Unusual tremor syndromes: know in order to recognise.

PubMed

Ure, Robert J; Dhanju, Sanveer; Lang, Anthony E; Fasano, Alfonso

2016-11-01

Tremor is a common neurological condition in clinical practice; yet, few syndromes are widely recognised and discussed in the literature. As a result, there is an overdiagnosis of well-known causes, such as essential tremor. Many important unusual syndromes should be considered in the differential diagnosis of patients with tremor. The objective of this review is to provide broad clinical information to aid in the recognition and treatment of various unusual tremor syndromes in the adult and paediatric populations. The review comprised of a comprehensive online search using PubMed, Ovid database and Google Scholar to identify the available literature for each unusual tremor syndrome. The review includes fragile X-associated tremor/ataxia syndrome, spinocerebellar ataxia type 12, tremors caused by autosomal recessive cerebellar ataxias, myorhythmia, isolated tongue tremor, Wilson's disease, slow orthostatic tremor, peripheral trauma-induced tremor, tardive tremor and rabbit syndrome, paroxysmal tremors (hereditary chin tremor, bilateral high-frequency synchronous discharges, head tremor, limb-shaking transient ischaemic attack), bobble-head doll syndrome, spasmus nutans and shuddering attacks. Rare tremors generally present with an action tremor and a variable combination of postural and kinetic components with resting tremors less frequently seen. The phenomenology of myorhythmia is still vague and a clinical definition is proposed. The recognition of these entities should facilitate the correct diagnosis and guide the physician to a prompt intervention. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.

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

PubMed

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

2009-06-01

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

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.

An unusual presentation of adult Wilms' tumor.

PubMed

Mydlo, J H; Horowitz, M; Del Rosario, C; Cosgrove, J; Macchia, R J

1996-01-01

Wilms' tumor (nephroblastoma), a primary renal neoplasm containing primitive blastema and embryonic glomerulotubular structures, is the most common malignant tumor of the urinary tract in children. There have been about 240 cases of adult Wilms' tumor reported in the world literature, however due to some differences in histologic findings, many cases have been reclassified as rhabdoid or clear cell sarcomas, both of which are recognized as separate entities. We report a case of an adult Wilms' tumor and discuss the clinical, radiographic and histologic features of this tumor.

Florid cemento osseous dysplasia in association with dentigerous cyst.

PubMed

Sanjai, Karpagaselvi; Kumarswamy, Jayalakshmi; Kumar, Vinod K; Patil, Archana

2010-07-01

We present a case of florid cemento-osseous dysplasia occurring in a 20-year-old Indian woman. The subject presented with three lesions involving the maxillary right quadrant, maxillary left quadrant and mandibular left quadrant. The mandibular left quadrant also demonstrated a cyst.The diagnosis was made by correlating the clinical presentation with that of the radiological and histopathological findings. This is a rare entity because of an unusual combination of Asian race along with the association of dentigerous cyst.

Oral dyskinesia: a clinical overview.

PubMed

Blanchet, Pierre J; Rompré, Pierre H; Lavigne, Gilles J; Lamarche, Claude

2005-01-01

Dentists may be the first health care professionals to recognize unusual and abnormal oral movements collectively termed oral dyskinesias. The aims of this clinical overview are to raise the dental community's awareness about this important and complex topic and describe the clinical features and management of the main entities. A MEDLINE search of the different entities reported in the English and French literature was conducted. The main findings of a field study on oral dyskinesia were also reviewed. Involuntary movement disorders are often drug related. In other cases, excessive oral movements may occur at any age in relation to various neuropsychiatric conditions. Orofacial dystonia apparently triggered by dental procedures has also been reported. Edentulousness has been associated with oral stereotypes. In a survey of 352 edentulous elderly individuals attending daycare centers, only 7% displayed visible oral sterotypes, and ill-fitting dentures were suggested as a possible triggering factor for the majority. A multidisciplinary evaluation is desirable in the care of individuals with oral dyskinesia and in the selection of those who may benefit from a prosthodontic approach. A good knowledge of potentially offending drugs may allow avoidance of unnecessary procedures.

12 CFR 5.34 - Operating subsidiaries.

Code of Federal Regulations, 2012 CFR

2012-01-01

... entity if: (A) The bank has the ability to control the management and operations of the subsidiary; (B... entity is a corporation, limited liability company, or limited partnership; and (3) The bank: (i) Has the... analysis if the proposal is novel, unusually complex, or raises substantial unresolved legal issues. In...

12 CFR 5.34 - Operating subsidiaries.

Code of Federal Regulations, 2013 CFR

2013-01-01

... entity if: (A) The bank has the ability to control the management and operations of the subsidiary; (B... entity is a corporation, limited liability company, or limited partnership; and (3) The bank: (i) Has the... analysis if the proposal is novel, unusually complex, or raises substantial unresolved legal issues. In...

12 CFR 5.34 - Operating subsidiaries.

Code of Federal Regulations, 2011 CFR

2011-01-01

... entity if: (A) The bank has the ability to control the management and operations of the subsidiary; (B... section; (2) The entity is a corporation, limited liability company, or limited partnership; and (3) The... require an applicant to submit a legal analysis if the proposal is novel, unusually complex, or raises...

12 CFR 5.34 - Operating subsidiaries.

Code of Federal Regulations, 2014 CFR

2014-01-01

... entity if: (A) The bank has the ability to control the management and operations of the subsidiary; (B... entity is a corporation, limited liability company, or limited partnership; and (3) The bank: (i) Has the... analysis if the proposal is novel, unusually complex, or raises substantial unresolved legal issues. In...

A Mimicker of Gallbladder Carcinoma: Cystic Gastric Heterotopia with Intestinal Metaplasia.

PubMed

Özgün, Gonca; Adim, Şaduman Balaban; Uğraş, Nesrin; Kiliçturgay, Sadık

2017-01-01

Heterotopic gastric mucosa in the gallbladder is an unusual entity and is usually clinically silent. We report a 75-year-old female patient who presented with intermittent upper abdomial pain radiating to the back. Abdominal imaging studies showed a sessile polypoid lesion and a gallstone in the gallbladder. Gallbladder carcinoma was suspected and cholecystectomy performed. Intraoperative frozen section examination suggested mucinous tumor, suspicious for malignancy. However, the permanent sections revealed aberrant gastric tissue consisted of gastric pyloric and fundic glands of heterotopic gastric mucosa with intestinal metaplasia in the gallbladder.

78 FR 2721 - Designation of Entities Pursuant to Executive Order 13413

Federal Register 2010, 2011, 2012, 2013, 2014

2013-01-14

... Democratic Republic of Congo.'' DATES: The designation by the Director of OFAC of the two entities identified... relation to the Democratic Republic of the Congo constitutes an unusual and extraordinary threat to the.... FDLR; a.k.a. ``FOCA''; a.k.a. FORCE COMBATTANTE ABACUNGUZI), North and South Kivu, Congo, Democratic...

Successful conservative management of symptomatic bilateral dorsal patellar defects presenting with cartilage involvement and bone marrow edema: MRI findings.

PubMed

Kwee, Thomas C; Sonneveld, Heleen; Nix, Maarten

2016-05-01

The dorsal patellar defect is a relatively rare entity that involves the superolateral quadrant of the patella. It is usually considered to represent a delayed ossification process, although its exact origin remains unclear. Because of its usually innocuous nature and clinical course, invasive interventions are generally deemed unnecessary, although curretage has been successfully performed on symptomatic cases. This case report presents a rather unusual case of symptomatic bilateral dorsal patellar defects with cartilage involvement and widespread surrounding bone marrow edema as demonstrated by magnetic resonance imaging (MRI). Both cartilage involvement and bone marrow edema should be considered part of the spectrum of associated MRI findings that can be encountered in this entity. Furthermore, the presented case shows that symptomatic dorsal patellar defects can be treated conservatively with success and that (decrease of) pain symptoms are likely related to (decrease of) bone marrow edema.

Acute Hemorrhagic Edema of Infancy: an unusual diagnosis for the general pediatrician

PubMed Central

Cunha, Diego Fontana Siqueira; Darcie, Ana Letícia Fornazieri; Ferronato, Angela Espósito; Hein, Noely; Lo, Denise Swei; Yoshioka, Cristina Ryoka Miyao; Hirose, Maki; Cardoso, Debora Morais; Gilio, Alfredo Elias

2015-01-01

Acute Hemorrhagic Edema of Infancy (AHEI) is a rare leukocytoclastic vasculitis, clinically characterized by the classical triad: palpable purpuric skin lesions, edema and fever, and is commonly misdiagnosed as Henoch-Schönlein purpura. In addition to its sudden onset, AHEI is also characterized by its self-limited course with complete and spontaneous recovery occurring between 1 and 3 weeks. Because of the scarcity of studies on therapy with corticosteroids, the conservative approach is usually recommended. The authors report an unusual case of an one-year-old boy who presented with typical cutaneous rash of AHEI and orchitis, the latter showing complete resolution after less than 24 hours of prednisolone therapy. The authors call attention to this entity mainly as a differential diagnosis of Henoch-Schönlein purpura and to the importance of new studies to establish the benefits of corticosteroid therapy for AHEI. PMID:26558246

Acute Hemorrhagic Edema of Infancy: an unusual diagnosis for the general pediatrician.

PubMed

Cunha, Diego Fontana Siqueira; Darcie, Ana Letícia Fornazieri; Benevides, Gabriel Nuncio; Ferronato, Angela Espósito; Hein, Noely; Lo, Denise Swei; Yoshioka, Cristina Ryoka Miyao; Hirose, Maki; Cardoso, Debora Morais; Gilio, Alfredo Elias

2015-01-01

Acute Hemorrhagic Edema of Infancy (AHEI) is a rare leukocytoclastic vasculitis, clinically characterized by the classical triad: palpable purpuric skin lesions, edema and fever, and is commonly misdiagnosed as Henoch-Schönlein purpura. In addition to its sudden onset, AHEI is also characterized by its self-limited course with complete and spontaneous recovery occurring between 1 and 3 weeks. Because of the scarcity of studies on therapy with corticosteroids, the conservative approach is usually recommended. The authors report an unusual case of an one-year-old boy who presented with typical cutaneous rash of AHEI and orchitis, the latter showing complete resolution after less than 24 hours of prednisolone therapy. The authors call attention to this entity mainly as a differential diagnosis of Henoch-Schönlein purpura and to the importance of new studies to establish the benefits of corticosteroid therapy for AHEI.

EML4-ALK-positive lung adenocarcinoma presenting an unusual metastatic pattern in a 29-year-old woman who is alive and well in her third year follow up:A case report.

PubMed

Tokat, Fatma; Zeren, Handan; Barut, Pinar; Tansan, Sualp; Ince, Umit

2017-01-01

Non-small cell lung cancer (NSCLC) is a frequent tumor entity with high mortality. Although several newly discovered chromosomal translocations and mutations opened new horizons for targeted therapy, literature still lacks large series of NSCLC with chromosomal abberations and their correlations with histological and clinical features. We present a case of echinoderm microtubule-associated protein-like 4-anaplastic lymphoma kinase (EML4-ALK) translocation positive adenocarcinoma of the lung with an unusual metastatic pattern in a 29-year-old young woman. Young adult non-smoker female patients with an unexplained pleural effusion and signs of metastatic disease should alert the physicians straight away for all types of malignancies including lung cancer. Any skin lesions should be evaluated carefully, biopsies should be done to exclude metastasis in urgency. On the other hand, an uncommon clinical presentation of a lung cancer requires corresponding molecular testing rapidly in order to offer the best treatment option.

Locally aggressive and multifocal phosphaturic mesenchymal tumors: two unusual cases of tumor-induced osteomalacia.

PubMed

Higley, Meghan; Beckett, Brooke; Schmahmann, Sandra; Dacey, Elizabeth; Foss, Erik

2015-12-01

Tumor-induced osteomalacia (TIO) has long been recognized as a clinical paraneoplastic syndrome. The identification of a unique histopathologic entity, the phosphaturic mesenchymal tumor (PMT), as a distinct etiology for TIO has been a more recent discovery. The majority of published cases describe a solitary, non-aggressive appearing soft tissue or osseous lesions in patients with osteomalacia; aggressive appearing or multifocal lesions appear to be exceedingly rare. These tumors characteristically secrete fibroblast growth factor 23 (FGF23). Elevated serum levels of FGF23 result in phosphate wasting and osteomalacia. In the majority of cases, laboratory abnormalities and clinical signs and symptoms of osteomalacia precede identification of the causative lesion by years. Following diagnosis, complete resection with wide margins to prevent local recurrence is most often curative. Imaging characteristics of PMT are diverse and remain incompletely defined, as the majority of previous publications are outside of the radiologic literature. We present multiple imaging modalities in two cases of patients with debilitating osteomalacia and unusual appearing PMTs: one with a locally aggressive lesion leading to pathologic fracture, the second presenting with exceedingly rare multifocal PMT.

Are Biological Entities Isolated from the Lower Stratosphere (22-27 km) Outgoing from Earth or Incoming from Space?

NASA Astrophysics Data System (ADS)

Wainwright, Milton; Rose, Christopher E.; Baker, Alexander J.; Wickramasinghe, N. Chandra

Biological entities were isolated, at a height of between 22-27 km in the stratosphere. Sampling of this region was carried out in the UK in July 2013 using a relatively simple low-cost balloon-borne sampler carrying aseptically clean scanning electron microscope stubs onto which aerosols were directly captured. The entities varied from a presumptive colony of ultra small bacteria to two unusual individual organisms and part of a diatom frustule. Biological entities of this nature have not previously been reported occurring in the stratosphere; their likely origin is discussed and we provide arguments to support our view that such biological entities may have arrived from space.

Partial segmental thrombosis of the corpus cavernosum: imaging findings.

PubMed

Moya-Sánchez, E; Medina-Benítez, A; Medina-Salas, V; Fernández-Navarro, L

2018-03-05

Partial segmental thrombosis of the corpus cavernosum is an unusual clinical condition of unknown origin that mainly affects young males, whose characteristic presentation is the appearance of unexplained perineal pain associated with a palpable perineal mass. This entity consists of thrombosis in the perineal portion of the corpus cavernosum, usually unilateral and it is associated with underlying malignant pathologies and predisposing factors such as microtrauma. After the adequate adherence to conservative treatment, the appearance of complications such as erectile dysfunction is very uncommon. Copyright © 2018 SERAM. Publicado por Elsevier España, S.L.U. All rights reserved.

Acute viral hepatitis E presenting with haemolytic anaemia and acute renal failure in a patient with glucose-6-phosphate dehydrogenase deficiency.

PubMed

Tomar, Laxmikant Ramkumarsingh; Aggarwal, Amitesh; Jain, Piyush; Rajpal, Surender; Agarwal, Mukul P

2015-10-01

The association of acute hepatitis E viral (HEV) infection with glucose-6-phosphate dehydrogenase (G6PD) deficiency leading to extensive intravascular haemolysis is a very rare clinical entity. Here we discuss such a patient, who presented with acute HEV illness, developed severe intravascular haemolysis and unusually high levels of bilirubin, complicated by acute renal failure (ARF), and was later on found to have a deficiency of G6PD. The patient recovered completely with haemodialysis and supportive management. © The Author(s) 2014.

Zone of Polarizing Activity Regulatory Sequence Mutations/Duplications with Preaxial Polydactyly and Longitudinal Preaxial Ray Deficiency in the Phenotype: A Review of Human Cases, Animal Models, and Insights Regarding the Pathogenesis

PubMed Central

2018-01-01

Clinicians and scientists interested in developmental biology have viewed preaxial polydactyly (PPD) and longitudinal preaxial ray deficiency (LPAD) as two different entities. Point mutations and duplications in the zone of polarizing activity regulatory sequence (ZRS) are associated with anterior ectopic expression of Sonic Hedgehog (SHH) in the limb bud and usually result in a PPD phenotype. However, some of these mutations/duplications also have LPAD in the phenotype. This unusual PPD-LPAD association in ZRS mutations/duplications has not been specifically reviewed in the literature. The author reviews this unusual entity and gives insights regarding its pathogenesis. PMID:29651423

Glial heterotopia of the orbit: a rare cause of proptosis.

PubMed

Bakhti, Souad; Terkmani, Fella; Tighilt, Nabila; Benmouma, Youcef; Boumehdi, Nazim; Djennas, Mohamed

2016-11-01

Glial heterotopia is defined as presence of normal glial tissue in an unusual location without connection with the brain. It is a very rare clinical entity occuring mostly in the head and neck region which is generally present at birth. Orbital location is very rare. We report a case of a 4-month-old girl presenting congenital proptosis with progressive increase. CT scan revealed an intraorbital mass without bony defect. The patient was operated, and resection was subtotal. Histologically, the tumor was composed of glial tissue with plexus choroid and pathologist concluded glial heterotopia. The child is under constant medical supervision because recurrences can be observed after incomplete resection; she had no new clinical signs at 18 months follow-up.

"Diesel siphoner's lung": Exogenous lipoid pneumonia following hydrocarbon aspiration.

PubMed

Venkatnarayan, Kavitha; Madan, Karan; Walia, Ritika; Kumar, Jaya; Jain, Deepali; Guleria, Randeep

2014-01-01

Lipoid pneumonia is an unusual and uncommon form of pneumonia caused by aspiration of fatty substances. Hydrocarbon pneumonitis following aspiration of diesel is a form of exogenous lipoid pneumonia wherein, aspirated diesel reaches the alveoli rapidly without evoking any significant cough, but initiates an intense inflammatory reaction in the pulmonary parenchyma. This is a rarely described clinical scenario, although the practice of diesel siphonage from automobiles is a common practice in developing countries. We herein describe a 40-year-old male patient, in whom the diagnosis of lipoid pneumonia was delayed for a long duration and highlight the importance of taking a detailed occupational exposure history in patients with non-resolving pneumonia to rule out the underlying possibility of this rare clinical entity.

[Clinical aspects of witchcraft delusions].

PubMed

Pashkovskiĭ, V E

2005-01-01

To distinguish clinical variants and to specify nosologic entity of witchcraft delusions, 69 patients (10 males, aged 15-72 years) have been examined. It was found that witchcraft delusions exist in passive and active forms. In a passive form, the patient is sure that unknown (mystic) power damaged him/her; in an active form the patient, possessing a gift for unusual abilities, can influence the others (bewitches, heals, etc). Five clinical syndromes, in the structure of which the above delusions were found, namely, paranoiac-hypochondriac, hallucination-paranoid, depressive-paranoid, paraphrenic and delirious, were identified. Psychoses of schizophrenia spectrum were diagnosed in 52 patients, organic--in 8, alcoholic--in 7 and recurrent depressive disorder--in 2. Clinical significance of witchcraft delusions is closely related to its social aspect. Being combined with ideas of persecution, poisoning and damage, it results in the brutal forms of delusions defense and may be considered as an unfavorable prognostic trait.

Collagenous gastritis: an unusual association with profound weight loss.

PubMed

Wang, Hanlin L; Shah, Amit G; Yerian, Lisa M; Cohen, Russell D; Hart, John

2004-02-01

Collagenous gastritis is a distinctive disorder characterized by thickening of the subepithelial collagen layer in the gastric mucosa. Although this entity was recognized in 1989, its etiology, pathogenesis, and clinicopathologic features remain poorly understood because of its rarity. An unusual case of collagenous gastritis was observed in a 37-year-old man who presented with profound weight loss, a feature that has not previously been emphasized.

A Rare Case of Adrenal Pheochromocytoma with Unusual Clinical and Biochemical Presentation: 
A Case Report and Literature Review

PubMed Central

Mula-Abed, Waad-Allah S.; Ahmed, Riyaz; Ramadhan, Fatima A.; Al-Kindi, Manal K.; Al-Busaidi, Noor B.; Al-Muslahi, Hilal N.; Al-Lamki, Mohammad A.

2015-01-01

A 50-year-old Omani woman presented to the Outpatient Clinic, Royal Hospital, Oman with right upper abdominal pain and backache that had lasted 10 days. She had no palpitation, sweating, or hypertension (blood pressure 122/78mmHg). The patient’s history revealed that she had a similar incidence of abdominal pain two months prior, which was a "dull ache" in nature and somewhat associated with headache. The pain was relieved using a mild analgesic drug. Abdominal ultrasonography showed a right adrenal mass, and both computed tomography and magnetic resonance imaging of the adrenal glands confirmed a right adrenal mass consistent with adrenal pheochromocytoma. However, clinical biochemistry tests revealed normal levels of plasma catecholamines (dopamine, norepinephrine, and epinephrine) and metanephrine, which are unusual findings in adrenal pheochromocytoma. Meanwhile, the patient had markedly raised plasma normetanephrine (10-fold) which, together with the normal metanephrine, constitutes a metabolic profile that is compatible with extra-adrenal pheochromocytoma. The patient also had markedly raised chromogranin A (16-fold), consistent with the presence of a neuroendocrine tumor. Laparoscopic right adrenalectomy was done and the adrenal tumor was excised and retrieved in total. Histopathology and immunohistochemistry confirmed the diagnosis of adrenal pheochromocytoma; the tumor cells being positive for chromogranin, synaptophysin, and S-100 protein. Following surgery, the patient did well and showed full recovery at follow-up after three months. Molecular genetic testing showed no pathogenic mutation in pheochromocytoma genes: MAX, SDHA, SDHAF2, SDHB, SDHC, SDHD, VHL, and PRKAR1A. A review of the literature was conducted to identify the pathophysiology and any previous reports of such case. To our knowledge, this is the first report in Oman of the extremely rare entity of pheochromocytoma with an unusual clinical and biochemical scenario. PMID:26421121

A Rare Case of Adrenal Pheochromocytoma with Unusual Clinical and Biochemical Presentation: 
A Case Report and Literature Review.

PubMed

Mula-Abed, Waad-Allah S; Ahmed, Riyaz; Ramadhan, Fatima A; Al-Kindi, Manal K; Al-Busaidi, Noor B; Al-Muslahi, Hilal N; Al-Lamki, Mohammad A

2015-09-01

A 50-year-old Omani woman presented to the Outpatient Clinic, Royal Hospital, Oman with right upper abdominal pain and backache that had lasted 10 days. She had no palpitation, sweating, or hypertension (blood pressure 122/78mmHg). The patient's history revealed that she had a similar incidence of abdominal pain two months prior, which was a "dull ache" in nature and somewhat associated with headache. The pain was relieved using a mild analgesic drug. Abdominal ultrasonography showed a right adrenal mass, and both computed tomography and magnetic resonance imaging of the adrenal glands confirmed a right adrenal mass consistent with adrenal pheochromocytoma. However, clinical biochemistry tests revealed normal levels of plasma catecholamines (dopamine, norepinephrine, and epinephrine) and metanephrine, which are unusual findings in adrenal pheochromocytoma. Meanwhile, the patient had markedly raised plasma normetanephrine (10-fold) which, together with the normal metanephrine, constitutes a metabolic profile that is compatible with extra-adrenal pheochromocytoma. The patient also had markedly raised chromogranin A (16-fold), consistent with the presence of a neuroendocrine tumor. Laparoscopic right adrenalectomy was done and the adrenal tumor was excised and retrieved in total. Histopathology and immunohistochemistry confirmed the diagnosis of adrenal pheochromocytoma; the tumor cells being positive for chromogranin, synaptophysin, and S-100 protein. Following surgery, the patient did well and showed full recovery at follow-up after three months. Molecular genetic testing showed no pathogenic mutation in pheochromocytoma genes: MAX, SDHA, SDHAF2, SDHB, SDHC, SDHD, VHL, and PRKAR1A. A review of the literature was conducted to identify the pathophysiology and any previous reports of such case. To our knowledge, this is the first report in Oman of the extremely rare entity of pheochromocytoma with an unusual clinical and biochemical scenario.

Early awareness of cerebrospinal fluid hypovolemia after craniotomy for microsurgical aneurysmal clipping.

PubMed

Kawahara, Ichiro; Tsutsumi, Keisuke; Matsunaga, Yuki; Takahata, Hideaki; Ono, Tomonori; Toda, Keisuke; Baba, Hiroshi

2013-08-01

Mild cerebrospinal fluid (CSF) hypovolemia is a well-known clinical entity, but critical CSF hypovolemia that can cause transtentorial herniation is an unusual and rare clinical entity that occurs after craniotomy. We investigated CSF hypovolemia after microsurgical aneurysmal clipping for subarachnoid hemorrhage (SAH). This study included 144 consecutive patients with SAH. Lumbar drainage (LD) was inserted after general anesthesia or postoperatively as a standard perioperative protocol. CSF hypovolemia diagnosis was based on three criteria. Eleven patients (7.6%) were diagnosed with CSF hypovolemia according to diagnostic criteria in a postoperative range of 0-8 days. In all patients, signs or symptoms of CSF hypovolemia improved within 24 hours by clamping LD and using the Trendelenburg position. As a cause of acute clinical deterioration after aneurysmal clipping, CSF hypovolemia is likely under-recognized, and may actually be misdiagnosed as vasospasm or brain swelling. We should always take the etiology of CSF hypovolemia into consideration, and especially pay attention in patients with pneumocephalus and subdural fluid collection alongside brain sag on computed tomography. These patients are at higher risk developing of pressure gradients between their cranial and spinal compartments, and therefore, brain sagging after LD, than after ventricular drainage. We should be vigilant to strictly manage LD so as not to produce high pressure gradients.

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

PubMed

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

2018-01-01

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

[Clinical manifestations of organizing pneumonia].

PubMed

Hunter, Martín; Ludueña, Ana; Telias, Irene; Aruj, Patricia; Rausch, Silvia; Suárez, Juan Pablo

Organizing pneumonia is a clinical entity asociated with nonspecific symptoms and radiological findings and abnormalities in pulmonary function tests. It is defined by the characteristic histopathological pattern: filling of alveoli and respiratory bronchioles by plugs of granulation tissue. It can be idiopathic (COP) or secondary to other causes (SOP). It is an unusual finding and the clinical and radiographic findings are nonspecific. For specific diagnosis an invasive procedure has to be done, but often empirical treatment is started when there's a clinical suspicion. We describe the clinical characteristics of 13 patients with histological diagnosis of organizing pneumonia. Data was obtained from their medical records. The median age was 76 years and the median time to diagnosis from the onset of symptoms was 31 days. In 10 cases the diagnosis was made by transbronchial biopsy. 8 patients required hospitalization, 4 of them received high doses of steroids and 3 required ventilatory support. One patient died from a cause attributable to this entity and 5 relapsed. Dyspnea, cough and fever were the most frequent symptoms. Most patients had more than one tomographic pattern being the most common ground glass opacities and alveolar consolidation. Nine patients were diagnosed with COP and 4 with SOP. The most frequent underlying cause of SOP was drug toxicity. The clinical characteristics of the reported cases are consistent with previously published series. As an interesting feature, there was a group of patients that needed high doses of steroids and ventilatory support.

Trichosporon inkin and Trichosporon mucoides as unusual causes of white piedra of scalp hair.

PubMed

Tendolkar, Uma; Shinde, Alka; Baveja, Sujata; Dhurat, Rachita; Phiske, Meghana

2014-01-01

White piedra of scalp hair is considered a rare entity. We report three cases of this disorder all of whom presented with nodules on the hair. Potassium hydroxide preparations of the hair revealed clustered arthrospores and mature, easily detachable nodules. Cultures grew Trichosporon inkin in 2 patients and Trichosporon mucoides in one patient. Both these fungi are unusual causes of white piedra.

Pancreatic and Gastric Heterotopia with Associated Submucosal Lipoma Presenting as a 7-cm Obstructive Tumor of the Ileum: Resection with Double Balloon Enteroscopy.

PubMed

Jiang, Kun; Stephen, F Otis; Jeong, Daniel; Pimiento, Jose M

2015-01-01

Pancreatic and gastric heterotopias are rare clinical entities which have been identified throughout the entire length of the gastrointestinal tract. Combined gastric and pancreatic heterotopias, although unusual, have been described in the duodenum and jejunum, and in other structures, including Meckel's diverticulum and the ampulla of Vater. We report a novel case of pancreatic and gastric heterotopia with an associated submucosal lipoma in a 38-year-old female with a recent history of rectal cancer and chronic crampy abdominal pain. On computed tomography, a 7-cm luminal polypoid mass extending into the distal ileum was discovered. The mass was successfully resected using retrograde double balloon enteroscopy. We believe this is the first report of all three histological entities co-existing in an obstructive ileal lesion in an adult. It highlights endoscopic resection trough double enteroscopy as a safe alternative to more invasive surgical approaches for this type of lesion.

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

PubMed

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

2012-04-01

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

Occurrence of mesothelial/monocytic incidental cardiac excrescences in material from open-heart procedures: case reports and literature review.

PubMed

Grossi, Vitor Gabriel Ribeiro; Lee, Karen; Demarchi, Léa Maria; Castelli, Jussara Bianchi; Aiello, Vera Demarchi

2018-01-01

Mesothelial/monocytic incidental cardiac excrescences (MICE) are unusual findings during the histological analysis of material from the pericardium, mediastinum, or other tissues collected in open-heart surgery. Despite their somewhat worrisome histological appearance, they show a benign clinical course, and further treatment is virtually never necessary. Hence, the importance of recognizing the entity relays in its differential diagnosis, as an unaware medical pathologist may misinterpret it for a malignant neoplasm. Other mesothelial and histiocytic proliferative lesions, sharing very close histological morphology and immunohistochemistry features with MICE, have been described in sites other than the heart or the mediastinum. This similarity has led to the proposal of the common denomination "histiocytosis with raisinoid nuclei." We report three cases from the pathology archives of the Heart Institute of São Paulo University (Incor/HC-FMUSP), diagnosed as "mesothelial/monocytic incidental cardiac excrescence," with immunohistochemical documentation, and provide a literature review of this entity.

Mycobacterium tuberculosis infection within parotid gland Warthin tumor.

PubMed

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

2008-11-01

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

[Trapped temporal horn, an unusual form of obstructive hydrocephalus: 5 case-reports].

PubMed

Abderrahmen, K; Gdoura, Y; Kallel, J; Jemel, H

2016-04-01

"Entrapped temporal horn" is an unusual form of obstructive hydrocephalus which is due to an obstacle at the trigone of the lateral ventricle that seals off the temporal horn that may act as a space occupying process. In this study, our aim was to assess the clinical presentation, imaging, pathophysiology and the management of this entity. The medical records of patients with entrapped temporal horn diagnosed between January 2003 and December 2012 were reviewed retrospectively. Five patients were identified. In four cases, the condition developed after cranial surgery; an infant having two revisions of a ventriculoperitoneal shunt; an adult operated for a glioblastoma, an infant operated on for cerebral hydatidosis and an infant operated for an occipital encephalocele. In the last patient, the entrapped temporal horn revealed sarcoidosis. Trapped temporal horn syndrome can act as a space occupying process and requires surgical management. Internal shunting provides good results. However, the long term outcome depends on the etiology. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

Complete duplication of bladder and urethra in a sagittal plane in a male infant: case report and literature review.

PubMed

Coker, Alisa M; Allshouse, Michael J; Koyle, Martin A

2008-08-01

Complete duplication of the bladder and urethra is a rare entity. It may occur in the coronal and sagittal planes, and is often associated with other organ system anomalies, in particular of the gastrointestinal tract. We report an unusual variant of sagittal duplication of the bladder, in a male, associated with rudimentary hindgut duplication, and review the literature pertaining to this unusual anomaly.

Biological entities isolated from the stratosphere (22-27km): case for their space origin

NASA Astrophysics Data System (ADS)

Wainwright, Milton; Rose, Christopher E.; Baker, Alexander J.; Wickramasinghe, N. Chandra

2013-09-01

Biological entities were isolated at a height of between 22-27 km in the stratosphere. Sampling of this region was carried out in the UK in July 2013 using a relatively simple low-cost balloon-borne sampler carrying aseptically clean scanning electron microscope stubs onto which aerosols were directly captured. The entities varied from a presumptive colony of ultra-small bacteria to two unusual individual organisms - part of a diatom frustule and a 200 micron-sized particle mass interlaced with biological filaments. Biological entities of this nature have not previously been reported occurring in the stratosphere; their likely origin is discussed and we provide arguments to support our view that such biological entities may have arrived from space. The new data gives strong confirmation of the Hoyle-Wickramasinghe theory of cometary panspermia.

[Cenesthopathies: a disorder of background emotions at the crossroads of the cognitive sciences and phenomenology].

PubMed

Graux, J; Lemoine, M; Gaillard, P; Camus, V

2011-10-01

Cenesthesia and cenesthopathy have played a fundamental role in 19th and early 20th century French and German psychiatry. Cenesthesia refers to the internal, global, implicit and affective perception of one's own body. The concept of cenesthopathy was coined by Dupre and Camus in 1907 to describe a clinical entity characterized by abnormal and strange bodily sensations. In this review, we examine the history of these concepts and the influence they have had on clinical, nosographical and phenomenological psychiatry and on cognitive neuropsychiatry. We performed a narrative review of the published research literature. Classical French and German psychiatrists have written extensively on cenesthesia and cenesthopathy although these notions are no longer in the mainstream of contemporary psychiatry. However, they are still present in contemporary psychiatric nosography in the form of some controversial clinical entities clearly related to cenesthesia such as cenesthetic schizophrenia, hypochondriacal monothematic delusions, or the Capgras and the Cotard syndromes. These clinical entities are all associated with a state of depersonalization. We point out the similarities between Ey's description of the depersonalization syndrome, especially in psychosis, and the characteristics of cenesthesia. Philosophers like Sartre or Merleau-Ponty have developed the concept of cenesthesia, and in particular have added new concepts like "body schema". Similarly, phenomenological psychiatrists like Minkowski or Tellenbach have attempted to describe psychiatric disorders associated with cenesthesia and have also proposed new concepts (i.e. atmospheric sense) in order to understand them better. More recently, cognitive neuropsychiatry has tried to discover the mechanisms, which cause or contribute to the genesis of delusions. The majority of delusion theories developed in cognitive neuropsychiatry consider that the explanation of monothematic delusions involves one or two explanatory stages. The first stage corresponds to an abnormal experience (the experiential stage) while the second is related to abnormal reasoning (the inferential stage). This theoretical first stage has been considered to be the result of a highly unusual or bizarre perceptual experience. According to the authors, this experience refers to a phenomenon of depersonalization, a loss of cenesthesia, or a loss of a feeling of familiarity. For example, the neurocognitive models of the Capgras and Cotard syndromes have in common the belief that they are both based on various kinds of unusual experiences. These unusual experiences are thought to include affective or emotional experiences. Capgras' syndrome is possibly triggered by an abnormal affective experience in response to the sight of closed-person's face. Similarly, the Cotard syndrome may result from a general flattening of affective responses to external stimuli. The inferential stage can also differentiate between the two syndromes. Some empirical validation has already been obtained in Capgras' syndrome but not yet in Cotard's syndrome. This review illustrates that the historical descriptions of cenesthesia and cenesthopathy remain relevant in contemporary neurocognitive models and more generally suggests that the comprehension of quite complex phenomena like delusion requires a multidisciplinary approach. Copyright © 2010 L’Encéphale, Paris. Published by Elsevier Masson SAS. All rights reserved.

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

PubMed

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

2012-02-22

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

What's in a Gene? Pseudoexfoliation Syndrome and Pigment Dispersion Syndrome in the Same Patient.

PubMed

Pokrovskaya, Olya; O'Brien, Colm

2016-01-01

Pseudoexfoliation syndrome (PXS) and pigment dispersion syndrome (PDS) are two of the commonest disorders to produce secondary open-angle glaucoma through trabecular meshwork blockage. Each is a defined clinical entity, and while genetics likely play a significant role in the pathogenesis of both, the specific genes involved appear to be distinct. There is surprisingly little published in the literature regarding the coexistence of PDS and PXS in the same patient. We present the intriguing case of a patient who developed PDS in one eye and PXS in the other. This unusual case acts as a platform for an interesting discussion of the genomics of PXS and PDS.

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

PubMed

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

2012-02-01

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

Primary tubercular abscess of the breast – an unusual entity

PubMed Central

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

2012-01-01

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

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

PubMed

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

2014-01-01

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

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

[Eccrine Porocarcinoma: clinical-pathological study of 19 cases in the Instituto Nacional de Enfermedades Neoplásicas, Lima - Peru].

