transplantation. We report a case and discuss its presentation and management. A 60-year-old Indonesian male presented initially with fever, acute confusion and rapidly progressive right upper lobe pneumonia 3.5 months post-liver transplant, and was diagnosed with pulmonary tuberculosis by positive sputum smear for acid-fast bacilli and tuberculosis culture. Standard anti-tuberculosis therapy was administered but was complicated by interaction with cyclosporine and drug-induced cholestasis. A high level of suspicion, prompt antituberculosis treatment and close follow-up are essential in management of post-transplant tuberculosis.
Laryngeal Involvement of Rhabdomyosarcoma in an Adult

PubMed Central

Abali, Hüseyin; Aksoy, Sercan; Sungur, Arzu; Yalçin, Suayib

2003-01-01

Background Although initial presentation of sarcomas in the head and neck region is relatively common, involvements of the larynx by rhabdomyosarcoma either primary or metastatic have been reported rarely. Case report A case of rhabdomyosarcoma in the right thigh, which involved laryngeal structures three years after the diagnosis, is presented. Conclusions The laryngeal involvement by primary and metastatic rhabdosarcomas is very rare, however when it occurs it can result in life treating upper airway obstruction. After emergency intervention, radiotherapy and / or chemotherapy must be undertaken for long-term benefit and surgery may be helpful only in selected cases. PMID:14556654
A rare cause of postpartum low back pain: pregnancy- and lactation-associated osteoporosis.

PubMed

Terzi, Rabia; Terzi, Hasan; Özer, Tülay; Kale, Ahmet

2014-01-01

Pregnancy- and lactation-associated osteoporosis (PLO) is a rare form of osteoporosis. It results in severe low back pain in the last trimester of pregnancy and in the postpartum period, decreases in height, and fragility fractures, particularly in the vertebra. The current case report presents a 32-year-old patient who presented with back and low back pain that began in the last trimester of the pregnancy and worsened at two months postpartum and who was diagnosed with pregnancy- and lactation-associated osteoporosis after exclusion of other causes; the findings are discussed in view of the current literature. PLO is a rare clinical condition causing significant disability. PLO must be kept in mind in the differential diagnosis in patients presenting with low back pain during or after pregnancy. The patients must be evaluated for the risk factors of PLO, and an appropriate therapy must be initiated.
Foudroyant Course of an Extensive Clostridium septicum Gas Gangrene in a Diabetic Patient with Occult Carcinoma of the Colon

PubMed Central

Kutup, Asad; Gehl, Axel; Zustin, Jozef; Grossterlinden, Lars G.; Rueger, Johannes M.; Lehmann, Wolfgang

2013-01-01

Background. Spontaneous gas gangrene is a rare disease in which Clostridium septicum frequently can be detected. After an incubation period of 5–48 hours, a very painful swelling is accompanied by a rapidly spreading toxic-infectious clinical picture ultimately leading to septic shock and multiple organ failure. We present a case of a completely documented rare infectious disease with triage findings including initial vital signs, initial medical findings, and the emergency lab., radiological, intraoperative, histopathological, microbiological, and postmortem results. After initial diagnosis of the underlying disease, the patient has been immediately transferred to the operating theatre. The laboratory findings reflect the devastating effect of toxin α which is a toxin typically produced by C. septicum. The patient presented both an anaemia and a manifest coagulopathy as well as an onset of multiple organ failure. Despite the aggressive medical and surgical measures that have been taken, this patient could not be saved. Discussion. The case presented vividly emphasises the difficulty to identify these cases early enough to save a patient. This documentation may help health care providers to identify this life threatening disease as early as possible in future cases. PMID:23864974

[Subglottic stenosis as the initial manifestation of Wegener's granulomatosis in a teenager. Case report].

PubMed

Cuestas, Giselle; Rodríguez, Verónica; Doormann, Flavia; Pringe, Alejandra; Bellia Munzón, Patricio; Bellia Munzón, Gastón; Ortega, Carlos; Álvarez, Rubén

2017-04-01

Wegener's granulomatosis is a necrotizing granulomatous vasculitis of autoimmune origin that primarily affects the upper and lower airways and kidneys. It is very rare in children and adolescents. When started at a young age it is often associated with subglottic stenosis. Subglottic stenosis is a potentially fatal manifestation of Wegener's granulomatosis. Its diagnosis requires a high index of suspicion since it might develop in the absence of other signs of activity. Occasionally, subglottic stenosis may present as the initial manifestation of the disease. Diagnosis is confirmed by endoscopic visualization of the lesion. The treatment is complex, and it often requires repeated interventions due to restenosis. We present a 13-year-old patient with subglottic stenosis secondary to Wegener's granulomatosis. We describe the clinical manifestations, diagnosis and treatment of this rare cause of respiratory distress in the pediatric population. Sociedad Argentina de Pediatría.
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.
Unconvincing diagnosis of a rare subtype of primary gastric lymphoma with incongruent endoscopic presentation: a case of gastric schwannoma.

PubMed

Lee, Seung Soo; Kim, In Ho

2013-12-01

Primary gastric lymphoma is a rare gastric malignancy. Its diagnostic process is complex. Clinician may find initial diagnosis of primary gastric lymphoma unreliable, especially when it indicates the rarest subtype of gastric lymphoma, while its initial endoscopic presentation fails to raise the slightest suspicion of primary gastric lymphoma. A 53-year-old Korean man was diagnosed, by endoscopic examination, with a round submucosal tumor of the stomach. Deep endoscopic biopsy, however, confirmed CD5 positive gastric lymphoma. Surgical treatment was performed for diagnosis and treatment. Postoperative histo-logical examination confirmed gastric schwannoma. Gastric schwannoma is a spindle cell tumor, characterized by a peripheral cuff-like lymphocytic infiltration. Deep endoscopic biopsy may have been misdirected to the peripheral lymphoid cuff, failing to acquire spindle cells. The literature has been reviewed, and options for diagnostic accuracy have been suggested.
Economic aspects of rare diseases.

PubMed

Borski, Krzysztof

2015-01-01

Economic problems related to the prevention, diagnosis and treatment of rare diseases are presented paying particular attention to the costs of financing treatment, including the issue of its refund, which is a fundamental and difficult to solve economic problem of the health care system. Rare diseases, despite the low frequency of occurrence, together cover a large group of diseases being a serious medical, social and economic problem. The adoption of Polish National Plan for Rare Diseases resulting from the recommendations of the Council of the European Union, the extension of institutional activities related to the area of public health and social initiatives seeking innovative solutions to create a model of social support for patients and their families, with very high complexity of the issues regarding rare diseases, results in the need for a coherent, comprehensive, system operations and adoption of comprehensive solutions.
Case report: a rare cause of metabolic alkalosis

PubMed Central

Gebara, Otávio C.E.; Callas, Silvia H.V.; Hoff, Ana O.; Hoff, Paulo M.; Galvão, P.C.A.

2011-01-01

A case of a 66-year-old white man with recent onset of oedema, hypertension, metabolic alkalosis and profound hypokalaemia is described. The initial laboratorial workup showed that urinary chloride concentration and potassium excretion were increased, suggesting a state of hyperaldosteronism. Nonetheless, renin activity was low and aldosterone levels were normal. The metabolic alkalosis seen in this case was due to a rare cause, the ectopic adrenocorticotropic hormone syndrome. A literature review in the subject is presented. PMID:25984146
CEMARA: a Web dynamic application within a N-tier architecture for rare diseases.

PubMed

Messiaen, Claude; Le Mignot, Loïc; Rath, Ana; Richard, Jean-Baptiste; Dufour, Eric; Ben Said, Mohamed; Jais, Jean-Philippe; Verloes, Alain; Le Merrer, Martine; Bodemer, Christine; Baujat, Geneviève; Gerard-Blanluet, Marion; Bourdon-Lanoy, Eva; Salomon, Rémi; Ayme, Ségolène; Landais, Paul

2008-01-01

Rare diseases include a group of conditions characterized by a prevalence lower than 5 per 10,000 in the community. In France, any rare disease affects less than 30,000 patients and often much less. Three to 4% of children and 6% of the population in Europe are affected. It is a true public health stake since most diseases do not have any curative treatment. In France, the Ministry of Health has initiated a National Rare Diseases Plan. Twenty five out of 132 labelled Reference Centres (RC) decided to share a common Information System named CEMARA. It is dedicated to collect continuous and complete records of all patients presenting with a rare disease, and their follow-up. The main objective of CEMARA is to contribute to the missions of the RC regarding the registration and description of their activities, coordination of the network of their correspondents, organization of the follow-up of rare diseases, and analysis of the epidemiological patterns. A description of CEMARA is provided as well as its cooperation with Orphanet and Genatlas, and a presentation of 11803 current records collected by more than 300 health care professionals belonging to more than 70 sites.
A Global Approach to Rare Diseases Research and Orphan Products Development: The International Rare Diseases Research Consortium (IRDiRC).

PubMed

Cutillo, Christine M; Austin, Christopher P; Groft, Stephen C

2017-01-01

Rare diseases present unique challenges to researchers due to the global distribution of patients, complexity and low prevalence of each disease, and limited availability of data. They are also overwhelming and costly for patients, their families, communities, and society. As such, global integration of rare diseases research is necessary to accelerate the understanding, diagnosis, and treatment of rare disorders. The International Rare Diseases Research Consortium (IRDiRC) was born out of that need for a coordinated international community. IRDiRC was launched in 2011 to facilitate cooperation and collaboration on a global scale among the many stakeholders active in rare diseases research to stimulate better coordination, and thereby maximize output of rare diseases research efforts around the world. Members include funders, academic researchers, companies, and patient advocacy organizations all of whom share the common goals and principles of IRDiRC. The overarching objectives of the Consortium are to contribute to the development of 200 new therapies and a means to diagnose most rare diseases, by 2020. As IRDiRC approaches the end of its fifth year, these initial objectives have been largely achieved and new partners from across the globe are joining. This presents the Consortium with the exciting opportunity to set new and even more ambitious goals for the next phase with the ultimate goal of improved health through faster and better diagnostic capabilities and novel therapies for people living with rare diseases and conditions throughout the world.
Hydrocephalus: a rare initial manifestation of sporadic intramedullary hemangioblastoma : Intramedullary hemangioblastoma presenting as hydrocephalus.

PubMed

Morais, Barbara Albuquerque; Cardeal, Daniel Dante; Ribeiro E Ribeiro, Renan; Frassetto, Fernando Pereira; Andrade, Fernanda Goncalves; Matushita, Hamilton; Teixeira, Manoel Jacobsen

2017-08-01

Intramedullary hemangioblastomas are rare benign vascular tumors, infrequent in pediatric patients. Clinical symptoms vary according to the age of presentation, tumor size, location, and concomitant syringomyelia. This is the second reported case of hemangioblastoma presenting with acute hydrocephalus. A 3-month-old infant with acute hydrocephalus was asymptomatic after a ventriculoperitoneal shunt was placed. She returned 3 months later with irritability, acute paraplegia, and respiratory distress. Magnetic resonance imaging (MRI) showed an intramedullary T8-T9 tumor with syringomyelia. She underwent surgical resection with good results during the 6-month follow-up. Intramedullary tumors may present as hydrocephalus and other nonspecific symptoms, with invariably delayed diagnosis in children, but must be considered in suspicious cases.
Granulomatous lobular mastitis secondary to Mycobacterium fortuitum

PubMed Central

Kamyab, Armin

2016-01-01

Granulomatous lobular mastitis is a rare inflammatory disease of the breast of unknown etiology. Most present as breast masses in women of child-bearing age. A 29-year-old female presented with a swollen, firm and tender right breast, initially misdiagnosed as mastitis. Core needle biopsy revealed findings consistent with granulomatous lobular mastitis, and cultures were all negative for an infectious etiology. She was started on steroid therapy to which she initially responded well. A few weeks later she deteriorated and was found to have multiple breast abscesses. She underwent operative drainage and cultures grew Mycobacterium fortuitum. Granulomatous lobular mastitis is a rare inflammatory disease of the breast. The definitive diagnose entails a biopsy. Other causes of chronic or granulomatous mastitis should be ruled out, including atypical or rare bacteria such as Mycobacterium fortuitum. This is the first reported case of granulomatous mastitis secondary to Mycobacterium fortuitum. With pathologic confirmation of granulomatous mastitis, an infectious etiology must be ruled out. Atypical bacteria such as Mycobacterium fortuitum may not readily grow on cultures, as with our case. Medical management is appropriate, with surgical excision reserved for refractory cases or for drainage of abscesses. PMID:28035314
Rare Skeletal Complications in the Setting of Primary Hyperparathyroidism

PubMed Central

Sabanis, Nikos; Gavriilaki, Eleni; Paschou, Eleni; Kalaitzoglou, Asterios; Papanikolaou, Dimitrios; Ioannidou, Pinelopi; Vasileiou, Sotirios

2015-01-01

Parathyroid carcinoma represents an extremely rare neoplasm with diverse clinical manifestations which vary from asymptomatic patients to severe complications of hypercalcemia or parathyrotoxicosis while skeletal involvement is rather common. Herein we aimed at presenting a unique case of a young patient with rare aggressive skeletal complications of parathyroid cancer that initially were misdiagnosed. Ossification of the cervical ligamentum flavum and skull tumor illustrates erosive bonny lesions of hyperparathyroidism that in association with previous medical history of recurrent nephrolithiasis and biochemical findings guide the diagnosis. We suggest that increased awareness and holistic approach are needed in order to recognize and further investigate signs and symptoms of hyperparathyroidism. PMID:26664767
Rare Skeletal Complications in the Setting of Primary Hyperparathyroidism.

PubMed

Sabanis, Nikos; Gavriilaki, Eleni; Paschou, Eleni; Kalaitzoglou, Asterios; Papanikolaou, Dimitrios; Ioannidou, Pinelopi; Vasileiou, Sotirios

2015-01-01

Parathyroid carcinoma represents an extremely rare neoplasm with diverse clinical manifestations which vary from asymptomatic patients to severe complications of hypercalcemia or parathyrotoxicosis while skeletal involvement is rather common. Herein we aimed at presenting a unique case of a young patient with rare aggressive skeletal complications of parathyroid cancer that initially were misdiagnosed. Ossification of the cervical ligamentum flavum and skull tumor illustrates erosive bonny lesions of hyperparathyroidism that in association with previous medical history of recurrent nephrolithiasis and biochemical findings guide the diagnosis. We suggest that increased awareness and holistic approach are needed in order to recognize and further investigate signs and symptoms of hyperparathyroidism.
Delayed splenic rupture presenting 70 days following blunt abdominal trauma.

PubMed

Resteghini, Nancy; Nielsen, Jonpaul; Hoimes, Matthew L; Karam, Adib R

2014-01-01

Delayed splenic rupture following conservative management of splenic injury is an extremely rare complication. We report a case of an adult patient who presented with delayed splenic rupture necessitating splenectomy, 2 months following blunt abdominal trauma. Imaging at the initial presentation demonstrated only minimal splenic contusion and the patient was discharge following 24 hours of observation. © 2014.
Late recovery in cerebral fat embolism

PubMed Central

Srikanth, KP; Sundararajan, SR; Rajasekaran, S

2014-01-01

Fat embolism syndrome presenting primarily with cerebral manifestations is rarely reported. We report here two such patients who showed complete recovery following initial deterioration. The aim of these reports is to highlight that prolonged intensive care and good rehabilitation can lead to normal neurologic recovery despite poor clinical picture initially. The importance of adequate oxygenation to prevent secondary brain damage is emphasized during prolonged recovery. PMID:24600071
Insulin Oedema in Newly Diagnosed Type 1 Diabetes Mellitus

PubMed Central

Çetinkaya, Semra; Yılmaz Ağladıoğlu, Sebahat; Peltek Kendirici, Havva Nur; Bilgili, Hatice; Yıldırım, Nurdan; Aycan, Zehra

2010-01-01

Despite the essential role of insulin in the management of patients with insulin deficiency, insulin use can lead to adverse effects such as hypoglycaemia and weight gain. Rarely, crucial fluid retention can occur with insulin therapy, resulting in an oedematous condition. Peripheral or generalised oedema is an extremely rare complication of insulin therapy in the absence of heart, liver or renal involvement. It has been reported in newly diagnosed type 1 diabetes, in poorly controlled type 2 diabetes following the initiation of insulin therapy, and in underweight patients on large doses of insulin. The oedema occurs shortly after the initiation of intensive insulin therapy. We describe two adolescent girls with newly diagnosed type 1 diabetes, who presented with oedema of the lower extremities approximately one week after the initiation of insulin treatment; other causes of oedema were excluded. Spontaneous recovery was observed in both patients. Conflict of interest:None declared. PMID:21274337
Computer-assisted initial diagnosis of rare diseases

PubMed Central

Piñol, Marc; Vilaplana, Jordi; Teixidó, Ivan; Cruz, Joaquim; Comas, Jorge; Vilaprinyo, Ester; Sorribas, Albert

2016-01-01

Introduction. Most documented rare diseases have genetic origin. Because of their low individual frequency, an initial diagnosis based on phenotypic symptoms is not always easy, as practitioners might never have been exposed to patients suffering from the relevant disease. It is thus important to develop tools that facilitate symptom-based initial diagnosis of rare diseases by clinicians. In this work we aimed at developing a computational approach to aid in that initial diagnosis. We also aimed at implementing this approach in a user friendly web prototype. We call this tool Rare Disease Discovery. Finally, we also aimed at testing the performance of the prototype. Methods. Rare Disease Discovery uses the publicly available ORPHANET data set of association between rare diseases and their symptoms to automatically predict the most likely rare diseases based on a patient’s symptoms. We apply the method to retrospectively diagnose a cohort of 187 rare disease patients with confirmed diagnosis. Subsequently we test the precision, sensitivity, and global performance of the system under different scenarios by running large scale Monte Carlo simulations. All settings account for situations where absent and/or unrelated symptoms are considered in the diagnosis. Results. We find that this expert system has high diagnostic precision (≥80%) and sensitivity (≥99%), and is robust to both absent and unrelated symptoms. Discussion. The Rare Disease Discovery prediction engine appears to provide a fast and robust method for initial assisted differential diagnosis of rare diseases. We coupled this engine with a user-friendly web interface and it can be freely accessed at http://disease-discovery.udl.cat/. The code and most current database for the whole project can be downloaded from https://github.com/Wrrzag/DiseaseDiscovery/tree/no_classifiers. PMID:27547534
History of the Rare Cancer Network and Past Research

PubMed Central

Mirimanoff, René-Olivier; Ozsahin, Mahmut; Thariat, Juliette; Ozyar, Enis; Schick, Ulrike; Pehlivan, Berrin; Krengli, Marco; Pellanda, Alessandra Franzetti; Vees, Hansjörg; Cai, Ling; Scandolaro, Luciano; Belkacemi, Yazid; Villà, Salvador; Igdem, Sefik; Lutsyk, Myroslav; Miller, Robert C.

2014-01-01

Approximately, twenty years ago, the Rare Cancer Network (RCN) was formed in Lausanne, Switzerland, to support the study of rare malignancies. The RCN has grown over the years and now includes 130 investigators from twenty-four nations on six continents. The network held its first international symposium in Nice, France, on March 21-22, 2014. The proceedings of that meeting are presented in two companion papers. This manuscript reviews the history of the growth of the RCN and contains the abstracts of fourteen oral presentations made at the meeting of prior RCN studies. From 1993 to 2014, 74 RCN studies have been initiated, of which 54 were completed, 10 are in progress or under analysis, and 9 were stopped due to poor accrual. Forty-four peer reviewed publications have been written on behalf of the RCN. PMID:25276325
A rare case of imatinib-induced erythroderma

PubMed Central

Verma, Rajesh; Vasudevan, Biju; Pragasam, Vijendran; Neema, Shekhar

2013-01-01

Imatinib, a specific tyrosine kinase inhibitor is a newer anticancer agent, which has shown excellent efficacy in managing chronic myeloid leukemia. It is generally well tolerated with few side effects. Most commonly reported adverse events are maculopapular eruptions and periorbital edema. Severe adverse reactions are seen in 5% of patients. Exfoliative dermatitis has been very rarely reported with this drug. We report a case of a 52-year-old male who initially presented with a maculopapular rash and developed erythroderma on continuation of the drug. PMID:24347779
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.
Progressive Posterior Lenticonus in a Patient with Alport Syndrome

PubMed Central

Al-Mahmood, Ammar M.; Al-Swailem, Samar A.; Al-Khalaf, Abdulrahman; Al-Binali, Ghada Y.

2010-01-01

We report a rare case of Alport syndrome with progressive posterior lenticonus. A 24-year-old male presented to our tertiary eye care center with history of poor vision. At initial presentation, the patient had bilateral anterior lenticonus, posterior subcapsular cataract, and renal failure. The patient was diagnosed with Alport syndrome based on a positive family history of the disease and clinical findings. Further examination revealed progressive posterior lenticonus that was not present initially. The presence of such finding is important because it influences the surgical approach to avoid complications during cataract surgery. PMID:21180444

Status cataplecticus as initial presentation of late onset narcolepsy.

PubMed

Panda, Samhita

2014-02-15

Narcolepsy, one of the important causes of hypersomnia, is an under diagnosed sleep disorder. It has a bimodal age of onset around 15 and 35 years. It is characterized by the tetrad of excessive daytime sleepiness, cataplexy, hypnagogic/ hypnopompic hallucinations, and sleep paralysis. Cataplexy is by far the most predictive feature of narcolepsy. Status cataplecticus is the occurrence of cataplexy repeatedly for hours or days, a rare presentation of narcolepsy. This report describes an elderly gentleman with late onset narcolepsy in the sixth decade of life presenting with initial and chief symptom of status cataplecticus.
Sonographic Findings in Necrotizing Fasciitis: Two Ends of the Spectrum.

PubMed

Shyy, William; Knight, Roneesha S; Goldstein, Ruth; Isaacs, Eric D; Teismann, Nathan A

2016-10-01

Necrotizing fasciitis is a rare but serious disease, and early diagnosis is essential to reducing its substantial morbidity and mortality. The 2 cases presented show that the key clinical and radiographic features of necrotizing fasciitis exist along a continuum of severity at initial presentation; thus, this diagnosis should not be prematurely ruled out in cases that do not show the dramatic features familiar to most clinicians. Although computed tomography and magnetic resonance imaging are considered the most effective imaging modalities, the cases described here illustrate how sonography should be recommended as an initial imaging test to make a rapid diagnosis and initiate therapy.
Addison disease presenting with acute neurologic deterioration: a rare presentation yields new lessons from old observations in primary adrenal failure.

PubMed

Myers, Kenneth A; Kline, Gregory A

2010-01-01

To report a rare case of Addison disease presenting with acute neurologic deterioration, and to discuss previous reports and illustrative clinical lessons drawn from the case. We detail the clinical presentation and sequence of events leading to diagnosis of Addison disease in a 20-year-old man whose initial symptoms were those of acute neurologic deterioration. A 20-year-old man presented with acute, rapid neurologic deterioration. The patient required intubation, but his condition responded very well to mannitol and dexamethasone. Head computed tomography showed a fourth ventricle reduced in size and basal cistern effacement, changes consistent with mild cerebral edema. Primary adrenal insufficiency was diagnosed after a low morning cortisol concentration prompted a corticotropin-stimulation test and serum aldosterone measurement (undetectable). The diagnosis was almost missed because of suspected confounders of dexamethasone and etomidate use. Subsequently, the patient tested positive for anti-21- hydroxylase antibodies. Cerebral edema rarely occurs with Addison disease and is most likely secondary to hyponatremia. Diagnosis in such cases may be complicated by resuscitative therapies; however, low cortisol levels should always be thoroughly investigated. This patient's presentation was also unique in that he maintained a normal electrolyte profile despite hypoaldosteronism, a phenomenon that may be explained by enhanced mineralocorticoid activity of exogenous cortisol. The diagnosis of primary adrenal insufficiency may not be suspected in the absence of classic hyperpigmentation and hyperkalemia, but should remain in the differential diagnosis of acute confusion. While the use of dexamethasone and etomidate in initial resuscitation can transiently suppress adrenal function, any unusually low cortisol level merits thorough investigation.
From idiopathic diabetes insipidus to neurodegenerative Langerhans cell histiocytosis--an unusual presentation and progression of disease.

PubMed

Hayward, Rachel M; Nicolin, Gary; Kennedy, Charles; Joy, Harriet; Davies, Justin H

2011-01-01

Diabetes insipidus (DI) is rare in childhood and has a wide-ranging aetiology including the involvement of uncontrolled proliferation of dendritic cells in the hypothalamic-pituitary axis, characteristic of Langerhans cell histiocytosis (LCH). DI may manifest as a sequela of multisystem LCH disease involving skin, bone, liver, spleen and lymph nodes. In very rare cases patients diagnosed with LCH exhibit neurodegenerative changes, such as severe ataxia, tremor, dysarthria and intellectual impairment. We report a 2 1/2-year-old boy who presented initially with apparent idiopathic DI, developed anterior pituitary hormone deficiency and progressive neurological deterioration secondary to neurodegenerative LCH.
Quadriplegia due to celiac crisis with hypokalemia as initial presentation of celiac disease: a case report.

PubMed

Bhattacharya, Malobika; Kapoor, Seema

2012-02-01

Celiac crisis is a rare, life-threatening complication of celiac disease characterized by worsening of clinical symptoms, multiple metabolic derangements and shock. We report an 8-year-old girl with previously undiagnosed celiac disease who presented with flaccid quadriparesis secondary to severe hypokalemia associated with celiac crisis. Diagnosis was expedited by an elevated anti-tissue transglutaminase antibody titer. The patient improved with correction of hypokalemia, corticosteroids and gluten-free diet. In tropical countries such as India, where both acute flaccid paresis and diarrhea are usually of infective etiologies, this rare clinical condition should also be considered in the differential diagnosis of both.
Moyamoya disease associated with asymptomatic mosaic Turner syndrome: a rare cause of hemorrhagic stroke.

PubMed

Manjila, Sunil; Miller, Benjamin R; Rao-Frisch, Anitha; Otvos, Balint; Mitchell, Anna; Bambakidis, Nicholas C; De Georgia, Michael A

2014-01-01

Moyamoya disease is a rare cerebrovascular anomaly involving the intracranial carotid arteries that can present clinically with either ischemic or hemorrhagic disease. Moyamoya syndrome, indistinguishable from moyamoya disease at presentation, is associated with multiple clinical conditions including neurofibromatosis type 1, autoimmune disease, prior radiation therapy, Down syndrome, and Turner syndrome. We present the first reported case of an adult patient with previously unrecognized mosaic Turner syndrome with acute subarachnoid and intracerebral hemorrhage as the initial manifestation of moyamoya syndrome. A 52-year-old woman was admitted with a subarachnoid hemorrhage with associated flame-shaped intracerebral hemorrhage in the left frontal lobe. Physical examination revealed short stature, pectus excavatum, small fingers, micrognathia, and mild facial dysmorphism. Cerebral angiography showed features consistent with bilateral moyamoya disease, aberrant intrathoracic vessels, and an unruptured 4-mm right superior hypophyseal aneurysm. Genetic analysis confirmed a diagnosis of mosaic Turner syndrome. Our case report is the first documented presentation of adult moyamoya syndrome with subarachnoid and intracerebral hemorrhage as the initial presentation of mosaic Turner syndrome. It illustrates the utility of genetic evaluation in patients with cerebrovascular disease and dysmorphism. Copyright © 2014 National Stroke Association. Published by Elsevier Inc. All rights reserved.
A rare cause of respiratory distress and edema in neonate: Panhypopituitarism.

PubMed

Dursun, Fatma; Kirmizibekmez, Heves; Metin, Fazilet

2017-01-01

Clinical presentation of hypopituitarism may be variable in the neonate. Symptoms are generally nonspecific, ranging from absent to severe, and even life-threatening, due to adrenocorticotrophic hormone deficiency. Presently described is a case of unexplained respiratory distress and edema in a neonate. Initial screening revealed panhypopituitarism. Respiratory distress improved after replacement treatment with hydrocortisone and thyroxine.
[Acute myocardial infarction as Eosinophilic granulomatosis with polyangiitis (formerly Churg Strauss syndrome) initial presentation].

PubMed

Sulaiman, Wahinuddin; Seung, Ong Ping; Noor, Sabariah Mohd

2014-01-01

Eosinophilic granulomatosis with polyangiitis is a rare primary vasculitic disease characterized by hypereosinophilia, late onset asthma and extravascular eosinophil granulomas. We report a case presented initially with acute myocardial infarction which later only proceed with asthma, skin manifestations and peripheral neuropathy. Laboratory parameters showed hypereosinohpilia with negative perinuclear pattern of antineutrophil cytoplasmic autoantibodies (p-ANCA). Skin biopsy showed leucocytoclastic vasculitis with eosinophilic infiltration while coronary angiography was normal. The patient's symptoms improved with IV methylprednisolone, pulse cyclophosphamide and azathioprine. Copyright © 2014 Elsevier Editora Ltda. All rights reserved.
Ruptured superior gluteal artery pseudoaneurysm with hemorrhagic shock: Case report.

PubMed

Corbacioglu, Kerem Seref; Aksel, Gokhan; Yildiz, Altan

2016-03-01

Pseudoaneurysm of the superior gluteal artery (SGA) is very rare and the most common causes are blunt or penetrating pelvic traumas. Although pseudoaneurysm can be asymptomatic at the time of initial trauma, it can be symptomatic weeks, months, even years after initial trauma. We present a case of a ruptured superior gluteal artery pseudoaneurysm with hemorrhagic shock twenty days after a bomb injury in the Syria civil war. In addition, we review the anatomy of the SGA, clinical presentation and pitfalls of pseudoaneurysm, and imaging and treatment options.
Acute hematogenous osteomyelitis of the odontoid process in a child with torticollis.

PubMed

Nolting, Laura; Singer, Jonathan; Hackett, Russell; Kleiner, Laurence

2010-09-01

Acute vertebral osteomyelitis is rare in the pediatric population. Its presentation may be subtle and without constitutional manifestations. We present a case of osteomyelitis of the odontoid process. The disease was not considered in the initial evaluation of an afebrile, nontoxic child who presented for evaluation of neck stiffness. Although there was a delay in diagnosis and treatment, the outcome was favorable.
Lost in Translation

ERIC Educational Resources Information Center

Thompson, Jane

2004-01-01

A conference event is mediated through keynote speeches, power point presentations, professional role-playing and the turgid language of policy agendas, initiatives, benchmarks and outputs. Serious human concerns rarely surface in the orchestrated and anodyne arena of professional conference-going. The ready recourse to ritual and procedure means…
The Infection Returns: A Case of Pulmonary Sporotrichosis Relapse after Chemotherapy

PubMed Central

2018-01-01

Background Pulmonary sporotrichosis is a rare disease caused by a dimorphic fungus, Sporothrix schenckii. It is rarely found in association with malignancy. We present a case of pulmonary sporotrichosis recurrence after chemotherapy. Case Presentation A 44-year-old man, treated for pulmonary sporotrichosis in the past, presented with dysphagia and was found to have squamous cell carcinoma of the esophagus. After undergoing chemotherapy, extensive cavitary lesions were observed on thoracic computed tomography scan. A bronchoalveolar lavage revealed the presence of Sporothrix schenckii sensu lato. Despite treatment with itraconazole, he eventually required a left pneumonectomy for progressive destructive cavitary lesions involving the left lung. Conclusion This case highlights the importance of considering past fungal infections, albeit cured, in patients initiating immunosuppressive therapy. PMID:29559998
Rare hereditary cause of chronic pancreatitis in a young male: SPINK1 mutation

PubMed Central

Patel, Janaki; Madan, Arina; Gammon, Amanda; Sossenheimer, Michael; Samadder, Niloy Jewel

2017-01-01

Hereditary chronic pancreatitis associated with a mutation in the serine protease inhibitor, Kazal Type-1 (SPINK-1 gene) is extremely rare. The SPINK1 mutation results in trypsinogen activation which predisposes to chronic pancreatitis predominately when combined with CFTR gene mutations. It presents as either chronic or recurrent acute pancreatitis. Symptom control and management of complications is important. Active surveillance with cross-sectional imaging for pancreatic malignancy in individuals with hereditary pancreatitis is advocated due to individuals being high risk. We present an unusual case of a young male who initially presented with renal colic and was incidentally diagnosed with severe chronic pancreatitis on abdominal imaging, with genetic testing confirming a homozygous SPINK1 mutation. PMID:29515728
Rare hereditary cause of chronic pancreatitis in a young male: SPINK1 mutation.

PubMed

Patel, Janaki; Madan, Arina; Gammon, Amanda; Sossenheimer, Michael; Samadder, Niloy Jewel

2017-01-01

Hereditary chronic pancreatitis associated with a mutation in the serine protease inhibitor, Kazal Type-1 (SPINK-1 gene) is extremely rare. The SPINK1 mutation results in trypsinogen activation which predisposes to chronic pancreatitis predominately when combined with CFTR gene mutations. It presents as either chronic or recurrent acute pancreatitis. Symptom control and management of complications is important. Active surveillance with cross-sectional imaging for pancreatic malignancy in individuals with hereditary pancreatitis is advocated due to individuals being high risk. We present an unusual case of a young male who initially presented with renal colic and was incidentally diagnosed with severe chronic pancreatitis on abdominal imaging, with genetic testing confirming a homozygous SPINK1 mutation.
Resolution of hypothyroidism after correction of somatovisceral reflex dysfunction by refusion of the cervical spine.

PubMed

Berkowitz, Murray R

2015-01-01

Psychosis is a rare initial presentation of new-onset hypothyroidism. The author describes the case of a 29-year-old woman who presented with psychosis caused by hypothyroidism, or myxedema madness. Although the patient's psychosis resolved after standard monotherapy using levothyroxine sodium, her hypothyroidism persisted. Imaging of the patient's cervical spine showed that previous C5-C6 and C6-C7 fusions had failed. The failed fusions were corrected, and the patient's hypothyroidism resolved, suggesting that the somatovisceral reflex was the cause of the patient's hypothyroidism. Although somatovisceral reflex dysfunctions are rare, physicians should consider them as potential underlying causes of their patients' presenting medical conditions. © 2015 The American Osteopathic Association.
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.
Recognition of unusual presentation of natural killer cell leukemia.

PubMed

Gardiner, C M; Reen, D J; O'Meara, A

1995-10-01

Expansion of the natural killer (NK) subset of lymphocytes represents a rare leukemia phenotype with variations in clinical presentation, morphology, surface phenotype, and effector function. This paper reports on a 5-year-old male patient who had an unusual presentation of an NK cell leukemia that was initially diagnosed as neuroblastoma. A bone marrow (BM) aspirate showed clumps of undifferentiated cells with the following phenotype: CD56bright+, CD33dim+, CD45-, CD2-, CD19-, CD16-, and CD57-. Cytochemistry was noncontributory. The patient, having failed to respond to conventional neuroblastoma chemotherapy, was subsequently diagnosed as having NK cell leukemia based on functional in vitro assays. The patient responded to acute lymphoblastic leukemia (ALL) chemotherapy but relapsed 4 weeks into treatment and eventually died 25 weeks after initial presentation. The cell surface phenotype observed is consistent with a rare NK cell subset, the biology of which has not been well defined. Freshly isolated BM cells killed K562 cells in a conventional 51Cr-release assay. Both interleukin-2 (IL-2) and interferon-alpha (IFN-alpha) induced LAK activity against the Daudi cell line. IL-2 induced proliferation of the leukemic cells. TNF-alpha, IFN-gamma, IL-6, IL-1ra, and TGF-beta levels were assessed and found to be concentrated in BM, in contrast to plasma samples. TNF-alpha was present at a high concentration in BM (150.9 pg/ml), probably a reflection of the associated disease pathology of severe bone pain and pyrexia. In summary, this paper details clinical and laboratory investigations of a leukemia of a rare NK cell subset.
Hyperkalemia masked by pseudo-stemi infarct pattern and cardiac arrest.

PubMed

Peerbhai, Shareez; Masha, Luke; DaSilva-DeAbreu, Adrian; Dhoble, Abhijeet

2017-12-01

Hyperkalemia is a common electrolyte abnormality and has well-recognized early electrocardiographic manifestations including PR prolongation and symmetric T wave peaking. With severe increase in serum potassium, dysrhythmias and atrioventricular and bundle branch blocks can be seen on electrocardiogram. Although cardiac arrest is a worrisome consequence of untreated hyperkalemia, rarely does hyperkalemia electrocardiographically manifest as acute ischemia. We present a case of acute renal failure complicated by malignant hyperkalemia and eventual ventricular fibrillation cardiac arrest. Recognition of this disorder was delayed secondary to an initial ECG pattern suggesting an acute ST segment elevation myocardial infarction (STEMI). Emergent coronary angiography performed showed no evidence of coronary artery disease. Pseudo-STEMI patterns are rarely seen in association with acute hyperkalemia and are most commonly described with patient without acute cardiac symptomatology. This is the first such case presenting concurrently with cardiac arrest. A brief review of this rare pseudo-infarct pattern is also given.
A rare case of fungal endocarditis caused by Candida glabrata after completion of antibiotic therapy for Streptococcus endocarditis.

PubMed

Tsugu, Toshimitsu; Murata, Mitsushige; Iwanaga, Shiro; Kitamura, Yohei; Inoue, Soushin; Fukuda, Keiichi

2015-04-01

We present the rare case of a 76-year-old female with infective endocarditis (IE) caused by Candida glabrata. Immediately before developing the present infection, she developed IE with vegetation on the mitral annular calcification, which was caused by Streptococcus mitis and successfully treated with penicillin-G and gentamicin. However, her fever recurred, and she developed disseminated intravascular coagulation. Blood culture revealed C. glabrata, and echocardiography revealed new vegetation on the mitral valve. After 4 weeks of treatment with micafungin, prosthetic valve replacement was performed, followed by additional administration of micafungin for 4 weeks (total of 8 weeks). No relapse at 9 months after surgery has been observed. C. glabrata endocarditis is extremely rare and difficult to manage. Our case and review of past reported cases suggest that early diagnosis and initiation of treatment contribute to good prognosis of C. glabrata endocarditis.
Malignant Hidradenocarcinoma in the Lower Extremity: A Case Report of a Rare Tumor.

PubMed

Kane, Brendan; Adler, Evan; Bhandari, Tarun; Rose, Michael; DiGuglielmo, Nicola; Sun, Xiu

Malignant hidradenocarcinomas are rare soft tissue tumors of sweat gland origin. We present the case of a soft tissue, fungating tumor of 15 years' duration of the medial ankle in an 85-year-old male that exhibited malignant features clinically and radiographically. Subsequent punch biopsy revealed a diagnosis of malignant hidradenocarcinoma. Given the risk of recurrence and the poor radiation and chemotherapy options, the patient initially decided to leave the lesion untreated. However, he soon developed lower extremity cellulitis from the exposed lesion and decided to have the tumor excised, eliminating the source of the infection. In the present case study, we discuss the etiology, clinical and radiographic characteristics, and treatment options for this rare lesion. At the 18-month follow-up visit, he had had no recurrence of the lesion. Copyright © 2017 The American College of Foot and Ankle Surgeons. Published by Elsevier Inc. All rights reserved.

Origin of planetary primordial rare gas - The possible role of adsorption.

NASA Technical Reports Server (NTRS)

Fanale, F. P.; Cannon, W. A.

1972-01-01

The degree of physical adsorption of Ne, Ar, Kr, and Xe on pulverized samples of the Allende meteorite at 113 K has been measured. The observed pattern of equilibrium enrichment of heavy rare gases over light on the pulverized meteorite surfaces relative to the gas phase is similar to the enrichment pattern exhibited by planetary primordial rare gas when compared with the composition of solar rare gas. Results indicate that, at 113 K, a total nebular pressure of from .01 to .001 atm would be required to explain the Ar, Kr, and Xe abundances in carbonaceous chondrites with an adsorption mechanism. This pressure estimate is compatible with the range of possible nebular pressures suggested by astrophysical arguments. However, the subsequent mechanism by which initially adsorbed gas might have been transferred into the interiors of grains cannot be identified at present.
Fulminate Hepatic Failure as an Initial Presentation of Non-Hodgkin Lymphoma: A Case Report

PubMed Central

Ahmadi, Bizhan; Shafieipour, Sara; Akhavan Rezayat, Kambiz

2014-01-01

Viral hepatitis and toxins comprise most common causes of fulminate hepatic failure that are often diagnosed with standard laboratory tests. Herein we discuss a rare, difficult to diagnosis etiology of acute liver failure (ALF). A 62-year-old man presented with a two-week history of fever and fatigue. At four days before admission he became lethargic. His past medical and drug histories were unremarkable. Physical examination revealed generalized jaundice, fever and loss of consciousness. Laboratory tests showed elevated liver transaminases with direct hyper-bilirubinemia. Abdominal ultrasonography and CT scan showed hepatosplenomegaly and para-aortic abdominal lymphadenopathy. A further work-up included liver biopsy. The histopathology and imunohistochemistry was compatible with diffuse large B-cell lymphoma. He underwent high dose glucocorticoid therapy but his condition deteriorated rapidly and he died eight days after admission. ALF as an initial manifestation of malignant hepatic infiltration is extremely rare yet should be considered in all patients with unknown hepatic failure that are highly suspicious for malignant neoplasm. PMID:24872870
Long-term follow-up of combined pituitary hormone deficiency in two siblings with a Prophet of Pit-1 gene mutation.

PubMed

Georgopoulos, Neoklis A; Katsikis, Ilias; Giamalis, Petros; Koika, Vasiliki; Adonakis, George; Kourtis, Anargyros; Kourounis, George; Panidis, Dimitrios

2006-12-01

Combined pituitary hormone deficiency (CPHD) is a rare disorder resulting from an impaired pituitary function due to different causes, characterized by impaired secretion of growth hormone (GH) and one or more of the other anterior pituitary hormones. To date, 16 distinct human Prophet of Pit-1 (Prop1) gene mutations have been identified in patients with CPHD, inducing a phenotype involving GH, follicle-stimulating hormone (FSH), luteinizing hormone (LH), prolactin and thyroid-stimulating hormone (TSH), and rarely adrenocorticotropic hormone, deficiency. Herein we present two siblings of different sexes from a family with parental consanguinity presenting the 301-302delAG mutation in the Prop1 gene. The female presented failure of growth from the age of 6 years and was treated for 10 years with GH, ending in a final height (standard deviation score) of -0.28. TSH deficiency was manifested after the initiation of GH and was treated with thyroxine while puberty was initiated with conjugated estrogens. The male presented TSH deficiency since childhood, treated with thyroxine, and growth failure at the age of 14 years, treated for a period of 2 years with GH. Puberty was initiated with increasing doses of testosterone, while human chorionic gonadotropin was added in order to achieve increased testicular volume. In conclusion, these two siblings of different sexes with CPHD carrying the 301-302delAG mutation in the Prop1 gene presented a variable phenotype characterized by GH, TSH, LH and FSH deficiency.
Myositis as the initial presentation of panarteritis nodosa.

PubMed

Calvo, Romina; Negri, Melina; Ortiz, Alberto; Roverano, Susana; Paira, Sergio

2017-07-26

A 47-year-old man presented with weight loss, bilateral calf pain, fever, hypertension, orchitis and oligoarthritis. Lab tests: anemia and elevated muscle enzymes. Resonance magnetic imaging: hyperintensity in gastrocnemius muscles (myositis). Histologic exam of the muscles: inflammatory infiltrate with atrophy and perifascicular regeneration. methylprednisone (bolus) and cyclophosphamide. Muscle pain and swelling and difficulty in walking are common in panarteritis nodosa (PAN), whereas histologically demonstrated myositis is not. Even more rare is myositis as the initial presentation of this vasculitis. Copyright © 2017 Elsevier España, S.L.U. and Sociedad Española de Reumatología y Colegio Mexicano de Reumatología. All rights reserved.
A rare cause of respiratory distress and edema in neonate: Panhypopituitarism

PubMed Central

Dursun, Fatma; Kirmizibekmez, Heves; Metin, Fazilet

2017-01-01

Clinical presentation of hypopituitarism may be variable in the neonate. Symptoms are generally nonspecific, ranging from absent to severe, and even life-threatening, due to adrenocorticotrophic hormone deficiency. Presently described is a case of unexplained respiratory distress and edema in a neonate. Initial screening revealed panhypopituitarism. Respiratory distress improved after replacement treatment with hydrocortisone and thyroxine. PMID:28971179
Pyostomatitis vegetans. Clinical marker of ulcerative colitis.

PubMed

Lopez-Jornet, P; Gomez-Garcia, F; Camacho-Alonso, F

2012-03-01

Pyodermatitis-pyostomatitis vegetans (PV), a rare disorder of the skin and oral mucosa, is considered a highly specific marker for inflammatory bowel disease, especially ulcerative colitis. We have presented the case of a patient with PV. This report emphasizes the relationship of PV to inflammatory bowel disease and the importance of the oral lesions as initial presenting signs of systemic disease or activity.
Serratia marcescens Necrotizing Fasciitis Presenting as Bilateral Breast Necrosis

PubMed Central

Rehman, Tayyab; Moore, Thomas A.

2012-01-01

Serratia marcescens is an extremely rare cause of necrotizing fasciitis. We report the first case of necrotizing fasciitis of the chest wall due to infection with S. marcescens that initially manifested as bilateral breast necrosis. The patient had a fulminant course leading to death within 72 h of presentation. Literature pertinent to S. marcescens-mediated necrotizing fasciitis is also reviewed. PMID:22837315
Robot-assisted laparoscopic reconstruction of retrocaval ureter: description and video of technique.

PubMed

LeRoy, Timothy J; Thiel, David D; Igel, Todd C

2011-05-01

Ureteral obstruction secondary to retrocaval ureter is rarely reported in the urologic literature. Symptomatic retrocaval ureters usually present in the 3rd and 4th decade of life. Standard treatment involves ureteroureterostomy approximating the ureter anterior to the vena cava. We describe the initial presentation, imaging, port placement, and operative technique including video presentation of a robot-assisted laparoscopic repair of a retrocaval ureter.
A Type-II First Branchial Cleft Anomaly Presenting as a Post-Auricular Salivary Fistula: A Rare Presentation.

PubMed

Jain, S; Deshmukh, Pt; Gupta, M; Shukla, S

2014-01-01

First branchial cleft anomalies are rare with the average age of presentation as 19 years. There is an average delay of 3.5 years between initial presentation and adequate treatment due to diagnostic dilemma. A very rare variant of first branchial cleft anomaly presenting as a post-auricular salivary fistula is reported. A 12-year-old girl presented with a history of intermittent watery discharge, more so at the time of meals from a right post-auricular opening for last 3 years. Computed tomography sialography revealed a fistulous tract connecting the sub segmental duct of the parotid gland extending along the pre-tragus region in subcutaneous plane up to mastoid tip after passing inferior to external auditory canal. Superficial parotidectomy with identification of facial nerve branches was carried out for excision of the tract. Histopathology revealed sinus tract comprising of ectodermal components and acini of the parotid gland. We classified our case into work's type-2 based on anatomical location at an angle of mandible, its relationship to parotid gland and facial nerve and previous history of ear discharge. To the best of our knowledge, this is the first case of its type to be reported.
A Type-II First Branchial Cleft Anomaly Presenting as a Post-Auricular Salivary Fistula: A Rare Presentation

PubMed Central

Jain, S; Deshmukh, PT; Gupta, M; Shukla, S

2014-01-01

First branchial cleft anomalies are rare with the average age of presentation as 19 years. There is an average delay of 3.5 years between initial presentation and adequate treatment due to diagnostic dilemma. A very rare variant of first branchial cleft anomaly presenting as a post-auricular salivary fistula is reported. A 12-year-old girl presented with a history of intermittent watery discharge, more so at the time of meals from a right post-auricular opening for last 3 years. Computed tomography sialography revealed a fistulous tract connecting the sub segmental duct of the parotid gland extending along the pre-tragus region in subcutaneous plane up to mastoid tip after passing inferior to external auditory canal. Superficial parotidectomy with identification of facial nerve branches was carried out for excision of the tract. Histopathology revealed sinus tract comprising of ectodermal components and acini of the parotid gland. We classified our case into work's type-2 based on anatomical location at an angle of mandible, its relationship to parotid gland and facial nerve and previous history of ear discharge. To the best of our knowledge, this is the first case of its type to be reported. PMID:24669347
A methodology for a minimum data set for rare diseases to support national centers of excellence for healthcare and research

PubMed Central

Choquet, Rémy; Maaroufi, Meriem; de Carrara, Albane; Messiaen, Claude; Luigi, Emmanuel; Landais, Paul

2015-01-01

Background Although rare disease patients make up approximately 6–8% of all patients in Europe, it is often difficult to find the necessary expertise for diagnosis and care and the patient numbers needed for rare disease research. The second French National Plan for Rare Diseases highlighted the necessity for better care coordination and epidemiology for rare diseases. A clinical data standard for normalization and exchange of rare disease patient data was proposed. The original methodology used to build the French national minimum data set (F-MDS-RD) common to the 131 expert rare disease centers is presented. Methods To encourage consensus at a national level for homogeneous data collection at the point of care for rare disease patients, we first identified four national expert groups. We reviewed the scientific literature for rare disease common data elements (CDEs) in order to build the first version of the F-MDS-RD. The French rare disease expert centers validated the data elements (DEs). The resulting F-MDS-RD was reviewed and approved by the National Plan Strategic Committee. It was then represented in an HL7 electronic format to maximize interoperability with electronic health records. Results The F-MDS-RD is composed of 58 DEs in six categories: patient, family history, encounter, condition, medication, and questionnaire. It is HL7 compatible and can use various ontologies for diagnosis or sign encoding. The F-MDS-RD was aligned with other CDE initiatives for rare diseases, thus facilitating potential interconnections between rare disease registries. Conclusions The French F-MDS-RD was defined through national consensus. It can foster better care coordination and facilitate determining rare disease patients’ eligibility for research studies, trials, or cohorts. Since other countries will need to develop their own standards for rare disease data collection, they might benefit from the methods presented here. PMID:25038198
Hypokalemic Periodic Paralysis: a case report and review of the literature

PubMed Central

Soule, Benjamin R; Simone, Nicole L

2008-01-01

Hypokalemic Periodic Paralysis is one form of Periodic Paralysis, a rare group of disorders that can cause of sudden onset weakness. A case of a 29 year old male is presented here. The patient presented with sudden onset paralysis of his extremities. Laboratory evaluation revealed a markedly low potassium level. The patient's paralysis resolved upon repletion of his low potassium and he was discharged with no neurologic deficits. An association with thyroid disease is well established and further workup revealed Grave's disease in this patient. Although rare, Periodic Paralysis must differentiated from other causes of weakness and paralysis so that the proper treatment can be initiated quickly. PMID:18939979
Refractory sciatica could be a sign of malignancy: A unique case presentation.

PubMed

Arunachalam, Karuppiah

2016-01-04

t Renal cell carcinoma is one of the highly aggressive tumors and notorious for late presentations. It is associated with high morbidity and mortality. Renal cell carcinoma is known for rare metastatic sites. In clinical practice, it is often important not to anchor to a particular diagnosis but rather revisit and revaluate entire history and clinical examination. We describe a case of metastatic renal cell carcinoma that was initially treated as sciatica and later found to have advanced debilitating malignancy. Internal medicine physicians should be able to recognize one of the rare metastatic sites of renal cell carcinoma and understand the importance of imaging studies if patient has persisting sciatica symptoms without improvement.
Streptococcus anginosus endocarditis and multiple liver abscesses in a splenectomised patient.

PubMed

Finn, Talya; Schattner, Ami; Dubin, Ina; Cohen, Regev

2018-04-27

An unusual case of infective endocarditis and concurrent multiple liver abscesses both caused by Streptococcus anginosus in a splenectomised patient is reported. The microorganism is a very rare cause of endocarditis and its presentation with multiple liver abscesses is highly unusual. It was initially misdiagnosed as Streptococcus sanguinis and issues relating to the different clinical presentations of S. anginosus including the rare cases of endocarditis, the role of the patient's splenectomy and problems that may contribute to its potential laboratory misidentifications are discussed. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.
Ocular Lyme borreliosis as a rare presentation of unilateral vision loss.

PubMed

Patterson-Fortin, Jeffrey; Kohli, Anita; Suarez, Maria J; Miller, P Elliott

2016-04-25

Ocular Lyme borreliosis is a rare manifestation of Lyme disease. We describe a case of an 80-year-old woman who presented with a 1-month history of unilateral painless central vision loss. Based on a temporal artery biopsy, she was initially diagnosed with giant cell arteritis and treated with a 3-day course of high-dose intravenous steroids. A more detailed history uncovered multiple previous treatments for Lyme disease and residence in an endemic Lyme area. The patient was subsequently diagnosed with ocular Lyme borreliosis and treated with intravenous antibiotics. After 5 weeks of treatment, unilateral vision loss did not progress and optic disc oedema resolved. 2016 BMJ Publishing Group Ltd.
Diffuse alveolar hemorrhage due to metastatic angiosarcoma of the lung: A case report

PubMed Central

PAN, ZHIJIE; AN, ZHOU; LI, YANYUAN; ZHOU, JIANYING

2015-01-01

Angiosarcoma is a rare, heterogeneous malignant tumor that derives from endothelial cells, and it has aggressive characteristics with a marked tendency for distant metastasis. Diffuse alveolar hemorrhage (DAH) is a catastrophic clinical syndrome, however, it is rare as the presentation of pulmonary angiosarcoma. To increase awareness with regard to angiosarcoma and DAH, the current study presents a case of angiosarcoma that originated from the subcutaneous soft tissue of the mastoid process, but was subject to a delayed diagnosis and rapid invasion into the brain and lung. The metastatic angiosarcoma of the lung presented with DAH as the initial manifestation. The pathological examination of a biopsy of the subcutaneous mass and pulmonary lesions confirmed the diagnosis of angiosarcoma. The patient succumbed to respiratory failure at 1 month post-diagnosis. PMID:26788222
A Rare Case of Phyllodes Tumor Metastasis to the Stomach Presenting as Anemia.

PubMed

Choi, Do Il; Chi, Ho Seok; Lee, Sang Ho; Kwon, Youngmee; Park, Seog Yun; Sim, Sung Hoon; Park, In Hae; Lee, Keun Seok

2017-07-01

Metastasis of a phyllodes tumor to the stomach is an extremely rare condition with important clinical implications. A 44-year-old woman was initially diagnosed with a phyllodes tumor in her right breast in 2008, and subsequently presented to an outpatient clinic with dizziness on December 16, 2013. We found that she had severe anemia (hemoglobin levels, 6.7 g/dL), and we quickly performed esophagogastroduodenoscopy to identify the cause. This procedure revealed large ulcerofungating masses with active bleeding in the stomach. Histopathological examination revealed that the masses were consistent with phyllodes tumor metastases. In patients with a metastatic phyllodes tumor presenting as anemia, gastric metastasis should be considered as one of the differential diagnoses because overlooking the possibility might have dire consequences if cytotoxic chemotherapy were administered.
Retroperitoneal Angiomatoid Fibrous Histiocytoma Presenting as a Recurrent Spontaneous Retroperitoneal Hemorrhage in a 9-Year-Old Boy.

PubMed

Slack, Jonathan C; Sanchez-Glanville, Carlos; Steele, MacGregor; Wong, Andrew L; Bründler, Marie-Anne

2018-05-01

Angiomatoid fibrous histiocytoma (AFH) is a rare soft tissue tumor that typically presents in children and young adults. Occurrence outside of the extremities and the head and neck region is exceedingly rare. We report the case of a 9-year-old boy who presented with recurrent retroperitoneal hemorrhage initially thought to be a manifestation of an underlying bleeding disorder. After comprehensive diagnostic work-up, including multiple negative biopsies, the patient underwent surgical resection of an extensively hemorrhagic intramuscular mass and to date remains well. Pathologic examination confirmed AFH with EWSR1 gene rearrangement. This first documented report of an AFH in a retroperitoneal location in a child highlights the diagnostic difficulties and clinical challenges of AFH arising in an atypical location.
Giant fibroadenoma presenting like fungating breast cancer in a Nigerian teenager.

PubMed

Arowolo, O A; Akinkuolie, A A; Adisa, A O; Obonna, G C; Olasode, B J

2013-03-01

Giant fibroadenoma of the breast is a rare benign breast tumour which seldom grows to a giant size, it is even rarer for this benign tumour to grow rapidly, ulcerate spontaneously and present like a fungating breast tumour in a way mimicking breast cancer. This is a presentation of a 14 year old premenarchal girl with a massive ulcerating and fungating left breast mass that was initially thought to be a fungating locally advanced breast carcinoma on clinical examination. Further examination of the morphology of the resected surgical specimen and histological examination confirmed it to be giant fibroadenoma of the breast. It was successfully managed by partial mastectomy and breast reconstruction with an excellent result and a high degree of patient satisfaction was achieved. Though a rare clinical entity benign breast tumour can present like a fungating breast cancer and this must be bore in mind especially in young adolescent patients presenting with ulcerating breast tumour.
Future Opportunities at the Facility for Rare Isotope Beams

NASA Astrophysics Data System (ADS)

Sherrill, Bradley M.