PubMed

Casavilca, Sandro; Lama, Anny; Guerrero, Melvy; Essary, Lydia R; Mantilla, Raúl; Cano, Luis; Barrionuevo, Carlos

2013-07-01

In order to describe the clinical-pathological characteristics of the cases of Eccrine Porocarcinoma (EP) found in the Instituto Nacional de Enfermedades Neoplásicas (INEN), a cross-sectional study was carried out, including all EP cases recorded between 1998 and 2009. A revision of the clinical-pathological records indentified and a new reading of the pathology slides of the cases found were performed. 19 EP cases were found, the median age of which was 64 years (range: 37-98). EP was primarily found on male patients (57.9%) and was most commonly located on the foot (21.1%), followed by the head, thorax and thigh (15.8%, respectively). In one case, EP was located on the gluteal region, and showed an unusually invasive behavior and rectal involvement. We conclude that EP is a rather uncommon entity in Peru. Its most common location is on the foot and it affects mostly male patients for the most part.

Case report of an unusual combination of purulent pericarditis and false aneurysm of the ascending aorta.

PubMed

Meier, David; Kirsch, Matthias; Qanadli, Salah Dine; Muller, Olivier; Fishman, Daniel; Trana, Catalina

2018-01-29

Purulent pericarditis is an uncommon entity, which is, in very rare cases, associated to infection of the aorta. We present the case of a 42-year-old male patient, who was admitted to hospital complaining of tiredness, diarrhea and leg edema. Clinical examination revealed a hypotensive and obviously shocked patient. He was ultimately diagnosed with a rare combination of purulent pericarditis followed by false aneurysm of the ascending aorta. He was successfully treated by surgical pericardial drainage, replacement of the ascending aorta and antibiotics. Mycotic aneurysms can rarely be associated with purulent pericarditis. Our literature review shows that there are two mechanisms explaining this association and that in most of the published cases infective endocarditis could not be demonstrated.

Posterior rectus sheath hernia causing intermittent small bowel obstruction.

PubMed

Lenobel, Scott; Lenobel, Robert; Yu, Joseph

2014-09-01

A posterior rectus sheath hernia is an abdominal wall hernia that is rarely encountered. Owing to its rarity, it can be easily overlooked in the setting of a patient presenting with abdominal pain. We report a case of a posterior rectus sheath hernia that caused intermittent small bowel obstruction. The unusual aspects of this case are that the defect was large, measuring 6 cm in the transverse diameter, and that it contained small bowel within a large portion of the rectus sheath. Because the defect was large and affected nearly the entire posterior rectus sheath, it was difficult to discern on computed tomography until a small bowel obstruction developed. In this case, a limited awareness of this clinical entity contributed to the delay in diagnosis.

4p16.1-p15.31 duplication and 4p terminal deletion in a 3-years old Chinese girl: Array-CGH, genotype-phenotype and neurological characterization.

PubMed

Piccione, Maria; Salzano, Emanuela; Vecchio, Davide; Ferrara, Dante; Malacarne, Michela; Pierluigi, Mauro; Ferrara, Ines; Corsello, Giovanni

2015-07-01

Microscopically chromosome rearrangements of the short arm of chromosome 4 include the two known clinical entities: partial trisomy 4p and deletions of the Wolf-Hirschhorn critical regions 1 and 2 (WHSCR-1 and WHSCR-2, respectively), which cause cranio-facial anomalies, congenital malformations and developmental delay/intellectual disability. We report on clinical findings detected in a Chinese patient with a de novo 4p16.1-p15.32 duplication in association with a subtle 4p terminal deletion of 6 Mb in size. This unusual chromosome imbalance resulted in WHS classical phenotype, while clinical manifestations of 4p trisomy were practically absent. This observation suggests the hypothesis that haploinsufficiency of sensitive dosage genes with regulatory function placed in WHS critical region, is more pathogenic than concomitant 4p duplicated segment. Additionally clinical findings in our patient confirm a variable penetrance of major malformations and neurological features in Chinese children despite of WHS critical region's deletion. Copyright © 2015 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

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

PubMed

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

2016-12-01

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

14 CFR 1204.1508 - Time limitations for receiving comments on proposed direct Federal development.

Code of Federal Regulations, 2010 CFR

2010-01-01

... proposed direct Federal development. 1204.1508 Section 1204.1508 Aeronautics and Space NATIONAL AERONAUTICS... comments on proposed direct Federal development. (a) Except in unusual circumstances, the Administrator gives state processes or state, areawide, regional and local officials and entities at least 60 days...

Elephantine but not elephantiasis: Subcutaneous zygomycosis.

PubMed

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

2011-09-01

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

24 CFR 52.8 - How does the Secretary provide states an opportunity to comment on proposed Federal financial...

Code of Federal Regulations, 2014 CFR

2014-04-01

... states an opportunity to comment on proposed Federal financial assistance and direct Federal development... financial assistance and direct Federal development? (a) Except in unusual circumstances, the Secretary gives state processes or directly affected state, areawide, regional and local officials and entities...

24 CFR 52.8 - How does the Secretary provide states an opportunity to comment on proposed Federal financial...

Code of Federal Regulations, 2013 CFR

2013-04-01

... states an opportunity to comment on proposed Federal financial assistance and direct Federal development... financial assistance and direct Federal development? (a) Except in unusual circumstances, the Secretary gives state processes or directly affected state, areawide, regional and local officials and entities...

Paroxysmal myoclonic dystonia with vocalisations: new entity or variant of preexisting syndromes?

PubMed Central

Feinberg, T E; Shapiro, A K; Shapiro, E

1986-01-01

From among 1377 patients with movement disorders, four patients had an unusual movement disorder characterised by paroxysmal bursts of involuntary, regular, repetitive, rhythmic, bilateral, coordinated, simultaneous, stereotypic myoclonus and vocalisations, often associated with tonic symptoms, interference with voluntary functioning, presence of hyperactivity, attention and learning disabilities, and resistance to treatment with haloperidol and other drugs. This symptom complex may represent a new disease entity, referred to here as paroxysmal myoclonic dystonia with vocalisations or a variant or combination of other movement disorders such as Gilles de la Tourette, myoclonic, or dystonic syndromes. PMID:3457101

Occurrence of Double Monoclonal Bands on Protein Electrophoresis: An Unusual Finding.

PubMed

Srinivasan, Vishrut K; Bhagat, Priyanka; Bansal, Frainey; Chhabra, Seema

2016-06-01

Various techniques of protein electrophoresis are used for detection of monoclonal proteins/paraproteins in serum and/or urine of patients with monoclonal gammopathies. These are detected as the so-called 'M' bands (monoclonal bands) on serum protein electrophoresis and/or immunofixation electrophoresis. In most cases, a single M-band is detected. However, more than one M-band can be detected in the samples of a minor proportion of patients. This condition is termed as 'double gammopathy' or 'biclonal gammopathy'. A knowledge of such an unusual occurrence is essential for recognition and appropriate interpretation of this entity.

Congenital Limb Deficiency Associated with Intellectual Disability: Unusual Presentation in Two Subjects.

PubMed

Raza, Muhammad Ummear; Ullah, Waheed; Malik, Sajid

2016-09-01

Congenital constriction ring (CCR) and symbrachydactyly are two distinct, rare, and heterogeneous limb deficiency conditions which affect the digits. Here, we report on two different individuals with an unusual presentation of limb deficiency accompanying intellectual disability (ID) and certain other malformations. In the first index female, CCR occurred with mild ID, squint eyes, obesity, and metatarsus adductus. The second index male was presented with symbrachydactyly, profound ID, and speech/hearing impairments. The association of limb deficiency conditions with these anomalies is very rare. Differential diagnosis and literature survey have been offered to establish the rarity of these entities.

Phosphaturic mesenchymal tumor, mixed connective tissue variant, of the mandible: report of a case and review of the literature.

PubMed

Woo, Victoria L; Landesberg, Regina; Imel, Erik A; Singer, Steven R; Folpe, Andrew L; Econs, Michael J; Kim, Taeyun; Harik, Lara R; Jacobs, Thomas P

2009-12-01

Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome that results in renal phosphate wasting with hypophosphatemia. In most cases, the underlying cause of TIO is a small mesenchymal neoplasm that is often difficult to detect, resulting in delayed diagnosis. One such neoplasm is the phosphaturic mesenchymal tumor, mixed connective tissue variant (PMTMCT), an unusual entity with unique morphologic and biochemical features. Most of these tumors are found at appendicular sites with only rare cases reported in the jaws. We describe a PMTMCT involving the mandible in a patient with a protracted history of osteomalacia. A review of the current literature is provided with emphasis on the clinical and histologic features, etiopathogenesis, and management of PMTMCT in the setting of TIO.

Unexpected metastatic pheochromocytoma - an unusual presentation.

PubMed

Birrenbach, Tanja; Stanga, Zeno; Cottagnoud, Philippe; Stucki, Armin

2008-01-01

The classic triad of pheochromocytoma consists of episodic headache, sweating, and tachycardia. General clinicians should be aware, however, that this rare entity might present with a wide spectrum of clinical symptoms. We recently observed a noteworthy case of malignant pheochromocytoma where there was a lack of specific symptoms despite an advanced tumor stage. Malignancy is an important cause of mortality. Reliable diagnosis of malignancy depends upon evidence of local invasion, distant metastases, or recurrence. As in our case, new scintigraphic methods, such as 111-In-pentetreotide scintigraphy (Octreoscan), may occasionally reveal 123-I-metaiodobenzylguanidine-negative distant metastases and help to establish an early diagnosis of malignancy. Tumor size, and perhaps even biochemical profile, may be factors increasing the likelihood of a malignant process and may contribute to early identification of patients at risk.

Phosphaturic mesenchymal tumor, mixed connective tissue variant, of the mandible: Report of a case and review of the literature

PubMed Central

Woo, Victoria L.; Landesberg, Regina; Imel, Erik A.; Singer, Steven R.; Folpe, Andrew L.; Econs, Michael J.; Kim, Taeyun; Harik, Lara R.; Jacobs, Thomas P.

2009-01-01

Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome that results in renal phosphate wasting with hypophosphatemia. In most cases, the underlying cause of TIO is a small mesenchymal neoplasm that is often difficult to detect, resulting in delayed diagnosis. One such neoplasm is the phosphaturic mesenchymal tumor, mixed connective tissue variant (PMTMCT), an unusual entity with unique morphologic and biochemical features. The majority of these tumors are found at appendicular sites with only rare cases reported in the jaws. We describe a PMTMCT involving the mandible in a patient with a protracted history of osteomalacia. A review of the current literature is provided with emphasis on the clinical and histologic features, etiopathogenesis, and management of PMTMCT in the setting of TIO. PMID:19828339

Posterior Rectus Sheath Hernia Causing Intermittent Small Bowel Obstruction

PubMed Central

Lenobel, Scott; Lenobel, Robert; Yu, Joseph

2014-01-01

A posterior rectus sheath hernia is an abdominal wall hernia that is rarely encountered. Owing to its rarity, it can be easily overlooked in the setting of a patient presenting with abdominal pain. We report a case of a posterior rectus sheath hernia that caused intermittent small bowel obstruction. The unusual aspects of this case are that the defect was large, measuring 6 cm in the transverse diameter, and that it contained small bowel within a large portion of the rectus sheath. Because the defect was large and affected nearly the entire posterior rectus sheath, it was difficult to discern on computed tomography until a small bowel obstruction developed. In this case, a limited awareness of this clinical entity contributed to the delay in diagnosis. PMID:25426248

Mycobacterium avium Complex Empyema in a Patient with Interferon Gamma Autoantibodies

PubMed Central

Chung, Heath H; Opal, Steven M; Dworkin, Jonathan D

2014-01-01

Interferon gamma (IFN-γ) autoantibodies are a relatively recently discovered clinical entity, which have been shown to be associated with disseminated non-tuberculous mycobacterial (NTM) infections and other opportunistic infections. Interestingly, isolated NTM infections (without disseminated NTM infection) have not been shown to be a good predictor of the presence of IFN-γ autoantibodies. This case describes an isolated NTM empyema in a patient with IFN-γ autoantibodies and makes the argument that the development of an NTM empyema in a patient with no known immunodeficiency should prompt consideration for IFN-γ testing. Additionally, this case underscores the importance for clinicians to recognize that an unusual infection without the typical cause of impairment in immunity should prompt a more thorough investigation of the patient's immune system. PMID:25285250

TFG-MET fusion in an infantile spindle cell sarcoma with neural features.

PubMed

Flucke, Uta; van Noesel, Max M; Wijnen, Marc; Zhang, Lei; Chen, Chun-Liang; Sung, Yun-Shao; Antonescu, Cristina R

2017-09-01

An increasing number of congenital and infantile sarcomas displaying a primitive, monomorphic spindle cell phenotype have been characterized to harbor recurrent gene fusions, including infantile fibrosarcoma and congenital spindle cell rhabdomyosarcoma. Here, we report an unusual spindle cell sarcoma presenting as a large and infiltrative pelvic soft tissue mass in a 4-month-old girl, which revealed a novel TFG-MET gene fusion by whole transcriptome RNA sequencing. The tumor resembled the morphology of an infantile fibrosarcoma with both fascicular and patternless growth, however, it expressed strong S100 protein immunoreactivity, while lacking SOX10 staining and retaining H3K27me3 expression. Although this immunoprofile suggested partial neural/neuroectodermal differentiation, overall features were unusual and did not fit into any known tumor types (cellular schwannoma, MPNST), raising the possibility of a novel pathologic entity. The TFG-MET gene fusion expands the genetic spectrum implicated in the pathogenesis of congenital spindle cell sarcomas, with yet another example of kinase oncogenic activation through chromosomal translocation. The discovery of this new fusion is significant since the resulting MET activation can potentially be inhibited by targeted therapy, as MET inhibitors are presently available in clinical trials. © 2017 Wiley Periodicals, Inc.

Pregnancy-related pelvic girdle pain (PPP), I: Terminology, clinical presentation, and prevalence.

PubMed

Wu, W H; Meijer, O G; Uegaki, K; Mens, J M A; van Dieën, J H; Wuisman, P I J M; Ostgaard, H C

2004-11-01

Pregnancy-related lumbopelvic pain has puzzled medicine for a long time. The present systematic review focuses on terminology, clinical presentation, and prevalence. Numerous terms are used, as if they indicated one and the same entity. We propose "pregnancy-related pelvic girdle pain (PPP)", and "pregnancy-related low back pain (PLBP)", present evidence that the two add up to "lumbopelvic pain", and show that they are distinct entities (although underlying mechanisms may be similar). Average pain intensity during pregnancy is 50 mm on a visual analogue scale; postpartum, pain is less. During pregnancy, serious pain occurs in about 25%, and severe disability in about 8% of patients. After pregnancy, problems are serious in about 7%. The mechanisms behind disabilities remain unclear, and constitute an important research priority. Changes in muscle activity, unusual perceptions of the leg when moving it, and altered motor coordination were observed but remain poorly understood. Published prevalence for PPP and/or PLBP varies widely. Quantitative analysis was used to explain the differences. Overall, about 45% of all pregnant women and 25% of all women postpartum suffer from PPP and/or PLBP. These values decrease by about 20% if one excludes mild complaints. Strenuous work, previous low back pain, and previous PPP and/or PLBP are risk factors, and the inclusion/exclusion of high-risk subgroups influences prevalence. Of all patients, about one-half have PPP, one-third PLBP, and one-sixth both conditions combined. Overall, the literature reveals that PPP deserves serious attention from the clinical and research communities, at all times and in all countries.

41 CFR 101-6.2108 - How does the Administrator provide States an opportunity to comment on proposed Federal financial...

Code of Federal Regulations, 2010 CFR

2010-07-01

... Federal development? 101-6.2108 Section 101-6.2108 Public Contracts and Property Management Federal... assistance and direct Federal development? (a) Except in unusual circumstances, the Administrator gives State processes or directly affected State, areawide, regional and local officials and entities at least: (1...

45 CFR 1233.8 - How does the Director provide states an opportunity to comment on proposed federal financial...

Code of Federal Regulations, 2014 CFR

2014-10-01

... opportunity to comment on proposed federal financial assistance? 1233.8 Section 1233.8 Public Welfare... on proposed federal financial assistance? (a) Except in unusual circumstances, the Director gives state processes or directly affected state, areawide, regional and local officials and entities: (1) At...

45 CFR 1233.8 - How does the Director provide states an opportunity to comment on proposed federal financial...

Code of Federal Regulations, 2012 CFR

2012-10-01

... opportunity to comment on proposed federal financial assistance? 1233.8 Section 1233.8 Public Welfare... on proposed federal financial assistance? (a) Except in unusual circumstances, the Director gives state processes or directly affected state, areawide, regional and local officials and entities: (1) At...

45 CFR 1233.8 - How does the Director provide states an opportunity to comment on proposed federal financial...

Code of Federal Regulations, 2013 CFR

2013-10-01

... opportunity to comment on proposed federal financial assistance? 1233.8 Section 1233.8 Public Welfare... on proposed federal financial assistance? (a) Except in unusual circumstances, the Director gives state processes or directly affected state, areawide, regional and local officials and entities: (1) At...

45 CFR 1233.8 - How does the Director provide states an opportunity to comment on proposed federal financial...

Code of Federal Regulations, 2011 CFR

2011-10-01

... opportunity to comment on proposed federal financial assistance? 1233.8 Section 1233.8 Public Welfare... on proposed federal financial assistance? (a) Except in unusual circumstances, the Director gives state processes or directly affected state, areawide, regional and local officials and entities: (1) At...

Florid papillomatosis of the nipple: a rare presentation and review of the literature.

PubMed

Salemis, Nikolaos S

2015-01-01

Florid papillomatosis (FP) of the nipple, or nipple adenoma, is a rare benign proliferative lesion originating from the lactiferous ducts of the nipple. It most commonly affects women in their fourth and fifth decades of life. Clinically, in most cases FP presents with serous or serosanguinous nipple discharge while in many cases an erythematoid or eroded lesion, a nodule or a swelling of the nipple may coexist thus resembling Paget's disease. We describe a case of FP with a very unusual clinical presentation. Diagnostic evaluation and management of the patient are discussed along with a review of the relevant literature. We conclude that FP should be always considered in the differential diagnosis of patients presenting with a rapidly enlarging nipple nodule even in the absence of any skin lesions or nipple discharge. Early diagnosis and prompt treatment are essential. Simple complete excision in order to eliminate the risk of recurrence is the treatment of choice for FP. Although in rare cases a coincidental ipsilateral or contralateral breast cancer has been reported, FP is considered as an entirely benign clinical entity associated with excellent prognosis.

Extranasopharyngeal Angiofibroma Originating in the Inferior Turbinate: A Distinct Clinical Entity at an Unusual Site

PubMed Central

Baptista, Marco Antonio Ferraz de Barros; Pinna, Fábio de Rezende; Voegels, Richard Louis

2014-01-01

Introduction The extranasopharyngeal angiofibroma is histologically similar to juvenile nasopharyngeal angiofibroma, differing from the latter in clinical and epidemiologic characteristics. Objectives We present a case of extranasopharyngeal angiofibroma originating in the inferior turbinate. Resumed Report The patient was a girl, 8 years and 6 months of age, who had constant bilateral nasal obstruction and recurrent epistaxis for 6 months, worse on the right side, with hyposmia and snoring. Nasal endoscopy showed a reddish lesion, smooth, friable, and nonulcerated. Computed tomography showed a lesion with soft tissue density in the right nasal cavity. We used an endoscopic approach and found the lesion inserted in the right inferior turbinate. We did a subperiosteal dissection and excision with a partial turbinectomy with a resection margin of 0.5 cm. Histopathology reported it to be an extranasopharyngeal angiofibroma. Conclusion Although rare, extranasopharyngeal angiofibroma should be considered in the diagnosis of vascular tumors of the head and neck. PMID:25992131

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

PubMed Central

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

2014-01-01

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

Finding Cervical Cancer Symptoms in Swedish Clinical Text using a Machine Learning Approach and NegEx

PubMed Central

Weegar, Rebecka; Kvist, Maria; Sundström, Karin; Brunak, Søren; Dalianis, Hercules

2015-01-01

Detection of early symptoms in cervical cancer is crucial for early treatment and survival. To find symptoms of cervical cancer in clinical text, Named Entity Recognition is needed. In this paper the Clinical Entity Finder, a machine-learning tool trained on annotated clinical text from a Swedish internal medicine emergency unit, is evaluated on cervical cancer records. The Clinical Entity Finder identifies entities of the types body part, finding and disorder and is extended with negation detection using the rule-based tool NegEx, to distinguish between negated and non-negated entities. To measure the performance of the tools on this new domain, two physicians annotated a set of clinical notes from the health records of cervical cancer patients. The inter-annotator agreement for finding, disorder and body part obtained an average F-score of 0.677 and the Clinical Entity Finder extended with NegEx had an average F-score of 0.667. PMID:26958270

Finding Cervical Cancer Symptoms in Swedish Clinical Text using a Machine Learning Approach and NegEx.

PubMed

Weegar, Rebecka; Kvist, Maria; Sundström, Karin; Brunak, Søren; Dalianis, Hercules

2015-01-01

Detection of early symptoms in cervical cancer is crucial for early treatment and survival. To find symptoms of cervical cancer in clinical text, Named Entity Recognition is needed. In this paper the Clinical Entity Finder, a machine-learning tool trained on annotated clinical text from a Swedish internal medicine emergency unit, is evaluated on cervical cancer records. The Clinical Entity Finder identifies entities of the types body part, finding and disorder and is extended with negation detection using the rule-based tool NegEx, to distinguish between negated and non-negated entities. To measure the performance of the tools on this new domain, two physicians annotated a set of clinical notes from the health records of cervical cancer patients. The inter-annotator agreement for finding, disorder and body part obtained an average F-score of 0.677 and the Clinical Entity Finder extended with NegEx had an average F-score of 0.667.

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

PubMed Central

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

2012-01-01

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

Congenital Shunts of the Portal Venous System: Case-series of Uncommon Shunts.

PubMed

Santos, Liliana; Nobre, Susana; Laezza, Nadia; Cunha, Catarina; Gonçalves, Isabel; Lopes, Maria F

Congenital shunts of the portal venous system are rare entities that can present in children with clinical heterogeneity. To evaluate the clinical course of children with uncommon shunts presenting to our institution and examine the available literature on this topic. Medical records of children with rare forms of congenital shunts were retrospectively reviewed for demographics, symptoms, management, and outcome between 2003 and 2016. Three female patients with congenital shunts, including a congenital mesenterico-portal Rex shunt (n = 1) and congenital portosystemic shunts (CPSS) (n = 2), were referred for surgical evaluation between ages 4 and 9. Median follow-up was 8 years (range, 6-13 years). One asymptomatic patient did not require treatment and remained disease-free during long-term follow-up. The other 2 patients with CPSS and unusual symptoms, including liver focal nodular hyperplasia (FNH) in infancy (n = 1) and bleeding from esophageal varices (n = 1), showed subsequent progression to liver nodules that were managed by endovascular shunt occlusion. One patient showed symptom resolution and the other showed stable lesions at last follow-up. Literature yielded descriptions of two cases of congenital mesenterico-portal Rex shunt, one case of coincident CPSS and FNH in infancy, but zero reports of bleeding from esophageal varices. This case series examines each distinct patient's presentation, discusses the diagnosis, management and outcome and compares findings while discussing literature on this topic. A high index of suspicion and familiarity with unusual forms and treatment options is required to allow timely diagnosis and appropriate treatment.

Classical and unusual imaging appearances of melorheostosis.

PubMed

Suresh, S; Muthukumar, T; Saifuddin, A

2010-08-01

This comprehensive review will discuss the classical and unusual radiological features of melorheostosis, which is an uncommon, non-hereditary, benign, sclerosing mesodermal disease with an incidence of 0.9 cases per million. The presentation of melorheostosis in the appendicular skeleton (more commonly involved) and in the axial skeleton (very few documented case reports) will be discussed. The aim of the review is to illustrate the associations and rare, but recognized, complications of the disorder. The role of cross-sectional imaging in the form of magnetic resonance imaging (MRI) and computed tomography (CT) in revealing the spectrum of disease manifestation and differentiation from other disease entities and malignancy will be explored.

Ontology-based reusable clinical document template production system.

PubMed

Nam, Sejin; Lee, Sungin; Kim, James G Boram; Kim, Hong-Gee

2012-01-01

Clinical documents embody professional clinical knowledge. This paper shows an effective clinical document template (CDT) production system that uses a clinical description entity (CDE) model, a CDE ontology, and a knowledge management system called STEP that manages ontology-based clinical description entities. The ontology represents CDEs and their inter-relations, and the STEP system stores and manages CDE ontology-based information regarding CDTs. The system also provides Web Services interfaces for search and reasoning over clinical entities. The system was populated with entities and relations extracted from 35 CDTs that were used in admission, discharge, and progress reports, as well as those used in nursing and operation functions. A clinical document template editor is shown that uses STEP.

Pseudoangiomatous stromal hyperplasia causing massive breast enlargement

PubMed Central

Bourke, Anita Geraldine; Tiang, Stephen; Harvey, Nathan; McClure, Robert

2015-01-01

Pseudoangiomatous stromal hyperplasia (PASH) of the breast is a benign mesenchymal proliferative process, initially described by Vuitch et al. We report an unusual case of a 46-year-old woman who presented with a 6-week history of bilateral massive, asymmetrical, painful enlargement of her breasts, without a history of trauma. On clinical examination, both breasts were markedly enlarged and oedematous, but there were no discrete palpable masses. Preoperative image-guided core biopsies and surgery showed PASH. PASH is increasingly recognised as an incidental finding on image-guided core biopsy performed for screen detected lesions. There are a few reported cases of PASH presenting as rapid breast enlargement. In our case, the patient presented with painful, asymmetrical, massive breast enlargement. Awareness needs to be raised of this entity as a differential diagnosis in massive, painful breast enlargement. PMID:26475873

Portal vein aneurysm: What to know.

PubMed

Laurenzi, Andrea; Ettorre, Giuseppe Maria; Lionetti, Raffaella; Meniconi, Roberto Luca; Colasanti, Marco; Vennarecci, Giovanni

2015-11-01

Portal vein aneurysm is an unusual vascular dilatation of the portal vein, which was first described by Barzilai and Kleckner in 1956 and since then less than 200 cases have been reported. The aim of this article is to provide an overview of the international literature to better clarify various aspects of this rare nosological entity and provide clear evidence-based summary, when available, of the clinical and surgical management. A systematic literature search of the Pubmed database was performed for all articles related to portal vein aneurysm. All articles published from 1956 to 2014 were examined for a total of 96 reports, including 190 patients. Portal vein aneurysm is defined as a portal vein diameter exceeding 1.9 cm in cirrhotic patients and 1.5 cm in normal livers. It can be congenital or acquired and portal hypertension represents the main cause of the acquired version. Surgical indication is considered in case of rupture, thrombosis or symptomatic aneurysms. Aneurysmectomy and aneurysmorrhaphy are considered in patients with normal liver, while shunt procedures or liver transplantation are the treatment of choice in case of portal hypertension. Being such a rare vascular entity its management should be reserved to high-volume tertiary hepato-biliary centres. Copyright © 2015 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Ltd. All rights reserved.

[Aorto-bifermoral grafs infection due to Candida parapsilosis. An unusual pathogen].

PubMed

Guevara-Noriega, Kerbi Alejandro; Velescu, Alina; Zaffalon-Espinal, Diana Teresa; Mateos-Torres, Eduardo; Roig-Santamaría, Luis; Clará-Velasco, Albert

Aorto-enteric fistula is a rare and potentially lethal entity. Its presentation may be as an enteric-paraprosthetic fistula, due to injury in the gut caused by direct contact with the vascular prosthesis. We report a case of enteric-paraprosthetic fistulae with the unusual finding of Candida parapsilosis as the only isolated pathogen. A 65-year-old male, smoker, with aortobifemoral revascularisation with dacron due to aortoiliac occlusive disease, and re-intervention for thrombosis of left arm at 6 months. Hospitalisation at 22 months was required due to a toxic syndrome, which was diagnosed as enteric-paraprosthetic fistulae after complementary studies. The graft was removed and an extra-anatomic revascularisation was performed. Microbiology specimens taken from the duodenal segment in contact with the prosthesis showed the prosthetic segment and peri-prosthetic fluid were positive to C. parapsilosis. The finding of C. parapsilosis in all cultures taken during surgery, along with negative blood cultures and no other known sources of infection, is of interest. It is an unusual pathogen with low virulence and limited as regards other Candida species. Our patient had no clinical data common to cases of infection with C. parapsilosis, and the mechanism of graft infection is unknown. Graft infection by C. parapsilosis may be anecdotal. However, its consequences can also be severe. Microbiological tests can be useful to adjust antimicrobial therapy in the post-operative period, but their usefulness for determining the aetiology is doubtful, as it may be just an incidental finding. Copyright © 2016 Academia Mexicana de Cirugía A.C. Publicado por Masson Doyma México S.A. All rights reserved.

Primary extraskeletal myxoid chondrosarcoma of pulmonary arteries: a rare mimic of acute pulmonary thromboembolism.

PubMed

Gadabanahalli, Karthik; Belaval, Vinay V; Bhat, Venkatraman; Gorur, Imran M

2015-04-01

Primary extraskeletal myxoid chondrosarcoma of the pulmonary arteries is a very rare entity. Multimodality imaging reports on this entity are few. Myxoid chondrosarcoma is characterized by chondroid and neurogenic differentiation in extraskeletal locations. These tumours represent fewer than 2.5% of all soft-tissue sarcomas, and are most commonly found in the lower extremities, limb girdles, distal extremities and trunk. We report an unusual case of a 31-year old man with histopathologically proven extraskeletal myxoid chondrosarcoma of the pulmonary arteries mimicking acute pulmonary thromboembolism. © The Author 2015. Published by Oxford University Press on behalf of the European Association for Cardio-Thoracic Surgery. All rights reserved.

Central granular cell odontogenic tumor: Report of an unusual case.

PubMed

Madan, Mani; Chandra, Shaleen; Raj, Vineet; Madan, Rohit

2016-01-01

Central granular cell odontogenic tumor (CGCOT) is an unusual benign odontogenic neoplasm characterized by the presence of granular cells associated with apparently inactive odontogenic epithelium. These tumors tend to occur in the posterior mandible and usually present as well-defined unilocular or multilocular radiolucent lesions. So far, only <40 cases of CGCOT have been described in the literature under various terminologies. Though these tumors were not considered as distinct entity in the recent WHO classification of odontogenic tumors, long-term follow-up is recommended as malignant counterpart of CGCOT has already been reported. The main aim of this article is to report an additional case of CGCOT to the literature, occurring in a 73-year-old male.

Heterotopic salivary gland tissue: a case report demonstrating evolution and association with the branchial apparatus.

PubMed

Chang, Wen-Yu; Lee, Ka-Wo; Tsai, Kun-Bow; Chen, Gwo-Shing

2005-09-01

Heterotopic salivary gland tissue (HSGT) in the lower neck is an unusual developmental anomaly with characteristic clinical and microscopic findings. The exact embryogenesis remains unclear. This rare entity must be considered in the differential diagnosis of neck mass with fistula. We present a typical HSGT totally removed using the stepladder excision technique and showing an internal fistula. Interpretation of this case from the anatomical and pathological points of view, we support the argument that the embryogenesis of HSGT is more probably related to ectodermal heteroplasia of the precervical sinus of His and further conclude that an association with branchial cleft sinus may exist and cannot be seen as an exclusion criteria for diagnosis of HSGT. Due to possible but infrequent neoplastic transformation, it is important to check HSGT in every encountered cervical anomaly related to any branchial apparatus derived lesion.

Detection of Shigella sonnei in a respiratory specimen in a patient with subacute atypical pneumonia.

PubMed

Nahid, Hiwa; Staub, Désirée; Hächler, Herbert; Albrich, Werner C

2017-04-01

Pneumonia caused by shigellosis with or without typical dysentery in immunocompetent patients is an uncommon entity. We describe a case of pneumonia in an immunocompetent, previously healthy middle-aged man from Switzerland without relevant travel history which was presumably caused by Shigella sonnei. He was originally admitted for suspected lung cancer. The clinical picture was remarkable as the patient presented with cough and purulent sputum production, but otherwise no classical signs of pneumonia. Furthermore, there was no diarrhoeal episode in the recent history. It is an uncommon presentation of shigellosis in an immunocompetent person without underlying severe predisposing conditions. We report an unusual identification of S. sonnei as the only identified pathogen from respiratory specimens, which we therefore consider the most likely etiology of this subacute atypical pneumonia. This case illustrates the importance of a complete work-up in a patient whose suspected malignancy could not be proven.

Role of the Yersinia pestis yersiniabactin iron acquisition system in the incidence of flea-borne plague.

PubMed

Sebbane, Florent; Jarrett, Clayton; Gardner, Donald; Long, Daniel; Hinnebusch, B Joseph

2010-12-17

Plague is a flea-borne zoonosis caused by the bacterium Yersinia pestis. Y. pestis mutants lacking the yersiniabactin (Ybt) siderophore-based iron transport system are avirulent when inoculated intradermally but fully virulent when inoculated intravenously in mice. Presumably, Ybt is required to provide sufficient iron at the peripheral injection site, suggesting that Ybt would be an essential virulence factor for flea-borne plague. Here, using a flea-to-mouse transmission model, we show that a Y. pestis strain lacking the Ybt system causes fatal plague at low incidence when transmitted by fleas. Bacteriology and histology analyses revealed that a Ybt-negative strain caused only primary septicemic plague and atypical bubonic plague instead of the typical bubonic form of disease. The results provide new evidence that primary septicemic plague is a distinct clinical entity and suggest that unusual forms of plague may be caused by atypical Y. pestis strains.

Coexistence of amelanotic melanoma and liposarcoma.

PubMed

Jeong, Taek Jo; Lee, Eun Ju; Haw, Sik; Shin, Min Kyung; Haw, Choong Rim

2009-11-01

An amelanotic malignant melanoma is characterized by little or no pigment. It is frequently misdiagnosed because it is a rare entity in general, and because of its unusual clinical features. Liposarcoma is one of the most common adult soft tissue sarcomas. We encountered a case of amelanotic melanoma with a concurrent liposarcoma. A 68-year-old man presented with a single, 1.5x1.5 cm round erythematous, eroded nodule on the left heel. A biopsy specimen showed atypical, pleomorphic tumor cells with little melanin pigment. The tumor cells were positive for S-100, HMB-45 and negative for cytokeratins. These findings were consistent with amelanotic melanoma. On positron emission tomography/computed tomography (PET/CT), a hypermetabolic lesion was found in the left buttock. This lesion was excised and diagnosed as a well-differentiated liposarcoma. An association between sarcomas and other primary malignancies has been reported. However, an association between melanoma and liposarcoma is rare.

Adrenal haemangioblastoma presenting as phaeochromocytoma: a rare manifestation of extraneural hemangioblastoma.

PubMed

Deb, Prabal; Pal, Seerat; Dutta, Vibha; Srivastava, Anand; Bhargava, Akshay; Yadav, Krishan Kumar

2012-09-01

Adrenal haemangioblastoma presenting clinically as pheochromocytoma is a rare manifestation of extraneural haemangioblastoma. We present an unusual case of von Hippel-Lindau (VHL) disease that had adrenal and cerebellar haemangioblastoma with multiple renal cysts, and a review of the literature. Unlike the usual manifestations of secondary polycythemia or increased intracranial pressure and hydrocephalus due to cerebellar lesion, this 36-year-old male presented with hypertension. Investigations revealed right suprarenal mass with raised urinary catecholamines and serum vanillylmandelic acid (VMA) levels, apparently confirming the clinical diagnosis of phaeochromocytoma. Histopathology of the biopsy specimen showed features of haemangioblastoma, which was confirmed by immunohistochemistry using antibodies to neuron specific enolase and aquaporin-1. Based on this, the patient was screened for possible features of VHL, which revealed cerebellar haemangioblastoma and multiple renal cysts with angiomatous lesion. Postoperative follow-up showed normal levels of catecholamines without any symptoms of phaeochromocytoma. Adrenal haemangioblastoma is a rare entity with only four cases reported in the literature. Surgical removal is the treatment of choice. However, screening for other possible features of VHL, even in the absence of clinical features, is essential to exclude other potential lesions.

Non-Hodgkin's lymphoma is a pathological lead point causing large gut (colo-colic varity) intussusception.

PubMed

Saha, N; Ferdous, K N; Rahman, M A; Islam, M K

2012-04-01

Intussusception secondary to Primary Non-Hodgkin lymphoma presenting colo-colic variety is a very rare clinical entity and sometimes causing diagnostic dilemma due to non-specific, varied & wide spectrum presentation. In this study, a 9 years female child presented with recurrent, intermittent, colicky abdominal pain with occasional bilious vomiting, along with a left illiac fossa swelling & occasional per rectal bleeding and constipation for 3 months was clinically diagnosed as a case of recurrent obstructing intussusception. At laparotomy, a colo-colic intussusception with prolapsed intussusception was marked & finally on histopathology, she was diagnosed as a case of colo-colic variety of intussusception due to primary Non-Hodgkin lymphoma- a pathological lead point in mid transverse colon. After uneventful recovery of post operative period she was treated with combination chemotherapy accordingly & follow up was given up to 5 years. She had been found alright without any recurrence or organ involvement. The study focused on the avoidance of unusual delay in diagnosis as well as in proper management of rare variants of intussusception.