2018-05-01

This paper overviews the Facility for Rare Isotope Beams, FRIB, its construction status at the time of the conference, and its scientific program. FRIB is based on a high-power, heavy-ion, superconducting linear accelerator that is designed to deliver at least 400kW at 200 MeV/u for all stable-ion beams and produce a large fraction of all possible isotopes of the elements. A three-stage fragment separator will separate rare isotope beams for use in experiments at high energy or stopped and reaccelerated to up to 10MeV/u. The facility is expected to have first beams in 2021. An overview of the planned scientific program, experimental capabilities, and equipment initiatives are presented.

[Ocular myositis as a rare cause of vision loss].

PubMed

Rollnik, J D; Requadt, H

2017-04-01

Ocular myositis is a rare disease characterized by painful diplopia but loss of vision rarely occurs. The article reviews the literature focusing on the differential diagnostics. We report the case of an 80-year-old women suffering from slowly progressive loss of vision in the left eye. Diplopia was only present at the beginning and there was only moderate pain. Computed tomography and magnetic resonance imaging revealed a swelling of the left medial, lateral and inferior rectus muscles of the orbit leading to compression of the optic nerve in the orbital cone. An intravenous prednisolone stoss therapy (1000 mg per day for 3 consecutive days) was initiated, followed by oral medication of 100 mg per day then tapering over 10 weeks. Vision improved and no relapses were observed. Physicians should be aware of this rare disease to ensure quick diagnosis and treatment of ocular myositis.
Supporting Refugee Students in School Education in Greater Western Sydney

ERIC Educational Resources Information Center

Ferfolja, Tania; Vickers, Margaret

2010-01-01

Rarely do refugee students entering Australian schools possess the multiple forms of social, linguistic and cultural capital that are taken for granted in mainstream classrooms. While refugees of high-school age are assisted initially through Intensive English Centres (IECs), the transition from IECs to mainstream classrooms presents substantial…
A Case of Sporadic Creutzfeldt-Jakob Disease Presenting as Conversion Disorder.

PubMed

Yegya-Raman, Nikhil; Aziz, Rehan; Schneider, Daniel; Tobia, Anthony; Leitch, Megan; Nwobi, Onyi

2017-01-01

Background . Creutzfeldt-Jakob disease is a rare disorder of the central nervous system. Its initial diagnosis may be obscured by its variable presentation. This case report illustrates the complexity of diagnosing this disease early in the clinical course, especially when the initial symptoms may be psychiatric. It offers a brief review of the literature and reinforces a role for consultation psychiatry services. Methods . PUBMED/MEDLINE was searched using the terms "Creutzfeldt-Jakob disease", "psychiatric symptoms", "conversion disorder", "somatic symptom disorder", "functional movement disorder", and "functional neurologic disorder". Case . The patient was a 64-year-old woman with no prior psychiatric history who was initially diagnosed with conversion disorder and unspecified anxiety disorder but soon thereafter was discovered to have Creutzfeldt-Jakob disease. Discussion . This case highlights the central role of psychiatric symptoms in early presentations of Creutzfeldt-Jakob disease. Still, few other cases in the literature report functional neurological symptoms as an initial sign. The consultation psychiatrist must remain alert to changing clinical symptoms, especially with uncharacteristic disease presentations.
Localized nasopharyngeal amyloidosis mimicking malignancy: A case report.

PubMed

Kim, Jong Seung; Kwon, Sam Hyun

2017-07-01

Nasopharyngeal amyloidosis is a benign, slowly progressive disease that is characterized by extracellular eosinophilic deposition. We report a rare case of localized nasopharyngeal amyloidosis. The initial chief complaint of this patient was frequent epistaxis and right aural fullness. The initial diagnosis was nasopharyngeal tumor. There is no universally effective medical treatment for nasopharyngeal amyloidosis but surgery can be an option. We performed careful observation with regular follow-up by nasopharyngoscopy and radiologic study. The patient reported no further complaints at 1-year follow-up and the lesion from nasopharyngeal amyloidosis was still present. Although it is rare, nasopharyngeal amyloidosis should be considered in the differential diagnosis of epistaxis, nasal obstruction, and otitis media with effusion, which are the main symptoms of nasopharyngeal carcinoma. In the absence of systemic disease, localized nasopharyngeal amyloidosis may be treated conservatively.
[Lemierre's syndrome as differential diagnosis of lung cancer].

PubMed

Reinholdt Jensen, Jacob; Weinreich, Ulla Møller

2012-05-28

Lemierre's syndrome is a disseminated infection which is usually caused by Fusobacterium necrophorum. An oropharyngeal infection progresses to a septic thrombophlebitis of the internal jugular vein and later metastatic infections throughout the body occur. We present a clinical case in which a patient, initially presenting with symptoms characteristic of pulmonary cancer, turned out to have a rare variant of Lemierre's syndrome caused by Fusobacterium nucleatum.
Pretibial myxedema without ophthalmopathy: an initial presentation of Graves' disease.

PubMed

Lohiya, Sheela; Lohiya, Vipin; Stahl, Elizabeth J

2013-07-01

To report a rare case of Graves' disease without ophthalmopathy presenting with pretibial myxedema (PM) as an initial presentation. We present the clinical history, physical findings, laboratory studies and biopsy data of a 62-year-old man with a history of uncontrolled type 2 diabetes (DM2) presenting with arm and leg skin lesions in the absence of other physical findings. Histopathology confirmed PM. Graves' disease and its association with PM without Graves' ophthalmopathy and the pertinent literature are reviewed. A 60-year-old man with a history of uncontrolled DM2 presented for glycemic management. He described symptoms of anxiety, insomnia and fatigue for the last 5 to 6 months. He described diffuse chest pain, occasionally associated with palpitations, and a 50-pound weight loss. He also complained of severe itching and burning of his arms and legs for the past several months. Subsequent thyroid studies revealed hyperthyroidism suggestive of Graves' disease. In the interim, he was hospitalized for atrial flutter and was cardioverted. After being started on methimazole, his symptoms abated. His skin lesions were biopsied, and the leg biopsy was consistent with PM. He however had no lid lag or proptosis characteristic of Graves' disease. He subsequently underwent radioiodine ablation. His hyperglycemia was better control led after treatment of his hyperthyroidism. PM is an autoimmune manifestation of Graves' disease. Almost all cases of thyroid dermopathy are associated with relatively severe ophthalmopathy. Usually ophthalmopathy appears first and dermopathy much later. However, this case represents a rare initial presentation of Graves' disease with PM without ophthalmologic symptoms or findings. Hyperthyroidism is typically associated with worsening glycemic control and increased insulin requirements. In patients with diabetes having hyperthyroidism, deterioration in glycemic control should be anticipated and treatment should be adjusted accordingly. Restoration of euthyroidism will lower the blood glucose level.
Adult Onset Still’s Disease Presenting with Acute Respiratory Distress Syndrome: Case Report and Review of the Literature

PubMed Central

Dua, Anisha B.; Manadan, Augustine M.; Case, John P.

2013-01-01

Introduction: Adult-onset Still’s disease (AOSD) is a systemic inflammatory disorder characterized by rash, leukocytosis, fevers, and arthralgias. Pulmonary involvement has been reported rarely in AOSD, but acute respiratory distress syndrome (ARDS) is extremely rare and potentially fatal and must be recognized as potential manifestation of underlying AOSD. Methods: We present a case of AOSD manifested by ARDS and review the previously reported cases in Medline/Pub med. Results: Including this case, 19 cases of AOSD complicated with ARDS have been reported in the literature. Conclusions: It is important to recognize ARDS as a manifestation of AOSD so that proper diagnostic and therapeutic management can be initiated promptly. PMID:24459537
A Rare Case of Gestational Gigantomastia with Hypercalcemia: The Challenges of Management and Follow up

PubMed Central

Moazzami, Bahram; Chaichian, Shahla; Farahvash, Mohammad Reza; Taheri, Saeedeh; Ahmadi, Seyed Ali; Mokhtari, Majid; Sheibani, Kourosh

2016-01-01

Background: Gigantomastia is a breast disorder marked by exaggerated rapid growth of the breasts, generally bilaterally. Since this disorder is very rare and has been reported only in sparse case reports its etiology has yet to be fully established. Treatment is aimed at improving the clinical and psychological symptoms and reducing the treatment side effects; however, the best therapeutic option varies from case to case. Case Presentation: The present report described a case of gestational gigantomastia in a 30-year-old woman, gravida 2, parity 1, 17 week pregnant admitted to Pars Hospital, Tehran, Iran, on May 2014. The patient was admitted to hospital at week 17 of pregnancy, although her breasts initially had begun to enlarge from the first trimester. The patient developed hypercalcemia in her 32nd week of pregnancy. The present report followed this patient from diagnosis until the completion of treatment. Conclusion: Although gestational gigantomastia is a rare condition, its timely prognosis and careful examination of some conditions like hyperprolactinemia and hypercalcemia is essential in successful management of this condition. PMID:27921004
Toxoplasmosis myelopathy and myopathy in an AIDS patient: a case of immune reconstitution inflammatory syndrome?

PubMed

Kung, Doris Hichi; Hubenthal, Erica A; Kwan, Justin Y; Shelburne, Samuel A; Goodman, Jerry C; Kass, Joseph S

2011-01-01

concurrent toxoplasmosis infection of the brain, spinal cord, and muscle has never been reported together in a patient antemortem. Toxoplasma gondii is the most common focal central nervous system opportunistic infection in the acquired immune deficiency syndrome (AIDS) population. Despite this fact, isolated toxoplasmosis infection in the spinal cord is rarely reported. In addition, toxoplasmic myositis is also rarely diagnosed and Toxoplasma cysts are seldom found on biopsy. We present a patient with AIDS and toxoplasmosis resistant to standard anti-Toxoplasma therapy. a 34-year-old man with a history of untreated AIDS presented with symptoms of myelopathy. Pathologically proven toxoplasmosis of the spinal cord was diagnosed and no brain lesions were found. However, despite appropriate treatment and initiation of highly active antiretroviral therapy, the patient developed worsening symptoms, including myopathy and autonomic instability. Muscle biopsy revealed Toxoplasma cysts, and there was laboratory evidence of a restored immune system. we report the first case of toxoplasmosis presenting initially with myelitis in the absence of encephalitis that subsequently progressed to myositis despite antiparasitic treatment. We also discuss the possibility of immune reconstitution inflammatory syndrome as a cause of his deterioration.
Sarcoidosis presenting as non-scarring non-scalp alopecia.

PubMed

Dan, Luke; Relic, John

2016-08-01

In this article we describe a 39-year-old man who presented with non-scarring non-scalp alopecia of his limbs as the initial presentation of sarcoidosis. Alopecia is a rare cutaneous manifestation of sarcoidosis. A literature review has found only one other example of sarcoidosis presenting as non-scarring non-scalp alopecia in an area other than the scalp in a patient who was otherwise asymptomatic. Several reported cases have described scarring alopecia of the scalp, which is the area of skin most commonly affected by sarcoidosis. There has been one documented case of sarcoidosis manifesting as total body non-scarring alopecia in a patient who had systemic symptoms of sarcoidosis. Other cases have presented rare cutaneous manifestations of sarcoidosis but in all these cases several other organ systems have been involved, and the patient has had systemic symptoms on presentation or the cutaneous presentation did not include non-scalp non-scarring alopecia. © 2015 The Australasian College of Dermatologists.
Extremely rare coincidence of non-radiographic axial spondyloarthropathy HLA-B27 positive and Stiff Person Syndrome--rheumatologist point of view.

PubMed

Marinović, Ivanka; Pivalica, Dinko; Aljinović, Jure; Vlak, Tonko; Škorić, Ela; Martinović Kaliterna, Dušanka

2016-01-01

Stiff Person Syndrome (SPS) is a rare autoimmune neurological disorder characterized by progressive stiffness and rigidity of truncal muscles accompanied with co-contraction of agonist-antagonist muscles. Our 51-year-old female patient was presented for the first time to physiatrists in 2006 and diagnosed with axial-spondyloarthropathy (SpA) HLA-B27 positive. SPS was diagnosed 7 years after initial symptoms. SPS should be taken into consideration in HLA-B27 positive patients if stiffness of paravertebral and abdominal muscles progresses during SpA therapy.
[Lupus enteritis as initial manifestation of systemic lupus erythematosus. Report of one case].

PubMed

Barrera O, Manuel; Barrera M, Rodrigo; de la Rivera V, Matías; Vela U, Javier; Mönckeberg F, Gustavo

2017-10-01

Although gastrointestinal symptoms are not rare in Systemic lupus erythematosus, enteritis is an atypical manifestation of the disease. We report a 54 year-old woman who presented acute symptoms of diarrhea, fever and abdominal pain, receiving empiric antibiotic therapy for bacterial enteritis with no response. Computed tomography showed diffuse small intestine inflammation and serositis. Antinuclear antibodies, anti-Ro and anti-La were positive on blood tests. A lupic enteropathy was diagnosed and steroid treatment was initiated, with subsequent clinical improvement.
A unique case of ovarian psammocarcinoma with mediastinal, pulmonary, subcutaneous, and omental metastases.

PubMed

Chase, Daniel M; Sparks, Dorothy A; Gener, Melissa; Smith, James

2009-08-01

Psammocarcinoma is a rare form of serous ovarian and peritoneal carcinoma, characterized by abundant psammoma bodies, invasiveness, and low-grade cytological features. Many of the cases which have been reported had extraovarian spread and peritoneal seeding at the time of presentation. We present a case of 45-year-old woman with ovarian psammocarcinoma who initially presented with a metastatic subcutaneous nodule, and was found to have pulmonary and mediastinal metastases. We believe this to be the first report of a psammocarcinoma with these metastases. Ovarian and peritoneal psammocarcinomas are quite rare, and because of this, knowledge of their behavior is limited. Although most seem to follow an indolent course similar to that of borderline lesions of the ovary, this case demonstrates that some of these tumors may be clinically aggressive with distant metastases.
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.
Septic arthritis of the shoulder in a dental patient: a case report and review.

PubMed

Dolin, Elana; Perlmutter, Leigh D; Segelnick, Stuart L; Weinberg, Mea A; Schoor, Robert

2014-04-01

Septic arthritis of the glenohumoral joint is rare following dental procedures, comprising approximately 3% of all joint infections. Septic arthritis following bacteremia from dental procedures is uncommon and generally occurs in prosthetic joints. Predisposing causes may include immunocompromising diseases such as diabetes, HIV infection, renal failure and intravenous drug abuse. We report a rare case of unilateral glenohumoral joint septic arthritis in a 60-year-old male patient (without a prosthetic joint) secondary to a dental procedure. The insidious nature of the presentation is highlighted. Septic arthritis infections, though rare, require a high level of clinical suspicion. Vague symptoms of shoulder pain may mask the initial diagnosis, as was the case in our patient. Incision and drainage via surgical intervention are often required, followed by parenteral antibiotics.
A rare case of leiomyosarcoma originating from the left round ligament of the uterus.

PubMed

Kaba, Metin; Tokmak, Aytekin; Timur, Hakan; Özdal, Bülent; Şirvan, Levent; Güngör, Tayfun

2016-07-01

Uterine leiomyosarcomas (LMS) are rare malignancies with a poor prognosis. The incidence is reported to be 3-7/100.000 per year. Preoperative and intraoperative differentiation between LMS and large leiomyoma is always challenging. Therefore, LMS are often diagnosed during postoperative histologic evaluation of hysterectomy or myomectomy specimens. LMS of the round ligament of the uterus which can represent as an inguinal or pelvic mass is extremely rare. To our knowledge, there is only one case report of LMS arising from the round ligament available in the literature. Herein, we aimed to present the second case of LMS originating from the left round ligament of the uterus in a premenopausal woman initially misdiagnosed as an ovarian tumor. © 2016 Old City Publishing, Inc.
Presence of gas in left ventricle due to infective endocarditis.

PubMed

Laiq, Zenab; Yarmohammadi, Hirad; Nabeel, Yassar; Adatya, Sirtaz

2016-01-01

Gas in myocardium is a rare manifestation of infective endocarditis caused by gas producing bacteria. We present a case of infective endocarditis caused by Citrobacter Koseri initially diagnosed by computed tomography and confirmed with transesophageal echocardiogram. Copyright © 2016 Society of Cardiovascular Computed Tomography. Published by Elsevier Inc. All rights reserved.
Gastric ulceration in an equine neonate

PubMed Central

Lewis, Susan

2003-01-01

A 24-hour-old colt presented with clinical signs consistent with gastric ulceration. Treatment was initiated with a histamine type-2 receptor antagonist and clinical signs resolved. Gastroscopy at 16 d confirmed the presence of a gastric ulcer. Although gastric ulceration is common in foals, it is rarely reported in foals this young. PMID:12757136
A rare diabetes ketoacidosis in combined severe hypernatremic hyperosmolarity in a new-onset Asian adolescent with type I diabetes.

PubMed

Kim, Hyung Jin; Kim, Dong Hyun; Jun, Yong Hoon; Lee, Ji Eun

2014-12-17

A 13-year-old Asian boy presented with an 8 h history of lethargy and vomiting. He had a 3-week history of polyuria, polydipsia and a 6 kg weight loss over a period of 1 month. Fluid intake prior to admission was over 6 L of sports drinks and cola per day. Initial biochemical findings were as follows: plasma glucose 1351 mg/dL, serum sodium 154 mEq/L, serum osmolarity 425 mOsm/L, arterial blood pH 6.96 and urine ketone of 3+. He was treated with intensive fluid resuscitation and an insulin infusion. He completely recovered without any neurological deficits. Severe hypernatremia is rare in diabetic ketoacidosis (DKA) but was exhibited in this case. Excess intake of carbonated carbohydrate-rich beverages may exacerbate the initial severe presentation of type I diabetes mellitus (T1DM). To the best of our knowledge, this is the first case of an Asian child with DKA combined with severe hypernatremic hyperosmolarity at onset of T1DM. 2014 BMJ Publishing Group Ltd.
A rare case of thrombotic microangiopathy triggered by acute pancreatitis.

PubMed

Singh, Kevin; Nadeem, Ahmed Jamal; Doratotaj, Behzad

2017-05-15

Thrombotic microangiopathy (TMA) occurring after acute pancreatitis is rarely described. Without prompt intervention, TMA can be, and often is, lethal, so prompt recognition is important. Here, we present a case of a 61-year-old woman with a history of alcohol misuse who presented with epigastric pain, nausea and vomiting after binge drinking. Elevated serum lipase and imaging were suggestive of acute-on-chronic pancreatitis. Although the patient's symptoms of acute pancreatitis subsided, her anaemia, thrombocytopenia and acute kidney injury worsened. A peripheral blood smear revealed schistocytes, prompting suspicion for TMA. Therapeutic plasma exchange (TPE) was promptly initiated and she completed 10 TPE sessions that improved her anaemia and serum creatinine and resolved the thrombocytopenia. Since TPE was effective and the ADAMTS13 assay revealed 55% activity in the absence of anti-ADAMTS13 IgG prior to initiation of therapy, a confident diagnosis of TMA caused by acute pancreatitis was made. There was no evidence of relapse 2 years later. © 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.

Rhabdomyolysis in a Patient with Severe Hypothyroidism.

PubMed

Salehi, Nooshin; Agoston, Endre; Munir, Iqbal; Thompson, Gary J

2017-08-22

BACKGROUND Muscular symptoms, including stiffness, myalgia, cramps, and fatigue, are present in the majority of the patients with symptomatic hypothyroidism, but rhabdomyolysis, the rapid breakdown of skeletal muscle, is a rare manifestation. In most patients with hypothyroidism who develop rhabdomyolysis, precipitating factors, such as strenuous exercise or use of lipid-lowering drugs, can be identified. CASE REPORT We report a case of a 52-year-old Hispanic woman with a history of hypothyroidism, hypertension, and type 2 diabetes mellitus who presented with fatigue, severe generalized weakness, bilateral leg pain, and recurrent falls. She reported poor medication compliance for the preceding month. Initial laboratory testing showed elevated thyroid stimulating hormone (TSH) and creatine kinase (CK) levels, indicating uncontrolled hypothyroidism with associated rhabdomyolysis. Supportive treatment with intravenous fluids and intravenous levothyroxine were initiated and resulted in dramatic clinical improvement. CONCLUSIONS We report a case of rhabdomyolysis, which is a rare but potentially serious complication of hypothyroidism. Screening for hypothyroidism in patients with elevated muscle enzymes should be considered, since an early diagnosis and prompt treatment of hypothyroidism is essential to prevent rhabdomyolysis and its consequences.
Lightning can strike twice: an unlucky patient of neurological interest.

PubMed

Gilbee, Ebony S

2013-06-24

Poliomyelitis, once a worldwide epidemic, is becoming increasingly rare owing to the introduction of the polio vaccine in the 1950s. It is estimated that the number of cases of polio has reduced by 99% since the Global Polio Eradication Initiative (GPEI) started in 1988. Amyotrophic lateral sclerosis (ALS) is another relatively uncommon condition which also affects anterior horn cells with debilitating neurological, and deadly, consequences. An unusual case of an aggressive form of ALS developing in a 72-year-old patient with paralytic poliomyelitis in childhood is presented. Her initial presentation was puzzling, and our approach to the diagnostic dilemma is discussed.
Chest pain in the emergency room-an interesting case presentation.

PubMed

Turner, Michael C

2016-12-01

A 61-year-old woman presented to the emergency room with atypical chest pain, non-diagnostic electrocardiogram, and an initial troponin level that was normal. A coronary computed tomography angio (CCTA) was performed, and on initial review, it appeared to be normal. Subsequent review including evaluation of functional data from the retrospective scan identified a distal left anterior descending occlusion and an apical wall-motion abnormality with no other evidence of heart disease. This case illustrates the complementary contribution of anatomic and functional data and serves to remind us that on rare occasions, what looks "normal" is not always normal. © 2016, Wiley Periodicals, Inc.
Erythema Nodosum as the Initial Presentation of Nivolumab-Induced Sarcoidosis-Like Reaction.

PubMed

Laroche, Alexandre; Alarcon Chinchilla, Evelyn; Bourgeault, Emilie; Doré, Marc-André

2018-05-01

We report a case of nivolumab-related sarcoidosis-like syndrome that initially presented with erythema nodosum. Sarcoidosis development has been described in single and combination immunotherapy. A 68-year-old white woman with metastatic ocular amelanotic choroid melanoma was treated with nivolumab. The patient developed histologically confirmed erythema nodosum lesions and pulmonary granuloma sarcoidosis. Nivolumab was discontinued and the patient started ipilimumab therapy. Sarcoidosis-like syndrome with lymphadenopathy is a rare adverse event that is important to recognize since it can be mistaken for metastatic disease progression. Tissue biopsy of new lesions during immunotherapy is an important step in patient evaluation.
Use of Recombinant Factor VIIa in a Pediatric Patient With Initial Presentation of Refractory Acute Immune Thrombocytopenic Purpura and Severe Bleeding

PubMed Central

Gurion, Reut; Siu, Anita; Weiss, Aaron R.; Masterson, Margaret

2012-01-01

Severe bleeding in acute immune thrombocytopenic purpura (ITP) is rare but can cause significant complications to the patient. Here we report the case of a pediatric patient with acute ITP and hematuria refractory to anti-D immune globulin, high dose intravenous immunoglobulin G, and high dose steroids. Her hematuria was successfully treated with recombinant factor VIIa (rFVIIa). While further investigation on the use of rFVIIa in ITP is warranted, this case report contributes to the pediatric literature for its use during the course of an initial presentation of ITP with hemorrhagic complications. PMID:23258971
Lightning can strike twice: an unlucky patient of neurological interest

PubMed Central

Gilbee, Ebony S

2013-01-01

Poliomyelitis, once a worldwide epidemic, is becoming increasingly rare owing to the introduction of the polio vaccine in the 1950s. It is estimated that the number of cases of polio has reduced by 99% since the Global Polio Eradication Initiative (GPEI) started in 1988. Amyotrophic lateral sclerosis (ALS) is another relatively uncommon condition which also affects anterior horn cells with debilitating neurological, and deadly, consequences. An unusual case of an aggressive form of ALS developing in a 72-year-old patient with paralytic poliomyelitis in childhood is presented. Her initial presentation was puzzling, and our approach to the diagnostic dilemma is discussed. PMID:23814000
Molecular Diagnosis of Cystic Fibrosis.

PubMed

Deignan, Joshua L; Grody, Wayne W

2016-01-01

This unit describes a recommended approach to identifying causal genetic variants in an individual suspected of having cystic fibrosis. An introduction to the genetics and clinical presentation of cystic fibrosis is initially presented, followed by a description of the two main strategies used in the molecular diagnosis of cystic fibrosis: (1) an initial targeted variant panel used to detect only the most common cystic fibrosis-causing variants in the CFTR gene, and (2) sequencing of the entire coding region of the CFTR gene to detect additional rare causal CFTR variants. Finally, the unit concludes with a discussion regarding the analytic and clinical validity of these approaches. Copyright © 2016 John Wiley & Sons, Inc.
Leukemoid reaction secondary to hypersensitivity syndrome to phenobarbital: a case report.

PubMed

Zeng, Qinghai; Wu, Yuanqiang; Zhan, Yi; Tang, Ling; Zhou, Yangmei; Yin, Jun; Fan, Fan; Zhang, Guiying; Lu, Qianjin; Xiao, Rong

2013-01-01

The most important adverse effects of phenobarbital, an anticonvulsant drug, are behavior and cognitive alterations. Hypersensitivity syndrome caused by phenobarbital presenting with a leukemoid reaction is a rare side effect, which is rarely ever reported and needs to be known. We report on a 27-year-old Chinese woman who experienced hypersensitivity syndrome three weeks after the initiation of phenobarbital. The patient developed fever, skin rash, face swelling, lymphadenopathy, myalgia, hepatitis, eosinophilia, atypical lymphocytes and leukocytosis. Along with the pathological progress of the disease, the patient noticed a gradual exacerbation of her symptoms. And the highest leukocyte count was up to 127.2 x 10(9)/L. After discontinuing of phenobarbital and administration of methylprednisolone combined with the intravenous immunoglobulin shock therapy, all initial symptoms improved and the leukocyte count normalized. This case is reported because of its rarity of the leukemoid reaction secondary to hypersensitivity syndrome to phenobarbital.
Does Your Patient's Urine Turns Dark? Alkaptonuria and Low Back Ache: A Literature Review.

PubMed

Kanniyan, Kalaivanan; Pathak, Aditya C; Dhammi, Ish Kumar; Jain, Anil Kumar

2014-01-01

Alkaptonuria is a very rare inborn error of amino acid metabolism due to deficient homogentisic acid (HGA) oxidase enzyme leading to accumulation of HGA in plasma, cartilage, other tissues of human body and its excretion in urine. It has both systemic and peripheral signs and symptoms. Though low back is a common symptom of alkaptonuria but, in the absence of ochronosis it is rare. Alkaptonuria itself is very rare occurrence with no specific treatment option available to reverse the effect as yet. A 38-year-old male, embroidery worker presented with chronic low back ache with history of staining of clothes in infancy. Later on laboratory and the radiological investigation patient was diagnosed to have alkaptonuria without ochronosis. No other systemic manifestation was present. Patient was treated conservatively and responded well. Though alkaptonuria is a very rare disease, and the occurrence of low back-ache in absence of ochronosis is much rarer. One must be aware of this inborn error of metabolism. Early diagnosis though being "diagnosis of exclusion" for low back-ache, high index of suspicion is advantageous as symptomatic treatment of the alkaptonuria can be initiated and evaluation of other systemic organs can be done in early stages itself.
Breast mass as the initial presentation of esophageal carcinoma: a case report

PubMed Central

Norooz, Mohammad Tayefeh; Ahmadi, Hamed; Zavarei, Mansour Jamali; Daryaei, Parviz

2009-01-01

Introduction Esophageal cancer is considered as a fatal malignancy. It mostly metastasizes to lung, liver, and bone while breast metastasis has been rarely reported. This is the fifth report of metastatic breast cancer from esophageal cancer, which differs from previous reported cases in terms of initial presentation with metastatic breast mass and no metastatic involvement of other organs. Case presentation We present a 35-year-old Caucasian woman who initially complained of a painful breast mass. Squamous pearls on cytologic evaluation suggested a metastatic lesion. Two months history of dysphagia was extracted through detailed interview with patient and further investigation revealed a stage IV esophageal squamous cell carcinoma. Conclusion In this case, breast lesion as an unusual presentation of esophageal carcinoma emphasizes the great role of thorough medical history taking and cytologic study in evaluating an accidentally detected breast mass. The increasing reports of breast metastasis in patients with esophageal carcinoma necessitate the careful breast examination in visits after treatment of the primary tumor. PMID:19829901
Fatal hypertriglyceridaemia, acute pancreatitis and diabetic ketoacidosis possibly induced by quetiapine.

PubMed

Madsen, Kristian Roerbaek

2014-01-08

A 27-year-old man treated with quetiapine for anxiety disorder developed hypertriglyceridaemia-induced acute pancreatitis and diabetic ketoacidosis. He was otherwise physically healthy with no family history of hyperlipidaemia. Despite aggressive intensive therapy he died of multiorgan failure within 36 h from initial presentation. While second-generation antipsychotics are well known to be causally linked to diabetes and hyperlipidaemia, this is to my knowledge the first-described case of a fatal triad of extreme hypertriglyceridaemia, acute pancreatitis and diabetic ketoacidosis possibly induced by quetiapine. Clinicians should be aware of this rare clinical presentation since rapid progression to multiorgan failure can occur. Early supportive therapy should be initiated. Lactescent serum and ketoacidosis in severe acute pancreatitis should not be overlooked-initiate insulin therapy and possibly plasmapheresis in case of extreme hypertriglyceridaemia.
Nephropathic Cystinosis Mimicking Bartter Syndrome: a Novel Mutation.

PubMed

Bastug, Funda; Nalcacioglu, Hulya; Ozaltin, Fatih; Korkmaz, Emine; Yel, Sibel

2018-01-01

Cystinosis is a rare autosomal recessive disorder resulting from defective lysosomal transport of cystine due to mutations in the cystinosin lysosomal cystine transporter (CTNS) gene. The clinical phenotype of nephropathic cystinosis is characterized by renal tubular Fanconi syndrome and development of end-stage renal disease during the first decade. Although metabolic acidosis is the classically prominent finding of the disease, a few cases may present with hypokalemic metabolic alkalosis mimicking Bartter syndrome. Bartter-like presentation may lead to delay in diagnosis and initiation of specific treatment for cystinosis. We report a case of a 6-year-old girl initially presenting with the features of Bartter syndrome that was diagnosed 2 years later with nephropathic cystinosis and a novel CTNS mutation.
Pasteurella multocida Bacteremia in an Immunocompromised Patient.

PubMed

Kukrety, Shweta; Parekh, Jai; Townley, Theresa

2016-01-01

We present the case of a 61-year-old Caucasian gentleman who presented with a one-day history of fever, chills, and altered mental status. His symptoms were initially thought to be secondary to cellulitis. Blood cultures grew Pasteurella multocida , a rare pathogen to cause bacteremia. Our patient was treated with ciprofloxacin for two weeks and made a complete and uneventful recovery. Our patient's uncontrolled diabetes mellitus and chronic kidney disease put him at a higher risk for developing serious P. multocida infection. The patient's dog licking the wounds on his legs was considered as the possible source of infection. As P. multicoda bacteremia is rare, but severe with a high mortality rate, it is imperative to have a high index of suspicion for this infection especially in the vulnerable immunocompromised population.
Pasteurella multocida Bacteremia in an Immunocompromised Patient

PubMed Central

Parekh, Jai; Townley, Theresa

2016-01-01

We present the case of a 61-year-old Caucasian gentleman who presented with a one-day history of fever, chills, and altered mental status. His symptoms were initially thought to be secondary to cellulitis. Blood cultures grew Pasteurella multocida, a rare pathogen to cause bacteremia. Our patient was treated with ciprofloxacin for two weeks and made a complete and uneventful recovery. Our patient's uncontrolled diabetes mellitus and chronic kidney disease put him at a higher risk for developing serious P. multocida infection. The patient's dog licking the wounds on his legs was considered as the possible source of infection. As P. multicoda bacteremia is rare, but severe with a high mortality rate, it is imperative to have a high index of suspicion for this infection especially in the vulnerable immunocompromised population. PMID:27847521
Scombroid fish poisoning illness and coronary artery vasospasm.

PubMed

Anastasius, Malcolm; Yiannikas, John

2015-01-01

We present an interesting case of a young man with coronary artery vasospasm complicating scombroid fish poisoning illness. The initial presentation included tachycardia and significant hypotension. A 12-lead ECG showed sinus tachycardia with marked widespread ST segment depression and ST elevation in aVR. Symptoms subsequently improved with intravenous fluid rehydration, antihistamines, and glyceral trinitrate. The underlying pathogenesis and treatment of this rarely described manifestation of the fish poisoning illness is discussed.
Subsequent pancreatitis and haemothorax in a patient of expanded dengue syndrome.

PubMed

Anam, Ahmad Mursel; Rabbani, Raihan; Shumy, Farzana; Polash, M Mufizul Islam

2016-01-01

We report a case of expanded dengue syndrome, where two different presentations occurred subsequently. A patient of dengue haemorrhagic fever initially was admitted with acute pancreatitis, complicated with left pancreatic effusion, but later on, during resolution of pancreatitis and effusion, developed spontaneous right haemothorax. Such presentations, besides being rare themselves, have not been reported to occur subsequently, in the same patient, during the same disease process. © The Author(s) 2015.
Foetus in foetu: CT findings in two cases.

PubMed

Chadha, M; Aggarwal, B K

2002-01-01

Foetus in foetu is a rare abdominal mass presenting in early childhood, which shows classic radiologic appearances that make a preoperative diagnosis certain. We present two such cases in which the diagnosis was initially established on computed tomography, which showed mature skeletal structures including vertebrae and long bones in addition to fat. The diagnosis was corroborated by plain radiography and magnetic resonance imaging in one case and confirmed operatively and histopathologically in both cases.
Stevens-Johnson syndrome following use of metronidazole in a dental patient.

PubMed

Mazumdar, Goutameswar; Shome, Koushik

2014-01-01

Metronidazole alone rarely causes Stevens-Johnson syndrome (SJS). We present a case of an elderly male patient who, following metronidazole use, developed neurological symptoms followed by pain and blisters on both soles, erythema of face and neck, scrotal itching and erosion, and hemorrhagic encrustation around the lips and oral mucous membrane. Initial neurological symptoms followed by mucocutaneous manifestation of SJS following metronidazole use is probably a new presentation of this case.
Acute lymphoblastic leukemia mimicking Wilms tumor at presentation.

PubMed

Singh, Amitabh; Mandal, Anirban; Guru, Vijay; Seth, Rachna

2016-09-01

Acute lymphoblastic leukemia (ALL), the commonest malignancy of childhood, is known to manifest with a myriad of atypical presentations. Nephromegaly is a rare presentation of childhood ALL with hepatic mass being even rarer. We present a 3 year-old child with unilateral renal mass and hepatic mass lesion with normal blood counts, initially suspected to have metastatic Wilms tumor based on clinical, radiological and WT1 positivity on immunocytochemistry of renal mass. He was later diagnosed as ALL with peripheral blood flowcytometry and bone marrow examination. Renomegaly at presentation of acute leukemia is not necessarily due to leukemic infiltration and rarely leads to renal impairment. The radiological differential of such a renal mass includes both benign and malignant entities including metastasis. Over-expression of WT1 mRNA has been found in a number of solid tumors and hematological malignancies and is far from being diagnostic of Wilms tumor. Again, a small number of children with acute leukemia may have a deceptively normal complete blood count at presentation. Though, initial all (clinical, radiological, hematological, and immunocytological) parameters pointed towards a diagnosis of Wilms tumor in our case, the subsequent development of thrombocytopenia and lymphocytic leukocytosis prompted further investigation and final diagnosis of ALL. WT1 positivity is a known phenomenon in childhood ALL and undifferentiated lymphoblasts may be positive for WT1 and negative for Leucocyte common antigen. Acute leukemia with renal and hepatic mass with normal blood counts at presentation is a diagnostic challenge.
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.

Atypical teratoid rhabdoid tumor in a 65-year-old man presenting with disseminated leptomeningeal disease: A case report and review of the literature.

PubMed

Babi, Marc-Alain; Fecci, Peter; Luedke, Matthew; Pineda, Olinda; O'Keefe, Yasmin Ali

2018-01-01

Central nervous system atypical teratoid rhabdoid tumors are very rare aggressive tumor of childhood, primarily occurring at age of less than 3 years old. The prognosis of these tumors is very poor, with a reported median survival of 6-12 months in most cases. Treatment typically consists of aggressive chemotherapy and radiotherapy. We present the case of a 65-year-old man who presented with progressive encephalopathy and change in personality over 3 months period. The patient had further accelerated decline over 3 weeks. The diagnosis of atypical teratoid rhabdoid tumor initially remained elusive despite very extensive workup, but was eventually confirmed via open brain biopsy. To the best of our knowledge, this is the oldest reported case of atypical teratoid rhabdoid tumor in the literature. We further extend the spectrum of this rare disease.
De morseir syndrome presenting as ambiguous genitalia.

PubMed

Thukral, Anubhav; Chitra, S; Chakraborty, Partho P; Roy, Ajitesh; Goswami, Soumik; Bhattacharjee, Rana; Dutta, Deep; Maisnam, Indira; Ghosh, Sujoy; Mukherjee, Satinath; Chowdhury, Subhankar

2012-12-01

A 10-year-old boy presented with genital ambiguity, poor linear growth, and delayed milestones. The aim and to highlight that although rare but congenital, hypogonadotropic hypogonadism may rarely present as ambiguity. The patient was found to have bilateral cryptorchidism with proximal penile hypospadias, microphallus with a proportionate dwarfism with mildly delayed bone age, and karyotype 46XY. Euthyroid with normal steroid axis, growth hormone insufficient as suggested by auxology, low IGF1, and poor response to clonidine stimulation. MRI brain shows hypoplastic corpus callosum, hypoplastic anterior pituitary, and ectopic posterior pituitary bright spot. The patient underwent laparoscopic removal of right intrabdominal testis and orchidoplexy was performed on the left one. Testicular biopsy revealed no malignancy and growth hormone replacement was initiated. The patient awaits definitive repair of hypospadias. As a provisional diagnosis of combined growth hormone and gonadotropin deficiency, most probable diagnosis is septo-optic dysplasia or de moseir syndrome leading to genital ambiguity.
Reexpansion pulmonary edema in children

PubMed Central

Rodrigues, Antonio Lucas L.; Lopes, Carlos Eduardo; Romaneli, Mariana Tresoldi das N.; Fraga, Andrea de Melo A.; Pereira, Ricardo Mendes; Tresoldi, Antonia Teresinha

2013-01-01

OBJECTIVE To present a case of a patient with clinical and radiological features of reexpansion pulmonary edema, a rare and potentially fatal disease. CASE DESCRIPTION An 11-year-old boy presenting fever, clinical signs and radiological features of large pleural effusion initially treated as a parapneumonic process. Due to clinical deterioration he underwent tube thoracostomy, with evacuation of 3,000 mL of fluid; he shortly presented acute respiratory insufficiency and needed mechanical ventilation. He had an atypical evolution (extubated twice with no satisfactory response). Computerized tomography findings matched those of reexpansion edema. He recovered satisfactorily after intensive care, and pleural tuberculosis was diagnosed afterwards. COMMENTS Despite its rareness in the pediatric population (only five case reports gathered), the knowledge of this pathology and its prevention is very important, due to high mortality rates. It is recommended, among other measures, slow evacuation of the pleural effusion, not removing more than 1,500 mL of fluid at once. PMID:24142327
Primary intimal sarcoma of the left atrium presenting with constitutional symptoms

PubMed Central

Ferreira, António; Felgueiras, Paula; Silva, Augusta; Ribeiro, Carlos; Guerra, Diana; de Melo, Daniel Pereira; Manuel Lopes, José

2017-01-01

Abstract Intimal (spindle-cell) sarcomas are exceptionally rare and are highly aggressive cardiac tumors. The authors describe a case of a 43-year-old female, presenting with a 3-month history of constitutional symptoms with fever, night sweats, anorexia and weight loss, associated with productive cough and pleural effusion that was admitted with clinical suspicion of pulmonary tuberculosis. The patient developed sudden acute heart failure symptoms during hospitalization, leading to mechanical ventilation. Computed tomography scan with contrast showed a cardiac tumor filling the left atrium causing compression of pulmonary veins. Surgical resection was performed and histologic examination revealed an intimal sarcoma. Although commenced on adjuvant chemotherapy, local tumor recurrence occurred with pericardium invasion. The patient died within 4 months of initial diagnosis. This report aims to describe an unusual presentation of this rare disease entity, and to discuss its highly aggressive clinical course. PMID:28694971
Squamous cell carcinoma arising within a maxillary odontogenic keratocyst: A rare occurrence

PubMed Central

Jalali, Elnaz; Ferneini, Elie M.; Rengasamy, Kandasamy

2017-01-01

Squamous cell carcinoma (SCC) arising within the lining of an odontogenic keratocyst (OKC) is a rare occurrence. Although potentially locally destructive, OKC is a benign odontogenic process that typically presents with clinical and radiographic features characteristic of a benign intraosseous neoplasm. We present the clinical and radiographic features of a maxillary mass that demonstrated SCC arising from the lining of an OKC. Although the initial clinical and radiographic presentation suggested an infection or malignant neoplasm, biopsies revealed an infiltrative well-differentiated SCC contiguous with and arising from the focus of a pre-existing OKC. The patient subsequently underwent a type II hemi-maxillectomy with neoadjuvant chemoradiation. This report discusses the clinical and radiographic features associated with intraosseous malignancies, especially those arising from an otherwise benign odontogenic lesion. While the majority of OKCs are benign, the current report illustrates the potential for carcinomatous transformation within the lining of an OKC. PMID:28680851
Type I Chiari malformation presenting central sleep apnea.

PubMed

Kitamura, Takuro; Miyazaki, Soichiro; Kadotani, Hiroshi; Kanemura, Takashi; Okawa, Masako; Tanaka, Toshihiko; Komada, Ichiro; Hatano, Taketo; Suzuki, Hideaki

2014-04-01

Sleep apnea is a rare but a well-known clinical feature of type I Chiari malformation. It may be obstructive or central in nature. Sleep apnea in patients with type I Chiari malformation rarely presents without accompanying neurological signs or symptoms. We here report a case of a 10-year-old girl who presented with central sleep apnea without any other neurological signs but was ultimately diagnosed with type I Chiari malformation. The patient initially showed mild improvement in symptoms after administration of an acetazolamide. Finally, posterior fossa decompression dramatically improved her respiratory status during sleep, both clinically and on polysomnography. This case suggests that type I Chiari malformation should be considered in the differential diagnoses of central apneas in children, even if there are no other neurological signs and symptoms. Furthermore, sagittal craniocervical magnetic resonance imaging may be necessary for a definitive diagnosis. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.
Subungual and periungual congenital blue naevus.

PubMed

Gershtenson, Platina Coy; Krunic, Aleksandar; Chen, Helen; Konanahalli, Madhuri; Worobec, Sophie

2009-05-01

Subungual pigmented lesions should raise concern about malignant melanoma. Blue naevus of the nail apparatus is a rare entity, with only ten cases described in the literature. We report a 21-year-old Hispanic woman with a slowly enlarging 1.7 x 2.3-cm subungual and periungual pigmented plaque present since birth on her right second toe. Initial biopsy was consistent with a blue naevus of the cellular type and, given the recent clinical change and periungual extension, complete excision was recommended. The entire nail unit was resected down to periosteum with prior avulsion of the nail plate. Reconstruction was performed with a full-thickness skin graft. Follow up at 1 year revealed well-healed graft and donor sites with complete return of function. We present a case of a congenital subungual and periungual blue naevus of the cellular type and review the literature on this rare presentation of a congenital blue naevus.
Cutaneous mucormycosis as a presenting feature of type 1 diabetes in a boy - case report and review of the literature.

PubMed

Jevalikar, Ganesh; Sudhanshu, Siddhnath; Mahendru, Sanjay; Sarma, Smita; Farooqui, Khalid J; Mithal, Ambrish

2018-06-27

Mucormycosis is a potentially fatal complication of diabetes. The rhino-orbito-cerebral form is the most common presentation, however, rarely other types can also be seen. We describe the case of a 4½ -year-old boy not previously known to be a diabetic who presented to the plastic surgery department for gangrene of the left middle finger with surrounding erythema and induration. After the diagnosis of diabetes and initial treatment, pus from the wound showed broad aseptate hyphae suggestive of mucormycosis which was further confirmed on culture. Aggressive surgical debridement including amputation, antifungal treatment and glycemic control achieved a complete cure. Cutaneous mucormycosis is a rare complication of type 1 diabetes mellitus and can even be seen at the onset of diabetes. High index of suspicion, timely antifungal treatment and aggressive surgical debridement usually lead to recovery in the localized form of the disease.
A rare case of renal vein thrombosis due to urinary obstruction.

PubMed

Jana, Tanima; Orlander, Philip R; Molony, Donald A

2015-08-01

Renal vein thrombosis (RVT) is an uncommon condition in adults and may be caused by endothelial damage, stasis, or hypercoagulable states. RVT is commonly identified in patients with nephrotic syndrome or malignancy. We present the case of a 57-yearold man with no past medical history who presented with a 1-month history of abdominal pain, dysuria, and hematuria. Initial laboratory studies were consistent with acute kidney injury (AKI). Imaging revealed bladder distension, enlargement of the prostate, bilateral hydronephrosis, and left renal vein thrombosis extending into the inferior vena cava. His renal failure and presenting symptoms resolved with placement of a Foley catheter and ureteral stent. The patient was discharged on anticoagulation. Here, we report a rare case of RVT that appears to have occurred as a consequence of obstructive uropathy causing massive bladder distention resulting in compression of the renal vein.
Superficial Dorsal Vein Rupture Imitating Penile Fracture

PubMed Central

Topsakal, Medih; Kavukcu, Ender; Karadeniz, Tahir

2011-01-01

Dorsal vein rupture of the penis is a rare condition, and few cases have been reported in the literature. Herein we report a 41-year-old man who presented with mildly painful and acute swollen penis, which initially imitated a penile fracture but was surgically explored and shown to be a superficial dorsal vein rupture. PMID:21556219
[Transhepatic percutaneous embolisation of a post-traumatic pseudoaneurysm of hepatic artery].

PubMed

Marcheix, B; Dambrin, C; Cron, C; Sledzianowski, J F; Aguirre, J; Suc, B; Cerene, A; Rousseau, H

2004-12-01

Pseudoaneurysm of the hepatic artery is a rare complication of blunt abdominal trauma. We report a case of post-traumatic pseudoaneurysm diagnosed several months after the initial traumatism in a 18-year-old man who presented recurrent abdominal pain. This pseudoaneurysm was successfully treated by association of both classical endovascular treatment and transhepatic percutaneous embolization.
Rare incidence of tumor lysis syndrome in metastatic prostate cancer following treatment with docetaxel.

PubMed

Bhardwaj, Sharonlin; Varma, Seema

2018-03-01

Tumor lysis syndrome is a serious and sometimes lethal complication of cancer treatment that is comprised of a set of metabolic disturbances along with clinical manifestations. Initiating chemotherapy in bulky, rapidly proliferating tumors causes rapid cell turnover that in turn releases metabolites into circulation that give rise to metabolic derangements that can be dangerous. This syndrome is usually seen in high-grade hematological malignancies. Less commonly, tumor lysis syndrome can present in solid tumors and even rarely in genitourinary tumors. In this report, the authors describe a specific case of tumor lysis syndrome in a patient with metastatic prostate cancer following treatment with docetaxel.
A microbiological hazard of rural living: Clostridium septicum brain abscess in a child with E coli 0157 associated haemolytic uraemic syndrome

PubMed Central

Williams, Eleri J; Mitchell, Patrick; Mitra, Dipayan; Clark, Julia E

2012-01-01

Clostridium septicum infection in humans is rare and this is the second case report of focal C septicum brain abscesses associated with Escherichia coli 0157 haemolytic uraemic syndrome (HUS). The case presented in a child who lived on a rural farm. The abscesses initially progressed despite 7 months of appropriate antibiotic therapy and repeated image-guided aspiration. After definitive resection and prolonged antibiotic therapy, there was no recurrence. This case reminds us of this rare but important neurological complication of HUS and supports consideration of early definitive neurosurgical intervention in similar unusual cases. PMID:22736786
Rare cancers: Challenges & issues.

PubMed

Pillai, Raveendran K; Jayasree, K

2017-01-01

Rare cancers account for about 22 per cent of all cancers diagnosed worldwide, disproportionately affecting some demographic groups, with an occurrence of less than 6 per 100,000 individuals annually. Many rare cancers in adults, adolescents and children are not curable, and patients and care providers have little option to take therapeutic decisions. The epidemiology of rare cancers is a challenging area of study but is inadequately addressed. Despite efforts mainly in some European nations, a few improvements have been observed in the management of rare cancers. Reasons for this obvious stagnation are multifactorial and are mainly inherent to logistical difficulties in carrying out clinical trials in very small patient populations, hesitation of the pharmaceutical industry to spend in small markets and complexity in creating adequate information for the development of cost-effective drugs. Rare cancers also face specific challenges that include late and incorrect diagnosis, lack of clinical expertise and lack of research interest and development of new therapies. The utilization of nationally representative study findings for the patients' evaluation may possibly offer chances to find out pathogenesis and prevalence, and this will eventually lead to control and prevention. Currently, advancing targeted therapies offer a great opportunity for the better management of rare cancers. Conducting clinical trials with small patient population, innovative clinical trial approach, prevailing controlling obstacles for international cooperation and financial support for research are the present challenges for rare cancers. The International Rare Cancers Initiative functions as a main platform for achieving new international clinical trials in rare tumours. This review delineates the current challenges and issues in the interpretation, management and research scenarios of rare cancers.
Rare cancers: Challenges & issues

PubMed Central

Pillai, Raveendran K.; Jayasree, K.

2017-01-01

Rare cancers account for about 22 per cent of all cancers diagnosed worldwide, disproportionately affecting some demographic groups, with an occurrence of less than 6 per 100,000 individuals annually. Many rare cancers in adults, adolescents and children are not curable, and patients and care providers have little option to take therapeutic decisions. The epidemiology of rare cancers is a challenging area of study but is inadequately addressed. Despite efforts mainly in some European nations, a few improvements have been observed in the management of rare cancers. Reasons for this obvious stagnation are multifactorial and are mainly inherent to logistical difficulties in carrying out clinical trials in very small patient populations, hesitation of the pharmaceutical industry to spend in small markets and complexity in creating adequate information for the development of cost-effective drugs. Rare cancers also face specific challenges that include late and incorrect diagnosis, lack of clinical expertise and lack of research interest and development of new therapies. The utilization of nationally representative study findings for the patients’ evaluation may possibly offer chances to find out pathogenesis and prevalence, and this will eventually lead to control and prevention. Currently, advancing targeted therapies offer a great opportunity for the better management of rare cancers. Conducting clinical trials with small patient population, innovative clinical trial approach, prevailing controlling obstacles for international cooperation and financial support for research are the present challenges for rare cancers. The International Rare Cancers Initiative functions as a main platform for achieving new international clinical trials in rare tumours. This review delineates the current challenges and issues in the interpretation, management and research scenarios of rare cancers. PMID:28574010
Primary pleuropulmonary synovial sarcoma with brain metastases in a paediatric patient: an unusual presentation.

PubMed

Chirmade, Pushpak Chandrakant; Parikh, Sonia; Anand, Asha; Panchal, Harsha; Patel, Apurva; Shah, Sandip

2017-01-01

Primary lung neoplasms are rare in children. The most common primary lung malignancies in children are pleuropulmonary blastoma and carcinoid tumour. Synovial sarcoma (SS) accounts for approximately 1% of all childhood malignancies. In absolute terms, the SS of the lungs and pleura are extremely rare and pose a diagnostic difficulty. Soft tissue sarcomas usually have a high potential for metastases, however, metastasis to the brain is rare, even in widely disseminated disease, and it has been described only in 3 case reports previously. Primary pleuropulmonary SS with brain metastases is even rarer. Here we present a case of an 11-year-old boy who presented with respiratory complaints, viz. fever and cough for 20 days. Initial impression was lung abscess, however, on histopathological, immunohistochemical and molecular study, the disorder was diagnosed as synovial sarcoma. After a week from the first consult, the child developed neurological symptoms, viz., an episode of convulsion and gradually worsening power of the lower limb. Computed tomography scan and Magnetic Resonance Spectroscopy was suggestive of brain metastases. Given the rarity of primary lung neoplasms in children, clinical detection remains a challenge. Delayed diagnoses are common as respiratory symptoms may be attributed to inflammatory or infective processes. Primary pleuropulmonary synovial sarcoma is a rare tumour and it is not known to commonly metastasise to the brain. Though rare, primary pleuropulmonary SS should be considered an important differential among peadiatric primary lung neoplasms due to its potential for curability if detected early, and more aggressive metastatic pattern, e.g. brain metastases making early detection imperative.
Malignant pleural mesothelioma in a 17-year old boy: A case report and literature review

PubMed Central

Pérez-Guzmán, C.; Barrera-Rodríguez, R.; Portilla-Segura, J.

2016-01-01

Background Malignant pleural mesothelioma is a rare, invasive and often fatal neoplasm that develops in the thin layer of tissue surrounding the lungs known as the pleura. Although rare, mesotheliomas do occur in the young; their characteristics are distinct from those of older patients. Case presentation This is a case report of a 17-year-old boy who had moderate dyspnea, cough, right-sided pleuritic chest pain, fever, headache and no weight loss. Physical examination showed a right pleural effusion and chest roentgenograms revealed a homogenous opacity on lower right hemithorax. Biochemical analysis of pleural fluid showed hemorrhagic/turbid effusion compatible with exudate. It was initially treated as an empyema. The pleural fluid culture was negative. Adenosine deaminase level was 34.3 U/L (admission) and 19.02 U/L (two weeks after). Pleural fluid smear and culture for Mtb were negative. During the open pleural biopsy, thickened pleura and multiple pale yellow nodules in the lung were observed. The histopathological report was compatible with malignant pleural mesothelioma. With this diagnosis, a chemotherapy regimen with cisplatin was initiated. After two cycles, the patient had no clinical and radiological improvement. The patient is currently under regular follow up. Conclusion MPM is rare in young adults and its clinical presentation makes it different from mesothelioma in elderly patients, so it will be necessary to identify the new risk factors that can identify these patients. PMID:27222787
Extranodal NK÷T-cell lymphoma, nasal type with cutaneous involvement - a rare case associated with chronic C hepatitis and occupational metal dust exposure.

PubMed

Ştefănescu, Eugen Horaţiu; Balica, Nicolae Constantin; Horhat, Ioana Delia; Baderca, Flavia; Pricop, Marius Octavian; Urechescu, Horaţiu Constantin; Lighezan, Daniel Florin; Sarău, Cristian Andrei

2017-01-01

Extranodal natural killer (NK)÷T-cell lymphomas, nasal type are rare and aggressive non-Hodgkin's lymphomas (NHLs), with unknown etiology, rapid evolution and poor prognosis, due to midline tissue destruction and rapid spreading of the tumor. These lymphomas occur commonly in the nasal cavity and upper aerodigestive tract, but can also present involvement of the skin, salivary gland, and testis. We describe a case of nasal type T-cell NHL involving the nasal cavity and determining right thigh cutaneous metastases in a 47-year-old female associated with liver comorbidities and occupational dust exposure. The patient was suffering from chronic type C hepatitis and cirrhosis and she has been occupationally exposed to metal dust for 10 years. Clinical and laboratory investigations were performed. Essential for diagnosis and treatment protocol was nasal endoscopy and biopsy of nasal and cutaneous lesions. The histopathological exam was consistent with NK÷T-cell lymphoma. Patient was diagnosed in Ann Arbor stage IVA. Chemotherapy was initiated with Bleomycin, Etoposide, Adriamycin (Doxorubicin), Cyclophosphamide, Oncovin (Vincristine), Procarbazine and Prednisone, but it was stopped after two cycles because of the liver condition. The treatment plan also included radiotherapy, but soon after initiation, the patient died because of a liver complication. We present a rare case of extranodal NK÷T-cell lymphoma, nasal type, with cutaneous involvement to which the treatment could not be properly applied because of the late diagnosis and liver comorbidities.
Primary anaplastic pilocytic astrocytoma.