Osteoid producing primary lesion at morphologic and biologic interface.

PubMed

Sarkar, Reena Radhikaprasad

2015-01-01

Fibroosseous gnathic lesions comprise a wide spectrum of diseases. Many of the entities have overlapping features. A pediatric case is encountered with a complex clinicopathologic profile. Although radiographically the lesion appears benign but on histopathological examination it possesses features of osteoid producing aggressive neoplasm. This paper highlights the unusual histologic features existing within the spectrum of fibroosseous lesions and discusses relevant clinicopathologic correlations.

42 CFR 455.101 - Definitions.

Code of Federal Regulations, 2014 CFR

2014-10-01

..., independent clinical laboratory, renal disease facility, rural health clinic, or health maintenance... specified in § 438.2. Indirect ownership interest means an ownership interest in an entity that has an ownership interest in the disclosing entity. This term includes an ownership interest in any entity that has...

42 CFR 455.101 - Definitions.

Code of Federal Regulations, 2012 CFR

2012-10-01

..., independent clinical laboratory, renal disease facility, rural health clinic, or health maintenance... specified in § 438.2. Indirect ownership interest means an ownership interest in an entity that has an ownership interest in the disclosing entity. This term includes an ownership interest in any entity that has...

42 CFR 455.101 - Definitions.

Code of Federal Regulations, 2013 CFR

2013-10-01

..., independent clinical laboratory, renal disease facility, rural health clinic, or health maintenance... specified in § 438.2. Indirect ownership interest means an ownership interest in an entity that has an ownership interest in the disclosing entity. This term includes an ownership interest in any entity that has...

42 CFR 455.101 - Definitions.

Code of Federal Regulations, 2011 CFR

2011-10-01

..., independent clinical laboratory, renal disease facility, rural health clinic, or health maintenance... specified in § 438.2. Indirect ownership interest means an ownership interest in an entity that has an ownership interest in the disclosing entity. This term includes an ownership interest in any entity that has...

Chilblains in Southern California: two case reports and a review of the literature.

PubMed

Gordon, Rebecca; Arikian, Anne M; Pakula, Anita S

2014-11-22

Chilblains or perniosis is an acrally located cutaneous eruption that occurs with exposure to cold. Chilblains can be classified into primary and secondary forms. The primary or idiopathic form is not associated with an underlying disease and is clinically indistinguishable from the secondary form. The secondary form is associated with an underlying condition such as connective tissue disease, monoclonal gammopathy, cryoglobulinemia, or chronic myelomonocytic leukemia. Histopathology cannot accurately help distinguish the primary from secondary forms of chilblains. This article will raise the awareness of chilblains by presenting two unusual case reports of chilblains in men from Southern California with discussion of the appropriate evaluation and treatment of this condition. Case 1: A 56-year-old Caucasian man presented in January to a Southern California primary care clinic with a report of tingling and burning in both feet, followed by bluish discoloration and swelling as well as blistering. He had no unusual cold exposure prior to the onset of his symptoms. He had a history of "white attacks" in his hands consistent with Raynaud's phenomenon. His symptoms gradually resolved over a 3-week period. Case 2: A 53-year-old Caucasian man also presented to a Southern California clinic in January with a 3-week history of painful tingling in his toes, and subsequent purplish-black discoloration of the toes in both feet. His symptoms occurred 1 week after a skiing trip. He had partial improvement with warming measures. His symptoms resolved 2 weeks after his initial presentation. Chilblains is a relatively uncommon entity in warmer climates but can present during the winter months. Primary care providers in warmer climates such as Southern California in the USA may be unfamiliar with its presentation. It can be diagnosed clinically by the appearance of typical lesions during the cold damp season. Through a thorough history, physical examination and selected laboratory evaluation, underlying connective tissue disease or a mimic such as vasculitis or cutaneous leukemia can be excluded.

The value of the study of natural history in genetic disorders and congenital anomaly syndromes.

PubMed Central

Hall, J G

1988-01-01

The study of the natural history of genetic disorders and syndromes with congenital anomalies and dysmorphic features is a challenging and often neglected area. There are many reasons to pursue this type of research but it requires special clinical skills and a considerable amount of hard work. Setting up protocols and collecting data is complex and time consuming. Frequently, helpful clues for a particular disorder come from the study of the natural history of other disorders. Older affected subjects and unique cases with unusual features are often most important in unravelling the 'normal' course of a disease or recognising the basic defect. The study of natural history from individual patients and their records is complementary to population or registry based studies because it identifies individual variations and clinical heterogeneity. The understanding of the natural history of a particular disorder is of importance both to the affected person and their family and to the physicians caring for them. It is also useful to the basic researcher trying to determine the pathogenetic mechanism causing the disorder. In many ways, clinical geneticists have learned the art of caring for patients, as well as the challenges of clinical genetics, by becoming apprentices to and studying in depth specific disease entities. PMID:3050091

Massive ovarian oedema: a misleading clinical entity.

PubMed

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

2016-02-03

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

Unusual staphylococcal toxic shock syndrome presenting as a scarlet-like fever.

PubMed

Andrey, D O; Ferry, T; Siegenthaler, N; Fletcher, C; Calmy, A; Lina, G; Emonet, S

2015-11-01

Diagnosis of nonmenstrual staphylococcal toxic shock syndrome (TSS) is often challenging. A female medical colleague had a rare entity, a staphylococcal pharyngitis complicated by TSS. The diagnosis was confirmed by isolation of tst-positive Staphylococcus aureus in throat culture and by identification of a specific Vβ2 expansion pattern of her T lymphocytes. Recent improvements in microbiology can be of great help for the diagnosis of nonmenstrual TSS.

Metastatic squamous cell carcinoma thyroid from functionally cured cancer cervix

PubMed Central

Vamsy, Mohana; Dattatreya, Palanki Satya; Sarma, Lella Yugandhar; Dayal, Monal; Janardhan, Nandigam; Rao, Vatturi Venkata Satya Prabhakar

2013-01-01

The authors report a very unusual occurrence of a metastatic squamous carcinoma to thyroid gland from a treated squamous cell carcinoma cervix 12 years before with no recurrence at the primary site. The case also has an additional complexity of rapid progression of the metastatic thyroid carcinoma to wide spread dissemination to lungs and bones while on concurrent chemo radio therapy confirming the aggressiveness of the entity. PMID:24163519

Round cell sarcomas beyond Ewing: emerging entities.

PubMed

Antonescu, Cristina

2014-01-01

Primitive small blue round cell tumours (SBRCT) of childhood and young adults have been problematic to diagnose and classify. Diagnosis is also complicated in cases with atypical morphology, aberrant immunoprofiles and unusual clinical presentations. Even with the increased use of ancillary techniques in archival material, such as immunohistochemistry and molecular/genetic methods, a proportion of these tumours cannot be subclassified into specific histological types. A subset of tumours resembling microscopically the Ewing sarcoma family of tumours (EFT), being composed of primitive small round cells and occurring in paediatric or young adult age groups, remain unclassified, being negative for EWSR1, SS18(SYT), DDIT3(CHOP) and FOXO1(FKHR) gene rearrangements by FISH/RT-PCR. A small number of cases sharing the undifferentiated EFT appearance have been characterized recently carrying BCOR-CCNB3 or CIC-DUX4 fusions. However, based on the somewhat limited number of cases, it remains unclear if these newly defined genetic entities belong to any of the pre-existing clinicopathological disorders or represent altogether novel conditions. This review presents the latest molecular findings related to these SBRCTs, beyond the common EWSR1-ETS fusions. Specific attention has been paid to morphological features not associated typically with classic EFT, and the value of ancillary tests that can be applied when dealing with EWSR1-negative SBRCTs is discussed. © 2013 John Wiley & Sons Ltd.

Anatomical Entity Recognition with a Hierarchical Framework Augmented by External Resources

PubMed Central

Xu, Yan; Hua, Ji; Ni, Zhaoheng; Chen, Qinlang; Fan, Yubo; Ananiadou, Sophia; Chang, Eric I-Chao; Tsujii, Junichi

2014-01-01

References to anatomical entities in medical records consist not only of explicit references to anatomical locations, but also other diverse types of expressions, such as specific diseases, clinical tests, clinical treatments, which constitute implicit references to anatomical entities. In order to identify these implicit anatomical entities, we propose a hierarchical framework, in which two layers of named entity recognizers (NERs) work in a cooperative manner. Each of the NERs is implemented using the Conditional Random Fields (CRF) model, which use a range of external resources to generate features. We constructed a dictionary of anatomical entity expressions by exploiting four existing resources, i.e., UMLS, MeSH, RadLex and BodyPart3D, and supplemented information from two external knowledge bases, i.e., Wikipedia and WordNet, to improve inference of anatomical entities from implicit expressions. Experiments conducted on 300 discharge summaries showed a micro-averaged performance of 0.8509 Precision, 0.7796 Recall and 0.8137 F1 for explicit anatomical entity recognition, and 0.8695 Precision, 0.6893 Recall and 0.7690 F1 for implicit anatomical entity recognition. The use of the hierarchical framework, which combines the recognition of named entities of various types (diseases, clinical tests, treatments) with information embedded in external knowledge bases, resulted in a 5.08% increment in F1. The resources constructed for this research will be made publicly available. PMID:25343498

Color obsessions and phobias in autism spectrum disorders: the case of J.G.

PubMed

Ludlow, Amanda K; Heaton, Pamela; Hill, Elisabeth; Franklin, Anna

2014-06-01

The current study is the first investigation of color 'obsessions' and 'phobias' in ASD. We investigate the color perception and cognition of J.G., a boy with ASD who has a strong obsession with blue, and a strong phobia of other colors. J.G.'s performance on a series of color tasks (color-entity association; chromatic discrimination; color classification) is compared to 13 children with and without autism who do not have color obsessions or phobias. The findings lead to the formalization of two hypotheses: (i) color obsessions and phobias in individuals with ASD are related to an unusually strong ability to associate colors with entities; (ii) color obsessions are related to hyposensitivity, and color phobias to hypersensitivity, in the affected regions of color space.

An initial MRI picture of limbic encephalitis in subacute sclerosing panencephalitis.

PubMed

Lebon, Sébastien; Maeder, Philippe; Maeder-Ingvar, Malin; Poloni, Claudia; Mayor-Dubois, Claire; Roulet-Perez, Eliane; Jeannet, Pierre-Yves

2011-11-01

Subacute sclerosing panencephalitis (SSPE) is a rare and severe long-term complication of measles. Hallmarks of this entity include progressive cognitive decline, myoclonia, a generalized periodic pattern on EEG and deep white matter abnormalities on MRI. However, imaging can be normal in early stages. We report herein the case of a previously healthy 13-years-old girl with an unusual radiological presentation. She presented with unilateral myoclonia, cognitive decline with memory impairment and a first brain MRI with swelling of both hippocampi mimicking limbic encephalitis. Measles antibodies were positive in CSF and the EEG showed slow periodic complexes. This unusual radiological presentation has never been described in SSPE. Relationship between virus and limbic system are discussed. Copyright © 2011 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

Spontaneous Bilateral Vertebral Artery Dissection During a Basketball Game

PubMed Central

Mas Rodriguez, Manuel F.; Berrios, Rafael Arias; Ramos, Edwardo

2016-01-01

Spontaneous vertebral artery dissection accounts for 2% of all ischemic strokes and can occur as a consequence of sports events. We present an unusual case of spontaneous bilateral vertebral artery dissection in a 30-year-old male patient during a basketball game. He developed severe dysphagia, right hemiparesis, and balance dysfunction. We also present a review of the pathology, diagnosis, symptomatology, treatment, prognosis, and occurrence of this entity in sports. PMID:26733592

A "crick" in the neck followed by massage offered him a stroke: An uncommon case of vertebral artery dissection.

PubMed

Dutta, Gautam; Jagetia, Anita; Srivastava, Arvind K; Singh, Daljit; Singh, Hukum; Saran, Ravindra K

2018-04-10

We present an unusual case of vertebral artery dissection in a 30-year-old male patient following an episode of neck massage. He developed headache, nausea, vomiting, blurred vision, diplopia, dizziness, and ataxia following the procedure. We also discuss a review of the pathology, diagnosis, symptomatology, treatment, prognosis, and occurrence of this rare entity. Copyright © 2018 Elsevier Inc. All rights reserved.

Asymptomatic hyperthyroidism in older adults: is it a distinct clinical and laboratory entity?

PubMed

Mooradian, Arshag D

2008-01-01

Hyperthyroidism is the result of increased serum free thyroid hormone levels and is associated with a well recognized set of clinical signs and symptoms. However, older patients who develop hyperthyroidism tend to have fewer hyperadrenergic signs and an increased incidence of weight loss, cardiac arrhythmias and, occasionally, apathetic mood. This article highlights the paucity of clinical signs and symptoms of hyperthyroidism in older people and reviews the potential biochemical changes in thyroid hormone physiology that may account for an altered clinical presentation in older people with hyperthyroidism. First, a brief vignette from our own clinical practice is described to highlight an unusual presentation of hyperthyroidism in an older woman. The subject is then reviewed on the basis of relevant articles identified through a MEDLINE search of the English literature, using the key words 'hyperthyroidism' and 'aging'. The available evidence indicates that the clinical syndrome of asymptomatic hyperthyroidism in older adults appears to be distinct from the more widely recognized syndromes of apathetic hyperthyroidism or thyroid hormone resistance. Age-related changes in thyroid hormone economy and reduced cellular uptake of thyroid hormone as well as changes in thyroid hormone regulation of gene expression may account for reduced manifestations of hyperthyroidism in older adults. Thus, in addition to the well known changes in thyroid gland anatomy and function with aging, there may be an age-related resistance to thyroid hormone action. Asymptomatic hyperthyroidism may well be a syndrome that is currently under-diagnosed.

Automatic recognition of disorders, findings, pharmaceuticals and body structures from clinical text: an annotation and machine learning study.

PubMed

Skeppstedt, Maria; Kvist, Maria; Nilsson, Gunnar H; Dalianis, Hercules

2014-06-01

Automatic recognition of clinical entities in the narrative text of health records is useful for constructing applications for documentation of patient care, as well as for secondary usage in the form of medical knowledge extraction. There are a number of named entity recognition studies on English clinical text, but less work has been carried out on clinical text in other languages. This study was performed on Swedish health records, and focused on four entities that are highly relevant for constructing a patient overview and for medical hypothesis generation, namely the entities: Disorder, Finding, Pharmaceutical Drug and Body Structure. The study had two aims: to explore how well named entity recognition methods previously applied to English clinical text perform on similar texts written in Swedish; and to evaluate whether it is meaningful to divide the more general category Medical Problem, which has been used in a number of previous studies, into the two more granular entities, Disorder and Finding. Clinical notes from a Swedish internal medicine emergency unit were annotated for the four selected entity categories, and the inter-annotator agreement between two pairs of annotators was measured, resulting in an average F-score of 0.79 for Disorder, 0.66 for Finding, 0.90 for Pharmaceutical Drug and 0.80 for Body Structure. A subset of the developed corpus was thereafter used for finding suitable features for training a conditional random fields model. Finally, a new model was trained on this subset, using the best features and settings, and its ability to generalise to held-out data was evaluated. This final model obtained an F-score of 0.81 for Disorder, 0.69 for Finding, 0.88 for Pharmaceutical Drug, 0.85 for Body Structure and 0.78 for the combined category Disorder+Finding. The obtained results, which are in line with or slightly lower than those for similar studies on English clinical text, many of them conducted using a larger training data set, show that the approaches used for English are also suitable for Swedish clinical text. However, a small proportion of the errors made by the model are less likely to occur in English text, showing that results might be improved by further tailoring the system to clinical Swedish. The entity recognition results for the individual entities Disorder and Finding show that it is meaningful to separate the general category Medical Problem into these two more granular entity types, e.g. for knowledge mining of co-morbidity relations and disorder-finding relations. Copyright © 2014 The Authors. Published by Elsevier Inc. All rights reserved.

[Autoimmune lymphoproliferative syndrome].

PubMed

Rodrigues, Vera; Conde, Marta; Figueiredo, António; Vasconcelos, Júlia; Dias, Alexandra

2011-01-01

The Autoimmune Lymphoproliferative Syndrome (ALPS) is an impairment of lymphocyte apoptosis expressed by generalized non-malignant lymphoproliferation, lymphadenopathy and/or splenomegaly. This article describes a seven and 14 year old males. The first one was admitted at 3 years of age with fever, bicytopenia and generalized lymphadenopathy. Hystopathological analysis of lymph nodes showed reactive follicular hyperplasia and marked paracortical expansion. He was readmitted three years later presenting herpes zoster and similar clinical features. High levels of IL-10 and increasing tendency of Fas-L in plasma and serum. The second child was admitted at 13 years of age presenting thigh and gluteus cellulitis, anemia and neutropenia. T lymphocytes aß+CD4-CD8- 3,1%. Hystopathological analysis of lymph nodes showed marked paracortical hyperplasia. Both children are treated with mycophenolate mofetil with good response. ALPS is an underestimated entity that must be considered in non malign lymphoproliferation, autoimmunity and expansion of an unusual population of a/ßCD3+CD4-CD8-(double-negative T cells>1%).

[Tuberculous abscess of the thoracic wall secondary to nodular tuberculosis: Atypical presentation in an older adult].

PubMed

Cajuste-Sequeira, Fritz; Bueno-Wong, Juan Luis; Rosas-Carrasco, Óscar; González-Vergara, Carolina; Bieletto-Trejo, Olivia

2017-01-01

Tuberculosis (tb) of the chest wall is uncommon and it represents less than 5% of all cases of musculoskeletal tb and only 1-2% of tb. We present the case of an elderly woman with tb of the chest wall secondary to a nodal tb with an unusual presentation. The diagnosis of this entity is difficult because the disease often mimics other diseases such as pyogenic abscess, chest wall.

[Asperger syndrome associated with macrosomia and sexual identity disorder].

PubMed

Fleta Zaragozano, J; Zapata Usábel, M; López Moreno, María J; Olivares López, J L

2005-10-01

Asperger Syndrome is a pervasive developmental disorder of unknown origin, characterized by pedantic language, lack of reciprocity in social interactions, unusual interests, motor clumsiness and normal or above average intelligence quotient, among other symptoms. Since 1994 it has been defined as a specific entity. We describe the case of a boy with this syndrome, with elevated body weight and height and sexual identity disorder. These alterations have not previously been described in the scientific literature on Asperger syndrome.

Spinal cheiro-oral syndrome: a common neurological entity in an unusual site.

PubMed

Lin, Hung-Sheng; Yin, Hsin-Ling; Chui, Chi; Lui, Chun-Chung; Chen, Wei-Hsi

2011-01-01

Cheiro-oral syndrome (COS) is an established neurological entity characterized by a sensory impairment confined to the mouth angle and ipsilateral finger(s)/ hand. The current understanding of localization is a concomitant involvement of the spinothalamic and trigeminothalamic tract between the cortex and pons. The cervical spinal cord has not been mentioned in this situation yet, and this unusual location may heretofore increase the risk of misdiagnosis. Six patients who presented with unilateral COS due to cervical cord disorder are reported. All patients were women and their age ranged between 42 and 70 years. Their neurological deficits included unilateral paraesthesiae restricted to cheirooral distribution, positive radicular sign, and mild change of tendon reflex. Cervical spinal stenosis at middle/lower cervical spine with variable magnitude of cord compression and intrinsic cord damage was found. A diagnostic dilemma obviously arises from the lack of tangible neurological signs or typical pattern of myelopathy, in addition to the previous concept of cerebral involvement. A benign course ensued in all reported patients. Cheiro-oral syndrome can be an early neurological sign for cervical cord disorder; it further suggests that it is a strong neurological but weak localizing sign. A reciprocal influence of multiple factors is considered to generate COS at the cervical cord. Therefore, an absence of brain pathology should lead to a thorough examination of the cervical cord in case of COS.

Perivascular epithelioid cell tumor (PEComa) of the cheek.

PubMed

Ghazali, Naseem; Cascarini, Luke; Norris, Paul; Barrett, A W; Lavery, Kenneth M

2010-07-01

We present the unusual case of a perivascular epithelioid cell tumor (PEComa) occurring within the cheek of a 32-year-old woman. PEComa is a rare, recently described, family of tumors with diverse clinicopathologic expression and which express melanocytic and muscle markers. It mainly affects the abdominopelvic region and rarely occurs in somatic soft tissue or skin. To our knowledge, this is the first reported case of PEComa occurring in the facial cutaneous tissues. Other possible diagnoses considered included benign mesenchymal tumors of smooth muscle or neural origin. However, the cytomorphologic and immunohistochemical profile were most suggestive of PEComa. The tumor was completely excised, but in view of uncertainty as to how this entity would behave in an unusual location, lifelong follow up is recommended. After complete excision, there was no recurrence in 4 years. Copyright (c) 2010 Mosby, Inc. All rights reserved.

5 CFR 890.1003 - Definitions.

Code of Federal Regulations, 2012 CFR

2012-01-01

... a physician, hospital, clinic, or other individual or entity that, directly or indirectly, furnishes... Administrative Personnel OFFICE OF PERSONNEL MANAGEMENT (CONTINUED) CIVIL SERVICE REGULATIONS (CONTINUED) FEDERAL... and equipment; and hospitals, clinics, or other institutional entities that furnish supplies and...

5 CFR 890.1003 - Definitions.

Code of Federal Regulations, 2014 CFR

2014-01-01

... a physician, hospital, clinic, or other individual or entity that, directly or indirectly, furnishes... Administrative Personnel OFFICE OF PERSONNEL MANAGEMENT (CONTINUED) CIVIL SERVICE REGULATIONS (CONTINUED) FEDERAL... and equipment; and hospitals, clinics, or other institutional entities that furnish supplies and...

5 CFR 890.1003 - Definitions.

Code of Federal Regulations, 2011 CFR

2011-01-01

... a physician, hospital, clinic, or other individual or entity that, directly or indirectly, furnishes... Administrative Personnel OFFICE OF PERSONNEL MANAGEMENT (CONTINUED) CIVIL SERVICE REGULATIONS (CONTINUED) FEDERAL... and equipment; and hospitals, clinics, or other institutional entities that furnish supplies and...

5 CFR 890.1003 - Definitions.

Code of Federal Regulations, 2013 CFR

2013-01-01

... a physician, hospital, clinic, or other individual or entity that, directly or indirectly, furnishes... Administrative Personnel OFFICE OF PERSONNEL MANAGEMENT (CONTINUED) CIVIL SERVICE REGULATIONS (CONTINUED) FEDERAL... and equipment; and hospitals, clinics, or other institutional entities that furnish supplies and...

General Information about Unusual Cancers of Childhood

MedlinePlus

... Cancers of Childhood Treatment (PDQ®)–Patient Version General Information About Unusual Cancers of Childhood Go to Health ... the PDQ Pediatric Treatment Editorial Board . Clinical Trial Information A clinical trial is a study to answer ...

Unusual cardiac paraganglioma mimicking an atypical carcinoid tumor of the lung

PubMed Central

Evans, Mark; Wang, Beverly; Delrosario, J. Lawrence; Cheng, Timmy; Milliken, Jeffrey

2018-01-01

We present a case of unusual cardiac paraganglioma (PG) initially misdiagnosed as atypical carcinoid tumor of the lung and discuss key clinical and pathologic characteristics that guide surgical management of these rare chromaffin cell tumors. A 64-year-old female with persistent cough and back pain was found to have a 4 cm × 3 cm mass abutting multiple cardiopulmonary structures. A biopsy was performed at an outside institution and pathology reported “atypical neuroendocrine carcinoma, consistent with carcinoid”. The patient was transferred to our institution and pericardial resection with right pneumonectomy was performed to excise the tumor. Histology of the mass was that of PG with multiple ethanol embolizations. Immunohistochemical examination revealed that type I (chief) cells were positive for neuroendocrine markers (chromogranin A and synaptophysin), while type II (sustentacular) cells were positive for S100. There was no evidence of atypical carcinoid tumor in the lung. PG is an entity of chromaffin cell tumors that often affects the adrenal glands and carotid body. PG rarely occurs in the thoracic region, accounting for just 1–2% of all PG. Proper diagnosis of cardiac PG is challenging owing to its rare prevalence, subtle symptoms of presentation, and the neuroendocrine histopathological features it shares with atypical carcinoids. These tumors are typically benign and are best treated by surgical resection. Our report examines the approach to appropriate diagnosis of cardiac PG vs. atypical carcinoid, preoperative management, and surgical treatment by describing successful resection through thoracotomy without the use of cardiopulmonary bypass. PMID:29600100

Primary Renal Hybrid Low-grade Fibromyxoid Sarcoma-Sclerosing Epithelioid Fibrosarcoma: An Unusual Pediatric Case With EWSR1-CREB3L1 Fusion.

PubMed

Mok, Yingting; Pang, Yin Huei; Sanjeev, Jain Sudhanshi; Kuick, Chik Hong; Chang, Kenneth Tou-En

2018-01-01

Low-grade fibromyxoid sarcoma (LGFMS) and sclerosing epithelioid fibrosarcoma (SEF) are rare tumors with distinct sets of morphological features, both characterized by MUC4 immunoreactivity. Tumors exhibiting features of both entities are considered hybrid LGFMS-SEF lesions. While the majority of LGFMS cases are characterized by FUS-CREB3L2 gene fusions, most cases of pure SEF show EWSR1 gene rearrangements. In the largest study of hybrid LGFMS-SEF tumors to date, all cases exhibited FUS rearrangements, a similar genetic profile to LGFMS. We herein describe the clinicopathological features and genetic findings of a case of primary renal hybrid LGFMS-SEF occurring in a 10-year-old child, with disseminated metastases. Fusion gene detection using a next-generation sequencing-based anchored multiplex PCR technique (Archer FusionPlex Sarcoma Panel) was performed on both the primary renal tumor that showed the morphology of a LGFMS, and a cervical metastasis that showed the morphology of SEF. An EWSR1-CREB3L1 gene fusion occurring between exon 11 of EWSR1 and exon 6 of CREB3L1 was present in both the LGFMS and SEF components. This unusual case provides evidence that a subset of hybrid LGFMS-SEF harbor EWSR1-CREB3L1 gene fusions. In this case, these features were associated with an aggressive clinical course, with disease-associated mortality occurring within 12 months of diagnosis.

Unsupervised Biomedical Named Entity Recognition: Experiments with Clinical and Biological Texts

PubMed Central

Zhang, Shaodian; Elhadad, Nóemie

2013-01-01

Named entity recognition is a crucial component of biomedical natural language processing, enabling information extraction and ultimately reasoning over and knowledge discovery from text. Much progress has been made in the design of rule-based and supervised tools, but they are often genre and task dependent. As such, adapting them to different genres of text or identifying new types of entities requires major effort in re-annotation or rule development. In this paper, we propose an unsupervised approach to extracting named entities from biomedical text. We describe a stepwise solution to tackle the challenges of entity boundary detection and entity type classification without relying on any handcrafted rules, heuristics, or annotated data. A noun phrase chunker followed by a filter based on inverse document frequency extracts candidate entities from free text. Classification of candidate entities into categories of interest is carried out by leveraging principles from distributional semantics. Experiments show that our system, especially the entity classification step, yields competitive results on two popular biomedical datasets of clinical notes and biological literature, and outperforms a baseline dictionary match approach. Detailed error analysis provides a road map for future work. PMID:23954592

A study of machine-learning-based approaches to extract clinical entities and their assertions from discharge summaries.

PubMed

Jiang, Min; Chen, Yukun; Liu, Mei; Rosenbloom, S Trent; Mani, Subramani; Denny, Joshua C; Xu, Hua

2011-01-01

The authors' goal was to develop and evaluate machine-learning-based approaches to extracting clinical entities-including medical problems, tests, and treatments, as well as their asserted status-from hospital discharge summaries written using natural language. This project was part of the 2010 Center of Informatics for Integrating Biology and the Bedside/Veterans Affairs (VA) natural-language-processing challenge. The authors implemented a machine-learning-based named entity recognition system for clinical text and systematically evaluated the contributions of different types of features and ML algorithms, using a training corpus of 349 annotated notes. Based on the results from training data, the authors developed a novel hybrid clinical entity extraction system, which integrated heuristic rule-based modules with the ML-base named entity recognition module. The authors applied the hybrid system to the concept extraction and assertion classification tasks in the challenge and evaluated its performance using a test data set with 477 annotated notes. Standard measures including precision, recall, and F-measure were calculated using the evaluation script provided by the Center of Informatics for Integrating Biology and the Bedside/VA challenge organizers. The overall performance for all three types of clinical entities and all six types of assertions across 477 annotated notes were considered as the primary metric in the challenge. Systematic evaluation on the training set showed that Conditional Random Fields outperformed Support Vector Machines, and semantic information from existing natural-language-processing systems largely improved performance, although contributions from different types of features varied. The authors' hybrid entity extraction system achieved a maximum overall F-score of 0.8391 for concept extraction (ranked second) and 0.9313 for assertion classification (ranked fourth, but not statistically different than the first three systems) on the test data set in the challenge.

An unusual case of spontaneous esophagopleural fistula.

PubMed

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

2017-01-01

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

An unusual case of spontaneous esophagopleural fistula

PubMed Central

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

2017-01-01

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

Osteoradionecrosis of the olecranon: treatment by radial forearm flap

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

Thornton, J.W.; Stevenson, T.R.; VanderKolk, C.A.

1987-12-01

Osteoradionecrosis of the olecranon is an unusual pathologic entity, treated best by debridement and wound closure using vascularized tissue. Local skin is often unavailable for flap design and transposition. The radial forearm flap can be isolated on a proximal vascular pedicle and transposed to cover the wound. In the case presented, healing was brisk and complete, allowing early elbow mobilization. Although the donor site is not easily concealed, no functional impairment results from flap elevation and all full-thickness wounds are confined to the involved extremity.

42 CFR 420.201 - Definitions.

Code of Federal Regulations, 2014 CFR

2014-10-01

... provider of services, an independent clinical laboratory, a renal disease facility, a rural health clinic..., common supporting staff, or common equipment). Indirect ownership interest means any ownership interest in an entity that has an ownership interest in the disclosing entity. The term includes an ownership...

42 CFR 420.201 - Definitions.

Code of Federal Regulations, 2012 CFR

2012-10-01

... provider of services, an independent clinical laboratory, a renal disease facility, a rural health clinic..., common supporting staff, or common equipment). Indirect ownership interest means any ownership interest in an entity that has an ownership interest in the disclosing entity. The term includes an ownership...

42 CFR 420.201 - Definitions.

Code of Federal Regulations, 2013 CFR

2013-10-01

... provider of services, an independent clinical laboratory, a renal disease facility, a rural health clinic..., common supporting staff, or common equipment). Indirect ownership interest means any ownership interest in an entity that has an ownership interest in the disclosing entity. The term includes an ownership...

The Relationship between Clinical Presentation and Unusual Sensory Interests in Autism Spectrum Disorders: A Preliminary Investigation

ERIC Educational Resources Information Center

Zachor, Ditza A.; Ben-Itzchak, Esther

2014-01-01

Unusual responses to sensory stimuli have been described in autism spectrum disorder (ASD).The study examined the frequencies of "unusual sensory interests" and "negative sensory responses" and their relation to functioning in a large ASD population (n = 679). Having "unusual sensory interests" was reported in 70.4%…

Cytomorphology of unusual infectious entities in the Pap test

PubMed Central

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

2012-01-01

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

Named Entity Recognition in Chinese Clinical Text Using Deep Neural Network.

PubMed

Wu, Yonghui; Jiang, Min; Lei, Jianbo; Xu, Hua

2015-01-01

Rapid growth in electronic health records (EHRs) use has led to an unprecedented expansion of available clinical data in electronic formats. However, much of the important healthcare information is locked in the narrative documents. Therefore Natural Language Processing (NLP) technologies, e.g., Named Entity Recognition that identifies boundaries and types of entities, has been extensively studied to unlock important clinical information in free text. In this study, we investigated a novel deep learning method to recognize clinical entities in Chinese clinical documents using the minimal feature engineering approach. We developed a deep neural network (DNN) to generate word embeddings from a large unlabeled corpus through unsupervised learning and another DNN for the NER task. The experiment results showed that the DNN with word embeddings trained from the large unlabeled corpus outperformed the state-of-the-art CRF's model in the minimal feature engineering setting, achieving the highest F1-score of 0.9280. Further analysis showed that word embeddings derived through unsupervised learning from large unlabeled corpus remarkably improved the DNN with randomized embedding, denoting the usefulness of unsupervised feature learning.

Pelvic abscess associated with a Lippes loop. An unusual case.

PubMed

Hochner-Celnikier, D; Milwidsky, A; Menashe, M; Ariel, I; Palti, Z

1983-08-01

An unusual case occurred of Lippes-Loop-associated pelvic abscess, characterized by a relatively mild clinical course and an unusual localization in the pelvis. This case emphasizes the importance of considering the association between intrauterine devices and pelvic abscess.

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

PubMed

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

2014-05-01

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

Rare cancers: a sea of opportunity.

PubMed

Boyd, Niki; Dancey, Janet E; Gilks, C Blake; Huntsman, David G

2016-02-01

Rare cancers, as a collective, account for around a quarter of all cancer diagnoses and deaths. Historically, they have been divided into two groups: cancers defined by their unusual histogenesis (cell of origin or differentiation state)--including chordomas or adult granulosa cell tumours--and histologically defined subtypes of common cancers. Most tumour types in the first group are still clinically and biologically relevant, and have been disproportionately important as sources of insight into cancer biology. By contrast, most of those in the second group have been shown to have neither defining molecular features nor clinical utility. Omics-based analyses have splintered common cancers into a myriad of molecularly, rather than histologically, defined subsets of common cancers, many of which have immediate clinical relevance. Now, almost all rare cancers are either histomolecular entities, which often have pathognomonic mutations, or molecularly defined subsets of more common cancers. The presence of specific genetic variants provides rationale for the testing of targeted drugs in rare cancers. However, in addition to molecular alterations, it is crucial to consider the contributions of both mutation and cell context in the development, biology, and behaviour of these cancers. Patients with rare cancers are disadvantaged because of the challenge of leading clinical trials in this setting due to poor accrual. However, the number of patients with rare cancers will only increase as more molecular subsets of common cancers are identified, necessitating a shift in the focus of clinical trials and research into these cancer types, which, by epidemiological definitions, will become rare tumours. Copyright © 2016 Elsevier Ltd. All rights reserved.

Alice in Wonderland Syndrome, Burning Mouth Syndrome, Cold Stimulus Headache, and HaNDL: Narrative Review.

PubMed

Valença, Marcelo M; de Oliveira, Daniella A; Martins, Hugo André de L

2015-10-01

Unusual headache syndromes are not as infrequent in clinical practice as was generally believed. About three fourths of the classified headache disorders found in the ICHD-II can be considered rare. The aim of this narrative review was to perform a literature review of the pathophysiology, clinical presentation, diagnostic criteria, and treatment of the following unusual headache disorders: Alice in Wonderland syndrome, burning mouth syndrome, cold stimulus headache, and the syndrome of transient headache and neurologic deficits with cerebrospinal fluid lymphocytosis. A literature review was performed using PubMed for each of the abovementioned headache disorders. The unusual headache syndromes as a distinct group of disorders are not as infrequent in clinical practice as was generally believed. Some of them, albeit considered as unusual, may occur with relative frequency, such as cold stimulus headache and burning mouth syndrome. © 2015 American Headache Society.

[Autoimmune/inflammatory syndrome induced by adjuvants. A new clinical entity?

PubMed

Ferrer-Cosme, Belkis; Téllez-Martínez, Damiana; Batista-Duharte, Alexander

2017-01-01

Recently Shoenfeld and Agmon-Levin proposed a new clinical entity called autoimmune/inflammatory syndrome induced by adjuvants (ASIA), which includes four clinical entities called: 1) siliconosis, 2) Gulf War syndrome, 3) macrophage myofasciitis) and 4) post-vaccination phenomenon associated with adjuvants. They all have a common denominator: a prior exposure to immunoadjuvants, and, in addition, they also share several clinical criteria associated to chronic inflammation and autoimmune reactions. This proposal still needs to be validated by the scientific community, but nowadays is a topic of hot discussion in the literature and in various international conferences. In this revision article, we analyze the characteristics of this syndrome, the current mechanisms possibly involved in the pathogenesis, and the more recent reports regarding ASIA associated to vaccine and some foreign substances.

Advances in the understanding and clinical management of mastocytosis and clonal mast cell activation syndromes

PubMed Central

2016-01-01

Clonal mast cell activation syndromes and indolent systemic mastocytosis without skin involvement are two emerging entities that sometimes might be clinically difficult to distinguish, and they involve a great challenge for the physician from both a diagnostic and a therapeutic point of view. Furthermore, final diagnosis of both entities requires a bone marrow study; it is recommended that this be done in reference centers. In this article, we address the current consensus and guidelines for the suspicion, diagnosis, classification, treatment, and management of these two entities. PMID:27909577

Advances in the understanding and clinical management of mastocytosis and clonal mast cell activation syndromes.

PubMed

González-de-Olano, David; Matito, Almudena; Orfao, Alberto; Escribano, Luis

2016-01-01

Clonal mast cell activation syndromes and indolent systemic mastocytosis without skin involvement are two emerging entities that sometimes might be clinically difficult to distinguish, and they involve a great challenge for the physician from both a diagnostic and a therapeutic point of view. Furthermore, final diagnosis of both entities requires a bone marrow study; it is recommended that this be done in reference centers. In this article, we address the current consensus and guidelines for the suspicion, diagnosis, classification, treatment, and management of these two entities.

Papillary tumor of the pineal region: two case studies and a review of the literature.

PubMed

Rickard, Kyle A; Parker, John R; Vitaz, Todd W; Plaga, Alexis R; Wagner, Stephanie; Parker, Joseph C

2011-01-01

Papillary tumor of the pineal region (PTPR) is a newly recognized distinct entity in the 2007 World Health Organization nomenclature. This tumor is characterized by epithelial-appearing areas with papillary features and more densely cellular areas that often display ependymal-like differentiation. Ultrastructurally, this rare neuroepithelial tumor possesses neuroendocrine, secretory, and ependymal organelles that likely originate from the subcommissural organ (SCO) near the aqueduct of Sylvius. To date, approximately fifty-seven described cases worldwide have been recognized, with ages ranging from 5 years to 66 years (mean age=32 years). Clinical presentation most often includes headache and obstructive hydrocephalus. The tumor, which is well circumscribed, may be cystic and radiographically is often considered to be consistent with the findings of a pineocytoma. Microscopic evaluation often demonstrates a lesion with papillary areas lined by epithelioid tumor cells with eosinophilic cytoplasm and more cellular areas with cells exhibiting clear or vacuolated cytoplasm. Perivascular and true rosettes may be identified. Distinctive immunohistochemical features including reactivity for keratins (AE1/AE3, CAM 5.2, CK18) and only focal GFAP staining help distinguish this neoplasm from an ependymoma. The relative paucity of data compiled for this tumor makes giving an accurate diagnosis and prognosis a daunting task. We discuss two additional cases of PTPR that presented to us within a three-month span in order to more fully elucidate the possible presentations of this rare entity. Furthermore, we examine now 59 reported cases of PTPR in order to review the current diagnostic and treatment modalities in addition to exploring emerging research encompassing this unusual neoplasm.

AL Amyloidoma of the Skin/Subcutis: Cutaneous Amyloidosis, Plasma Cell Dyscrasia or a Manifestation of Primary Cutaneous Marginal Zone Lymphoma?

PubMed

Walsh, Noreen M; Lano, Ian Marie; Green, Peter; Gallant, Christopher; Pasternak, Sylvia; Ly, Thai Yen; Requena, Luis; Kutzner, Heinz; Chott, Andreas; Cerroni, Lorenzo

2017-08-01

It is unclear whether AL amyloidoma of the skin/subcutis represents a distinct entity, an indolent precursor of systemic amyloidosis, or a manifestation of cutaneous marginal zone lymphoma (cMZL). We collected 10 cases of cutaneous AL amyloidoma in order to better characterize the clinicopathologic features of this elusive entity (M:F=4:6; median age: 62.5 y, range: 31 to 82 y). Nine patients had a solitary nodule or plaque on the lower extremity (n=7), upper extremity (n=1), or chin (n=1). One patient had an AL amyloidoma on the right thigh and a second lesion on the right arm showing histopathologic features of cMZL without amyloid deposits. Clinical investigations excluded relevant systemic disease in all cases. Microscopically, dermal/subcutaneous deposits of amyloid were associated with sparse to moderate perivascular infiltrates of lymphocytes and monotypic plasma cells (7 with kappa and 3 with lambda light chain restriction). The plasma cells expressed CD56 in one of 9 studied cases. One case was characterized by a t(14;18)(q32;q21)/IGH-MALT1 translocation. Follow-up was available in 8 cases. All remain systemically well after a median time of 86.5 months (range: 40 to 144 mo). Local recurrence of disease was observed in 3 patients. A fourth patient presented with a cMZL without amyloid deposits 8 years after excision of the cutaneous AL amyloidoma. Although our series is small, careful categorization and follow-up of the cases, together with updated information in the literature, show clinical and biological links between AL amyloidomas of the skin/subcutis and cMZL, suggesting that at least a subset of cutaneous AL amyloidoma may represent an unusual manifestation of cMZL (cutaneous mucosa-associated lymphoid tissue lymphomas).

Spontaneous radial nerve palsy subsequent to non-traumatic neuroma.

PubMed

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

2013-09-01

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

Capgras syndrome associated with limbic encephalitis in a patient with diffuse large B-cell lymphoma

PubMed Central

Soares, Herval Ribeiro; Cavalcante, Wagner Cid Palmeira; Martins, Sebastião Nunes; Smid, Jerusa; Nitrini, Ricardo

2016-01-01

ABSTRACT We report the case of a patient with insidious onset and slowly progressive cognitive impairment, behavioral symptoms, temporal lobe seizures and delusional thoughts typical of delusional misidentification syndromes. Clinical presentation along with extensive diagnostic work-up revealed limbic encephalitis secondary to diffuse large B-cell lymphoma. The patient underwent immunotherapy with high-dose corticosteroid but no significant improvement was observed. No specific treatment for lymphoma was performed because the patient died of septic shock following a nosocomial respiratory infection. Delusional misidentification syndromes are an unusual and unique form of cognitive impairment in which a patient consistently misidentifies persons, places, objects, or events. Capgras syndrome is the most common subtype of this disorder, being defined by the recurrent and transient belief that someone close has been substituted by an imposter. These entities are generally associated with neurodegenerative diseases and psychiatric disturbances. Rare reports of associations between misidentification syndromes and autoimmune diseases such as multiple sclerosis have been published, but no papers address a correlation with limbic encephalitis or lymphoma. PMID:29213434

B-cell acute lymphoblastic leukemia with mature phenotype and MLL rearrangement: report of five new cases and review of the literature.

PubMed

Sajaroff, Elisa Olga; Mansini, Adrian; Rubio, Patricia; Alonso, Cristina Noemí; Gallego, Marta S; Coccé, Mariela C; Eandi-Eberle, Silvia; Bernasconi, Andrea Raquel; Ampatzidou, Maria; Paterakis, George; Papadhimitriou, Stefanos I; Petrikkos, Loizos; Papadakis, Vassilios; Polychronopoulou, Sophia; Rossi, Jorge G; Felice, Maria Sara

2016-10-01

The association between mature-B phenotype and MLL abnormalities in acute lymphoblastic leukemia (ALL) is a very unusual finding; only 14 pediatric cases have been reported so far. We describe the clinical and biological characteristics and outcome of five pediatric cases of newly diagnosed B lineage ALL with MLL abnormalities and mature immunophenotype based on light chain restriction and surface Ig expression. Blasts showed variable expression of CD10/CD34/TdT. MLL abnormalities with no MYC involvement were detected in all patients by G-banding, FISH, and/or RT-PCR. Three patients were treated according to Interfant protocol, one to ALLIC-09, and one received B-NHL-BFM-2004. All patients achieved complete remission and three of them relapsed. Despite the small cohort size, it could be postulated that B lineage ALL with MLL abnormalities and mature phenotype is a distinct entity that differs both from the typical Pro B ALL observed in infants and mature B-ALL with high MYC expression.

Emphysematous vaginitis.

PubMed

Lima-Silva, Joana; Vieira-Baptista, Pedro; Cavaco-Gomes, João; Maia, Tiago; Beires, Jorge

2015-04-01

Emphysematous vaginitis is a rare condition, characterized by the presence of multiple gas-filled cysts in the vaginal and/or exocervical mucosa. Although its etiology is not completely understood, it is self-limited, with a benign clinical course. Vaginal discharge, sometimes bloody, and pruritus are the most common symptoms. Chronic and acute inflammation can be found, and diseases that impair the immune system and pregnancy have been associated with this condition. A 48-year-old postmenopausal woman, with a history of hysterectomy with several comorbidities, presented with a 4-month history of bloody discharge and vulvar pruritus. Examination showed multiple cystic lesions, 1 to 5 mm, occupying the posterior and right lateral vaginal walls. Speculum examination produced crepitus. Vaginal wet mount was normal, except for diminished lactobacilli; results of Trichomonas vaginalis DNA test and vaginal cultures were negative. Lugol's iodine applied to the vagina was taken up by the intact lesions. Biopsy result showed typical features of emphysematous vaginitis. This is an unusual entity, presenting with common gynecological complaints, and both physicians and pathologists should be aware to prevent misdiagnosis and overtreatment.

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

PubMed

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

2014-03-06

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

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

PubMed

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

2012-07-01

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

Idiopathic Noncirrhotic Portal Hypertension: An Appraisal

PubMed Central

Lee, Hwajeong; Rehman, Aseeb Ur; Fiel, M. Isabel

2016-01-01

Idiopathic noncirrhotic portal hypertension is a poorly defined clinical condition of unknown etiology. Patients present with signs and symptoms of portal hypertension without evidence of cirrhosis. The disease course appears to be indolent and benign with an overall better outcome than cirrhosis, as long as the complications of portal hypertension are properly managed. This condition has been recognized in different parts of the world in diverse ethnic groups with variable risk factors, resulting in numerous terminologies and lack of standardized diagnostic criteria. Therefore, although the diagnosis of idiopathic noncirrhotic portal hypertension requires clinical exclusion of other conditions that can cause portal hypertension and histopathologic confirmation, this entity is under-recognized clinically as well as pathologically. Recent studies have demonstrated that variable histopathologic entities with different terms likely represent a histologic spectrum of a single entity of which obliterative portal venopathy might be an underlying pathogenesis. This perception calls for standardization of the nomenclature and formulation of widely accepted diagnostic criteria, which will facilitate easier recognition of this disorder and will highlight awareness of this entity. PMID:26563701

Acquired bilateral telangiectatic macules: a distinct clinical entity.

PubMed

Park, Ji-Hye; Lee, Dong Jun; Lee, Yoo-Jung; Jang, Yong Hyun; Kang, Hee Young; Kim, You Chan

2014-09-01

We evaluated 13 distinct patients with multiple telangiectatic pigmented macules confined mostly to the upper arms to determine if the clinical and histopathological features of these cases might represent a specific clinical entity. We retrospectively investigated the clinical, histopathologic, and immunohistochemical features of 13 patients with multiple telangiectatic pigmented macules on the upper arms who presented between January 2003 and December 2012. Epidermal pigmentation, melanogenic activity, melanocyte number, vascularity, epidermal thickness, and perivascular mast cell number of the specimens were evaluated. Clinically, the condition favored middle-aged men. On histopathologic examination, the lesional skin showed capillary proliferation and telangiectasia in the upper dermis. Histochemical and immunohistochemical analysis revealed basal hyperpigmentation and increased melanogenic activity in the lesional skin (P < .05). No significant difference in epidermal thickness or mast cell number was observed between the normal perilesional skin and the lesional skin. The clinical and histopathologic features of these lesions were relatively consistent in all patients. In addition, the features are quite distinct from other diseases. Based on clinical and histologic features, we suggest the name acquired bilateral telangiectatic macules for this new entity.

Unconventional Consumption Methods and Enjoying Things Consumed: Recapturing the "First-Time" Experience.

PubMed

O'Brien, Ed; Smith, Robert W

2018-06-01

People commonly lament the inability to re-experience familiar things as they were first experienced. Four experiments suggest that consuming familiar things in new ways can disrupt adaptation and revitalize enjoyment. Participants better enjoyed the same familiar food (Experiment 1), drink (Experiment 2), and video (Experiments 3a-3b) simply when re-experiencing the entity via unusual means (e.g., eating popcorn using chopsticks vs. hands). This occurs because unconventional methods invite an immersive "first-time" perspective on the consumption object: boosts in enjoyment were mediated by revitalized immersion into the consumption experience and were moderated by time such that they were strongest when using unconventional methods for the first time (Experiments 1-2); likewise, unconventional methods that actively disrupted immersion did not elicit the boost, despite being novel (Experiments 3a-3b). Before abandoning once-enjoyable entities, knowing to consume old things in new ways (vs. attaining new things altogether) might temporarily restore enjoyment and postpone wasteful replacement.

Lichen planus hypertrophicus of the vulva - a rare entity.

PubMed

Job, Anupa Mary; Kaimal, Sowmya

2017-09-01

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

The Novel Object and Unusual Name (NOUN) Database: A collection of novel images for use in experimental research.

PubMed

Horst, Jessica S; Hout, Michael C

2016-12-01

Many experimental research designs require images of novel objects. Here we introduce the Novel Object and Unusual Name (NOUN) Database. This database contains 64 primary novel object images and additional novel exemplars for ten basic- and nine global-level object categories. The objects' novelty was confirmed by both self-report and a lack of consensus on questions that required participants to name and identify the objects. We also found that object novelty correlated with qualifying naming responses pertaining to the objects' colors. The results from a similarity sorting task (and a subsequent multidimensional scaling analysis on the similarity ratings) demonstrated that the objects are complex and distinct entities that vary along several featural dimensions beyond simply shape and color. A final experiment confirmed that additional item exemplars comprised both sub- and superordinate categories. These images may be useful in a variety of settings, particularly for developmental psychology and other research in the language, categorization, perception, visual memory, and related domains.

[Association between central diabetes insipidus and type 2 diabetes mellitus].

PubMed

Palumbo, Claudia; Nicolaci, Nora; La Manna, Andrés A; Branek, Natalia; Pissano, María N

2018-01-01

Central diabetes insipidus is a rare disease of the hypothalamus and neurohypophysis. It is very unusually found in the adult with type 2 diabetes mellitus. It is manifested by a polydipsic polyuric syndrome, which must be distinguished from the poorly controlled type 2 diabetes mellitus. Given the similarity of both entities and the unusual nature of their coexistence, their suspicion is difficult. The case of a 72-year-old male with type 2 diabetes mellitus with poor insulin control (fasting hyperglycemia greater than 180 mg/dl) who had a long-standing polyuric syndrome is here presented. Hypernatremia and plasma osmolality elevated together with a low urinary osmolality led to the suspicion of diabetes insipidus, which was subsequently confirmed by the dehydration test and the administration of desmopressin sc. With 61% increase in the calculated urinary osmolarity one hour post desmopressin s.c., diabetes insipidus of central type was diagnosed. Nuclear Magnetic Resonance showed a bright spot with normal neurohypophysis, contributing to the diagnosis of the idiopathic form.

Lyme disease: a rigorous review of diagnostic criteria and treatment.

PubMed

Borchers, Andrea T; Keen, Carl L; Huntley, Arthur C; Gershwin, M Eric

2015-02-01

Lyme disease was originally identified in Lyme, Connecticut, based upon an unusual cluster of what appeared to be patients with juvenile rheumatoid arthritis. It was subsequently identified as a new clinical entity originally called Lyme arthritis based on the observation that arthritis was a major clinical feature. However, Lyme arthritis is now called Lyme disease based upon the understanding that the clinical features include not only arthritis, but also potential cardiac, dermatologic and neurologic findings. Lyme disease typically begins with an erythematous rash called erythema migrans (EM). Approximately 4-8% of patients develop cardiac, 11% develop neurologic and 45-60% of patients manifest arthritis. The disease is transmitted following exposure to a tick bite containing a spirochete in a genetically susceptible host. There is considerable data on spirochetes, including Borrelia burgdorferi (Bb), the original bacteria identified in this disease. Lyme disease, if an organism had not been identified, would be considered as a classic autoimmune disease and indeed the effector mechanisms are similar to many human diseases manifest as loss of tolerance. The clinical diagnosis is highly likely based upon appropriate serology and clinical manifestations. However, the serologic features are often misinterpreted and may have false positives if confirmatory laboratory testing is not performed. Antibiotics are routinely and typically used to treat patients with Lyme disease, but there is no evidence that prolonged or recurrent treatment with antibiotics change the natural history of Lyme disease. Although there are animal models of Lyme disease, there is no system that faithfully recapitulates the human disease. Further research on the effector mechanisms that lead to pathology in some individuals should be further explored to develop more specific therapy. Copyright © 2014 Elsevier Ltd. All rights reserved.

Clinical Named Entity Recognition Using Deep Learning Models.

PubMed

Wu, Yonghui; Jiang, Min; Xu, Jun; Zhi, Degui; Xu, Hua

2017-01-01

Clinical Named Entity Recognition (NER) is a critical natural language processing (NLP) task to extract important concepts (named entities) from clinical narratives. Researchers have extensively investigated machine learning models for clinical NER. Recently, there have been increasing efforts to apply deep learning models to improve the performance of current clinical NER systems. This study examined two popular deep learning architectures, the Convolutional Neural Network (CNN) and the Recurrent Neural Network (RNN), to extract concepts from clinical texts. We compared the two deep neural network architectures with three baseline Conditional Random Fields (CRFs) models and two state-of-the-art clinical NER systems using the i2b2 2010 clinical concept extraction corpus. The evaluation results showed that the RNN model trained with the word embeddings achieved a new state-of-the- art performance (a strict F1 score of 85.94%) for the defined clinical NER task, outperforming the best-reported system that used both manually defined and unsupervised learning features. This study demonstrates the advantage of using deep neural network architectures for clinical concept extraction, including distributed feature representation, automatic feature learning, and long-term dependencies capture. This is one of the first studies to compare the two widely used deep learning models and demonstrate the superior performance of the RNN model for clinical NER.

Clinical Named Entity Recognition Using Deep Learning Models

PubMed Central

Wu, Yonghui; Jiang, Min; Xu, Jun; Zhi, Degui; Xu, Hua

2017-01-01

Clinical Named Entity Recognition (NER) is a critical natural language processing (NLP) task to extract important concepts (named entities) from clinical narratives. Researchers have extensively investigated machine learning models for clinical NER. Recently, there have been increasing efforts to apply deep learning models to improve the performance of current clinical NER systems. This study examined two popular deep learning architectures, the Convolutional Neural Network (CNN) and the Recurrent Neural Network (RNN), to extract concepts from clinical texts. We compared the two deep neural network architectures with three baseline Conditional Random Fields (CRFs) models and two state-of-the-art clinical NER systems using the i2b2 2010 clinical concept extraction corpus. The evaluation results showed that the RNN model trained with the word embeddings achieved a new state-of-the- art performance (a strict F1 score of 85.94%) for the defined clinical NER task, outperforming the best-reported system that used both manually defined and unsupervised learning features. This study demonstrates the advantage of using deep neural network architectures for clinical concept extraction, including distributed feature representation, automatic feature learning, and long-term dependencies capture. This is one of the first studies to compare the two widely used deep learning models and demonstrate the superior performance of the RNN model for clinical NER. PMID:29854252

Melorheostosis mimicking synovial osteochondromatosis.

PubMed

Wadhwa, Vibhor; Chhabra, Avneesh; Samet, Jonathan D

2014-01-01

Melorheostosis is an uncommon, sporadic, sclerosing bone lesion that may affect the adjacent soft tissues. It has been associated with many entities such as osteopoikilosis, soft tissue vascular malformations, bone and soft tissue tumors, nephrotic syndrome, segmental limb contractures, osteosarcoma, desmoid tumor, and mesenteric fibromatosis. Synovial osteochondromatosis is a benign neoplasia of the hyaline cartilage presenting as nodules in the subsynovial tissue of a joint or tendon sheath. The intra-articular extension of melorheostosis mimicking synovial osteochondromatosis has not been reported before. In this article, the authors describe an unusual case mimicking synovial chondromatosis arising as a result of melorheostosis and their characteristic imaging findings.

Juvenile xanthogranuloma variant: a clinicopathological case report and review of the literature.

PubMed

Iwuagwu, F C; Rigby, H S; Payne, F; Reid, C D

1999-10-01

Juvenile xanthogranuloma is a relatively rare cutaneous lesion. In order to make an early diagnosis and be alert to the possibility of visceral complications and associated medical conditions, plastic surgeons should be aware of the entity. The classic presentation is that of successive eruptions in the head, neck and upper trunk of initially red papules or nodules which later become yellow and finally brown flattened plaques or macules. This report is of an unusual variant with atypical histology including frequent mitoses and a lack of Touton giant cells. Copyright 1999 The British Association of Plastic Surgeons.

Colitis cystica profunda of the rectum: An unexpected operative finding

PubMed Central

Ayantunde, Abraham A; Strauss, Claire; Sivakkolunthu, Malathi; Malhotra, Anu

2016-01-01

Colitis cystic profunda is a rare entity benign condition of the colon and rectum that can mimic suspicious polyps or malignancy. The commonest sites of affectation are the rectum and the sigmoid colon but it can be unusually widely distributed in the colon. The aetiology of this condition is not fully elucidated and confident diagnosis can only be made on histological features. We hereby describe a patient who presented with significant rectal symptoms and an unexpected finding of a submucosal mucous cyst mimicking a suspicious rectal polyp and highlighted its significance and the review of the literature. PMID:27458593

Colitis cystica profunda of the rectum: An unexpected operative finding.

PubMed

Ayantunde, Abraham A; Strauss, Claire; Sivakkolunthu, Malathi; Malhotra, Anu

2016-07-16

Colitis cystic profunda is a rare entity benign condition of the colon and rectum that can mimic suspicious polyps or malignancy. The commonest sites of affectation are the rectum and the sigmoid colon but it can be unusually widely distributed in the colon. The aetiology of this condition is not fully elucidated and confident diagnosis can only be made on histological features. We hereby describe a patient who presented with significant rectal symptoms and an unexpected finding of a submucosal mucous cyst mimicking a suspicious rectal polyp and highlighted its significance and the review of the literature.

Two familial cases with a lethal gracile bone dysplasia and intrauterine growth retardation.

PubMed

Korniszewski, Lech; Arbuckle, Susan; Kozlowski, Kazimierz

2003-05-01

A number of more or less distinct entities with low birth weight and abnormal radiographic appearances have been identified. We studied two sisters who were unusual because of severe intrauterine growth restriction, absence of growth after birth, decrease of pre- and postnatal spontaneous mobility, and early fatal outcome. The chondro-osseous morphology documented a distinctive osteochondrodysplasia. The radiographic examination was superficially similar to gracile bone dysplasias but was inconsistent with any known types of this group. These two patients appear to have a unique gracile bone dysplasia. Copyright 2003 Wiley-Liss, Inc.

Chlamydial infection preceding the development of rheumatoid arthritis: a brief report.

PubMed

Jolly, Meenakshi; Curran, J J

2004-10-01

Chlamydia trachomatis-triggered reactive arthritis is a well-documented entity that has been extensively described. We do not have a clear understanding about the inflammatory oligoarthritis associated with the presence of this organism. It is rarely cultured from the synovial fluid, but is usually detectable by molecular biological techniques. Typically, Chlamydia trachomatis causes a sterile but inflammatory oligoarthritis. We report an unusual case of inflammatory monoarthritis in a young woman in whom Chlamydia was isolated from the synovial fluid. This is the first case of documented isolation of Chlamydia from synovial fluid, which subsequently was diagnosed as rheumatoid arthritis.

Paramolar – A supernumerary molar: A case report and an overview

PubMed Central

Nayak, Gurudutt; Shetty, Shashit; Singh, Inderpreet; Pitalia, Deepti

2012-01-01

Paramolar is a supernumerary molar usually small and rudimentary, most commonly situated buccally or palatally to one of the maxillary molars. Paramolar is a developmental anomaly and has been argued to arise from a combination of genetic and environmental factors. Reports of this entity are rarely found in the dental literature. This article presents a case report of an unusual occurrence of a paramolar in the maxilla in otherwise a healthy individual. In addition, literature review, prevalence, classification, etiology, complications, diagnosis, and therapeutic strategies that may be adopted when supernumeraries occurs have been discussed. PMID:23559961

Spontaneous biliary perforation in an infant: an unusual chronic presentation.

PubMed

Vijay, Babu Balakrishnan; Kumar, Rakesh; Gupta, Devendra K; Ragavan, Muniswamy; Mohapatra, Tushar; Dhanpathi, Halanaik; Sharma, Sanjay; Malhotra, Arun

2008-04-01

Spontaneous perforation of the biliary ducts is a rare disorder in infants. Early diagnosis of this entity is important because it can be treated surgically. We report on a 4-month-old child presenting with jaundice and progressive abdominal distention present since birth. Hepatobiliary scintigraphy, which was done to rule out any obstructive pathology, showed a biliary leak from the porta hepatis region leading to biliary ascites and bilateral hydroceles. Surgical exploration and intraoperative cholangiogram confirmed cystic duct perforation. Cholecystectomy and inguinal herniorrhaphy were performed. Follow-up hepatobiliary scintigraphy demonstrated complete resolution of the bile leak and hydroceles.

Myasthenia Gravis: Unusual Presentations and Diagnostic Pitfalls.

PubMed

Rodolico, Carmelo; Parisi, Daniela; Portaro, Simona; Biasini, Fiammetta; Sinicropi, Stefano; Ciranni, Annamaria; Toscano, Antonio; Messina, Sonia; Musumeci, Olimpia; Vita, Giuseppe; Girlanda, Paolo

2016-08-30

Myasthenia gravis (MG) is an autoimmune disorder presenting with fluctuating, fatigable muscle weakness. Initial symptoms classically involve ocular and proximal limb muscles. Rarely, MG may onset with unusual features, so it can be misdiagnosed with other neuromuscular diseases. To describe unusual and atypical presentations of MG in a large cohort of patients, considering and discussing diagnostic difficulties and pitfalls. We report on 21 out of 508 MG patients, coming to our department in the last 27 years and presenting with atypical or unusual features. The diagnosis was achieved performing a careful clinical examination, a proper neurophysiological assessment, the neostigmine test, the AChR and MuSK antibodies assay and chest CT-scan. Patients with atypical/unusual MG onset were the 4.4% of all MG patients population. We describe seven different clinical categories: asymmetric distal upper limbs weakness, foot drop, isolated triceps brachii weakness and foot drop, post exertional axial weakness with dropped head, acute facial dyplegia, limb-girdle MG and MG with sudden lower limbs weakness and recurrent falls. Atypical and unusual presentations may increase the risk to misdiagnose or delay MG diagnosis. Isolated limb-girdle presentation is the most frequent atypical form in our series.

Holoprosencephaly with caudal dysplasia. Pseudo-trisomy 13 or a distinct entity?

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

Hicks, R.P.B.; Aylsworth, A.S.; Timmons, M.C.

1994-09-01

We have studied three chromosomally normal patients with multiple anomalies that include holoprosencephaly and caudal dysplasia. Each has features found in patients with pseudo-trisomy 13, though each lacks malformations common in that syndrome. Patients 1 and 2 did not have polydactyly and patients 2 and 3 had no congenital heart malformation. Patient 1 is also unusual in that he does not have typical holoprosencephalic facies and is alive at age 25 months. We have also identified two other similar patients in the London Dysmorphology Database, each of which had holoprosencephaly, congenital heart malformation, and imperforate anus. Isolated caudal dysplasia andmore » holoprosencephaly are both causally heterogeneous. They have been reported together rarely in patients with several different syndromes including chromosomal abnormalities, monogenic syndromes, teratogenic insults, and syndromes of unknown cause. Over thirty cases of {open_quotes}pseudo-trisomy 13{close_quotes} have now been reported and eight of these have had features of caudal dysplasia. There have been four with imperforate anus or anal stenosis, one with lumbosacral vertebral anomaly, and three others with bilateral renal agenesis or hypoplasia. Based on our patients and this review of other reported and unreported cases, we suggest that caudal dysplasia may be a significant clinical feature of pseudo-trisomy 13. Alternatively, holoprosencephaly and caudal dysplasia with a normal karyotype may represent a similar though distinct entity. Some may have submicroscopic chromosomal deletions. Molecular studies of regions known to be associated with holoprosencephaly are currently in progress on tissue from Patient 1. We hope these observations will stimulate reports of similarly affected patients to allow better definition of pseudo-trisomy 13 and other overlap syndromes.« less

Seborrheic Keratosis-like Lesions of the Cervix and Vagina: Report of a New Entity Possibly Related to Low-risk Human Papillomavirus Infection.

PubMed

Talia, Karen L; McCluggage, W Glenn

2017-04-01

We report a series of 7 unusual and morphologically distinct cervical or upper vaginal lesions in women aged 41 to 70 years. The lesions involved the cervix in 3 cases, the upper vagina in 2, the cervix and vagina in 1, and in 1 case the site of origin could not be determined. The lesions had a consistent morphologic appearance with a surface "plaque-like" or "stuck-on" configuration apparent in those cases where surrounding normal tissues were present. Broad coalescing solid sheets and interconnecting trabeculae of cytologically bland cells with a rather "basaloid" appearance emanated from the surface and there were scattered squamous eddies. Other features included peripheral palisading and a stroma containing hyalinized basement membrane-like material. Immunohistochemically, the lesions were diffusely positive with p63, CK5/6, and 34βE12 and focally positive with CK7, but largely negative with CK20, EMA, CEA, and BerEP4. p16 was negative or exhibited nonblock-type immunoreactivity and GATA3 was negative or weakly positive. Molecular testing detected human papillomavirus type 42 in 3 of 7 cases, with no virus detected in the remaining 4 cases. Rarely, similar cases have been reported previously as inverted transitional papilloma of the cervix or vagina, but based on the morphology and immunophenotype we do not feel these represent transitional lesions. We suggest the term seborrheic keratosis-like lesions to designate this new and rare entity, which may be associated with low-risk human papillomavirus infection. Limited follow-up in a small number of cases suggests that these lesions follow a benign clinical course.

Queensland tick typhus: three cases with unusual clinical features.

PubMed

Wilson, P A; Tierney, L; Lai, K; Graves, S

2013-07-01

Queensland tick typhus (QTT), caused by Rickettsia australis, is usually a relatively mild illness but can occasionally be severe. We describe three cases of probable QTT with unusual clinical features, namely splenic infarction, fulminant myopericarditis and severe leukocytoclastic vasculitis. QTT may present with uncommon clinical features in addition to the more common manifestations. A high index of suspicion enables specific antibiotic therapy that may hasten recovery. © 2013 The Authors; Internal Medicine Journal © 2013 Royal Australasian College of Physicians.

Medullary nephrocalcinosis, distal renal tubular acidosis and polycythaemia in a patient with nephrotic syndrome.

PubMed

Karunarathne, Suneth; Udayakumara, Yapa; Govindapala, Dumitha; Fernando, Harshini

2012-07-26

Medullary nephrocalcinosis and distal renal tubular acidosis are closely associated and each can lead to the other. These clinical entities are rare in patients with nephrotic syndrome and polycythaemia is an unusual finding in such patients. We describe the presence of medullary nephrocalcinosis, distal renal tubular acidosis and polycythaemia in a patient with nephrotic syndrome due to minimal change disease. Proposed mechanisms of polycythaemia in patients with nephrotic syndrome and distal renal tubular acidosis include, increased erythropoietin production and secretion of interleukin 8 which in turn stimulate erythropoiesis. A 22 year old Sri Lankan Sinhala male with nephrotic syndrome due to minimal change disease was investigated for incidentally detected polycythaemia. Investigations revealed the presence of renal tubular acidosis type I and medullary nephrocalcinosis. Despite extensive investigation, a definite cause for polycythaemia was not found in this patient. Treatment with potassium and bicarbonate supplementation with potassium citrate led to correction of acidosis thereby avoiding the progression of nephrocalcinosis and harmful effects of chronic acidosis. The constellation of clinical and biochemical findings in this patient is unique but the pathogenesis of erythrocytosis is not clearly explained. The proposed mechanisms for erythrocytosis in other patients with proteinuria include increased erythropoietin secretion due to renal hypoxia and increased secretion of interleukin 8 from the kidney. This case illustrates that there may exist hitherto unknown connections between tubular and glomerular dysfunction in patients with nephrotic syndrome.

Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients.

PubMed

Campens, Laurence; Callewaert, Bert; Muiño Mosquera, Laura; Renard, Marjolijn; Symoens, Sofie; De Paepe, Anne; Coucke, Paul; De Backer, Julie

2015-02-03

Heritable Thoracic Aortic Disorders (H-TAD) may present clinically as part of a syndromic entity or as an isolated (nonsyndromic) manifestation. About one dozen genes are now available for clinical molecular testing. Targeted single gene testing is hampered by significant clinical overlap between syndromic H-TAD entities and the absence of discriminating features in isolated cases. Therefore panel testing of multiple genes has now emerged as the preferred approach. So far, no data on mutation detection rate with this technique have been reported. We performed Next Generation Sequencing (NGS) based screening of the seven currently most prevalent H-TAD-associated genes (FBN1, TGFBR1/2, TGFB2, SMAD3, ACTA2 and COL3A1) on 264 samples from unrelated probands referred for H-TAD and related entities. Patients fulfilling the criteria for Marfan syndrome (MFS) were only included if targeted FBN1 sequencing and MLPA analysis were negative. A mutation was identified in 34 patients (13%): 12 FBN1, one TGFBR1, two TGFBR2, three TGFB2, nine SMAD3, four ACTA2 and three COL3A1 mutations. We found mutations in FBN1 (N = 3), TGFBR2 (N = 1) and COL3A1 (N = 2) in patients without characteristic clinical features of syndromal H-TAD. Six TAD patients harboring a mutation in SMAD3 and one TAD patient with a TGFB2 mutation fulfilled the diagnostic criteria for MFS. NGS based H-TAD panel testing efficiently reveals a mutation in 13% of patients. Our observations emphasize the clinical overlap between patients harboring mutations in syndromic and nonsyndromic H-TAD related genes as well as within syndromic H-TAD entities, justifying a widespread application of this technique.

Extrapelvic endometriosis: a rare entity or an under diagnosed condition?

PubMed Central

2013-01-01

Endometriosis is a clinical entity characterized by the presence of normal endometrial mucosa abnormally implanted in locations other than the uterine cavity. Endometriosis can be either endopelvic or extrapelvicdepending on the location of endometrial tissue implantation. Despite the rarity of extrapelvic endometriosis, several cases of endometriosis of the gastrointestinal tract, the urinarytract, the upper and lower respiratory system, the diaphragm, the pleura and the pericardium, as well as abdominal scars loci have been reported in the literature. There are several theories about the pathogenesis and the pathophysiology of endometriosis. Depending on the place of endometrial tissue implantation, endometriosis can be expressed with a wide variety of symptoms. The diagnosis of this entity is neither easy nor routine. Many diagnostic methods clinical and laboratory have been used, but none of them is the golden standard. The multipotent localization of endometriosis in combination with the wide range of its clinical expression should raise the clinical suspicion in every woman with periodic symptoms of extrapelvic organs. Finally, the therapeutic approach of this clinical entity is also correlated with the bulk of endometriosis and the locum that it is found. It varies from simple observation, to surgical treatment and treatment with medication as well as a combination of those. Virtual slides The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/1968087883113362. PMID:24294950

[Childhood scabies: a different entity].

PubMed

Níguez Carbonell, J C; García-Marcos Alvarez, L; Sebastián Raz, J M; García Marcos, V; Guillén Pérez, J J

1988-01-01

Epidemiological, clinical, diagnostic and therapeutic aspects that make scabies a clinical entity with a special personality in the pediatric field, are reviewed. On the epidemiological aspects, a special mention of its unsuspected frequency in this age is made. Scabies is an endemic disease in our country among the more deprived people. On the clinical aspects, the great importance of clinical history and distribution of skin lesions for the early diagnosis is pointed out. Some "alert pointers" are described for this early diagnosis. On the therapeutic field, the importance of the primary care prevention is discussed, and the drug approach for its relieve is commented.

[On the benefits to keep using the asperger diagnosis].