PubMed

Azad, A; Deb, S; Cher, L

2009-12-01

We report two adult patients with pilocytic astrocytomas with anaplastic features at initial diagnosis. Pilocytic astrocytomas are low-grade astrocytomas that occur rarely in adults. Initial presentation of a pilocytic astrocytoma with anaplastic features is particularly uncommon and making a definitive diagnosis of pilocytic astrocytoma with anaplastic features can be challenging. It is critical to differentiate glioblastoma (World Health Organization [WHO] grade 4) and pilocytic astrocytoma with anaplastic features (WHO grade 3) from pilocytic astrocytoma (WHO grade 1) as there are significant therapeutic and prognostic implications. Improved therapeutic strategies are required for pilocytic astrocytomas with anaplastic features.
[Keratitis after laser in situ keratomileusis (LASIK). A different entity and treatment management].

PubMed

Ahmed, Shakil; Ahmed, Hassan Javed; Holm, Lars Morten

2014-12-15

Keratitis after laser in situ keratomileusis (LASIK) is rare and challenging as patients may present with mild symptoms and initial management differs significantly. Post-LASIK keratitis is usually due to gram-positive bacteria or opportunistic/atypical microorganisms located beneath the corneal flap. Due to relative protective interface location it is necessary to lift the corneal flap for cultures and antibiotic irrigation. The case report demonstrates that post-LASIK keratitis requires prompt referral to ophthalmology department as correct initial management is pivotal for good visual outcome.

A case of eczematid-like purpura of Doucas and Kapetanakis in a child.

PubMed

Vedak, Priyanka; Nazarian, Rosalynn M; Kroshinsky, Daniela

2015-01-01

Eczematid-like purpura of Doucas and Kapetanakis is a subtype of the pigmented purpuric dermatoses, a group of uncommon dermatoses of unclear etiology characterized by purpura, petechiae, and hyperpigmentation. The Doucas and Kapetanakis subtype is rare in children, and its subtle findings can initially be overlooked and mistaken for other, more common dermatologic disorders in this age group. We present a case eczematid-like purpura of Doucas and Kapetanakis in an 11-year-old boy initially treated as eczema. © 2015 Wiley Periodicals, Inc.
Adult-onset Still's disease initially thought to be an odontogenic infection: A case report.

PubMed

Hino, Shunsuke; Nakamura, Satoshi; Kaneko, Takahiro; Horie, Norio; Shimoyama, Tetsuo

2018-06-01

To present a case of Adult-onset Still's disease (AOSD) initially suspected to be odontogenic inflammation. Adult-onset Still's disease is a rare, complex autoinflammatory disease and a known cause of fever of unknown origin. The patient had both a fever and dental pain. Following meticulous examination, the patient was diagnosed with AOSD. Clinicians should keep in mind that a patient such as AOSD may visit their clinics. © 2018 John Wiley & Sons A/S and The Gerodontology Association. Published by John Wiley & Sons Ltd.
Negligible impact of rare autoimmune-locus coding-region variants on missing heritability.

PubMed

Hunt, Karen A; Mistry, Vanisha; Bockett, Nicholas A; Ahmad, Tariq; Ban, Maria; Barker, Jonathan N; Barrett, Jeffrey C; Blackburn, Hannah; Brand, Oliver; Burren, Oliver; Capon, Francesca; Compston, Alastair; Gough, Stephen C L; Jostins, Luke; Kong, Yong; Lee, James C; Lek, Monkol; MacArthur, Daniel G; Mansfield, John C; Mathew, Christopher G; Mein, Charles A; Mirza, Muddassar; Nutland, Sarah; Onengut-Gumuscu, Suna; Papouli, Efterpi; Parkes, Miles; Rich, Stephen S; Sawcer, Steven; Satsangi, Jack; Simmonds, Matthew J; Trembath, Richard C; Walker, Neil M; Wozniak, Eva; Todd, John A; Simpson, Michael A; Plagnol, Vincent; van Heel, David A

2013-06-13

Genome-wide association studies (GWAS) have identified common variants of modest-effect size at hundreds of loci for common autoimmune diseases; however, a substantial fraction of heritability remains unexplained, to which rare variants may contribute. To discover rare variants and test them for association with a phenotype, most studies re-sequence a small initial sample size and then genotype the discovered variants in a larger sample set. This approach fails to analyse a large fraction of the rare variants present in the entire sample set. Here we perform simultaneous amplicon-sequencing-based variant discovery and genotyping for coding exons of 25 GWAS risk genes in 41,911 UK residents of white European origin, comprising 24,892 subjects with six autoimmune disease phenotypes and 17,019 controls, and show that rare coding-region variants at known loci have a negligible role in common autoimmune disease susceptibility. These results do not support the rare-variant synthetic genome-wide-association hypothesis (in which unobserved rare causal variants lead to association detected at common tag variants). Many known autoimmune disease risk loci contain multiple, independently associated, common and low-frequency variants, and so genes at these loci are a priori stronger candidates for harbouring rare coding-region variants than other genes. Our data indicate that the missing heritability for common autoimmune diseases may not be attributable to the rare coding-region variant portion of the allelic spectrum, but perhaps, as others have proposed, may be a result of many common-variant loci of weak effect.
Juvenile polyposis syndrome

PubMed Central

Hsiao, Yi-Han; Wei, Chin-Hung; Chang, Szu-Wen; Chang, Lung; Fu, Yu-Wei; Lee, Hung-Chang; Liu, Hsuan-Liang; Yeung, Chun-Yan

2016-01-01

Abstract Background: Juvenile polyposis syndrome, a rare disorder in children, is characterized with multiple hamartomatous polyps in alimentary tract. A variety of manifestations include bleeding, intussusception, or polyp prolapse. In this study, we present an 8-month-old male infant of juvenile polyposis syndrome initially presenting with chronic anemia. To the best of our knowledge, this is the youngest case reported in the literature. Methods: We report a rare case of an 8-month-old male infant who presented with chronic anemia and gastrointestinal bleeding initially. Panendoscopy and abdominal computed tomography showed multiple polyposis throughout the entire alimentary tract leading to intussusception. Technetium-99m-labeled red blood cell (RBC) bleeding scan revealed the possibility of gastrointestinal tract bleeding in the jejunum. Histopathological examination on biopsy samples showed Peutz-Jeghers syndrome was excluded, whereas the diagnosis of juvenile polyposis syndrome was established. Results: Enteroscopic polypectomy is the mainstay of the treatment. However, polyps recurred and occupied the majority of the gastrointestinal tract in 6 months. Supportive management was given. The patient expired for severe sepsis at the age of 18 months. Conclusion: Juvenile polyposis syndrome is an inherited disease, so it is not possible to prevent it. Concerning of its poor outcome and high mortality rate, it is important that we should increase awareness and education of the parents at its earliest stages. PMID:27631205
A Case Report Describing a Rare Presentation of Simultaneous Occurrence of MPO-ANCA-Associated Vasculitis and Rheumatoid Arthritis.

PubMed

Foray, Nathalie; Hudali, Tamer; Papireddy, Muralidhar; Gao, John

2016-01-01

Background . Renal-limited myeloperoxidase vasculitis with simultaneous rheumatoid arthritis is reported as a rare occurrence. Review of literature suggests that most patients had a diagnosis of rheumatoid arthritis for several years prior to presenting with renal failure from myeloperoxidase vasculitis. Case Presentation . A 58-year-old Caucasian male presented to the hospital experiencing malaise, fevers, decreased oral intake, nausea, and vomiting for one week duration. His past medical history consisted of newly diagnosed but untreated rheumatoid arthritis, hypertension, and non-insulin-dependent diabetes mellitus. He was found to have acute renal failure, proteinuria, and hypoglycemia. Standard therapy, including intravenous fluids, did not improve his acute renal failure. A vasculitis workup resulted in a positive myeloperoxidase anti-neutrophil cytoplasmic antibody (MPO-ANCA). Renal biopsy revealed crescentic glomerulonephritis (GN) pauci-immune type, suggestive of MPO-ANCA-associated vasculitis (MPO-AAV). Treatment consisted of prednisone, cyclophosphamide, and seven cycles of plasmapheresis, in addition to hemodialysis for uremia. Upon discharge, he received hemodialysis for another week and continued treatment with cyclophosphamide and prednisone. Conclusion . Patients with longstanding rheumatoid arthritis may develop renal failure due to nonsteroidal anti-inflammatory medication use and AA type amyloidosis; however, necrotizing glomerulonephritis with crescent formation has been rarely reported. This stresses the importance of early recognition and swift initiation of treatment.
Risk factors, pathological and phenotypic features of male breast cancer in Greece.

PubMed

Tsoukalas, Nikolaos; Moirogiorgou, Evangelia; Tolia, Maria; Pistamaltzian, Nikolaos; Bournakis, Evangelos; Papadimitriou, Konstantinos; Demiri, Stamatina; Panopoulos, Christos; Koumakis, Georgios; Efremidis, Anna

2014-03-01

Breast cancer (BC) in males is a rare disease and comprises 0.5-1% of all BC cases. Due to its rarity, there are limited data regarding risk factors, biology and relevant treatment. A prospective observational study of demographic, clinical and histological characteristics of serially-admitted men with breast cancer was carried out from 1999 to 2009. Data were recorded and analyzed from a database including 1,315 cases of BC. Registered data concerned age, initial presentation, family and lifestyle history (risk factors), histological features, phenotypic subtypes and TNM staging. Twenty two men with BC were identified, with a median age of 63 years. The most common initial presentation was a palpable lump in 12 patients, nipple contraction in three and ulceration in three. According to their medical history, nine men were overweight, 10 suffered from hypertension and 12 were smokers. The most prevalent phenotype was luminal-A followed by triple-negative type. BC in none of the cases was HER 2-amplified. The majority of cases were grade II or III and stage II or III. In the present small study, we confirm that BC in males is rare. It is a disease of middle-age and presents at advanced stages. Most of patients had 1-3 risk factors for BC. Expression of hormonal receptors occurs in the majority of BC tumors in males and with rarity in HER 2 amplification.
[Central nervous tuberculosis in patients non-VIH: seven case reports].

PubMed

Mazodier, K; Bernit, E; Faure, V; Rovery, C; Gayet, S; Seux, V; Donnet, A; Brouqui, P; Disdier, P; Schleinitz, N; Kaplanski, G; Veit, V; Harlé, J-R

2003-02-01

Tuberculosis involving the central nervous system (CNS) is rarely observed in non immuno-compromised hosts. We report herin the various clinical, biological and radiological manifestations observed in 7 patients with CNS tuberculosis. Clinical and biological records of 7 patients with CNS tuberculosis were retrospectively studied. All patients had encephalic CT-scan and MRI in the course of the disease. 5 women and 2 men with a mean age of 38.4 years initially initially presented with headache (n = 6), fever (n = 5), meningeal irritation (n = 3), localizing neurological signs (n = 1). Lumbar punction revealed lymphocytic meningitis (n = 6/7). Mycobacterium tuberculosis or bovis was isolated in 3 patients only. Cerebral tomodensitography or magnetic resonance imaging were initially normal in most of cases (n = 4/7), but discovered in the course of disease basilar meningitis (n = 6), hydrocephalus (n = 6), abcess or tuberculoma (n = 4). In all the patients, initiation of the treatment was complicated by clinical and/or biological deterioration, called paradoxal reaction, leading in all cases to glucocorticoid adjunction, with various final results. Indeed, 4 patients developed neurological sequelae. No patient died. CNS tuberculosis is a rare disease in non immunocompromised patients whose diagnostic may be difficult due to the absence of specific clinical symptoms, negative initial radiological examination, as well as delayed and often negative bacterial isolation. Paradoxal reaction appeared to be frequent despite specific antibiotherapy and underlines the beneficial effects of addictive corticosteroids.
Primary gastric Burkitt lymphoma: a rare cause of life-threatening haematemesis.

PubMed

Ayoub, Fares; Forde, Justin J; Patel, Niraj; Markham, Merry

2017-08-22

Lymphomas are the second most common gastric malignancy following gastric adenocarcinoma. The majority of gastric lymphomas are either mucosa-associated lymphoid tissue lymphomas or diffuse large B-cell lymphomas. Primary gastric Burkitt lymphoma is a subtype of non-Hodgkin's lymphoma and represents an aggressive and rare malignancy with only a small number of cases reported worldwide. Clinical and radiological presentation is non-specific and mimics other gastric lymphomas. Diagnosis is established with pathological evaluation. Due to the paucity of cases, treatment of this condition is not well studied and is extrapolated from paediatric and adult literature of Burkitt lymphoma not isolated to the stomach. We present the case of a male patient with primary gastric Burkitt lymphoma who initially presented with life-threatening haematemesis, later achieving complete remission with treatment. We discuss the epidemiology, presentation and management of gastric Burkitt lymphoma. © 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.
Pancreatic Calculus Causing Biliary Obstruction: Endoscopic Therapy for a Rare Initial Presentation of Chronic Pancreatitis.

PubMed

Shetty, Anurag J; Pai, C Ganesh; Shetty, Shiran; Balaraju, Girisha

2015-09-01

Biliary obstruction in chronic calcific pancreatitis (CCP) is often caused by inflammatory or fibrotic strictures of the bile duct, carcinoma of head of pancreas or less commonly by compression from pseudocysts. Pancreatic calculi causing ampullary obstruction and leading to obstructive jaundice is extremely rare. The medical records of all patients with CCP or biliary obstruction who underwent endoscopic retrograde cholangiopancreatography (ERCP) over 4 years between 2010-2014 at Kasturba Medical College, Manipal were analyzed. Five patients of CCP with impacted pancreatic calculi at the ampulla demonstrated during ERCP were identified. All 5 presented with biliary obstruction and were incidentally detected to have CCP when evaluated for the same; 3 patients had features of cholangitis. All the patients were managed successfully by endoscopic papillotomy and extraction of pancreatic calculi from the ampulla with resolution of biliary obstruction. Pancreatic calculus causing ampullary obstruction, though very rare, should be considered as a possibility in patients with CCP complicated by biliary obstruction. Endoscopic therapy is affective in the resolution of biliary obstruction in such patients.
Severe subarachnoid hemorrhage associated with cerebral venous thrombosis in early pregnancy: a case report.

PubMed

Yamamoto, Junkoh; Kakeda, Shingo; Takahashi, Mayu; Idei, Masaru; Nakano, Yoshiteru; Soejima, Yoshiteru; Saito, Takeshi; Akiba, Daisuke; Shibata, Eiji; Korogi, Yukunori; Nishizawa, Shigeru

2013-12-01

Cerebral venous thrombosis (CVT) rarely induces subarachnoid hemorrhage (SAH). During late pregnancy and puerperium, CVT is an uncommon but important cause of stroke. However, severe SAH resulting from CVT is extremely rare during early pregnancy. We report on a rare case of severe SAH due to CVT, and discuss the potential pitfalls of CVT diagnosis in early pregnancy. A 32-year-old pregnant woman (9th week of pregnancy) presented with slight head dullness. Initial magnetic resonance imaging (MRI) revealed focal, abnormal signal intensity in the left thalamus. Nine days later, the patient developed a generalized seizure and severe SAH was detected with computed tomography (CT) scan. MRI and cerebral angiography revealed a completely thrombosed superior sagittal sinus, vein of Galen, straight sinus, and right transverse sinus. Transvaginal sonography indicated a missed abortion. The day after admission, the patient presented again with a progressive loss of consciousness and signs of herniation. The patient underwent emergency decompressive craniotomy, followed by intrauterine curettage. Two months later, she made an excellent recovery except for a slight visual field defect. A rare case of severe SAH due to CVT is reported, with emphasis on the potential pitfalls of CVT diagnosis in early pregnancy. Copyright © 2013 Elsevier Inc. All rights reserved.
Does Your Patient’s Urine Turns Dark? Alkaptonuria and Low Back Ache: A Literature Review

PubMed Central

Kanniyan, Kalaivanan; Pathak, Aditya C; Dhammi, Ish Kumar; Jain, Anil Kumar

2014-01-01

Introduction: Alkaptonuria is a very rare inborn error of amino acid metabolism due to deficient homogentisic acid (HGA) oxidase enzyme leading to accumulation of HGA in plasma, cartilage, other tissues of human body and its excretion in urine. It has both systemic and peripheral signs and symptoms. Though low back is a common symptom of alkaptonuria but, in the absence of ochronosis it is rare. Alkaptonuria itself is very rare occurrence with no specific treatment option available to reverse the effect as yet. Case Report: A 38-year-old male, embroidery worker presented with chronic low back ache with history of staining of clothes in infancy. Later on laboratory and the radiological investigation patient was diagnosed to have alkaptonuria without ochronosis. No other systemic manifestation was present. Patient was treated conservatively and responded well. Conclusion: Though alkaptonuria is a very rare disease, and the occurrence of low back-ache in absence of ochronosis is much rarer. One must be aware of this inborn error of metabolism. Early diagnosis though being “diagnosis of exclusion” for low back-ache, high index of suspicion is advantageous as symptomatic treatment of the alkaptonuria can be initiated and evaluation of other systemic organs can be done in early stages itself. PMID:27298997
Positive Gain Spirals at Work: From Job Resources to Work Engagement, Personal Initiative and Work-Unit Innovativeness

ERIC Educational Resources Information Center

Hakanen, Jari J.; Perhoniemi, Riku; Toppinen-Tanner, Salla

2008-01-01

The present cross-lagged panel study aimed to investigate the energizing power of job resources and related gain spirals. Drawing on Hobfoll's Conservation of Resources (COR) theory's rarely tested assumptions of cumulative resource gains and gain spirals a reciprocal process was expected: (1) job resources lead to work engagement and work…
Knowlton's cactus (Pediocactus knowltonii): Eighteen years of monitoring and recovery actions

Treesearch

Robert C. Sivinski; Charlie McDonald

2007-01-01

Pediocactus knowltonii is a rare, endemic cactus that is presently known to occur on a single 10-hectare hill in northwestern New Mexico near the Colorado border. It was listed as federally endangered in 1979. Population monitoring and recovery actions were initiated when the Recovery Plan was adopted in 1985. The land at the type locality has been...
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.
Birt-Hogg-Dubé syndrome: novel FLCN frameshift deletion in daughter and father with renal cell carcinomas.

PubMed

Näf, Ernst; Laubscher, Dominik; Hopfer, Helmut; Streit, Markus; Matyas, Gabor

2016-01-01

Germline mutation of the FLCN gene causes Birt-Hogg-Dubé syndrome (BHD), a rare autosomal dominant condition characterized by skin fibrofolliculomas, lung cysts, spontaneous pneumothorax and renal tumours. We identified a hitherto unreported pathogenic FLCN frameshift deletion c.563delT (p.Phe188Serfs*35) in a family of a 46-year-old woman presented with macrohematuria due to bilateral chromophobe renal carcinomas. A heritable renal cancer was suspected due to the bilaterality of the tumour and as the father of this woman had suffered from renal cancer. Initially, however, BHD was overlooked by the medical team despite the highly suggestive clinical presentation. We assume that BHD is underdiagnosed, at least partially, due to low awareness of this variable condition and to insufficient use of appropriate genetic testing. Our study indicates that BHD and FLCN testing should be routinely considered in patients with positive family or personal history of renal tumours. In addition, we demonstrate how patients and their families can play a driving role in initiating genetic diagnosis, presymptomatic testing of at-risk relatives, targeted disease management, and genetic counselling of rare diseases such as BHD.
Thrombosed Aneurysm of the Posterior Inferior Cerebellar Artery and Lateral Medullary Ischemia as the Initial Presentation of Polyarteritis Nodosa: Case Report and Literature Review.

PubMed

Boukobza, Monique; Dossier, Antoine; Laissy, Jean-Pierre

2018-03-27

A 27-year-old woman with a previously undiagnosed polyarteritis nodosa (PAN) developed lateral medullary stroke related to a thrombosed posterior inferior cerebellar artery (PICA)-origin aneurysm. A concurrent thrombosis of the PICA was identified on high-resolution 3-dimensional CUBE T1 magnetic resonance imaging sequence at 3 T. Body computed tomography angiography, magnetic resonance imaging-magnetic resonance angiography, and digital angiography revealed multiple tiny aneurysms of the visceral arteries and bilateral kidney infarcts. On the basis of these findings and of laboratory data, the patient was diagnosed as having PAN. Intracranial aneurysms (IAs) are extremely rare in PAN and usually manifest as subarachnoid or cerebral hemorrhage. Ischemic manifestation of small thrombosed IA is a rare occurrence. This case highlights (1) an uncommon complication in patients with PAN (16 other cases of IAs in patients with PAN found in the literature), (2) an unusual initial presentation of PAN, and (3) a thrombosed PICA-origin aneurysm responsible for an ischemic stroke and for secondary thrombosis of the parent vessel. Copyright © 2018 National Stroke Association. Published by Elsevier Inc. All rights reserved.
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.
[Skin necrosis during long-term fluindione treatment revealing protein C deficiency].

PubMed

Merklen-Djafri, C; Mazurier, I; Samama, M-M; Alhenc-Gelas, M; Tortel, M-C; Cribier, B; Roth, B; Batard, M-L

2012-03-01

Cutaneous necrosis is a rare complication of vitamin K antagonist therapy. It presents as cutaneous hemorrhagic necrosis and usually occurs at the start of treatment. We describe an atypical case of recurrent skin necrosis after two years of treatment with fluindione. A 70-year old woman with a history of venous thromboembolism and obesity presented with a large haemorrhagic necrosis of the abdominal wall. She had been treated with fluindione for two years. Genetic protein C deficiency was discovered. Resumption of vitamin K antagonist therapy was followed by recurrence of skin necrosis despite concomitant administration of heparin. Treatment with vitamin K antagonists could not be continued. This observation is unusual due to the late onset of skin necrosis. The condition usually begins shortly after initiation of vitamin K antagonist therapy, generally between the third and the sixth day of treatment. It is due to a transient hypercoagulable state in patients with protein C deficiency or, in rare cases, protein S deficiency. This late-onset skin necrosis, occurring many years after initiation of anticoagulant therapy, may be explained by a sudden worsening of pre-existing protein C deficiency due to infectious and iatrogenic factors. Copyright Â© 2011 Elsevier Masson SAS. All rights reserved.
Extensive intramuscular manifestation of sarcoidosis with initially missed diagnosis and delayed therapy: a case report.

PubMed

Meyer, Niklaus; Sutter, Reto; Schirp, Udo; Gutzeit, Andreas

2017-08-24

Sarcoidosis is a multisystemic granulomatous disorder, which in nearly all cases involves the lungs and other organs. Isolated forms of sarcoidosis within the muscles, but without lung involvement, are extremely rare and can lead to delayed or even false diagnosis. A 52-year-old white, Swiss man presented with painful arm cramps and a history of symptoms over the previous 3 years. In the initial clinical investigation, our patient also showed edema in both legs without any other complaints. After performing an magnetic resonance imaging scan of his extremities and a positron emission tomography/computed tomography scan, diffuse myositis was described. The subsequent muscle biopsy provided the surprising diagnosis of muscle sarcoidosis, without involvement of the lungs or any other organ. After starting therapy with glucocorticoids, his symptoms improved immediately. Sarcoidosis is a common disorder, which in most cases affects the lungs. In this case report an isolated sarcoidosis is described without lung involvement, but with involvement of the muscles of the extremities and the trunk. Reported cases of sarcoidosis only involving skeletal muscle and without lung involvement are extremely rare. Radiologists should consider this presentation of sarcoidosis to avoid delayed diagnosis and therapy.
Rare Earth Extraction from NdFeB Magnet Using a Closed-Loop Acid Process.

PubMed

Kitagawa, Jiro; Uemura, Ryohei

2017-08-14

There is considerable interest in extraction of rare earth elements from NdFeB magnets to enable recycling of these elements. In practical extraction methods using wet processes, the acid waste solution discharge is a problem that must be resolved to reduce the environmental impact of the process. Here, we present an encouraging demonstration of rare earth element extraction from a NdFeB magnet using a closed-loop hydrochloric acid (HCl)-based process. The extraction method is based on corrosion of the magnet in a pretreatment stage and a subsequent ionic liquid technique for Fe extraction from the HCl solution. The rare earth elements are then precipitated using oxalic acid. Triple extraction has been conducted and the recovery ratio of the rare earth elements from the solution is approximately 50% for each extraction process, as compared to almost 100% recovery when using a one-shot extraction process without the ionic liquid but with sufficient oxalic acid. Despite its reduced extraction efficiency, the proposed method with its small number of procedures at almost room temperature is still highly advantageous in terms of both cost and environmental friendliness. This study represents an initial step towards realization of a closed-loop acid process for recycling of rare earth elements.

Bilateral silent sinus syndrome: A rare case and review of literature.

PubMed

Trope, Michal; Schwartz, Joseph S; Tajudeen, Bobby A; Kennedy, David W

2017-06-01

In this report, we presented a rare case of bilateral silent sinus syndrome (SSS) in an otherwise healthy 57-year-old man treated with functional endoscopic sinus surgery (FESS). A systematic review of the literature regarding bilateral SSS was performed. A 57-year-old man with well-controlled allergic rhinitis in the absence of previous surgery or trauma presented with bilateral SSS, which was successfully managed with bilateral FESS. A medical literature data base search of the terms "silent sinus syndrome" "maxillary atelectasis," "imploding antrum syndrome," and "bilateral silent sinus syndrome" was performed. The results were then narrowed to include only relevant articles. Relevant articles included three case reports and two articles that describe or mention bilateral SSS. Of the three case reports found, two patients presented with bilateral SSS, whereas the third patient presented metachronously, with the contralateral SSS manifesting 4 months after presentation of the initial ipsilateral SSS. The present literature regarding bilateral SSS is likely incomplete, and further investigation is required to provide greater insight into the prevalence of this disease. In this report, bilateral FESS was successful in resolving symptoms and preventing disease progression.
Saphenous vein graft aneurysm fistula formation causing right heart failure: an unusual presentation.

PubMed

Boon, K J; Arshad, M A; Singh, H; Lainchbury, J G; Blake, J W H

2015-11-01

Saphenous vein graft aneurysm (SVG) formation after coronary artery bypass grafting is a rare complication of the surgery. We present a case of a 68-year-old man with an unusual presentation of such an aneurysm. Thirty-four years after his initial bypass surgery, the patient presented with a fistula formation into his right atrium from a vein graft aneurysm. Late aneurysm formation is thought to occur secondary to atherosclerotic degeneration of the SVG with background hypertension and dyslipidaemia accelerating the process. Diagnostic modalities used to investigate SVG aneurysms include computed tomography, transthoracic echocardiogram, magnetic resonance imaging and cardiac catheterisation. Aneurysms with fistula formation historically require aggressive surgical intervention. Resection of the aneurysm with subsequent revascularisation if required is the surgical norm. SVG aneurysm with fistula formation into a cardiac chamber is a rare complication of coronary artery bypass grafting (CABG), which can occur with atypical presenting symptoms. Physicians should keep in mind the possibility of this occurring in post-CABG patients presenting with heart failure and a new murmur. © 2015 Royal Australasian College of Physicians.
Airway management in laryngotracheal injuries from blunt neck trauma in children.

PubMed

Chatterjee, Debnath; Agarwal, Rita; Bajaj, Lalit; Teng, Sarena N; Prager, Jeremy D

2016-02-01

Pediatric laryngotracheal injuries from blunt neck trauma are extremely rare, but can be potentially catastrophic. Early diagnosis and skillful airway management is critical in avoiding significant morbidity and mortality associated with these cases. We present a case of a patient who suffered a complete tracheal transection and cervical spine fracture following a clothesline injury to the anterior neck. A review of the mechanisms of injury, clinical presentation, initial airway management, and anesthetic considerations in laryngotracheal injuries from blunt neck trauma in children are presented. © 2015 John Wiley & Sons Ltd.
Ewing's sarcoma of the patella.

PubMed

Gorelik, Natalia; Dickson, Brendan C; Wunder, Jay S; Bleakney, Robert

2013-05-01

Ewing's sarcoma is a relatively rare malignancy, occurring mainly between 4 and 25 years of age. It usually arises from the pelvis, followed by the femur, tibia, and remainder of both the long bones of the extremities and flat bones of the axial skeleton. To the best of our knowledge, Ewing's sarcoma of the patella has never been reported previously. Patellar tumors occur infrequently and represent an uncommon etiology of anterior knee pain. We describe the rare case of a 41-year-old man who presented with a 3-4 month history of escalating right anterior knee pain and swelling. Imaging demonstrated an aggressive patellar tumor with an adjacent soft tissue mass. The diagnosis of Ewing's sarcoma was confirmed by pathology. Physicians should be aware of atypical locations for Ewing's sarcoma and, conversely, of rare tumors arising in the patella and accounting for anterior knee pain. Early recognition of such malignancies allows prompt initiation of treatment, hence improving prognosis.
Generalized subcutaneous edema as a rare manifestation of dermatomyositis: clinical lesson from a rare feature.

PubMed

Haroon, Muhammad; Eltahir, Ahmed; Harney, Sinead

2011-04-01

Generalized subcutaneous edema is a very rare manifestation of inflammatory myopathies. A 61-year-old woman presented with classic signs and symptoms of dermatomyositis. She was also noted to have generalized edema that was so florid that an alternative diagnosis was considered. Her disease was resistant to corticosteroids, azathioprine, and mycophenolate mofetil. Intravenous administration of immunoglobulins was started because of marked worsening of her disease-muscle weakness, generalized anasarca, and involvement of her bulbar muscles. This led to dramatic resolution of her subcutaneous edema and significant improvement of her skin and muscle disease. As the initial screen for malignancy was negative, a positron emission tomography-computed tomography scan was requested, which interestingly showed a metabolically active cervical tumor. Anasarca is an unusual manifestation of dermatomyositis. In treatment-refractory cases, it seems reasonable to consider positron emission tomography scan in excluding underlying malignant disease.
Serial magnetic resonance imaging findings in subarachnoid hemorrhage due to an initially angiographically occult type II spinal aneurysm: Case report.

PubMed

Kogan, Michael; Morr, Simon; Siddiqui, Adnan H

2017-04-28

Spinal aneurysms are rare causes of spontaneous subarachnoid hemorrhage. We present an unusual, initially occult, case of an upper thoracic intradural extramedullary isolated aneurysm arising from the T2 intercostal-radicular circulation that was initially angiographically occult but was discovered due to unique, albeit nonspecific, magnetic resonance imaging findings of spinal cord T2 hyperintensity and contrast enhancement that were noted to progress with a clinical picture of ictal rehemorrhage. Repeat spinal angiography revealed a spinal aneurysm that was treated surgically. In cases of sufficient clinical suspicion and nonspecific imaging findings, continued vigilance is advised in seeking an underlying pathoanatomic etiology.
Artery of Percheron: an unusual stroke presentation.

PubMed

Pitts-Tucker, Toby; Small, Jeremy

2018-03-28

An 86-year-old woman was admitted with multiple episodes of transient loss of consciousness. She was initially treated for seizures, and stroke was not considered likely. MRI on the same day of admission showed acute bilateral medial thalamic infarcts in keeping with the Artery of Percheron (AOP) territory infarcts. Investigation for polycythaemia and thrombocytosis showed JAK2 positive myeloproliferative neoplasm.A diagnosis of AOP infarction is often missed or delayed because it is rare and presents with variable neurological symptoms. Initial imaging in the form of CT is often negative, and some report that initial MRI findings may also be normal.An awareness of a wide range of differential diagnoses alongside a multi-modality imaging approach is required to reach a diagnosis.Although there are several other case reports of AOP infarction in the literature, this is the first to present with transient symptoms initially mistaken for seizure activity. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.
Characterizing rare-event property distributions via replicate molecular dynamics simulations of proteins.

PubMed

Krishnan, Ranjani; Walton, Emily B; Van Vliet, Krystyn J

2009-11-01

As computational resources increase, molecular dynamics simulations of biomolecules are becoming an increasingly informative complement to experimental studies. In particular, it has now become feasible to use multiple initial molecular configurations to generate an ensemble of replicate production-run simulations that allows for more complete characterization of rare events such as ligand-receptor unbinding. However, there are currently no explicit guidelines for selecting an ensemble of initial configurations for replicate simulations. Here, we use clustering analysis and steered molecular dynamics simulations to demonstrate that the configurational changes accessible in molecular dynamics simulations of biomolecules do not necessarily correlate with observed rare-event properties. This informs selection of a representative set of initial configurations. We also employ statistical analysis to identify the minimum number of replicate simulations required to sufficiently sample a given biomolecular property distribution. Together, these results suggest a general procedure for generating an ensemble of replicate simulations that will maximize accurate characterization of rare-event property distributions in biomolecules.
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.
Autosomal dominant distal myopathy due to a novel ACTA1 mutation.

PubMed

Liewluck, Teerin; Sorenson, Eric J; Walkiewicz, Magdalena A; Rumilla, Kandelaria M; Milone, Margherita

2017-08-01

Mutations in skeletal muscle α-actin 1-encoding gene (ACTA1) cause autosomal dominant or recessive myopathies with marked clinical and pathological heterogeneity. Patients typically develop generalized or limb-girdle pattern of weakness, but recently a family with scapuloperoneal myopathy was reported. We describe a father and 2 children with childhood-to-juvenile onset distal myopathy, carrying a novel dominant ACTA1 variant, c.757G>C (p.Gly253Arg). Father had delayed motor development and developed significant proximal weakness later in life; he was initially misdiagnosed as having spinal muscular atrophy based on electromyographic findings. His children had predominant anterior distal leg and finger extensor involvement. Nemaline rods were abundant on the daughter's biopsy, absent on the father's initial biopsy, and extremely rare on the father's subsequent biopsy a decade later. The father's second biopsy also showed myofibrillar pathology and rare fibers with actin filament aggregates. The present family expands the spectrum of actinopathy to include a distal myopathy. Copyright © 2017 Elsevier B.V. All rights reserved.
Collagenous gastritis.

PubMed

Jin, Xiaoyi; Koike, Tomoyuki; Chiba, Takashi; Kondo, Yutaka; Ara, Nobuyuki; Uno, Kaname; Asano, Naoki; Iijima, Katsunori; Imatani, Akira; Watanabe, Mika; Shirane, Akio; Shimosegawa, Tooru

2013-09-01

In the present paper, we report a case of rare collagenous gastritis. The patient was a 25-year-old man who had experienced nausea, abdominal distention and epigastralgia since 2005. Esophagogastroduodenoscopy (EGD) carried out at initial examination by the patient's local doctor revealed an extensively discolored depression from the upper gastric body to the lower gastric body, mainly including the greater curvature, accompanied by residual mucosa with multiple islands and nodularity with a cobblestone appearance. Initial biopsies sampled from the nodules and accompanying atrophic mucosa were diagnosed as chronic gastritis. In August, 2011, the patient was referred to Tohoku University Hospital for observation and treatment. EGD at our hospital showed the same findings as those by the patient's local doctor. Pathological findings included a membranous collagen band in the superficial layer area of the gastric mucosa, which led to a diagnosis of collagenous gastritis. Collagenous gastritis is an extremely rare disease, but it is important to recognize its characteristic endoscopic findings to make a diagnosis. © 2012 The Authors. Digestive Endoscopy © 2012 Japan Gastroenterological Endoscopy Society.
CNV analysis in 169 patients with bladder exstrophy-epispadias complex.

PubMed

von Lowtzow, Catharina; Hofmann, Andrea; Zhang, Rong; Marsch, Florian; Ebert, Anne-Karoline; Rösch, Wolfgang; Stein, Raimund; Boemers, Thomas M; Hirsch, Karin; Marcelis, Carlo; Feitz, Wouter F J; Brusco, Alfredo; Migone, Nicola; Di Grazia, Massimo; Moebus, Susanne; Nöthen, Markus M; Reutter, Heiko; Ludwig, Michael; Draaken, Markus

2016-04-30

The bladder exstrophy-epispadias complex (BEEC) represents the severe end of the congenital uro-rectal malformation spectrum. Initial studies have implicated rare copy number variations (CNVs), including recurrent duplications of chromosomal region 22q11.21, in BEEC etiology. To detect further CNVs, array analysis was performed in 169 BEEC patients. Prior to inclusion, 22q11.21 duplications were excluded using multiplex ligation-dependent probe amplification. Following the application of stringent filter criteria, seven rare CNVs were identified: n = 4, not present in 1307 in-house controls; n = 3, frequency of <0.002 in controls. These CNVs ranged from 1 to 6.08 Mb in size. To identify smaller CNVs, relaxed filter criteria used in the detection of previously reported BEEC associated chromosomal regions were applied. This resulted in the identification of six additional rare CNVs: n = 4, not present in 1307 in-house controls; n = 2, frequency <0.0008 in controls. These CNVs ranged from 0.03-0.08 Mb in size. For 10 of these 13 CNVs, confirmation and segregation analyses were performed (5 of maternal origin; 5 of paternal origin). Interestingly, one female with classic bladder extrophy carried a 1.18 Mb duplication of 22q11.1, a chromosomal region that is associated with cat eye syndrome. A number of rare CNVs were identified in BEEC patients, and these represent candidates for further evaluation. Rare inherited CNVs may constitute modifiers of, or contributors to, multifactorial BEEC phenotypes.
Thyrotoxic hypokalemic periodic paralysis in a Hispanic male.

PubMed Central

Zumo, Lawrence A.; Terzian, Christian; Brannan, Timothy

2002-01-01

We report a case of a Hispanic male presenting with acute onset of bilateral lower extremity weakness, without any antecedent viral or bacterial illness, dietary changes, infiltrative orbitopathy, diffuse goiter, infiltrative dermopathy, and family history of periodic paralysis, who was later found to have Graves' disease. This demonstrates a rare case of periodic paralysis as the initial presentation of hyperthyroidism. Thyrotoxic hypokalemic periodic paralysis is common in Asian and Hispanic individuals and uncommon in whites and African Americans. PMID:12069220
An unusual case of chronic lateral foot pain following ankle inversion injury: osteoid osteoma of the tarsal cuboid bone.

PubMed

Aydogan, Umur; Dellenbaugh, Samuel G

2014-04-01

Osteoid osteomas are common benign tumors normally seen in the femur, tibia, and spine. They rarely are seen in the foot. We present an unusual case of osteoid osteoma of the cuboid in a 26-year-old man. This was initially thought to be an ankle sprain, as its first presentation was after a sporting injury. It was then treated as an infection before the true diagnosis--that of osteoid osteoma--was obtained.
Carotid body tumor imitator: An interesting case of Castleman's disease.

PubMed

Shakir, Hakeem J; Diletti, Sara M; Hart, Alexandra M; Meyers, Joshua E; Dumont, Travis M; Siddiqui, Adnan H

2015-01-01

There are very few reports in the literature of Castleman's disease affecting the carotid artery and a single previous report of a case of Castleman's disease of the neck originally mistaken as a carotid body tumor. We describe a rare case of Castleman's disease, manifesting with classic radiographic hallmarks of a carotid body tumor. The postoperative pathologic examination identified the resected mass as Castleman's lymphadenopathy. The management of this particular case is discussed, and the findings are highlighted. We present a unique case of a tumor initially and incorrectly diagnosed as a carotid body tumor. However, after comprehensive treatment with endovascular and surgical modalities and subsequent pathologic examination, the diagnosis of this rare entity was made.
A different kind of Christmas tree: anomalous origin of the right coronary artery from the pulmonary artery (ARCAPA).

PubMed

Afolabi-Brown, Olayinka; Witzke, Christian; Moldovan, Raul; Pressman, Gregg

2014-02-01

Anomalous right coronary artery from the pulmonary artery (ARCAPA) is a rare congenital coronary anomaly that has an incidence of 0.002%. We report a case of a previously healthy female who presented to our hospital with pneumonia and was incidentally discovered to have ARCAPA. This was initially diagnosed on echocardiography by the unusual echocardiographic finding of multiple color flow Doppler signals around the right ventricular free wall and apex which were subsequently confirmed by angiography to be due to extensive collateral circulation between the left and right coronary arteries. This represents an unusual echocardiographic manifestation of this very rare condition. © 2013, Wiley Periodicals, Inc.
Necrotizing Fasciitis of the lower extremity: a case report and current concept of diagnosis and management

PubMed Central

Naqvi, GA; Malik, SA; Jan, W

2009-01-01

Necrotizing fasciitis is a severe soft tissue infection characterized by rapidly progressing necrosis, involving subcutaneous tissues. This rare condition carries high mortality rate and require prompt diagnosis and urgent treatment with radical debridement and antibiotics. We describe a case of 21-year old man who presented with the history of trivial injury to the knee. Initially he was admitted and treated for septic arthritis but later was diagnosed as necrotizing fasciitis which was successfully treated with no ill effects what so ever from this devastating condition. This rare condition has been reported in literature but still early diagnosis, which is a key for successful treatment, remains a challenge. PMID:19527519
Plexiform schwannoma: an unusual clitoral mass.

PubMed

Sammarco, Anne G; Abualnadi, Noor M; Andraska, Elizabeth A; Tracy, Paige V; Berger, Mitchell B; Haefner, Hope K

2017-03-01

Acquired clitoral enlargement is a rare condition resulting from a variety of etiologies, including tumors and excess androgens. Few cases of nonmalignant schwannoma, a benign tumor of the peripheral nerve sheath, have been reported in the literature as causes of clitoral enlargement in patients without known neurofibromatosis. These painless, slow-growing tumors rarely recur once excised. We present the initial investigation of a patient with a large clitoral schwannoma and subsequent treatment with partial vulvectomy. The workup, including advanced pelvic imaging for diagnosis and surgical planning, as well as removal of the clitoral tumor with preservation of functional tissue and restoration of normal vulvar anatomy despite a large excision, is demonstrated. Copyright © 2016 Elsevier Inc. All rights reserved.
An 18-year-old patient with Prader-Willi syndrome: a case report on dental management under sedation and general anesthesia.

PubMed

Song, Ki Un; Nam, Ok Hyung; Kim, Mi Sun; Choi, Sung Chul; Lee, Hyo-Seol

2015-12-01

Prader-Willi syndrome (PWS) is a rare genetic disorder reported rarely in dentistry. Dental practitioners should know the features of PWS because affected patients have a variety of dental symptoms. The current report describes a case of PWS. An 18-year-old male patient presented with traumatic injuries. Initial emergency treatments were performed under sedation, and further treatments were conducted under general anesthesia. After adequate healing, periodic follow-up and dietary management according to the patient's age and nutritional phase were recommended. Dental management of PWS patients consists of active preventive measures in addition to dietary consultation according to age and nutritional phase.
Imaging Characteristics of Dural Arteriovenous Fistulas Involving the Vein of Galen: A Comprehensive Review.

PubMed

Kassem, Mohammad W; Choi, Paul J; Iwanaga, Joe; Mortazavi, Martin M; Tubbs, R Shane

2018-02-11

Vein of Galen aneurysmal malformation (VGAM) is a rare angiopathy, which most commonly presents in infancy. Although very rare, it is associated with high morbidity and mortality rates. In order to minimize such morbid rates, a prompt diagnosis followed by a timely initiation of management is crucial. Multiple antenatal and postnatal imaging techniques for the diagnosis have been described and discussed in the literature. However, to our knowledge, a comprehensive review exploring such a list of imaging options for VGAM has never been established. We aim to review the diagnostic tools to aid in better understanding of the investigative modalities physicians may choose from when treating patients with a VGAM.

Imaging Characteristics of Dural Arteriovenous Fistulas Involving the Vein of Galen: A Comprehensive Review

PubMed Central

Kassem, Mohammad W; Iwanaga, Joe; Mortazavi, Martin M; Tubbs, R. Shane

2018-01-01

Vein of Galen aneurysmal malformation (VGAM) is a rare angiopathy, which most commonly presents in infancy. Although very rare, it is associated with high morbidity and mortality rates. In order to minimize such morbid rates, a prompt diagnosis followed by a timely initiation of management is crucial. Multiple antenatal and postnatal imaging techniques for the diagnosis have been described and discussed in the literature. However, to our knowledge, a comprehensive review exploring such a list of imaging options for VGAM has never been established. We aim to review the diagnostic tools to aid in better understanding of the investigative modalities physicians may choose from when treating patients with a VGAM. PMID:29657906
Successful Resection of a Growing Distal Medial Lenticulostriate Artery Pseudoaneurysm Presenting with Isolated Intraventricular Hemorrhage.

PubMed

Sato, Yosuke; Ando, Kazuhiro; Kawaguchi, Makoto; Kakinuma, Kenichi

2017-10-01

Distal medial lenticulostriate artery (LSA) aneurysms associated with isolated intraventricular hemorrhage (IVH) are extremely rare. We report a very rare case of the isolated IVH due to the rupture of the distal medial LSA pseudoaneurysm that was not visible at the initial angiography but later emerged and grew. A 61-year-old woman with a history of hypertension had sudden onset of severe headache and mild consciousness disturbance. The computed tomography scan revealed the IVH, but the initial angiographies showed no evidence of aneurysm. The follow-up magnetic resonance imaging revealed that an intraventricular mass, arising from the right distal medial LSA, emerged and grew into the right anterior horn. Considering the risk of rebleeding, we resected the mass lesion via the transsulcal transventricular approach. The postoperative imaging showed complete obliteration of the mass lesion. Histopathological analysis indicated the pseudoaneurysm. The patient was discharged without any neurological deficit. The careful and repetitive follow-up imaging should be done in the cases with isolated IVH even if the initial image evaluations are unrevealing. The transsulcal transventricular approach can be the most minimally invasive surgical option for intraventricular lesion. Copyright © 2017 National Stroke Association. Published by Elsevier Inc. All rights reserved.
Synchronous Pulmonary Malignancies: Atypical Presentation of Mantle Cell Lymphoma Masking a Lung Malignancy

PubMed Central

Masha, Luke; Zinchuk, Andrey; Boosalis, Valia

2015-01-01

We present a case of a pleural space malignancy masked by an atypical presentation of mantle cell lymphoma. Our patient presented with a large pleural effusion and right sided pleural studding, initially attributed to a new diagnosis of mantle cell lymphoma. Rare atypical epithelial cells were also seen amongst the clonal population of lymphocytes. The patient lacked systemic manifestations of mantle cell lymphoma and did not improve with chemotherapy. A pleural biopsy ultimately revealed the presence of an undifferentiated carcinoma, favoring a lung primary. A discussion of synchronous pleural space malignancies involving lymphomas is given. PMID:26500732
Synchronous Pulmonary Malignancies: Atypical Presentation of Mantle Cell Lymphoma Masking a Lung Malignancy.

PubMed

Masha, Luke; Zinchuk, Andrey; Boosalis, Valia

2015-09-07

We present a case of a pleural space malignancy masked by an atypical presentation of mantle cell lymphoma. Our patient presented with a large pleural effusion and right sided pleural studding, initially attributed to a new diagnosis of mantle cell lymphoma. Rare atypical epithelial cells were also seen amongst the clonal population of lymphocytes. The patient lacked systemic manifestations of mantle cell lymphoma and did not improve with chemotherapy. A pleural biopsy ultimately revealed the presence of an undifferentiated carcinoma, favoring a lung primary. A discussion of synchronous pleural space malignancies involving lymphomas is given.
Diplopia as the primary presentation of foodborne botulism.

PubMed

Khakshoor, Hamid; Moghaddam, Ali Akbar Saber; Vejdani, Amir Hossein; Armstrong, Blair K; Moshirfar, Majid

2012-05-01

Foodborne botulism is a serious condition caused by Clostridium botulinum neurotoxin. Clinically, botulism presents as bilateral cranial nerve neuropathy and descending paralysis. We report a unique presentation of botulism to remind clinicians of this potentially fatal condition. In this observational case report initial evaluation showed only esodeviation. This progressed to unilateral cranial nerve six (CN VI) paresis along with systemic signs. Clinical diagnosis was made based on in-depth history and concurrent symptoms in three other patients. Foodborne botulism presenting as diplopia and unilateral motility deficits is rare and can represent a diagnostic and therapeutic challenge to the ophthalmologist.
Diplopia as the primary presentation of foodborne botulism

PubMed Central

Khakshoor, Hamid; Moghaddam, Ali Akbar Saber; Vejdani, Amir Hossein; Armstrong, Blair K.; Moshirfar, Majid

2012-01-01

Foodborne botulism is a serious condition caused by Clostridium botulinum neurotoxin. Clinically, botulism presents as bilateral cranial nerve neuropathy and descending paralysis. We report a unique presentation of botulism to remind clinicians of this potentially fatal condition. In this observational case report initial evaluation showed only esodeviation. This progressed to unilateral cranial nerve six (CN VI) paresis along with systemic signs. Clinical diagnosis was made based on in-depth history and concurrent symptoms in three other patients. Foodborne botulism presenting as diplopia and unilateral motility deficits is rare and can represent a diagnostic and therapeutic challenge to the ophthalmologist. PMID:22993467
Nasopharyngeal carcinoma presented as cavernous sinus tumour.

PubMed

Moona, Mohammad Shafi; Mehdi, Itrat

2011-12-01

A 32 year Libyan male presented with the complaints of headache and diplopia. He was diagnosed with a cavernous sinus meningioma on the basis of MRI findings but no initial biopsy was taken. Depending on the radiologic diagnosis the patient was treated with gamma knife surgery twice, abroad. During follow up he developed left ear deafness and left cervical lymph adenopathy. An ENT evaluation with biopsy from the nasopharynx and cervical lymph node was taken. The histopathologic diagnosis of the resected tumour showed a nasopharyngeal carcinoma with cervical lymph node metastasis (poorly differentiated lympho-epithelial carcinoma). The cavernous sinus tumour which was initially treated as a meningioma was in fact metastasis from the nasopharyngeal carcinoma, making this an interesting and rare occurrence.
Recurrent intramedullary epidermoid cyst of conus medullaris

PubMed Central

Fleming, Christina; Kaliaperumal, Chandrasekaran; O’Sullivan, Michael

2011-01-01

Spinal intramedullary epidermoid cyst is a rare condition. Recurrent epidermoid cyst in the spine cord is known to occur. The authors describe a case of recurrent conus medullaris epidermoid cyst in a 24-year-old female. She initially presented at 7 years of age with bladder disturbance in the form of diurnal enuresis and recurrent urinary tract infection. MRI lumbar spine revealed a 4 cm conus medullaris epidermoid cyst. Since the initial presentation, the cyst had recurred seven times in the same location and she underwent surgical intervention in the form of exploration and debulking. This benign condition, owing to its anatomical location, has posed a surgical and overall management challenge. This occurrence is better managed in a tertiary-care centre requiring multi-disciplinary treatment approach. PMID:22669964
Severe pulmonary hypertension as the initial manifestation of systemic lupus erythematosus: a case report and review of the literature.

PubMed

Prete, M; Fatone, M C; Vacca, A; Racanelli, V; Perosa, F

2014-01-01

Severe pulmonary arterial hypertension (PAH) is rarely observed as the initial manifestation of systemic lupus erythematosus (SLE), and the diagnosis is often delayed. Here we present the case of a 32-year-old woman with severe PAH as the initial manifestation of SLE, who was successfully treated with mycophenolate mofetil and cyclosporine. This case offered the opportunity to critically review the epidemiology data, predictive markers, and pathogenic pathways of SLE-associated PAH (SLE-PAH) in relation to the currently available therapeutic options and to the main clinical trials of the last 10 years focused on the treatment of SLE-PAH. Mycophenolate mofetil and cyclosporine - currently used in the maintenance phase of the disease in certain clinical settings - should be considered, as an alternative to cyclophosphamide, in future clinical trials aimed at evaluating the most effective treatment of SLE-PAH at presentation.
Myotonic Dystrophy Initially Presenting as Tachycardiomyopathy Successful Catheter Ablation of Atrial Flutter

PubMed Central

Asbach, S.; Gutleben, K. J.; Dahlem, P.; Brachmann, J.; Nölker, G.

2010-01-01

Myotonic dystrophy is a genetic muscular disease that is frequently associated with cardiac arrhythmias. Bradyarrhythmias, such as sinus bradycardia and atrioventricular block, are more common than tachyarrhythmias. Rarely, previously undiagnosed patients with myotonic dystrophy initially present with a tachyarrhythmia. We describe the case of a 14-year-old boy, who was admitted to the hospital with clinical signs and symptoms of decompensated heart failure and severely reduced left ventricular function. Electrocardiography showed common-type atrial flutter with 2 : 1 conduction resulting in a heart rate of 160 bpm. Initiation of medical therapy for heart failure as well as electrical cardioversion led to a marked clinical improvement. Catheter ablation of atrial flutter was performed to prevent future cardiac decompensations and to prevent development of tachymyopathy. Left ventricular function normalized during followup. Genetic analysis confirmed the clinical suspicion of myotonic dystrophy as known in other family members in this case. PMID:20871860
Undetected penetrating bladder injuries presenting as a spontaneously expulsed bullet during voiding: a rare entity and review of the literature.

PubMed

Kuy, SreyRam; Somberg, Lewis B; Paul, Jasmeet; Brown, Nathaniel; Saving, Allegra; Codner, Panna A

2013-09-01

Patients presenting with a penetrating missile lodged in the pelvis are at risk for having a urinary tract injury. Once in the bladder, the missile can become impacted in the urethra, causing retention that requires extraction. Rarely, the missile can be expulsed spontaneously through the urethra. To describe the world literature regarding undetected penetrating bladder injuries presenting as spontaneously voided bullets and to contribute an additional case to the literature. We present a case report of a 37-year-old man who sustained a gunshot wound to the right buttock, with an undetected urinary system injury and subsequent spontaneous voiding of a bullet. There have been <10 cases reported in the literature of spontaneously expulsed bullets from the urethra, all of which were undetected injuries on initial presentation. Physicians should be aware of the potential for undetected urinary tract injuries in patients with penetrating missiles to the pelvis and understand the appropriate evaluation and management strategies for these injuries. Copyright © 2013 Elsevier Inc. All rights reserved.
Design, fabrication and testing of an optical temperature sensor

NASA Technical Reports Server (NTRS)

Morey, W. W.; Glenn, W. H.; Decker, R. O.; Mcclurg, W. C.

1980-01-01

The laboratory breadboard optical temperature sensor based on the temperature dependent absorptive characteristics of a rare earth (europium) doped optical fiber. The principles of operation, materials characterization, fiber and optical component design, design and fabrication of an electrooptic interface unit, signal processing, and initial test results are discussed. Initial tests indicated that, after a brief warmup period, the output of the sensor was stable to approximately 1 C at room temperature or approximately + or - 0.3 percent of point (K). This exceeds the goal of 1 percent of point. Recommendations are presented for further performance improvement.
A progressive breakdown of the body in space.

PubMed

Kourtidou, Evie; Kasselimis, Dimitrios; Makrydakis, George; Chatziantoniou, Lina; Kyrozis, Andreas; Evdokimidis, Ioannis; Potagas, Constantin

2018-06-08

A 74 year-old woman (MD), free of previous neurological history, presented with difficulty in handling cutlery, clothes, writing with what was initially described as an atypical apraxia in acts related to space. Initial neurological evaluation revealed mixed, asymmetric pyramidal, and extrapyramidal semiology. Νeuropsychological testing revealed dressing and constructional deficits, ideomotor apraxia and signs of executive dysfunction in absence of memory, language, and visual perception pathology. The final diagnosis was that of a corticobasal degeneration, where the rare occurrence of a progressively emerging syndrome of self-management loss within peripersonal space is observed.
An initially unidentified case of urinary tract infection due to Aerococcus urinae.

PubMed

Meletis, Georgios; Chatzidimitriou, Dimitrios; Tsingerlioti, Fani; Chatzopoulou, Fani; Tzimagiorgis, Georgios

2017-07-01

Aerococcus urinae is a microorganism responsible for urinary tract and blood stream infections which are rarely reported in clinical practice. However, it has been proposed that the infrequency of such reports may be partially due to difficulties related to pathogen identification. We present here a case of an elderly male patient with urinary tract infection where A. urinae was initially not identified by a private microbiology laboratory. Our report highlights the need to consider A. urinae as a causative agent of urinary tract infections because if not identified and properly treated it may lead to endocarditis or septicemia.
Case report of an 11-year-old child with a nonfunctional malignant pheochromocytoma.

PubMed

Holwitt, Dana; Neifeld, James; Massey, Gita; Lanning, David

2007-11-01

Pheochromocytoma is an unusual cause of surgical hypertension and is extremely rare in the pediatric population. We present a case of a hypertension-producing malignant pheochromocytoma in an 11-year-old, which was initially unresectable. The tumor responded partially to aggressive chemotherapy and was completely resected. This approach highlights the importance of multidisciplinary care for patients with large pheochromocytomas.
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.
Recurrent menstrual toxic shock syndrome despite discontinuation of tampon use: is menstrual toxic shock syndrome really caused by tampons?

PubMed

Dixit, Shreya; Fischer, Gayle; Wittekind, Carola

2013-11-01

Menstrual toxic shock syndrome (MTSS) is a rare and potentially life-threatening illness. We present a case of recurrent MTSS initially associated with tampon use that continued to recur when tampons were discontinued, which was successfully treated with rifampicin and clindamycin. © 2012 The Authors Australasian Journal of Dermatology © 2012 The Australasian College of Dermatologists.
Late-onset hydroa vacciniforme: two case reports.

PubMed

Wong, S N; Tan, S H; Khoo, S W

2001-04-01

Hydroa vacciniforme (HV) is a rare blistering photodermatosis that heals with vacciniform scarring, with onset usually in childhood and spontaneous resolution by early adulthood. We report two cases of HV seen at the National Skin Centre, Singapore, both with a late onset at 20 years of age, during compulsory military service, and one with a less typical non-vesicular presentation, that initially caused some diagnostic difficulties.
Cerebral Paragonimiasis Presenting with Sudden Death

PubMed Central

Amaro, Deirdre E.; Cowell, Annie; Tuohy, Marion J.; Procop, Gary W.; Morhaime, Jacquelyn; Reed, Sharon L.

2016-01-01

A 58-year-old Korean-born woman with a history of seizures and psychiatric issues was found dead at home. Autopsy was notable for large, calcified nodules that had nearly replaced her right temporal lobe. Histologic examination revealed the presence of Paragonimus eggs. This case demonstrates a rare manifestation of an aberrantly migrated lung fluke that resulted in epilepsy and sudden death years after the initial infection. PMID:27928089
Chronic granulomatous otitis externa as an initial presentation of cutaneous Crohn disease.

PubMed

Raynor, Eileen M

2014-08-01

In the limited number of Crohn disease cases involving the head and neck, there is a predilection for mucosal surfaces and rare reports of involvement in the postauricular region. To our knowledge, in all previously reported cases involving the head and neck, the patients had a known diagnosis of Crohn disease. This case describes a 10-year-old boy with a history of psoriasis and psoriasiform dermatitis who presented with bilateral chronic granulomatous otitis externa, obliteration of the external auditory canal, and fissuring, resulting in separation of the lobule from the preauricular skin. Pathologic examination results were consistent with granulomatous dermatitis concerning for cutaneous Crohn disease, and a subsequent gastroenterologic workup confirmed the diagnosis of Crohn disease. This is a report of chronic granulomatous otitis as the initial presentation of cutaneous Crohn disease in a child.

Sustainability evaluation of essential critical raw materials: cobalt, niobium, tungsten and rare earth elements

NASA Astrophysics Data System (ADS)

Tkaczyk, A. H.; Bartl, A.; Amato, A.; Lapkovskis, V.; Petranikova, M.

2018-05-01

The criticality of raw materials has become an important issue in recent years. As the supply of certain raw materials is essential for technologically-advanced economies, the European Commission and other international counterparts have started several initiatives to secure reliable and unhindered access to raw materials. Such efforts include the EU Raw Materials Initiative, European Innovation Partnership on Raw Materials, US Critical Materials Institute, and others. In this paper, the authors present a multi-faceted and multi-national review of the essentials for the critical raw materials (CRMs) Co, Nb, W, and rare earth elements (REEs). The selected CRMs are of specific interest as they are considered relevant for emerging technologies and will thus continue to be of increasing major economic importance. This paper presents a ‘sustainability evaluation’ for each element, including essential data about markets, applications and recycling, and possibilities for substitution have been summarized and analysed. All the presented elements are vital for the advanced materials and processes upon which modern societies rely. These elements exhibit superior importance in ‘green’ applications and products subject to severe conditions. The annual production quantities are quite low compared to common industrial metals. Of the considered CRMs, only Co and REE gross production exceed 100 000 t. At the same time, the prices are quite high, with W and Nb being in the range of 60 USD kg‑1 and some rare earth compounds costing almost 4000 USD kg‑1. Despite valiant effort, in practice some of the considered elements are de facto irreplaceable for many specialized applications, at today’s technological level. Often, substitution causes a significant loss of quality and performance. Furthermore, possible candidates for substitution may be critical themselves or available in considerably low quantities. It can be concluded that one preferred approach for the investigated elements could be the use of secondary resources derived from recycling. W exhibits the highest recycling rate (37%), whereas Co (16%), Nb (11%) and rare earths (~0%) lag behind. In order to promote recycling of these essential elements, financial incentives as well as an improvement of recycling technologies would be required.
Cat-scratch disease presenting as a solitary splenic abscess in an elderly man.

PubMed

Nakamura, Momoko; Kurimoto, Mio; Kato, Takehiro; Kunieda, Takeshige

2015-03-24

Patients with cat-scratch disease (CSD), which is caused by Bartonella henselae, typically present with local lymphadenopathy with a brief period of fever and general symptoms. Most cases are self-limiting and usually afflict children and young adults. Although rare, CSD can lead to serious complications, especially in immunocompromised patients. These rare complications often require intensive treatment. We describe the case of a 79-year-old man who presented with general malaise and a high fever. The physical examination findings were unremarkable. Of note, the lymph nodes were not enlarged. An abdominal CT scan with intravenous contrast revealed a solitary splenic abscess and no lymphadenopathy. The initial antibiotic treatment was ineffective and a splenectomy was indicated. A history of contact with cats raised the possibility of CSD, which was confirmed by a positive serology test result for B henselae. Antibiotic treatment with azithromycin successfully treated the splenic abscess and splenectomy was avoided. 2015 BMJ Publishing Group Ltd.
Cryptococcal cerebellitis in no-VIH patient.

PubMed

Lasso, Fabricio Andres; Zamora Bastidas, Tomas Omar; Potosí García, Jorge Andrés; Díaz Idrobo, Bairon

2017-06-30

Cryptococcosis is an opportunistic fungal infection whose etiology is Cryptococcus neofromans / C. gattii, complex which affects immunocompromised patients mainly. Meningeal infection is one of the most common presentations, but cerebellar affection is rare. Male patient with 65 old years, from an area of subtropical climate with chronic exposure to poultry, without pathological antecedents, who presented clinical picture consistent with headache, fever, seizures and altered mental status. Initially without menigeal signs or intracranial hypertension and normal neurological examination. Later, the patient developed ataxia, dysdiadochokinesia and limb loss. By lumbar punction and image of nuclear magnetic resonance (NMR) cerebellitis cryptococcal was diagnosticated. Antifungal therapy with amphotericin B and fluconazole was performed, however the patient died. The cryptococcosis has different presentations, it´s a disease whose incidence has been increasing since the advent of the HIV / AIDS pandemy, however the commitment of the encephalic parenchyma and in particular the cerebellum is considered rare. In this way we are facing the first case of cryptococcal cerebellitis in our midst.
Urea cycle disorders: a life-threatening yet treatable cause of metabolic encephalopathy in adults.

PubMed

Blair, Nicholas F; Cremer, Philip D; Tchan, Michel C

2015-02-01

Urea cycle disorders are inborn errors of metabolism that, in rare cases, can present for the first time in adulthood. We report a perplexing presentation in a woman 4 days postpartum of bizarre and out-of-character behaviour interspersed with periods of complete normality. Without any focal neurological signs or abnormality on initial investigations, the diagnosis became clear with the finding of a significantly elevated plasma ammonia level, just as she began to deteriorate rapidly. She improved following intravenous dextrose and lipid emulsion, together with sodium benzoate, arginine and a protein-restricted diet. She remains well 12 months later with no permanent sequelae. Whilst this is a rare presentation of an uncommon disease, it is a treatable disorder and its early diagnosis can prevent a fatal outcome. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.
A review of urologic cancer patients with multiple primary malignancies.

PubMed

Mydlo, J H; Agins, J A; Donohoe, J; Grob, B M

2001-08-01

Much has been written on the treatment of solitary or multiple metastatic nodules that sometimes present in patients with urological malignancies. However, relatively little has been published regarding those patients with urological cancer who have another concomitant primary non-urologic tumor. We describe several cases of patients who presented with a urologic malignancy and a secondary non-urologic tumor. We also reviewed the literature using MEDLINE to gather information concerning this rare occurrence. We found that secondary malignancies, although not very common, are being increasingly reported. They are usually detected during the preoperative work-up of the primary tumor, usually by CT scan, ultrasound, or chest X-ray. Most authors suggest that treatment should be directed at the more aggressive lesion first, which would improve the overall status of the patient, and thus allow a better response from therapy for the secondary lesion. While patients with multiple primary malignancies are rare, the urologist should be alerted to this possibility when evaluating the patient for the initially presenting or detected tumor.
[Differential diagnosis and therapy of acute abdomen in sickle cell crisis. A rare case in visceral surgery].

PubMed

Zülke, C; Graeb, C; Rüschhoff, J; Wagner, H; Jauch, K W

2000-01-01

Surgical therapy of the acute abdomen often allows only limited time for differential diagnosis to confirm the indication for surgery. Under consideration of clinical aspects and case history both common and rare causes of an acute abdomen should be investigated without undue loss of time. Differential diagnostic considerations and eventual therapy are presented in the following case of a 25-year-old Afro-american who developed multiorgan failure after an initial course of lower-back pain. In addition to the clinical setting of an acute abdomen the patient presented with acute respiratory failure and laboratory signs of severe hemolysis in combination with newly detected splenomegaly. The indication for splenectomy was made following CT-proven complete splenic infarction due to repeated acute squestration. Histologic examination of the spleen together with hemoglobin electrophoresis confirmed the clinical assumption of unusually late primary manifestation of a sickle cell crisis. In the underlying case, the hemoglobinopathy was in fact the less common form of combined sickle-cell-beta-thalassemia. A ten-day course of intensive care therapy was necessary to treat ongoing multiorgan failure due to persistent sickle cell crisis. Current diagnostic and therapeutic procedures in connection with sickle cell crisis as a rare cause of an acute abdomen with the necessity for surgical intervention are presented.
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.
Histological variability and the importance of clinicopathological correlation in cutaneous Rosai-Dorfman disease.

PubMed

Gameiro, Ana; Gouveia, Miguel; Cardoso, José Carlos; Tellechea, Oscar

2016-01-01

Rosai-Dorfman disease is a benign histiocytic proliferative disorder of unknown etiology. The disease mainly affects lymph node tissue, although it is rarely confined to the skin. Here, we describe a 53-year-old woman with purely cutaneous Rosai-Dorfman disease. The patient presented with a large pigmented plaque on her left leg, and sparse erythematous papules on her face and arms. A complete clinical response was achieved with thalidomide, followed by recurrence at the initial site one year later. The histological examination displayed the typical features of Rosai-Dorfman disease in the recent lesions but not in the older lesions. In the setting of no lymphadenopathy, the histopathological features of Rosai-Dorfman disease are commonly misinterpreted. Therefore, awareness of the histological aspects present at different stages, not always featuring the hallmark microscopic signs of Rosai-Dorfman disease, is particularly important for a correct diagnosis of this rare disorder.
Scedosporium apiospermum causing brain abscess in a renal allograft recipient.

PubMed

Sharma, Amit; Singh, Divya

2015-11-01

Scedosporium apiospermum is the asexual form of a rare fungus Pseudallescheria boydii that is usually present in the soil, sewage and dirty water. In immunocompromised patients, it is a rare infection involving multiple organs. We present a case of renal allograft recipient who developed fever two weeks post renal transplant. He was initially found to have dengue fever. After five days, he became drowsy and developed right-sided hemiparesis. Magnetic resonance imaging of the brain revealed multiple irregular masses with associated edema consistent with fungal brain abscesses. Left parietal abscess was drained and he was started on voriconazole. His cyclosporine was stopped. Drained pus revealed fungal hyphae on potassium hydroxide stain and Scedosporium apiospermum on culture. Unfortunately, the patient died after five days. Scedosporium infections should be kept as a possibility in transplant recipients with disseminated infections, especially with a brain abscess. Despite antifungal therapy and surgical drainage, mortality rates are high.
Cancel and rethink in the Wason selection task: further evidence for the heuristic-analytic dual process theory.

PubMed

Wada, Kazushige; Nittono, Hiroshi

2004-06-01

The reasoning process in the Wason selection task was examined by measuring card inspection times in the letter-number and drinking-age problems. 24 students were asked to solve the problems presented on a computer screen. Only the card touched with a mouse pointer was visible, and the total exposure time of each card was measured. Participants were allowed to cancel their previous selections at any time. Although rethinking was encouraged, the cards once selected were rarely cancelled (10% of the total selections). Moreover, most of the cancelled cards were reselected (89% of the total cancellations). Consistent with previous findings, inspection times were longer for selected cards than for nonselected cards. These results suggest that card selections are determined largely by initial heuristic processes and rarely reversed by subsequent analytic processes. The present study gives further support for the heuristic-analytic dual process theory.
Gastrointestinal tract metastasis from tubulolobular carcinoma of the breast: a case report and review of the literature.

PubMed

Wang, Guixin; Wang, Tingjiang; Jiang, Jian; Zhou, Luyao; Zhao, Haidong

2014-01-01

Metastasis of breast cancer into the gastrointestinal tract happens rarely. The diagnosis of this kind of disease is difficult because of the nonspecific symptoms and the long interval between primary manifestations and recurrence. Awareness of this condition may lead to an accurate diagnosis and an earlier initiation of systemic treatment, thus avoiding unnecessary surgical intervention. In this paper, we report a rare case of a patient with tubulolobular carcinoma metastases to the colon, presenting with abdominal pain, discomfort, and weight loss. The patient underwent radical mastectomy and received postoperative radiotherapy and chemotherapy. Ten years later, she presented with gastrointestinal tract symptoms. Surgery combined with systemic treatment was chosen for the colon lesion. Immunohistochemical staining suggested a breast origin. The patient was still living 24 months after the diagnosis of the metastasis. This is the fourth case report in our literature review.
A Rare Manifestation of Hypothyroid Myopathy: Hoffmann's Syndrome

PubMed Central

Lee, Kang Won; Kim, Kyoung Jin; Kim, Sang Hyun; Kim, Hee Young; Kim, Byung-Jo; Kim, Sin Gon; Choi, Dong Seop

2015-01-01

Hypothyroid myopathy is observed frequently and the resolution of the clinical manifestations of myopathy following thyroid hormone replacement is well known. However, a specific subtype of hypothyroid myopathy, Hoffmann's syndrome, characterized by increased muscular mass (pseudohypertrophy), proximal muscle weakness, muscle stiffness and cramps, is rarely reported. Herein, we describe a 34-year-old male who presented with proximal muscle weakness and non-pitting edema of the lower extremities. He initially visited the neurology department where he was suspected of having polymyositis. Additional laboratory evaluation revealed profound autoimmune hypothyroidism and elevated muscle enzymes including creatine kinase. The patient was started on levothyroxine treatment and, subsequently, clinical symptoms and biochemical parameters resolved with the treatment. The present case highlights that hypothyroidism should be considered in the differential diagnosis of musculoskeletal symptoms even in the absence of overt manifestations of hypothyroidism. To our knowledge, this is the first case reported in Korea. PMID:26394732
Osteomalacia with low alkaline phosphatase: a not so rare condition with important consequences.

PubMed

Belkhouribchia, Jamal; Bravenboer, Bert; Meuwissen, Marije; Velkeniers, Brigitte

2016-01-28

Hypophosphatasia is a genetic disorder, characterised by a dysfunctional tissue-non-specific isoenzyme of alkaline phosphatase that impacts bone metabolism and predisposes to osteomalacia or rickets. The clinical presentation is very diverse, depending on the age of onset and the severity of the disease. Several forms of hypophosphatasia are recognised. We present a case of a 50-year-old woman with low impact fractures and loss of teeth at a young age. She also had a low alkaline phosphatase and was diagnosed with adult hypophosphatasia. Although the severe forms of hypophosphatasia are rather rare, the adult form is thought to occur quite frequently. As this condition is not well known by healthcare professionals, the time to diagnosis and initiation of adequate treatment is often postponed. When encountering a patient with low alkaline phosphatase, low bone density or a history of bone fractures, the possibility of hypophosphatasia should be considered. 2016 BMJ Publishing Group Ltd.
Significant anti-tumor effect of bevacizumab in treatment of pineal gland glioblastoma multiforme.

PubMed

Mansour, Joshua; Fields, Braxton; Macomson, Samuel; Rixe, Olivier

2014-12-01

Glioblastoma multiforme (GBM) is the most aggressive subtype of malignant gliomas. Current standard treatment for GBM involves a combination of cytoreduction through surgical resection, followed by radiation with concomitant and adjuvant chemotherapy (temozolomide). The role of bevacizumab in the treatment of GBM continues to be a topic of ongoing research and debate. Despite aggressive treatment, these tumors remain undoubtedly fatal, especially in the elderly. Furthermore, tumors present in the pineal gland are extremely rare, accounting for only 0.1-0.4 % of all adult brain tumors, with this location adding to the complexity of treatment. We present a case of GBM, at the rare location of pineal gland, in an elderly patient who was refractory to initial standard of care treatment with radiation and concomitant and adjuvant temozolomide, but who developed a significant response to anti-angiogenic therapy using bevacizumab.
Acute Calcific Tendinitis of the Index Finger in a Child.

PubMed

Walocko, Frances M; Sando, Ian C; Haase, Steven C; Kozlow, Jeffrey H

2017-09-01

Calcific tendinitis is characterized by calcium hydroxyapatite crystal deposition within tendons and is a common cause of musculoskeletal pain in adults. Its clinical manifestations may be acute, chronic, or asymptomatic. Acute calcific tendinitis is self-resolving condition that is rarely reported in the pediatric population and may be overlooked for more common processes, leading to unnecessary treatment. A chart reivew was performed of a single case of acute calcific tendonitis of the index finger in a child. We describe a case of calcific tendinitis of the index finger in a 9-year-old boy who was referred to us for a second opinion after surgical exploration of an acutely inflamed digit was recommended based on his initial presentation. The calcifications and symptoms resolved over time without operative management. Although rare in children, acute calcific tendinitis can present similar to an infection. However, appropriate managment is non-operative as the symptoms and radiographic findings resolve over time.
Juvenile polyposis syndrome: An unusual case report of anemia and gastrointestinal bleeding in young infant.

PubMed

Hsiao, Yi-Han; Wei, Chin-Hung; Chang, Szu-Wen; Chang, Lung; Fu, Yu-Wei; Lee, Hung-Chang; Liu, Hsuan-Liang; Yeung, Chun-Yan

2016-09-01

Juvenile polyposis syndrome, a rare disorder in children, is characterized with multiple hamartomatous polyps in alimentary tract. A variety of manifestations include bleeding, intussusception, or polyp prolapse. In this study, we present an 8-month-old male infant of juvenile polyposis syndrome initially presenting with chronic anemia. To the best of our knowledge, this is the youngest case reported in the literature. We report a rare case of an 8-month-old male infant who presented with chronic anemia and gastrointestinal bleeding initially. Panendoscopy and abdominal computed tomography showed multiple polyposis throughout the entire alimentary tract leading to intussusception. Technetium-99m-labeled red blood cell (RBC) bleeding scan revealed the possibility of gastrointestinal tract bleeding in the jejunum. Histopathological examination on biopsy samples showed Peutz-Jeghers syndrome was excluded, whereas the diagnosis of juvenile polyposis syndrome was established. Enteroscopic polypectomy is the mainstay of the treatment. However, polyps recurred and occupied the majority of the gastrointestinal tract in 6 months. Supportive management was given. The patient expired for severe sepsis at the age of 18 months. Juvenile polyposis syndrome is an inherited disease, so it is not possible to prevent it. Concerning of its poor outcome and high mortality rate, it is important that we should increase awareness and education of the parents at its earliest stages.
The path forward: 2015 International Children's Tumor Foundation conference on neurofibromatosis type 1, type 2, and schwannomatosis.

PubMed

Blakeley, Jaishri O; Bakker, Annette; Barker, Anne; Clapp, Wade; Ferner, Rosalie; Fisher, Michael J; Giovannini, Marco; Gutmann, David H; Karajannis, Matthias A; Kissil, Joseph L; Legius, Eric; Lloyd, Alison C; Packer, Roger J; Ramesh, Vijaya; Riccardi, Vincent M; Stevenson, David A; Ullrich, Nicole J; Upadhyaya, Meena; Stemmer-Rachamimov, Anat

2017-06-01

The Annual Children's Tumor Foundation International Neurofibromatosis Meeting is the premier venue for connecting discovery, translational and clinical scientists who are focused on neurofibromatosis types 1 and 2 (NF1 and NF2) and schwannomatosis (SWN). The meeting also features rare tumors such as glioma, meningioma, sarcoma, and neuroblastoma that occur both within these syndromes and spontaneously; associated with somatic mutations in NF1, NF2, and SWN. The meeting addresses both state of the field for current clinical care as well as emerging preclinical models fueling discovery of new therapeutic targets and discovery science initiatives investigating mechanisms of tumorigenesis. Importantly, this conference is a forum for presenting work in progress and bringing together all stakeholders in the scientific community. A highlight of the conference was the involvement of scientists from the pharmaceutical industry who presented growing efforts for rare disease therapeutic development in general and specifically, in pediatric patients with rare tumor syndromes. Another highlight was the focus on new investigators who presented new data about biomarker discovery, tumor pathogenesis, and diagnostic tools for NF1, NF2, and SWN. This report summarizes the themes of the meeting and a synthesis of the scientific discoveries presented at the conference in order to make the larger research community aware of progress in the neurofibromatoses. © 2017 Wiley Periodicals, Inc.
Time-dependent importance sampling in semiclassical initial value representation calculations for time correlation functions.

PubMed

Tao, Guohua; Miller, William H

2011-07-14

An efficient time-dependent importance sampling method is developed for the Monte Carlo calculation of time correlation functions via the initial value representation (IVR) of semiclassical (SC) theory. A prefactor-free time-dependent sampling function weights the importance of a trajectory based on the magnitude of its contribution to the time correlation function, and global trial moves are used to facilitate the efficient sampling the phase space of initial conditions. The method can be generally applied to sampling rare events efficiently while avoiding being trapped in a local region of the phase space. Results presented in the paper for two system-bath models demonstrate the efficiency of this new importance sampling method for full SC-IVR calculations.
[Metachromatic Leukodystrophy. Case Presentation].

PubMed

Espejo, Lina María; de la Espriella, Ricardo; Hernández, José Fernando

Metachromatic leukodystrophy (MLD) is a rare demyelinating disease (prevalence 1:40 000), also called arylsulfatase A deficiency (ARS-A), which may present with neurological and psychiatric symptoms. Clinical assessment may be difficult, due to unspecific signs and symptoms. A case is presented of a 16 year-old female patient seen in psychiatry due to behavioural changes, psychosis, and with impaired overall performance. She was initially diagnosed with schizophrenia, but the Nuclear Magnetic Resonance (NMR) scan and laboratory tests lead to the diagnosis of MLD. Copyright © 2016 Asociación Colombiana de Psiquiatría. Publicado por Elsevier España. All rights reserved.
Massive gas gangrene secondary to occult colon carcinoma.

PubMed

Griffin, Andrew S; Crawford, Matthew D; Gupta, Rajan T

2016-06-01

Gas gangrene is a rare but often fatal soft-tissue infection. Because it is uncommon and the classic symptom of crepitus does not appear until the infection is advanced, prompt diagnosis requires a high index of suspicion. We present a case report of a middle-aged man who presented with acute onset lower-extremity pain that was initially thought to be due to deep vein thrombosis. After undergoing workup for pulmonary embolism, he was found to have massive gas gangrene of the lower extremity secondary to an occult colon adenocarcinoma and died within hours of presentation from multisystem organ failure.

MRI appearance of massive renal replacement lipomatosis in the absence of renal calculus disease

PubMed Central

Fitzgerald, E; Melamed, J; Taneja, S S; Rosenkrantz, A B

2011-01-01

Renal replacement lipomatosis is a rare benign entity in which extensive fibrofatty proliferation of the renal sinus is associated with marked renal atrophy. In this report, we present a case of massive renal replacement lipomatosis demonstrated on MRI. The presentation was atypical given an absence of associated renal calculus disease, and an initial CT scan was interpreted as suspicious for a liposarcoma. The differential diagnosis and key MRI findings that served to establish this specific diagnosis are reviewed. Histopathological correlation is also presented, as the patient underwent nephroureterectomy. PMID:21257835
Mesalamine-induced myopericarditis in a paediatric patient with Crohn's disease.

PubMed

Nair, Asha G; Cross, Russell R

2015-04-01

Mesalamine-containing products are considered first-line treatment for inflammatory bowel disease. Myocarditis is recognised as a very rare possible side effect of these medications, but has not often been described in the paediatric population. We present a case of an adolescent with Crohn's disease who presented with myopericarditis after recent initiation of Pentasa. Once identified as the causative agent, the drug was discontinued, with subsequent normalisation of troponin and improvement of function. This case identifies the importance of prompt evaluation, diagnosis, and treatment of paediatric patients receiving mesalamine-containing medications that present with significant cardiovascular symptoms.
Creutzfeldt-Jakob disease with Alzheimer pathology, presenting with status epilepticus following repeated partial seizures: a case report and literature review.

PubMed

Miyake, Keita; Hara, Takashi; Oshima, Etsuko; Kawada, Kiyohiro; Ishizu, Hideki; Yamauchi, Yuko; Satoh, Katsuya; Kitamoto, Tetsuyuki; Takenoshita, Shintaro; Terada, Seishi; Yamada, Norihito

2018-04-25

Creutzfeldt-Jakob disease (CJD) is a fatal neurodegenerative disease. Common first symptoms are dementia, cerebellar ataxia, visual disturbance, and psychiatric symptoms. Seizure as the first symptom of CJD is a very rare finding. We experienced an elderly woman who presented initially with status epilepticus following repeated partial seizures in the course of Alzheimer disease (AD) dementia. Anti-convulsive therapy had no effect. Autopsy revealed definite CJD with AD pathology. This is the first reported CJD case presenting with status epilepticus in the course of AD dementia.
Clinical features and treatment of vulvar Merkel cell carcinoma: a systematic review.

PubMed

Nguyen, Austin Huy; Tahseen, Ahmed I; Vaudreuil, Adam M; Caponetti, Gabriel C; Huerter, Christopher J

2017-01-01

Merkel cell carcinoma is a rare and aggressive neoplasm originating from mechanoreceptor Merkel cells of the stratum basale of the epidermis. Cases affecting the vulva are exceedingly rare, with the currently available literature primarily in case report form. Systematic review of the PubMed database returned 17 cases of Merkel cell carcinoma affecting the vulva. Patients presented at a mean age of 59.6 years with a firm, mobile vulvar mass. Symptoms of pain, erythema, pruritus, edema, and ulceration have been reported. Tumor histology is consistent with that of neuroendocrine tumors and typical Merkel cell carcinomas. Neuroendocrine and cytokeratin immunostains are frequently utilized in histopathological workup. Surgical management was the unanimous first-line therapy with adjuvant radiation in most cases. Recurrence occurred in 70.6% of patients at a mean follow-up of 6.3 months. Mortality was at 47.0% at a mean of 7.8 months after initial operation. Merkel cell carcinoma affecting the vulva is an extremely rare and highly aggressive neoplasm. The present review of published cases serves to comprehensively describe the clinical course and treatment approaches for vulvar Merkel cell carcinoma.
Primary non-Hodgkin lymphoma of the right femur and subsequent metastasis to the left femur: A case report and literature review.

PubMed

Hu, Jing-Yu; Yu, Dan; Wu, Yao-Hui

2018-04-01

Non-Hodgkin lymphoma of the bone is rare and typically causes an extensive bone lesion. The present study describes a case of diffuse large B-cell primary non-Hodgkin lymphoma of the bone, which occurred in the right femur, and was initially treated with surgery and chemotherapy. Following a 7-year period of complete remission, a new, similar lesion was identified in the left femur. With both lesions, there was no accompanying destruction of any other bones or organ involvement. Metastasis of PLB to the contralateral side is extremely rare and, to the best of our knowledge, this is the first report of this particular presentation in China or worldwide. We hypothesized that the present situation arose due to mechanisms involving the tumor microenvironment, circulating tumor cells, lymphocyte homing and self-seeding. The present report describes the case in detail, and discusses the possible underlying mechanisms and their potential contribution to the treatment of non-Hodgkin lymphoma, as well as the prevention of metastasis and recurrence, which may be of considerable clinical significance.
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
Diabetic ketoacidosis in acromegaly; a rare complication precipitated by corticosteroid use.

PubMed

Weiss, Jeremy; Wood, Anna J; Zajac, Jeffrey D; Grossmann, Mathis; Andrikopoulos, Sofianos; Ekinci, Elif I

2017-12-01

Diabetic ketoacidosis has been described in the literature as a rare possible initial presentation of acromegaly before a diagnosis of acromegaly is eventually made. Indeed, diabetic ketoacidosis is a recognised complication of acromegaly. There are a number of factors that can predispose patients with acromegaly to diabetes as well as to diabetic ketoacidosis. These include high levels of growth hormone and insulin-like growth factor 1 in acromegaly and the effect on glycaemia by medications used in the management of acromegaly. Ketoacidosis has been described in patients with acromegaly even without the presence of an underlying autoimmune diabetes. Patients with acromegaly and ketoacidosis often respond to treatment and may not require long-term insulin. Copyright © 2017. Published by Elsevier B.V.
Gastric Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue and Signet Ring Cell Carcinoma, Synchronous Collision Tumour of the Stomach: A Case Report

PubMed Central

George, Smiley Annie; Junaid, T.A.

2014-01-01

Objective To report a rare case of synchronous marginal zone lymphoma of mucosa-associated lymphoid tissue (MALT) signet ring cell carcinoma occurring as a collision tumour in the stomach. Clinical Presentation and Intervention A 53-year-old man was diagnosed initially with signet ring cell carcinoma of the stomach. The microscopy of the subsequent total gastrectomy revealed a collision tumour of MALT lymphoma and signet ring cell carcinoma associated with Helicobacter pylori gastritis. Conclusion This case highlighted the importance of a careful evaluation of the accompanying lymphoid population in the biopsy samples of gastric adenocarcinoma and underlined the need for multiple endoscopic biopsies to detect these rare synchronous tumours. PMID:24247357
Left atrial appendage myxofibrosarcoma: A rare masquerader of myxoma and thrombus-"all that glitters is not gold".

PubMed

Khan, Muhammad Shoaib; Reddy, Sahadev; Lombardi, Richard; Isabel, Pitti; Mcgregor, Walter E; Tang, Bang; Gabriel, George; Biederman, Robert W

2018-02-01

Left atrial appendage mass can occasionally pose a serious challenge to physicians to identify the nature of the mass with the aid of imaging techniques. We present a case of 67-year-old man, who was evaluated for suspected left atria myxoma. Transesophageal echocardiography revealed a heterogeneous density originating from left atrial appendage, thought to be most consistent with a myxoma. Cardiac magnetic resonance imaging, uncharacteristically, gave an equivocal picture, suggesting the mass to be a myxoma on initial imaging and a thrombus with evidence of liquefaction necrosis following postcontrast enhancement. Surprisingly, histopathology of the mass following its surgical excision yielded a rare diagnosis of myxofibrosarcoma. © 2017, Wiley Periodicals, Inc.
Syndrome of the anterior spinal artery as the primary manifestation of aspergillosis.

PubMed

Pfausler, B; Kampfl, A; Berek, K; Maier, H; Aichner, F; Schmutzhard, E

1995-01-01

Aspergillosis of the central nervous system (CNS) is an uncommon infection, mainly occurring in immunocompromised patients. Beside cerebral involvement spinal cord lesions are extremely rare. To our knowledge, aspergillosis initially presenting with acute paraplegia due to mycotic thrombosis of the anterior spinal artery in a formerly healthy patient has, so far, not been reported. Neither a primary focus nor an underlying disease had been detected.
Esophageal motor and sensory disorders: presentation, evaluation, and treatment.

PubMed

Massey, Benson T

2007-09-01

Esophageal motor and sensory disorders are relatively rare conditions in the general population and afflicted patients are often initially misdiagnosed as having gastroesophageal reflux disease. Tests for these disorders have imperfect gold standards and are adjuncts to sound diagnostic reasoning. Treatments are palliative and have not been rigorously evaluated for some disorders. Symptoms and complications from disease progression and relapse are common, so that patients need continued follow-up.
Rhabdomyolysis in a Patient with Severe Hypothyroidism

PubMed Central

Salehi, Nooshin; Agoston, Endre; Munir, Iqbal; Thompson, Gary J.

2017-01-01

Patient: Female, 52 Final Diagnosis: Hypothyroidism induced rhabdomyolysis Symptoms: Bilateral leg pain • fatigue Medication: Levothyroxine • Calcitriol • Calcium Gluconate Clinical Procedure: — Specialty: Endocrinology and Metabolic Objective: Unusual clinical course Background: Muscular symptoms, including stiffness, myalgia, cramps, and fatigue, are present in the majority of the patients with symptomatic hypothyroidism, but rhabdomyolysis, the rapid breakdown of skeletal muscle, is a rare manifestation. In most patients with hypothyroidism who develop rhabdomyolysis, precipitating factors, such as strenuous exercise or use of lipid-lowering drugs, can be identified. Case Report: We report a case of a 52-year-old Hispanic woman with a history of hypothyroidism, hypertension, and type 2 diabetes mellitus who presented with fatigue, severe generalized weakness, bilateral leg pain, and recurrent falls. She reported poor medication compliance for the preceding month. Initial laboratory testing showed elevated thyroid stimulating hormone (TSH) and creatine kinase (CK) levels, indicating uncontrolled hypothyroidism with associated rhabdomyolysis. Supportive treatment with intravenous fluids and intravenous levothyroxine were initiated and resulted in dramatic clinical improvement. Conclusions: We report a case of rhabdomyolysis, which is a rare but potentially serious complication of hypothyroidism. Screening for hypothyroidism in patients with elevated muscle enzymes should be considered, since an early diagnosis and prompt treatment of hypothyroidism is essential to prevent rhabdomyolysis and its consequences. PMID:28827517
[Spontaneous bile duct perforation: a rare cause of acute abdominal pain during childhood].

PubMed

Ozdemir, Tunç; Akgül, Ahsen Karagözlü; Arpaz, Yağmur; Arikan, Ahmet

2008-07-01

Spontaneous perforation of the bile duct (SPBD) is a rare cause of acute abdominal pain during childhood. Pancreatico-biliary malfunction has been postulated to contribute to its etiology. Factors related to diagnosis and treatment and difference from the other common causes of acute abdominal pain are emphasized. Five patients (3 boys, 2 girls, mean age 4.6) were admitted with peritonitis and operated with initial diagnosis of perforated appendicitis. During laparotomy, SPBD was detected. Presentation, laboratory findings and operative technique of the patients were evaluated retrospectively. Common complaints were abdominal pain and bilious vomiting. Abdominal distention was present in all patients. Leukocytosis and mild hyperbilirubinemia were detected in 5, elevated serum transaminase levels in 4, hyperglycemia in 1 and constipation in 1 patient(s). Abdominal ultrasonography showed a large amount of free fluid. During laparotomy, sterile bile peritonitis was detected initially. After exploration, SPBD was seen. T-tube drainage of the bile duct was carried out. Patients were discharged after removal of the T-tubes. Pancreatico-biliary malfunction was detected in 4 of 5 patients. In patients with generalized peritonitis, elevated transaminase levels and hyperbilirubinemia, SPBD must be considered. Even though the T-tube drainage is the treatment of choice, Roux-en-Y hepatico-portoenterostomy may be mandatory in certain patients.
The Importance of Collaboration in Advancing Understanding of Rare Disorders: US/EU Joint Initiative on Silver-Russell Syndrome.

PubMed

Salem, Jennifer B; Netchine, Irène; Harbison, Madeleine D

2017-11-01

Patient-support organizations can facilitate a significant change in the way rare disorders are approached. Besides connecting families with each other and directing patients to experienced medical specialists, these groups, by collaborating with government initiatives like COST, can effect the direction and funding of rare disease research. By concentrating the rare disease patient population and funneling them to specific centers of excellence, these organizations help build specialists' experience and their study populations. It requires a basic spirit of collaboration, driven parent leaders, a well-organized support platform, sources of funding, supportive clinical and research professionals and finally an effective method of collecting and disseminating information. Silver-Russell Syndrome is an excellent example of a rare disorder that has become better recognized, understood and treated because patient-support organizations, using the internet as a critical tool, have worked together with clinical care/research specialists and public funding agencies to build collaboration. Copyright© of YS Medical Media ltd.
Metastatic carcinoma presenting as hind-limb lameness: diagnosis by synovial fluid cytology.

PubMed

Meinkoth, J H; Rochat, M C; Cowell, R L

1997-01-01

A dog presented for evaluation of left hind-limb lameness and pain associated with manipulation of the tail. Synovial metastasis of a carcinoma was diagnosed by joint fluid examination. A primary bronchiolar-alveolar carcinoma with widespread (including synovial and skeletal) metastases was diagnosed on postmortem examination. Metastasis to synovial surfaces is uncommon, but when it occurs, the metastasis-induced arthritis may be the initial presenting complaint for which medical attention is sought. Although rarely reported, cytological examination of synovial fluid may be diagnostic. This paper presents an interesting clinical case and reviews the literature concerning metastatic disease of the synovium.
Varied Presentation of Congenital Segmental Dilatation of the Intestine in Neonates: Report of Three Cases

PubMed Central

Rai, Binod Kumar; Mirza, Bilal; Hashim, Imran; Saleem, Muhammad

2016-01-01

Congenital segmental dilatation (CSD) of the intestine is a rare developmental anomaly characterized by sharply demarcated dilatation of a gastrointestinal segment and may present with intestinal obstruction. We report three cases of CSD of the intestine in neonates with varied presentation. First patient was mistaken as pneumoperitoneum on abdominal radiograph, which led to initial abdominal drain placement. The 2nd patient was a case of anorectal malformation associated with congenital pouch colon (CPC) and CSD of ileum; and the third case presented as neonatal intestinal obstruction and found to have CSD of ileum. All the patients were successfully managed in our department. PMID:27896163
Recurrent Unilateral Vulval Elephantiasis: A Case Report

PubMed Central

G., Sampath Kumar; Venkatesh, Shreedhar

2014-01-01

Genital elephantiasis is caused by a variety of infective and non infective causes leading to blockage of lymphatic. We are presenting a rare case of recurrent unilateral vulval elephantiasis which has recurred after initial reconstructive surgery. A 38 year old female presented with vulval swelling and on examination there was gross unilateral vulval enlargement. FNAC (Fine needle aspiration cytology) and biopsy were contributory for diagnosis. Patient was started with antibiotics and daily dressing was done till the infection was subsided and the patient was planned for reconstructive surgery. PMID:24971141
Salmonella Urinary Tract Infection Heralding Thoracic Mycotic Aneurysm: Case Report as Medical Apology

PubMed Central

White, Jennifer L.; Golfus, Gabriel R.; Sadosty, Annie T.

2017-01-01

We report a case as a patient apology as a means of teaching other physicians about a unique presentation of a rare disease. Salmonella species are unusually isolated organisms in urine. In the case described, appreciation for the rarity of Salmonella species in the urine facilitated recognition of a serious disseminated Salmonella infection. Physicians should consider disseminated Salmonella infection, as was found in a patient with an aortic mycotic an eurysm, after isolation of Salmonella in urine despite an initially benign clinical presentation.
Branchial fistula arising from pyriform fossa: CT diagnosis of a case and discussion of radiological features.

PubMed

Chauhan, Narvir Singh; Sharma, Yash Paul; Bhagra, Tilak; Sud, Bindu

2012-01-01

Anomalies of third or fourth branchial apparatus origin are very uncommon and present as recurrent neck infections or thyroiditis with a predominant left-sided involvement. Radiological diagnosis requires a high index of suspicion and is critical for initiation of proper treatment. We describe a case of branchial sinus of pyriform fossa with external fistulization that presented in adulthood and was diagnosed on computed tomographic scan. The radiological features of this rare anomaly are revisited. Copyright © 2012 Elsevier Inc. All rights reserved.
Radio Observations of the Type IIP Supernova 20017eaw

NASA Astrophysics Data System (ADS)

Stockdale, Christopher; Perez-Torres, Miguel; Argo, Megan; Ryder, Stuart D.; Panagia, Nino; Van Dyk, Schuyler; Bauer, Franz Erik; Roming, Peter; Marcaide, Jon; Pooley, Dave; Lien, Amy; Sramek, Richard A.

2018-01-01

We present the results of radio observations of the type IIP Supernova 2017eaw using the Very Large Array and the eMERLIN radio telescopes at centimeter wavelengths. SN 2017eaw is a rare type IIP that did not show prompt radio emission after initial explosion. We will present our analysis of the current data and discuss the implications for the pre-explosion evolution of the progenitor star of SN 20017eaw. The National Radio Astronomy Observatory is a facility of the National Science Foundation operated under cooperative agreement by Associated Universities.

Paraspinal tuberculosis mimicking malignancy.

PubMed

Alherabi, Ameen Z; Marglani, Osama A; Gazzaz, Malak J; Abbas, Mohammed M

2013-12-01

Tuberculosis (TB) of the paraspinal muscles is a rare clinical entity. We present a case of an 18-year-old, Saudi male patient presenting with the clinical picture of a paraspinal mass that turned out to be paraspinal TB. It originated from the paraspinal tissues and muscles, and invaded the C6 and C7 vertebrae. Initially, it was highly suspicious for malignancy. A biopsy confirmed the diagnosis of TB, and the patient was treated successfully with anti-TB therapy. It is important to be aware that paraspinal TB can mimic malignancy.
Gastrointestinal tract metastasis as first presentation of breast cancer.

PubMed

Savanis, G; Simatos, G; Tzaida, O; Tsikkinis, C; Ammari, S; Mylonas, A; Kafasis, E; Nisiotis, A

2006-01-01

Gastrointestinal metastases of breast cancer are a rare occurrence. It is even rarer to be the first manifestation of an unknown breast cancer. We present 2 cases of metastatic breast cancer of the lobular type to the stomach and large bowel in 2 women, initially considered as primary disease. The establishment of diagnosis required experienced histopathologic and immunohistochemical examination. The management follows the principles of the primary disease. Surgery is spared for complications. Mean survival is one year. Prognosis is better for patients with positive hormonal receptors.
Orthodontic parotitis: a rare complication from an orthodontic appliance.

PubMed

McCarthy, Eileen; Cobb, Alistair R M

2012-12-01

A case is presented of a 14-year-old female undergoing orthodontic fixed appliance treatment who presented with right facial swelling in the parotid region. An initial diagnosis of acute infective parotitis was made by her primary care clinician. However, after clinical examination and ultrasonographic imaging, a diagnosis of salivary stasis secondary to inflammatory occlusion of Stensen's ductal orifice was made. The ductal orifice had been traumatized by the adjacent orthodontic appliance. This has not been described before in the literature. The differential diagnosis of parotid enlargement in children is discussed.
Non-healing genital herpes mimicking donovanosis in an immunocompetent man.

PubMed

Gupta, Vishal; Khute, Prakash; Patel, Anjali; Gupta, Somesh

2016-01-01

Although atypical presentations of herpetic infection in immunocompetent individuals are common, they very rarely have the extensive, chronic and verrucous appearances seen in the immunocompromised host. We report a case of genital herpes manifesting as painless chronic non-healing genital ulcers with exuberant granulation tissue in an immunocompetent man. Owing to this morphology, the ulcers were initially mistaken for donovanosis. To the best of our knowledge, such a presentation of genital herpes in an immunocompetent individual has not been described previously. © The Author(s) 2015.
Urinary Tract Infection Associated with a Celiac Crisis: A Preceding or Precipitating Event?

PubMed

Tiwari, Abhinav; Qamar, Khola; Sharma, Himani; Almadani, Sameh Bashar

2017-01-01

Celiac crisis is a rare life-threatening presentation of celiac disease that manifests as profuse diarrhea, hypoproteinemia, and severe metabolic disturbances. It may be precipitated by a general immune stimulus such as surgery, infection, or pregnancy. We report the case of a 26-year-old woman who presented with a celiac crisis, potentially triggered by a preceding urinary tract infection. Metabolic derangement is caused by malabsorption and profuse diarrhea, which can be unremitting unless the celiac crisis is recognized, and treatment with gluten restriction is initiated.
Aggressive Angiomyxoma of the Vulva Mimicking Clitoromegaly in a Young Child.

PubMed

Kawamura, Masataka; Matsumoto, Fumi; Matsui, Futoshi; Yazawa, Koji; Shimada, Kenji

2017-03-01

Aggressive angiomyxoma (AAM) is a rare soft tissue tumor of mesenchymal origin that chiefly involves the vulvar and perineal region. In 90% of cases, AAM presents in women of reproductive age with a peak incidence in the fourth decade of life. To date, AAM of the vulva in young children and infancy has never been reported. We present a case of AAM of the vulva that was initially interpreted as clitoromegaly in a 3-year-old girl. Copyright © 2016 Elsevier Inc. All rights reserved.
Antenatal Bartter syndrome presenting with vomiting and constipation mimicking subacute intestinal obstruction in a 20-day-old neonate.

PubMed

Abdelgadir, Ibtihal Siddiq; Elgharbawy, Fawzia; Salameh, Khalil Mohamad; Juma, Baha Eldin

2017-11-14

Antenatal Bartter syndrome is a rare condition that can present with different clinical features. These features include early onset maternal polyhydramnios, failure to thrive, prematurity and nephrocalcinosis.We are presenting this 20-day-old girl who had an antenatal history of polyhydramnios. She developed persistent non-bilious vomiting that was associated with constipation soon after birth. She presented with failure to thrive and features suggestive of intestinal obstruction. On the initial evaluation, she was noted to have hypokalaemic, hyponatraemic metabolic alkalosis. The initial work-up was done to exclude surgical and renal causes of her presentation, and the diagnosis was confirmed by gene analysis to be type III-classic Bartter syndrome. She was closely monitored for her growth and development with the appropriate salt replacement therapy. © 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.
Malignant pleural mesothelioma in a 17-year old boy: A case report and literature review.

PubMed

Pérez-Guzmán, C; Barrera-Rodríguez, R; Portilla-Segura, J

2016-01-01

Malignant pleural mesothelioma is a rare, invasive and often fatal neoplasm that develops in the thin layer of tissue surrounding the lungs known as the pleura. Although rare, mesotheliomas do occur in the young; their characteristics are distinct from those of older patients. This is a case report of a 17-year-old boy who had moderate dyspnea, cough, right-sided pleuritic chest pain, fever, headache and no weight loss. Physical examination showed a right pleural effusion and chest roentgenograms revealed a homogenous opacity on lower right hemithorax. Biochemical analysis of pleural fluid showed hemorrhagic/turbid effusion compatible with exudate. It was initially treated as an empyema. The pleural fluid culture was negative. Adenosine deaminase level was 34.3 U/L (admission) and 19.02 U/L (two weeks after). Pleural fluid smear and culture for Mtb were negative. During the open pleural biopsy, thickened pleura and multiple pale yellow nodules in the lung were observed. The histopathological report was compatible with malignant pleural mesothelioma. With this diagnosis, a chemotherapy regimen with cisplatin was initiated. After two cycles, the patient had no clinical and radiological improvement. The patient is currently under regular follow up. MPM is rare in young adults and its clinical presentation makes it different from mesothelioma in elderly patients, so it will be necessary to identify the new risk factors that can identify these patients.
Primary synovial sarcoma of the thyroid with locally repeated relapses in short periods: A case report

PubMed Central

SHI, RONG-LIANG; QU, NING; GAO, LI-LI; LU, ZHONG-WU; SUN, GUO-HUA; JI, QING-HAI

2016-01-01

The primary occurrence of synovial sarcoma (SS) in the thyroid is quite rare. As other SS arise from the head and neck structure, it tends to present poor biological behaviors and is generally treated as a high-grade sarcoma. The present study reports the case of a 31-year-old male who presented a neck mass, involving the thyroid, as shown by ultrasonography. The tumor was resected by total thyroidectomy and diagnosed as SS by histopathology. However, the initial surgery was considered as incomplete (R2) and no adjuvant protocol was followed. At the follow-up, neck recurrences within local lymph nodes were found repeatedly. The tumor grade increased for the metastatic lesions, indicating poorer differentiations with repeated relapses. The accurate evaluations of the primary tumor facilitated it to tailor the initial treatments, otherwise, the prognosis may be deteriorated by inappropriate management. PMID:27330751
Pink hypopyon in a patient with Serratia marcescens corneal ulceration.

PubMed

Stefater, James A; Borkar, Durga S; Chodosh, James

2015-01-01

A 65-year-old woman presented to the emergency ward at the Massachusetts Eye and Ear Infirmary with 2 days of redness, irritation, photophobia, and diminished vision in her left eye. She was found to have a large central corneal ulcer with a small hypopyon. On the following day, after initiation of broad-spectrum antibiotics, the patient had improved symptoms but now had a 2-mm hypopyon that was distinctly pink in color. Cultures were positive for Serratia marcescens. A pink hypopyon, a rare occurrence, alerted the authors to a causative agent of Enterobacteriacae, either Klebsiella or Serratia. Immediate and intensive treatment was subsequently initiated.
Spontaneous gas gangrene in a patient with Crohn's disease.

PubMed

Vaidya, Yash P; Vaidya, Tanvi P

2012-01-01

Spontaneous gas gangrene is necrosis of muscles in the absence of trauma, causing an acutely painful and potentially fatal condition. However, the occurrence of this condition in Crohn's disease has been very rarely documented. In this extremely rare case we describe an occurrence of spontaneous gas gangrene, in a known case of Crohn's disease. The patient presented with fever and pain in the left arm and abdomen. After admission and initial management with antibiotics, the patient developed crepitus in the arm and myonecrosis necessitating a fasciotomy and later an emergency amputation of his left upper limb. The pathogenesis of gas gangrene in inflammatory bowel disease is not fully understood. Management includes aggressive antibiotic administration followed by amputation of the non-salvageable limb. A high index of suspicion of such rare complications is a must and surgical intervention is life saving; however, the efficacy of anti-gas gangrene serum is controversial. We recommend use of a multipronged approach in such cases with high mortality rates.
Pelvic malignant hemangiopericytoma mimicking an ovarian neoplasm; a case report.

PubMed

Ahmad, Gaity F; Athavale, Ram; Hamid, Bushra N A; Davies-Humphreys, John

2004-05-01

Malignant hemangiopericytoma (MHPC) is a rare vascular tumor and has been reported to occur in the musculature of the extremities, retroperitoneum and pelvis. Omental hemangiopericytomas (HPCs) are extremely rare. Synovial sarcomas and solitary fibrous tumors share histologic features with HPCs, causing diagnostic difficulties. Immunohistochemistry is essential for the diagnosis. A 74-year-old woman presented with an abdominopelvic mass. A malignant ovarian tumor was suspected on clinical features, ultrasound and computed tomography. Staging laparotomy revealed a large, vascular tumor adherent to loops of small bowel, colon, cecum and appendix, but the ovaries and uterus were normal. The tumor was completely removed after extensive dissection. Histopathology and detailed immunohistochemistry established the diagnosis of a malignant hemangiopericytoma arising from the omentum. The patient developed recurrent subacute bowel obstruction and died 4 months after the initial diagnosis. MHPCs are rare tumors and not likely to be diagnosed preoperatively. Treatment is therefore individualized and based on the findings at laparotomy. Some tumors, such as the one described here, exhibit very aggressive behavior.
Spontaneous gas gangrene in a patient with Crohn’s disease

PubMed Central

Vaidya, Yash P.; Vaidya, Tanvi P.

2012-01-01

Summary Background: Spontaneous gas gangrene is necrosis of muscles in the absence of trauma, causing an acutely painful and potentially fatal condition. However, the occurrence of this condition in Crohn’s disease has been very rarely documented. Case Report: In this extremely rare case we describe an occurrence of spontaneous gas gangrene, in a known case of Crohn’s disease. The patient presented with fever and pain in the left arm and abdomen. After admission and initial management with antibiotics, the patient developed crepitus in the arm and myonecrosis necessitating a fasciotomy and later an emergency amputation of his left upper limb. The pathogenesis of gas gangrene in inflammatory bowel disease is not fully understood. Management includes aggressive antibiotic administration followed by amputation of the non-salvageable limb. Conclusions: A high index of suspicion of such rare complications is a must and surgical intervention is life saving; however, the efficacy of anti-gas gangrene serum is controversial. We recommend use of a multipronged approach in such cases with high mortality rates. PMID:23569538
Rare cause of upper gastrointestinal bleeding owing to hepatic cancer invasion: a case report.

PubMed

Wu, Wei-Ding; Wu, Jia; Yang, Hong-Guo; Chen, Yuan; Zhang, Cheng-Wu; Zhao, Da-Jian; Hu, Zhi-Ming

2014-09-21

Upper gastrointestinal bleeding refers to bleeding that arises from the gastrointestinal tract proximal to the ligament of Treitz. The primary reason for gastrointestinal bleeding associated with hepatocellular carcinoma is rupture of a varicose vein owing to pericardial hypotension. We report a rare case of gastrointestinal bleeding with hepatocellular carcinoma in a patient who presented with recurrent gastrointestinal bleeding. The initial diagnosis was gastric cancer with metastasis to the multiple lymph nodes of the lesser curvature. The patient underwent exploratory laparotomy, which identified two lesions in the gastric wall. Total gastrectomy and hepatic local excision was then performed. Pathological results indicated that the hepatocellular carcinoma had invaded the stomach directly, which was confirmed immunohistochemically. The patient is alive with a disease-free survival of 1 year since the surgery. Hepatocellular carcinoma with gastric invasion should be considered as a rare cause of upper gastrointestinal bleeding in hepatocellular carcinoma patients, especially with lesions located in the left lateral hepatic lobe. Surgery is the best solution.
[Intestinal intussusception due to ileal gastrointestinal stromal tumor--a case report].

PubMed

Andrei, S; Andrei, A; Tonea, A; Andronesi, D; Preda, C; Herlea, V; Popescu, I

2011-01-01

Intestinal occlusion due to intussusception produced by intestinal tumors is a very rare condition. Gastrointestinal stromal tumors are also rare digestive neopasias, with an impredictable malignant behavior, which are usually growing outside the intestinal wall, being rarely the initiators of an intestinal intussusception. We present the case of a 59 years old female, admitted in our hospital to elucidate the etiology of her iron deficient anaemia, which developed an intestinal occlusion at the intestinal preparation for colonoscopy. The abdominal CT scan performed in emergency conditions highlighted occlusive intestinal tumor complicated with intestinal intussusception. We performed an emergency laparotomy that revealed intestinal occlusion due to ileo-ileal intussusception produced by an ileal tumor. The surgical intervention consisted in segmental ileal enterectomy including the tumor with latero-lateral entero-enteral anastomosis. The patient recovered without complications. The histopathological and immunohisto-chemical examinations established the diagnose of gastro-intestinal stromal tumor with high risk malignant behavior, therefore the patient was guided in the oncological department for specific treatment and oncological surveillance.
Chloramphenicol Toxicity Revisited: A 12-Year-Old Patient With a Brain Abscess

PubMed Central

Wiest, Donald B.; Cochran, Joel B.; Tecklenburg, Fred W.

2012-01-01

Chloramphenicol, a broad-spectrum antibiotic, is rarely used in the United States due to its well-described adverse effects. Because of its limited use, many clinicians are unfamiliar with its indications, spectrum of activity, and potential adverse drug effects. We describe a 12-year-old patient who presented after two craniotomies for a persistent brain abscess complicated by long-term chloramphenicol administration. Findings for this patient were consistent with many of the adverse drug effects associated with chloramphenicol, including elevated chloramphenicol serum concentrations, anemia, thrombocytopenia, reticulocytopenia, and severe metabolic acidosis. Rare manifestations of chloramphenicol toxicity that developed in this patient included neutropenia, visual field changes, and peripheral neuropathy. Chloramphenicol administration was discontinued, and hemodialysis was initiated for severe metabolic acidosis. The patient recovered with severe visual field deficits. Although chloramphenicol is rarely indicated, it remains an effective antibiotic. Healthcare providers should become familiar with the pharmacology, toxicology, and monitoring parameters for appropriate use of this antibiotic. PMID:23118672
Aerodynamic Levitation Reactor Studies of Fluorine Reactions with Refractory Ceramics

DTIC Science & Technology

1981-05-01

Melting Points of Rare-Earth Metals and Rare-Earth Trifluorides . 14 3. Aerodynamic Lavitation Flow Reactor. 15 4 Lanthanutm-Boron-Carbon Ternary Phase...the least volatile fluorides (CaF , SrT and rare-earth trifluorides ) would yield a 10% increase in w* (initially O.O cam) in about 1 hour at 1300K...measurement, and are, therefore, somewhat uncertain. The melting points of the rare-earth metals and their trifluorides are illustrated in Fig. 2. The melting
Initial diagnosis of small lymphocytic lymphoma in parotidectomy for Warthin tumour, a rare collision tumour

PubMed Central

Saxena, A; Memauri, B; Hasegawa, W

2005-01-01

Warthin tumours (WT) and malignant lymphomas are only rarely associated, and most are examples of involvement of the lymphoid stroma of WT by a disseminated lymphoma. This report describes a case where excision of a parotid mass led to the initial diagnosis of WT and small lymphocytic lymphoma (SLL). The diagnosis of SLL was confirmed by immunohistochemistry and molecular studies. The patient had stage IV A disease and is currently in chemotherapy induced complete remission. This case highlights the extremely rare association of SLL with WT and the importance of evaluation of the WT stroma, where the pale proliferation centres of SLL may mimic germinal centres of reactive lymphoid nodules. PMID:15735173
Standardization of Questions in Rare Disease Registries: The PRISM Library Project.