PubMed

Delcommenne, M; Francolini, M; Bon, O L

The purpose of this paper is to examine the possible benefits to keep using the diagnosis of Asperger's syndrome. We first describe the evolution of this entity over time and within nomenclature bases such as the ICD- 10, the CFTMEA and the last versions of DSM. Then, we discuss more precisely the impact of the decision made in the DSM-5 to suppress the Asperger syndrome as a differentiated entity within the pervasive developmental disorders (PDD). This disorder chapter by the way also disappears and is replaced by Autism Spectrum Disorder (ASD). We present here three clinical cases encountered in an outpatient general child psychiatry clinic : 1 case was diagnosed as Asperger syndrome, 1 as infantile autism (early infantile autism) and 1 as another pervasive developmental disorder (psychotic disharmony). The objective was to expose the commonali ties and differences between these three entities. We conclude that keeping using the Asperger diagnosis is important for the clinical management of these clinical situations but also for the individual, his or her family and society at large.

Acute interstitial pneumonia (Hamman-Rich syndrome) in idiopathic pulmonary fibrosis and bronchoalveolar carcinoma: a case report.

PubMed

Plasek, Jiri; Dvorackova, Jana; Jahoda, Jan; Trulikova, Kristina; Mokosova, Radka; Danek, Tomas; Hrabovsky, Vladimir; Martinek, Arnost

2011-12-01

Acute interstitial pneumonia is characterized by rapid progressive dyspnoea degenerating into respiratory failure requiring mechanical ventilation. Acute interstitial pneumonia (AIP) and idiopathic pulmonary fibrosis (IPF) are separate clinic/pathological entities although overlap may be present. It is well-known that patients with IPF have increased risk of lung carcinoma; Adenocarcinoma in connection with IPF is less common. Moreover the subtype of adenocarcinoma, diffuse bronchoalveolar carcinoma has not yet been described. We report the case of 45 yr old former hockey player with increased bilateral reticular shadowing on chest radiograph, dyspnoea, velcro-like crackles, restrictive respiratory disease and mixed high-resolution computed tomography finding. During brief in-patient treatment the patient developed acute respiratory failure accompanied by multiorgan failure and disseminated coagulopathy. Deterioration of the microcirculation was followed by loss of peripheral vascular resistance, which was irreversible even with normalization of the blood gases achieved by extracorporeal membrane oxygenation. At autopsy, bronchoalveolar carcinoma in usual interstitial pneumonia (UIP) combined with areas of alveolar damage with hyaline membranes was found. This case alerts clinicians to unusual idiopathic pulmonary fibrosis manifestations and its complications. Close collaboration between clinicians, pathologists and laboratory physicians is highly recommended for early diagnosis and appropriate treatment.

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

An ovary as unusual contents of an incarcerated umbilical hernia

PubMed Central

Ahmed, R; Kamat, S; Elkholy, K

2014-01-01

We present the unusual case of a woman presenting with an incarcerated umbilical hernia. Intraoperatively, the contents of the hernia were found to be an ovary. We outline the clinical presentation of our patient, investigations and management as well as a discussion on unusual contents of umbilical hernias. To our knowledge, this is the first case of a non-malignant ovary incarcerated in an umbilical hernia. PMID:25198958

An ovary as unusual contents of an incarcerated umbilical hernia.

PubMed

Ahmed, U; Ahmed, R; Kamat, S; Elkholy, K

2014-09-01

We present the unusual case of a woman presenting with an incarcerated umbilical hernia. Intraoperatively, the contents of the hernia were found to be an ovary. We outline the clinical presentation of our patient, investigations and management as well as a discussion on unusual contents of umbilical hernias. To our knowledge, this is the first case of a non-malignant ovary incarcerated in an umbilical hernia.

Tuberculous Posterior Sclero-Uveitis with Features of Vogt-Koyanagi-Harada Uveitis: An Unusual Case.

PubMed

Kalogeropoulos, Dimitrios; Kitsos, George; Konstantinidis, Athanasios; Gartzonika, Constantina; Svarna, Evgenia; Malamos, Konstantinos; Katsanevakis, Emmanouil; Kalogeropoulos, Chris

2017-04-08

BACKGROUND Ocular tuberculosis (TB) is a clinical entity that presents with a wide range of clinical manifestations. It is regarded as an extremely challenging condition from the point of view of diagnostic approach and calls for early diagnosis and prompt treatment, as it can potentially lead to blindness. CASE REPORT This is a case report of a 32-year-old male from southern India who has been living and working in Greece over the last 10 years and presented with 2-week history of pain and progressive visual impairment of his left eye. He underwent a thorough clinical ophthalmological examination and imaging of the fundus, and the findings were consistent with uveitis. However, the manifestations of the inflammation were complicated as they included features that could be attributed mainly to Vogt-Koyanagi-Harada (VKH) disease and tuberculous serpiginous-like uveitis. Therefore, a systemic evaluation, together with specific laboratory and paraclinical investigations, were carried out to define the etiology of the inflammation and develop an optimal therapeutic plan. Taking into account specific findings from the chest imaging, a positive purified protein derivative (PPD) skin test, and sputum cultures positive for Mycobacterium tuberculosis (MTB), we set a diagnosis of posterior sclero-uveitis and started our patient on anti-tuberculous treatment. CONCLUSIONS This case reveals an atypical manifestation of tuberculous sclero-uveitis imitating Vogt-Koyanagi-Harada disease together with a few characteristics of serpiginous-like tuberculous uveitis, emphasizing the fact that tuberculosis should always be included in the differential diagnosis of uveitis when there is no obvious underlying disease.

Pedunculated and telangiectatic merkel cell carcinoma: an unusual clinical presentation.

PubMed

Errichetti, Enzo; Piccirillo, Angelo; Ricciuti, Federico; Ricciuti, Francesco

2013-05-01

Merkel cell carcinoma (MCC) is an uncommon aggressive neuroendocrine tumor of the skin that classically presents on chronic sun-damaged skin as a skin-colored, red or violaceous, firm and nontender papule or nodule with a smooth and shiny surface. Ulcerations can be observed very seldom and only in very advanced lesions. We present a unique case of a MCC presenting with two unusual clinical features: The Telangiectatic surface and the pedunculated aspect.

Structured prediction models for RNN based sequence labeling in clinical text.

PubMed

Jagannatha, Abhyuday N; Yu, Hong

2016-11-01

Sequence labeling is a widely used method for named entity recognition and information extraction from unstructured natural language data. In clinical domain one major application of sequence labeling involves extraction of medical entities such as medication, indication, and side-effects from Electronic Health Record narratives. Sequence labeling in this domain, presents its own set of challenges and objectives. In this work we experimented with various CRF based structured learning models with Recurrent Neural Networks. We extend the previously studied LSTM-CRF models with explicit modeling of pairwise potentials. We also propose an approximate version of skip-chain CRF inference with RNN potentials. We use these methodologies for structured prediction in order to improve the exact phrase detection of various medical entities.

Structured prediction models for RNN based sequence labeling in clinical text

PubMed Central

Jagannatha, Abhyuday N; Yu, Hong

2016-01-01

Sequence labeling is a widely used method for named entity recognition and information extraction from unstructured natural language data. In clinical domain one major application of sequence labeling involves extraction of medical entities such as medication, indication, and side-effects from Electronic Health Record narratives. Sequence labeling in this domain, presents its own set of challenges and objectives. In this work we experimented with various CRF based structured learning models with Recurrent Neural Networks. We extend the previously studied LSTM-CRF models with explicit modeling of pairwise potentials. We also propose an approximate version of skip-chain CRF inference with RNN potentials. We use these methodologies1 for structured prediction in order to improve the exact phrase detection of various medical entities. PMID:28004040

Evaluation of abdominal pain in the AIDS patient.

PubMed Central

Potter, D A; Danforth, D N; Macher, A M; Longo, D L; Stewart, L; Masur, H

1984-01-01

Acquired immune deficiency syndrome (AIDS) is a recently recognized entity characterized by a deficiency in cell mediated immune response. The syndrome is manifested by the development of otherwise rare malignant neoplasms and severe life-threatening opportunistic infections. Case histories of five AIDS patients evaluated for abdominal pain are presented to demonstrate the unusual spectrum of intra-abdominal pathology that may be encountered in the AIDS patient. As the number of patients with AIDS continues to escalate, surgical evaluation and intervention will be required more frequently. An understanding of this syndrome and its complications is mandatory for the surgeon to adequately evaluate AIDS patients with abdominal pain. PMID:6322708

Collagenous spherulosis presenting as a mass of the breast.

PubMed

Jan, Yee-Jee; Li, Mu-Chun; Ho, William L

2002-10-01

Collagenous spherulosis (CS) is a rare benign lesion which typically presents as an incidental microscopic finding accompanying other breast lesions. Pathologists who are not familiar with this entity occasionally misdiagnose CS as adenoid cystic carcinoma (ACC), cribriform ductal carcinoma in situ (C-DCIS), or atypical intraductal hyperplasia (AIH), especially when it presents as a mass. It is of utmost importance to differentiate benign CS from its malignant mimics in order to avoid unnecessary treatment. We report an unusual case of CS manifested as a mass in the right breast of a 45-year-old female and discuss the problems of differential diagnosis and histogenesis.

Telangiectatic osteosarcoma of the rib: a rare entity and a potential diagnostic pitfall.

PubMed

Saguem, I; Ayadi, L; Kallel, R; Charfi, S; Bahri, I; Gouiaa, N; Sellami-Boudawara, T

2016-12-01

Osteosarcoma (OS) is a common primary malignant tumor of bones that produces osteoid matrix. Telangiectatic osteosarcoma (TOS) is a rare variant of OS. It affects the long bones especially the lower end of femur and the upper ends of tibia and humerus, a distribution similar to the conventional osteosarcoma. The rib involvement is very infrequent. We present a case of TOS of the rib that posed a diagnostic difficulty owing to its unusual location and to its resemblance to giant cell tumor and aneurysmal bone cyst. Correspondence. © Copyright Società Italiana di Anatomia Patologica e Citopatologia Diagnostica, Divisione Italiana della International Academy of Pathology.

Fracture of the clavicle following radical neck dissection and postoperative radiotherapy: a case report and review of the literature

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

Strauss, M.; Bushey, M.J.; Chung, C.

1982-11-01

The treatment of head and neck cancer with radiotherapy and radical neck dissection has many recognized complications. Radiotherapy in therapeutic doses can produce devascularization and weakening of bone. Radical neck dissection results in altered mechanics of the shoulder girdle and a disruption of normally balanced forces acting on the clavicle. An unusual case of clavicle fracture which is considered to have resulted from an interaction of the effects of these therapies is discussed. An approach for recognizing and distinguishing this entity by its time course, and radiographic and nuclide bone scan appearance is presented.

[Anterior infarction of the left ventricle and infarct of the posterior wall of the right ventricle caused by thrombosis of the anterior interventricular artery].

PubMed

Penther, P; Boschat, J; Etienne, Y; Le Potier, J

1988-01-01

The association: anterior infarction of the left ventricle-posterior infarction of the right ventricle, is a rare entity. The authors report the case of a 64 year-old woman, who died on the fifth day of an extended anterior myocardial infarction, present on electrocardiograms; there were however immediate signs of right heart failure unexplained by a pericardial effusion. At the autopsy, the unusual length and distribution of the anterior interventricular artery which was completely obstructed near its origin by a thrombosis occurring on a severe atheromatous and calcified stenosis, explain this association.

New Brain Tumor Entities Emerge from Molecular Classification of CNS-PNETs.

PubMed

Sturm, Dominik; Orr, Brent A; Toprak, Umut H; Hovestadt, Volker; Jones, David T W; Capper, David; Sill, Martin; Buchhalter, Ivo; Northcott, Paul A; Leis, Irina; Ryzhova, Marina; Koelsche, Christian; Pfaff, Elke; Allen, Sariah J; Balasubramanian, Gnanaprakash; Worst, Barbara C; Pajtler, Kristian W; Brabetz, Sebastian; Johann, Pascal D; Sahm, Felix; Reimand, Jüri; Mackay, Alan; Carvalho, Diana M; Remke, Marc; Phillips, Joanna J; Perry, Arie; Cowdrey, Cynthia; Drissi, Rachid; Fouladi, Maryam; Giangaspero, Felice; Łastowska, Maria; Grajkowska, Wiesława; Scheurlen, Wolfram; Pietsch, Torsten; Hagel, Christian; Gojo, Johannes; Lötsch, Daniela; Berger, Walter; Slavc, Irene; Haberler, Christine; Jouvet, Anne; Holm, Stefan; Hofer, Silvia; Prinz, Marco; Keohane, Catherine; Fried, Iris; Mawrin, Christian; Scheie, David; Mobley, Bret C; Schniederjan, Matthew J; Santi, Mariarita; Buccoliero, Anna M; Dahiya, Sonika; Kramm, Christof M; von Bueren, André O; von Hoff, Katja; Rutkowski, Stefan; Herold-Mende, Christel; Frühwald, Michael C; Milde, Till; Hasselblatt, Martin; Wesseling, Pieter; Rößler, Jochen; Schüller, Ulrich; Ebinger, Martin; Schittenhelm, Jens; Frank, Stephan; Grobholz, Rainer; Vajtai, Istvan; Hans, Volkmar; Schneppenheim, Reinhard; Zitterbart, Karel; Collins, V Peter; Aronica, Eleonora; Varlet, Pascale; Puget, Stephanie; Dufour, Christelle; Grill, Jacques; Figarella-Branger, Dominique; Wolter, Marietta; Schuhmann, Martin U; Shalaby, Tarek; Grotzer, Michael; van Meter, Timothy; Monoranu, Camelia-Maria; Felsberg, Jörg; Reifenberger, Guido; Snuderl, Matija; Forrester, Lynn Ann; Koster, Jan; Versteeg, Rogier; Volckmann, Richard; van Sluis, Peter; Wolf, Stephan; Mikkelsen, Tom; Gajjar, Amar; Aldape, Kenneth; Moore, Andrew S; Taylor, Michael D; Jones, Chris; Jabado, Nada; Karajannis, Matthias A; Eils, Roland; Schlesner, Matthias; Lichter, Peter; von Deimling, Andreas; Pfister, Stefan M; Ellison, David W; Korshunov, Andrey; Kool, Marcel

2016-02-25

Primitive neuroectodermal tumors of the central nervous system (CNS-PNETs) are highly aggressive, poorly differentiated embryonal tumors occurring predominantly in young children but also affecting adolescents and adults. Herein, we demonstrate that a significant proportion of institutionally diagnosed CNS-PNETs display molecular profiles indistinguishable from those of various other well-defined CNS tumor entities, facilitating diagnosis and appropriate therapy for patients with these tumors. From the remaining fraction of CNS-PNETs, we identify four new CNS tumor entities, each associated with a recurrent genetic alteration and distinct histopathological and clinical features. These new molecular entities, designated "CNS neuroblastoma with FOXR2 activation (CNS NB-FOXR2)," "CNS Ewing sarcoma family tumor with CIC alteration (CNS EFT-CIC)," "CNS high-grade neuroepithelial tumor with MN1 alteration (CNS HGNET-MN1)," and "CNS high-grade neuroepithelial tumor with BCOR alteration (CNS HGNET-BCOR)," will enable meaningful clinical trials and the development of therapeutic strategies for patients affected by poorly differentiated CNS tumors. Copyright © 2016 Elsevier Inc. All rights reserved.

Diagnosis of systemic lupus erythematosus in an unusual presentation: what a primary care physician should know.

PubMed

Pramanik, Bimalendu

2014-01-01

Systemic Lupus Erythematosus (SLE) is a multisystem autoimmune disease affecting millions of people worldwide. It can affect any organ systems of the body. However, all systems may not be involved initially rather than they may be affected gradually, sometimes over years. Diagnosis depends on characteristic clinical features and laboratory test results. Some features such as skin rash, joint symptoms and oral ulcers are common in SLE. But initial presentation of many patients is unusual because either they do not have these common features of the disease or the presentation mimics other illnesses. As a result, delayed diagnosis and misdiagnosis are common. Therefore, high index of initial suspicion of SLE is critical. In clinical practice, SLE should be suspected in any patient presenting with an unexplained disease process involving two or more organ systems. To make a diagnosis in an unusual presentation, thorough clinical evaluation with details history of both present and past illnesses as well as laboratory tests for SLE should be performed. Usually primary-care physicians first evaluate SLE patients; but there is no single article, where all the information on when to suspect SLE in an unusual presentation, is available in an integrated form. In this article, a list of conditions, when SLE should be suspected in an unusual presentation, has been given and some relatively common areas with diagnostic challenges of SLE have been briefly described. To prepare this manuscript, most articles have been identified through 'Pubmed' search using keywords-atypical/ unusual presentation of SLE, case reports on SLE, gastrointestinal manifestations of SLE, neuropsychiatric SLE, diagnostic challenges with SLE, etc. Selected most articles are from currently medline-indexed journals.

Clinical characterization of unusual cystic echinococcosis in southern part of Turkey.

PubMed

Akcam, Atlgan Tolga; Ulku, Abdullah; Koltas, Ismail Soner; Izol, Volkan; Bicer, Omer Sunkar; Kilicbagir, Emine; Sakman, Gurhan; Poyrazoglu, Hakan; Erman, Tahsin; Aridogan, Ibrahim Atilla; Parsak, Cem Kaan; Inal, Mehmet; Iskit, Serdar

2014-01-01

The incidence of primary extrahepatic cystic echinococcosis (CE) is rare. Generally, radiological and serological findings can help establish the diagnosis of hepatic and pulmonary CE, but a CE in an unusual location with atypical radiological findings may complicate the differential diagnosis. The objective of this study is to present the characteristics of cases with extrahepatic CE in respect of sites of involvement, clinical presentations, radiological findings, serological diagnostic evaluations, and outcomes of infected patients. A retrospective analysis of surgically treated CE was conducted between January 1993 and January 2014 in the General Surgery, Pediatric Surgery, Urology, Cardiovascular Surgery, Neurosurgery, and Orthopedics departments of University of Cukurova, Faculty of Medicine, Balcal Hospital. Among the 661 patients managed for CE, 134 had unusual sites of involvement. Radiological and serological examinations were used to differentiate CE from alveolar echinococcosis. Of 134 cases with unusual sites of involvement, 32 cases had liver CE (23.9%), 7 cases had lung CE (5.2%), and 2 cases had concomitant liver and lung CE (1.5%). In 93 (69.4%) cases, unusual organ involvement was isolated without any liver or lung involvement. The mean age was 45 years. Abdominal pain was the main symptom and was found in 104 patients. Thirty-one (23.1%) of 134 extrahepatic CE cases were evaluated as negative with indirect hemagglutination (IHA). However, positive results were obtained in 54 cases evaluated with Echinococcus granulosus IgG Western blot (WB), including 10 IHA-negative cases. CE with unusual localizations may cause serious problems of diagnostic confusion. The combination of clinical history, radiological findings, and serological test results (especially the WB) are valuable in diagnosing extrahepatic CE.

Pedunculated and Telangiectatic Merkel Cell Carcinoma: An Unusual Clinical Presentation

PubMed Central

Errichetti, Enzo; Piccirillo, Angelo; Ricciuti, Federico; Ricciuti, Francesco

2013-01-01

Merkel cell carcinoma (MCC) is an uncommon aggressive neuroendocrine tumor of the skin that classically presents on chronic sun-damaged skin as a skin-colored, red or violaceous, firm and nontender papule or nodule with a smooth and shiny surface. Ulcerations can be observed very seldom and only in very advanced lesions. We present a unique case of a MCC presenting with two unusual clinical features: The Telangiectatic surface and the pedunculated aspect. PMID:23723504

[Clinical dilemma: an unusual case of ascites].

PubMed

Romi, Hila; Hausman, Michael; Kachko, Leonid; Emanuel, Sikuler

2012-12-01

Cirrhotic portal hypertension is the major cause of ascites. Ascites is the most common expression of decompensated liver disease. However, other etiologies may occur and may pose a diagnostic and therapeutic challenge. A patient with chronic hepatitis C and an unusual cause of ascites is presented.

Unusual headache syndromes.

PubMed

Queiroz, Luiz P

2013-01-01

Some headache syndromes have few cases reported in the literature. Their clinical characteristics, pathogenesis, and treatment may have not been completely defined. They may not actually be uncommon but rather under-recognized and/or underreported. A literature review of unusual headache syndromes, searching PubMed and ISI Web of Knowledge, was performed. After deciding which disorders to study, relevant publications in scientific journals, including original articles, reviews, meeting abstracts, and letters or correspondences to the editors were searched. This paper reviewed the clinical characteristics, the pathogenesis, the diagnosis, and the treatment of five interesting and unusual headache syndromes: exploding head syndrome, red ear syndrome, neck-tongue syndrome, nummular headache, and cardiac cephalgia. Recognizing some unusual headaches, either primary or secondary, may be a challenge for many non-headache specialist physicians. It is important to study them because the correct diagnosis may result in specific treatments that may improve the quality of life of these patients, and this can even be life saving. © 2013 American Headache Society.

Psychomedical care in gender identity dysphoria during adolescence.

PubMed

Sánchez Lorenzo, Isabel; Mora Mesa, Juan José; Oviedo de Lúcas, Olga

In the clinical literature, the term gender dysphoria is used to define the perception of rejection that a person has to the fact of being male or female. In children and adolescents, gender identity dysphoria is a complex clinical entity. The result of entity is variable and uncertain, but in the end only a few will be transsexuals in adulthood. METHODOLOGY: RESULTS AND CONCLUSIONS. Copyright © 2015 SEP y SEPB. Publicado por Elsevier España, S.L.U. All rights reserved.

[Epithelioid hemangioendothelioma: an uncommon liver tumor].

PubMed

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

2010-01-01

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

[Developmental abnormalities and nevi of the scalp].

PubMed

Behle, V; Hamm, H

2014-12-01

Unusual congenital or early-onset skin lesions on the scalp often pose a diagnostic challenge particularly as the clinical evaluation may be hampered by dense hair growth. Thus, this paper provides a concise review on developmental abnormalities and nevi with exclusive or predominant scalp localization. Aplasia cutis congenita occurs as an isolated finding, in association with genetic syndromes, nevi and anomalies or as a consequence of intrauterine trauma and teratogens. A hairless area with a narrow surrounding rim of hypertrichosis (hair collar sign) may point to occult cranial dysraphism, especially if accompanied by further suggestive signs as port-wine stains, large hemangiomas, dimples, congenital dermoid cysts, and sinuses. Many diverse entities may hide behind cutis verticis gyrata with the primary essential form being rare and representing a diagnosis of exclusion. In contrast to former belief, benign adnexal tumors arise in a nevus sebaceus considerably more often than basal cell carcinomas and other malignant epithelial tumors. Provided that tumor development is not suspected, excision of a nevus sebaceus nevus is indicated primarily for aesthetic-psychosocial reasons. However, surgical treatment is considerably easier in small children. Nevus sebaceus may be a cutaneous marker for several complex syndromes whereas nevus psiloliparus presents almost always in connection with encephalocraniocutaneous lipomatosis. Congenital melanocytic nevi of the scalp tend toward clinical regression, so that surgical intervention in large lesions should be carefully considered. In contrast, the threshold for excision of blue nevi and other conspicuous melanocytic nevi on the scalp should be low, especially since they are difficult to monitor.

Gastric involvement in patients with primary mediastinal large B-cell lymphoma.

PubMed

Papageorgiou, Sotirios G; Sachanas, Sotirios; Pangalis, Gerassimos A; Tsopra, Olga; Levidou, Georgia; Foukas, Periklis; Rondogianni, Phoivi; Sotiropoulos, Vasileios; Ioannidou, Helen-Dikaia; Gassiamis, Argyris; Iliakis, Theodoros; Korkolopoulou, Penelope; Angelopoulou, Maria K; Pappa, Vasiliki; Konstantopoulos, Konstantinos; Vassilakopoulos, Theodoros P

2014-11-01

Gastric involvement is unusual in primary mediastinal large B-cell lymphoma (PMLBCL), which has not yet been adequately studied. The aim of this retrospective study was to investigate the frequency of gastric involvement in 204 consecutive patients with PMLBCL that presented at 23 hospitals in Greece. Two out of 204 patients (1.0%) had gastric involvement at presentation. The first patient had symptomatic gastric disease manifested as upper gastrointestinal (GI) hemorrhage, which was the presenting symptom (first case reported in the literature). The second patient underwent positron emission tomography/computed tomography (PET/CT) at baseline staging which revealed abnormal gastric uptake. Histological examination revealed discordant lymphomatous involvement (MALT lymphoma, in a 33-year old female). The estimated frequency of gastric involvement by conventional staging was 1/204 (0.49%), but no cases were identified among asymptomatic patients. Among asymptomatic patients who underwent PET/CT at baseline staging, the PET/CT-based frequency of gastric involvement was 7.1%, but lymphomatous gastric involvement was discordant. Finally, the frequency of gastric involvement in primary progressive or relapsed disease was 2.2%. Our study shows that gastric involvement is uncommon but can be seen in different clinical settings at presentation or at progression/relapse of PMLBCL. PET/CT-based staging may provide more accurate information regarding the true incidence of sub-clinical gastric involvement in this entity, but histological confirmation is essential in order to confirm the diagnosis. Copyright© 2014 International Institute of Anticancer Research (Dr. John G. Delinassios), All rights reserved.

A CARE-compliant article: a case of retrograde intussusception with Uncut-Roux-en-Y anastomosis after radical total gastrectomy: Review of the literature.

PubMed

Zhou, Youxin; Wang, Fengfeng; Ji, Yong; Lv, Jian

2017-12-01

Postoperative intussusception is an unusual clinical entity and is rarely encountered as a complication following gastrectomy, especially radical total gastrectomy. A 74-year-old woman was admitted to our hospital with complaints of melena and hematemesis. And the endoscopic biopsy confirmed the poorly differentiated adenocarcinoma of the stomach. Radical total gastrectomy with Uncut Roux-en-Y reconstruction was performed. On the third postoperative day (POD3), the patient complained of paroxysmal pain around the umbilicus, accompanied by nausea and vomiting. Retrograde intussusceptions after radical total gastrectomy with Uncut Roux-en-Y reconstruction based on exploratory laparotomy. On POD4, the abdominal computed tomography (CT) showed small bowel dilatation and fluid accumulation in the upper abdominal cavity, as well as a small mass of soft tissue on the left side of the pelvis. Small bowel obstruction was considered, and exploratory laparotomy was performed. Retrograde intussusception started just below the jejunojejunal anastomosis with possible organic lesions, which was subsequently removed. The patient recovered well and was discharged 15 days after the second operation. This case report was written for 3 purposes: to increase awareness of this complication after radical total gastrectomy with Uncut-Roux-en-Y reconstruction; to emphasize early diagnosis through clinical manifestation, physical examination, and auxiliary examination with abdominal CT; and lastly, to emphasize that a reasonable surgical procedure should be performed immediately after diagnosis.

Replacing Myalgic Encephalomyelitis and Chronic Fatigue Syndrome with Systemic Exercise Intolerance Disease Is Not the Way forward

PubMed Central

Twisk, Frank N.M.

2016-01-01

Myalgic encephalomyelitis (ME), described in the medical literature since 1938, is characterized by distinctive muscular symptoms, neurological symptoms, and signs of circulatory impairment. The only mandatory feature of chronic fatigue syndrome (CFS), introduced in 1988 and redefined in 1994, is chronic fatigue, which should be accompanied by at least four or more out of eight “additional” symptoms. The use of the abstract, polythetic criteria of CFS, which define a heterogeneous patient population, and self-report has hampered both scientific progress and accurate diagnosis. To resolve the “diagnostic impasse” the Institute of Medicine proposes that a new clinical entity, systemic exercise intolerance disease (SEID), should replace the clinical entities ME and CFS. However, adopting SEID and its defining symptoms, does not resolve methodological and diagnostic issues. Firstly, a new diagnostic entity cannot replace two distinct, partially overlapping, clinical entities such as ME and CFS. Secondly, due to the nature of the diagnostic criteria, the employment of self-report, and the lack of criteria to exclude patients with other conditions, the SEID criteria seem to select an even more heterogeneous patient population, causing additional diagnostic confusion. This article discusses methodological and diagnostic issues related to SEID and proposes a methodological solution for the current “diagnostic impasse”. PMID:26861399

A Diverticular ‘Pain in the Bottom’

PubMed Central

Bardhan, Suchi K; Morgan, Emma; Daniels, Ian R; Mortensen, Neil J

2006-01-01

This is the case of a 40-year-old man with a gluteal abscess as the first presentation of diverticular disease. As well as the unusual site, imaging revealed the lack of a connective tract between the abscess and the abdominal cavity or retroperitoneum. In addition, a lack of gastrointestinal symptoms made this case very unusual. Hence, this highlights the need for a high index of clinical suspicion when the usual clinical pointers that guide to the diagnosis of diverticulitis are absent. PMID:16834842

A diverticular 'pain in the bottom'.

PubMed

Bardhan, Suchi K; Morgan, Emma; Daniels, Ian R; Mortensen, Neil J

2006-07-01

This is the case of a 40-year-old man with a gluteal abscess as the first presentation of diverticular disease. As well as the unusual site, imaging revealed the lack of a connective tract between the abscess and the abdominal cavity or retroperitoneum. In addition, a lack of gastrointestinal symptoms made this case very unusual. Hence, this highlights the need for a high index of clinical suspicion when the usual clinical pointers that guide to the diagnosis of diverticulitis are absent.

A Novel Approach towards Medical Entity Recognition in Chinese Clinical Text

PubMed Central

Yu, Jian

2017-01-01

Medical entity recognition, a basic task in the language processing of clinical data, has been extensively studied in analyzing admission notes in alphabetic languages such as English. However, much less work has been done on nonstructural texts that are written in Chinese, or in the setting of differentiation of Chinese drug names between traditional Chinese medicine and Western medicine. Here, we propose a novel cascade-type Chinese medication entity recognition approach that aims at integrating the sentence category classifier from a support vector machine and the conditional random field-based medication entity recognition. We hypothesized that this approach could avoid the side effects of abundant negative samples and improve the performance of the named entity recognition from admission notes written in Chinese. Therefore, we applied this approach to a test set of 324 Chinese-written admission notes with manual annotation by medical experts. Our data demonstrated that this approach had a score of 94.2% in precision, 92.8% in recall, and 93.5% in F-measure for the recognition of traditional Chinese medicine drug names and 91.2% in precision, 92.6% in recall, and 91.7% F-measure for the recognition of Western medicine drug names. The differences in F-measure were significant compared with those in the baseline systems. PMID:29065612

Identifying Liver Cancer and Its Relations with Diseases, Drugs, and Genes: A Literature-Based Approach

PubMed Central

Song, Min

2016-01-01

In biomedicine, scientific literature is a valuable source for knowledge discovery. Mining knowledge from textual data has become an ever important task as the volume of scientific literature is growing unprecedentedly. In this paper, we propose a framework for examining a certain disease based on existing information provided by scientific literature. Disease-related entities that include diseases, drugs, and genes are systematically extracted and analyzed using a three-level network-based approach. A paper-entity network and an entity co-occurrence network (macro-level) are explored and used to construct six entity specific networks (meso-level). Important diseases, drugs, and genes as well as salient entity relations (micro-level) are identified from these networks. Results obtained from the literature-based literature mining can serve to assist clinical applications. PMID:27195695

The role of clinical pharmacology in molecular genetics

NASA Technical Reports Server (NTRS)

Robertson, D.

1997-01-01

PROBLEM: Discovering the causes of unusual phenotypes in human subjects is an important aspect of patient-oriented research. MATERIAL: The tools of clinical pharmacology are uniquely useful in addressing these problems. PATIENTS, SUBJECTS, OR CASE HISTORIES: We evaluated a 42-year-old patient with lifelong orthostatic hypotension and ptosis of the eyelids. He underwent a series of biochemical, physiological, and pharmacological tests outlined in this article. RESULTS: These studies indicated that sympathetic innervation was intact but that the sympathetic neurotransmitter was dopamine rather than norepinephrine. These results demonstrated that dopamine-beta-hydroxylase deficiency underlies the clinical abnormalities of this patient. CONCLUSION: In selected individuals with unusual phenotypes, the techniques of clinical chemistry and clinical pharmacology can define the nature of the defect at almost the resolution of the human genome.

77 FR 34958 - Draft Guidance for Institutional Review Boards, Clinical Investigators, and Sponsors...

Federal Register 2010, 2011, 2012, 2013, 2014

2012-06-12

... the Agency considers your comment on this draft guidance before it begins work on the final version of... the regulated entities under FDA's and OHRP's jurisdiction. The Agencies wish to stress, however, that... other entities involved in the study oversight transfer process. FDA and OHRP will continue to work...

42 CFR 414.902 - Definitions.

Code of Federal Regulations, 2013 CFR

2013-10-01

... carrier means an entity assigned by CMS to process and pay claims for drugs and biologicals under the CAP... participating CAP physician, in his or her clinical judgment, to require prompt action or attention for purposes... requirements of § 414.906(e) are met. Local carrier means an entity assigned by CMS to process and pay claims...

42 CFR 414.902 - Definitions.

Code of Federal Regulations, 2012 CFR

2012-10-01

... carrier means an entity assigned by CMS to process and pay claims for drugs and biologicals under the CAP... participating CAP physician, in his or her clinical judgment, to require prompt action or attention for purposes... requirements of § 414.906(e) are met. Local carrier means an entity assigned by CMS to process and pay claims...

42 CFR 414.902 - Definitions.

Code of Federal Regulations, 2014 CFR

2014-10-01

... carrier means an entity assigned by CMS to process and pay claims for drugs and biologicals under the CAP... participating CAP physician, in his or her clinical judgment, to require prompt action or attention for purposes... requirements of § 414.906(e) are met. Local carrier means an entity assigned by CMS to process and pay claims...

Cystic renal tumors: new entities and novel concepts.

PubMed

Moch, Holger

2010-05-01

Cystic renal neoplasms and renal epithelial stromal tumors are diagnostically challenging and represent some novel tumor entities. In this article, clinical and pathologic features of established and novel entities are discussed. Predominantly cystic renal tumors include cystic nephroma/mixed epithelial and stromal tumor, synovial sarcoma, and multilocular cystic renal cell carcinoma. These entities are own tumor entities of the 2004 WHO classification of renal tumors. Tubulocystic carcinoma and acquired cystic disease-associated renal cell carcinoma are neoplasms with an intrinsically cystic growth pattern. Both tumor types should be included in a future WHO classification as novel entities owing to their characteristic features. Cysts and clear cell renal cell carcinoma frequently coexist within the kidneys of patients with von Hippel-Lindau disease. Sporadic clear cell renal cell carcinomas often contain cysts, usually as a minor component. Some clear cell renal cell carcinomas have prominent cysts, and multilocular cystic renal cell carcinoma is composed almost exclusively of cysts. Recent molecular findings suggest that clear cell renal cancer may develop through cyst-dependent and cyst-independent molecular pathways.

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

PubMed

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

2015-01-01

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

Circumscribed myositis ossificans of the masseter muscle: report of a case

PubMed Central

PIOMBINO, P.; ORABONA, G. DELL’AVERSANA; ABBATE, V.; FINI, G.; LIBERATORE, G.M.; MICI, E.; BELLI, E.

2013-01-01

Summary Myositis Ossificans (MO) is an unusual pathological entity still largely unknown, characterized by dystrophic calcification leading to heterotopic ossification of intramuscular connective tissue. The masticatory muscles are exceptionally involved. Four distinct types of myositis ossificans have been described: MO Progressiva, which is a genetic disorder involving several muscular groups; MO Circumscripta, limited to a single muscle and generally due to calcification of an intramuscular haematoma following severe trauma and progressive ossification; MO Pseudo-malignant limited to soft tissue and not associated to any trauma; MO associated to paraplegia. A case of circumscribed myositis ossificans of the masseter muscle in a 62 years-old woma is reportedn. PMID:24629814

Large bladder calculus masking a stone in single-system ureterocele.

PubMed

Bhaskar, Ved; Sinha, Rahul Janak; Purkait, Bimalesh; Singh, Vishwajeet

2017-06-14

Ureterocele in an elderly is a rare entity. The presence of stone within ureterocele along with a large bladder calculus is an even rarer presentation. This phenomenon has not been reported so far to the best of our knowledge. We present an unusual case of a large bladder calculus with a concomitant stone in the associated ureterocele. The diagnosis was missed in the first instance due to the masking effect by the larger bladder calculus. Herein, we discuss this case and its management. © 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.

CD5+ true SLL/CLL with plasmacytic differentiation and an unusual 1p36 translocation: case report and review of the literature.

PubMed

Evans, H L; Polski, J M; Deshpande, V; Dunphy, C H

2000-11-01

Lymphoplasmacytic lymphoma (LPL) and small lymphocytic lymphoma/chronic lymphocytic leukemia (SLL/CLL)are distinct clinicopathologic entities. Although some cases of SLL/CLL may show plasmacytic differentiation and be associated with monoclonal immunoglobulin in serum, such cases appear to be very rare, and if plasma cell differentiation were marked, differentiation of SLL/CLL from LPL could be difficult. We report a rare case of true CD5-positive small lymphocytic lymphoma/chronic lymphocytic leukemia with unequivocal plasmacytic differentiation. This case also showed an abnormality of chromosome 1p36 not previously described in small lymphocytic lymphoma/chronic lymphocytic leukemia.

Hypothyroidism-induced myocardial damage and heart failure: an overlooked entity.

PubMed

Shuvy, Mony; Shifman, Oshrat E Tayer; Nusair, Samir; Pappo, Orit; Lotan, Chaim

2009-01-01

Hypothyroid state may induce cardiac muscle impairment such as diastolic dysfunction and abnormal relaxation time. Advanced heart failure in hypothyroid patients has been described only in severe symptomatic cases, mostly during myxedematous coma. We describe an unusual case of asymptomatic patient with hypothyroidism who presented with severely reduced cardiac function with elevated cardiac enzymes reflecting significant myocardial injury. Comprehensive evaluation for heart failure was suggestive only for long-standing untreated hypothyroidism. Endomyocadial biopsy demonstrated unique histological findings of mucopolysaccharide accumulation attributed to hypothyroid state. Asymptomatic hypothyroidism may cause severe reduction in cardiac function accompanied with elevated cardiac enzymes. To our knowledge, this is the first description of human myocardial biopsy revealing mucopolysaccharide accumulation attributed to hypothyroid state.

PEComa of the mesentery coexisting with colon cancer: a case report.

PubMed

Wejman, Jarosław; Nowak, Krzysztof; Gielniewska, Lena; Komorowska, Magdalena; Dąbrowski, Wojciech

2015-04-18

Perivascular epithelioid cell tumor (PEComa) is a rare entity originating from mesenchymal tissue, which stains for both melanocytic and smooth muscle markers. We would like to present an unusual case of the PEComa of the mesentery which was unexpected discovery in a female patient with colonic adenocarcinoma. The tumour was revealed on the computer tomography and then resected during surgery, with subsequent chemotherapy for the colon adenocarcinoma. Furthermore we would like to discuss PEComa biology, emphasizing histological criteria of malignancy, possible treatment options and differential diagnosis which is mostly based on immunohistochemistry. Virtual slides: The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/1809062291157051 .

Anal canal duplication and triplication: a rare entity with different presentations.

PubMed

Palazon, P; Julia, V; Saura, L; de Haro, I; Bejarano, M; Rovira, C; Tarrado, X

2017-05-01

Anal canal duplication (ACD) is the rarest of gastrointestinal duplications. Few cases have been reported. Most cases present as an opening in the midline, posterior to the normal anus. The aim of our revision is to contribute with eight new cases, some of them with unusual presentations: five presented as the typical form, one with a perianal nodule, and two presented as two separate orifices (anal canal triplication). Complete excision was performed in all patients with no complications. ACD is the most distal and the least frequent digestive duplication. Its treatment should be surgical excision, to avoid complications such as abscess, fistulization, or malignization. Anal canal triplication has never been described before.

Flux dynamics and magnetovoltage measurements in a macroscopic cylindrical hole drilled in BSCCO

NASA Astrophysics Data System (ADS)

Yetiş, H.; Altinkok, A.; Olutaş, M.; Kiliç, A.; Kiliç, K.

2007-10-01

Slow transport relaxation measurements (V-t curves) and magnetovoltage measurements (V-H curves) were carried out in a polycrystalline sample of Bi1.7Pb0.3Sr2Ca2Cu3Ox (BSCCO) with a macroscopic cylindrically drilled hole (CH). The time evolution of quenched state in V-t curves was interpreted in terms of enhancement of the superconducting order parameter and the relaxation of moving entity. Upon cycling of the external magnetic field with different sweep rates, unusual counter clockwise hysteresis effects and asymmetry in V-H curves are observed in BSCCO sample with CH, which can also be correlated to the trapping of the macroscopic flux bundles in CH.

Update on Genetic Conditions Affecting the Skin and the Kidneys

PubMed Central

Reimer, Antonia; He, Yinghong; Has, Cristina

2018-01-01

Genetic conditions affecting the skin and kidney are clinically and genetically heterogeneous, and target molecular components present in both organs. The molecular pathology involves defects of cell–matrix adhesion, metabolic or signaling pathways, as well as tumor suppressor genes. This article gives a clinically oriented overview of this group of disorders, highlighting entities which have been recently described, as well as the progress made in understanding well-known entities. The genetic bases as well as molecular cell biological mechanisms are described, with therapeutic applications. PMID:29552546

[Isotretinoin embryopathy: An entity that can be avoided].

PubMed

Cammarata-Scalisi, Francisco; Nieves, Dairelis; Avendaño, Andrea; Lacruz-Rengel, María A; Alviárez, Karelys; Dávila, Francys; Yavuz, Izzet; Callea, Michele

2018-04-01

Isotretinoin is the most effective drug in the treatment of severe recalcitrant nodulocystic acne. However, treatment with this drug is associated with adverse effects, the most severe being teratogenesis. It has been estimated that 40% of pregnancies exposed to isotretinoin present spontaneous abortion and 35% develop embryopathy. We present the case of a newborn with a history of prenatal exposure to isotretinoin, a clinical entity that can be avoided, with severe congenital defects in the central nervous system and important facial dysmorphisms, with unfavorable clinical course. Sociedad Argentina de Pediatría.

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

PubMed

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

2017-06-01

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

The clinical entity of remitting seronegative synovitis with pitting edema (RS3PE syndrome).

PubMed

Triplett, L M; Pfister, A K

2001-01-01

Remitting seronegative symmetrical synovitis with pitting edema is a clinical entity distinct from polymyalgia rheumatica arthritis appearing in elderly patients. Distal pitting edema and tenosynovitis of the digitorum tendons are characteristically seen in this disorder. In contrast to polymyalgia rheumatica and rheumatoid arthritis, treatment with low-dose glucocorticoids usually produces a prompt and enduring remission after several months. Follow-up evaluations are necessary not only to assure this diagnosis is posterior, but also to observe for the possible occurrence of associated neoplasms.

Normothermic thyroid storm: an unusual presentation

PubMed Central

Sabir, Anas Ahmad; Sada, Kabiru; Yusuf, Bashir O.; Aliyu, Idris

2016-01-01

Thyroid storm is a rare life-threatening emergency due to thyrotoxicosis. A 30-year-old female presented with restlessness, tachycardia and vomiting but with normothermia which is an unusual presentation. There is the need for clinicians to be aware of atypical clinical features that can make the diagnosis of thyroid storm difficult. PMID:27540465

An unusual case of electrode misplacement: left arm and V(2) electrode reversal.

PubMed

García-Niebla, Javier; García, Pablo Llontop

2008-01-01

Accidental interchange between precordial and limb leads, although unusual, can be possible given that some of them share the same color. We present the case where interchange of V(2) and left arm cables produced significant electrocardiographic abnormalities, which created many doubts and discussion within the clinical team.

Pemphigus vegetans: An unusual presentation

PubMed Central

Dhamija, Ashish; D’souza, Paschal; Meherda, Ashok; Kothiwala, Raj K.

2012-01-01

Pemphigus vegetans is a rare variant of pemphigus vulgaris that is characterized by vegetating lesions primarily in the flexures. We report a 45-year-old male patient with an unusual presentation of the disease. A careful analysis of the clinical and laboratory findings enabled us to reach a diagnosis and successfully treat the patient. PMID:23189253

Endodontic treatment of an unusual connation of permanent mandibular molars: a case report.

PubMed

Liu, Shengbo; Fan, Bing; Peng, Bin; Fan, Mingwen; Bian, Zhuan

2006-10-01

A 27-year-old patient with an anomalous mandibular molar was referred for endodontic therapy. Clinical and radiographic examination revealed the connation of a second mandibular molar with a third molar. Challenging endodontic therapy was performed in the unusual connated molars. A 2-year recall showed good treatment result.

Is the common cold a clinical entity or a cultural concept?

PubMed

Eccles, R

2013-03-01

Common cold is the most common infectious disease of mankind and the term is widely used in the clinical literature as though it were a defined clinical syndrome. Clinical studies on this syndrome often use elaborate symptom scoring systems to diagnose a common cold. The symptom scores are based on a study conducted over 50 years ago to retrospectively diagnose experimental cold and this method cannot be applied to diagnosis of common cold in the community. Diagnosis of the common cold by virology is not feasible because of the number of viruses and the variability in the disease states caused by the viruses. Because of the familiarity of subjects with common cold and the variability in symptomatology it seems a more reasonable approach to use self-diagnosis of common cold for clinical research studies and accept that the common cold is a cultural concept and not a clinical entity.

Adenoid cystic carcinoma: An unusual presentation.

PubMed

Pushpanjali, M; Sujata, D Naga; Subramanyam, S Bala; Jyothsna, M

2014-05-01

The adenoid cystic carcinoma is a relatively rare epithelial tumor of the major and minor salivary glands, accounting for about 1% of all malignant tumor of the oral and maxillofacial regions. Peak incidence occurs between the 5(th) and 6(th) decades of life. The clinical and pathological findings typical of this tumor include slow growth, peri-neural invasion, multiple local recurrences and distant metastasis. Herein, we report a case of adenoid cystic carcinoma of oropharynx with unusual clinical presentation. The diagnosis of this case and importance of cytology in diagnosing such cases is discussed.

Adenoid cystic carcinoma: An unusual presentation

PubMed Central

Pushpanjali, M; Sujata, D Naga; Subramanyam, S Bala; Jyothsna, M

2014-01-01

The adenoid cystic carcinoma is a relatively rare epithelial tumor of the major and minor salivary glands, accounting for about 1% of all malignant tumor of the oral and maxillofacial regions. Peak incidence occurs between the 5th and 6th decades of life. The clinical and pathological findings typical of this tumor include slow growth, peri-neural invasion, multiple local recurrences and distant metastasis. Herein, we report a case of adenoid cystic carcinoma of oropharynx with unusual clinical presentation. The diagnosis of this case and importance of cytology in diagnosing such cases is discussed. PMID:25328314

Melorheostosis: a rare entity: a case report.

PubMed

Kherfani, Abdelhakim; Mahjoub, Hachem

2014-01-01

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

Melorheostosis: a rare entity: a case report

PubMed Central

Kherfani, Abdelhakim; Mahjoub, Hachem

2014-01-01

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

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

PubMed

van Poll, Daan; van der Zee, David C

2012-08-01

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

[The clinical view through the Archives: the clinical notes of 2009].

PubMed

Samolski, Daniel; Martín Robles, Irene; Castillo Villegas, Diego

2010-12-01

The Clinical Notes published in 2009 serve as a resource to reflect on clinical aspects relevant to different clinical entities. Through this review an attempt is likewise made to bring the reader closer to the clinical reality of our environment. Copyright © 2010 SEPAR. Published by Elsevier Espana. All rights reserved.

Body integrity identity disorder: the persistent desire to acquire a physical disability.

PubMed

First, Michael B; Fisher, Carl E

2012-01-01

Body integrity identity disorder (BIID) is a rare and unusual psychiatric condition characterized by a persistent desire to acquire a physical disability (e.g., amputation, paraplegia) since childhood that to date has not been formally described in the psychiatric nosology. Most BIID sufferers experience a chronic and dysphoric sense of inappropriateness regarding their being able-bodied, and many have been driven to actualize their desired disability through surreptitious surgical or other more dangerous methods. This review aims to characterize the history and phenomenology of this condition, to present its differential diagnosis, and to consider possible etiologies, treatment options, and ethical considerations. Review of the psychiatric and neurological literature. A growing body of data suggests the existence of a discrete entity with onset by early adolescence and a negative impact on functioning. Parallel neurological conditions and preliminary experimental investigations suggest a possible neurobiological component in at least a portion of cases. While attempts at treatment have been described, no systematic evidence for efficacy has emerged. BIID is a unique nosological entity with significant consequences for its sufferers and as such may warrant inclusion in some form in the forthcoming DSM-5 and ICD-11. Copyright © 2011 S. Karger AG, Basel.

Naming unique entities in the semantic variant of primary progressive aphasia and Alzheimer's disease: Towards a better understanding of the semantic impairment.

PubMed

Montembeault, M; Brambati, S M; Joubert, S; Boukadi, M; Chapleau, M; Laforce, R Jr; Wilson, M A; Macoir, J; Rouleau, I

2017-01-27

While the semantic variant of primary progressive aphasia (svPPA) is characterized by a predominant semantic memory impairment, episodic memory impairments are the clinical hallmark of Alzheimer's disease (AD). However, AD patients also present with semantic deficits, which are more severe for semantically unique entities (e.g. a famous person) than for common concepts (e.g. a beaver). Previous studies in these patient populations have largely focused on famous-person naming. Therefore, we aimed to evaluate if these impairments also extend to other semantically unique entities such as famous places and famous logos. In this study, 13 AD patients, 9 svPPA patients, and 12 cognitively unimpaired elderly subjects (CTRL) were tested with a picture-naming test of non-unique entities (Boston Naming Test) and three experimental tests of semantically unique entities assessing naming of famous persons, places, and logos. Both clinical groups were overall more impaired at naming semantically unique entities than non-unique entities. Naming impairments in AD and svPPA extended to the other types of semantically unique entities, since a CTRL>AD>svPPA pattern was found on the performance of all naming tests. Naming famous places and famous persons appeared to be most impaired in svPPA, and both specific and general semantic knowledge for these entities were affected in these patients. Although AD patients were most significantly impaired on famous-person naming, only their specific semantic knowledge was impaired, while general knowledge was preserved. Post-hoc neuroimaging analyses also showed that famous-person naming impairments in AD correlated with atrophy in the temporo-parietal junction, a region functionally associated with lexical access. In line with previous studies, svPPA patients' impairment in both naming and semantic knowledge suggest a more profound semantic impairment, while naming impairments in AD may arise to a greater extent from impaired lexical access, even though semantic impairment for specific knowledge is also present. These results highlight the critical importance of developing and using a variety of semantically-unique-entity naming tests in neuropsychological assessments of patients with neurodegenerative diseases, which may unveil different patterns of lexical-semantic deficits. Copyright © 2016 Elsevier Ltd. All rights reserved.

Skull Base Inverted Papilloma: A Comprehensive Review

PubMed Central

Wassef, Shafik N.; Batra, Pete S.; Barnett, Samuel

2012-01-01

Skull base inverted papilloma (IP) is an unusual entity for many neurosurgeons. IP is renowned for its high rate of recurrence, its ability to cause local destruction, and its association with malignancy. This paper is a comprehensive review of the reports, studies, and reviews published in the current biomedical literature from 1947 to September 2010 and synthesize this information to focus on its potential invasion to the base of the skull and possible intradural extension. The objective is to familiarize the clinician with the different aspects of this unusual disease. The role of modern diagnostic tools in medical imaging in order to assess clearly the limits of the tumors and to enhance the efficiency and the safety in the choice of a surgical approach is pointed out. The treatment guidelines for IP have undergone a complex evolution that continues today. Radical excision of the tumour is technically difficult and often incomplete. Successful management of IP requires resection of the affected mucosa which could be achieved with open surgery, endoscopic, or combined approach. Radio and chemotherapy were used for certain indications. More optimally research would be a multicenter randomized trials with large size cohorts. PMID:23346418

[CLINICAL ENTITIES AND CHARACTERISTICS OF PAIN IN PATIENTS WITH RHEUMATIC DISEASES].

PubMed

Prus, Višnja; Kardum, Željka

Musculoskeletal pain is the most common symptom present in almost all rheumatic diseases. Rheumatic diseases include more than 150 clinical entities. There is no uniform classification of rheumatic diseases. In general, we distinguish inflammatory rheumatic diseases, non-inflammatory degenerative articular diseases, systemic connective tissue diseases, metabolic disorders with articular manifestations, and regional and extended pain syndromes. According to the International Association for the Study of Pain (IASP), pain is defined as an unpleasant sensation associated with tissue damage or reported simultaneously with such damage. Pain has a physical, mental, and social component. In rheumatic diseases the pain is mostly chronic and may severely impair the patient’s general condition. The defining criteria involve a period of more than 3 or 6 months, and according to some definitions more than 6 weeks. In most cases the pain is nociceptive rather than neuropathic. Musculoskeletal pain, especially chronic pain, is a global public health problem because of its prevalence, as well as the frequently associated muslculoskeletal function impairment and development of chronic pain syndrome, which can be considered as a separate clinical entity and requires a biopsychosocial treatment approach.

Unusual Surprises in Glaucoma Filtering Surgeries: Lessons Learned and Review of Literature.

PubMed

Rao, Aparna; Padhy, Debananda; Roy, Avik Kumar; Senthil, Sirisha

2018-01-01

To describe an unusual series of complications after glaucoma filtering surgeries with their clinical findings and outcome after tailored non-conventional modes of therapy. Eighteen patients who underwent re-interventions (medical or surgical) after glaucoma filtering surgeries during the period at two tertiary centers, excluding those that required conventional modes of treatment (medical control or re-trabeculectomy, simple wound closure for traumatic wound dehiscence, bleb revision or needling, laser iridotomy), were included. Relevant clinical details with intraoperative videos, intraoperative or postoperative problems, and images with course after re-intervention were retrieved from the hospital database. Clinical details which helped in clinching diagnosis and cause for problems and course after intervention with final vision and intraocular pressure were evaluated. Six of 18 eyes required surgical management for an unusual course of events after an uneventful filtering surgery. Bleb morphology and close follow-up of the conjunctiva, in addition to intraocular pressure (IOP) and anterior chamber (AC) configuration, helped diagnose possible aetiology and appropriate tailored management. All patients had good IOP and visual outcome in all except one with macular scar status after retinal detachment surgery. Assessment of the bleb morphology in the postoperative course coupled with monitoring of the conjunctival wound are essential to conventional monitoring of IOP and anterior chamber configuration to arrive at appropriate management for rare unusual events after glaucoma surgery.

Unusual Dermatological Manifestations of Gout: Review of Literature and a Case Report

PubMed Central

Ortega, Viviana Gómez; Gaona, Jennifer; Motta, Adriana; Medina Barragán, Oskar Javier

2015-01-01

Background: Gouty panniculitis is a rare clinical manifestation of gout, characterized by deposits of monosodium urate crystals in the hypodermis. Our aim was to describe atypical and rare clinical presentations of gouty tophi. Methods: We searched relevant English and Spanish literature of unusual gout manifestations using the following keywords: giant, gout, panniculitis, gouty panniculitis, gouty tophi, rare manifestations of gout, gouty, tophi, tophus, monosodium urate, uric acid, and unusual. Well-described case reports, case series, and review articles were evaluated and included in the literature review. Results: International literature has reported fewer than 10 cases of gouty panniculitis worldwide. In this case report, the patient presents a rare manifestation of gouty panniculitis, with typical joint injuries, gouty tophi in both lower and upper extremities, chronic gouty tophi in the nose, for which only 3 cases have been reported in literature, and great hypertrophy of adipose tissue in the lower back. Conclusions: Tophi can be found in atypical locations, which increase morbidities and deformities caused by the disease. We report an interesting case of gouty panniculitis associated with great hypertrophy of the adipose tissue, a rare manifestation of gout, and unusual locations of tophi. These clinical manifestations in our patient have not been recorded before, which leads us to think that we are in the presence of a new dermatological manifestation of gout. PMID:26301134

Unusual Laboratory Findings in a Case of Norwegian Scabies Provided a Clue to Diagnosis

PubMed Central

Wong, Samson S. Y.; Woo, Patrick C. Y.; Yuen, Kwok-yung

2005-01-01

The diagnosis of Norwegian scabies was missed for a year for an elderly long-term-care facility resident. Serpiginous tracks were noted on the surface of Sabouraud dextrose agar used for fungal culture of the skin scrapings. This unusual laboratory manifestation must alert clinical microbiologists to the possible diagnosis of scabies. PMID:15872307

Unusual presentation of anaplastic large cell lymphoma with clinical course mimicking fever of unknown origin and sepsis: autopsy study of five cases.

PubMed

Mosunjac, Marina B; Sundstrom, J Bruce; Mosunjac, Mario I

2008-10-01

To describe a subset of cases with the unusual clinical and histomorphological presentation of anaplastic large cell lymphoma (ALCL) mimicking fever of unknown origin (FUO) and sepsis. A pathology database was searched using full term Systematized Nomenclature of Medicine codes for ALCL to identify 23ALCL cases from the period 1999-2006. Of those, five cases that did not have a correct premortem diagnosis were further analyzed to elucidate the reasons for delayed and incorrect pre-mortem diagnosis. The analyzed data included clinical presentation, duration of symptoms, duration of hospital stay, premortem presumed cause of death, white blood cell count, platelet count, anion gap and blood pH, liver enzymes (alanine aminotransferase, aspartate aminotransferase, lactate dehydrogenase, alkaline phosphatase), lactate, coagulation tests (prothrombin time, partial thromboplastin time, fibrinogen, D-dimers), microbiology cultures, and radiology and surgical pathology reports. Autopsy reports were reviewed for description of major gross findings, initial clinical diagnosis, and cause of death. Five fatal and pre-mortem unrecognized ALCL cases were characterized by rapid decline, with histologic findings showing predominantly extranodal involvement, intravascular lymphomatosis, and hemophagocytosis. The cases were also characterized by unusual clinical manifestations including a FUO, sepsis, and disseminated intravascular coagulation-like picture, lactic acidosis, hepatosplenomegaly, and absence of significant peripheral adenopathy. There is a distinct group of ALCLs with unique and specific clinical, gross autopsy, and histopathologic findings. Recognition of this clinical variant may facilitate early detection and potentially timely diagnosis and therapy.

Urologic sequelae of childhood genitourinary trauma and abuse in men: principles of recognition with fifteen case illustrations.

PubMed

McCarty, T; Roberts, L W; Hendrickson, K

1996-05-01

Providing urologic care to men who have been traumatized during childhood may be especially challenging because of the extent, severity, and unusual character of their urogenital problems. Recognition of past trauma entails attentiveness to patients' background and behaviors. As illustrated through these 15 cases, patients who present with too many past surgeries, too many unremitting urologic complaints, too little sexual function and too few genital parts, sexual impulses that are too strong, sexualized conduct in clinical settings, and self-destructive behaviors surrounding sexuality may have experienced trauma in the past. While empirical studies are necessary to demonstrate the ultimate utility of these categories, appreciation of these clinical indications improves the urologic care provided to traumatized men in four ways: by elucidating unusual and unusually recalcitrant urologic complaints, thereby clarifying clinical decisions; by allowing for appropriate use of psychiatric consultation; by promoting a better understanding of the sequelae of trauma in men; and by alleviating the discomfort naturally felt by urologists and their staff when caring for these difficult, multiproblem patients.

Early- and late-onset Alzheimer disease: Are they the same entity?

PubMed

Tellechea, P; Pujol, N; Esteve-Belloch, P; Echeveste, B; García-Eulate, M R; Arbizu, J; Riverol, M

2018-05-01

Early-onset Alzheimer disease (EOAD), which presents in patients younger than 65 years, has frequently been described as having different features from those of late-onset Alzheimer disease (LOAD). This review analyses the most recent studies comparing the clinical presentation and neuropsychological, neuropathological, genetic, and neuroimaging findings of both types in order to determine whether EOAD and LOAD are different entities or distinct forms of the same entity. We observed consistent differences between clinical findings in EOAD and in LOAD. Fundamentally, the onset of EOAD is more likely to be marked by atypical symptoms, and cognitive assessments point to poorer executive and visuospatial functioning and praxis with less marked memory impairment. Alzheimer-type features will be more dense and widespread in neuropathology studies, with structural and functional neuroimaging showing greater and more diffuse atrophy extending to neocortical areas (especially the precuneus). In conclusion, available evidence suggests that EOAD and LOAD are 2 different forms of a single entity. LOAD is likely to be influenced by ageing-related processes. Copyright © 2015 Sociedad Española de Neurología. Publicado por Elsevier España, S.L.U. All rights reserved.

Phenotypic variability in familial prion diseases due to the D178N mutation

PubMed Central

Zarranz, J; Digon, A; Atares, B; Rodriguez-Martine..., A; Arce, A; Carrera, N; Fernandez-Manchol..., I; Fernandez-Martine..., M; Fernandez-Maizteg..., C; Forcadas, I; Galdos, L; Gomez-Esteban, J; Ibanez, A; Lezcano, E; d Lopez; Marti-Masso, J; Mendibe, M; Urtasun, M; Uterga, J; Saracibar, N; Velasco, F; de Pancorbo, M M

2005-01-01

Background: Between January 1993 and December 2003, 19 patients with familial prion diseases due to the D178N mutation were referred to the regional epidemiological registry for spongiform encephalopathies in the Basque Country in Spain, a small community of some 2 100 000 inhabitants. Methods: Ten further patients belonging to the same pedigrees were retrospectively ascertained through neurological or neuropathological records. In four of the patients, the diagnosis was confirmed by analysing DNA obtained from paraffin blocks. In this article, we report on the clinical, genetic, and pathological features of the 23 patients carrying the D178N mutation confirmed by genetic molecular analysis. Haplotyping studies suggest a founder effect among Basque born families, explaining in part this unusually high incidence of the D178N mutation in a small community. Only two patients (8%) lack familial antecedents. Results: We have observed a phenotypic variability even among homozygous 129MM patients. Our findings challenge the currently accepted belief that MM homozygosity in codon 129 is always related to a fatal familial insomnia (FFI) phenotype. Indeed, seven out of 17 patients with a 129MM genotype in this series presented with a Creutzfeldt-Jakob disease (CJD) clinicopathological picture. Conclusions: The considerable clinical and pathological overlapping observed among homozygous 129MM patients favours the view that FFI and CJD178 are the extremes of a spectrum rather than two discrete and separate entities. Other genetic or environmental factors apart from the polymorphism in codon 129 may play a role in determining the phenotypic expression of the D178N mutation in the PRNP gene. PMID:16227536

Phosphaturic mesenchymal tumour mixed connective tissue variant: report of three cases with unusual histological findings.

PubMed

Shustik, David A; Ng, David Ce; Sittampalam, Kesavan

2015-01-01

Phosphaturic mesenchymal tumour mixed connective tissue variant (PMTMCT) is a rare tumour occurring in bone and soft tissue that usually behaves in a benign manner. Elaboration of biologically active substances by this tumour gives rise to a paraneoplastic syndrome known as oncogenic osteomalacia, manifesting clinically as bone pain, generalized weakness and pathological fractures. Recognition of PMTMCT and its associated syndrome is important, as resection of the tumour in most instances results in prompt resolution of symptoms. Previously reported cases of this tumour have emphasized the consistent presence of certain histological features that are considered prerequisite for making the diagnosis of PMTMCT. We describe three cases of PMTMCT, of which two first presented with progressive symptoms of osteomalacia and one remained clinically silent aside from the symptom of a palpable lump. Our cases highlight the wide-ranging histological patterns displayed by these tumours, and draw attention to certain microscopic findings that until now have been given little if any mention. Tentacular growth pattern and satellite nodules appear to be common findings in PMTMCTs, and can make complete surgical excision of these tumours challenging. The ability of this otherwise histologically benign tumour to permeate vascular spaces has to our knowledge never been described previously. One tumour lacked the characteristic calcifying matrix of PMTMCT, suggesting that in some tumours this defining feature may be focal if not entirely absent. PMTMCT shares features with and can resemble a variety of bone and soft tissue neoplasms, requiring the surgical pathologist to be familiar with this entity.

Phosphaturic mesenchymal tumour mixed connective tissue variant: report of three cases with unusual histological findings

PubMed Central

Shustik, David A; Ng, David CE; Sittampalam, Kesavan

2015-01-01

Phosphaturic mesenchymal tumour mixed connective tissue variant (PMTMCT) is a rare tumour occurring in bone and soft tissue that usually behaves in a benign manner. Elaboration of biologically active substances by this tumour gives rise to a paraneoplastic syndrome known as oncogenic osteomalacia, manifesting clinically as bone pain, generalized weakness and pathological fractures. Recognition of PMTMCT and its associated syndrome is important, as resection of the tumour in most instances results in prompt resolution of symptoms. Previously reported cases of this tumour have emphasized the consistent presence of certain histological features that are considered prerequisite for making the diagnosis of PMTMCT. We describe three cases of PMTMCT, of which two first presented with progressive symptoms of osteomalacia and one remained clinically silent aside from the symptom of a palpable lump. Our cases highlight the wide-ranging histological patterns displayed by these tumours, and draw attention to certain microscopic findings that until now have been given little if any mention. Tentacular growth pattern and satellite nodules appear to be common findings in PMTMCTs, and can make complete surgical excision of these tumours challenging. The ability of this otherwise histologically benign tumour to permeate vascular spaces has to our knowledge never been described previously. One tumour lacked the characteristic calcifying matrix of PMTMCT, suggesting that in some tumours this defining feature may be focal if not entirely absent. PMTMCT shares features with and can resemble a variety of bone and soft tissue neoplasms, requiring the surgical pathologist to be familiar with this entity. PMID:26261662

8p11 myeloproliferative syndrome: diagnostic challenges and pitfalls.

PubMed

Antic, Darko A; Vukovic, Vojin M; Milosevic Feenstra, Jelena D; Kralovics, Robert; Bogdanovic, Andrija D; Dencic Fekete, Marija S; Mihaljevic, Biljana S

2016-01-01

8p11 myeloproliferative syndrome (EMS) is a very rare clinicopathological entity which is characterized by the appearance of a myeloproliferative neoplasm in the bone marrow, peripheral lymphadenopathy, usually caused by T or B lymphoblastic lymphoma/leukemia, and a reciprocal translocation involving chromosome 8p11. Herein we describe a 22-year-old male patient with unusual clinical presentation of EMS. Namely, he initially presented with prolonged epistaxis. Complete blood count showed elevated hemoglobin (17.7g/dl), thrombocytopenia (98x109/l) and leukocytosis (57x109/l). Bone marrow aspirate and biopsy findings corresponded with the presence of a myeloproliferative neoplasm while cytogenetic analysis revealed t(8;13)(p11q12). After that ZMYM2-FGFR1 in-frame fusion was confirmed at the molecular level. Immediately after establishing the diagnosis of a myeloproliferative neoplasm (MPN) generalized lymphadenopathy was developed. Histopathologic examination of lymph node sample confirmed the diagnosis of a T cell lymphoblastic lymphoma without bone marrow involvement. Four cycles of Hyper CVAD chemotherapy were administered with complete morphological and cytogenetic remission. Four weeks after evaluation, patient developed peripheral blood monocytosis and eosinophilia without bone marrow criteria for acute leukemia. Cytogenetic analysis showed t(8;13) accompanied by complex numerical and structural aberrations. The patient underwent allogeneic stem cell transplantation (allo-SCT) from HLA matched sister and he subsequently achieved complete remission. In conclusion, patients with MPN and translocations involving chromosome 8 need to be carefully evaluated for EMS. However, having in mind the very aggressive clinical course of EMS allo-SCT is the only potential curative option.

Splenic torsion, a challenging diagnosis: Case report and review of literature.

PubMed

Viana, C; Cristino, H; Veiga, C; Leão, P

2018-01-01

Wandering spleen is an unusual condition characterized by hypermobility of the spleen. This is a rare clinical entity and it's more common in childhood under 1 year of age and in third decade of life. In this second peak, it's more frequent in females. Clinical manifestations can vary from asymptomatic to abdominal emergency. Treatment is often surgical. We presented a case report of splenic torsion from our hospital and a review of cases described in literature. This is a 40 year-old woman with complaints of upper abdominal pain associated with nausea and vomiting. A marked tenderness and a palpable abdominal mass on left hypochondrium were found as well as a slight increase in inflammatory parameters. A CT was performed and demonstrated findings compatible with splenic torsion. Surgery was performed doing laparoscopic splenectomy; Review of literature was made using the keyword combination: "wandering spleen". The research resulted in 451 articles. The physical examination and CT are fundamental for diagnosis. Surgery was performed and laparoscopic splenectomy was made because infarcted spleen; about the review of literature, the majority of patients were female and the average age at the time of diagnosis was 25.2 years. 69.5% needed splenectomy and 78.6% of surgeries were laparotomic. Splenic torsion is a rare but important differential diagnosis in patients presenting with acute abdomen. Diagnosis should be made promptly before development of life-threatening complications. Surgery is often necessary and splenopexy or splenectomy can be done. Copyright © 2018 The Authors. Published by Elsevier Ltd.. All rights reserved.

Psoas abscess masquerading as a prosthetic hip infection: A case report.

PubMed

Atif, Muhammad; Malik, Azeem Tariq; Noordin, Shahryar

2018-01-01

Psoas abscess is an unusual condition and is defined as a collection of pus in the iliopsoas compartment. Due to the unique anatomy of psoas muscle it forms a conduit for spread of infection from upper part of body to hip joint in neglected cases. A 67year old lady presented with left groin pain for three weeks. She underwent an uncemented unipolar hemiarthoplasty eight years back. Currently, she developed fever and was unable to do any active left hip range of motion. Passive motion of the left hip was restricted to 30° flexion, no internal rotation, 5° external rotation, and 10° abduction. Lab workup showed raised serum infective markers and radiographs of pelvis were normal with no evidence of any radiolucency. Ultrasound guided aspiration of left hip joint showed E coli. Arthrotomy revealed clear fluid in hip joint but pus was drained at psoas insertion. Later on, culture reported presence of E. coli and biopsy confirmed psoas abscess. Postoperatively CT scan abdomen showed pyelonephritis. Antibiotics were given for three months. Twenty months later, she remains asymptomatic without evidence of infection with normal gait. Psoas abscess is a rare clinical entity that may mimic symptoms of a primary prosthetic hip infection. Treatment outcomes are directly related to early detection with adequate dissection of the psoas muscle up to sites of attachment and complete eradication of infection. This case highlights importance of thorough initial clinical examination, lab workup and radiological assessment to rule out rare causes of hip joint pain. Copyright © 2017. Published by Elsevier Ltd.

Spectrum of MRI findings in clinical athletic pubalgia.

PubMed

Zajick, Donald C; Zoga, Adam C; Omar, Imran M; Meyers, William C

2008-03-01

Athletic pubalgia is a frequently encountered syndrome for clinicians who treat active patients participating in a wide variety of athletic endeavors worldwide. Pathologies associated with this clinical scenario span anatomically from the pubic symphysis to the hip and include a myriad of poorly understood and incompletely described musculoskeletal entities, many of which are centered about the pubic symphysis and its tendinous attachments. In this article, we discuss the relevant anatomy and pathophysiology for the most frequently encountered of these disorders, using magnetic resonance (MR) images as a guide. We describe an MR imaging protocol tailored to clinical athletic pubalgia. We then review reproducible MRI patterns of pathology about the pubic symphysis, the rectus abdominis/adductor aponeurosis and the inguinal ring, as well as a group of clinically confounding entities remote from the symphysis but visible by MRI.

Intrathyroid metastasis presenting as a solitary thyroid nodule: an unusual case of clinically silent lung cancer.

PubMed

Sharma, U K; Rauniyar, R K; Adhikary, S; Sinha, A

2008-01-01

Metastases in the thyroid gland are very rare. Carcinoma lung is one of the tumours, which may metastasize to the thyroid. We report a 60-year-old lady with intrathyroid metastasis presenting as a solitary thyroid nodule. Fine needle aspiration cytology from the nodule showed features of metastatic adenocarcinoma. Further detail evaluation revealed primary lung adenocarcinoma with secondaries to adrenals, retroperitoneal and bilateral axillary nodes. This report emphasizes this unusual clinical presentation of carcinoma lung with wide spread secondaries; and a solitary thyroid nodule can be a presenting complain of a metastatic disease.

Nail Scabies: An Unusual Presentation Often Overlooked and Mistreated.

PubMed

Tempark, Therdpong; Lekwuttikarn, Ramrada; Chatproedprai, Susheera; Wananukul, Siriwan

2017-04-01

Nail scabies is an interesting clinical presentation of scabies. Although it is usually found concomitant with characteristic dermatologic manifestations, it may present as an isolated finding in the immunocompromised host. This condition is commonly mistaken with other diseases such as nail dystrophy, nail psoriasis and onychomycosis. We report two cases of unusual nail presentations that provide clues to diagnosis. Also, literature on unusual nail and dermatologic presentations was reviewed to recognize dermatologist consideration for appropriate treatment options. © The Author [2016]. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

Cutaneous Manifestations of Non-Celiac Gluten Sensitivity: Clinical Histological and Immunopathological Features.