PubMed

Richesson, Rachel Lynn; Shereff, Denise; Andrews, James Everett

2012-10-10

Patient registries are often a helpful first step in estimating the impact and understanding the etiology of rare diseases - both requisites for the development of new diagnostics and therapeutics. The value and utility of patient registries rely on the use of both well-constructed structured research questions and relevant answer sets accompanying them. There are currently no clear standards or specifications for developing registry questions, and there are no banks of existing questions to support registry developers. This paper introduces the [Rare Disease] PRISM (Patient Registry Item Specifications and Metadata for Rare Disease) project, a library of standardized questions covering a broad spectrum of rare diseases that can be used to support the development of new registries, including Internet-based registries. A convenience sample of questions was identified from well-established (>5 years) natural history studies in various diseases and from several existing registries. Face validity of the questions was determined by review by many experts (both terminology experts at the College of American Pathologists (CAP) and research and informatics experts at the University of South Florida (USF)) for commonality, clarity, and organization. Questions were re-worded slightly, as needed, to make the full semantics of the question clear and to make the questions generalizable to multiple diseases where possible. Questions were indexed with metadata (structured and descriptive information) using a standard metadata framework to record such information as context, format, question asker and responder, and data standards information. At present, PRISM contains over 2,200 questions, with content of PRISM relevant to virtually all rare diseases. While the inclusion of disease-specific questions for thousands of rare disease organizations seeking to develop registries would present a challenge for traditional standards development organizations, the PRISM library could serve as a platform to liaison between rare disease communities and existing standardized controlled terminologies, item banks, and coding systems. If widely used, PRISM will enable the re-use of questions across registries, reduce variation in registry data collection, and facilitate a bottom-up standardization of patient registries. Although it was initially developed to fulfill an urgent need in the rare disease community for shared resources, the PRISM library of patient-directed registry questions can be a valuable resource for registries in any disease - whether common or rare. N/A.
Standardization of Questions in Rare Disease Registries: The PRISM Library Project

PubMed Central

Shereff, Denise; Andrews, James Everett

2012-01-01

Background Patient registries are often a helpful first step in estimating the impact and understanding the etiology of rare diseases - both requisites for the development of new diagnostics and therapeutics. The value and utility of patient registries rely on the use of both well-constructed structured research questions and relevant answer sets accompanying them. There are currently no clear standards or specifications for developing registry questions, and there are no banks of existing questions to support registry developers. Objective This paper introduces the [Rare Disease] PRISM (Patient Registry Item Specifications and Metadata for Rare Disease) project, a library of standardized questions covering a broad spectrum of rare diseases that can be used to support the development of new registries, including Internet-based registries. Methods A convenience sample of questions was identified from well-established (>5 years) natural history studies in various diseases and from several existing registries. Face validity of the questions was determined by review by many experts (both terminology experts at the College of American Pathologists (CAP) and research and informatics experts at the University of South Florida (USF)) for commonality, clarity, and organization. Questions were re-worded slightly, as needed, to make the full semantics of the question clear and to make the questions generalizable to multiple diseases where possible. Questions were indexed with metadata (structured and descriptive information) using a standard metadata framework to record such information as context, format, question asker and responder, and data standards information. Results At present, PRISM contains over 2,200 questions, with content of PRISM relevant to virtually all rare diseases. While the inclusion of disease-specific questions for thousands of rare disease organizations seeking to develop registries would present a challenge for traditional standards development organizations, the PRISM library could serve as a platform to liaison between rare disease communities and existing standardized controlled terminologies, item banks, and coding systems. Conclusions If widely used, PRISM will enable the re-use of questions across registries, reduce variation in registry data collection, and facilitate a bottom-up standardization of patient registries. Although it was initially developed to fulfill an urgent need in the rare disease community for shared resources, the PRISM library of patient-directed registry questions can be a valuable resource for registries in any disease – whether common or rare. Trial Registration N/A PMID:23611924

PVRL1 Variants Contribute to Non-Syndromic Cleft Lip and Palate in Multiple Populations

PubMed Central

Avila, Joseph R.; Jezewski, Peter A.; Vieira, Alexandre R.; Orioli, Iêda M.; Castilla, Eduardo E.; Christensen, Kaare; Daack-Hirsch, Sandra; Romitti, Paul A.; Murray, Jeffrey C.

2007-01-01

Poliovirus Receptor Like-1 (PVRL1) is a member of the immunoglobulin super family that acts in the initiation and maintenance of epithelial adherens junctions and is mutated in the cleft lip and palate/ectodermal dysplasia 1 syndrome (CLPED1, OMIM #225000). In addition, a common non-sense mutation in PVRL1 was discovered more often among non-syndromic sporadic clefting cases in Northern Venezuela in a previous case-control study. The present work sought to ascertain the role of PVRL1 in the sporadic forms of orofacial clefting in multiple populations. Multiple rare and common variants from all three splice isoforms were initially ascertained by sequencing 92 Iowan and 86 Filipino cases and CEPH controls. Using a family-based analysis to examine these variants, the common glycine allele of the G361V coding variant was significantly overtransmitted among all orofacial clefting phenotypes (P = 0.005). This represented G361V genotyping from over 800 Iowan, Danish, and Filipino families. Among four rare amino acid changes found within the V1 and C1 domains, S112T and T131A were found adjacent to critical amino acid positions within the V1 variable domain, regions previously shown to mediate cell-to-cell and cell-to-virus adhesion. The T131A variant was not found in over 1,300 non-affected control samples although the alanine is found in other species. The serine of the S112T variant position is conserved across all known PVRL1 sequences. Together these data suggest that both rare and common mutations within PVRL1 make a minor contribution to disrupting the initiation and regulation of cell-to-cell adhesion and downstream morphogenesis of the embryonic face. PMID:17089422
Rhodotorula Keratitis: A Rarely Encountered Ocular Pathogen

PubMed Central

Giovannini, Joseph; Lee, Rick; Zhang, Sean X.; Jun, Albert S.; Bower, Kraig S.

2014-01-01

Purpose To describe a case of fungal keratitis involving an atypical organism with confirmatory in vivo confocal microscopy and to review the literature on Rhodotorula keratitis. Methods Case report and review of the medical literature. Results A 22-year-old college student was struck in the left eye with a tree branch and subsequently developed pain, redness and photophobia. Upon presentation, visual acuity was 20/200 and there was a large epithelial defect with diffuse stromal inflammation involving the anterior one-third of the cornea. Cultures of the infiltrate were performed for bacterial, viral and fungal organisms that resulted in a positive culture for Rhodotorula mucilaginosa. Fungal elements were confirmed in vivo by confocal microscopy. The patient was treated with voriconazole initially and had amphotericin added once Rhodotorula infection was confirmed. The patient responded well clinically, and one month after therapy was initiated, the corneal infiltrate had resolved leaving mild anterior stromal haze. Upon completion of therapy at three months, the patient was asymptomatic, had a clear cornea and had a best corrected visual acuity of 20/20 in the involved eye. There was no measurable change in his manifest refraction. Conclusions Prior cases of Rhodotorula keratitis most often required surgical intervention and were associated with poor outcomes. This case shows that Rhodotorula keratitis can be successfully treated with topical antifungal agents if diagnosed early and appropriate treatment is initiated promptly. We report the first case of Rhodotorula keratitis confirmed by in vivo confocal microscopy. This is also the first description of pseudomycelium formation that has not been previously described in vivo, a morphological structure that this organism rarely demonstrates. Finally, this case shows that confocal microscopy may aid in the early diagnosis and management of fungal keratitis involving this rare but potentially damaging organism. PMID:25408670
Delayed hyperbaric oxygen therapy for air emboli after open heart surgery: case report and review of a success story.

PubMed

Niyibizi, Eva; Kembi, Guillaume Elyes; Lae, Claude; Pignel, Rodrigue; Sologashvili, Tornike

2016-12-05

The current case describes a rare diagnosis of iatrogenic air emboli after elective cardiopulmonary bypass that was successfully treated with delayed hyperbaric oxygen therapy, with good clinical evolution in spite of rare complications. A 35 years old male was admitted to the intensive care unit (ICU) for post-operative management after being placed on cardiopulmonary bypass (CPB) for an elective ventricular septal defect closure and aortic valvuloplasty. The patient initially presented with pathologically late awakening and was extubated 17 h after admission. Neurologic clinical status after extubation showed global aphasia, mental slowness and spatio-temporal disorientation. The injected cerebral CT scan was normal; the EEG was inconclusive (it showed metabolic encephalopathy without epileptic activity); and the cerebral MRI done 48 h after surgery showed multiple small subcortical acute ischemic lesions, mainly on the left fronto- parieto- temporo-occipital lobes. He was taken for hyperbaric oxygen therapy (HOT) over 54 h after cardiac surgery. The first session ended abruptly after 20 min when the patient suffered a generalised tonico-clonic seizure, necessitating a moderately rapid decompression, airway management, and antiepileptic treatment. In total, the patient received 7 HOT sessions over 6 days. He demonstrated full neurological recovery at 4 weeks and GOS (Glasgow Outcome Scale) of 5 out of 5 even after a long delay in initial management. Convulsions are a rare complication of HOT either due to reperfusion syndrome or hyperoxic toxicity and can be managed. Prior imaging by MRI or tympanic paracentesis (myringotomy) should not add further delay of treatment. HOT should be initiated upon late awakening and/or neurologic symptoms after CPB heart surgery, after exclusion of formal counter-indications, even if the delay exceeds 48 h.
A 63-year-old man with peripheral facial nerve paralysis and a pulmonary lesion.

PubMed

Yserbyt, J; Wilms, G; Lievens, Y; Nackaerts, K

2009-01-01

Occasionally, malignant neoplasms may cause peripheral facial nerve paralysis as a presenting symptom. A 63-year-old man was referred to the Emergency Department because of a peripheral facial nerve paralysis, lasting for 10 days. Initial diagnostic examinations revealed no apparent cause for this facial nerve paralysis. Chest X-ray, however, showed a suspicious tumoural mass, located in the right hilar region, as confirmed by CAT scan. The diagnosis of an advanced stage lung adenocarcinoma was finally confirmed by bronchial biopsy. MRI scanning showed diffuse brain metastases and revealed a pontine lesion as the most probable underlying cause of this case of peripheral facial nerve paralysis. Platin-based palliative chemotherapy was given, after an initial pancranial irradiation. According to the MRI findings, the pontine lesion was responsible for the peripheral facial nerve paralysis, as an initial presenting symptom in this case of lung adenocarcinoma. This clinical case of a peripheral facial nerve paralysis was caused by a pontine brain metastasis and illustrates a rather rare presenting symptom of metastatic lung cancer.
Influence of soil characteristics on rare earth fingerprints in mosses and mushrooms: Example of a pristine temperate rainforest (Slavonia, Croatia).

PubMed

Fiket, Željka; Medunić, Gordana; Furdek Turk, Martina; Ivanić, Maja; Kniewald, Goran

2017-07-01

The present study aims to investigate levels and distribution of rare earth elements (REE) in soils, mosses and mushrooms of a pristine temperate rainforest, a non-polluted natural system, in order to characterise their environmental availability and mobility. The multielement analysis of digested soil, moss and mushroom samples was performed by High Resolution Inductively Coupled Plasma Mass Spectrometry. The distribution of rare earths in mosses and mushrooms was found primarily affected by local pedological setting. Mosses displayed a consistent lithological signature with an almost insignificant REE fractionation compared to soils. Mushrooms showed differences in REE concentrations in certain parts of the fruiting body with regard to their main physiological function and indicated a significant impact of soil organic content on the overall REEs uptake. Results of our work highlight the importance of substrate characteristics on the initial levels of REEs in mosses and mushrooms. Moreover, this study provides baseline data on the rare earth element levels in mosses and mushrooms growing in a pristine forest area characterised by naturally elevated REE levels in the soil. Copyright © 2017 Elsevier Ltd. All rights reserved.
[Shift of focus in the financing of Hungarian drugs. Reimbursement for orphan drugs for treating rare diseases: financing of enzyme replacement therapy in Hungary].

PubMed

Szegedi, Márta; Molnár, Mária Judit; Boncz, Imre; Kosztolányi, György

2014-11-02

Focusing on the benefits of patients with rare disease the authors analysed the aspects of orphan medicines financed in the frame of the Hungarian social insurance system in 2012 in order to make the consumption more rational, transparent and predictable. Most of the orphan drugs were financed in the frame of compassionate use by the reimbursement system. Consequently, a great deal of crucial problems occurred in relation to the unconventional subsidized method, especially in the case of the highest cost enzyme replacement therapies. On the base of the findings, proposals of the authors are presented for access to orphan drugs, fitting to the specific professional, economical and ethical aspects of this unique field of the health care system. The primary goal is to provide a suitable subsidized method for the treatment of rare disease patients with unmet medical needs. The financial modification of orphans became indispensible in Hungary. Professionals from numerous fields dealing with rare disease patients' care expressed agreement on the issue. Transforming the orphan medicines' financial structure has been initiated according to internationally shared principles.
Capnocytophaga canimorsus infection presenting with complete splenic infarction and thrombotic thrombocytopenic purpura: a case report.

PubMed

Brichacek, Michal; Blake, Peter; Kao, Raymond

2012-12-26

Animal bites are typically harmless, but in rare cases infections introduced by such bites can be fatal. Capnocytophaga canimorsus, found in the normal oral flora of dogs, has the potential to cause conditions ranging from minor cellulitis to fatal sepsis. The tendency of C. canimorsus infections to present with varied symptoms, the organism's fastidious nature, and difficulty of culturing make this a challenging diagnosis. Rarely, bacterial cytotoxins such as those produced by C. canimorsus may act as causative agents of TTP, further complicating the diagnosis. Early recognition is crucial for survival, and the variability of presentation must be appreciated. We present the first known case of C. canimorsus infection resulting in TTP that initially presented as splenic infarction. 72-year-old Caucasian male presented with a four-day history of abdominal pain, nausea, vomiting, diarrhea, and intermittent confusion. On presentation, vital signs were stable and the patient was afebrile. Physical examination was unremarkable apart from petechiae on the inner left thigh, and extreme diffuse abdominal pain to palpation and percussion along with positive rebound tenderness. Initial investigations revealed leukocytosis with left shift and thrombocytopenia, but normal liver enzymes, cardiac enzymes, lipase, INR and PTT. Abdominal CT demonstrated a non-enhancing spleen and hemoperitoneum, suggesting complete splenic infarction. Although the patient remained afebrile, he continued deteriorating over the next two days with worsening thrombocytopenia. After becoming febrile, he developed microangiopathic hemolytic anemia and hemodynamic instability, and soon after was intubated due to hypoxic respiratory failure and decreased consciousness. Plasma exchange was initiated but subsequently stopped when positive blood cultures grew a gram-negative organism. The patient progressively improved following therapy with piperacillin-tazobactam, which was switched to imipenem, then meropenem when Capnocytophaga was identified. There is a common misconception amongst practitioners that the presence of systemic infection excludes the possibility of TTP and vice versa. This case emphasizes that TTP may occur secondary to a systemic infection, thereby allowing the two processes to coexist. It is important to maintain a wide differential when considering the diagnosis of either TTP or C. canimorsus infection since delays in treatment may have fatal consequences.
Disseminated tuberculous myositis in a child with acute myelogenous leukemia.

PubMed

Chen, Yu-Chieh; Sheen, Jiunn-Ming; Huang, Li-Tung; Wu, Kuan-Sheng; Hsiao, Chih-Cheng

2009-04-01

Tuberculous myositis is extremely rare, even in immunocompromised hosts. We present a case of disseminated tuberculous myositis in a girl with secondary acute myelogenous Leukemia following successful chemotherapy for undifferentiated sarcoma of the maxillary sinus. The diagnosis was established by direct visualization of acid-fast bacilli in the biopsied nodule and by typical pathologic findings. Three weeks after initiation of antituberculosis treatment, the patient experienced both clinical and radiologic improvement.
Cutaneous Leishmaniasis in an American Adolescent Returning From Israel.

PubMed

Ganjaei, Kimia G; Lawton, Kira; Gaur, Sunanda

2018-06-06

We present here the case of a healthy 16-year-old American girl who returned from an organized trip to Israel with cutaneous leishmaniasis caused by Leishmania major; the infection was treated successfully with paromomycin-gentamicin ointment. She was initially misdiagnosed with staphylococcal and pseudomonal cellulitis. Although cutaneous leishmaniasis is seen only rarely in the United States, it should be considered when diagnosing new skin lesions after travel to affected countries.
Chemical meningitis from a leaking craniopharyngioma: a case report.

PubMed

Hakizimana, David; Poulsgaard, Lars; Fugleholm, Kåre

2018-06-01

Recurrent chemical meningitis from cyclic leakage of cyst content from a craniopharyngioma is a rare phenomenon. Here, we report a case of leaking cystic craniopharyngioma presenting with recurrent episodes of sterile meningitis, depression, and paranoia. The diagnosis after an initial craniotomy and exploration was hypophysitis. Signs and symptoms were not alleviated by puncture and biopsy of the tumour but they disappeared after complete resection with a final histological diagnosis of craniopharyngioma.
Cerebral Paragonimiasis Presenting with Sudden Death.

PubMed

Amaro, Deirdre E; Cowell, Annie; Tuohy, Marion J; Procop, Gary W; Morhaime, Jacquelyn; Reed, Sharon L

2016-12-07

A 58-year-old Korean-born woman with a history of seizures and psychiatric issues was found dead at home. Autopsy was notable for large, calcified nodules that had nearly replaced her right temporal lobe. Histologic examination revealed the presence of Paragonimus eggs. This case demonstrates a rare manifestation of an aberrantly migrated lung fluke that resulted in epilepsy and sudden death years after the initial infection. © The American Society of Tropical Medicine and Hygiene.
Spontaneous dermal abscesses and ulcers as a result of Serratia marcescens.

PubMed

Friedman, N Deborah; Peterson, Neeraja B; Sumner, William T; Alexander, Barbara D

2003-08-01

Serratia sp have only rarely been reported as isolates from leg ulcers. We describe the case of a middle-aged man with a medical history significant for alcohol-induced cirrhosis who presented with rapidly progressive skin ulcers initially starting as purple nodules. These skin ulcers and underlying dermal abscesses were found to be a result of S marcescens, with the presumed portal of entry being a toe-web infection.
Vernet syndrome resulting from varicella zoster virus infection-a very rare clinical presentation of a common viral infection.

PubMed

Ferreira, João; Franco, Ana; Teodoro, Tiago; Coelho, Miguel; Albuquerque, Luísa

2018-03-12

Vernet syndrome is a unilateral palsy of glossopharyngeal, vagus, and accessory nerves. Varicella zoster virus (VZV) infection has rarely been described as a possible cause. A 76-year-old man presented with 1-week-long symptoms of dysphonia, dysphagia, and weakness of the right shoulder elevation, accompanied by a mild right temporal parietal headache with radiation to the ipsilateral ear. Physical examination showed signs compatible with a right XI, X, and XI cranial nerves involvement and also several vesicular lesions in the right ear's concha. He had a personal history of poliomyelitis and chickenpox. Laringoscopy demonstrated right vocal cord palsy. Brain MRI showed thickening and enhancement of right lower cranial nerves and an enhancing nodular lesion in the ipsilateral jugular foramen, in T1 weighted images with gadolinium. Cerebrospinal fluid (CSF) analysis disclosed a mild lymphocytic pleocytosis and absence of VZV-DNA by PCR analysis. Serum VZV IgM and IgG antibodies were positive. The patient had a noticeable clinical improvement after initiation of acyclovir and prednisolone therapy. The presentation of a VZV infection with isolated IX, X, and XI cranial nerves palsy is extremely rare. In our case, the diagnosis of Vernet syndrome as a result of VZV infection was made essentially from clinical findings and supported by analytical and imaging data.
Collaboration for rare disease drug discovery research.

PubMed

Litterman, Nadia K; Rhee, Michele; Swinney, David C; Ekins, Sean

2014-01-01

Rare disease research has reached a tipping point, with the confluence of scientific and technologic developments that if appropriately harnessed, could lead to key breakthroughs and treatments for this set of devastating disorders. Industry-wide trends have revealed that the traditional drug discovery research and development (R&D) model is no longer viable, and drug companies are evolving their approach. Rather than only pursue blockbuster therapeutics for heterogeneous, common diseases, drug companies have increasingly begun to shift their focus to rare diseases. In academia, advances in genetics analyses and disease mechanisms have allowed scientific understanding to mature, but the lack of funding and translational capability severely limits the rare disease research that leads to clinical trials. Simultaneously, there is a movement towards increased research collaboration, more data sharing, and heightened engagement and active involvement by patients, advocates, and foundations. The growth in networks and social networking tools presents an opportunity to help reach other patients but also find researchers and build collaborations. The growth of collaborative software that can enable researchers to share their data could also enable rare disease patients and foundations to manage their portfolio of funded projects for developing new therapeutics and suggest drug repurposing opportunities. Still there are many thousands of diseases without treatments and with only fragmented research efforts. We will describe some recent progress in several rare diseases used as examples and propose how collaborations could be facilitated. We propose that the development of a center of excellence that integrates and shares informatics resources for rare diseases sponsored by all of the stakeholders would help foster these initiatives.
Collaboration for rare disease drug discovery research

PubMed Central

Litterman, Nadia K.; Rhee, Michele; Swinney, David C.; Ekins, Sean

2014-01-01

Rare disease research has reached a tipping point, with the confluence of scientific and technologic developments that if appropriately harnessed, could lead to key breakthroughs and treatments for this set of devastating disorders. Industry-wide trends have revealed that the traditional drug discovery research and development (R&D) model is no longer viable, and drug companies are evolving their approach. Rather than only pursue blockbuster therapeutics for heterogeneous, common diseases, drug companies have increasingly begun to shift their focus to rare diseases. In academia, advances in genetics analyses and disease mechanisms have allowed scientific understanding to mature, but the lack of funding and translational capability severely limits the rare disease research that leads to clinical trials. Simultaneously, there is a movement towards increased research collaboration, more data sharing, and heightened engagement and active involvement by patients, advocates, and foundations. The growth in networks and social networking tools presents an opportunity to help reach other patients but also find researchers and build collaborations. The growth of collaborative software that can enable researchers to share their data could also enable rare disease patients and foundations to manage their portfolio of funded projects for developing new therapeutics and suggest drug repurposing opportunities. Still there are many thousands of diseases without treatments and with only fragmented research efforts. We will describe some recent progress in several rare diseases used as examples and propose how collaborations could be facilitated. We propose that the development of a center of excellence that integrates and shares informatics resources for rare diseases sponsored by all of the stakeholders would help foster these initiatives. PMID:25685324
Rare neurological diseases: a Pandora's box for neurology (an European and Italian perspective).

PubMed

Federico, A

2013-02-01

Rare neurological diseases are a heterogeneous group of disorders mainly affecting the central and peripheral nervous systems and muscle, representing almost 50% of all rare diseases; this means that neurologists are among the main specialists involved in their diagnosis and research. However, the classical interest of neurologists is primarily directed towards the more common diseases such as dementia, multiple sclerosis, headache, epilepsy and stroke, while avoiding the follow-up of rare neurological diseases that have, taken altogether, had such a major impact on health systems in Europe as well as in other countries around the world. Rare diseases are also considered 'orphan' diseases, as only a few of them have treatments. In Europe as in the USA in recent years, considerable interest has been generated by these disorders, thereby stimulating more specific programs of care and management. In fact, the difficulty of diagnosis and the need for super-specialization in this field has led to the organization of dedicated centers in different countries to collect patients' data within a network for diagnosis, treatment and research. The present report describes our experience in Siena with such a reference center for these disorders and their diagnosis and treatment, and also includes a discussion of the organization of care for rare neurological diseases in Europe and Italy. Finally, this report also covers the new initiative of the Italian Neurological Society to promote an information center for rare neurological diseases to disseminate information and knowledge to all neurologists working in this field. Copyright © 2013 Elsevier Masson SAS. All rights reserved.
Pleural effusion as the initial clinical presentation in disseminated cryptococcosis and fungaemia: an unusual manifestation and a literature review.

PubMed

Chen, Mayun; Wang, Xiaomi; Yu, Xianjuan; Dai, Caijun; Chen, Dunshun; Yu, Chang; Xu, Xiaomei; Yao, Dan; Yang, Li; Li, Yuping; Wang, Liangxing; Huang, Xiaoying

2015-09-22

Cryptococcus neoformans infection usually presents as chronic meningitis and is increasingly being recognized in immunocompromised patients. Presentation with pleural effusion is rare in cryptococcal disease; in fact, only 4 cases of pleural effusion as the initial clinical presentation in cryptococcosis have been reported in English-language literature to date. We report the first case of pleural effusion as the initial clinical presentation in a renal transplant recipient who was initially misdiagnosed with tuberculous pleuritis but who then developed fungaemia and disseminated cryptococcosis. The examination of this rare manifestation and the accompanying literature review will contribute to increased recognition of the disease and a reduction in misdiagnoses. We describe a 63-year-old male renal transplant recipient on an immunosuppressive regimen who was admitted for left pleural effusion and fever. Cytological examinations and pleural fluid culture were nonspecific and negative. Thoracoscopy only found chronic, nonspecific inflammation with fibrosis in the pleura. After empirical anti-tuberculous therapy, the patient developed an elevated temperature, a severe headache and vomiting and fainted in the ward. Cryptococci were specifically found in the cerebrospinal fluid following lumbar puncture. Blood cultures were twice positive for C. neoformans one week later. He was transferred to the respiratory intensive care unit (RICU) immediately and was placed on non-invasive ventilation for respiratory failure for 2 days. He developed meningoencephalitis and fungaemia with C. neoformans during hospitalization. He was given amphotericin B liposome combined with 5-flucytosine and voriconazole for first 11 days, then amphotericin B liposome combined with 5-flucytosine sustained to 8 weeks, after that changed to fluconazole for maintenance. His condition improved after antifungal treatment, non-invasive ventilation and other support. Further pathological consultation and periodic acid-Schiff staining revealed Cryptococcus organisms in pleural sections, providing reliable evidence for cryptococcal pleuritis. Pleural effusion is an unusual manifestation of cryptococcosis. Cryptococcal infection must be considered in the case of patients on immunosuppressives, especially solid-organ transplant recipients, who present with pleural effusion, even if pleural fluid culture is negative. Close communication between the pathologist and the clinician, multiple special biopsy section stains and careful review are important and may contribute to decreasing misdiagnosis.
Longest delayed hemothorax reported after blunt chest injury.

PubMed

Yap, Darren; Ng, Miane; Chaudhury, Madhu; Mbakada, Nik

2018-01-01

Blunt chest injury is a common presentation to the emergency department. However, a delayed hemothorax after blunt trauma is rare; current literature reports a delay of up to 30days. We present a case of 44-day delay in hemothorax which has not been previously reported in current literature. A 52-year-old Caucasian male first presented to the emergency department complaining of persistent right sided chest pain 2weeks after having slipped on a wet surface at home. His initial chest X-ray showed fractures of the right 7th and 8th ribs without a hemothorax or pneumothorax. He returned 30days after the initial consultation (44days post-trauma) having increasing shortness of breath. A chest X-ray this time revealed a large right hemothorax and 1850ml of blood drained from his chest. There was a complete resolution of the hemothorax within 48h and the patient was discharged after a 6-week follow-up with the chest physicians. Delayed hemothorax after blunt trauma is a rare clinical occurrence but associated with significant morbidity and mortality. The management of delayed hemothorax includes draining the hemothorax and controlling the bleeding. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: Emergency physicians should be vigilant and weary that hemothorax could be a possibility after a chest injury despite a delay in presentation. A knowledge of delayed hemothorax will prompt physicians in providing important advice, warning signs and information to patients after a chest injury to avoid a delay in seeking medical attention. Copyright © 2017 Elsevier Inc. All rights reserved.
Blastic plasmacytoid dendritic cell neoplasm: clinical features in 90 patients.

PubMed

Julia, F; Petrella, T; Beylot-Barry, M; Bagot, M; Lipsker, D; Machet, L; Joly, P; Dereure, O; Wetterwald, M; d'Incan, M; Grange, F; Cornillon, J; Tertian, G; Maubec, E; Saiag, P; Barete, S; Templier, I; Aubin, F; Dalle, S

2013-09-01

Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare disease characterized by malignant proliferation of a contingent blastic plasmacytoid dendritic cell. This rare entity is recognized mostly by cutaneous spreading, or not having a leukaemic component. The prognosis is very poor. To study a large cohort of 90 patients with BPDCN, to define additional symptoms to form a correct diagnosis earlier, and to manage such patients accordingly. We retrospectively reviewed BPDCN cases registered in the French Study Group on Cutaneous Lymphoma database between November 1995 and January 2012. Ninety patients were studied. Demographic data, clinical presentation, initial staging and outcome were recorded. The group contained 62 male and 28 female patients (sex ratio 2·2). Their ages ranged from 8 to 103 years at the time of diagnosis (mean 67·2 years). Three major different clinical presentations were identified. Sixty-six patients (73%) presented with nodular lesions only, 11 patients (12%) with 'bruise-like' patches and 13 (14%) with disseminated lesions (patches and nodules). Mucosal lesions were seen in five patients (6%). The median survival in patients with BPDCN was 12 months. We here distinguish three different clinical presentations of BPDCN. A nodular pattern is a more common feature than the originally reported 'bruise-like' pattern. Despite the fact that BPDCN may initially appear as a localized skin tumour, aggressive management including allogeneic bone marrow transplantation should be considered immediately, as it is currently the only option associated with long-term survival. © 2013 The Authors BJD © 2013 British Association of Dermatologists.
A sex-specific association of common variants of neuroligin genes (NLGN3 and NLGN4X) with autism spectrum disorders in a Chinese Han cohort.

PubMed

Yu, Jindan; He, Xue; Yao, Dan; Li, Zhongyue; Li, Hui; Zhao, Zhengyan

2011-05-14

Synaptic genes, NLGN3 and NLGN4X, two homologous members of the neuroligin family, have been supposed as predisposition loci for autism spectrum disorders (ASDs), and defects of these two genes have been identified in a small fraction of individuals with ASDs. But no such rare variant in these two genes has as yet been adequately replicated in Chinese population and no common variant has been further investigated to be associated with ASDs. 7 known ASDs-related rare variants in NLGN3 and NLGN4X genes were screened for replication of the initial findings and 12 intronic tagging single nucleotide polymorphisms (SNPs) were genotyped for case-control association analysis in a total of 229 ASDs cases and 184 control individuals in a Chinese Han cohort, using matrix-assisted laser desorption/ionization time-of-flight (MALDI-TOF) mass spectrometry. We found that a common intronic variant, SNP rs4844285 in NLGN3 gene, and a specific 3-marker haplotype XA-XG-XT (rs11795613-rs4844285-rs4844286) containing this individual SNP were associated with ASDs and showed a male bias, even after correction for multiple testing (SNP allele: P = 0.048, haplotype:P = 0.032). Simultaneously, none of these 7 known rare mutation of NLGN3 and NLGN4X genes was identified, neither in our patients with ASDs nor controls, giving further evidence that these known rare variants might be not enriched in Chinese Han cohort. The present study provides initial evidence that a common variant in NLGN3 gene may play a role in the etiology of ASDs among affected males in Chinese Han population, and further supports the hypothesis that defect of synapse might involvement in the pathophysiology of ASDs.

Primary Vaginal Melanoma, A Rare and Aggressive Entity. A Case Report and Review of the Literature

PubMed Central

KALAMPOKAS, EMMANOUIL; KALAMPOKAS, THEODOROS; DAMASKOS, CHRISTOS

2017-01-01

Malignant melanoma of the vagina is a rare, aggressive malignancy of poor prognosis. It principally affects post-menopausal women, with a mean age of 57 years, and the factors that contribute to its appearance are not well known. The first case of primary malignant vaginal melanoma was reported in 1887 and modern literature has noted about 500 cases, globally. Vaginal melanomas constitute 0.3% of all malignant melanomas and fewer than 3% of all vaginal carcinomas. To date there is no clear consensus regarding treatment. An early, accurate diagnosis and prompt investigation is essential in reaching appropriate treatment decisions. We present a clinical case of primary vaginal melanoma and review the literature briefly, presenting the current treatment plans and updates of this rare gynecological malignancy. Considerations, epidemiology, associated risk factors, response to therapy and expected outcome are also discussed. Conclusion: Primary malignant vaginal melanoma is a rare but aggressive melanoma that affects women in their 6th and 7th decade of life. The tumor appears as a dark node or spindle but can also be amelanotic. The size of the tumor is indicative of the prognostic factors. Surgery seems to be the only efficient treatment. Postoperative adjuvant therapy might help in preventing recurrence of the tumor. The survival rate is largely dependent on nodal and distant metastasis of the disease after initial tumor resection. There is a dire need to form a proper therapeutic regime to control this disease. PMID:28064232
Inflammatory Breast Carcinoma Presenting with Two Different Patterns of Cutaneous Metastases: Carcinoma Telangiectaticum and Carcinoma Erysipeloides

PubMed Central

Yaghoobi, Reza; Talaizade, Abdolhasan; Lal, Karan; Ranjbari, Nastaran; Sohrabiaan, Nasibe

2015-01-01

Cutaneous metastases can have many different clinical presentations. They are seen in patients with advanced malignant disease; however, they can be the initial manifestation of undetected malignancies. Inflammatory breast carcinoma is a rare and aggressive form of breast cancer that has a nonspecific appearance mimicking many benign conditions including mastitis, breast abscesses, and/or dermatitis. The authors report the case of a 40-year-old woman with inflammatory breast carcinoma presenting with violaceous papulovesicular lesions resembling lymphangioma circumscriptum and erythematous patches resembling erysipelas. These lesions represent two different types of cutaneous metastases, both of which were the initial signs of inflammatory breast carcinoma in the patient described herein. Skin biopsy of lesions confirmed invasive breast cancer and further prompted a work up for inflammatory breast carcinoma. This case demonstrates the importance of follow-up for all breast lesions, even those considered to be of benign nature, for they can be presenting signs of metastatic breast cancer. PMID:26345728
Lymphocutaneous sporotrichosis in an adolescent girl presenting as mycetoma.

PubMed

Tilak, Ragini; Kumari, Varsha; Bansal, Manish; Sharma, Taniya; Pandey, Shyam Sunder

2012-09-01

A 13-year-old girl presented with multiple painless purulent ulcers with raised borders on the medial aspect of the sole of her right foot associated with inguinal lymphadenopathy for the past 4 years. There was history of local trauma at the site prior to the formation of ulcers. There were no other significant associated signs or symptoms. The patient was initially treated with multiple antibiotics with minimal improvement. Fungal cultures of biopsy specimens demonstrated the presence of colonies of Sporothrix schenckii thus confirming the diagnosis of sporotrichosis. Oral itraconazole at the dose of 100 mg twice daily was initiated with marked response at 4 weeks. This case demonstrated a rare morphological presentation of the lymphocutaneous sporotrichosis as mycetoma. The possible diagnosis of sporotrichosis should be kept in mind in such a clinical presentation not responding to antibiotics. Cutaneous sporotrichosis should be diagnosed and treated as early as possible because untreated cases may disseminate to cause visceral involvement with fatal outcome in immunocompromised patients.
Pseudohypoparathyroidism: a rare but important cause of hypocalcaemia

PubMed Central

Chong, Pui Lin; Meeking, Darryl R

2013-01-01

We present a 46-year-old Caucasian lady with symptomatic hypocalcaemia. Investigations revealed markedly raised parathyroid hormone (PTH) levels with vitamin D deficiency. A number of conditions causing secondary hyperparathyroidism were ruled out from her medical history and initial investigations. The main differential diagnoses were vitamin D deficiency and PTH resistance (pseudohypoparathyroidism, PHP). With high-normal serum phosphate and normal alkaline phosphatase, and a lack of symptoms associated with osteomalacia, vitamin D deficiency alone was unlikely to be the cause of hypocalcaemia. Given a normal physical appearance, genetic testing was arranged and confirmed the diagnosis of PHP type Ib. She is currently taking activated vitamin D to maintain calcium homeostasis. PTH resistance is the hallmark of PHP, a rare complex genetic disorder, which can be easily missed resulting in potentially serious consequences. PMID:23345494
Anetoderma due to secondary syphilis: Report of two cases and discussion of the histopathological findings.

PubMed

Veasey, John V; Lellis, Rute F; Porto, Renê L; Mattei, Gladys Ma

2017-12-01

Anetoderma is a rare benign condition of diverse etiology whose characteristic is the diminution or absence of the dermal elastic fibers. Classified as primary and secondary, the latter associated with tumors, inflammatory, and infectious diseases. Although the etiology of the lesions is well described in literature, the pathogenesis is still poorly determined. Anetoderma in syphilis is rare, and occurs even in the most uncommon cutaneous manifestations of the disease, such as the nodular form. In order to better understand the changes that lead to elastolysis, we propose a better correlation with the histopathological findings of the lesions that precede it. We present two cases of anetoderma secondary to syphilis, whose clinical aspects resembled the pattern of their initial secondary syphilis rash.
Oesophageal foreign body and a double aortic arch: rare dual pathology.

PubMed

O'Connor, T E; Cooney, T

2009-12-01

We report the rare case of an oesophageal foreign body which lodged above the site of oesophageal compression by a double aortic arch. Case report and a review of the literature surrounding the classification, embryology, diagnosis and management of vascular rings and slings. An eight-month-old male infant presented with symptoms of tracheal compression following ingestion of an oesophageal foreign body. Following removal of the oesophageal foreign body, the infant's symptoms improved initially. However, subsequent recurrence of respiratory symptoms lead to a repeat bronchoscopy and the diagnosis of a coexisting double aortic arch, causing tracheal and oesophageal compression. To our knowledge, this is only the second reported case of a double aortic arch being diagnosed in a patient following removal of an oesophageal foreign body.
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.
Chronic Manganese Toxicity Associated with Voltage-Gated Potassium Channel Complex Antibodies in a Relapsing Neuropsychiatric Disorder

PubMed Central

Ho, Cyrus S.H.; Quek, Amy M.L.

2018-01-01

Heavy metal poisoning is a rare but important cause of encephalopathy. Manganese (Mn) toxicity is especially rare in the modern world, and clinicians’ lack of recognition of its neuropsychiatric manifestations can lead to misdiagnosis and mismanagement. We describe the case of a man who presented with recurrent episodes of confusion, psychosis, dystonic limb movement and cognitive impairment and was initially diagnosed with anti-voltage-gated potassium channel (VGKC) complex limbic encephalitis in view of previous positive autoantibodies. His failure to respond to immunotherapy prompted testing for heavy metal poisoning, which was positive for Mn. This is the first report to examine an association between Mn and VGKC antibodies and the effects of Mn on functional brain activity using functional near-infrared spectroscopy (fNIRS). PMID:29669989
Chronic Manganese Toxicity Associated with Voltage-Gated Potassium Channel Complex Antibodies in a Relapsing Neuropsychiatric Disorder.

PubMed

Ho, Cyrus S H; Ho, Roger C M; Quek, Amy M L

2018-04-18

Heavy metal poisoning is a rare but important cause of encephalopathy. Manganese (Mn) toxicity is especially rare in the modern world, and clinicians’ lack of recognition of its neuropsychiatric manifestations can lead to misdiagnosis and mismanagement. We describe the case of a man who presented with recurrent episodes of confusion, psychosis, dystonic limb movement and cognitive impairment and was initially diagnosed with anti-voltage-gated potassium channel (VGKC) complex limbic encephalitis in view of previous positive autoantibodies. His failure to respond to immunotherapy prompted testing for heavy metal poisoning, which was positive for Mn. This is the first report to examine an association between Mn and VGKC antibodies and the effects of Mn on functional brain activity using functional near-infrared spectroscopy (fNIRS).
KILT (Kidney and IVC Abnormalities with Leg Thrombosis) Syndrome in a 41-Years-Old Man with Loin Pain and Fever.

PubMed

Fung, James Kiujing; Yeung, Victor Hip Wo; Chu, Sau Kwan; Man, Chi Wan

2017-05-01

KILT syndrome is a rare condition composing the triad of kidney and inferior vena cava anomaly and extensive venous thrombosis. We present a case of newly diagnosed KILT syndrome in a 41-years-old gentleman presenting with loin pain and fever. Reviewing previous case reports, KILT syndrome is usually an incidental finding on imaging studies and there is a wide scope of initial clinical presentations. However, recent evidence suggests IVC anomaly may have caused subsequent renal hypoplasia. Identification of the underlying etiology may be helpful in planning early vascular intervention to treat the condition.
Adult-onset Minimal Change Disease with IgA Nephropathy and Hepatitis C

PubMed Central

Chowdhury, Waliul; Saleem, Tahira Sabeen; Lodhi, Muhammad Uzair; Syed, Intekhab Askari; Iqbal, Hafiz Imran

2018-01-01

Minimal change disease (MCD) is one of the most common causes of nephrotic syndrome in children, leading to heavy proteinuria and edema. However, it is not as common in adults. Adult-onset minimal change disease with IgA nephropathy is rare. The initial presentation of heavy proteinuria and edema with effacement of podocytes on electron microscopy (EM) should lead the physician to suspect minimal change disease regardless of age. We present a 44-year-old male patient with a history of hepatitis C virus (HCV) who presented with sudden onset of lower extremity edema and 6.6 grams (g) of proteinuria per day. PMID:29682437
Diabetes insipidus as a rare cause of acute cognitive impairment in multiple sclerosis.

PubMed

Tiedje, V; Schlamann, M; Führer, D; Moeller, L C

2013-10-01

Multiple sclerosis (MS) is a complex neurodegenerative disease presenting with a diversity of clinical symptoms including palsy and cognitive impairment. We present a 59-year-old woman with a history of secondary progressive MS since 1987, who was referred to our department because of recent onset of confusion and polydipsia. Initial lab tests showed mildly elevated serum sodium levels and low urine osmolality. Under water deprivation, diuresis and low urine osmolality persisted and serum sodium levels rose above 150 mmol/l. Oral desmopressin resulted in normalisation of serum sodium as well as urine osmolarity, confirming a diagnosis of central diabetes insipidus. As drug-induced diabetes could be excluded, pituitary magnetic resonance imaging (MRI) was performed. A demyelinating lesion was detected in the hypothalamus. The patient was started on oral desmopressin treatment (0.2 mg/day). Fluid intake and serum sodium levels have since remained normal. In summary, we report the rare case of a patient presenting with diabetes insipidus due to progressive MS. Diabetes insipidus should be considered in MS patients who develop new onset of polydipsia.
Cryptococcal cerebellitis in no-VIH patient

PubMed Central

Zamora Bastidas, Tomas Omar; Potosí García, Jorge Andrés; Díaz Idrobo, Bairon

2017-01-01

Abstract Introduction: Cryptococcosis is an opportunistic fungal infection whose etiology is Cryptococcus neofromans / C. gattii, complex which affects immunocompromised patients mainly. Meningeal infection is one of the most common presentations, but cerebellar affection is rare. Case Description: Male patient with 65 old years, from an area of subtropical climate with chronic exposure to poultry, without pathological antecedents, who presented clinical picture consistent with headache, fever, seizures and altered mental status. Clinical findings and diagnostic methods: Initially without menigeal signs or intracranial hypertension and normal neurological examination. Later, the patient developed ataxia, dysdiadochokinesia and limb loss. By lumbar punction and image of nuclear magnetic resonance (NMR) cerebellitis cryptococcal was diagnosticated. Treatment: Antifungal therapy with amphotericin B and fluconazole was performed, however the patient died. Clinical Relevance: The cryptococcosis has different presentations, it´s a disease whose incidence has been increasing since the advent of the HIV / AIDS pandemy, however the commitment of the encephalic parenchyma and in particular the cerebellum is considered rare. In this way we are facing the first case of cryptococcal cerebellitis in our midst. PMID:29021643
The role of registries in rare genetic lipid disorders: Review and introduction of the first global registry in lipoprotein lipase deficiency.

PubMed

Steinhagen-Thiessen, Elisabeth; Stroes, Erik; Soran, Handrean; Johnson, Colin; Moulin, Philippe; Iotti, Giorgio; Zibellini, Marco; Ossenkoppele, Bas; Dippel, Michaela; Averna, Maurizio R

2017-07-01

A good understanding of the natural history of rare genetic lipid disorders is a pre-requisite for successful patient management. Disease registries have been helpful in this regard. Lipoprotein Lipase Deficiency (LPLD) is a rare, autosomal-recessive lipid disorder characterized by severe hypertriglyceridemia and a very high risk for recurrent acute pancreatitis, however, only limited data are available on its natural course. Alipogene tiparvovec (Glybera ® ) is the first gene therapy to receive Marketing Authorization in the European Union; GENIALL (GENetherapy In the MAnagement of Lipoprotein Lipase Deficiency), a 15-year registry focusing on LPLD was launched in 2014 as part of its Risk Management Plan. The aim of this publication is to introduce the GENIALL Registry within a structured literature review of registries in rare genetic lipid disorders. A total of 11 relevant initiatives/registries were identified (homozygous Familial Hypercholesterolemia (hoFH) [n = 5]; LPLD [n = 1]; Lysosomal Acid Lipase Deficiency [LALD, n = 1], detection of mutations in genetic lipid disorders [n = 4]). Besides one product registry in hoFH and the LALD registry, all other initiatives are local or country-specific. GENIALL is the first global prospective registry in LPLD that will collect physician and patient generated data on the natural course of LPLD, as well as long-term outcomes of gene therapy. There is a limited number of international initiatives focusing on the natural course of specific rare genetic lipid disorders. The GENIALL LPLD Registry could be the first step towards a future broader global initiative that collects data related to familial chylomicronemia syndrome and their underlying genetic causes. Copyright © 2016. Published by Elsevier B.V.
Syncope as initial symptom for nephrotic syndrome: a case report

PubMed Central

Wu, Xuemei; Wang, Guangliang; Feng, Jiachun

2015-01-01

Although syncope and nephrotic syndrome are frequently encountered independently in pediatric practice, syncope as the initial symptom for nephrotic syndrome is rarely observed in the pediatric age group. In this report, we present the case of 3-year-old boy with nephrotic syndrome who presented with a history of three episodes of syncope before admission. The syncope occurred after excessive fluid loss or inadequate intake of fluids and was relieved spontaneously. History taking revealed that the early morning palpebral edema, and laboratory tests showed decreased plasma protein levels and elevated serum lipid levels. Nephrotic syndrome was diagnosed, but could not be confirmed histopathologically because the patient’s parent refused consent for biopsy. The patient was managed with fluid expansion, correction of acidosis, and improvement of microcirculation to prevent recurrence of syncope, and glucocorticoids were administered to prevent disease progression. PMID:26629237
Extramedullary plasmacytoma of the testicle.

PubMed

Carrion, Diego M; Álvarez-Maestro, Mario; Gómez Rivas, Juan; González-Peramato, Pilar; Cisneros Ledo, Jesús

2017-12-01

We present the case of a patient diagnosed with a testicular extramedullary plasmacytoma (EMP), and perform a brief review of the literature of this pathology. A 64 year-old male patient, with history of multiple myeloma successfully treated three years before, presented with left testicular swelling. Initial work-up was compatible with a testicular tumor and radical inguinal orchiectomy was performed. Histologic examination of the testis revealed extensive intertubular infiltration by CD138 and CD56 atypical plasma cells, with diffuse staining for IgA, compatible with EMP. Invasion of the testis in multiple myeloma patients as a recurrence of the disease is an extremely rare condition, as EMPs are more common in other organ systems. Initial treatment should be the same as a primary testicular tumor with radical inguinal orchiectomy, and definitive diagnosis is established in histologic analysis.
A rare case of failed healing in previously burned skin after a secondary burns.

PubMed

Goldie, Stephen J; Parsons, Shaun; Menezes, Hana; Ives, Andrew; Cleland, Heather

2017-01-01

Patients presenting with large surface area burns are common in our practice; however, patients with a secondary large burn on pre-existing burn scars and grafts are rare and not reported. We report on an unusual case of a patient sustaining a secondary large burn to areas previously injured by a burn from a different mechanism. We discuss the potential implications when managing a case like this and suggest potential biological reasons why the skin may behave differently. Our patient was a 33-year-old man who presented with a 5% TBSA burn on skin scarred by a previous 40% total body surface area (TBSA) burn and skin grafts. Initially assessed as superficial partial thickness in depth, the wounds were treated conservatively with dressings; however, they failed to heal and became infected requiring surgical management. Burns sustained in areas of previous burn scars and grafts may behave differently to normal patterns of healing, requiring more aggressive management and surgical intervention at an early stage.
A rare case of choledochal cyst with pancreas divisum: case presentation and literature review.

PubMed

Ransom-Rodríguez, Adrián; Blachman-Braun, Ruben; Sánchez-García Ramos, Emilio; Varela-Prieto, Jesús; Rosas-Lezama, Erick; Mercado, Miguel Ángel

2017-02-01

Choledochal cysts are rare congenital malformations of the bile duct characterized by dilatations of the intrahepatic and/or extrahepatic portion of the biliary tree, they are associated to an anomalous arrangement of the pancreaticobiliary duct. Pancreas divisum results from a fusion failure of the pancreatic buds. The coexistence of pancreas divisum and choledochal cyst in adults has been reported in less than 10 well documented cases. This article presents a case of a 42-year-old Peruvian man with intermittent episodes of abdominal pain, initially diagnosed with choledocholithiasis, who underwent open cholecystectomy. During surgery, a diagnosis of choledochal cyst and pancreas divisum was made, and therefore a hepaticoduodenostomy was performed. The patient was referred to our hospital due to persistence of abdominal pain. After admission, a papillectomy was achieved without further complications. A cyst resection and dismantling of hepaticoduodenostomy with Roux-en-Y was performed 8 years later. During the subsequent 18-month follow-up, the patient remains asymptomatic.
Primary non-Hodgkin's lymphoma of the infratemporal fossa: a rare case report.

PubMed

Thakur, Jagdeep S; Minhas, Ravinder S; Mohindroo, Narinder K; Sharma, Dev R; Mohindroo, Shobha; Thakur, Anamika

2009-06-21

The head and neck are two of the most common sites of extranodal non-Hodgkin's lymphoma (NHL). However, primary tumors of the infratemporal fossa are infrequent, and NHL in this region is extremely rare. We present a case of a 41-year-old female that presented with swelling in the right preauricular region that had persisted for the past two years. The patient was diagnosed as having a small lymphocytic NHL. She initially underwent chemo-radiation but reported relapse. The tumor was excised and again the patient underwent chemotherapy. The patient remained symptomatic and developed a second primary squamous cell carcinoma in the right retromolar trigone. We discussed NHL with an emphasis on extranodal manifestations. Extranodal NHL that is limited to a single site can be managed by surgery and regular follow up. To the best of our knowledge, this is only the second case of primary NHL of the infratemporal fossa to be reported in the literature.
Emphysematous cystitis: a rare cause of gross hematuria.

PubMed

Chang, Chirn-Bin; Chang, Chia-Chu

2011-05-01

Emphysematous cystitis is a relatively rare infectious condition of the urinary bladder. The mortality rate is high if the diagnosis is delayed or if the treatment is inadequate. We present an uncommon case of emphysematous cystitis and highlight the risk factors for this disease. An 81-year-old man with a past medical history of type 2 diabetes and a central pontine infarction presented to the Emergency Department due to gross hematuria. Computed tomography (CT) and plain radiography revealed localized gas within the bladder that was compatible with the diagnosis of emphysematous cystitis. A Foley catheter was inserted. Urine culture grew Klebsiella pneumoniae; 2 g cefotaxime daily was initiated. Subsequent plain radiography and CT scan showed regression of intraluminal gas. We recommend CT for the definitive diagnosis of emphysematous cystitis. Adequate antibiotic therapy, strict blood glucose control, adequate drainage of urine, and early goal-directed therapy for suspected sepsis are suggested to prevent the complications of emphysematous cystitis. Copyright © 2011 Elsevier Inc. All rights reserved.

Chorioamnionitis caused by Serratia marcescens in a healthy pregnant woman with preterm premature rupture of membranes: A rare case report and review of the literature.

PubMed

Erenberg, Miriam; Yagel, Yael; Press, Fernanda; Weintraub, Adi Y

2017-04-01

The incidence of chorioamnionitis varies widely. The highest incidence is reported in preterm deliveries. Among preterm deliveries, chorioamnionitis usually occurs after preterm premature rupture of membranes (PPROM). To date, only five cases of chorioamnionitis due to Serratia marcescens were reported. Here we present a case of a pregnant woman with chorioamnionitis due to Serratia marcescens who delivered a premature neonate at 28 weeks and four days of gestation. We also conducted a review of the literature in order to identify and characterize the clinical presentation and outcomes of this rare infection. A 36 year old female (gravida 9, para 6) was admitted with cervical effacement of 16mm and intact membranes at gestational age of 25 weeks and five days. One week following her admission PPROM was noticed. Treatment with the standard antibiotic regimen for PPROM was initiated. Thirteen days after the diagnosis of PPROM (28 weeks and four days) she developed chills, abdominal pain, sub febrile fever, tachycardia, leukocytosis and fetal tachycardia, and a clinical diagnosis of chorioamnionitis was made. An urgent CS was performed. In the first post-operative day the patient developed surgical sight infection. Cultures obtained from the purulent discharge of the wound, as well as cultures from the placenta and uterine cavity that were obtained during surgery grew Serratia marcescens. The patient was treated with Meropenem for six days, with a good clinical response. We present a rare case of nosocomialy acquired Serratia marcescens chorioamnionitis in a patient with PPROM. This case emphasizes the need for good infection control measures. Our favorable outcome together with the scares reports in the literature, add insight into this type of rare infection. Copyright © 2017 Elsevier B.V. All rights reserved.
The Present and Future Opportunities of the Rare Cancer Network: An International Consortium for Advancement of Oncologic Care

PubMed Central

2015-01-01

To date, the Rare Cancer Network (RCN) has initiated more than 90 studies and 54 peer-reviewed publications were produced as a result. The Second International Symposium of the Rare Cancer Network recently took place in Istanbul, Turkey on April 17-18, 2015, and update was given on multiple currently ongoing projects, while also giving room for new proposals which will shape the direction of future studies for the group. This companion issue of the RCN Proceedings summarized the findings of this meeting, while also serving as a call for fresh projects and papers which will continue to energize the group and advance the oncologic science. A brief introduction to the principles, history, and vision of the RCN was also included. To review, the academic year of 2014-15 marked an enormous success for the international members of the RCN, with the generation of 8 fully published papers and more than 12 newly proposed topics. By the collective efforts of all RCN members, in the future, we look forward to the upcoming opportunities in continuing to advance the standard of chemo- and radiotherapeutic oncologic care for selected rare tumor topics. The studies of these rare cancers often do not allow the design and execution of prospectively enrolled trials; however, these uncommon malignancies do impact the humankind and add to its suffering globally in significant ways. PMID:26500735
Pelvic dystopia of right rudimentary multicystic dysplastic kidney as a rare cause of bedwetting in a patient with a single pelvic ectopic left kidney, and agenesis of the uterus and vagina (Mayer-Rokitansky-Küster-Hauser syndrome): a case report.