PubMed

Bonciolini, Veronica; Bianchi, Beatrice; Del Bianco, Elena; Verdelli, Alice; Caproni, Marzia

2015-09-15

The dermatological manifestations associated with intestinal diseases are becoming more frequent, especially now when new clinical entities, such as Non-Celiac Gluten Sensitivity (NCGS), are identified. The existence of this new entity is still debated. However, many patients with diagnosed NCGS that present intestinal manifestations have skin lesions that need appropriate characterization. We involved 17 patients affected by NCGS with non-specific cutaneous manifestations who got much better after a gluten free diet. For a histopathological and immunopathological evaluation, two skin samples from each patient and their clinical data were collected. The median age of the 17 enrolled patients affected by NCGS was 36 years and 76% of them were females. On the extensor surfaces of upper and lower limbs in particular, they all presented very itchy dermatological manifestations morphologically similar to eczema, psoriasis or dermatitis herpetiformis. This similarity was also confirmed histologically, but the immunopathological analysis showed the prevalence of deposits of C3 along the dermo-epidermal junction with a microgranular/granular pattern (82%). The exact characterization of new clinical entities such as Cutaneous Gluten Sensitivity and NCGS is an important objective both for diagnostic and therapeutic purposes, since these are patients who actually benefit from a GFD (Gluten Free Diet) and who do not adopt it only for fashion.

Two Cases of Melasma with Unusual Histopathologic Findings

PubMed Central

Kang, Won-Hyoung

2006-01-01

We reported two cases of clinically typical melasma presenting with unusual histopathologic findings. In one case, the epidermal melanocytes were markedly increased in number and protruded into the dermis, and in the other case, increased epidermal pigmentation as well as dermal melanocytosis were found. We suggested that the various treatment modalities of melasma should be applied depend on its histopathologic finding. PMID:16614533

Lymphoepithelioma-like carcinoma of the vulva, an underrecognized entity? Case report with a single inguinal micrometastasis detected by sentinel node technique.

PubMed

Bösmüller, Hans; Haitchi-Petnehazy, Sophie; Gruber, Christine; Roithmeier, Franz; Stummvoll, Wolfgang; Webersinke, Gerald

2011-01-10

This report describes an unusual EBV-negative lymphoepithelioma-like carcinoma of the vulva in a 73-year-old patient. The lesion was localised at the right minor labium and was resected by partial vulvectomy. A synchronous sentinel lymph node biopsy revealed a single micrometastasis in the right inguinal region, which prompted local radiotherapy. Follow-up nine months later showed only slight vulvar atrophy, without signs of local recurrence or distant metastases.Although lymphoepithelioma-like carcinomas of the skin and the female genital tract are presumed to have a better prognosis than their counterparts in the upper aerodigestive tract, possibly due to earlier detection and therapy, this case documents their potential for early metastasis.

Adamantinoma with plasmacytoid features: expanding the spectrum of a diagnostically challenging entity.

PubMed

Walters, Matthew P; Baynes, Keith; Carrera, Guillermo F; King, David M; Wang, Dian; Charlson, John; Zambrano, Eduardo

2011-10-01

Adamantinoma is a rare neoplasm that characteristically involves the tibia. In many instances, typical location within the tibia, very slow course, and a typical radiographic appearance can strongly suggest the correct diagnosis. We present a case that has both unusual radiographic findings and uncharacteristic histology. In this case, radiologic imaging showed a poorly defined lytic lesion within the distal, lateral tibia extending to the joint with central necrosis, overlying periosteal reaction and possible tumor spread into soft tissue. The histology of this lesion showed pronounced vascularity and surrounding large neoplastic cells with plasmacytoid morphology. The combination of these features led to an initial misdiagnosis as metastatic carcinoma from unknown primary. Copyright © 2011 Elsevier Inc. All rights reserved.

Congenital uni-leaflet mitral valve with severe stenosis: A case report with literature review.

PubMed

Zhang, Weixin; Wang, Yonghuai; Ma, Chunyan; Zhang, Zhiwei; Yang, Jun

2017-03-01

Numerical abnormalities of mitral leaflets is a special entity in congenital mitral malformations. Previously reported cases of uni-leaflet mitral valve were primarily related to absence or dysplasia of certain leaflets. We present a case here with mitral leaflets that were not divided into anterior and posterior as usual, but developed as an integral structure instead, which is different from previously documented cases of uni-leaflet mitral valves. Real time three-dimensional echocardiography (RT3DE) provides a visual presentation of the abnormal mitral structure which was confirmed by surgical operation. To the best of our knowledge, this unusual form of uni-leaflet mitral valve has not been reported yet. © 2017, Wiley Periodicals, Inc.

Unusual square roots in the ghost-free theory of massive gravity

NASA Astrophysics Data System (ADS)

Golovnev, Alexey; Smirnov, Fedor

2017-06-01

A crucial building block of the ghost free massive gravity is the square root function of a matrix. This is a problematic entity from the viewpoint of existence and uniqueness properties. We accurately describe the freedom of choosing a square root of a (non-degenerate) matrix. It has discrete and (in special cases) continuous parts. When continuous freedom is present, the usual perturbation theory in terms of matrices can be critically ill defined for some choices of the square root. We consider the new formulation of massive and bimetric gravity which deals directly with eigenvalues (in disguise of elementary symmetric polynomials) instead of matrices. It allows for a meaningful discussion of perturbation theory in such cases, even though certain non-analytic features arise.

Telangiectatic osteosarcoma.

PubMed

Sangle, Nikhil A; Layfield, Lester J

2012-05-01

Osteosarcoma is one of the most common primary malignant bone tumors in children and adolescents. Telangiectatic osteosarcoma is an unusual variant of osteosarcoma, forming 3% to 10% of all osteosarcomas. Radiographically, these tumors appear as purely lytic destructive lesions located in the metaphyses of long bones. The location and x-ray appearance of telangiectatic osteosarcomas are reminiscent of an aneurysmal bone cyst and can test the acumen of a diagnostic radiologist. Distinguishing between the two entities microscopically can also be quite challenging. Telangiectatic osteosarcoma shows dilated blood-filled spaces lined or traversed by septa containing atypical stromal cells, with or without production of a lacelike osteoid matrix. This review highlights the diagnostic features of telangiectatic osteosarcoma and discusses differential diagnostic considerations, treatment options, and prognostic implications.

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

PubMed

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

2007-06-01

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

Plica Polonica in a Patient on Chemotherapy: A Case Report with Review of Literature

PubMed Central

Gupta, Savera; Kumar, Ramesh; Vijay, Anita; Jain, Suresh Kumar

2017-01-01

Plica polonica (plica neuropathica) is an uncommon entity characterized by irreversible twisting and matting of hair resulting in a hard impermeable mass of keratin. Although the exact mechanism is not fully understood, it has been attribute to longitudinal splitting or weathering of hair shaft due to vigorous friction and frequent use of harsh shampoos and harsh cleansers and/or due to keeping long hair with poor hair care or neglect, parasitic infection. We describe an unusual case of plica polonica occurring in a patient of lung adenocarcinoma on chemotherapy and review the literature. Anagen effluvium due to chemotherapy (paclitaxel and carboplatin) and use of an uncustomary shampoo by the patient are the causative factors for matting of the hair. PMID:28932066

Giant serous cystadenoma arising from an accessory ovary in a morbidly obese 11-year-old girl: a case report.

PubMed

Sharatz, Steven M; Treviño, Taína A; Rodriguez, Luís; West, Jared H

2008-01-18

Ectopic ovarian tissue is an unusual entity, especially if it is an isolated finding thought to be of embryological origin. An 11-year-old, morbidly obese female presented with left flank pain, nausea, and irregular menses. Various diagnostic procedures suggested a large ovarian cyst, and surgical resection was performed. Histologically, the resected mass was not of tubal origin as suspected, but a serous cystadenoma arising from ovarian tissue. The patient's two normal, eutopic ovaries were completely uninvolved and unaffected. A tumor arising from ectopic ovarian tissue of embryological origin seems the most likely explanation. We suggest refining the descriptive nomenclature so as to more precisely characterize the various presentations of ovarian ectopia.

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

PubMed

Pandey, Divya; Sharma, Ritu; Salhan, Sudha

2015-08-01

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

Reversal of Refractory Ulcerative Colitis and Severe Chronic Fatigue Syndrome Symptoms Arising from Immune Disturbance in an HLADR/DQ Genetically Susceptible Individual with Multiple Biotoxin Exposures

PubMed Central

Gunn, Shelly R.; Gibson Gunn, G.; Mueller, Francis W.

2016-01-01

Patient: Male, 25 Final Diagnosis: Ulcerative colitis and chronic fatigue syndrome Symptoms: Colitis • profound fatigue • multi-joint pain • cognitive impairment • corneal keratitis Medication: — Clinical Procedure: VIP replacement therapy Specialty: Family Medicine Objective: Unusual clinical course Background: Patients with multisymptom chronic conditions, such as refractory ulcerative colitis (RUC) and chronic fatigue syndrome (CFS), present diagnostic and management challenges for clinicians, as well as the opportunity to recognize and treat emerging disease entities. In the current case we report reversal of co-existing RUC and CFS symptoms arising from biotoxin exposures in a genetically susceptible individual. Case Report: A 25-year-old previously healthy male with new-onset refractory ulcerative colitis (RUC) and chronic fatigue syndrome (CFS) tested negative for autoimmune disease biomarkers. However, urine mycotoxin panel testing was positive for trichothecene group and air filter testing from the patient’s water-damaged rental house identified the toxic mold Stachybotrys chartarum. HLA-DR/DQ testing revealed a multisusceptible haplotype for development of chronic inflammation, and serum chronic inflammatory response syndrome (CIRS) biomarker testing was positive for highly elevated TGF-beta and a clinically undetectable level of vasoactive intestinal peptide (VIP). Following elimination of biotoxin exposures, VIP replacement therapy, dental extractions, and implementation of a mind body intervention-relaxation response (MBI-RR) program, the patient’s symptoms resolved. He is off medications, back to work, and resuming normal exercise. Conclusions: This constellation of RUC and CFS symptoms in an HLA-DR/DQ genetically susceptible individual with biotoxin exposures is consistent with the recently described CIRS disease pathophysiology. Chronic immune disturbance (turbatio immuno) can be identified with clinically available CIRS biomarkers and may represent a treatable underlying disease etiology in a subset of genetically susceptible patients with RUC, CFS, and other immune disorders. PMID:27165859

NMOSD triggered by yellow fever vaccination - An unusual clinical presentation with segmental painful erythema.

PubMed

Schöberl, F; Csanadi, E; Eren, O; Dieterich, M; Kümpfel, T

2017-01-01

Neuromyelitis Optica Spectrum Disorder (NMOSD) is an immune-mediated disease of the central nervous system with the presence of aquaporin 4-antibodies (AQP4-abs) in most cases. We describe a patient who developed NMOSD after a yellow fever vaccination. He presented to us with an unusual painful erythema Th7-9 triggered by touch in the respective skin area due to a cervical spinal cord lesion affecting the dorsolateral parts of C6/7. To our knowledge, this is the first case of NMOSD with such a clinical presentation expanding the clinical spectrum of NMOSD. It is important to be aware of that a yellow fever vaccination can trigger NMOSD. Copyright © 2016 Elsevier B.V. All rights reserved.

Hypercalcemic crisis: a clinical review.

PubMed

Ahmad, Shazia; Kuraganti, Gayatri; Steenkamp, Devin

2015-03-01

Hypercalcemia is a common metabolic perturbation. However, hypercalcemic crisis is an unusual endocrine emergency, with little clinical scientific data to support therapeutic strategy. We review the relevant scientific English literature on the topic and review current management strategies after conducting a PubMed, MEDLINE, and Google Scholar search for articles published between 1930 and June 2014 using specific keywords: "hypercalcemic crisis," "hyperparathyroid crisis," "parathyroid storm," "severe primary hyperparathyroidism," "acute hyperparathyroidism," and "severe hypercalcemia" for articles pertaining to the diagnosis, epidemiology, clinical presentation, and treatment strategies. Despite extensive clinical experience, large and well-designed clinical studies to direct appropriate clinical care are lacking. Nonetheless, morbidity and mortality rates have substantially decreased since early series reported almost universal fatality. Improved outcomes can be attributed to modern diagnostic capabilities, leading to earlier diagnosis, along with the recognition that primary hyperparathyroidism is the most common etiology for hypercalcemic crisis. Hypercalcemic crisis is an unusual endocrine emergency that portends excellent outcomes if rapid diagnosis, medical treatment, and definitive surgical treatment are expedited. Copyright © 2015 Elsevier Inc. All rights reserved.

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

PubMed

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

2011-01-01

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

Unconsummated marriages: a separate and different clinical entity.

PubMed

Gindin, Leon Roberto; Resnicoff, Diana

2002-01-01

We bring our experience in the treatment of unconsummated marriages (UM). We postulate that it is an independent clinical entity. Since 1991, 199 couples with UM have sought treatment in our center in Buenos Aires. A new approach to this problem is based on an intensive treatment session that lasts a whole day and a pledge to pay only if therapy succeeds. The outcome was a success (97%) with coitus consummation. We make a long-term follow up. The advantages are the brevity of the treatment and lack of desertions. We postulate that UM cannot be approached with an individual perspective or with the usual psychotherapy techniques.

Biological Gene Delivery Vehicles: Beyond Viral Vectors

PubMed Central

Seow, Yiqi; Wood, Matthew J

2009-01-01

Gene therapy covers a broad spectrum of applications, from gene replacement and knockdown for genetic or acquired diseases such as cancer, to vaccination, each with different requirements for gene delivery. Viral vectors and synthetic liposomes have emerged as the vehicles of choice for many applications today, but both have limitations and risks, including complexity of production, limited packaging capacity, and unfavorable immunological features, which restrict gene therapy applications and hold back the potential for preventive gene therapy. While continuing to improve these vectors, it is important to investigate other options, particularly nonviral biological agents which include bacteria, bacteriophage, virus-like particles (VLPs), erythrocyte ghosts, and exosomes. Exploiting the natural properties of these biological entities for specific gene delivery applications will expand the repertoire of gene therapy vectors available for clinical use. Here, we review the prospects for nonviral biological delivery vehicles as gene therapy agents with focus on their unique evolved biological properties and respective limitations and potential applications. The potential of these nonviral biological entities to act as clinical gene therapy delivery vehicles has already been shown in clinical trials using bacteria-mediated gene transfer and with sufficient development, these entities will complement the established delivery techniques for gene therapy applications. PMID:19277019

Biological gene delivery vehicles: beyond viral vectors.

PubMed

Seow, Yiqi; Wood, Matthew J

2009-05-01

Gene therapy covers a broad spectrum of applications, from gene replacement and knockdown for genetic or acquired diseases such as cancer, to vaccination, each with different requirements for gene delivery. Viral vectors and synthetic liposomes have emerged as the vehicles of choice for many applications today, but both have limitations and risks, including complexity of production, limited packaging capacity, and unfavorable immunological features, which restrict gene therapy applications and hold back the potential for preventive gene therapy. While continuing to improve these vectors, it is important to investigate other options, particularly nonviral biological agents which include bacteria, bacteriophage, virus-like particles (VLPs), erythrocyte ghosts, and exosomes. Exploiting the natural properties of these biological entities for specific gene delivery applications will expand the repertoire of gene therapy vectors available for clinical use. Here, we review the prospects for nonviral biological delivery vehicles as gene therapy agents with focus on their unique evolved biological properties and respective limitations and potential applications. The potential of these nonviral biological entities to act as clinical gene therapy delivery vehicles has already been shown in clinical trials using bacteria-mediated gene transfer and with sufficient development, these entities will complement the established delivery techniques for gene therapy applications.

Unstable solar lentigo: A defined separate entity.

PubMed

Byrom, Lisa; Barksdale, Sarah; Weedon, David; Muir, Jim

2016-08-01

An unstable solar lentigo is a solar lentigo with areas of melanocytic hyperplasia not extending past the margin of the lesion. They are discrete, macular, pigmented lesions arising on sun-damaged skin and a subset of typical solar lentigos. Clinically they differ from usual solar lentigines in often being solitary or larger and darker than adjacent solar lentigines. These lesions are of clinical importance as they can arise in close proximity to lentigo maligna and in a single lesion there can be demonstrated changes of solar lentigo, unstable solar lentigo and lentigo maligna. These observations led us to conjecture that unstable solar lentigos could be a precursor lesion to lentigo maligna. In this article we examine the possibility that lentigo maligna can arise within a solar lentigo through an intermediate lesion, the unstable solar lentigo. We propose that the histopathological recognition of this entity will allow for future research into its behaviour and thus management. We review difficulties in the diagnosis of single cell predominant melanocytic proliferations and the concept of unstable lentigo in view of the literature and clinical experience supporting the proposal of its recognition as a separate entity. © 2016 The Australasian College of Dermatologists.

Esophageal lichen planus: An unusual cause of dysphagia in the elderly.

PubMed

Carbonari, Augusto Pinke Cruz; Imada, Regina Rie; Nakamura, Romeu; Araki, Osvaldo; Cristina, Kelly; Balancin, Marcelo Luiz; Ibrahim, Roberto El

2018-03-01

An 82-year-old man sought our service with dysphagia and was referred for upper endoscopy with biopsies, which evidenced multiple ulcers of the esophagus and oropharinx. Histopathology confirmed the unusual diagnosis of esophageal lichen planus. The correct clinical suspicion of this disease can facilitate the diagnosis and guide specific treatment, which can drastically change the natural course of the disease.

Diagnosis and successful surgical treatment of an unusual inguinal liposarcoma in a pet ferret (Mustela putorius furo)

PubMed Central

Gardhouse, Sara; Eshar, David; Fromstein, Jordan; Smith, Dale A.

2013-01-01

A 4 1/2-year-old female spayed ferret (Mustela putorius furo) was presented for a rapidly growing mass in the inguinal region. Following a complete clinical evaluation, the unusual mass was surgically removed and the histopathological diagnosis was an inguinal liposarcoma. No post-operative complications were observed over a 14-month follow-up period. PMID:24155472

Clinical Documents: Attribute-Values Entity Representation, Context, Page Layout And Communication

PubMed Central

Lovis, Christian; Lamb, Alexander; Baud, Robert; Rassinoux, Anne-Marie; Fabry, Paul; Geissbühler, Antoine

2003-01-01

This paper presents how acquisition, storage and communication of clinical documents are implemented at the University Hospitals of Geneva. Careful attention has been given to user-interfaces, in order to support complex layouts, spell checking, templates management with automatic prefilling in order to facilitate acquisition. A dual architecture has been developed for storage using an attributes-values entity unified database and a consolidated, patient-centered, layout-respectful files-based storage, providing both representation power and sinsert (peed of accesses. This architecture allows great flexibility to store a continuum of data types from simple type values up to complex clinical reports. Finally, communication is entirely based on HTTP-XML internally and a HL-7 CDA interface V2 is currently studied for external communication. Some of the problem encountered, mostly concerning the typology of documents and the ontology of clinical attributes are evoked. PMID:14728202

Early descriptions of acromegaly and gigantism and their historical evolution as clinical entities.

PubMed

Mammis, Antonios; Eloy, Jean Anderson; Liu, James K

2010-10-01

Giants have been a subject of fascination throughout history. Whereas descriptions of giants have existed in the lay literature for millennia, the first attempt at a medical description was published by Johannes Wier in 1567. However, it was Pierre Marie, in 1886, who established the term "acromegaly" for the first time and established a distinct clinical diagnosis with clear clinical descriptions in 2 patients with the characteristic presentation. Multiple autopsy findings revealed a consistent correlation between acromegaly and pituitary enlargement. In 1909, Harvey Cushing postulated a “hormone of growth" as the underlying pathophysiological trigger involved in pituitary hypersecretion in patients with acromegaly. This theory was supported by his observations of clinical remission in patients with acromegaly in whom he had performed hypophysectomy. In this paper, the authors present some of the early accounts of acromegaly and gigantism, and describe its historical evolution as a medical and surgical entity.

[Significance of group A streptococcal infections in human pathology].

PubMed

Cvjetković, Dejan; Jovanović, Jovana; Hrnjaković-Cvjetković, Ivana; Aleksić-Dordević, Mirjana; Stefan-Mikić, Sandra

2008-01-01

Group A streptococci is the causative agent in 80 percents of human streptococcal infections. The only member of this group is Streptococcus pyogenes. CLINICALFEATURES OF GAS INFECTIONS: The various clinical entities and related complications caused by pyogenic streptococci are reviewed in the article. Pharyngitis, scarlet fever, skin and soft tissue infections (pyoderma, cellulitis, perianal dermatitis, necrotising fasciitis) and streptococcal toxic shock syndrome are described. The way of setting the diagnosis including epidemiological data, clinical features and the course of illness, laboratory findings and supportive diagnostic methods are represented in the article. The most important clinical entities which should be discussed in differential diagnosis of diseases caused by pyogenic streptococci are listed. The major principles of etiologic treatment through widely accepted strategies related to first choice antibiotics and alternatives are reviewed.

The Abernethy malformation-myriad imaging manifestations of a single entity.

PubMed

Ghuman, Samarjit S; Gupta, Saumya; Buxi, T B S; Rawat, Kishan S; Yadav, Anurag; Mehta, Naimish; Sud, Seema

2016-01-01

Abernethy malformation, also known as congenital extrahepatic portosystemic shunts (CEPS) is a rare clinical entity and manifests with different clinical symptoms. CEPS are abnormalities of vascular development where there is shunting of portal blood into the systemic venous system. Multidetector computed tomography (MDCT) is a fast and effective modality for evaluation of CEPS. CT displays all the information desired by the surgeon as well as the clinician including the anatomy of the splenic and superior mesenteric veins, size and site of the shunt, presence or absence of the portal vein radicles, and helps to plan the therapy and even the follow-up of these patients. Contrast-enhanced magnetic resonance imaging (MRI) has also emerged as a promising tool for the evaluation of liver lesions associated with the malformation. The Radiologist should be aware of the various imaging appearances of this entity including its complications. In this article, we describe the imaging appearances of CEPS, their complications, and their imaging appearances on CT and MRI. We have also described various associated anomalies.

The Abernethy malformation—myriad imaging manifestations of a single entity

PubMed Central

Ghuman, Samarjit S; Gupta, Saumya; Buxi, T B S; Rawat, Kishan S; Yadav, Anurag; Mehta, Naimish; Sud, Seema

2016-01-01

Abernethy malformation, also known as congenital extrahepatic portosystemic shunts (CEPS) is a rare clinical entity and manifests with different clinical symptoms. CEPS are abnormalities of vascular development where there is shunting of portal blood into the systemic venous system. Multidetector computed tomography (MDCT) is a fast and effective modality for evaluation of CEPS. CT displays all the information desired by the surgeon as well as the clinician including the anatomy of the splenic and superior mesenteric veins, size and site of the shunt, presence or absence of the portal vein radicles, and helps to plan the therapy and even the follow-up of these patients. Contrast-enhanced magnetic resonance imaging (MRI) has also emerged as a promising tool for the evaluation of liver lesions associated with the malformation. The Radiologist should be aware of the various imaging appearances of this entity including its complications. In this article, we describe the imaging appearances of CEPS, their complications, and their imaging appearances on CT and MRI. We have also described various associated anomalies. PMID:27857464

CKD in diabetes: diabetic kidney disease versus nondiabetic kidney disease.

PubMed

Anders, Hans-Joachim; Huber, Tobias B; Isermann, Berend; Schiffer, Mario

2018-06-01

The increasing global prevalence of type 2 diabetes mellitus (T2DM) and chronic kidney disease (CKD) has prompted research efforts to tackle the growing epidemic of diabetic kidney disease (DKD; also known as diabetic nephropathy). The limited success of much of this research might in part be due to the fact that not all patients diagnosed with DKD have renal dysfunction as a consequence of their diabetes mellitus. Patients who present with CKD and diabetes mellitus (type 1 or type 2) can have true DKD (wherein CKD is a direct consequence of their diabetes status), nondiabetic kidney disease (NDKD) coincident with diabetes mellitus, or a combination of both DKD and NDKD. Preclinical studies using models that more accurately mimic these three entities might improve the ability of animal models to predict clinical trial outcomes. Moreover, improved insights into the pathomechanisms that are shared by these entities - including sodium-glucose cotransporter 2 (SGLT2) and renin-angiotensin system-driven glomerular hyperfiltration and tubular hyper-reabsorption - as well as those that are unique to individual entities might lead to the identification of new treatment targets. Acknowledging that the clinical entity of CKD plus diabetes mellitus encompasses NDKD as well as DKD could help solve some of the urgent unmet medical needs of patients affected by these conditions.

The trigeminal trophic syndrome: an unusual cause of nasal ulceration.

PubMed

Monrad, Seetha U; Terrell, Jeffrey E; Aronoff, David M

2004-06-01

Trigeminal trophic syndrome (TTS) is an unusual complication after peripheral or central damage to the trigeminal nerve, characterized by anesthesia, paresthesias, and ala nasi ulceration. We describe a patient with classic TTS after trigeminal rhizotomy who underwent several extensive evaluations for nasal ulceration and received prolonged immunosuppressive therapy for a presumed autoimmune disorder before the correct diagnosis was made. An understanding of the predisposing factors and clinical presentation of TTS is important to ensure a timely diagnosis of this difficult-to-treat illness. Differentiation of TTS from malignancy, infection, or vasculitis is possible on the basis of clinical history, tissue biopsy, and serologic evaluation.

Unusual Case of Gunshot Injury to the Face

PubMed Central

Guruprasad, Yadavalli; Giraddi, Girish

2011-01-01

An unusual case of facial gunshot injury with the missile lodged in the cervical spine region, but without any neurological impairment, is reported. The extent of tissue damage and missile track termination in a male patient who sustained gunshot trauma to the face was assessed by plain radiography and by computed tomography scans. The patient was treated conservatively and observed for clinical manifestations of neurological deficit for one year. We present a case of gunshot injury to the face with the missile lodged in the cervical spine region and atypical absence of clinical manifestation that may occur even when a bullet remains in the vicinity of the cervical spine. PMID:21915384

Clinical Manifestations of Senecavirus A Infection in Neonatal Pigs, Brazil, 2015

PubMed Central

Leme, Raquel A.; Oliveira, Thalita E.S.; Alcântara, Brígida K.; Headley, Selwyn A.; Alfieri, Alice F.; Yang, Ming

2016-01-01

We identified new clinical manifestations associated with Senecavirus A infection in neonatal piglets in Brazil in 2015. Immunohistochemical and molecular findings confirmed the association of Senecavirus A with these unusual clinical signs and more deaths. Other possible disease agents investigated were not associated with these illnesses. PMID:27315157

An unusual case of hematemesis and epistaxis caused by a pheochromocytoma.

PubMed

Ugur, Kader; Girgin, Mustafa; Bahcecioglu, İbrahim Halil; Artas, Hakan; Selcuk Simsek, Fikri; Aydin, Suleyman

2018-01-01

Pheochromocytoma is a rare catecholamine-secreting neoplasm that is the cause of hypertension in <0.2% of patients with hypertension. We encountered an unusual case of pheochromocytoma involving hematemesis and epistaxis episodes with accompanying hypertensive attacks. Venous ectasia was detected in the esophagus. Abdominal magnetic resonance imaging revealed an adenoma in the left adrenal region. The present case illustrates that pheochromocytoma can mimic different clinical conditions.

Unusual benign polypoid and papular neoplasms and tumor-like lesions of the vulva.

PubMed

AbdullGaffar, Badr; Keloth, Tasnim R; Raman, Lakshmiah G; Mahmood, Suaad; Almulla, Amal; AlMarzouqi, Mamoun; Al-Hasani, Salam

2014-04-01

We aimed to investigate the prevalence and spectrum of unusual benign neoplasms and tumor-like lesions presenting as vulvar polyps and papules, to study their clinical, pathologic, hormonal, and developmental features and whether they have important associations with other pathologic lesions or clinical diseases. We conducted a retrospective review study of 115 vulvar specimens over 7 years. Common lesions, for example, fibroepithelial polyps, skin tags, papillomas, abscesses, viral warts and common cysts, were excluded. We found 21 cases (18%) with uncommon benign vulvar lesions. They included 7 epithelial cysts, 3 vascular lesions, 3 glandular neoplasms, 3 endometrioses, 1 caruncle, 1 pilonidal sinus, 1 prolapsed urethra, 1 seborrheic keratosis, and 1 granular cell tumor. The age range was between 1 and 64 years with a mean age of 33 years. Most (86%) were 2.5 cm or less. Many were asymptomatic incidental pathologic findings that can be missed clinically. Nine cases have important clinical associations or coexisting incidental pathologic lesions. Some lesions demonstrated hormone receptors. Some were clinically confused with fibroepithelial polyps, abscesses, warts, melanocytic lesions, and tumors. In conclusion, although the vulva is a small compartment, its developmental and histologic complexity can result in a variety of unusual and rare benign polypoid and papular lesions, some unique to the vulva, which might present diagnostic challenges to the clinicians and pathologists. In addition, many bear controversy regarding their histogenesis and origin of development in the vulva. Copyright © 2014 Elsevier Inc. All rights reserved.

Spontaneous bilateral fracture of patella.

PubMed

Moretti, Biagio; Speciale, Domenico; Garofalo, Raffaele; Moretti, Lorenzo; Patella, Silvio; Patella, Vittorio

2008-03-01

Bilateral patellae fractures represent a rare entity, accounting for approximately 2.9% of all lesions interesting in this anatomical district. In most cases found in the published work, they are described as stress fractures or as complications of chronic diseases such as osteoporosis, renal failure and secondary hyperparathyroidism. Although many pathogenetic mechanisms have been supposed, none have been proved for certain. Insufficiency fractures of the patellae are rare events and no data has been published on their incidence. We present a case of bilateral fracture of the patellae due to an indirect trauma occurring in an 85-year-old patient affected by Parkinson's disease, osteoporosis and diffuse degenerative osteoarthritis. X-ray of the knees (anteroposterior and lateral) and magnetic resonance imaging evaluation confirmed the fractures. The patient was treated conservatively. She had a good result, returning to her previous autonomous ambulation. This case is unusual because there was no direct trauma to the knees because of bilaterality, but confirmed previous observations about insufficiency fractures of patellae in the presence of comorbidity. Insufficiency fractures of patellae can be an insidious condition in elderly people. Prepatellar pain, a common symptom in the relapse phase of degenerative arthritis of the knee, should not be underestimated, particularly in patients with diseases influencing metabolism of bone and with an elevated risk of fall. A periodical clinical and instrumental follow up should be done in these patient. Moreover, we underline the necessity of a multidisciplinary approach.

Acute diabetes insipidus mediated by vasopressinase after placental abruption.

PubMed

Wallia, Amisha; Bizhanova, Aigerim; Huang, Wenyu; Goldsmith, Susan L; Gossett, Dana R; Kopp, Peter

2013-03-01

Postpartum, diabetes insipidus (DI) can be part of Sheehan's syndrome or lymphocytic hypophysitis in combination with anterior pituitary hormone deficiencies. In contrast, acute onset of isolated DI in the postpartum period is unusual. This patient presented at 33 weeks gestation with placental abruption, prompting a cesarean delivery of twins. Immediately after delivery, she developed severe DI. The DI could be controlled with the vasopressinase-resistant 1-deamino-8-D-arginine vasopressin (DDAVP), but not with arginine vasopressin (AVP), and it resolved within a few weeks. The aim of this study was to demonstrate that the postpartum DI in this patient was caused by the release of placental vasopressinase into the maternal bloodstream. Cells were transiently transfected with the AVP receptor 2 (AVPR2) and treated with either AVP or DDAVP in the presence of the patient's serum collected postpartum or 10 weeks after delivery. The response to the different treatments was evaluated by measuring the activity of a cAMP-responsive firefly luciferase reporter construct. The in vitro studies demonstrate that the patient's postpartum serum disrupts activation of the AVPR2 by AVP, but not by the vasopressinase-resistant DDAVP. Placental abruption can rarely be associated with acute postpartum DI caused by release of placental vasopressinase into the bloodstream. This clinical entity must be considered in patients with placental abruption and when evaluating patients presenting with DI after delivery.

State of the Art in African Trypanosome Drug Discovery

PubMed Central

Jacobs, Robert T.; Nare, Bakela; Phillips, Margaret A.

2011-01-01

African sleeping sickness is endemic in sub-Saharan Africa where the WHO estimates that 60 million people are at risk for the disease. Human African trypanosomiasis (HAT) is 100% fatal if untreated and the current drug therapies have significant limitations due to toxicity and difficult treatment regimes. No new chemical agents have been approved since eflornithine in 1990. The pentamidine analog DB289, which was in late stage clinical trials for the treatment of early stage HAT recently failed due to toxicity issues. A new protocol for the treatment of late-stage T. brucei gambiense that uses combination nifurtomox/eflornithine (NECT) was recently shown to have better safety and efficacy than eflornithine alone, while being easier to administer. This breakthrough represents the only new therapy for HAT since the approval of eflornithine. A number of research programs are on going to exploit the unusual biochemical pathways in the parasite to identify new targets for target based drug discovery programs. HTS efforts are also underway to discover new chemical entities through whole organism screening approaches. A number of inhibitors with anti-trypanosomal activity have been identified by both approaches, but none of the programs are yet at the stage of identifying a preclinical candidate. This dire situation underscores the need for continued effort to identify new chemical agents for the treatment of HAT. PMID:21401507

Clinical commentary on "Paroxysmal kinesigenic dyskinesia-like phenotype in multiple sclerosis" and "Secondary paroxysmal dyskinesia in multiple sclerosis: Clinical-radiological features and treatment. Case report of seven patients".

PubMed

Pareés, Isabel

2017-11-01

This clinical commentary discusses the phenomenology and treatment of paroxysmal dyskinesia in patients with multiple sclerosis. It calls for a consensus on the definition as well as for larger studies to better understand this unusual clinical association.

Hereditary and non-hereditary microangiopathies in the young. An up-date.

PubMed

Ringelstein, E Bernd; Kleffner, Ilka; Dittrich, Ralf; Kuhlenbäumer, Gregor; Ritter, Martin A

2010-12-15

In recent years, a considerable number of new sporadic or hereditary small artery diseases of the brain have been detected which preferably occur in younger age, below 45 years. Cerebral microangiopathies constitute an appreciable portion of all strokes. In middle aged patients, hereditary cerebral small vessel diseases have to be separated from sporadic degenerative cerebral microangiopathy which is mainly due to a high vascular risk load. Features of the following disorders and details how to differentiate them, are reviewed here, namely CADASIL, MELAS, AD-RVLC, HEMID, CARASIL, PADMAL, FABRY, COL4A1-related cerebral small vessel diseases and a Portuguese type of autosomal dominant cerebral small vessel disease (SVDB). The symptomatic overlap of the cerebral microangiopathies include also other distinctive non-hereditary diseases like posterior (reversible) encephalopathy and Susac's syndrome which are also described. Some of the microangiopathies described here are not only seen in the young but also in the elderly. The precise diagnosis has direct therapeutic implications in several of these entities. Cerebral microangiopathies cause recurring strokes and diffuse white matter lesions leading to a broad spectrum of gait disturbances and in most of these disorders cognitive impairment or even vascular dementia in the long term. Often, they also involve the eye, the inner ear or the kidney. Several typical imaging findings from illustrative cases are presented. The order in which these diseases are presented here is not dictated by an inner logic principle, because a genetically or pathophysiologically based classification system of all these entities does not exist yet. Some entities are well established and not unusual, whereas others have only been described in a few cases in total. Copyright © 2010 Elsevier B.V. All rights reserved.

[Granulomatous sporotrichosis: report of two unusual cases].

PubMed

Ramírez-Soto, Max; Lizárraga-Trujillo, José

2013-10-01

Sporotrichosis is a subcutaneous mycosis caused by Sporothrix complex, endemic in Abancay, Peru. Is acquired by traumatic inoculation with plant material. Common clinical presentations are lymphatic cutaneous and fixed cutaneous disease. We report 2 cases of fixed cutaneous sporotrichosis with granulomatous appearance. The first case was a patient of 65 years old with no risk factors and the second case was a 67 year old diabetic patient. Subjects underwent mycological culture with Sabouraud agar, with isolation of Sporothrix schenckii and clinical dignosis of fixed cutaneous sporotrichosis with granulomatous appearance. One patient received oral treatment with saturated solution of potassium iodide (SSKI) with a initial dose of 3 drops tid up to a maximum dose of 40 drops tid. Mycological and clinical cure was achieved after 2 months of treatment. We should consider the unusual clinical presentations of fixed cutaneous sporotrichosis with granulomatous appearance that present morphological and clinical features in diabetic and nondiabetic patients older than 60 years from endemic areas and communicate adequate response to treatment with SSKI in one case.