PubMed

Karimbayev, Kidirali; Dzumanazarov, Nazarbek; Akhaibekov, Mukhtar; Berdikulov, Nurzhan; Karimbayev, Abay; Mustafayev, Assanaly

2018-05-07

Pelvic dystopia of rudimentary multicystic dysplastic kidney as a rare cause of bedwetting in children. We report the case of a 14-year-old Kazakh girl who presented with difficulty in starting the stream of urine and intermittent interruption of the urinary stream while voiding as well as bedwetting, caused by a rare congenital disease (pelvic dystopia of rudimentary multicystic dysplastic kidney). The diagnostic workup, differential diagnosis, and management, and a review of the literature are presented. Persistent since she was 2 years old, bedwetting was stressful for both the parents and child. Initially detected radiologically and endoscopically, a bladder mass was thought suspicious for ureterocele, papilloma, or mixed tumor of the urinary bladder, but surprisingly, turned out to be a pelvic dystopia of the rudimentary multicystic dysplastic kidney. Transvesical excision of this mass was performed. The purpose of this case report is to draw attention to the fact that a persistent case of bedwetting which does not respond to conventional therapy should be subject to further examinations to exclude surgical causes of the disease.
Unusual case of cavitary lung metastasis from squamous cell carcinoma of the uterine cervix

PubMed Central

Raissouni, Soundouss; Ghizlane, Rais; Mouzount, Houda; Saoussane, Kharmoum; Khadija, Setti; Zouaidia, Fouad; Latib, Rachida; Mrabti, Hind; Errihani, Hassan

2013-01-01

Spontaneous excavation of primary lung cancer is common; however cavitation of metastatic lung lesions is rare and usually confused with benign lesions. In Moroccan context tuberculosis is the first suspected diagnosis of lung excavations. We report a rare case of cavitary lung metastasis of a uterine cervix cancer, treated initially as tuberculosis. A 40-year old non-smoking woman with a known history of squamous cell carcinoma of the uterine cervix since August 2005; presented on September 2008 with right chest pain without fever, hemoptysis or weight loss. CT scan showed a thin walled cavity. Empirical Antibiotic therapy was conducted 15 days with poor outcome. Then antibacillary treatment was started with no proof of mycobacterial infection. A month later, the patient presented with gynecological bleeding and a pneumothorax. Bronchoscopy with transbronchial biopsy of the cavitary mass was performed. Pathology demonstrated a metastatic squamous cell carcinoma. Pelvic examination and MRI showed a subsequent local cervix recurrence. Patient underwent 3 courses of systemic chemotherapy. She died on June 2009 due to progressive disease. Even cavitary lung metastases are rare and benign differential diagnosis are more common, clinician should be careful in neoplastic context and investigation should be done to eliminate a recurrence. PMID:23560120
Red Dot Basal Cell Carcinoma: An Unusual Variant of a Common Malignancy.

PubMed

Loh, Tiffany Y; Cohen, Philip R

2016-05-01

Red dot basal cell carcinoma is a distinct but rare subtype of basal cell carcinoma (BCC). It presents as a red macule or papule; therefore, in most cases, it may easily be mistaken for a benign vascular lesion, such as a telangiectasia or angioma.
A red dot BCC in an older woman is described. Clinical and histological differences between red dot BCCs and telangiectasias are described.
A 72-year-old woman initially presented with a painless red macule on her nose. Biopsy of the lesion established the diagnosis of a red dot BCC. Pubmed was searched for the following terms: angioma, basal cell carcinoma, dermoscope, diascopy, red dot, non-melanoma skin cancer, telangiectasia, and vascular. The papers were reviewed for cases of red dot basal cell carcinoma. Clinical and histological characteristics of red dot basal cell carcinoma and telangiectasias were compared.
Red dot BCC is an extremely rare variant of BCC that may be confused with benign vascular lesions. Although BCCs rarely metastasize and are associated with low mortality, they have the potential to become locally invasive and destructive if left untreated. Thus, a high index of suspicion for red dot BCC is necessary.

J Drugs Dermatol. 2016;15(5):645-647.
Malignant mixed Mullerian tumour of the prolapsed cervix: A case report.

PubMed

Massinde, Anthony N; Rumanyika, Richard R; Kihunrwa, Albert; Rambau, Peter; Magoma, Moke

2012-04-01

Malignant mixed Mullerian tumour is a rare gynaecological tumour commonly presenting with vaginal bleeding, abdominal pain or mass in the uterine cavity, cervix or vagina. The neoplasms are commonly seen in postmenopausal women although it has been observed in younger women. Ovaries and the corpus of the uterus are commonly involved, whereas involvement of the cervix and vagina is rare. A 37 year-old Tanzania lady para 7 with a previous history of two genital polypectomies presented with history of recurrent vaginal mass which was associated with abnormal vaginal bleeding and foul smelling discharge. Vaginal examination revealed a prolapsed uterus with giant fungating cervical mass which was ulcerated, friable, and bled easily on touch. Impression was grade three uterine prolapse with infected cervical polyp/cervical sarcoma. Excision of the tumour through trans-vaginal hysterectomy was performed, no lymphadenopathy was found, no adnexa abnormalities, and no involvement of the vaginal wall. Histological diagnosis of Malignant mixed Mullerian tumour of the cervix was made. Patient recovery was unremarkable; however she was lost to follow up. The patient's mass was initially suspected to be prolapsed uterus with decubitus ulcer but the histological results were of a malignant condition. Lack of clear management guidelines for some rare mixed tumours remains a challenge for clinicians in low resource settings.
Management of an acute catecholamine-induced cardiomyopathy and circulatory collapse: a multidisciplinary approach

PubMed Central

Challis, B G; Pitfield, D; Mahroof, R M; Jamieson, N; Bhagra, C J; Vuylsteke, A; Pettit, S J; Chatterjee, K C

2017-01-01

A phaeochromocytoma (PC) is a rare, catecholamine-secreting neuroendocrine tumour arising from the adrenal medulla. Presenting symptoms of this rare tumour are highly variable but life-threatening multiorgan dysfunction can occur secondary to catecholamine-induced hypertension or hypotension and subsequent cardiovascular collapse. High levels of circulating catecholamines can induce an acute stress cardiomyopathy, also known as Takotsubo cardiomyopathy. Recent studies have focused on early diagnosis and estimation of the prevalence of acute stress cardiomyopathy in patients with PC, but very little is reported about management of these complex cases. Here, we report the case of a 38-year-old lady who presented with an acute Takotsubo or stress cardiomyopathy and catecholamine crisis, caused by an occult left-sided 5 cm PC. The initial presenting crisis manifested with symptoms of severe headache and abdominal pain, triggered by a respiratory tract infection. On admission to hospital, the patient rapidly deteriorated, developing respiratory failure, cardiogenic shock and subsequent cardiovascular collapse due to further exacerbation of the catecholamine crisis caused by a combination of opiates and intravenous corticosteroid. An echocardiogram revealed left ventricular apical hypokinesia and ballooning, with an estimated left ventricular ejection fraction of 10–15%. Herein, we outline the early stabilisation period, preoperative optimisation and intraoperative management, providing anecdotal guidance for the management of this rare life-threatening complication of PC. Learning points: A diagnosis of phaeochromocytoma should be considered in patients presenting with acute cardiomyopathy or cardiogenic shock without a clear ischaemic or valvular aetiology. Catecholamine crisis is a life-threatening medical emergency that requires cross-disciplinary expertise and management to ensure the best clinical outcome. After initial resuscitation, treatment of acute catecholamine-induced stress cardiomyopathy requires careful introduction of alpha-blockade followed by beta-blockade if necessary to manage β-receptor-mediated tachycardia. Prolonged α-adrenergic receptor stimulation by high levels of circulating catecholamines precipitates arterial vasoconstriction and intravascular volume contraction, which can further exacerbate hypotension. Invasive pressure monitoring can aid management of intravascular volume in these complex patients. PMID:29147570
Clostridial Gas Gangrene of the Abdominal Wall After Laparoscopic Cholecystectomy: A Case Report and Review.

PubMed

Harmsen, Annelieke M K; van Tol, Erik; Giannakopoulos, Georgios F; de Brauw, L Maurits

2016-08-01

Clostridial gas gangrene is a rare, yet severe, complication after laparoscopic cholecystectomy. We present a case report of a 48-year-old man with obesity, coronary artery disease, and diabetes, who developed clostridial gas gangrene of the abdominal wall after an uncomplicated laparoscopic cholecystectomy. Although the diagnosis was missed initially, successful radical surgical debridement was performed and the patient survived. Pathogenesis, symptoms, prognostic factors, and the best treatment are discussed.
Lymphogranuloma venereum of the rectum in a homosexual man. Case report.

PubMed Central

Mindel, A

1983-01-01

A male homosexual presented initially with bloody diarrhoea and a swelling in the left groin, which was unsuccessfully treated with erythromycin. Examination in hospital showed a rectal mass and an abscess in the left groin. Histological examination of the rectal mass and a positive lymphogranuloma complement fixation test result confirmed the diagnosis of lymphogranuloma venereum. This disease, although rare, should not be forgotten in the differential diagnosis of rectal problems in male homosexuals. PMID:6850267
Cholelithiasis in a toddler with sickle cell disease.

PubMed

Schinasi, Dana Aronson; Mistry, Rakesh D; Mistry, Rakesh

2011-06-01

Cholelithiasis is rarely seen in toddlers and school-aged children, even in the setting of sickle cell anemia. In addition to more common etiologies, such as gastroenteritis, constipation, and urinary tract infection, the differential diagnoses of acute abdominal pain in young children with sickle cell disease include vaso-occlusive pain crisis and splenic sequestration. We describe a case of a toddler with sickle cell disease initially presenting with abdominal pain who was found to have symptomatic cholelithiasis.
Tongue metastasis mimicking an abscess.

PubMed

Mavili, Ertuğrul; Oztürk, Mustafa; Yücel, Tuba; Yüce, Imdat; Cağli, Sedat

2010-03-01

Primary tumors metastasizing to the oral cavity are extremely rare. Lung is one of the most common primary sources of metastases to the tongue. Although the incidence of lung cancer is increasing, tongue metastasis as the initial presentation of the tumor remains uncommon. Due to the rarity of tongue metastasis, little is known about its imaging findings. Herein we report the magnetic resonance imaging and clinical findings of a lingual metastasis, mimicking an abscess, from a primary lung cancer.
"Here Today, Gone Next Week": Some Lessons for the Delivery of Itinerant Primary Schooling of a Distance Education Program Designed for the Children of the Showmen's Guild of Australasia.

ERIC Educational Resources Information Center

Wyer, Doug; And Others

This paper presents initial results of research on a distance education program developed in 1989 for the children of the Showmen's Guild of Australasia. The program accommodates the mobility of children and their parents who are rarely in any town for more than a week during the show circuit. The children complete correspondence lessons in…
A favorable outcome following 32 vesicocentesis and amnioinfusion procedures in a fetus with severe prune belly syndrome.

PubMed

Galati, Vincenzo; Beeson, James H; Confer, Stephen D; Frimberger, Dominic; Campbell, Jeffrey B; Ramji, Faridali G; Kropp, Bradley P

2008-04-01

Patients with severe prune belly syndrome rarely survive beyond the first days of life. We present a case of prune belly syndrome that initially presented with severe oligohydramnios, megacystis and associated poor urine biochemistries. Due to an anteriorly located placenta the patient was referred to three major centers, but was turned down because of the unfavorable prognostic findings. Therefore, fetal intervention was performed with 32 vesicocentesis and amnioinfusion procedures. Despite the unfavorable prenatal findings, and having undergone numerous fetal interventions, the birth resulted in a viable infant.
Atypical presentation of systemic lupus erythematosus: parotitis and secondary Sjogren's syndrome. Case report.

PubMed

Criscov, Geanina Irina; Rugină, Aurica; Stana, A B; Azoicăi, Alice Nicoleta; Moraru, Eovelina

2014-01-01

Systemic lupus erythematosus (SLE) is an autoimmune disease characterized by auto antibodies directed against self-antigens, immune complex formation and immune deregulations and may affect joints, skin, kidneys, heart, lungs, nervous system, and immune system. The onset can be variable and the symptoms can occur for many years. Parotitis as the initial manifestation of systemic lupus erythematosus (SLE) is a rare condition and can be associated with Sjogren's syndrome. In this article we present the case of a young patient who was diagnosed with Sjogren's syndrome retrospectively, after she met the criteria for SLE.
[Nocardiosis in immunocompromised host presenting as cellulitis].

PubMed

Asgeirsson, Hilmar; Sigurdardottir, Bryndis

2010-06-01

Nocardia is a rare pathogen of mainly immunocomprised patients. Only two cases of nocardiosis have previously been identified in Iceland. A 92-year-old male on glucocorticoid therapy with metastatic bladder cancer presented with two weeks history of progressive swelling and erythema of the hand and deteriorating cognitive functioning. A brain lesion and pulmonary nodules were identified and Nocardia farcinia was cultured from a hand abscess. The patient was initially treated with trimethoprim/sulfamethoxazole but because of rapid deterioration and old age an end-of-life decision was made. This case of nocardiosis illustrates the importance of uncommon opportunistic infections in immunocompromised Icelandic patients.
[Xanthogranulomatous pyelonephritis in a child with severe malnutrition and recurrent fever].

PubMed

Gramage Tormo, J; Gavilán Martín, C; Atienza Almarcha, T

2015-01-01

Xanthogranulomatous pyelonephritis is a rare inflammatory disease, characterized by replacement of renal parenchyma with granulomatous tissue. Initial clinical presentation includes abdominal pain and constitutional symptoms related to recurrent urinary infections. The microorganisms most commonly involved are Escherichia coli and Proteus mirabilis. Final diagnosis is made by histopathology, and the only curative treatment is total or partial nephrectomy. A recently diagnosed case in our unit is presented, as well as an update on the knowledge of this disease. Copyright © 2014 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.
Solitary fibular metastasis from nonsmall cell lung carcinoma

PubMed Central

Akram, Mohammad; Zaheer, Samreen; Hussain, Asif; Siddiqui, Shahid A; Afrose, Ruquiya; Khalid, Saifullah

2017-01-01

Solitary bone metastasis to fibula in patients of lung carcinoma is a rare entity, with only four cases reported in literature. We, hereby, present a case of a 50 year-old-male who was given three cycles of chemotherapy for lung carcinoma with no distant metastasis but presented 2 months later with a fusiform, painful swelling around the knee that was clinically suspected to be inflammatory in nature but proved to be fibular metastasis on cytology. There was no evidence of skeletal metastasis on initial bone scan. He was given palliative radiotherapy for this with symptomatic relief. PMID:28469322
Solitary fibular metastasis from nonsmall cell lung carcinoma.

PubMed

Akram, Mohammad; Zaheer, Samreen; Hussain, Asif; Siddiqui, Shahid A; Afrose, Ruquiya; Khalid, Saifullah

2017-01-01

Solitary bone metastasis to fibula in patients of lung carcinoma is a rare entity, with only four cases reported in literature. We, hereby, present a case of a 50 year-old-male who was given three cycles of chemotherapy for lung carcinoma with no distant metastasis but presented 2 months later with a fusiform, painful swelling around the knee that was clinically suspected to be inflammatory in nature but proved to be fibular metastasis on cytology. There was no evidence of skeletal metastasis on initial bone scan. He was given palliative radiotherapy for this with symptomatic relief.
Maxillary Teeth Abscesses Result in Atypical Liver Abscesses

PubMed Central

Gupta, Vritti; Vivekanandan, Renuga; Gorby, Gary

2018-01-01

Hepatic liver abscesses are often misdiagnosed on initial presentation because pyogenic liver lesions are a rare occurrence in the United States. This leads to a delay in proper treatment and results in increasing morbidity and mortality. Our case report demonstrates the atypical presentation of a hepatic liver abscess in the elderly. The source of infection was found to be periapical abscesses of the teeth, which subsequently seeded the portal blood stream of our patient. Our findings validate the potential hazard of Viridans streptococci and illustrate how untreated dental infections can serve as a reservoir for a systemic infection. PMID:29796365
Fibromuscular Dysplasia Presenting with Bilateral Renal Infarction

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

Doody, O., E-mail: orla_doody@hotmail.co; Adam, W. R.; Foley, P. T.

2009-03-15

Fibromuscular dysplasia (FMD) describes a group of conditions which cause nonatheromatous arterial stenoses, most commonly of the renal and carotid arteries, typically in young women. We report a rare case of bilateral segmental renal infarction secondary to FMD in a young male patient. His initial presentation with loin pain and pyrexia resulted in a delay in the definitive diagnosis of FMD. He was successfully treated with bilateral balloon angioplasty. The delayed diagnosis in this patient until the condition had progressed to bilateral renal infarcts highlights the need for prompt investigation and diagnosis of suspected cases of FMD.

Omental fibromatosis treated by laparoscopic wide surgical resection.

PubMed

Martin, David; Muradbegovic, Mirza; Andrejevic-Blant, Snezana; Petermann, David; Di Mare, Luca

2018-02-01

The current report presents a case of an omental fibromatosis discovered incidentally in a 46-year-old woman with no particular medical history and few symptoms. A surgical biopsy was performed initially, and microscopic examination revealed myofibroblastic proliferation. After additional immunohistochemical and molecular analyses, omental fibromatosis was diagnosed. Omental fibromatosis, also called intra-abdominal desmoid, is a rare and benign tumour but can be locally aggressive. Majority of cases are asymptomatic, and difficult to diagnose based on clinical presentation and radiological investigation. Final diagnosis is usually made on histopathology and immunohistochemistry studies. Surgical wide excision is currently the treatment of choice.
Progressive Ischemic Stroke due to Thyroid Storm-Associated Cerebral Venous Thrombosis

PubMed Central

Tanabe, Natsumi; Hiraoka, Eiji; Hoshino, Masataka; Deshpande, Gautam A.; Sawada, Kana; Norisue, Yasuhiro; Tsukuda, Jumpei; Suzuki, Toshihiko

2017-01-01

Patient: Female, 49 Final Diagnosis: Cerebral venous thrombosis Symptoms: Altered mental state • weakness in limbs Medication: — Clinical Procedure: — Specialty: Endocrinology and Metabolic Objective: Rare co-existance of disease or pathology Background: Cerebral venous thrombosis (CVT) is a rare but fatal complication of hyperthyroidism that is induced by the hypercoagulable state of thyrotoxicosis. Although it is frequently difficult to diagnose CVT promptly, it is important to consider it in the differential diagnosis when a hyperthyroid patient presents with atypical neurologic symptoms. Care Report: A 49-year-old Japanese female with unremarkable medical history came in with thyroid storm and multiple progressive ischemic stroke identified at another hospital. Treatment for thyroid storm with beta-blocker, glucocorticoid, and potassium iodide-iodine was started and MR venography was performed on hospital day 3 for further evaluation of her progressive ischemic stroke. The MRI showed CVT, and anticoagulation therapy, in addition to the anti-thyroid agents, was initiated. The patient’s thyroid function was successfully stabilized by hospital day 10 and further progression of CVT was prevented. Conclusions: Physicians should consider CVT when a patient presents with atypical course of stroke or with atypical MRI findings such as high intensity area in apparent diffusion coefficient (ADC) mapping. Not only is an early diagnosis and initiation of anticoagulation important, but identifying and treating the underlying disease is essential to avoid the progression of CVT. PMID:28228636
Thyrotoxicosis presenting as hypogonadism: a case of central hyperthyroidism.

PubMed

Childress, R Dale; Qureshi, M Nauman; Kasparova, Meri; Oktaei, Hooman; Williams-Cleaves, Beverly; Solomon, Solomon S

2004-11-01

Herein, we present a case of central thyrotoxicosis with well-documented serial therapeutic interventions. Thyroid-stimulating hormone (TSH)-secreting pituitary tumors represent a rare cause of hyperthyroidism. It is being diagnosed more frequently with the third-generation TSH assay. Many conditions can produce normal or elevated TSH levels in combination with elevated thyroid hormone levels. The differential diagnosis includes resistance to thyroid hormone (RTH, Refetoff's syndrome), assay interference from anti-T4/T3 and heterophile antibodies, elevated or altered binding proteins, drugs affecting peripheral metabolism, and noncompliance with thyroid replacement therapy. In contrast to RTH, our patient presented had high alpha-subunit-to-TSH molar ratio, failed TSH response to thyrotropin-releasing hormone stimulation, and a large pituitary mass. Normal or high TSH in the presence of elevated T4 or T3 is a fairly common clinical scenario with many etiologic possibilities. This TSH-producing adenoma represents an unusual initial clinical presentation, as hypogonadism appeared before features of thyrotoxicosis were appreciated. This case represents the most modern therapeutic approach to the management of this rare disease. Our patient has done well on octreotide with control of thyrotoxicosis and an additional 30% shrinkage of his tumor mass.
Acute Esophageal Necrosis in an Alcoholic after Successful Resuscitation from Cardiac Arrest

PubMed Central

Thoguluva Chandreskar, Viveksandeep; Kahlon, Arundeep; Amzuta, Ioana

2017-01-01

Introduction We present a patient who presented to the ICU after successful resuscitation from cardiac arrest who was subsequently diagnosed with AEN. Case Presentation A 66-year-old female presented after cardiac arrest in which return of spontaneous circulation was achieved within 7 minutes after the initiation of CPR. She was intubated on the scene and found to have coffee ground emesis in her bathroom when found unresponsive. Due to the hemodynamically significant GI bleed, patient was started on IV proton pump inhibitor, octreotide, and levophed. Subsequent endoscopy showed diffuse severe mucosal changes characterized by blackness, erythema, friability, granularity, inflammation, and decreased vascular pattern in the middle third of the esophagus and in the lower third of the esophagus. Discussion AEN is a rare syndrome with a prevalence ranging from 0.001 to 0.2% of EGD. This patient is especially rare as this patient was female and had AEN in the middle esophagus along with lower esophagus. The pathophysiology in this patient is hypothesized that she had cardiac arrest secondary to acute upper GI hemorrhage. Subsequent low-flow state (cardiac arrest) in addition to being in the setting of severe alcohol abuse led to esophageal necrosis. PMID:28706745
"A" motor neuron disease.

PubMed

Vishnu, Venugopalan Y; Modi, Manish; Prabhakar, Sudesh; Bhansali, Anil; Goyal, Manoj Kumar

2014-01-15

Allgrove syndrome is a rare autosomal recessive disorder characterised by achalasia, alacrima, adrenal insufficiency, autonomic dysfunction and amyotrophy. The syndrome has been described in childhood and adult presentation, as in our case, is very rare. There is a considerable delay in diagnosis due to lack of awareness about the syndrome. We report a single case of a 36 year old man who was initially diagnosed and treated for achalasia cardia in our institute 14 years before. After 8 years he presented again with weakness and wasting predominantly distally. He had tongue fasciculations, brisk reflexes and extensor plantar. After supportive electrophysiological studies he was diagnosed as Amyotrophic lateral sclerosis. After 5 years he presented with generalised fatigue without any significant worsening of his neurological status. On reevaluation he had alacrimia, autonomic dysfunction and mild ACTH resistance. Allgrove syndrome may be an underdiagnosed cause of multisystem neurological disease due to the heterogeneous clinical presentation as well as for ignorance of clinician about the syndrome. Based on our case, we also believe that there does exist a subgroup of patients who follow a less severe and chronic course. Recognition of syndrome allows for treatment of autonomic dysfunction, adrenal insufficiency and dysphagia. © 2013.
Fungal osteomyelitis with vertebral re-ossification

PubMed Central

O′Guinn, Devon J.; Serletis, Demitre; Kazemi, Noojan

2015-01-01

Introduction We present a rare case of thoracic vertebral osteomyelitis secondary to pulmonary Blastomyces dermatitides. Presentation of case A 27-year-old male presented with three months of chest pains and non-productive cough. Examination revealed diminished breath sounds on the right. CT/MR imaging confirmed a right-sided pre-/paravertebral soft tissue mass and destructive lytic lesions from T2 to T6. CT-guided needle biopsy confirmed granulomatous pulmonary Blastomycosis. Conservative management with antifungal therapy was initiated. Neurosurgical review confirmed no clinical or profound radiographic instability, and the patient was stabilized with TLSO bracing. Serial imaging 3 months later revealed near-resolution of the thoracic soft tissue mass, with vertebral re-ossification from T2 to T6. Discussion Fungal osteomyelitis presents a rare entity in the spectrum of spinal infections. In such cases, lytic spinal lesions are classically seen in association with a large paraspinous mass. Fungal infections of the spinal column may be treated conservatively, with surgical intervention reserved for progressive cases manifesting with neurological compromise and/or spinal column instability. Here, we found unexpected evidence for vertebral re-ossification across the affected thoracic levels (T2-6) in response to IV antibiotic therapy and conservative bracing, nearly 3 months later. PMID:26692163
[Spontaneous splenic rupture as complication of infective mononucleosis: a clinical case].

PubMed

Delle Monache, Guido; Orlando, Dante; Frassanito, Salvatore; Sciarra, Roberto; Rinaldi, Manlio Tullio

2003-01-01

Spontaneous splenic rupture is a very rare complication of infectious mononucleosis, already described by other authors. In this case report we show the findings occurring in a young man who presented with sudden left thoracic pain and dyspnea. The initial work-up was oriented towards a suspected diagnosis of left spontaneous pneumothorax. Initially, little attention was paid to the clinical history that was characterized by flu-like symptoms during the previous 2 weeks; this, along with a rushed physical examination, could have had dramatic consequences, due to the unavoidable diagnostic delay. A thorough clinical evaluation by Internists, coupled with the essential ultrasonographic diagnostic support, allowed an earlier diagnosis followed by definitive cure, i.e. splenectomy.
Celiac Disease Presenting as Profound Diarrhea and Weight Loss - A Celiac Crisis.

PubMed

Bul, Vadim; Sleesman, Brett; Boulay, Brian

2016-08-05

BACKGROUND Celiac disease is a hypersensitivity enteropathy that can have various presentations in adults. Rarely, patients can present with severe lab abnormalities, dehydration and weight loss caused by celiac disease - a celiac crisis. CASE REPORT A 46-year-old male with a past medical history significant for diabetes mellitus, type 2 (DM2) and recently treated Bell's Palsy presented to the emergency room complaining of weakness, diarrhea and lightheadedness. On presentation, the patient had a systolic blood pressure (SBP) of 60 mm Hg and a lactic acidosis with pH of 7.28. Infectious etiologies of diarrhea were ruled out. The patient had an EGD which showed erythema of the duodenal bulb. Serum anti-gliadin and anti-TTG IgA were both elevated suggesting Celiac disease. Biopsies showed histopathology consistent with celiac disease. The patient's diarrhea resolved after initiation of a gluten free diet. He gained 25 kilograms after discharge and did not require further hospitalizations for diarrhea. CONCLUSIONS Celiac crisis is a very rare presentation of celiac disease in adults but nonetheless should be considered in patients with marked metabolic derangements in the setting of osmotic diarrhea. Treatment consists of a gluten free diet and may require management with steroids and total parenteral nutrition (TPN).
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
Craniopharyngioma presenting with severe hyponatremia, hyponatremia-induced myopathy, and panhypopituitarism: a case report.

PubMed

Dilrukshi, M D S A; Sandakumari, G V N; Abeysundara, P K; Chang, T

2017-02-05

Craniopharyngiomas are rare intracranial tumors commonly presenting with neurological symptoms. Reports of severe hyponatremia as a presenting manifestation of a craniopharyngioma and hyponatremia-induced myopathy are rare. We report the case of a patient with craniopharyngioma presenting with severe hyponatremia, panhypopituitarism, and hyponatremia-induced myopathy. A 52-year-old Sri Lankan man presented with anorexia, nausea, fatigue, generalized muscle weakness, and cramps for 1 week. The onset of his illness had been preceded by vomiting and diarrhea for 1 day which he attributed to food poisoning. On examination, he had an apathetic disposition with a generalized "sallow complexion." He was not dehydrated. Apart from reduced muscle power (4/5) and hyporeflexia, the neurological examination was normal. His serum sodium was 102 mmol/l; potassium 4.1 mmol/l; chloride 63 mmol/l; plasma osmolality 272 mosm/KgH 2 O; urine osmolality 642 mosm/KgH 2 O; and urine sodium 79 mmol/l. His creatine phosphokinase was 12,400 U/l, lactate dehydrogenase 628 U/l, aspartate aminotransferase 360 U/l, and alanine aminotransferase 64 U/l. His hormone profile revealed panhypopituitarism. An electromyogram showed nonspecific abnormalities while a muscle biopsy did not show any pathology. Magnetic resonance imaging of his brain demonstrated a well-defined craniopharyngioma with suprasellar extension. His pituitary gland was compressed and the pituitary stalk was displaced by the tumor. He had marked improvement in muscle power and rapid reduction of serum creatine phosphokinase levels paralleling the correction of severe hyponatremia, even before the initiation of hormone replacement. This case illustrates the rare presentation of severe hyponatremia and hyponatremia-induced myopathy in patients with craniopharyngioma, awareness of which would facilitate early appropriate investigations and treatment.
Takotsubo cardiomyopathy associated with thyrotoxicosis: a case report and review of the literature.

PubMed

Eliades, Myrto; El-Maouche, Diala; Choudhary, Chitra; Zinsmeister, Bruce; Burman, Kenneth D

2014-02-01

Takotsubo or stress-induced cardiomyopathy is a form of reversible cardiomyopathy commonly associated with emotional or physical stress. Thyrotoxicosis has been identified as a rare cause of Takotsubo cardiomyopathy, with only 12 cases reported in the literature. Here, we report a case of thyroid storm presenting with Takotsubo cardiomyopathy in the setting of Graves' disease. A 71-year-old woman presented with abdominal pain, vomiting, confusion, and history of weight loss. She was initially diagnosed and treated for diabetic ketoacidosis at another hospital and was transferred to our hospital one day after initial presentation because of concern for acute coronary syndrome. A diagnosis of Takotsubo cardiomyopathy was made on the basis of cardiac catheterization. At that time, she was diagnosed and treated for thyroid storm. Follow-up 7 weeks later revealed improvement of her cardiac function and near-normalization of thyroid hormone levels. In this patient, who presented with symptoms of heart failure, acute coronary syndrome was initially considered, but the diagnosis of Takotsubo cardiomyopathy associated with thyroid storm was ultimately made based on cardiac catheterization and laboratory investigation. Thyrotoxicosis is associated with adverse disturbances in the cardiovascular system. Takotsubo cardiomyopathy could be a presenting manifestation of thyroid storm, perhaps related to excess catecholamine levels or sensitivity.
Takotsubo Cardiomyopathy Associated with Thyrotoxicosis: A Case Report and Review of the Literature

PubMed Central

El-Maouche, Diala; Choudhary, Chitra; Zinsmeister, Bruce; Burman, Kenneth D.

2014-01-01

Background: Takotsubo or stress-induced cardiomyopathy is a form of reversible cardiomyopathy commonly associated with emotional or physical stress. Thyrotoxicosis has been identified as a rare cause of Takotsubo cardiomyopathy, with only 12 cases reported in the literature. Here, we report a case of thyroid storm presenting with Takotsubo cardiomyopathy in the setting of Graves' disease. Patient Findings: A 71-year-old woman presented with abdominal pain, vomiting, confusion, and history of weight loss. She was initially diagnosed and treated for diabetic ketoacidosis at another hospital and was transferred to our hospital one day after initial presentation because of concern for acute coronary syndrome. A diagnosis of Takotsubo cardiomyopathy was made on the basis of cardiac catheterization. At that time, she was diagnosed and treated for thyroid storm. Follow-up 7 weeks later revealed improvement of her cardiac function and near-normalization of thyroid hormone levels. Summary: In this patient, who presented with symptoms of heart failure, acute coronary syndrome was initially considered, but the diagnosis of Takotsubo cardiomyopathy associated with thyroid storm was ultimately made based on cardiac catheterization and laboratory investigation. Conclusions: Thyrotoxicosis is associated with adverse disturbances in the cardiovascular system. Takotsubo cardiomyopathy could be a presenting manifestation of thyroid storm, perhaps related to excess catecholamine levels or sensitivity. PMID:23560557
[Design of standard voice sample text for subjective auditory perceptual evaluation of voice disorders].

PubMed

Li, Jin-rang; Sun, Yan-yan; Xu, Wen

2010-09-01

To design a speech voice sample text with all phonemes in Mandarin for subjective auditory perceptual evaluation of voice disorders. The principles for design of a speech voice sample text are: The short text should include the 21 initials and 39 finals, this may cover all the phonemes in Mandarin. Also, the short text should have some meanings. A short text was made out. It had 155 Chinese words, and included 21 initials and 38 finals (the final, ê, was not included because it was rarely used in Mandarin). Also, the text covered 17 light tones and one "Erhua". The constituent ratios of the initials and finals presented in this short text were statistically similar as those in Mandarin according to the method of similarity of the sample and population (r = 0.742, P < 0.001 and r = 0.844, P < 0.001, respectively). The constituent ratios of the tones presented in this short text were statistically not similar as those in Mandarin (r = 0.731, P > 0.05). A speech voice sample text with all phonemes in Mandarin was made out. The constituent ratios of the initials and finals presented in this short text are similar as those in Mandarin. Its value for subjective auditory perceptual evaluation of voice disorders need further study.
PROTECTED POLYMORPHISMS AND EVOLUTIONARY STABILITY OF PATCH-SELECTION STRATEGIES IN STOCHASTIC ENVIRONMENTS

PubMed Central

EVANS, STEVEN N.; HENING, ALEXANDRU; SCHREIBER, SEBASTIAN J.

2015-01-01

We consider a population living in a patchy environment that varies stochastically in space and time. The population is composed of two morphs (that is, individuals of the same species with different genotypes). In terms of survival and reproductive success, the associated phenotypes differ only in their habitat selection strategies. We compute invasion rates corresponding to the rates at which the abundance of an initially rare morph increases in the presence of the other morph established at equilibrium. If both morphs have positive invasion rates when rare, then there is an equilibrium distribution such that the two morphs coexist; that is, there is a protected polymorphism for habitat selection. Alternatively, if one morph has a negative invasion rate when rare, then it is asymptotically displaced by the other morph under all initial conditions where both morphs are present. We refine the characterization of an evolutionary stable strategy for habitat selection from [Schreiber, 2012] in a mathematically rigorous manner. We provide a necessary and sufficient condition for the existence of an ESS that uses all patches and determine when using a single patch is an ESS. We also provide an explicit formula for the ESS when there are two habitat types. We show that adding environmental stochasticity results in an ESS that, when compared to the ESS for the corresponding model without stochasticity, spends less time in patches with larger carrying capacities and possibly makes use of sink patches, thereby practicing a spatial form of bet hedging. PMID:25151369
Bacterial community initial development in proglacial soils of Larsemann hill, East Antarctica

NASA Astrophysics Data System (ADS)

Ma, H.; Yan, W.; Shi, G.; Sun, B.; Zhang, Y.; Xiao, X.

2016-12-01

Glacial forefields are considered ideal places to explore how microbial communities will response to climate-driven environmental changes. Our knowledge of how the bacterial community activities and structure was influenced by changing environment due to glacier retreat is still very limited, especially at the initial stage of glacier retreat. The short gradient soil samples including the ice free and ice covered sites were sampled in the forehead of East Antarctica ice sheet, in Larsemann Hills. By employing the Miseq sequencing methods, 1.8 x104 high-quality sequences were gotten for each sample and the bacterial diversity including abundant bacteria and rare bacteria were studied and compared between the gradient samples. Even though in such an extreme stress condition, the bacterial diversity was high. The coefficient of variance between the five sites of abundant group was 0.886 which was higher than that of the top 20 rare group (0.159) significantly (unpaired t test, p-value<0.0001) suggesting that the abundant bacterial communities were more sensitive to the ice sheet change in the initial stage than rare bacteria did. And the abundant bacteria contributed the community structure more than the rare bacteria did. The rare group acted more like seed bank to keep the community functionality in the forehead of sheet. And the ice thickness was the major factor to affect the abundant bacterial community. Given the fact that Antarctica environment was more sensitive to the global warming, the study about abundant and rare bacteria response to condition change will be helpful to precisely predict community response to climate change in polar region. This finding will improve the understanding about the relationship between community structure and environment condition in extreme stress condition.
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.
Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel.

PubMed

Huang, Jie; Howie, Bryan; McCarthy, Shane; Memari, Yasin; Walter, Klaudia; Min, Josine L; Danecek, Petr; Malerba, Giovanni; Trabetti, Elisabetta; Zheng, Hou-Feng; Gambaro, Giovanni; Richards, J Brent; Durbin, Richard; Timpson, Nicholas J; Marchini, Jonathan; Soranzo, Nicole

2015-09-14

Imputing genotypes from reference panels created by whole-genome sequencing (WGS) provides a cost-effective strategy for augmenting the single-nucleotide polymorphism (SNP) content of genome-wide arrays. The UK10K Cohorts project has generated a data set of 3,781 whole genomes sequenced at low depth (average 7x), aiming to exhaustively characterize genetic variation down to 0.1% minor allele frequency in the British population. Here we demonstrate the value of this resource for improving imputation accuracy at rare and low-frequency variants in both a UK and an Italian population. We show that large increases in imputation accuracy can be achieved by re-phasing WGS reference panels after initial genotype calling. We also present a method for combining WGS panels to improve variant coverage and downstream imputation accuracy, which we illustrate by integrating 7,562 WGS haplotypes from the UK10K project with 2,184 haplotypes from the 1000 Genomes Project. Finally, we introduce a novel approximation that maintains speed without sacrificing imputation accuracy for rare variants.
Processing of spent Ni-MH batteries for the recovery of cobalt, nickel and rare earth elements bearing materials by means of a chemical and electrochemical sequential process

NASA Astrophysics Data System (ADS)

Delvasto, P.; Orta Rodríguez, R.; Blanco, S.

2016-02-01

Rechargeable Ni-MH batteries contain strategic metal values which are worth to be recovered. In the present work, a preliminary sequential chemical and electrochemical procedure is proposed, in order to reclaim materials bearing Ni, Co and rare earth elements (REE) from Ni-MH spent batteries. Initially, spent batteries are disassembled to separate the electrode materials (anode and cathode), which are then leached with an aqueous solution of 5w% sulphuric acid. The metal content of this solution is checked by atomic absorption spectrometry techniques. The obtained solution is pH-adjusted (with NaOH), until pH is between 4.0 and 4.3; then, it is heated up to 70°C to precipitate a rare earth elements sulphate (Nd, La, Pr, Ce), as determined by means of x-ray fluorescence techniques. The solids-free solution is then electrolyzed, in order to recover a Ni-Co alloy. The electrolysis conditions were established through a cyclic voltammetry technique.
Embryonal tumor with abundant neuropil and true rosettes: an autopsy case-based update and review of the literature.

PubMed

Adamek, Dariusz; Sofowora, Kolawole D; Cwiklinska, Magdalena; Herman-Sucharska, Izabela; Kwiatkowski, Stanislaw

2013-05-01

Embryonal tumor with abundant neuropil and true rosettes (ETANTR) is a rare subtype of primitive neuroectodermal tumors first reported in 2000. It is rare among the group of embryonal central nervous system tumors with approximately 50 reported cases. ETANTR has been suggested to be a separate entity among this group of tumors. Herein, we present only the second autopsy case of ETANTR, which occurred in a 17-month-old boy, and was located in the brainstem. The tumor was inoperable, and despite chemotherapy, the child died 3 months after initial hospitalization. A brain only autopsy was performed. Neuropathological and neuroimaging examinations suggest ETANTR grew by expansion rather than invasion distorting anatomical structures of the posterior fossa. We suggest that the characteristic histopathological picture of the tumor is the result of multifocal and dispersed germinative activity surrounded by mature neuropil-like areas. ETANTR is a pediatric tumor occurring in children under 4 with a significantly poor prognosis with more cases and research required to characterize this rare embryonal tumor.
Erdheim-Chester disease: an uncommon cause of upper urinary tract obstruction.

PubMed

Tsu, J H L; Yuen, S K; Cheung, H; Lee, Y W; Liu, P L

2013-10-01

Erdheim-Chester disease is a rare non-Langerhans form of systemic histiocytosis of unknown origin. We describe a 45-year-old man presenting with bilateral hydronephrosis suggestive of extrinsic urinary tract obstruction. Computed tomography revealed extensive hypodense soft tissue infiltration in the retroperitoneum surrounding the kidneys. Needle biopsy of the retroperitoneal soft tissue revealed aggregates of lipid-laden histiocytes expressing CD68 but negative for CD1a and S100 protein. The diagnosis of Erdheim-Chester disease was supported by typical radionuclide bone scinitigraphic findings. Treatment with prednisolone, sirolimus, and regular ureteric stent revision was initiated to achieve adequate urinary tract drainage. To our knowledge, this is the second patient with Erdheim-Chester disease reported in Hong Kong. A high index of suspicion is required to avoid delay in the diagnosis of this rare disease.

PubMed Central

BARBIERI, M.; MUSIZZANO, Y.; BOGGIO, M.; CARCUSCIA, C.

2011-01-01

SUMMARY Granular cell tumour is a rare soft tissue neoplasm that can virtually affect any site of the body. Its histological origin is controversial, since several studies have shown that different cells are involved. Granular cell tumour was initially described as myoblastoma, but, at present, a neural origin is supported by most Authors, due to the immunohistochemical pattern. Even if the biological behaviour of granular cell tumours is usually benign, accurate histological examination is mandatory, because in a small number of cases they can be malignant. Here, a case is described of granular cell tumour in a 14-year-old boy, which is a very rare occurrence, since these tumours typically manifest in subjects between the third and sixth decade. Histopathological features, differential diagnosis and therapeutic implications of granular cell tumour are discussed, together with a brief review of the recent literature. PMID:22058595
Bilateral Bell palsy as a presenting sign of preeclampsia.

PubMed

Vogell, Alison; Boelig, Rupsa C; Skora, Joanna; Baxter, Jason K

2014-08-01

Bell palsy is a facial nerve neuropathy that is a rare disorder but occurs at higher frequency in pregnancy. Almost 30% of cases are associated with preeclampsia or gestational hypertension. Bilateral Bell palsy occurs in only 0.3%-2.0% of cases of facial paralysis, has a poorer prognosis for recovery, and may be associated with a systemic disorder. We describe a case of a 24-year-old primigravid woman with a twin gestation at 35 weeks diagnosed initially with bilateral facial palsy and subsequently with preeclampsia. She then developed partial hemolysis, elevated liver enzymes, and low platelet count syndrome, prompting the diagnosis of severe preeclampsia, and was delivered. Bilateral facial palsy is a rare entity in pregnancy that may be the first sign of preeclampsia and suggests increased severity of disease, warranting close monitoring.
Spinal cord stimulation to abort painful spasms of atypical stiff limb syndrome.

PubMed

Ughratdar, I; Sivakumar, G; Basu, S

2010-01-01

Stiff limb syndrome (SLS) is a rare chronic condition which can result in significant debility. We report the case of a 44-year-old man suffering from severe painful spasms in his right leg with a diagnosis of SLS. He had been initially treated for his pain with a spinal cord stimulator but presented with exacerbation of pain secondary to a lead fracture for which he underwent revision of the stimulator. Postoperative programming unexpectedly resulted in not only control of his pain but also an ability to abort his spasmodic episodes related to SLS. To our knowledge, spinal cord stimulation has not been previously used for SLS and our report opens up another avenue for this rare condition. We provide a brief overview of SLS and propose an underlying mechanism for the observed phenomenon.
Rare ocular manifestations in an 11-year-old girl with incomplete Kawasaki disease: A case report.

PubMed

Gao, Yunxia; Zhang, Yifan; Lu, Fang; Wang, Xiaoyue; Zhang, Ming

2018-06-01

Kawasaki disease is a necrotizing vasculitis featuring fever, erythema, conjunctivitis, and lymphadenopathy. Ocular manifestations in Kawasaki disease are commonly limited to anterior segment, posterior segment lesions are rarely reported. We report a unique case of ocular manifestations in an 11-year-old girl with incomplete Kawasaki disease. An 11-year-old Asian girl presented with severe enophthalmos, retinitis, retinal detachment, and choroidal detachment secondary to an unexplained fever for 10 days. To the best of our knowledge, this is the first documented case of incomplete Kawasaki disease with severe posterior segment lesions. The local use of dexamethasone in the eye was effective in our patient. Surgical intervention might not be necessary even though the initial symptoms could be devastating. The eye should be monitoring the eye routinely in patients with Kawasaki disease.
Gastroduodenal artery aneurysm - Post traumatic pancreatic pseudocyst drainage - An interesting case.

PubMed

Zarin, Mohammad; Ali, Sajid; Majid, Abdul; Jan, ZakaUllah

2018-01-01

Pseudoaneurysms of the gastroduodenal artery (GDA) are rare and mostly associated with pancreatitis. However, they can occur as a possible complication following gastric or pancreatic surgery and thus prior recognition and prompt treatment is mandatory (Lee et al., 2009 [1]). We report a case of a ruptured GDA aneurysm in a patient who underwent roux-en-y-cystojejunostomy for traumatic pancreatic pseudocyst and this has rarely been reported in the literature. Our patient presented with melena one month post operatively. CT Angiogram showed pseudoaneurysm of the GDA and the origin of right gastroepiploic artery which was embolised. Our case highlights that GDA aneurysm must be considered in the differential for a patient who presents with melena following drainage of traumatic pancreatic pseudocyst and that it can be managed successfully with angioembolization. A young boy was operated for traumatic pancreatic pseudocyst. One month later, he presented with the complaints of melena. Patient was resuscitated initially and then CT Angiogram was planned that showed pseudo aneurysm of the GDA and the origin of right gastroepiploic artery. The aneurysm was embolised and patient was sent home later on. On two months follow up the patient was doing well and had no episode of melena. GDA aneurysm are rare and should be suspected in a patient with GI hemorrhage after surgery for traumatic pancreatic pseudocyst. The investigation of choice is CT Angiography and endovascular angioembolization is the treatment modality of choice. Copyright © 2017. Published by Elsevier Ltd.
Spontaneous rupture of the spleen detected on CT as the initial manifestation of infectious mononucleosis.

PubMed

Gayer, Gabriela; Zandman-Goddard, Gisele; Kosych, Elena; Apter, Sara

2003-04-01

Spontaneous splenic rupture after infectious mononucleosis (IM) is a rare, potentially fatal complication of IM, occurring in 0.1-0.5% of patients with proven IM. It usually occurs several weeks after the onset of symptoms, but may, rarely, be the initial manifestation of the disease. The patient is usually examined as an emergency due to severe abdominal pain and a falling hematocrit. The radiologist should be aware of the pathologic conditions involving the spleen which may lead to its spontaneous rupture.
Incentives for Starting Small Companies Focused on Rare and Neglected Diseases.

PubMed

Ekins, Sean; Wood, Jill

2016-04-01

Starting biotech or pharmaceutical companies is traditionally thought to be based around a scientist, their technology platform or a clinical candidate spun out from another company. Between us we have taken a different approach and formed two small early stage companies after initially leveraging the perspective of a parent with a child with a life-threatening rare disease. Phoenix Nest ( http://www.phoenixnestbiotech.com/ ) was co-founded to work on treatments for Sanfilippo syndrome a devastating neurodegenerative lysosomal storage disorder. In the space of just over 3 years we have built up collaborations with leading scientists in academia and industry and been awarded multiple NIH small business grants. The second company, Collaborations Pharmaceuticals Inc. ( http://www.collaborationspharma.com/ ) was founded to address some of the other 7000 or so rare diseases as well as neglected infectious diseases. The Rare Pediatric Disease Priority Review Voucher is likely the most important incentive for companies working on rare diseases with very small populations. This may also be partially responsible for the recent acquisitions of rare disease companies with late stage candidates. Lessons learned in the process of starting our companies are that rare disease parents or patients can readily partner with a scientist and fund research through NIH grants rather than venture capital or angel investors initially. This process may be slow so patience and perseverance is key. We would encourage other pharmaceutical scientists to meet rare disease parents, patients or advocates and work with them to further the science on their diseases and create a source of future drugs.
Incentives for Starting Small Companies Focused on Rare and Neglected Diseases

PubMed Central

Ekins, Sean; Wood, Jill

2015-01-01

Starting biotech or pharmaceutical companies is traditionally thought to be based around a scientist, their technology platform or a clinical candidate spun out from another company. Between us we have taken a different approach and formed two small early stage companies after initially leveraging the perspective of a parent with a child with a life-threatening rare disease. Phoenix Nest (http://www.phoenixnestbiotech.com/) was co-founded to work on treatments for Sanfilippo syndrome a devastating neurodegenerative lysosomal storage disorder. In the space of just over 3 years we have built up collaborations with leading scientists in academia and industry and been awarded multiple NIH small business grants. The second company, Collaborations Pharmaceuticals Inc. (http://www.collaborationspharma.com/) was founded to address some of the other 7000 or so rare diseases as well as neglected infectious diseases. The Rare Pediatric Disease Priority Review Voucher is likely the most important incentive for companies working on rare diseases with very small populations. This may also be partially responsible for the recent acquisitions of rare disease companies with late stage candidates. Lessons learned in the process of starting our companies are that rare disease parents or patients can readily partner with a scientist and fund research through NIH grants rather than venture capital or angel investors initially. This process may be slow so patience and perseverance is key. We would encourage other pharmaceutical scientists to meet rare disease parents, patients or advocates and work with them to further the science on their diseases and create a source of future drugs. PMID:26666772
Recurrent intestinal volvulus in midgut malrotation causing acute bowel obstruction: A case report

PubMed Central

Sheikh, Fayed; Balarajah, Vickna; Ayantunde, Abraham Abiodun

2013-01-01

Intestinal malrotation occurs when there is a disruption in the normal embryological development of the bowel. The majority of patients present with clinical features in childhood, though rarely a first presentation can take place in adulthood. Recurrent bowel obstruction in patients with previous abdominal operation for midgut malrotation is mostly due to adhesions but very few reported cases have been due to recurrent volvulus. We present the case of a 22-year-old gentleman who had laparotomy in childhood for small bowel volvulus and then presented with acute bowel obstruction. Preoperative computerised tomography scan showed small bowel obstruction and features in keeping with midgut malrotation. Emergency laparotomy findings confirmed midgut malrotation with absent appendix, abnormal location of caecum, ascending colon and small bowel. In addition, there were small bowel volvulus and a segment of terminal ileal stricture. Limited right hemicolectomy was performed with excellent postoperative recovery. This case is presented to illustrate a rare occurrence and raise an awareness of the possibility of dreadful recurrent volvulus even several years following an initial Ladd’s procedure for midgut malrotation. Therefore, one will need to exercise a high index of suspicion and this becomes very crucial in order to ensure prompt surgical intervention and thereby preventing an attendant bowel ischaemia with its associated high fatality. PMID:23556060
Recurrent intestinal volvulus in midgut malrotation causing acute bowel obstruction: A case report.

PubMed

Sheikh, Fayed; Balarajah, Vickna; Ayantunde, Abraham Abiodun

2013-03-27

Intestinal malrotation occurs when there is a disruption in the normal embryological development of the bowel. The majority of patients present with clinical features in childhood, though rarely a first presentation can take place in adulthood. Recurrent bowel obstruction in patients with previous abdominal operation for midgut malrotation is mostly due to adhesions but very few reported cases have been due to recurrent volvulus. We present the case of a 22-year-old gentleman who had laparotomy in childhood for small bowel volvulus and then presented with acute bowel obstruction. Preoperative computerised tomography scan showed small bowel obstruction and features in keeping with midgut malrotation. Emergency laparotomy findings confirmed midgut malrotation with absent appendix, abnormal location of caecum, ascending colon and small bowel. In addition, there were small bowel volvulus and a segment of terminal ileal stricture. Limited right hemicolectomy was performed with excellent postoperative recovery. This case is presented to illustrate a rare occurrence and raise an awareness of the possibility of dreadful recurrent volvulus even several years following an initial Ladd's procedure for midgut malrotation. Therefore, one will need to exercise a high index of suspicion and this becomes very crucial in order to ensure prompt surgical intervention and thereby preventing an attendant bowel ischaemia with its associated high fatality.
Persistent Hiccups-An Unusual Presentation of Bilateral Pheochromocytoma without Syndromic Association: A Case Report.

PubMed

Aherrao, Nitin; Kumar, Nilesh; Gambhir, Indarajeet Singh; Kishore, Dhiraj; Singh, Suryakumar; Mishra, Abhinandan; Anand, Aravind

2012-01-01

Pheochromocytoma is a rare catecholamine-producing tumor arising from chromaffin tissue in the adrenal medulla, occurring in less than 0.2 percent of patients with hypertension. The mean age at diagnosis is about 40 years. Pheochromocytomas are commonly inherited as features of multiple endocrine neoplasia type 2 or several other pheochromocytoma-associated syndromes and have variable clinical presentation. Among the presenting symptoms, episodes of palpitations, headaches, and profuse sweating are typical and constitute a classic triad. We report a case of a 17-year-old male patient with rare bilateral pheochromocytoma presenting with persistent hiccups for 4 months and blurring of vision for 1 week, later followed by hypertensive crisis. There was neither family history of pheochromocytoma nor any classic symptoms. Patient was diagnosed with bilateral pheochromocytoma without any syndromic association. But still this patient needs to be followed for future development of medullary carcinoma of thyroid because it could be an initial presentation of MEN 2A/2B/VHL syndromes. Our paper highlights the importance of maintaining a high level of suspicion for persistent hiccups and careful clinical screening for hypertension even in absence of associated syndromes of pheochromocytoma and classical symptoms to achieve prompt diagnosis and to avoid improper management.
A case report: Giant cystic parathyroid adenoma presenting with parathyroid crisis after Vitamin D replacement.

PubMed

Asghar, Ali; Ikram, Mubasher; Islam, Najmul

2012-07-28

Parathyroid adenoma with cystic degeneration is a rare cause of primary hyperparathyroidism. The clinical and biochemical presentation may mimic parathyroid carcinoma. We report the case of a 55 year old lady, who had longstanding history of depression and acid peptic disease. Serum calcium eight months prior to presentation was slightly high, but she was never worked up. She was found to be Vitamin D deficient while being investigated for generalized body aches. A month after she was replaced with Vitamin D, she presented to us with parathyroid crisis. Her corrected serum calcium was 23.0 mg/dL. She had severe gastrointestinal symptoms and acute kidney injury. She had unexplained consistent hypokalemia until surgery. Neck ultrasound and CT scan revealed giant parathyroid cyst extending into the mediastinum. After initial medical management for parathyroid crisis, parathyroid cystic adenoma was surgically excised. Her serum calcium, intact parathyroid hormone, creatinine and potassium levels normalized after surgery. This case of parathyroid crisis, with very high serum calcium and parathyroid hormone levels, is a rare presentation of parathyroid adenoma with cystic degeneration. This case also highlights that Vitamin D replacement may unmask subclinical hyperparathyroidism. Consistent hypokalemia until surgery merits research into its association with hypercalcemia.
Insulin oedema in a child with newly diagnosed diabetes mellitus.

PubMed

Aravamudhan, Avinash; Gardner, Chris; Smith, Claire; Senniappan, Senthil

2014-05-01

Insulin oedema is a rare complication of insulin therapy for diabetes mellitus. It has been reported in type 1 diabetes mellitus, in poorly controlled type 2 diabetes mellitus following either the initiation or intensification of insulin therapy and in underweight patients on large doses of insulin. There are only a few case reports since it was first described in 1928, showing that it is an uncommon and probably an under-reported complication. The majority of those reports have been in the adult population. The generalised oedema tends to develop shortly after initiation or intensification of insulin therapy and resolves spontaneously within few weeks. We present one of the youngest patients reported in the literature, a 9-year-old boy who developed insulin oedema within few days of presenting with diabetic ketoacidosis. The case highlights the importance of recognising this generally transient and self-resolving complication and differentiating it from other serious causes of oedema.
Acute Illness Protocol for Maple Syrup Urine Disease.

PubMed

Rodan, Lance H; Aldubayan, Saud H; Berry, Gerard T; Levy, Harvey L

2018-01-01

Inborn errors of metabolism (IEMs) are genetic disorders that disrupt enzyme activity, cellular transport, or energy production. They are individually rare but collectively have an incidence of 1:1000. Most patients with IEMs are followed up by a physician with expertise in biochemical genetics (metabolism), but may present outside this setting. Because IEMs can present acutely with life-threatening crises that require specific interventions, it is critical for the emergency medicine physician, pediatrician, internist, and critical care physician as well as the biochemical geneticist to have information on the initial assessment and management of patients with these disorders. Appropriate early care can be lifesaving. This protocol is not designed to replace the expert consultation of a biochemical geneticist, but rather to improve early care and increase the level of comfort of the acute care physician with initial management of maple syrup urine disease until specialty consultation is obtained.
Small bowel injury after suprapubic catheter insertion presenting 3 years after initial insertion

PubMed Central

Gallagher, Kevin M; Good, Daniel W; Brush, John P; Al-hasso, Ammar; Stewart, Grant D

2013-01-01

A 77-year-old woman was referred to urology with blockages of her suprapubic catheter (SPC). The catheter was replaced easily in the emergency department, however, no urine was draining, only a cloudy green fluid was visible. On cystoscopy bilious material was identified in the bladder. There was no catheter visible. There seemed to be a fistulous tract entering the bladder at the left dome. The urethra was dilated, a urethral catheter was placed and the SPC was removed. A CT demonstrated that the SPC tract transfixed a loop of pelvic small bowel and entered the bladder with no intraperitoneal contrast leak. The patient recovered well and did not require laparotomy. This case emphasises that bowel perforation, although rare, must be considered as a complication of SPC placement even years after initial insertion when catheter problems arise. Unusually, we learn that this complication may not present with abdominal pain or peritonism. PMID:24326435
An aggressive primary orbital natural killer/T-cell lymphoma case: poor response to chemotherapy.

PubMed

Marchino, Tizana; Ibáñez, Núria; Prieto, Sebastián; Novelli, Silvana; Szafranska, Justyna; Mozos, Anna; Graell, Xavier; Buil, José A

2014-01-01

Natural killer/T-cell lymphoma (NKTCL) and its presentation with extranodal orbital involvement as a single lesion are extremely rare. The aim of this article was to describe the presentation, diagnosis, and systemic treatment of a primary orbital NKTCL. A 67-year-old Caucasian woman presented with left exophthalmos, pain, periorbital swelling, and limited extrinsic ocular motility. Orbital cellulitis was suspected, but finally orbital biopsy was performed due to no response to initial antibiotic and anti-inflammatory standard treatment. The pathologic diagnosis was NKTCL. Systemic evaluations were negative. CHOP (cyclophosphamide, doxorubicin, vincristine, prednisone) chemotherapy was initiated, but after 2 cycles of treatment, tumoral progression was observed. SMILE (dexamethasone, methotrexate, ifosfamide, L-asparaginase, etoposide) rescue chemotherapy was then administered. Lymphoma progression was inevitable. She died 10 months later. Although more nasal NKTCL cases have been described, the nonnasal primary orbital NKTCL is an uncommon neoplasm with high mortality rate, despite the recent use of more potent chemotherapy regimens.
Primary peritoneal serous carcinoma presenting as inflammatory breast cancer.

PubMed

Khalifeh, Ibrahim; Deavers, Michael T; Cristofanilli, Massimo; Coleman, Robert L; Malpica, Anais; Gilcrease, Michael Z

2009-01-01

Metastasis to the breast from extramammary malignancies is rare. Nevertheless, its recognition is important because the prognosis and treatment differ from that of primary breast cancer. We report a unique case of primary peritoneal serous carcinoma that initially presented as inflammatory breast cancer. The patient received neoadjuvant chemotherapy for breast cancer and subsequently underwent bilateral total mastectomy and bilateral sentinel lymph node biopsy. She was found to have extensive intralymphatic carcinoma in both breasts, with only focal minimal breast parenchymal involvement, and residual metastatic carcinoma in bilateral sentinel lymph nodes. Further work-up revealed pelvic ascites and omental nodularities. The patient underwent laparoscopic bilateral salpingo-oophorectomy, which revealed high-grade serous carcinoma involving both ovaries and fallopian tubes. Molecular testing of tumor from the ovary and axillary lymph node showed an identical pattern of allelic loss, confirming a common origin for both tumors. To our knowledge, this is the first reported case of an extramammary primary malignancy that not only presented as inflammatory breast cancer but also was diagnosed and initially treated as such.
Acute diffuse alveolar haemorrhage accompanied by gastrointestinal bleeding in a patient with serious systemic lupus erythematosus: A case report.

PubMed

Du, Jing; Wang, Ying; Li, Yan-Chun; Wang, Tong-Tong; Zhou, Yong-Lie; Ying, Zhen-Hua

2018-05-01

Systemic lupus erythematosus (SLE) is an autoimmune disease that affects many organs, but multisystem dysfunction is rare. Here, we report a case of a 29-year-old woman who was initially diagnosed with SLE complications including lupus nephritis, lupus encephalopathy, renal hypertension, thrombocytopenia, anaemia and hyperkalaemia. She recovered following treatment with high dose methylprednisolone, intravenous immunoglobulin (IVIG) and continuous renal replacement therapy (CRRT). However, a few days after hospital discharge, she developed gastrointestinal bleeding. Although intensive treatment was administered, the patient deteriorated rapidly and had a progressive decline in oxygen saturation followed by diffuse alveolar haemorrhage and acute left heart failure. Inotropic therapy, mechanical ventilation, blood transfusion, CRRT, antibiotics, intravenous glucocorticoids and other support therapies were initiated and gradually the patient's vital signs stabilized and haemoptysis subsided. This case report emphasises that complications of SLE can occur at any stage of the disease, especially in patients with active SLE. Therefore, it is important for clinicians to be aware of the rare presentations of SLE and its complex management. For multisystem dysfunction, early intensive treatment with high dose corticosteroids and cyclophosphamide is advocated.
Inflammatory metastatic breast cancer with gallbladder metastasis: an incidental finding.

PubMed

Ebrahim, Hassan; Graham, David; Rice, David; Ribadeneyra, Michael; Thorner, Kim; Shipley, William; Wehmueller, Michael

2015-07-01

Breast cancer is the most frequently diagnosed cancer in women, with an estimated 231,840 new cases representing 14.0% of all new cancer cases in the United States in 2015. Early screening and modern techniques of imaging and diagnosis have led to a significant improvement in detecting early-stage breast cancers and to a decrease in the incidence of metastatic breast cancer (MBC). About 20%-30% of patients who are initially diagnosed with an early-stage, nonmetastatic breast cancer will subsequently develop a distant metastatic disease. Between 6%-10% of the new breast cancer cases present initially as stage IV, referred to as de novo MBC. The most common sites of breast cancer metastases are lymph nodes, chest wall, skeleton, lung, skin, and the central nervous system (CNS). Lobular carcinoma, in particular, may metastasize to the gastrointestinal tract, peritoneum, and retroperitoneum. Gallbladder metastasis from breast cancer is very rare, and only 15-20 cases have been reported in the literature. Most of those cases have been associated particularly with a lobular histology. We report an additional rare case of MBC to the gallbladder, but with a ductal histology. ©2015 Frontline Medical Communications.
A case report: a young waiter with Paget-Schroetter syndrome.

PubMed

Drakos, Nicholas; Gausche-Hill, Marianne

2013-03-01

Paget-Schroetter syndrome (PSS) is a rare presentation of primary axillary subclavian vein thrombosis that classically occurs in young men with a degree of underlying thoracic outlet syndrome after a period of upper extremity exertion. The primary complication of PSS is post-thrombotic syndrome, a result of chronic venous hypertension. To educate Emergency Physicians on this condition to potentiate timely diagnosis and appropriate disposition. A 29-year-old right-handed restaurant waiter presented with 3 days of non-painful, gradual-onset right upper extremity swelling with normal vital signs. The patient's history was otherwise notable for subjective fevers and a right forearm abrasion. Upon examination, the right upper extremity was neurovascularly intact and remarkable for uniform edema and erythema extending distally from the level of the mid-humerus. The primary differential diagnoses were deep venous thrombosis (DVT) vs. soft tissue infection. Venous phase contrast computed tomography did not reveal evidence of underlying soft tissue infection and was inconclusive regarding a DVT. Ultrasound demonstrated a right subclavian vein DVT. The patient was admitted and underwent thrombolysis, venolysis, and first rib resection and initiation of warfarin. PSS is a rare presentation of upper-extremity DVT occurring classically in patients without commonly recognized pro-thrombotic risk factors. PSS carries the potential of significant morbidity in the form of post-thrombotic syndrome and pulmonary embolism. Current literature suggests that optimal outcomes are achieved when treatment is initiated within 6 weeks of onset. The treatment paradigm calls for thrombolysis and, frequently, a first rib resection. Copyright © 2013 Elsevier Inc. All rights reserved.

A Hispanic female patient with heartburn: A rare presentation of Paroxysmal Nocturnal Hemoglobinuria.

PubMed

Figueroa-Jiménez, Luis A; González-Márquez, Amy Lee; Alicea-Guevara, Ricardo; Santiago-Casiano, Mónica; de la Paz-López, Maryknoll; Negrón-Garcia, Luis; Báez-Diaz, Luis; Cáceres-Pérkins, William

2015-01-01

Paroxysmal nocturnal hemoglobinuria (PNH) is a non-malignant, acquired clonal hematopoietic stem cell disease that can present with bone marrow failure, hemolytic anemia, smooth muscle dystonias, and thrombosis. We present a case of a 32 year-old-female, G2P2A0 with no past medical history of any systemic illnesses who refers approximately 2 months of progressively worsening constant heartburn with associated abdominal discomfort. CBC showed leukopenia (WBC 2.9 x 103 /µL) with neutropenia (segmented neutrophils 48%), macrocytic anemia (Hgb 6.1 g/dL, hematocrit 20%, MCV,113 fL) and thrombocytopenia (platelet count 59 x 109/L). Abdomino-pelvic CT scan revealed a superior mesenterc vein thrombosis, which was treated initially with low-molecular-weight heparih for full anticoagulation. Peripheral blood flow cytometry assays revealed diminished expression of CD55 and CD59 on the erythrocytes, granulocytes and monocytes.' Paroxysmal nocturnal hemoglobinuria is a rare, clonal, hematopoietic stem-cell disorder whose manifestations are almost entirely explained by complement-mediated intravascular hemolysis. The natural history of PNH is highly variable, ranging from indolent to life-threatening. The median survival is 10 to 15 years, but with a wide range. Thrombosis is the leading cause of death, but others may die of complications of bone marrow failure, renal failure, myelodysplastic syndrome, and leukemia. Anticoagulation is only partially effective in preventing thrombosis in PNH; thus, thrombosis is an absolute indication for initiating treatment with Eculizumab. Nevertheless, bone marrow transplantation (BMT) is still the only curative therapy for PNH but is associated with significant morbidity and mortality.
McCune-Albright syndrome associated with pituitary microadenoma: patient report.

PubMed

Chen, Chun-Jung; Liu, Jah-Yao; Cheng, Shin-Nan; Chang, Fung-Wei; Yuh, Yeong-Seng

2004-03-01

McCune-Albright syndrome (MAS) is a rare disorder characterized by the classic triad of precocious puberty, polyostotic fibrous dysplasia and café-au-lait spots. Additional endocrine abnormalities may also be present, including hyperthyroidism, growth hormone excess and hyperprolactinemia. The most commonly encountered endocrine dysfunction is gonadal hyperfunction. Gonadotropin-independent precocious puberty is typically the initial manifestation of MAS in girls. Ovarian cysts may be detected on pelvic ultrasound. Our patient was also found to have pituitary microadenoma, evidenced by dynamic magnetic resonance imaging.
[Two cases of anaphylactoid reaction after administration of sugammadex].

PubMed

Ohshita, Naohiro; Tsutsumi, Yasuo M; Kasai, Asuka; Soga, Tomohiro; Kanamura, Tomomi; Katayama, Toshiko; Iseki, Akio; Tomiyama, Yoshinobu; Tanaka, Katsuya

2012-11-01

Anaphylaxis during anesthesia is a rare but life-threatening event. Sugammadex is a recently introduced drug that was specifically designed for the reversal of rocuroium and vecuronium-induced neuromuscular block. We describe the cases of a 74-year-old man and a 29-year-old man who developed an anaphylactoid reaction to sugammadex, presenting with cardiovascular collapse. Initial management consisted of fluid administration and intermittent i.v. ephedrine, epinephrine, and hydrocortisone. The patients made uncomplicated recovery and were discharged.
Tracheal paraganglioma: an unusual neoplasm of the upper airway.

PubMed

Metzdorff, Mark T; Seaman, Joseph C; Opperman, David A; Goates, Jeffrey J; Musani, Ali I

2012-05-01

Paraganglioma of the trachea is a rare neoplasm, with fewer than 15 cases reported. A 40-year-old man presented with stridor and hemoptysis. Bronchoscopy demonstrated a tumor of the posterior trachea and biopsy initially suggested typical carcinoid. The patient underwent surgical resection uneventfully and made a good recovery. Final pathology disclosed the tumor to be a paraganglioma based on immunohistology. The pathophysiology and treatment of this tumor are discussed. Copyright © 2012 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.
Terbinafine-induced lichenoid drug eruption.

PubMed

Zheng, Yue; Zhang, Jie; Chen, Haiyan; Lai, Wei; Maibach, Howard I

2017-03-01

Drug-induced lichen planus has been induced by antibiotics, anticonvulsants, antidiabetics, antimalarials, antitubercular drugs, antihypertensives, psychiatric drugs, chemotherapeutic agents, diuretic, heavy metals, NSAIDs, etc. Terbinafine, an antifungal agent, is widely used for dermatophyte infections and onychomycosis. Cutaneous adverse effects of terbinafine are rarely reported. Here, we report a case of terbinafine-induced lichenoid drug eruption in a 22-year-old who presented with generalized lichenoid eruption 2 weeks after terbinafine initiation of. The body and lip cleared completely after 8 weeks of drug withdrawal; nail change cleared after 12 weeks.
Hemophagocytic lymphohistiocytosis (HLH) secondary to disseminated histoplasmosis in the setting of Acquired Immunodeficiency Syndrome (AIDS).

PubMed

Asanad, Samuel; Cerk, Brendan; Ramirez, Veronica

2018-06-01

Hemophagocytic lymphohistiocytosis (HLH) is a rare and aggressive disease involving immune system over-activation leading to hemophagocytosis. HLH requires early diagnosis and prompt treatment initiation, especially in patients with Acquired Immunodeficiency Syndrome (AIDS). We present a case of a middle-aged male with AIDS and renal failure, who developed HLH secondary to disseminated histoplasmosis. Etoposide chemotherapy as recommended by the HLH 2004 Guidelines was deferred and treatment focused instead on anti-fungal therapy. Anti-retroviral therapy followed thereafter.
Minimum energy control and optimal-satisfactory control of Boolean control network

NASA Astrophysics Data System (ADS)

Li, Fangfei; Lu, Xiwen

2013-12-01

In the literatures, to transfer the Boolean control network from the initial state to the desired state, the expenditure of energy has been rarely considered. Motivated by this, this Letter investigates the minimum energy control and optimal-satisfactory control of Boolean control network. Based on the semi-tensor product of matrices and Floyd's algorithm, minimum energy, constrained minimum energy and optimal-satisfactory control design for Boolean control network are given respectively. A numerical example is presented to illustrate the efficiency of the obtained results.
Intra-Articular Entrapment of the Medial Epicondyle following a Traumatic Fracture Dislocation of the Elbow in an Adult

PubMed Central

Hassan, Youssef G.; Joukhadar, Nabih I.

2018-01-01

Medial epicondyle entrapment after an acute fracture dislocation of the elbow is a common finding in the pediatric population, but a rare finding in adults. We present a case of an adult patient diagnosed with a traumatic fracture dislocation of the elbow joint with intra-articular entrapment of the medial epicondyle. After initial evaluation, closed reduction was done. Stability testing after reduction showed an unstable joint; thus, open reduction and internal fixation was decided. PMID:29666736
Obstructive hydrocephalus and facial nerve palsy secondary to vertebrobasilar dolichoectasia: Case Report

PubMed Central

Mohammed, Kazim; Iqbal, Javeed; Kamel, Hussein; Mathew, John; Al-Sulaiti, Ghanem

2018-01-01

Background: Symptomatic hydrocephalus due to vertebrobasilar dolichoectasia is a rare occurrence. Case Description: We report a patient who presented with acute confusion and vomiting. Neuroimaging revealed elongated and tortuous basilar artery indenting and elevating the floor of third ventricle causing obstructive hydrocephalus. Initially, the patient was treated with external ventricular drain and then with ventriculo-peritoneal shunt. Conclusion: We suggest prompt surgical intervention upon diagnosis as a first choice of treatment in order to avoid further complications. PMID:29629227
Hyperthyroidism–cause of depression and psychosis: a case report

PubMed Central

Marian, G; Ionescu, BE; Ghinea, D

2009-01-01

Psychiatric symptoms have been reported quite frequently in certain thyroid diseases, but more frequently in association with hypothyroidism. Thyrotoxicosis can be associated with various psychiatric symptoms, such as emotional lability, anxiety, restlessness and rarely frank psychosis. Psychotic symptoms in the context of hyperthyroidism typically present as an affective psychosis. The link between psychosis and hyperthyroidism is poorly understood. Because of this association of psychiatric symptoms is important to exclude a somatic cause, when assessing a patient first. We present the case of young woman who was followed over 2 years and who initially presented to psychiatric consultation for depressive symptoms, after being diagnosed with hyperthyroidism and specific therapy instituted, but who developed psychotic symptoms. PMID:20108759
Urinary urge seizure semiology localization by intracranial monitoring.

PubMed

Rengarajan, Ronak; Shamim, Sadat

2018-01-01

Seizures may present with many different symptom complexes. Seizure semiologies have localization value when contemplating surgical therapies. Epilepsy presenting as a desire to micturate is exceedingly rare, with only a handful of published cases. We present a patient who had initially unexplained childhood urinary urge that progressed into lapses of memory and confusion that was eventually diagnosed as epilepsy in adulthood. Due to refractoriness to medical management, our patient's epileptic focus was localized through both noninvasive and invasive subdural electrode arrays to the nondominant medial temporal lobe and successfully treated with an amygdalohippocampectomy. Only one other case of ictal urinary urgency seizures has been recorded with intracranial electroencephalogram monitoring in the literature.
Hyperthyroidism--cause of depression and psychosis: a case report.

PubMed

Marian, G; Nica, E A; Ionescu, B E; Ghinea, D

2009-01-01

Psychiatric symptoms have been reported quite frequently in certain thyroid diseases, but more frequently in association with hypothyroidism. Thyrotoxicosis can be associated with various psychiatric symptoms, such as emotional lability, anxiety, restlessness and rarely frank psychosis. Psychotic symptoms in the context of hyperthyroidism typically present as an affective psychosis. The link between psychosis and hyperthyroidism is poorly understood. Because of this association of psychiatric symptoms is important to exclude a somatic cause, when assessing a patient first. We present the case of young woman who was followed over 2 years and who initially presented to psychiatric consultation for depressive symptoms, after being diagnosed with hyperthyroidism and specific therapy instituted, but who developed psychotic symptoms.
Urinary urge seizure semiology localization by intracranial monitoring

PubMed Central

Rengarajan, Ronak; Shamim, Sadat

2018-01-01

ABSTRACT Seizures may present with many different symptom complexes. Seizure semiologies have localization value when contemplating surgical therapies. Epilepsy presenting as a desire to micturate is exceedingly rare, with only a handful of published cases. We present a patient who had initially unexplained childhood urinary urge that progressed into lapses of memory and confusion that was eventually diagnosed as epilepsy in adulthood. Due to refractoriness to medical management, our patient's epileptic focus was localized through both noninvasive and invasive subdural electrode arrays to the nondominant medial temporal lobe and successfully treated with an amygdalohippocampectomy. Only one other case of ictal urinary urgency seizures has been recorded with intracranial electroencephalogram monitoring in the literature. PMID:29686574
Growth Restart/Recovery Lines involving the vertebral body: a rare, incidental finding and diagnostic challenge in two patients

PubMed Central

Sajko, Sandy; Stuber, Kent; Wessely, Michelle

2011-01-01

Objective To present the phenomenon of growth restart lines and create awareness of the possible differential diagnoses. Clinical Features Two case reports outlining the presentation of growth restart lines found in the vertebrae of trampolinists. Emphasis in each case is placed on correlating the patient history with radiographic findings. Intervention and Outcome In both cases a conservative chiropractic treatment plan was initiated once the differential diagnoses could be ruled out. Conclusion Although the range of etiologies of growth restart lines is extensive, these case reports illustrate the importance of a comprehensive case history when presented with the radiographic finding of growth restart lines. PMID:22131568
Primary Vaginal Melanoma, A Rare and Aggressive Entity. A Case Report and Review of the Literature.

PubMed

Kalampokas, Emmanouil; Kalampokas, Theodoros; Damaskos, Christos

2017-01-02

Malignant melanoma of the vagina is a rare, aggressive malignancy of poor prognosis. It principally affects post-menopausal women, with a mean age of 57 years, and the factors that contribute to its appearance are not well known. The first case of primary malignant vaginal melanoma was reported in 1887 and modern literature has noted about 500 cases, globally. Vaginal melanomas constitute 0.3% of all malignant melanomas and fewer than 3% of all vaginal carcinomas. To date there is no clear consensus regarding treatment. An early, accurate diagnosis and prompt investigation is essential in reaching appropriate treatment decisions. We present a clinical case of primary vaginal melanoma and review the literature briefly, presenting the current treatment plans and updates of this rare gynecological malignancy. Considerations, epidemiology, associated risk factors, response to therapy and expected outcome are also discussed. Primary malignant vaginal melanoma is a rare but aggressive melanoma that affects women in their 6th and 7th decade of life. The tumor appears as a dark node or spindle but can also be amelanotic. The size of the tumor is indicative of the prognostic factors. Surgery seems to be the only efficient treatment. Postoperative adjuvant therapy might help in preventing recurrence of the tumor. The survival rate is largely dependent on nodal and distant metastasis of the disease after initial tumor resection. There is a dire need to form a proper therapeutic regime to control this disease. Copyright© 2017, International Institute of Anticancer Research (Dr. George J. Delinasios), All rights reserved.
Isolated splenic metastasis of endometrial adenocarcinoma--a case report.

PubMed

Andrei, S; Preda, C; Andrei, A; Becheanu, G; Herlea, V; Lupescu, I; Popescu, I

2011-01-01

The spleen in rarely the place for solid, non-haematological tumors, isolated splenic metastases from adenocarcinomas being extremely rare findings, regardless of the origin and the histological type of the primary tumor. We present the case of a female patient with isolated splenic metastasis diagnosed by abdominal computer tomography at only 20 months after curative surgery for endometrial adenocarcinoma, in which the final diagnosis has been established by histological and immunohistochemical examination of the splenectomy piece. The haematogenous dissemination of the endometrial cancer occurs most commonly in the lungs, liver or bones, the spleen being rarely affected. In the medical literature there are cited up to date only 12 cases of solitary splenic metastasis from endometrial adenocarcinoma. The particularity of the case presented by us is the early appearance of an isolated splenic metastasis, at less than two years after curative surgery (compared to an average of 4-5 years cited in the literature), from an endometrial cancer which was classified histologicaly in the group with low-risk for relapse (well differentiated endometrioid adenocarcinoma). In conclusion, although solitary splenic secondary determinations are very rare, the incidence of the reported cases in the medical literature is increasing, their late appearance (a few years after the primary tumor's resection) and the lack of symptoms until the tumor reaches appreciable size or it complicates with necrosis, justifies the periodic abdominal imaging examination, on long-term, for postoperative monitorisation after the initial curative surgery. Their treatment of choice is open, classical splenectomy that must be followed by chemotherapy in order to prevent the development of other possible micrometastases.
Study Provides Insights into Diagnosis, Treatment of Rare Immune Disease: Autoimmmune Lymphoproliferative Syndrome ...

MedlinePlus

... Award Negotiation & Initial Award After Award Foreign Grants Management Getting Your Initial International Award Actions You Can Take as the Project Leader on a Foreign Grant Subawards for Foreign ...
Chronic inflammatory demyelinating polyneuropathy-like neuropathy as an initial presentation of Crohn's disease.

PubMed

Kim, Suji; Kang, Seok-Jae; Oh, Ki-Wook; Ahn, Byung Kyu; Lee, Hang Lak; Han, Dong Soo; Jang, Kiseok; Kim, Young Seo

2015-03-28

Chronic inflammatory demyelinating polyneuropathy (CIDP) is a rare complication of Crohn's disease (CD), and it is uncertain whether it is associated with CD itself or with its treatment. We describe a case of CIDP-like neuropathy as an initial symptom of CD. The neurologic symptoms of the patient which responded partially to intravenous immunoglobulin (IVIG) recovered after resection of the appendiceal CD. A 17-year-old male had experienced three separate attacks of motor weakness and paresthesia of all four extremities over a period of 7 months. The electrophysiologic findings revealed a demyelinating sensory-motor polyneuropathy which was compatible with CIDP. However, repeated intravenous IVIG (2 g/kg) treatment gave only a partial response. Four days after the last discharge, he was diagnosed as appendiceal CD after surgical resection of a periappendiceal abscess. His neurologic symptoms and electrophysiologic findings recovered without any maintenance therapy. CIDP-like neuropathy can be an initial presentation of CD, and recovery of the CIDP symptoms may result from resection of the CD. Clinicians should be aware of the possibility of CD in patients with intractable CIDP symptoms.
Febuxostat-associated eosinophilic polymyositis in marginal zone lymphoma.

PubMed

Chahine, Georges; Saleh, Khalil; Ghorra, Claude; Khoury, Nathalie; Khalife, Nadine; Fayad, Fouad

2017-03-01

Febuxostat is an orally administered selective inhibitor of xanthine oxidase approved for the treatment of gout and prevention of tumor lysis syndrome. It is a relatively safe medication. Hypersensitivity reactions associated with the use of febuxostat are quite rare with only one reported case of DRESS syndrome. Recently, two case reports of rhabdomyolysis following the initiation of febuxostat were published. We hereby present the first case of rhabdomyolysis with hypereosinophilia following the administration of febuxostat to a 50-year-old patient newly diagnosed with marginal zone lymphoma. Three weeks after the initiation of febuxostat for tumor lysis syndrome prophylaxis, the patient presented with generalized weakness, diffuse myalgia and low-grade fever. Initial studies showed creatinine kinase level of 4471, hypereosinophilia of 1900/mm 3 , and LDH of 2691. All infectious and autoimmune diseases were ruled out. TSH level was normal. Muscle biopsy showed myonecrosis in addition to an eosinophilic inflammatory infiltrate in the endomysium and perimysium. Discontinuation of febuxostat led to prompt symptom resolution and normalization of blood tests eight days later. Copyright © 2016 Société française de rhumatologie. Published by Elsevier SAS. All rights reserved.
[Searching for Rare Celestial Objects Automatically from Stellar Spectra of the Sloan Digital Sky Survey Data Release Eight].

PubMed

Si, Jian-min; Luo, A-li; Wu, Fu-zhao; Wu, Yi-hong

2015-03-01

There are many valuable rare and unusual objects in spectra dataset of Sloan Digital Sky Survey (SDSS) Data Release eight (DR8), such as special white dwarfs (DZ, DQ, DC), carbon stars, white dwarf main-sequence binaries (WDMS), cataclysmic variable (CV) stars and so on, so it is extremely significant to search for rare and unusual celestial objects from massive spectra dataset. A novel algorithm based on Kernel dense estimation and K-nearest neighborhoods (KNN) has been presented, and applied to search for rare and unusual celestial objects from 546 383 stellar spectra of SDSS DR8. Their densities are estimated using Gaussian kernel density estimation, the top 5 000 spectra in descend order by their densities are selected as rare objects, and the top 300 000 spectra in ascend order by their densities are selected as normal objects. Then, KNN were used to classify the rest objects, and simultaneously K nearest neighbors of the 5 000 rare spectra are also selected as rare objects. As a result, there are totally 21 193 spectra selected as initial rare spectra, which include error spectra caused by deletion, redden, bad calibration, spectra consisting of different physically irrelevant components, planetary nebulas, QSOs, special white dwarfs (DZ, DQ, DC), carbon stars, white dwarf main-sequence binaries (WDMS), cataclysmic variable (CV) stars and so on. By cross identification with SIMBAD, NED, ADS and major literature, it is found that three DZ white dwarfs, one WDMS, two CVs with company of G-type star, three CVs candidates, six DC white dwarfs, one DC white dwarf candidate and one BL Lacertae (BL lac) candidate are our new findings. We also have found one special DA white dwarf with emission lines of Ca II triple and Mg I, and one unknown object whose spectrum looks like a late M star with emission lines and its image looks like a galaxy or nebula.

Association analysis of rare variants near the APOE region with CSF and neuroimaging biomarkers of Alzheimer's disease.

PubMed

Nho, Kwangsik; Kim, Sungeun; Horgusluoglu, Emrin; Risacher, Shannon L; Shen, Li; Kim, Dokyoon; Lee, Seunggeun; Foroud, Tatiana; Shaw, Leslie M; Trojanowski, John Q; Aisen, Paul S; Petersen, Ronald C; Jack, Clifford R; Weiner, Michael W; Green, Robert C; Toga, Arthur W; Saykin, Andrew J

2017-05-24

The APOE ε4 allele is the most significant common genetic risk factor for late-onset Alzheimer's disease (LOAD). The region surrounding APOE on chromosome 19 has also shown consistent association with LOAD. However, no common variants in the region remain significant after adjusting for APOE genotype. We report a rare variant association analysis of genes in the vicinity of APOE with cerebrospinal fluid (CSF) and neuroimaging biomarkers of LOAD. Whole genome sequencing (WGS) was performed on 817 blood DNA samples from the Alzheimer's Disease Neuroimaging Initiative (ADNI). Sequence data from 757 non-Hispanic Caucasian participants was used in the present analysis. We extracted all rare variants (MAF (minor allele frequency) < 0.05) within a 312 kb window in APOE's vicinity encompassing 12 genes. We assessed CSF and neuroimaging (MRI and PET) biomarkers as LOAD-related quantitative endophenotypes. Gene-based analyses of rare variants were performed using the optimal Sequence Kernel Association Test (SKAT-O). A total of 3,334 rare variants (MAF < 0.05) were found within the APOE region. Among them, 72 rare non-synonymous variants were observed. Eight genes spanning the APOE region were significantly associated with CSF Aβ 1-42 (p < 1.0 × 10 -3 ). After controlling for APOE genotype and adjusting for multiple comparisons, 4 genes (CBLC, BCAM, APOE, and RELB) remained significant. Whole-brain surface-based analysis identified highly significant clusters associated with rare variants of CBLC in the temporal lobe region including the entorhinal cortex, as well as frontal lobe regions. Whole-brain voxel-wise analysis of amyloid PET identified significant clusters in the bilateral frontal and parietal lobes showing associations of rare variants of RELB with cortical amyloid burden. Rare variants within genes spanning the APOE region are significantly associated with LOAD-related CSF Aβ 1-42 and neuroimaging biomarkers after adjusting for APOE genotype. These findings warrant further investigation and illustrate the role of next generation sequencing and quantitative endophenotypes in assessing rare variants which may help explain missing heritability in AD and other complex diseases.
POEMS Syndrome Presentation with an Abscess within the Plasmacytoma—A Rare Case Report

PubMed Central

Agarwal, Rishi; Abidi, Muneer H.; Grandhi, Bala

2011-01-01

POEMS Syndrome is a rare cause of demyelinating and axonal mixed neuropathy. Plasmacytomas are usually seen in POEMS syndrome and can be osseous or extramedullary. Plasmacytomas presenting as an abscess has not been noted earlier. Our patient presented with localized hyperpigmented patch on the back and later developed progressive weakness in upper and lower limbs. Initially serum and urine protein electrophoresis were normal. The patient was thought to have Chronic Inflammatory Demyelinating Polyneuropathy and was treated accordingly without any improvement. Repeat serum protein electrophoresis showed monoclonal gammopathy. MRI of the back revealed an abscess in the paravertebral soft tissues reaching up to the skin. Needle biopsy was consistent with plasmacytoma. Later, he developed a purulent fungating lesion in the lower midback. Antibiotics were started and local resection was done followed by radiation. Pathology of the resected mass showed plasmacytoma extensively involving subcutaneous soft tissue and bone. The patient improved with the treatment. Cystic plasmacytomas and abscess within the plasmacytoma has not been reported earlier. Whether abscess formation is part of the disease spectrum due to infiltration of overlying tissue or is secondary to localized immunosuppression is unknown. Local treatment of a single plasmacytoma is useful in ameliorating systemic symptoms. PMID:22084694
Acute appendicitis-like symptoms as initial presentation of ovarian vein thrombosis.

PubMed

Prieto-Nieto, M I; Perez-Robledo, J P; Rodriguez-Montes, J A; Garci-Sancho-Martin, L

2004-07-01

Postpartum ovarian vein thrombosis is a rare condition, with an incidence rate being 1/600 deliveries. It most often arises in the right ovarian vein. A 33-year-old patient who had had normal vaginal delivery presented with fever, pain in the right iliac fossa, and leukocytosis on the sixth day after delivery. An antibiotic course was instituted but 3 days later symptoms reappeared. Diagnosis of acute appendicitis was made. At surgery through a McBurney incision, a woody tumoration consistent with ovarian vein thrombosis was found. Anticoagulation therapy with heparin and antibiotics were instituted. Phlebography and color Doppler sonography confirmed the presence of thrombosis of both the common femoral iliac and inferior vena cava. Fribrolysis with urokinase was performed. The patient has remained stable and symptom-free over a 4-year follow-up. Ovarian vein thrombosis typically presents with symptoms suggestive of acute appendicitis, as was the case in our patient. Color Doppler sonography is the favored diagnostic procedure, with CT being a supplementary tool. Surgery is not necessary and treatment consists of anticoagulants and antibiotics. Even though postpartum ovarian vein thrombosis is rare, early recognition of the condition is of paramount importance to institute the adequate treatment and avoid potential serious sequelae.
A case report of hyperosmolar hyperglycemic state in a 7-year-old child: An unusual presentation of first appearance of type 1 diabetes mellitus.

PubMed

Cho, Young Min; Park, Byung Sung; Kang, Min Jae

2017-06-01

A hyperosmolar hyperglycemic state (HHS) is a rare presentation of a hyperglycemic crisis in children with diabetes mellitus. As this condition can be fatal and has high morbidity, early recognition and proper management are necessary for a better outcome. Here, we report a rare case of HHS as the first presentation of type 1 diabetes mellitus (T1DM) in a 7-year-old girl. The patient was admitted due to polyuria and weight loss in the past few days. The initial blood glucose level was 1167mg/dL. On the basis of clinical manifestations and laboratory results, she was diagnosed with T1DM and HHS. Treatment was started with intravenous fluid and regular insulin. She was discharged without any complications related to HHS and is being followed up in the outpatient clinic with split insulin therapy. As the incidence of T1DM is increasing, emergency physicians and pediatricians should be aware of HHS to make an early diagnosis for appropriate management, as it can be complicated in young children with T1DM.
Metastatic malignant blue nevus: a case report.

PubMed

Ozgür, F; Akyürek, M; Kayikçioğlu, A; Barişta, I; Gököz, A

1997-10-01

This report presents a 63-year-old Caucasian woman with a malignant blue nevus, which is an extremely rare form of melanoma originating from or associated with a preexisting blue nevus. The background blue nevus on the left upper arm, which had been present for 5 to 6 years, increased in size and darkened in color for 3 months prior to histological diagnosis of malignant blue nevus. Although the tumor looked much like a nodular melanoma clinically, the diagnosis of malignant blue nevus was established histologically. The patient had a poor outcome due to metastatic spread of the tumor to the visceral organs 1 year following the initial excision of the tumor. To distinguish this rare tumor from other melanocytic lesions, strict histological criteria are needed to make the diagnosis of malignant blue nevus. Differential diagnosis includes cellular blue nevus, atypical cellular blue nevus, primary malignant melanoma, and metastatic melanoma to the dermis. Malignant blue nevus is most commonly seen on the scalp. The tumor has an aggressive behavior and metastasizes in the majority of patients. This paper describes the second reported case of malignant blue nevus involving the upper arm. Clinical and histological features of this uncommon tumor are presented, along with a review of the literature.
Two cases of dengue meningitis: a rare first presentation.

PubMed

Goswami, Rudra Prosad; Mukherjee, Arindam; Biswas, Tapan; Karmakar, Partha Sarathi; Ghosh, Alakendu

2012-02-13

Dengue, a mosquito-borne disease caused by a flavivirus, is recognized in over 120 countries with 3.6 billion people living in areas at risk. Neurological manifestations are infrequently reported as clinical consequences of dengue infection. Though severe dengue may be associated with meningoencephalitis, meningitis is a rare initial presentation of otherwise uncomplicated dengue fever. We report two adult patients who presented with fever, headache, and nuchal rigidity without the typical symptoms of dengue infection. Cerebrospinal fluid (CSF) analysis showed lymphocytic pleocytosis in one and slight neutrophilic pleocytosis in the other with a normal glucose value and negative bacterial cultures. Dengue was suspected because thrombocytopenia was symptomatic in one patient and documented during the hospital course, and was confirmed by demonstration of IgM antibody in the cerebrospinal fluid samples specific for dengue in both cases. Our report demonstrates that meningitis with or without encephalitis can be the first manifestation of dengue infection. In endemic areas, dengue infection should be considered as a probable etiological agent of meningitis. Regular monitoring of platelet count can be an invaluable diagnostic screening tool. In appropriate clinical settings detection of anti-dengue IgM both in serum and in CSF may lead to correct diagnosis.
An unusual cause of ankle pain: fracture of a talocalcaneal coalition as a differential diagnosis in an acute ankle sprain: a case report and literature review

PubMed Central

2013-01-01

Background The acute ankle sprain is one of the most common injuries seen in trauma departments. Ankle sprains have an incidence of about one injury per 10 000 people a day. In contrast tarsal coalition is a rare condition occurring in not more than one percent of the population. Case presentation We present the case of a 23 year old male patient with pain and local swelling after an acute ankle sprain. Initial clinical and radiological examination showed no pathologies. Due to prolonged pain, swelling and the inability of the patient to weight bear one week after trauma further diagnostics was performed. Imaging studies (MRI and CT) revealed a fracture of a talocalcaneal coalition. To the knowledge of the authors no fracture of a coalition was reported so far. Conclusion This report highlights the presentation of symptomatic coalitions following trauma and furthermore, it points out the difficulties in the diagnosis and treatment of a rare entity after a common injury. A diagnostic algorithm has been developed to ensure not to miss a severe injury. PMID:23530869
Niemann–Pick type C disease – the tip of the iceberg? A review of neuropsychiatric presentation, diagnosis and treatment

PubMed Central

Evans, William R. H.; Hendriksz, Chris J.

2017-01-01

Niemann–Pick type C (NP-C) disease is a rare neurodegenerative lysosomal storage disorder. It is highly heterogeneous, and there is limited awareness of a substantial subgroup that has an attenuated adolescent/adult-onset disease. In these patients psychiatric features, often a psychosis, may dominate the initial impression, although often there is an associated ataxia and cognitive impairment. Typically, patients experience a substantial diagnostic delay. In this review we highlight the importance of early recognition and discuss the pathophysiology, neuropsychiatric presentation and recent changes in the investigation and work-up of these patients, and treatment options. PMID:28400970
Delayed massive hemothorax complicating simple rib fracture associated with diaphragmatic injury.

PubMed

Chen, Chin-Li; Cheng, Yeung-Leung

2014-07-01

Traumatic hemothorax is potentially life threatening. Rib fractures are the commonest injury after chest trauma, which accounts for 10% of patients after trauma. A delayed massive hemothorax after simple rib fracture is rare. The possibility of delayed sequelae after chest trauma should be considered, and patients should be informed of this possibility. We present a case of this uncommon situation with delayed massive hemothorax caused by simple fracture of the lower ribs. Admission should be considered for close observation when presenting with fracture of the lower ribs because of the possibility of diaphragmatic injury or intra-abdominal injury, even if a simple rib fracture is found initially.
Omental fibromatosis treated by laparoscopic wide surgical resection

PubMed Central

Martin, David; Muradbegovic, Mirza; Andrejevic-Blant, Snezana; Petermann, David; Di Mare, Luca

2018-01-01

Summary The current report presents a case of an omental fibromatosis discovered incidentally in a 46-year-old woman with no particular medical history and few symptoms. A surgical biopsy was performed initially, and microscopic examination revealed myofibroblastic proliferation. After additional immunohistochemical and molecular analyses, omental fibromatosis was diagnosed. Omental fibromatosis, also called intra-abdominal desmoid, is a rare and benign tumour but can be locally aggressive. Majority of cases are asymptomatic, and difficult to diagnose based on clinical presentation and radiological investigation. Final diagnosis is usually made on histopathology and immunohistochemistry studies. Surgical wide excision is currently the treatment of choice. PMID:29552447
Delayed allergic dermatitis presenting as a keloid-like reaction caused by sting from an Indo-Pacific Portuguese man-o'-war (Physalia utriculus).

PubMed

Guevara, B E K; Dayrit, J F; Haddad, V

2017-03-01

Cnidarian envenomations are common occurrences in the tropics that can affect holidaymakers. The cutaneous reactions are classified as immediate or delayed types. Delayed allergic reactions are persistently recurring dermatitis, which can occur within 1-4 weeks from the initial sting, and may last for several months. Hypertrophic scar-like or keloid-like reactions are rare, and are believed to be a type IV hypersensitivity reaction to sequestered antigens from stinging filaments. We report an unusual case of delayed allergic dermatitis with keloid-like presentation caused by Physalia utriculus. © 2017 British Association of Dermatologists.
Hypertriglyceridaemia-induced pancreatitis

PubMed Central

Weston, Natasha; Fernando, Upul; Baskar, Varadarajan

2013-01-01

Hypertriglyceridaemia is the third most common cause of acute pancreatitis but is relatively rare and therefore requires a high level of clinical suspicion to be diagnosed. We discuss the case of a 46-year-old man who initially presented to the accident and emergency department with suspected first presentation of diabetic ketoacidosis (DKA) and a normal amylase but who did not respond to DKA treatment. Further history revealed significant cardiovascular risk factors, examination showed an evidence of hyperlipidaemia and investigations revealed acute pancreatitis secondary to hypertriglyceridaemia. We discuss the causes of hypertriglyceridaemia, the difficulty in differentiating primary versus secondary hypertriglyceridaemia, possible pathogenesis and current evidence-based treatments. PMID:23446049
Hand-foot syndrome in a patient with metastatic lung adenocarcinoma induced by high-dose icotinib: A case report and review of the literature.

PubMed

Zheng, Yulong; Fang, Weijia; Xu, Nong

2012-12-01

Icotinib is a new oral epidermal growth factor tyrosine kinase inhibitor (EGFR-TKI). The most frequent side-effects of icotinib include rash and diarrhea. Hand-foot syndrome (HFS) induced by EGFR-TKI is rare. The present study describes, for the first time, HFS induced by high-dose icotinib in a 65-year old female with metastatic lung adenocarcinoma. The patient developed HFS during the first week of icotinib treatment with characteristic clinical presentation. HFS regressed after icotinib dose-reduction was initiated. HFS may occur with icotinib, especially when administered in high doses.
Infrarenal Abdominal Aortic Pseudoaneurysm: Is It a Real Emergency?

PubMed Central

Massara, Mafalda; Prunella, Roberto; Gerardi, Pasquale; Lillo, Antonio; De Caridi, Giovanni; Serra, Raffaele; Notarstefano, Stefano; Impedovo, Giovanni

2017-01-01

Abdominal aortic pseudoaneurysm is a rare but life-threatening condition that occurs due to penetrating or blunt trauma. Clinical manifestations are variable, and the time interval from the initial trauma to diagnosis is variable. A prompt diagnosis and an aggressive management approach are required to avoid catastrophic complications. Possible treatment options are open surgical repair, endovascular repair, pseudoanerysmal sac thrombosis induction through direct thrombin injection, and coil embolization. Here, we present the case of a 75-year-old man affected by an infrarenal abdominal aortic pseudoaneurysm presenting with abdominal and lumbar pain for 3 days, who was successfully treated with an endograft. PMID:29515707
A case of unilateral phthiriasis palpebrarum infestation involving the left eye.

PubMed

Ashraf, Mohammad; Waris, Abdul; Kumar, Ashwini; Akhtar, Nahid

2014-06-06

Phthiriasis palpebrarum is a rare cause of eyelid infestation. We report a case of unilateral phthiriasis palpebrarum. A 28-year-old man presented with moderate itching associated with lacrimation and irritation in the left eye. The initial evaluation of the patient revealed multiple white dots on the left upper eyelashes. Slit-lamp examination revealed multiple nits attached to the base and shaft of the cilia. There was no hyperaemia or discharge present in the conjunctiva and the cornea was clear and shiny. The right eye was perfectly normal. The patient was treated with moxifloxacin eye ointment and was completely cured in 1 week. 2014 BMJ Publishing Group Ltd.
Solitary breast mass as initial presentation of clinically silent metastatic renal cell carcinoma.

PubMed

McLauglin, Sarah A; Thiel, David D; Smith, Stephen L; Wehle, Michael J; Menke, David M

2006-06-01

Metastasis to the breast from extramammary tumors is rare. Breast metastases of renal cell carcinoma (RCC) origin have been described in sporadic case reports. We present a patient with a solitary breast mass representing the manifestation of clinically silent, metastatic RCC. A 76-year-old female was 12 years prior removed from radical nephrectomy for localized RCC. Her new breast mass was identified on physical examination. Pathology of the resected mass was diagnostic of metastatic RCC and subsequent imaging studies demonstrated a 1.9 cm renal mass in her solitary kidney. The patient elected subcutaneous Interleukin-2 immunotherapy as primary treatment for her recurrent RCC.
Childhood disintegrative disorder with seasonal total mutism: A rare clinical presentation

PubMed Central

Shirazi, Elham; Hosseinpoor, Sara; Mirhosseini, Seyyed Mohammad Mahdy; Bidaki, Reza

2016-01-01

Childhood disintegrative disorder (CDD) is a rare autistic-like clinical condition with unknown etiology, in that previously acquired age-appropriate language, social and adaptive abilities deteriorate significantly in 2-10-year-old healthy children, although physical and neurological evaluations display no observable abnormality. Our case is a 22-year-old female born of a consanguineous marriage, with the appearance of CDD symptoms in her fifth year of age following normal mental and physical development during her initial four years of life. Without any precipitating factor, she gradually lost her language abilities, social relational skills, affectionate behavior, adaptive capacities, peer play and meaningful interest in her surrounding, friends and family members over a period of 4 years, reaching a plateau in her ninth year of age. The unique special clinical symptom in this case is a seasonal total mutism, which after the beginning of her CDD symptoms is revealing every year covering the spring. As no additional physical or psychological change accompanies her total seasonal speech loss, it cannot be attributed to any mental condition known as having a seasonal pattern. Because in the literature CDD is presented mostly as case reports with lacking of advanced research data, describing any new case is recommended to improve the knowledge about this rare condition, especially if it displays some new unusual signs, not reported till now. PMID:27069898
Burkitt’s Lymphoma of the Rectosigmoid and Stomach Presenting as Hematochezia

PubMed Central

Bustamante-Bernal, Marco; Galvis, Juan; Matos, Dubier; Sosa, Omar; Syed, Saad H.; Padilla, Osvaldo; Davis, Brian; Zuckerman, Marc J.

2016-01-01

Patient: Female, 51 Final Diagnosis: Burkitt’s lymphoma of the rectum and stomach Symptoms: Hematochezia Medication: — Clinical Procedure: EGD and colonoscopy Specialty: Gastroenterology and Hepatology Objective: Rare disease Background: Burkitt’s lymphoma (BL) is an uncommon cause of non-Hodgkin lymphoma in adults and accounts for only 0.1–0.5% of all malignant tumors of the colon and rectum. Very few cases of rectosigmoid and stomach BL have been reported in adults. Case Report: A 51-year-old Hispanic woman presented with a 1-month history of hematochezia, associated with a foreign-body sensation in the rectum and 7 kg weight loss. Initial laboratory workup showed normocytic anemia and positive fecal occult blood. Computed tomography of the abdomen revealed an asymmetric appearance of the stomach and pylorus with nodularity of the mucosa and thickening of the posterior wall, and a 10.8-cm rectal mass. Esophagogastroduodenoscopy and colonoscopy were performed and biopsies of the stomach and rectum were obtained; histopathology demonstrated involvement by Burkitt’s lymphoma in the gastric body nodule and rectal mass. After 4 cycles of chemotherapy, a follow-up abdominal CT demonstrated complete resolution of the mural thickening of the rectum and no intra-abdominal lymphadenopathy. Conclusions: Our case illustrates the importance of considering BL in the extensive differential diagnosis of rectal bleeding, change in bowel habits, and other lower and upper GI symptoms, since the rapidly growing nature of this rare malignancy requires a prompt diagnosis and initiation of appropriate therapy. PMID:26876112
A case of type F botulism in southern California.

PubMed

Richardson, William H; Frei, Shermane S; Williams, Saralyn R

2004-01-01

Botulism caused by type F botulinum toxin accounts for less than 0.1% of all human botulism cases and is rarely reported in the literature. A 45-year-old woman presented to an emergency department complaining of blurred vision, difficulty focusing, and dysphagia. The treating physician initially considered the possibility of paralytic shellfish poisoning due to a report of shellfish ingestion, which was later determined to be frozen shrimp and a can of tuna, but no gastroenteritis or paresthesias were present. During the emergency department observation, the patient developed respiratory distress with hypercapnea and required intubation and mechanical ventilation. Within hours, ptosis, mydriasis, and weakness in the arms and legs developed. Bivalent (A, B) botulinum antitoxin was administered approximately 24 h from the onset of initial symptoms, but over the next two days complete paralysis progressed to the upper and lower extremities. Shortly thereafter a stool toxin assay demonstrated the presence of type F botulinum toxin. The patient subsequently received an experimental heptavalent botulinum antitoxin on hospital day 7 but paralysis was already complete. Her three-week hospital course was complicated by nosocomial pneumonia and a urinary tract infection, but she gradually improved and was discharged to a rehabilitation facility. Anaerobic cultures and toxin assays have yet to elucidate the source of exposure. We report a rare case of type F botulism believed to be foodborne in etiology. Administration of bivalent botulinum antitoxin did not halt progression of paralysis.
Tentorial dural arteriovenous fistula presenting as myelopathy: Case series and review of literature

PubMed Central

Gross, Robert; Ali, Rushna; Kole, Max; Dorbeistein, Curtis; Jayaraman, Mahesh V; Khan, Muhib

2014-01-01

Dural arteriovenous fistula (DAVF) is a rare type of cerebral arteriovenous malformation. Common presenting symptoms are related to hemorrhage. However, rarely these patients may present with myelopathy. We present two cases of DAVF presenting as rapidly progressive myelopathy. Two treatment options are available: microsurgical interruption of the fistula and endovascular embolization. These treatment options of DAVFs have improved significantly in the last decade. The optimal treatment of DAVFs remains controversial, and there is an ongoing debate as to whether primary endovascular or primary microsurgical treatment is the optimal management for these lesions. However, despite treatment a high percentage of patients are still left with severe disability. The potential for functional ambulation in patients with DAVF is related to the time of intervention. This emphasizes the important of early diagnosis and early intervention in DAVF. The eventual outcome may depend on several factors, such as the duration of symptoms, the degree of disability before treatment, and the success of the initial procedure to close the fistula. The usage of magnetic resonance imaging and selective angiography has significantly improved the ability to characterize DAVFs, however, these lesions remain inefficiently diagnosed. If intervention is delayed even prolonged time in rehabilitation does not change the grave prognosis. This review outlines the presentation, classication and management of DAVF as well as discussing patient outcomes. PMID:25516869

Solitary extramedullary plasmacytoma of the bladder: a case report and literature.

PubMed

Khaliq, Waseem; Uzoaru, Ikechukwu; Konchanin, Ronald P; Sapiente, Ronald A; Egner, James R

2010-08-01

Plasmacytoma is a rare B-lymphocyte neoplastic disorder that usually presents as the generalized disease multiple myeloma. Less than 5% of the cases present as a solitary mass of monoclonal plasma cells in the bone or soft tissue. Although solitary extramedullary plasmacytoma (SEP) may arise in any organ, it rarely involves the urinary bladder. A 67-year-old male without a history of multiple myeloma presented with urinary frequency and nocturia; he was later diagnosed with SEP of the bladder. The patient was initially treated with a course of radiation therapy without symptomatic improvement; therefore a chemotherapy regimen consisting of lenalidomide and dexamethasone was subsequently given for six cycles. SEP usually carries a better prognosis and higher cure rate than solitary plasmacytoma of bone, as SEP is radiation sensitive. The role of adjuvant chemotherapy in the treatment of SEP that is resistant to radiation therapy is not clear, since most of the recommendations have been derived from the experience of head and neck SEP. The literature also lacks recommendations for choice of a chemotherapy regimen and surveillance of isolated bladder plasmacytoma. Here we present the first case of a radiation-resistant solitary plasmacytoma of the bladder that was successfully treated with lenalidomide and dexamethasone with successful clinical remission.
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.
Klebsiella pneumoniae necrotizing fasciitis of the leg in an elderly French woman.

PubMed

Monié, Marguerite; Drieux, Laurence; Nzili, Bernadette; Dicko, Michèle; Goursot, Catherine; Greffard, Sandrine; Decré, Dominique; Mézière, Anthony

2014-01-01

Klebsiella pneumoniae necrotizing fasciitis is a rare infection in regions outside of Asia. Here, we present a case of necrotizing fasciitis of the leg caused by K. pneumoniae in a 92-year-old French woman hospitalized in a geriatric rehabilitation unit. The patient initially presented with dermohypodermitis of the leg that developed from a dirty wound following a fall. A few hours later, this painful injury extended to the entire lower limb, with purplish discoloration of the skin, bullae, and necrosis. Septic shock rapidly appeared and the patient died 9 hours after the onset of symptoms. The patient was Caucasian, with no history of travel to Asia or any underlying disease. Computed tomography revealed no infectious metastatic loci. Blood cultures showed growth of capsular serotype K2 K. pneumoniae strains with virulence factors RmpA, yersiniabactin and aerobactin. This rare and fatal case of necrotizing fasciitis caused by a virulent strain of K. pneumoniae occurred in a hospitalized elderly woman without risk factors. Clinicians and geriatricians in particular should be aware of this important albeit unusual differential diagnosis.
Progress update on cryogenic system for ARIEL E-linac at TRIUMF

NASA Astrophysics Data System (ADS)

Koveshnikov, A.; Bylinskii, I.; Hodgson, G.; Yosifov, D.

2014-01-01

TRIUMF is involved in a major upgrade. The Advanced Rare IsotopeE Laboratory (ARIEL) has become a fully funded project in July 2010. A 10 mA 50 MeV SRF electron linac (e-linac) operating CW at 1.3 GHz is the key component of this initiative. This machine will serve as a second independent photo-fission driver for Rare Isotope Beams (RIB) production at TRIUMF's Isotope Separator and Accelerator (ISAC) facility. The cryogens delivery system requirements are driven by the electron accelerator cryomodule design [1, 2]. Since commencement of the project in 2010 the cryogenic system of e-linac has moved from the conceptual design phase into engineering design and procurement stage. The present document summarizes the progress in cryogenic system development and construction. Current status of e-linac cryogenic system including details of LN2 storage and delivery systems, and helium subatmospheric (SA) system is presented. The first phase of e-linac consisting of two cryomodules, cryogens storage, delivery, and distribution systems, and a 600 W class liquid helium cryoplant is scheduled for installation and commissioning by year 2014.
Myxedema coma: A case report of pediatric emergency care.

PubMed

Zhu, Yueniu; Qiu, Wenjuan; Deng, Mengyan; Zhu, Xiaodong

2017-05-01

Myxedema coma (MC) is extremely rare but lethal in pediatric patients with hypothyroidism leading to altered mental status and hypothermia. But there is no clinical guideline for such cases. A 6-year-old Chinese girl presented with coma and hypothermia preceded by pneumonia. Her lab results were: free thyroxin (T4) 4.18 pmol/L and thyroid-stimulating hormone (TSH) > 150 μIU/mL with extremely elevated anti-thyroid peroxidase (TPO-Ab) and anti-thyroglobulin. Pneumonia, mild pleural, and pericardial effusion were seen on computed tomographic (CT) scan. MC, autoimmune hypothyroidism, pneumonia and sepsis were diagnosed. Gastric levothyroxine, intravenous dexamethasone and antibiotics were administered. Her consciousness was restored and temperature returned to normal 2 days after starting levothyroxine. She was discharged two weeks later. MC is rare but may be the initial presentation in pediatric patients with prolonged untreated hypothyroidism. Autoimmune thyroiditis could cause hypothyroidism in children. MC should be suspected in pediatric patients with altered mental status, hypothermia and cardiovascular instability. Treatment with 100 mg/m of gastric levothyroxine is an option for pediatric patients with MC.
Niemann-Pick Disease Type C Presenting as a Developmental Coordination Disorder with Bullying by Peers in a School-Age Child

PubMed Central

Suzuki, Ryo; Tanaka, Atsushi; Matsui, Toshiharu; Gunji, Tetsuki; Tohyama, Jun; Nairita, Aya; Nanba, Eiji; Ohno, Kousaku

2015-01-01

Niemann-Pick disease type C (NPC) is a rare progressive neurodegenerative disorder, often with onset after normal early childhood development. Juvenile onset NPC patients slowly develop cerebellar symptoms and cognitive impairment and often experience difficulties at school. However, these problems may be overlooked due to the unpublicized nature of NPC, given that it is a rare metabolic disorder. In this report, we present an 11-year-old male NPC patient, who suffered from clumsiness and difficulties in attention and academic and social skills. His symptoms were initially considered to be due to developmental coordination disorder (DCD) coexisting with bullying by peers. DCD is a type of neurodevelopmental disorder defined according to DSM-IV and is characterized by clumsiness that interferes with academic achievement and social integration not due to other general medical conditions. However, a detailed investigation of the patient suggested that the problems could be attributed to the onset of NPC. Clinicians should keep neurodegenerative disorders as differential diagnosis of children with multiple school problems. PMID:26788393
A Case of Recurrent Solid Pseudopapillary Tumor of the Pancreas with Involvement of the Spleen and Kidney

PubMed Central

Park, Sang Eun; Park, Nam Sook; Chun, Jae Min; Park, Nam Whan; Yang, Young Joon; Yun, Gak Won; Lee, Hyo Jin; Yun, Hwan Jung; Jo, Deog Yeon; Song, Kyu Sang

2006-01-01

Solid pseudopapillary tumor of the pancreas (SPTP) is a rare primary pancreatic tumor of an unknown etiology that is usually diagnosed in adolescent girls and young women. Most SPTPs are considered to be benign and only rarely metastasize. We report here on a 27-year old woman with recurrent SPTP with involvement of both the spleen and left kidney at the time of the initial diagnosis, and with aggressive behavior. In July 1995, she was admitted with abdominal discomfort and mass. She underwent exploratory laparotomy with distal pancrea tectomy, left nephrectomy and splenectomy, and was diagnosed with SPTP with invasion to both the spleen and left kidney. In June 2001, she again presented with abdominal pain and was diagnosed as having recurrence of the tumor. She underwent mass excision and omentectomy. Then she was lost to follow-up. In November 2005, she presented once again with an abdominal mass and was diagnosed with recurred SPTP, which formed a huge intraperitoneal mass with peritoneal seeding and the tumor showed multiple metastases in the liver. She is currently being treated conservatively. PMID:19771270
Acute myeloid leukemia with monosomy 7, ectopic virus integration site-1 overexpression and central diabetes insipidus: A case report.

PubMed

Ma, Hongbing; Yang, Jing; Xiang, Bing; Jia, Yongqian

2015-06-01

Central diabetes insipidus (DI) is a rare complication in patients with acute myeloid leukemia (AML), typically occurring in patients with abnormalities of chromosomes 3 or 7. The association between AML with monosomy 7 and DI has been described in a number of studies; however, DI has been rarely reported in cases of ectopic virus integration site-1 ( EVI1 )-positive AML with monosomy 7. The current study reports a case of AML with monosomy 7 and EVI1 overexpression, with central DI as the initial symptom. The patient was an 18-year-old female who presented with polyuria and polydipsia. Bone marrow aspiration revealed 83.5% myeloperoxidase-positive blasts without trilineage myelodysplasia. The karyotype was 45,XX,-7, and the patient presented monosomy 7 and EVI1 overexpression (- 7/EVI1 + ) without 3q aberration. Treatment with induction therapy was unsuccessful. To the best of our knowledge, this is the second case of DI-AML with - 7/EVI1 + and without a 3q aberration. The possible mechanisms associated with EVI1 , monosomy 7 and DI were investigated.
Adult Influenza A (H1N1) Related Encephalitis: A Case Report.

PubMed

Midha, Devinder; Kumar, Arun; Vasudev, Pratibha; Iqbal, Zafar Ahmad; Mandal, Amit Kumar

2018-05-01

The year 2009-2010 saw H1N1 influenza outbreaks occurring in almost all countries of the world, causing the WHO to declare it a pandemic of an alert level of 6. In India, H1N1 influenza outbreaks were again reported in late 2014 and early 2015. Since then, sporadic cases of H1N1 influenza have been reported. H1N1 influenza usually presents itself with respiratory tract symptoms. In a minority of patients, abdominal symptoms may occur as well. Acute influenza-associated encephalopathy/encephalitis mostly occurs in the pediatric population, whereas in adults, it is a rare complication. The incidence of neurological complications appears to have increased after the 2009 H1N1 influenza A virus pandemic. We would like to draw attention to an adult patient case who initially presented with respiratory symptoms but then deteriorated and developed encephalitis, which is rarely reported. As per literature reviewed by Victoria Bangualid and Judith Berger on PubMed, only 21 cases of neurological complications were found in adult influenza A patients, out of whom 8 had encephalopathy.
Niemann-Pick Disease Type C Presenting as a Developmental Coordination Disorder with Bullying by Peers in a School-Age Child.

PubMed

Suzuki, Ryo; Tanaka, Atsushi; Matsui, Toshiharu; Gunji, Tetsuki; Tohyama, Jun; Nairita, Aya; Nanba, Eiji; Ohno, Kousaku

2015-01-01

Niemann-Pick disease type C (NPC) is a rare progressive neurodegenerative disorder, often with onset after normal early childhood development. Juvenile onset NPC patients slowly develop cerebellar symptoms and cognitive impairment and often experience difficulties at school. However, these problems may be overlooked due to the unpublicized nature of NPC, given that it is a rare metabolic disorder. In this report, we present an 11-year-old male NPC patient, who suffered from clumsiness and difficulties in attention and academic and social skills. His symptoms were initially considered to be due to developmental coordination disorder (DCD) coexisting with bullying by peers. DCD is a type of neurodevelopmental disorder defined according to DSM-IV and is characterized by clumsiness that interferes with academic achievement and social integration not due to other general medical conditions. However, a detailed investigation of the patient suggested that the problems could be attributed to the onset of NPC. Clinicians should keep neurodegenerative disorders as differential diagnosis of children with multiple school problems.
78 FR 42974 - Certain Sintered Rare Earth Magnets, Methods of Making Same and Products Containing Same...

Federal Register 2010, 2011, 2012, 2013, 2014

2013-07-18

... rare earth magnets, methods of making same and products containing same by reason of infringement of..., Methods of Making Same and Products Containing Same; Commission Determination Not to Review an Initial Determination Granting an Unopposed Motion by Complainants; Termination of the Investigation AGENCY: U.S...
The NSCL electron beam ion trap for the reacceleration of rare isotopes coming to life: first extraction tests with a high-current electron gun.

PubMed

Schwarz, S; Bollen, G; Johnson, M; Kester, O; Kostin, M; Ottarson, J; Portillo, M; Wilson, C; López-Urrutia, J R Crespo; Dilling, J

2010-02-01

NSCL is currently constructing the ReA3 reaccelerator, which will accelerate rare isotopes obtained from gas stopping of fast-fragment beams to energies of up to 3 MeV/u for uranium and higher for lighter ions. A high-current charge breeder, based on an electron beam ion trap (EBIT), has been chosen as the first step in the acceleration process, as it has the potential to efficiently produce highly charged ions in a single charge state. These ions are fed into a compact linear accelerator consisting of a radio frequency quadrupole structure and superconducting cavities. The NSCL EBIT has been fully designed with most of the parts constructed. The design concept of the EBIT and results from initial commissioning tests of the electron gun and collector with a temporary 0.4 T magnet are presented.
Pseudohypoparathyroidism type 1B - a rare cause of tetany: case report.

PubMed

Garcia, Catarina; Correia, Cátia R; Lopes, Lurdes

2017-06-26

Pseudohypoparathyroidism (PHP) is a rare group of disorders characterised by end-organ resistance to the parathyroid hormone (PTH). A 16-year-old boy presented with a 2-year history of involuntary dystonic movements involving mainly the left hand, initially after writing and later during physical exercise. Serum calcium was 1.37 mmol/L (2.20-2.69), phosphate 2.1 mmol/L (0.8-1.45) and PTH 302 ng/L (12-88). CT scan of the head demonstrated multiple subcortical and diffuse basal ganglia calcifications. Genetic analysis confirmed a methylation defect in the GNAS cluster on chromosome 20q13.32 which established the diagnosis. Treatment with calcitriol and calcium carbonate led to complete remission of symptoms. Causes of hypocalcaemia should be considered in evaluating patients with movement disorders. The diagnosis of PHP-1B is challenging but the overall prognosis is excellent.
[Myxedema coma as a rare differential diagnosis of severe consciousness disturbance].

PubMed

Kollmar, R; Schellinger, P D; Bardutzky, J; Meisel, F; Schwaninger, M

2002-12-01

Myxedema coma is a rare and life-threatening complication of untreated hypothyroidism. Therefore, it must be part of the differential diagnosis in comatose patients. We report one patient who presented with CO(2) narcosis,hypothermia, bradycardia,hyporeflexia, tetraparesis, ascitis, pleural effusions, and heart insufficiency. Examination of the CSF, cranial CT, MRI, and MR angiography were normal. In suspicion of myxedema coma,the patient was treated with high dose L-thyroxine and hydrocortisone for preventing secondary adrenal insufficiency. A fast clinical recovery, decreased T4 (7.2 ng/l) and T3 (0.93 ng/l), and increased TSH (20.19 mU/l) together with the following anamnesis of radio iodine therapy and insufficient thyroxine intake confirmed the diagnosis. In conclusion, treatment of the myxedema coma must be started as soon as the laboratory results are confirmatory, since its course depends on the time of initiation of treatment.
Experimental partitioning of rare earth elements and scandium among armalcolite, ilmenite, olivine and mare basalt liquid

NASA Technical Reports Server (NTRS)

Irving, A. J.; Merrill, R. B.; Singleton, D. E.

1978-01-01

An experimental study was carried out to measure partition coefficients for two rare-earth elements (Sm and Tm) and Sc among armalcolite, ilmenite, olivine and liquid coexisting in a system modeled on high-Ti mare basalt 74275. This 'primitive' sample was chosen for study because its major and trace element chemistry as well as its equilibrium phase relations at atmospheric pressure are known from previous studies. Beta-track analytical techniques were used so that partition coefficients could be measured in an environment whose bulk trace element composition is similar to that of the natural basalt. Partition coefficients for Cr and Mn were determined in the same experiments by microprobe analysis. The only equilibrium partial melting model appears to be one in which ilmenite is initially present in the source region but is consumed by melting before segregation of the high-Ti mare basalt liquid from the residue.
Laser-induced synlabia, cryptomenorrhea, and urine retention: A case report and literature review

PubMed Central

Fadul-Elahi, Thoraya; Janjua, Nusrat Batool

2017-01-01

Cosmetic laser use has many pros and cons. The worldwide use of laser for body hair removal has led to many medical complications. Unsupervised use of the laser for hair removal in vulva may result in many problems and can merely damage the vulva, although rarely, affecting the body image. This rare and novel case report is a 21 year old virgin who presented with acute urinary retention and cryptomenorrhea due to complete synlabia secondary to unsupervised vulval laser hair removal. The urinary retention was relieved by suprapubic catheterization initially. During examination under anesthesia, the fused labia were separated by a surgical incision with drainage of hematocolpos and then, a Foley's urethral catheter was inserted. She had an uneventful recovery. We report this case to emphasize on the supervised use of laser by trained and qualified personnel for hair removal in vulva to minimize its complications. PMID:29118543
Cor triatriatum dexter: A rare cause of cyanosis during neonatal period.

PubMed

Alghamdi, Mohammed Hussien

2016-01-01

Cor-triatriatum dexter is an extremely rare congenital heart defect in which there is complete persistence of the right valve of embryonic sinus venosus that results in partitioning of the right atrium into a smooth and trabeculated portion. The smooth portion receives venous blood from inferior vena cava, superior vena cava, and coronary sinus while the trabeculated portion contains the right atrial appendage and the opening of tricuspid valve. We report a 1-week-old child who presented with intermittent episodes of central cyanosis. Echocardiography, established, and bubble contrast study confirmed the diagnosis of an isolated cor-triatriatum dexter. The baby initially underwent an intervention by cardiac catheterization, which was unsuccessful in disrupting the membrane and re-direct the systemic venous flow to the right heart chambers. She subsequently had the cor-triatriatum dexter membrane resected via an uncomplicated open-heart surgery.
Severe Acute Cardiopulmonary Failure Related to Gadobutrol Magnetic Resonance Imaging Contrast Reaction: Successful Resuscitation With Extracorporeal Membrane Oxygenation.

PubMed

Guru, Pramod K; Bohman, J Kyle; Fleming, Chad J; Tan, Hon L; Sanghavi, Devang K; De Moraes, Alice Gallo; Barsness, Gregory W; Wittwer, Erica D; King, Bernard F; Arteaga, Grace M; Flick, Randall; Schears, Gregory J

2016-03-01

Nonanaphylactic noncardiogenic pulmonary edema leading to cardiorespiratory arrest related to the magnetic resonance imaging contrast agent gadobutrol has rarely been reported in the literature. Rarer is the association of hypokalemia with acidosis. We report 2 patients who had severe pulmonary edema associated with the use of gadobutrol contrast in the absence of other inciting agents or events. These cases were unique not only for their rare and severe presentations but also because they exemplified the increasing role of extracorporeal membrane oxygenation in resuscitation. Emergency extracorporeal membrane oxygenation resuscitation can be rapidly initiated and successful in the setting of a well-organized workflow, and it is a viable alternative and helps improve patient outcome in cases refractory to conventional resuscitative measures. Copyright © 2016 Mayo Foundation for Medical Education and Research. Published by Elsevier Inc. All rights reserved.
Thrombotic thrombocytopenic purpura or immune thrombocytopenia in a sickle cell/β+-thalassemia patient: a rare and challenging condition.

PubMed

Vlachaki, Efthymia; Agapidou, Aleka; Neokleous, Nikolaos; Adamidou, Despoina; Vetsiou, Evaggelia; Boura, Panagiota

2014-10-01

The diagnosis of thrombotic thrombocytopenic purpura is one of the possible diagnosis when a patient is admitted with unexpected micro-angiopathic hemolytic anemia and thrombocytopenia. The combination of sickle cell/β(+)-thalassemia and thrombotic thrombocytopenic purpura is rare and triggering. This article describes the poor outcome of a patient with sickle cell/β(+)-thalassemia presenting with gingival bleeding, severe thrombocytopenia and anemia. The patient had normal renal function, no neurological deficit and he was initially treated as immune thrombocytopenic purpura. He eventually died due to multi-organ failure and brain hemorrhage even though he had started plasma exchange sessions. The co-existence of thrombotic thrombocytopenic purpura and sickle cell anemia is making the diagnosis of the former difficult. Early and rapid intervention is critical to the outcome. Copyright © 2014 Elsevier Ltd. All rights reserved.
A rare variant of internal anatomy of a third mandibular molar: a case report.

PubMed

Nimigean, V; Nimigean, Vanda Roxana; Sălăvăstru, D I

2011-01-01

The several anatomical variations existing in the root canal system may contribute to failure of the root canal therapy. Knowledge of the internal dental morphology is a complex and extremely important point for planning and performing endodontic therapy. This paper reports the case of a left mandibular third molar that presented only one dental conical root and only one aberrant radicular canal with an initial annular portion situated in the coronar third of the root and a linear portion at the level of the other two thirds of the dental root, which opened through an apical foramen. Root canal therapy and case management are described. Features like wide crown access, adequate illumination and use of exploring files where important for successful completion of the endodontic treatment. The treatment was performed through conventional methods. This clinical case constitutes a rare anatomical variant of internal radicular morphology.

A case of glyburide-induced leukocytoclastic vasculitis.

PubMed

Henley, Jill K; Blackmon, Joseph A; Fraga, Garth R; Rajpara, Anand; Maz, Mehrdad

2013-09-14

Medication-induced leukocytoclastic vasculitis is a small-vessel vasculitis that most commonly manifests with palpable purpuric lesions on gravity dependent areas. Development of the vasculitis occurs within weeks after the initial administration of the medication, with clearance upon withdrawal of the medication. Glyburide, a sulfonylurea medication, is used to treat non-insulin dependent diabetes mellitus. We report a rare case of glyburide-associated leukocytoclastic vasculitis. We report a 71-year-old man with type 2 diabetes mellitus who presented with palpable purpura on the lower extremities. Cutaneous biopsy revealed superficial small vessel vasculitis with IgA perivascular deposits. Further questioning revealed three prior episodes of palpable purpura after restarting the glyburide medication, with clearance upon discontinuation. We diagnosed drug-induced vasculitis related to the glyburide. This case highlights a rarely reported cutaneous adverse reaction to the commonly used diabetic medication, glyburide. Physicians should consider cutaneous vasculitis as a potential side effect of glyburide.
A Unique Fatal Moose Attack Mimicking Homicide.

PubMed

Gudmannsson, Petur; Berge, Johan; Druid, Henrik; Ericsson, Göran; Eriksson, Anders

2018-03-01

Fatalities caused by animal attacks are rare, but have the potential to mimic homicide. We present a case in which a moose attacked and killed a woman who was walking her dog in a forest. Autopsy showed widespread blunt trauma with a large laceration on one leg in which blades of grass were embedded. Flail chest was the cause of death. The case was initially conceived as homicide by means of a riding lawn mower. A review of the case by moose experts and analyses of biological trace material that proved to originate from moose, established the true source of injury. The dog probably provoked a moose, which, in response, stomped and gored the victim to death. The injuries resembled those previously reported from attacks by cattle and water buffalo. Fatal moose attacks constitute an extremely rare threat in boreal areas, but can be considered in traumatic deaths of unknown cause. © 2017 American Academy of Forensic Sciences.
[Personal genome research and neurological diseases: overview].

PubMed

Toda, Tatsushi

2013-03-01

Neurological diseases include those caused by a single defective gene,e.g., Huntington's disease, other polyglutamine diseases, and muscular dystrophies, and those that are mostly sporadic but rarely show Mendelian inheritance in some families, e.g., Alzheimer's disease, Parkinson's disease, amyotrophic lateral sclerosis, and epilepsy. The latter diseases are considered polygenic disorders. Both sporadic and Mendelian cases of these diseases are believed to share some common pathological mechanisms. Since the detection of causal genes for the Mendelian cases, studies have been initiated on disease pathology. SNPs and rare gene variants play important roles in common neurological diseases. From a technological perspective, next-generation sequencers have become widely available and have contributed to the advancement of research based on individual genome sequences (personal genome). This paper presents an overview, as well as a historical context, of the contribution of personal genome research to neurological disease studies.
Sight-threatening optic neuropathy is associated with paranasal lymphoma

PubMed Central

Hayashi, Takahiko; Watanabe, Ken; Tsuura, Yukio; Tsuji, Gengo; Koyama, Shingo; Yoshigi, Jun; Hirata, Naoko; Yamane, Shin; Iizima, Yasuhito; Toyota, Shigeo; Takeuchi, Satoshi

2010-01-01

Malignant lymphoma around the orbit is very rare. We present a rare case of optic neuropathy caused by lymphoma. A 61-year-old Japanese woman was referred to our hospital for evaluation of idiopathic optic neuropathy affecting her right eye. The patient was treated with steroid pulse therapy (methyl-predonisolone 1 g daily for 3 days) with a presumed diagnosis of idiopathic optic neuritis. After she had been switched to oral steroid therapy, endoscopic sinus surgery had been performed, which revealed diffuse large B cell lymphoma of the ethmoidal sinus. Although R-CHOP therapy was immediately started, prolonged optic nerve compression resulted in irreversible blindness. Accordingly, patients with suspected idiopathic optic neuritis should be carefully assessed when they show a poor response, and imaging of the orbits and brain should always be done for initial diagnosis because they may have compression by a tumor. PMID:20390034
Suitability of Cryopreservation for the Long‐term Storage of Rare and Endangered Plant Species: a Case History for Cosmos atrosanguineus

PubMed Central

WILKINSON, TIM; WETTEN, ANDREW; PRYCHID, CHRISSIE; FAY, MICHAEL F.

2003-01-01

The suitability of cryopreservation for the secure, long‐term storage of the rare and endangered species Cosmos atrosanguineus was investigated. Using encapsulation/dehydration of shoot tips in alginate strips, survival rates of up to 100 % and shoot regeneration of up to 35 % were achieved. Light and electron microscopy studies indicated that cellular damage to some regions of the shoot tip during the freeze/thaw procedure was high, although cell survival in and around the meristematic region allowed shoot tip regeneration. The genetic fingerprinting technique, amplified fragment length polymorphisms (AFLPs), showed that no detectable genetic variation was present between material of C. atrosanguineus at the time of initiation into tissue culture and that which had been cryopreserved, stored in liquid nitrogen for 12 months and regenerated. Weaned plantlets that were grown under glasshouse conditions exhibited no morphological variation from non‐frozen controls. PMID:12495921
Towards the automated generation of expert profiles for rare diseases through bibliometric analysis.

PubMed

Pflugrad, Andreas; Jurkat-Rott, Karin; Lehmann-Horn, Frank; Bernauer, Jochen

2014-01-01

For patients suffering from rare diseases it is often hard to find an expert clinician. Existing registries rely on manual registration procedures and cannot easily be kept up to date. A prototype data collection system for discovering experts on rare diseases using MEDLINE has been successfully deployed. Initial manual analyses demonstrate proof of concept and deliver promising results. Examining the associations between authors, diseases and MeSH-Terms is expected to open up a variety of possibilities beyond expert discovery.
[Leaching of Rare Earth Elements from Coal Ashes Using Acidophilic Chemolithotrophic Microbial Communities].

PubMed

Muravyov, M I; Bulaev, A G; Melamud, V S; Kondrat'eva, T F

2015-01-01

A method for leaching rare earth elements from coal ash in the presence of elemental sulfur using communities of acidophilic chemolithotrophic microorganisms was proposed. The optimal parameters determined for rare element leaching in reactors were as follows: temperature, 45 degrees C; initial pH, 2.0; pulp density, 10%; and the coal ash to elemental sulfur ratio, 10 : 1. After ten days of leaching, 52.0, 52.6, and 59.5% of scandium, yttrium, and lanthanum, respectively, were recovered.
Different Backgrounds--Different Priorities? Student Perceptions of a Technology Initiative

ERIC Educational Resources Information Center

Eriksson, Miikka J.; Vuojärvi, Hanna

2014-01-01

A multitude of studies has assessed the success of different technology initiatives but rarely has the focus been on special groups. This paper examines whether university students with children and those without have different perceptions of a technology initiative where students were able to acquire university sponsored laptops and were provided…
A sex-specific association of common variants of neuroligin genes (NLGN3 and NLGN4X) with autism spectrum disorders in a Chinese Han cohort

PubMed Central

2011-01-01

Background Synaptic genes, NLGN3 and NLGN4X, two homologous members of the neuroligin family, have been supposed as predisposition loci for autism spectrum disorders (ASDs), and defects of these two genes have been identified in a small fraction of individuals with ASDs. But no such rare variant in these two genes has as yet been adequately replicated in Chinese population and no common variant has been further investigated to be associated with ASDs. Methods 7 known ASDs-related rare variants in NLGN3 and NLGN4X genes were screened for replication of the initial findings and 12 intronic tagging single nucleotide polymorphisms (SNPs) were genotyped for case-control association analysis in a total of 229 ASDs cases and 184 control individuals in a Chinese Han cohort, using matrix-assisted laser desorption/ionization time-of-flight (MALDI-TOF) mass spectrometry. Results We found that a common intronic variant, SNP rs4844285 in NLGN3 gene, and a specific 3-marker haplotype XA-XG-XT (rs11795613-rs4844285-rs4844286) containing this individual SNP were associated with ASDs and showed a male bias, even after correction for multiple testing (SNP allele: P = 0.048, haplotype:P = 0.032). Simultaneously, none of these 7 known rare mutation of NLGN3 and NLGN4X genes was identified, neither in our patients with ASDs nor controls, giving further evidence that these known rare variants might be not enriched in Chinese Han cohort. Conclusion The present study provides initial evidence that a common variant in NLGN3 gene may play a role in the etiology of ASDs among affected males in Chinese Han population, and further supports the hypothesis that defect of synapse might involvement in the pathophysiology of ASDs. PMID:21569590
Resources, challenges and way forward in rare mitochondrial diseases research.

PubMed

Rajput, Neeraj Kumar; Singh, Vipin; Bhardwaj, Anshu

2015-01-01

Over 300 million people are affected by about 7000 rare diseases globally. There are tremendous resource limitations and challenges in driving research and drug development for rare diseases. Hence, innovative approaches are needed to identify potential solutions. This review focuses on the resources developed over the past years for analysis of genome data towards understanding disease biology especially in the context of mitochondrial diseases, given that mitochondria are central to major cellular pathways and their dysfunction leads to a broad spectrum of diseases. Platforms for collaboration of research groups, clinicians and patients and the advantages of community collaborative efforts in addressing rare diseases are also discussed. The review also describes crowdsourcing and crowdfunding efforts in rare diseases research and how the upcoming initiatives for understanding disease biology including analyses of large number of genomes are also applicable to rare diseases.
Emerging and Mechanism-Based Therapies for Recurrent or Metastatic Merkel Cell Carcinoma

PubMed Central

Miller, Natalie J.; Bhatia, Shailender; Parvathaneni, Upendra; Iyer, Jayasri G.; Nghiem, Paul

2013-01-01

Opinion statement Merkel cell carcinoma (MCC) is a rare but aggressive neuroendocrine skin cancer with a disease-specific mortality of approximately 40 %. The association of MCC with a recently discovered polyomavirus, combined with the increased incidence and mortality of MCC among immunocompromised patients, highlight the importance of the immune system in controlling this cancer. Initial management of MCC is summarized within the NCCN guidelines and in recently published reviews. The high rate of recurrent and metastatic disease progression in MCC, however, presents a major challenge in a cancer that lacks mechanism-based, disease-specific therapies. Traditional treatment approaches have focused on cytotoxic chemotherapy that, despite frequent initial efficacy, rarely provides durable responses and has high morbidity among the elderly. In addition, the immunosuppressive nature of chemotherapy is of concern when treating a virus-associated cancer for which survival is unusually tightly linked to immune function. With a median survival of 9.6 months after development of an initial metastasis (n=179, described herein), and no FDA-approved agents for this cancer, there is an urgent need for more effective treatments. We review diverse management options for patients with advanced MCC, with a focus on emerging and mechanism-based therapies, some of which specifically target persistently expressed viral antigens. These treatments include single-dose radiation and novel immunotherapies, some of which are in clinical trials. Due to their encouraging efficacy, low toxicity, and lack of immune suppression, these therapies may offer viable alternatives to traditional cytotoxic chemotherapy. PMID:23436166
A patient with Bartter syndrome accompanying severe growth hormone deficiency and focal segmental glomerulosclerosis.

PubMed

Akil, Ipek; Ozen, Serkan; Kandiloglu, Ali Riza; Ersoy, Betul

2010-06-01

Bartter syndrome is a rare autosomal recessive, salt-losing disorder characterized by hypokalemic hypochloremic metabolic alkalosis. A 10-year-old boy had severe growth retardation (height standard deviation score -8.15). He had a thin, triangular face, prominent ears and forehead, and big eyes. Megacystis, bilateral hydroureteronephrosis, and residual urine were detected in ultrasonography, but there was no vesicoureteral reflux. Lumbosacral magnetic resonance (MR) showed posterior disc bulging at L4-5. Serum sodium and chloride levels were normal, but mild hypokalemia was overlooked initially. During follow-up, hypokalemic hypochloremic metabolic alkalosis developed, with high urinary chloride and potassium excretion (52 and 43 mEq/L, respectively). The patient, with renal salt loss, was thought to have classic Bartter syndrome due to absence of nephrocalcinosis, presence of persistent hypercalciuria and sensorineural deafness, and presence of relatively mild clinical and laboratory findings, except polyuria initially. The child was treated with indomethacin, spironolactone, and oral potassium in addition to growth hormone (GH). During treatment, he had considerable increase in weight and height compared with the period of GH therapy only. We present this case because, although growth retardation is a major feature of Bartter syndrome, associated GH deficiency is rarely reported in the literature. Diagnosis of Bartter syndrome was made later, as our patient was followed for megacystis and megaureter secondary to the neurogenic bladder and GH deficiency initially; and proteinuria associated with focal segmental glomerulosclerosis responded to treatment for Bartter syndrome.
Sexual initiation, contraceptive use, and pregnancy among young adolescents.

PubMed

Finer, Lawrence B; Philbin, Jesse M

2013-05-01

To present new data on sexual initiation, contraceptive use, and pregnancy among US adolescents aged 10 to 19, and to compare the youngest adolescents' behaviors with those of older adolescents. Using nationally representative data from several rounds of the National Survey of Family Growth, we performed event history (ie, survival) analyses to examine timing of sexual initiation and contraceptive use. We calculated adolescent pregnancy rates by single year of age using data from the National Center for Health Statistics, the Guttmacher Institute, and the US Census Bureau. Sexual activity is and has long been rare among those 12 and younger; most is nonconsensual. By contrast, most older teens (aged 17-19) are sexually active. Approximately 30% of those aged 15 to 16 have had sex. Pregnancy rates among the youngest teens are exceedingly low, for example, ∼1 per 10 000 girls aged 12. Contraceptive uptake among girls as young as 15 is similar to that of their older counterparts, whereas girls who start having sex at 14 or younger are less likely to have used a method at first sex and take longer to begin using contraception. Sexual activity and pregnancy are rare among the youngest adolescents, whose behavior represents a different public health concern than the broader issue of pregnancies to older teens. Health professionals can improve outcomes for teenagers by recognizing the higher likelihood of nonconsensual sex among younger teens and by teaching and making contraceptive methods available to teen patients before they become sexually active.
Systemic lupus erythematosus with initial presentation of empyematous pleural effusion in an elderly male patient: a diagnostic challenge.

PubMed

Chang, Wei-Ting; Hsieh, Tung-Han; Liu, Ming-Fei

2013-04-01

Systemic lupus erythematosus (SLE) poses great difficulty in making an early diagnosis in elderly males, often presenting with atypical manifestations. Acute onset of empyematous pleural effusion has rarely been seen. Herein, we report a 66-year-old man with SLE presenting with rapid progression of bilateral pleural effusion. Diagnostic thoracocentesis disclosed neutrophil-predominant exudates and chest computed tomography revealed multiple loculated pleural effusions. Nevertheless, optimal antibiotic therapy plus surgical decortication of the pleura did not improve his condition. The diagnosis of SLE was readily established after LE cells were accidentally found in the pleural effusion. Large amounts of pleural effusion subsided soon after high dose corticosteroid therapy. Copyright © 2011. Published by Elsevier B.V.
Hodgkin's lymphoma presents as an inguinal abscess: a case report and literature review

PubMed Central

Telfah, Muwaffaq Mezeil

2012-01-01

Lymphadenitis with suppuration is a rare presentation of Hodgkin's lymphoma with few cases reported in the literature. We report two cases of Hodgkin's lymphoma in two male members of the same family. They presented initially with clinical features suggesting infective inguinal lymphadenitis and then the picture was indistinguishable from inguinal abscess. The diagnosis was made after drainage of the pus and excision of the involved lymph node. The histopathology of the excised lymph node showed Hodgkin's lymphoma—nodular sclerosis for both brothers. After careful staging of both patients, the disease found to be localised to the inguinal group of lymph nodes. The patients referred to the haematologist for chemotherapy and they recovered after treatment. PMID:23001092
Coexistence of translocation(1,19) and the Philadelphia chromosome in a child's first presentation of chronic myeloid leukemia in blast crisis treated with dasatinib.

PubMed

Eckardt, Mark A; Chang, Vivian Y; Rao, Nagesh P; Federman, Noah

2011-11-01

Chronic myelogenous leukemia (CML) constitutes less than 5% of childhood leukemias. The authors describe a rare case of a 14-year-old boy who presented with CML in blast crisis. Unique to this patient was the evidence of both breakpoint cluster region-c-abl oncogene 1 (BCR-ABL1) fusions as well as an additional unbalanced t(1;19) translocation. This combination has not previously been reported in the same patient. Initial treatment with dasatinib achieved a complete cytogenetic response within 2 months of therapy. This case highlights the heterogeneous presentation of CML in children and rationale for use of dasatinib as a first-line agent for patients with blast crisis.
Central nervous system lymphoma presenting as trigeminal neuralgia: A diagnostic challenge

PubMed Central

Ang, Jensen W. J.; Khanna, Arjun; Walcott, Brian P.; Kahle, Kristopher T.; Eskandar, Emad N.

2015-01-01

We describe an atypical man with diffuse large B cell lymphoma localized to the sphenoid wing and adjacent cavernous sinus, initially presenting with isolated ipsilateral facial pain mimicking trigeminal neuralgia due to invasion of Meckel’s cave but subsequently progressing to intra-axial extension and having synchronous features of systemic lymphoma. Primary central nervous system lymphoma is uncommon, accounting for approximately 2% of all primary intra-cranial tumors, but its incidence has been steadily increasing in some groups [1]. It usually arises in periventricular cerebral white matter, reports of lymphoma in extra-axial regions are rare [2]. This man highlights the importance of maintaining lymphoma in the differential diagnosis of tumors of the skull base presenting with trigeminal neuralgia-like symptoms. PMID:25865026
Sequential Use of Second-Generation Tyrosine Kinase Inhibitor Treatment and Intensive Chemotherapy Induced Long-Term Complete Molecular Response in Imatinib-Resistant CML Patient Presenting as a Myeloid Blast Crisis

PubMed Central

Uchiyama, Tatsuki; Mizumoto, Chisaki; Takeoka, Tomoharu; Tomo, Kenjiro; Ohno, Tatsuharu

2017-01-01

Myeloid blast crisis of chronic myeloid leukemia (CML-MBC) is rarely seen at presentation and has a poor prognosis. There is no standard therapy for CML-MBC. It is often difficult to distinguish CML-MBC from acute myeloid leukemia expressing the Philadelphia chromosome (Ph+ AML). We present a case in which CML-MBC was seen at the initial presentation in a 75-year-old male. He was treated with conventional AML-directed chemotherapy followed by imatinib mesylate monotherapy, which failed to induce response. However, he achieved long-term complete molecular response after combination therapy involving dasatinib, a second-generation tyrosine kinase inhibitor, and conventional chemotherapy. PMID:29391957
Hydroa vacciniforme-like lymphoma with primarily periorbital swelling: 7 cases of an atypical clinical manifestation of this rare cutaneous T-cell lymphoma.

PubMed

Plaza, Jose A; Sangueza, Martin

2015-01-01

Hydroa vacciniforme-like lymphoma (HVL) is a rare cutaneous T-cell lymphoma that is usually seen in children of Hispanic or Asian origin. Association between chronic latent Epstein-Barr virus infection in both hydroa vacciniforme (HV) and HVL has been demonstrated and has recently been categorized by the World Health Organization as one of the Epstein Barr virus-positive lymphoproliferative disorders of childhood. Patients with HVL present with a cutaneous rash characterized by edema, blisters, ulcers, and scars mainly seen on the face and extremities that mimic HV; however, unlike in HV, the lesions tend to be extensive and deeper and are associated with severe scarring, necrosis, and systemic manifestations. We are reporting 7 cases of an unusual clinical variant of HVL with primarily periorbital edema. All of our patients in this series presented with progressive periorbital edema that was accompanied with systemic symptoms including fever, malaise, and lymphadenopathy. Most cases were initially misinterpreted as inflammatory processes including cellulitis, arthropod bite reactions, and periorbital lupus erythematosus. The biopsy of these lesions revealed an atypical lymphocytic infiltrate predominantly distributed in the deep dermis and in subcutaneous fat. Immunohistochemistry studies revealed a cytotoxic T-cell (CD8) profile. All cases were associated with Epstein-Barr virus infection. Our study presents a rare clinical variant of HVL with predominant periorbital edema. This variant could potentially be overlooked and misdiagnosed as an inflammatory condition; thus, it needs to be included in the differential diagnosis of periorbital edema in young patients.
A clinical research integration special program (CRISP) for young women with primary ovarian insufficiency

PubMed Central

FALORNI, A.; MINARELLI, V.; EADS, C. M.; JOACHIM, C. M.; PERSANI, L.; ROSSETTI, R.; BEIM, P. YURTTAS; PELLEGRINI, V. A.; SCHNATZ, P. F.; RAFIQUE, S.; KISSELL, K.; CALIS, K. A.; POPAT, V.; NELSON, L. M.

2015-01-01

Large-scale medical sequencing provides a focal point around which to reorganize health care and health care research. Mobile health (mHealth) is also currently undergoing explosive growth and could be another innovation that will change the face of future health care. We are employing primary ovarian insufficiency (POI) as a model rare condition to explore the intersection of these potentials. As both sequencing capabilities and our ability to intepret this information improve, sequencing for medical purposes will play an increasing role in health care beyond basic research: it will help guide the delivery of care to patients. POI is a serious chronic disorder and syndrome characterized by hypergonadotrophic hypogonadism before the age of 40 years and most commonly presents with amenorrhea. It may have adverse health effects that become fully evident years after the initial diagnosis. The condition is most commonly viewed as one of infertility, however, it may also be associated with adverse long-term outcomes related to inadequate bone mineral density, increased risk of cardiovascular disease, adrenal insufficiency, hypothyroidism and, if pregnancy ensues, having a child with Fragile X Syndrome. There may also be adverse outcomes related to increased rates of anxiety and depression. POI is also a rare disease, and accordingly, presents special challenges. Too often advances in research are not effectively integrated into community care at the point of service for those with rare diseases. There is a need to connect community health providers in real time with investigators who have the requisite knowledge and expertise to help manage the rare disease and to conduct ongoing research. Here we review the pathophysiology and management of POI and propose the development of an international Clinical Research Integration Special Program (CRISP) for the condition. PMID:25288327

Aggregatibacter aphrophilus pacemaker endocarditis: a case report.

PubMed

Patel, Sahil R; Patel, Nishi H; Borah, Amit; Saltzman, Heath

2014-12-08

Aggregatibacter bacteria are a rare cause of endocarditis in adults. They are part of a group of organisms known as HACEK--Haemophilus, Aggregatibacter, Cardiobacter, Eikenella, and Kingella. Among these organisms, several Haemophilus species have been reclassified under the genus Aggregatibacter. Very few cases of Aggregatibacter endocarditis in patients with pacemaker devices have been reported. We present here what we believe to be the first case of Aggregatibacter aphrophilus pacemaker endocarditis. A 62-year-old African American male with a medical history significant for dual-chamber pacemaker placement in 1996 for complete heart block with subsequent lead manipulation in 2007, presented to his primary care doctor with fever, chills, night sweats, fatigue, and ten-pound weight loss over a four-month period. Physical examination revealed a new murmur and jugular venous distension which prompted initiation of antibiotics for suspicion of endocarditis. Both sets of initial blood cultures were positive for A. aphrophilus. Transesophageal echocardiogram revealed vegetations on the tricuspid valve and the right ventricular pacemaker lead (Figure 1). This case highlights the importance of identifying rare causes of endocarditis and recognizing that treatment may not differ from the standard treatment for typical presentations. The patient received intravenous ceftriaxone for his endocarditis for a total of six weeks. Upon device removal, temporary jugular venous pacing wires were placed. After two weeks of antibiotic treatment and no clinical deterioration, a new permanent pacemaker was placed and the patient was discharged home. This is the first case of A. aphrophilus endocarditis in a patient with a permanent pacemaker. Our patient had no obvious risk factors other than poor dentition and a history of repeated pacemaker lead manipulation. This suggests that valvulopathies secondary to repeated lead manipulation can be clinically significant factors in morbidity and mortality in this patient population.
XP11.2 translocation renal cell carcinoma: clinical experience of Taipei Veterans General Hospital.

PubMed

Hung, Chia-Chen; Pan, Chin-Chen; Lin, Chih-Chieh; Lin, Alex T L; Chen, Kuang-Kuo; Chang, Yen-Hwa

2011-11-01

Xp11.2 translocation renal cell carcinoma (RCC), a recently recognized distinct subtype of RCC, is characterized by various translocations, all involving the TFE3 transcription factor gene. These rare cancers occur predominantly in children and young adults and comprise about one-third of pediatric RCCs. In the present study, we review the clinical course of Xp11.2 translocation renal cell carcinoma in our institution. We identified eight cases with Xp11.2 translocation RCC between 2007 and 2010 from the pathological archives of the Taipei Veterans General Hospital. We retrospectively analyzed the patients' characteristics, clinical manifestations, and specific pathological features for definitive diagnosis, surgical and systemic treatment and clinical outcome of these rare cancers. Patients were aged 20 years to 49 years (mean age 28 years) with female predominance (6 females, 2 males). One patient presented with asymptomatic renal mass detected incidentally during abdominal sonography. Four patients complained of flank or abdominal pain, and the other three complained of gross hematuria at initial presentation. The mean tumor size was 9.2 cm (range, 4 cm-17 cm). Seven patients underwent radical nephrectomy for the primary tumor, while one presented with multiple metastases. All cases were confirmed by TFE3 immunohistochemistry, a sensitive and specific marker of tumors with TFE3 gene fusion, which showed positive nuclear staining. Three patients presented initially with metastatic diseases, and another three patients progressed to lung, liver and bone metastases at eight, seven and nine months postoperatively. Although RT-PCR and DNA sequencing are the final diagnoses of the molecular identity of Xp11.2 translocation RCC, experienced pathologists could confirm the histologic diagnosis based on the distinctive morphologic features with positive TFE3 immunochemical nuclear stain. Surgical resection is the only treatment. The role of systemic therapy for local recurrence and metastasis remains to be determined. Copyright © 2011. Published by Elsevier B.V.
Pearson syndrome: unique endocrine manifestations including neonatal diabetes and adrenal insufficiency.

PubMed

Williams, T B; Daniels, M; Puthenveetil, G; Chang, R; Wang, R Y; Abdenur, J E

2012-05-01

Pearson syndrome is a very rare metabolic disorder that is usually present in infancy with transfusion dependent macrocytic anemia and multiorgan involvement including exocrine pancreas, liver and renal tubular defects. The disease is secondary to a mitochondrial DNA deletion that is variable in size and location. Endocrine abnormalities can develop, but are usually not part of the initial presentation. We report two patients who presented with unusual endocrine manifestations, neonatal diabetes and adrenal insufficiency, who were both later diagnosed with Pearson syndrome. Medical records were reviewed. Confirmatory testing included: mitochondrial DNA deletion testing and sequencing of the breakpoints, muscle biopsy, and bone marrow studies. Case 1 presented with hyperglycemia requiring insulin at birth. She had several episodes of ketoacidosis triggered by stress and labile blood glucose control. Workup for genetic causes of neonatal diabetes was negative. She had transfusion dependent anemia and died at 24 months due to multisystem organ failure. Case 2 presented with adrenal insufficiency and anemia during inturcurrent illness, requiring steroid replacement since 37 months of age. He is currently 4 years old and has mild anemia. Mitochondrial DNA studies confirmed a 4.9 kb deletion in patient 1 and a 5.1 kb deletion in patient 2. The patients reported highlight the importance of considering mitochondrial DNA disorders in patients with early onset endocrine dysfunction, and expand the knowledge about this rare mitochondrial disease. Copyright © 2012 Elsevier Inc. All rights reserved.
Trace elements as quantitative probes of differentiation processes in planetary interiors

NASA Technical Reports Server (NTRS)

Drake, M. J.

1980-01-01

The characteristic trace element signature that each mineral in the source region imparts on the magma constitutes the conceptual basis for trace element modeling. It is shown that abundances of trace elements in extrusive igneous rocks may be used as petrological and geochemical probes of the source regions of the rocks if differentiation processes, partition coefficients, phase equilibria, and initial concentrations in the source region are known. Although compatible and incompatible trace elements are useful in modeling, the present review focuses primarily on examples involving the rare-earth elements.
A preterm infant with intestinal lymphangiectasia: a diagnostic dilemma.

PubMed

McDonald, Karen Q; Bears, Christina M

2009-01-01

Intestinal lymphangiectasia (IL) is a potentially fatal disorder of the lymphatic system if it is not recognized and proper treatment initiated. The disease is characterized by lymphocytopenia, peripheral edema, and hypoalbuminemia. Because IL is a rare disease, the symptoms, diagnostic workup, and treatment are unfamiliar to many clinicians. Current literature documents only a few reported cases of IL in a preterm infant. This case report of a preterm infant reviews history, symptomatology, and the diagnostic workup performed. The steps in making the diagnosis, the treatment, and the prognosis of this condition are also presented.
Addison's Disease: A Diagnostic Dilemma.

PubMed

Afroz, S; Bain, S

2017-07-01

Adrenal insufficiency is a rare disease, but is life threatening when overlooked. Addison's disease may be an acquired form of adrenal insufficiency due to the destruction or dysfunction of the adrenal cortex. It affects both glucocorticoid and mineralocorticoid function. Main presenting symptoms of Addison's disease such as fatigue, anorexia, vomiting and convulsion often mimics central nervous system (CNS) infections. We describe a case of Addison's disease who was initially misdiagnosed as a case of meningo-encephalitis subsequently renal tubular acidosis and finally Addison's disease. Addison's disease can remain unrecognized until acute crisis and sometimes it may be misdiagnosed.
Non-traumatic trans-diaphragmatic intercostal hernia and cor pulmonale in a patient with poorly controlled obstructive sleep apnoea.

PubMed

Mehdi, Syed Basharath; Madi, Salem; Sudworth, Jordan

2016-10-28

Trans-diaphragmatic intercostal hernia is a rare entity. Patient with multiple medical comorbidities, including obstructive sleep apnoea, presents with shortness of breath, leg oedema and a bulging swelling through the right chest wall. CT shows partial herniation of the right lung and liver through intercostal space and an echocardiogram reveals right heart failure. He was treated initially with continuous positive airway pressure with poor response and subsequently treated with adaptive servo ventilation with much better symptomatic relief and treatment tolerance. 2016 BMJ Publishing Group Ltd.
Primary Mural Endocarditis Without Valvular Involvement.

PubMed

Tahara, Mai; Nagai, Tomoo; Takase, Yoshiyuki; Takiguchi, Shunichi; Tanaka, Yoshiaki; Kunihara, Takashi; Arakawa, Junko; Nakaya, Kazuhiro; Hamabe, Akira; Gatate, Youdou; Kujiraoka, Takehiko; Tabata, Hirotsugu; Katsushika, Shuichi

2017-03-01

Primary mural endocarditis is an extremely rare infection in which nonvalvular endocardial involvement is seen without any cardiac structural abnormalities such as ventricular septal defects. The rapid and precise diagnosis of this disease remains challenging. We present 2 cases (67- and 47-year-old male patients) of pathologically confirmed primary mural endocarditis that could have been detected by initial transthoracic echocardiography in the emergency department. Transthoracic echocardiography and transesophageal echocardiography play critical roles in the early recognition and confirmation of primary mural endocarditis. © 2017 by the American Institute of Ultrasound in Medicine.
Diagnostic Approaches to Metastatic Hepatocellular Carcinoma of the Orbit.

PubMed

Geske, Michael J; Bloomer, Michele M; Kersten, Robert C; Vagefi, M Reza

Orbital metastasis of hepatocellular carcinoma is exceedingly rare and caries a grave prognosis. Three cases of metastatic orbital hepatocellular carcinoma in which the primary tumor was initially unknown and the diagnostic challenges encountered are presented. With hepatocellular carcinoma, open biopsy and palliative tumor debulking has an increased bleeding risk due to the highly vascular nature of the tumor and coagulopathy associated with chronic liver disease. As an alternative, fine needle aspiration biopsy should be considered for hepatocellular carcinoma with a readily accessible mass and the availability of an experienced cytopathologist.
Unusual case of left atrial myxoma with gastroesophageal junction adenocarcinoma.

PubMed

Singh, Narinder Pal; Nagpal, Swapan Deep Singh; Goel, Arun Kumar; Dhingra, Bhupendra Kr

2018-02-01

Cardiac myxomas are rare tumors. Esophageal adenocarcinomas are common tumors of the gastrointestinal tract. Simultaneous occurrence of these tumors has not been reported. A 52-year-old gentleman presented to our hospital with dysphagia and was diagnosed with esophageal adenocarcinoma. Routine echocardiography discovered a cardiac tumor in the left atrium. The cardiac tumor was surgically removed and biopsy confirmed a myxoma. We removed the cardiac tumor as the first step and then initiated neoadjuvant chemotherapy. It is ideal to constitute a multidisciplinary team to decide on the course of treatment in such cases.
Left Ventricular Noncompaction Cardiomyopathy and Recurrent Polymorphic Ventricular Tachycardia: A Case Report and Literature Review.

PubMed

Akinseye, Oluwaseun A; Ibebuogu, Uzoma N; Jha, Sunil K

2017-01-01

Noncompaction cardiomyopathy is a rare phenotype of cardiomyopathy associated with severe cardiac arrhythmia and thromboembolic complications. A 55-year-old woman presented with frank pulmonary edema and received a diagnosis of noncompaction cardiomyopathy. Left ventricular noncompaction cardiomyopathy is increasingly being diagnosed because of advances in imaging modalities. It is important to differentiate this new phenotype of cardiomyopathy from others because its diagnosis, management, and prognosis differ. We reviewed the literature and summarized the diagnostic criteria, associated complications, initial and long-term management, and the recommendation for family screening.
The rare isotope beams production at the Texas A and M university Cyclotron Institute

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

Tabacaru, G.; May, D. P.; Chubarian, G.

2013-04-19

The Cyclotron Institute at Texas A and M initiated an upgrade project for the production of radioactive-ion beams that incorporates a light-ion guide (LIG) and a heavy-ion guide coupled (HIG) with an Electron Cyclotron Resonance Ion Source (ECRIS) constructed for charge-boosting (CB-ECRIS). This scheme is intended to produce radioactive beams suitable for injection into the K500 superconducting cyclotron. The current status of the project and details on the ion sources and devices used in the project is presented.
Shah-Waardenburg syndrome: a case highlighting the importance of a holistic approach to assessing a child.

PubMed

Patil, Amogh; Prathyusha, Lanka; Patil, Muganagowda

2017-12-22

We present the case of a 45-day-old child with the chief complaint of failure to pass stools for 10 days. After initial investigation, the patient was found to have Hirschsprung's disease. However, with further examination and analysis, the extremely rare diagnosis of type 4 Waardenburg syndrome was made (also known as Shah-Waardenburg syndrome or Waardenburg-Hirschsprung's disease). © 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.
Corpus callosum demyelination associated with acquired stuttering.

PubMed

Decker, Barbara McElwee; Guitar, Barry; Solomon, Andrew

2018-04-21

Compared with developmental stuttering, adult onset acquired stuttering is rare. However, several case reports describe acquired stuttering and an association with callosal pathology. Interestingly, these cases share a neuroanatomical localisation also demonstrated in developmental stuttering. We present a case of adult onset acquired stuttering associated with inflammatory demyelination within the corpus callosum. This patient's disfluency improved after the initiation of immunomodulatory therapy. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.
78 FR 23983 - Endangered and Threatened Wildlife and Plants; Threatened Status for Eriogonum codium

Federal Register 2010, 2011, 2012, 2013, 2014

2013-04-23

... substrates that support these and other rare endemic plants (see Species Information sections) within the... large-scale rare plant surveys on the Hanford Site that were initiated in 1994 by TNC and the DOE, as... Service 50 CFR Part 17 Endangered and Threatened Wildlife and Plants; Threatened Status for Eriogonum...
Painless thyroiditis associated to thyroid carcinoma: role of initial ultrasonography evaluation.

PubMed

Valentini, Raisa Bressan; Macedo, Bruno Mussoi de; Izquierdo, Rogério Friedrich; Meyer, Erika Laurini Souza

2016-04-01

Even though it is a rare event, most associations of thyroid carcinoma with subacute thyroiditis described in the literature are related to its granulomatous form (Quervain's thyroiditis). We present a patient with subacute lymphocytic thyroiditis (painless thyroiditis) and papillary thyroid cancer that was first suspected in an initial ultrasound evaluation. A 30-year old female patient who was referred to the emergency room due to hyperthyroidism symptoms was diagnosed with painless thyroiditis established by physical examination and laboratory findings. With the presence of a palpable painless thyroid nodule an ultrasound was prescribed and the images revealed a suspicious thyroid nodule, microcalcification focus in the heterogeneous thyroid parenquima and cervical lymphadenopathy. Fine needle aspiration biopsy was taken from this nodule; cytology was assessed for compatibility with papillary thyroid carcinoma. Postsurgical pathology evaluation showed a multicentric papillary carcinoma and lymphocytic infiltration. Subacute thyroiditis, regardless of type, may produce transitory ultrasound changes that obscure the coexistence of papillary carcinoma. Due to this, initial thyroid ultrasound evaluation should be delayed until clinical recovery. We recommended a thyroid ultrasound exam for initial evaluation of painless thyroiditis, particularly in patients with palpable thyroid nodule. Further cytological examination is recommended in cases presenting with suspect thyroid nodule and/or non-nodular hypoechoic (> 1 cm) or heterogeneous areas with microcalcification focus.
Gorham-Stout syndrome of the facial bones: a review of pathogenesis and treatment modalities and report of a case with a rare cutaneous manifestations.

PubMed

Al-Jamali, Jamil; Glaum, Ricarda; Kassem, Ahmed; Voss, Pit Jacob; Schmelzeisen, Rainer; Schön, Ralf

2012-12-01

Gorham disease is a very rare condition associated with spontaneous destruction and resorption of 1 or more bones anywhere in the body. Many authors have suggested and/or implicated trauma as the initiating factor in the majority of the reported cases. It can affect almost all bones, and a combination of bones has been reported. In the maxillofacial skeleton, the first facial case was reported by Romer in 1928. Until now, only a few cases of Gorham disease affecting the maxillofacial bones, including this case report, have been reported. We present a brief review of the pathogenesis and treatment modalities of the disease and report a very rare clinical picture of the disease affecting a young and otherwise healthy patient with massive osteolysis of the mandibular bone and extensive involvement of the mouth floor and skin of the chin, which to our knowledge, is the only case report with skin manifestation affecting the maxillofacial region. Such skin manifestations play an important role for the diagnosis and add a clue for management of such condition. Copyright © 2012 Elsevier Inc. All rights reserved.
Mumps Virus: Modification of the Identify-Isolate-Inform Tool for Frontline Healthcare Providers.

PubMed

Koenig, Kristi L; Shastry, Siri; Mzahim, Bandr; Almadhyan, Abdulmajeed; Burns, Michael J

2016-09-01

Mumps is a highly contagious viral infection that became rare in most industrialized countries following the introduction of measles-mumps-rubella (MMR) vaccine in 1967. The disease, however, has been re-emerging with several outbreaks over the past decade. Many clinicians have never seen a case of mumps. To assist frontline healthcare providers with detecting potential cases and initiating critical actions, investigators modified the "Identify-Isolate-Inform" tool for mumps infection. The tool is applicable to regions with rare incidences or local outbreaks, especially seen in college students, as well as globally in areas where vaccination is less common. Mumps begins with a prodrome of low-grade fever, myalgias and malaise/anorexia, followed by development of nonsuppurative parotitis, which is the pathognomonic finding associated with acute mumps infection. Orchitis and meningitis are the two most common serious complications, with hearing loss and infertility occurring rarely. Providers should consider mumps in patients with exposure to a known case or international travel to endemic regions who present with consistent signs and symptoms. If mumps is suspected, healthcare providers must immediately implement standard and droplet precautions and notify the local health department and hospital infection control personnel.
Mumps Virus: Modification of the Identify-Isolate-Inform Tool for Frontline Healthcare Providers

PubMed Central

Koenig, Kristi L.; Shastry, Siri; Mzahim, Bandr; Almadhyan, Abdulmajeed; Burns, Michael J.

2016-01-01

Mumps is a highly contagious viral infection that became rare in most industrialized countries following the introduction of measles-mumps-rubella (MMR) vaccine in 1967. The disease, however, has been re-emerging with several outbreaks over the past decade. Many clinicians have never seen a case of mumps. To assist frontline healthcare providers with detecting potential cases and initiating critical actions, investigators modified the “Identify-Isolate-Inform” tool for mumps infection. The tool is applicable to regions with rare incidences or local outbreaks, especially seen in college students, as well as globally in areas where vaccination is less common. Mumps begins with a prodrome of low-grade fever, myalgias and malaise/anorexia, followed by development of nonsuppurative parotitis, which is the pathognomonic finding associated with acute mumps infection. Orchitis and meningitis are the two most common serious complications, with hearing loss and infertility occurring rarely. Providers should consider mumps in patients with exposure to a known case or international travel to endemic regions who present with consistent signs and symptoms. If mumps is suspected, healthcare providers must immediately implement standard and droplet precautions and notify the local health department and hospital infection control personnel. PMID:27625709
Nanometric Surface Oscillation Spectroscopy of Water-Poor Microemulsions.

PubMed

Corti, Mario; Raudino, Antonio; Cantù, Laura; Theisen, Johannes; Pleines, Maximilian; Zemb, Thomas N

2018-06-18

Selectively exchanging metal complexes between emulsified water-poor microemulsions and concentrated solutions of mixed electrolytes is the core technology for strategic metal recycling. Nanostructuration triggered by solutes present in the organic phase is understood, but little is known about fluctuations of the microemulsion-water interface. We use here a modified version of an opto-electric device initially designed for air bubbles, in order to evidence resonant electrically induced surface waves of an oily droplet suspended in an aqueous phase. Resonant waves of nanometer amplitude of a millimeter-sized microemulsion droplet containing a common ion-specific extractant diluted by dodecane and suspended in a solution of rare earth nitrate are evidenced for the first time with low excitation fields (5 V/cm). From variation of the surface wave spectrum with rare earth concentration, we evidence up-take of rare-earth ions at the interface and at higher concentration the formation of a thin "crust" of liquid crystal forming at unusually low concentration, indicative of a surface induced phase transition. The effect of the liquid crystal structure on the resonance spectrum is backed up by a model, which is used to estimate crust thickness.

Some links on this page may take you to non-federal websites. Their policies may differ from this site.