Exercise Related Leg Pain (ERLP): a Review of The Literature

PubMed Central

2007-01-01

Exercise related leg pain (ERLP) is a regional pain syndrome described as pain between the knee and ankle which occurs with exercise. Indiscriminant use of terminology such as “shin splints” has resulted in ongoing confusion regarding the pathoanatomic entities associated with this pain syndrome. Each of the pathoanatomic entities – medial tibial stress syndrome, chronic exertional compartment syndrome, tibial and fibular stress fractures, tendinopathy, nerve entrapment, and vascular pathology – which manifest as ERLP are each described in terms of relevant anatomy, epidemiology, clinical presentation, associated pathomechanics, and intervention strategies. Evidence regarding risk factors for ERLP general and specific pathoanatomic entities are presented in the context of models of sports injury prevention. PMID:21522213

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

PubMed Central

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

2018-01-01

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

Large calcified subdural empyema.

PubMed

Sarkar, S; Mazumder, U; Chowdhury, D; Dey, S K; Hossain, M; Nag, U K; Riaz, B K

2012-04-01

Subdural empyema is a known disease entity; however, calcified subdural empyema is uncommon. The authors present a case of an 11-year-old boy in whom there was diagnosed a chronic calcified subdural empyema 10 years after an attack of meningitis. The patient had suffered from generalized tonic clonic seizures occurring 2-6 times in a month. A large fronto-temporo-parietal craniotomy was carried out and the subdural empyema filled with numerous uncharacteristic tissue fragments with thick pus together with the partially calcified and ossified capsule was removed. The empyema mass was found to be sterile for bacteria. After the operation, no epileptic seizure occurred and the boy is on sodium valporate. We must emphasize the unusual occurrence of the chronic subdural empyema presenting with calcification-ossification and large size as observed in our case.

Lymphoepithelioma-like carcinoma of the vulva, an underrecognized entity? Case report with a single inguinal micrometastasis detected by sentinel node technique

PubMed Central

2011-01-01

This report describes an unusual EBV-negative lymphoepithelioma-like carcinoma of the vulva in a 73-year-old patient. The lesion was localised at the right minor labium and was resected by partial vulvectomy. A synchronous sentinel lymph node biopsy revealed a single micrometastasis in the right inguinal region, which prompted local radiotherapy. Follow-up nine months later showed only slight vulvar atrophy, without signs of local recurrence or distant metastases. Although lymphoepithelioma-like carcinomas of the skin and the female genital tract are presumed to have a better prognosis than their counterparts in the upper aerodigestive tract, possibly due to earlier detection and therapy, this case documents their potential for early metastasis. PMID:21219641

Parietal pilomyxoid astrocytoma with recurrence in 10 months: A case report and review of literature

PubMed Central

Patibandla, Mohana Rao; Thotakura, Amit K.; Uppin, Megha; Challa, Sundaram; Addagada, Gokul Chowdary; Nukavarapu, Manisha

2016-01-01

Pilomyxoid astrocytoma (PMA) is a new entity described in WHO 2007 classification of brain tumors. Pilocytic astrocytoma (PA) and PMA share many histopathological features with a few differences in histopathology and behavior of the tumor. This tumor is commonly located in the hypothalamic chiasmatic region. PMA behaves more aggressively than PA, with shorter progression-free survival as well as a higher rate of recurrence and CNS dissemination. We describe a case of PMA in a 10-year-old male involving left parietal lobe presenting with raised ICP features along with the follow-up. Patient was symptom free after 7 months of postoperative and 5½ months of post-radiation. The unusual site and atypical Magnetic resonance imaging features are distinctive in this case report. PMID:27366287

Progressive pigmentary purpura.

PubMed

Brauer, Jeremy A; Mundi, Jyoti; Chu, Julie; Patel, Rishi; Meehan, Shane; Greenspan, Alan H; Stein, Jennifer

2011-10-15

A 58-year-old man presented for evaluation and treatment of non-tender, non-pruritic, annular patches on the right temple and frontal aspect of the scalp that reddened with exercise. A biopsy specimen showed a purpuric dermatitis with features of lymphocytic vasculitis; a diagnosis of exercise-induced progressive pigmentary purpura was made. Whereas progressive pigmentary purpura is purported to be caused by exercise, other similar appearing entities are associated with exercise, namely exercise-induced vasculitis (EIV). EIV may be considered as an acute microcirculatory deficiency and thermoregulation decompensation that occurs after episodes of exhaustive major muscular activity or after unusual or excessive exercise. The combination of age greater than 50 years, heat, and prolonged exercise are the most potent contributing factors. This is the first report of exercise-induced progressive pigmentary purpura.

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.

Vestibular Migraine: Clinical Challenges and Opportunities for Multidisciplinarity

PubMed Central

Luís, Leonel; Gonçalves, Freire; Pavão Martins, Isabel

2016-01-01

Migraine and vertigo are two very prevalent conditions in general population. The coexistence of both in the same subject is a significant clinical challenge, since it is not always possible to understand whether they are causally related or associated by chance, requiring different diagnostic and therapeutic approaches. In this review we analyze and summarize the actual knowledge about vestibular migraine (VM), focusing on the new concepts proposed by the International Classification of Headache Disorders 3-beta and by the Bárány Society and also addressing the former concepts, which are still present in clinical practice. We conclude that clinical studies using a multidisciplinary approach are crucial in this field, since different specialists observe the same pathology with different eyes. Clinical presentation of VM is variable in what concerns vestibular symptoms temporal relation with migraine headache, as well as in their accompanying manifestations. Biomarkers, either genomics or functional, and molecular imaging techniques will be helpful to clarify many aspects of the complexity of this entity, helping to define to what extent can VM be considered a separate and independent clinical entity. PMID:28082766

Tumoral, quasitumoral and pseudotumoral lesions of the superficial and somatic soft tissue: new entities and new variants of old entities recorded during the last 25 years. Part XII: appendix.

PubMed

Bisceglia, M; Spagnolo, D; Galliani, C; Fisher, C; Suster, S; Kazakov, D V; Cooper, K; Michal, M

2006-08-01

In an eleven part series published in Pathologica, we have presented various tumoral, quasitumoral and pseudotumoral lesions of the superficial and somatic soft tissue (ST), which emerged as new entities or as variants of established entities during the last quarter of a century. Detailed clinicomorphological and differential diagnostic features of approximately sixty entities were chosen on the basis of their clinical significance and morphologic distinctiveness. The series included fibrous and myofibroblastic tumors (e.g. solitary fibrous tumor, high grade classic and pigmented dermatofibrosarcoma protuberans, inflammatory myofibroblastic tumor and myofibrosarcomas), fibromyxoid and fibrohistiocytic neoplasms (e.g., Evans' tumor, phosphaturic mesenchymal tumor, inflammatory myxohyaline tumor), special adipocytic/vascular/and smooth muscle lesions (e.g., chondroid lipoma, Dabska's tumor, ST hemangioblastoma, lipoleiomyosarcoma), epithelioid mesenchymal malignancies of diverse lineages (e.g., epithelioid liposarcoma, proximal-type epithelioid sarcoma, neuroendocrine extraskeletal chondromyxoid sarcoma), ST Ewing's tumor and peripheral nerve sheath tumors (perineuriomas and pigmented and rosetting tumors of the schwannoma/neurofibroma group), extranodal dendritic or histiocytic proliferative processes (follicular dendritic cell sarcoma, Rosai-Dorfman disease, Castleman's disease, and plexiform xanthomatous tumor), and tumors with myoepithelial differentiation. The section devoted to selected pseudotumoral entities considered representatives of the hamartoma group (neural fibrolipomatous hamartoma, ectopic hamartomatous thymoma, rudimentary meningocele), metabolic diseases (amyloid tumor, nephrogenic fibrosing dermopathy, tophaceous pseudogout, pseudoinfiltrative parathyromatosis), stromal tissue reactions to trauma (fibroosseous pseudotumors of digits) and infections (bacillary angiomatosis), and normal organs (glomus coccygeum). To conclude the descriptive phase, supplementary material has now been collected and appended in an attempt to provide a quick digest of essential knowledge both for comparison and differential diagnosis. The data have been tailored to synthesize diverse sources, integrating clinical elements and references to articles that previously appeared in Part I ("Introduction"), Part II ("The List and Review of New Entities") and Parts III to XI ("Excerpta"). At the very least we hope this final part ("Appendix") will provide the reader with a useful tabular organization of ST lesions and a reference resource.

Unusual Synchronous Presentation of Maxillary Sinus Fibrosarcoma and Gemistocytic Astrocytoma with a Complication Called Leukocytoclastic Vasculitis: A Case Report

PubMed Central

Cadir, Bilge; Karahan, Nermin; Nasir, Serdar; Aydin, M. Asim; Turkaslan, S. Suha

2009-01-01

Fibrosarcoma of the paranasal sinuses is extremely rare pathology and there is limited report in the literature. We report synchronous presentation of maxillary sinus fibrosarcoma and gemistocytic astrocytoma which is, to our knowledge, unique in the literature. Both tumors metastases to other organ rarely and the metastatic spread of gemistocytic astrocytoma to fibrosarcoma or vice versa have also not been reported in the literature yet. This report discusses the clinical course of the disease, outcome of the treatment approach and survival as well as an unusual occurrence of leukocytoclastic vasculitis during the course of radiotherapy in such unusual presentation. PMID:19756200

Motivation and Organizational Principles for Anatomical Knowledge Representation

PubMed Central

Rosse, Cornelius; Mejino, José L.; Modayur, Bharath R.; Jakobovits, Rex; Hinshaw, Kevin P.; Brinkley, James F.

1998-01-01

Abstract Objective: Conceptualization of the physical objects and spaces that constitute the human body at the macroscopic level of organization, specified as a machine-parseable ontology that, in its human-readable form, is comprehensible to both expert and novice users of anatomical information. Design: Conceived as an anatomical enhancement of the UMLS Semantic Network and Metathesaurus, the anatomical ontology was formulated by specifying defining attributes and differentia for classes and subclasses of physical anatomical entities based on their partitive and spatial relationships. The validity of the classification was assessed by instantiating the ontology for the thorax. Several transitive relationships were used for symbolically modeling aspects of the physical organization of the thorax. Results: By declaring Organ as the macroscopic organizational unit of the body, and defining the entities that constitute organs and higher level entities constituted by organs, all anatomical entities could be assigned to one of three top level classes (Anatomical structure, Anatomical spatial entity and Body substance). The ontology accommodates both the systemic and regional (topographical) views of anatomy, as well as diverse clinical naming conventions of anatomical entities. Conclusions: The ontology formulated for the thorax is extendible to microscopic and cellular levels, as well as to other body parts, in that its classes subsume essentially all anatomical entities that constitute the body. Explicit definitions of these entities and their relationships provide the first requirement for standards in anatomical concept representation. Conceived from an anatomical viewpoint, the ontology can be generalized and mapped to other biomedical domains and problem solving tasks that require anatomical knowledge. PMID:9452983

Hypophosphatemic osteomalacia: an unusual clinical presentation of multiple myeloma.

PubMed

Reyskens, M; Sleurs, K; Verresen, L; Janssen, M; van den Bergh, J; van den Berg, J; Geusens, P

2015-07-01

An unusual case of a 75-year-old man is presented who had multiple stress fractures due to adult onset hypophosphatemic osteomalacia, which was the result of Fanconi syndrome, with light chain cast proximal tubulopathy due to multiple myeloma. A 75-year-old man presented with diffuse pain and muscle weakness. He had multiple stress fractures, low serum phosphate, decreased renal tubular reabsorption of phosphate, and normal PTH and FGF23, indicating adult onset hypophosphatemic osteomalacia. Phosphate supplements with calcitriol resulted in clinical recovery and healing of stress fractures. Because of proteinuria, a renal biopsy was performed that revealed Fanconi syndrome with light chain cast proximal tubulopathy and light kappa chains were found in serum and urine. A bone biopsy confirmed the diagnosis of multiple myeloma, and treatment with chemotherapy resulted in cytological and clinical recovery.

Transforming to a computerized system for nursing care: organizational success within Magnet idealism.

PubMed

Lindgren, Carolyn L; Elie, Leslie G; Vidal, Elizabeth C; Vasserman, Alex

2010-01-01

In reaching the goal for standardized, quality care, a not-for-profit healthcare system consisting of seven institutional entities is transforming nursing practice guidelines, patient care workflow, and patient documents into electronic, online, real-time modalities for use across departments and all healthcare delivery entities of the system. Organizational structure and a strategic plan were developed for the 2-year Clinical Transformation Project. The Siemens Patient Care Document System was adopted and adapted to the hospitals' documentation and information needs. Two fast-track sessions of more than 100 nurses and representatives from other health disciplines were held to standardize assessments, histories, care protocols, and interdisciplinary plans of care for the top 10 diagnostic regulatory groups. Education needs of the users were addressed. After the first year, a productive, functional system is evidenced. For example, the bar-coded Medication Administration Check System is in full use on the clinical units of one of the hospitals, and the other institutional entities are at substantial stages of implementation of Patient Care Documentation System. The project requires significant allocation of personnel and financial resources for a highly functional informatics system that will transform clinical care. The project exemplifies four of the Magnet ideals and serves as a model for others who may be deciding about launching a similar endeavor.

Unusual Metastases in Renal Cell Carcinoma: A Single Institution Experience and Review of Literature

PubMed Central

Villarreal-Garza, Cynthia; Perez-Alvarez, Sandra I.; Gonzalez-Espinoza, Ivan R.; Leon-Rodriguez, Eucario

2010-01-01

Background To report location and management of atypical metastases from renal cell carcinoma (RCC) in the Instituto Nacional de Ciencias Medicas e Investigacion Salvador Zubiran (INCMNSZ) in Mexico City. Methods Between 1987 to 2009, 545 patients with RCC were retrospectively identified at the INCMNSZ. Patients with unusual metastases confirmed by histopathology were analyzed. Epidemiological, clinical, diagnosis, treatment and outcome data were reviewed. Results Sixty patients developed 98 unusual metastases secondary to RCC. The group was comprised of 35 men (58.3%), with a median age of 60 years at diagnosis. Metachronous unusual metastases with primary renal cancer were observed in 37 individuals (61.7%). Median time from primary RCC diagnosis to the first unusual metastasis was 16.5 months. Median survival from diagnosis of the first unusual metastasis to death was 5.0 months (CI 95%: 2.8-7.2 months). Patients with an initial solitary metastatic lesion in an unusual site (28.3%) had a better survival compared to patients who primarily presented with multiple metastases, 17.0 (CI 95%: 6.1-27.9) Vs 3.0 months (CI 95%: 0.9-5.1), p = 0.001. Unusual metastasis resection (21 patients) improved survival, 25.0 (CI 95%: 5.1-44.9) Vs 3.0 months (CI 95%: 0.8-5.2), p < 0.0001. No survival difference was observed between localization of unsual metastases (p = 0.72). Conclusions In patients with advanced RCC we suggest an individual diagnostic and surgical approach to achieve complete resection with disease-free margins, even in the presence of unusual metastatic sites, multifocality, or history of metastasectomy. These strategy might provide not only palliation for symptoms, but an opportunity for meaningful disease free and overall survival. PMID:29147198

PROGRESS IN ACUTE MYELOID LEUKEMIA

PubMed Central

Kadia, Tapan M.; Ravandi, Farhad; O’Brien, Susan; Cortes, Jorge; Kantarjian, Hagop M.

2014-01-01

Significant progress has been made in the treatment of acute myeloid leukemia (AML). Steady gains in clinical research and a renaissance of genomics in leukemia have led to improved outcomes. The recognition of tremendous heterogeneity in AML has allowed individualized treatments of specific disease entities within the context of patient age, cytogenetics, and mutational analysis. The following is a comprehensive review of the current state of AML therapy and a roadmap of our approach to these distinct disease entities. PMID:25441110

Primitive myxoid mesenchymal tumor of infancy in a preterm infant.

PubMed

Lam, Joseph; Lara-Corrales, Irene; Cammisuli, Salvatore; Somers, Gino R; Pope, Elena

2010-01-01

Primitive myxoid mesenchymal tumor of infancy is a recently recognized entity that has been added to the differential diagnosis of myxoid tumors of the soft tissue. Few cases have been reported of this entity in the literature, but none presenting in a preterm infant. We present the case and clinical course of a preterm boy with a primitive myxoid mesenchymal tumor of infancy that occurred following excision of a congenital juvenile xanthogranuloma. © 2010 Wiley Periodicals, Inc.

A database of natural products and chemical entities from marine habitat

PubMed Central

Babu, Padavala Ajay; Puppala, Suma Sree; Aswini, Satyavarapu Lakshmi; Vani, Metta Ramya; Kumar, Chinta Narasimha; Prasanna, Tallapragada

2008-01-01

Marine compound database consists of marine natural products and chemical entities, collected from various literature sources, which are known to possess bioactivity against human diseases. The database is constructed using html code. The 12 categories of 182 compounds are provided with the source, compound name, 2-dimensional structure, bioactivity and clinical trial information. The database is freely available online and can be accessed at http://www.progenebio.in/mcdb/index.htm PMID:19238254

Exploring performance issues for a clinical database organized using an entity-attribute-value representation.

PubMed

Chen, R S; Nadkarni, P; Marenco, L; Levin, F; Erdos, J; Miller, P L

2000-01-01

The entity-attribute-value representation with classes and relationships (EAV/CR) provides a flexible and simple database schema to store heterogeneous biomedical data. In certain circumstances, however, the EAV/CR model is known to retrieve data less efficiently than conventionally based database schemas. To perform a pilot study that systematically quantifies performance differences for database queries directed at real-world microbiology data modeled with EAV/CR and conventional representations, and to explore the relative merits of different EAV/CR query implementation strategies. Clinical microbiology data obtained over a ten-year period were stored using both database models. Query execution times were compared for four clinically oriented attribute-centered and entity-centered queries operating under varying conditions of database size and system memory. The performance characteristics of three different EAV/CR query strategies were also examined. Performance was similar for entity-centered queries in the two database models. Performance in the EAV/CR model was approximately three to five times less efficient than its conventional counterpart for attribute-centered queries. The differences in query efficiency became slightly greater as database size increased, although they were reduced with the addition of system memory. The authors found that EAV/CR queries formulated using multiple, simple SQL statements executed in batch were more efficient than single, large SQL statements. This paper describes a pilot project to explore issues in and compare query performance for EAV/CR and conventional database representations. Although attribute-centered queries were less efficient in the EAV/CR model, these inefficiencies may be addressable, at least in part, by the use of more powerful hardware or more memory, or both.

On the creation of a clinical gold standard corpus in Spanish: Mining adverse drug reactions.

PubMed

Oronoz, Maite; Gojenola, Koldo; Pérez, Alicia; de Ilarraza, Arantza Díaz; Casillas, Arantza

2015-08-01

The advances achieved in Natural Language Processing make it possible to automatically mine information from electronically created documents. Many Natural Language Processing methods that extract information from texts make use of annotated corpora, but these are scarce in the clinical domain due to legal and ethical issues. In this paper we present the creation of the IxaMed-GS gold standard composed of real electronic health records written in Spanish and manually annotated by experts in pharmacology and pharmacovigilance. The experts mainly annotated entities related to diseases and drugs, but also relationships between entities indicating adverse drug reaction events. To help the experts in the annotation task, we adapted a general corpus linguistic analyzer to the medical domain. The quality of the annotation process in the IxaMed-GS corpus has been assessed by measuring the inter-annotator agreement, which was 90.53% for entities and 82.86% for events. In addition, the corpus has been used for the automatic extraction of adverse drug reaction events using machine learning. Copyright © 2015 Elsevier Inc. All rights reserved.

Munchausen syndrome by proxy in Mexican children: medical, social, psychological and legal aspects.

PubMed

Trejo-Hernández, Jorge; Loredo-Abdalá, Arturo; Orozco-Garibay, José Manuel

2011-01-01

The Munchausen Syndrome by Proxy (MSP), is considered as an unusual less frequent variety of child abuse (CA). In this type of abuse the perpetrators purposely provide factitious information, tamper with specimens or actually induce an illness in a child. Nowadays, it is a clinical entity described in pediatrics as more frequently than before. Despite the fact of its presence worldwide, there are still problems in order to get an appropriate diagnostic. It is also difficult to handle both the clinical and legal aspects in various countries. Make our academic fellows aware of various pediatric, psychological, social and legal aspects of a series of cases attended at the Clínica de Atención Integral al Niño Maltratado from Instituto Nacional de Pediatría (CAINM-INP), Mexico [Integral Clinic of Attention for Abused Children, at National Institute of Pediatrics, Mexico]. From a series of 25 cases, 18 minors of age were considered with this syndrome since we found that they shared medical, psychological, social and legal characteristics. 18 minors of age belonged to 14 families. 4 of those families had two affected children each one. These affected children were girls 13/18, predominant in children under six years in 10/18. Syndrome expression was distributed as follows: fever from a non determined origin, seizures, chronic diarrhea, hematuria, and probable sexual abuse. 14 children were hospitalized. In all cases, the aggressor was the mother. The psychological evaluation of six perpetrators revealed psychotic, histrionic, and compulsive-obsessive traits. The socio-economic condition was low in 50% of the cases. A legal demand was posed for seven patients in which all the children remained under the custody of the mother. In Mexico, reports of CA have increased within the last years according to experience. Some complex forms as MSP require the participation of an interdisciplinary team for both diagnosis and integral attention.

Compulsive buying: an overlooked entity.

PubMed

Basu, Bishnupriya; Basu, Saikat; Basu, Jharna

2011-08-01

Compulsive buying is an under-recognised entity among Indian psychiatrists. A Medline search, hand searching of journals and direct communications with lead investigators in compulsive buying have generated numerous studies. Overseas data indicate a community prevalence between 1% and 8% . The phenomenon can be an independent entity or appears as a comorbidity with another axis I or axis II disorder. A degree of suspicion on part of clinician regarding its possible presence is the key to its detection. A few rating instruments are available to quantify the morbidity and screening for compulsive buying. Management involves pharmacotherapy with SSRIs, psychotherapy, self-help groups and self-help books. Epidemiological and clinical studies on compulsive buying should be undertaken by Indian psychiatrists to provide better services for people suffering from compulsive buying.

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.

Unusual Clinical Presentation of Hemobilia with Recurrent Vasovagal Episodes.

PubMed

Tiwari, Abhinav; Hammad, Tariq; Sharma, Himani; Qamar, Khola; Khan, Mohammad Saud; Khan, Zubair; Nawras, Ali; Sodeman, Thomas

2017-01-01

Hemobilia is caused by the abnormal connection between a blood vessel and the bile duct, which is usually iatrogenic and caused by hepatobiliary procedures. The classic triad of hemobilia includes biliary colic, obstructive jaundice, and gastrointestinal bleeding. We present the case of an 80-year-old man who had laparoscopic cholecystectomy complicated by hemobilia. He had an unusual presentation of hemobilia in the form of transient vasovagal episodes in addition to abdominal pain and hematochezia.

POLG1 mutations and stroke like episodes: a distinct clinical entity rather than an atypical MELAS syndrome.

PubMed

Cheldi, Antonella; Ronchi, Dario; Bordoni, Andreina; Bordo, Bianca; Lanfranconi, Silvia; Bellotti, Maria Grazia; Corti, Stefania; Lucchini, Valeria; Sciacco, Monica; Moggio, Maurizio; Baron, Pierluigi; Comi, Giacomo Pietro; Colombo, Antonio; Bersano, Anna

2013-01-15

POLG1 mutations have been associated with MELAS-like phenotypes. However given several clinical differences it is unknown whether POLG1 mutations are possible causes of MELAS or give raise to a distinct clinical and genetic entity, named POLG1-associated encephalopathy. We describe a 74 years old man carrying POLG1 mutations presenting with strokes, myopathy and ragged red fibers with some atypical aspects for MELAS such as late onset, lack of cerebral calcification and presence of frontal and occipital MRI lesions better consistent with the POLG associated-encephalopathy spectrum. The lack of available data hampers a definite diagnosis in our patient as well as makes it difficult to compare MELAS, which is a clearly defined clinical syndrome, with POLG1-associated encephalopathy, which is so far a purely molecularly defined syndrome with a quite heterogeneous clinical picture. However, the present report contributes to expand the phenotypic spectrum of POLG1 mutations underlining the importance of searching POLG1 mutations in patients with mitochondrial signs and MELAS like phenotypes but negative for common mtDNA mutations.

[Cyclothymic obsessive-compulsive disorder. Clinical characteristics of a neglected and under-recognized entity].

PubMed

Hantouche, E G; Demonfaucon, C; Angst, J; Perugi, G; Allilaire, J F; Akiskal, H S

2002-04-13

Clinical research is largely focused on depressive comorbidity in obsessional compulsive disorder (OCD). However some recent publications have suggested that bipolar comorbidity occurs in authentic OCD and its presence has a differential impact on the clinical picture and course of OCD. Recent data from the collaborative survey conducted with AFTOC (French Association of patients suffering from OCD) have revealed a high rate of bipolar comorbidity in OCD: 30% for hypomania and 50% for cyclothymia. The present paper presents further comparative analyses between OCD with (n = 302) versus without cyclothymia (n = 272). The sub-group "Cyclothymic OCD" is characterized by a different clinical picture (higher frequency of aggressive, impulsive, religious and sexual obsessions, and compulsions of control, hoarding, repetition), episodic course, higher rate of major depressive episodes (with more intensity and recurrence) associated with higher rates of suicide attempts and psychiatric admissions, and less favorable response to anti-OCD treatments. These data suggested that cyclothymic OCD could represent a specific distinct variant form of OCD. More vigilance is needed toward this entity which is largely under-recognized in clinical practice.

Anti-PIT-1 antibody syndrome; a novel clinical entity leading to hypopituitarism.

PubMed

Bando, Hironori; Iguchi, Genzo; Yamamoto, Masaaki; Hidaka-Takeno, Ryoko; Takahashi, Yutaka

2015-03-01

Various hypothalamic-pituitary diseases cause hypopituitarism. Inflammation related to autoimmunity also causes hypopituitarism. Hypophysitis is a representative disease caused by autoimmunity. Generally, anterior pituitary hormones are non-specifically impaired in this condition, but specific hormone defects have been reported in some cases. Anti-PIT-1 (pituitary-specific transcription factor 1) antibody syndrome is a novel clinical entity that presents an acquired combined pituitary hormone deficiency characterized by a specific defect in growth hormone, prolactin, and thyroid-stimulating hormone. Circulating anti-PIT-1 antibody along with various autoantibodies are detected with multiple endocrine organopathy, meeting the definition of autoimmune polyglandular syndrome. Mechanistically, cytotoxic T lymphocytes that specifically react with PIT-1 protein play an important role in the development of this syndrome.

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

A pediatric intramedullary spinal cord tumor with unusual solid-cystic and papillary features: a case report.

PubMed

Iwasaki, Takeshi; Kato, Masako; Horie, Yasushi; Kato, Shinsuke; Akatsuka, Keiichi; Watanabe, Takashi; Kuwamoto, Satoshi; Murakami, Ichiro; Hayashi, Kazuhiko

2011-12-01

Spinal cord tumors are rare in children. We report a novel case of pediatric intramedullary spinal cord tumor with unusual solid-cystic and papillary features. Clinically, the patient presented at the age of 3 years with motor deficit and urinary incontinence, and MRI demonstrated multilocular cystic lesions in the thoracic spine. Histologically the tumor consisted of solid, sheet-like components and branching papillary structures, and immunohistochemistry demonstrated positive reactivity for epithelial membrane antigen, cytokeratins (7, AE1/3, CAM5.2), E-cadherin and transthyretin, and negativity for GFAP, S-100 protein, synaptophysin and neurofilament. These histological and immunohistochemical findings appeared to be unique, and were not compatible with the features of classical ependymoma or choroid plexus papilloma. The clinical behavior, characterized by relatively rapid tumor regrowth after surgical resection and a relatively high MIB-1 labeling index, suggest that this tumor might have had moderate malignant potential. This pediatric case appears to be particularly informative with regard to the tumor biology or tumorigenesis of intramedullary spinal cord tumor with unusual solid-cystic and papillary features. © 2011 Japanese Society of Neuropathology.

In vitro activity of daptomycin against clinical isolates of Gram-positive bacteria.

PubMed

Piper, Kerryl E; Steckelberg, James M; Patel, Robin

2005-08-01

We determined the activity of daptomycin, a recently FDA-approved antimicrobial agent, against clinical isolates of Gram-positive bacteria, including viridans group streptococci (16 Streptococcus mitis species group, 12 S. mutans species group, 9 S. anginosus species group, 8 S. sanguinis species group, 5 S. salivarius species group) from patients with infective endocarditis, 32 methicillin-resistant Staphylococcus aureus, 32 high-level penicillin-resistant Streptococcus pneumoniae, 38 vancomycin-resistant enterococci (including 1 linezolid-resistant isolate), and the following unusual Gram-positive bacteria: 3 Listeria monocytogenes, 4 Erysipelothrix rhusiopathiae, 9 Corynebacterium species, 10 Abiotrophia/Granulicatella species, 2 Rothia (Stomatococcus) mucilaginosus, and 4 Gemella morbillorum. Daptomycin minimum inhibitory concentration (MIC)(90) values for the viridans group streptococci, methicillin-resistant S. aureus, penicillin-resistant S. pneumoniae, and Enterococcus species were 0.5, 0.5, < or =0.125, and 4 microg/ml, respectively. The daptomycin MIC range for the unusual Gram-positive bacteria was < or =0.125-2 microg/ml. We conclude that daptomycin has in vitro activity against viridans group streptococci associated with endocarditis as well as against several types of unusual Gram-positive bacteria that can cause endocarditis.

Machine learning to parse breast pathology reports in Chinese.

PubMed

Tang, Rong; Ouyang, Lizhi; Li, Clara; He, Yue; Griffin, Molly; Taghian, Alphonse; Smith, Barbara; Yala, Adam; Barzilay, Regina; Hughes, Kevin

2018-06-01

Large structured databases of pathology findings are valuable in deriving new clinical insights. However, they are labor intensive to create and generally require manual annotation. There has been some work in the bioinformatics community to support automating this work via machine learning in English. Our contribution is to provide an automated approach to construct such structured databases in Chinese, and to set the stage for extraction from other languages. We collected 2104 de-identified Chinese benign and malignant breast pathology reports from Hunan Cancer Hospital. Physicians with native Chinese proficiency reviewed the reports and annotated a variety of binary and numerical pathologic entities. After excluding 78 cases with a bilateral lesion in the same report, 1216 cases were used as a training set for the algorithm, which was then refined by 405 development cases. The Natural language processing algorithm was tested by using the remaining 405 cases to evaluate the machine learning outcome. The model was used to extract 13 binary entities and 8 numerical entities. When compared to physicians with native Chinese proficiency, the model showed a per-entity accuracy from 91 to 100% for all common diagnoses on the test set. The overall accuracy of binary entities was 98% and of numerical entities was 95%. In a per-report evaluation for binary entities with more than 100 training cases, 85% of all the testing reports were completely correct and 11% had an error in 1 out of 22 entities. We have demonstrated that Chinese breast pathology reports can be automatically parsed into structured data using standard machine learning approaches. The results of our study demonstrate that techniques effective in parsing English reports can be scaled to other languages.

Towards an Obesity-Cancer Knowledge Base: Biomedical Entity Identification and Relation Detection

PubMed Central

Lossio-Ventura, Juan Antonio; Hogan, William; Modave, François; Hicks, Amanda; Hanna, Josh; Guo, Yi; He, Zhe; Bian, Jiang

2017-01-01

Obesity is associated with increased risks of various types of cancer, as well as a wide range of other chronic diseases. On the other hand, access to health information activates patient participation, and improve their health outcomes. However, existing online information on obesity and its relationship to cancer is heterogeneous ranging from pre-clinical models and case studies to mere hypothesis-based scientific arguments. A formal knowledge representation (i.e., a semantic knowledge base) would help better organizing and delivering quality health information related to obesity and cancer that consumers need. Nevertheless, current ontologies describing obesity, cancer and related entities are not designed to guide automatic knowledge base construction from heterogeneous information sources. Thus, in this paper, we present methods for named-entity recognition (NER) to extract biomedical entities from scholarly articles and for detecting if two biomedical entities are related, with the long term goal of building a obesity-cancer knowledge base. We leverage both linguistic and statistical approaches in the NER task, which supersedes the state-of-the-art results. Further, based on statistical features extracted from the sentences, our method for relation detection obtains an accuracy of 99.3% and a f-measure of 0.993. PMID:28503356

Globulomaxillary cysts--do they really exist?

PubMed

Dammer, U; Driemel, O; Mohren, W; Giedl, C; Reichert, T E

2014-01-01

The so-called "globulomaxillary cyst", described as a fissural cyst, caused by entrapped epithelium between the nasal and maxillary process, is no longer considered for its own entity. Nevertheless, cystic lesions, which correspond to the previous image of globulomaxillary cysts, do still occur in daily practice. This raises the question to which entities pathological processes in this particular region actually belong to. In a retrospective study, 17 cases (12 men and 5 women, 12-59 years old) of primarily diagnosed globulomaxillary cysts are analysed according to clinical, radiological and histological aspects, catamnestic processed and assigned to a new entity. The results are compared with the international literature and draws conclusions on the diagnostic and therapeutic procedure. Seven lateral periodontal cysts, four radicular cysts, two keratocystic odontogenic tumours, one adenomatoid odontogenic tumour, one periapical granuloma, one residual cyst and one undefined jaw cyst were determined. According to the results of our study and the data from the international literature, the entity globulomaxillary cyst is no longer justified.

SQUAMOUS CELL CARCINOMA IN TWO SNOW LEOPARDS (UNCIA UNCIA) WITH UNUSUAL AURICULAR PRESENTATION.

PubMed

Quintard, Benoît; Greunz, Eva Maria; Lefaux, Brice; Lemberger, Karin; Leclerc, Antoine

2017-06-01

Squamous cell carcinoma (SCC) is well documented in snow leopards ( Uncia uncia ) and most common locations are oral, facial, or pedal. These two cases illustrate an unusual auricular presentation, which is more often reported in white domestic cats. The animals were aged and presented clinical signs of otitis such as head shaking and ear scratching. Clinical examinations showed auricular canal masses with chronic purulent otitis. In both cases, clinical deterioration led to euthanasia and histology of the ear canal was consistent with SCC and showed numerous vascular emboli. These cases illustrate an unreported aggressive localization for SCC in snow leopards, which should be included in the differential diagnosis of otitis in this species. Auricular SCC may be underdiagnosed as the ear canal is infrequently sampled for histopathology. This auricular localization should be considered when metastases are found upon necropsy without internal primary tumor.

An Unusual Case Report of Bertolotti's Syndrome: Extraforaminal Stenosis and L5 Unilateral Root Compression (Castellvi Type III an LSTV).

PubMed

Kapetanakis, Stylianos; Chaniotakis, Constantinos; Paraskevopoulos, Constantinos; Pavlidis, Pavlos

2017-01-01

Castellvi Type III lumbosacral transitional vertebrae (LSTV) is an unusual case of Bertolotti's syndrome (BS) due to extraforaminal stenosis, especially manifesting in elderly patients. We report a case of BS in a 62 years old Greek female. The signs of the clinical examination are low back pain, sciatica, hypoesthesia, and pain to the contribution of L5 nerve. Imaging techniques revealed an LSTV Type III a (complete sacralization between LSTV and sacrum). Despite the fact that LSTV is a congenital lesion, the clinical manifestation of BS may present in the elderly population. The accumulative effect of the gradual degeneration of intervertebral foramen (stenosis) may lead to the compression of extraforaminal portion of the nerve root.

Update from the 4th Edition of the World Health Organization Classification of Head and Neck Tumours: Tumors of the Salivary Gland.

PubMed

Seethala, Raja R; Stenman, Göran

2017-03-01

The salivary gland section in the 4th edition of the World Health Organization classification of head and neck tumors features the description and inclusion of several entities, the most significant of which is represented by (mammary analogue) secretory carcinoma. This entity was extracted mainly from acinic cell carcinoma based on recapitulation of breast secretory carcinoma and a shared ETV6-NTRK3 gene fusion. Also new is the subsection of "Other epithelial lesions," for which key entities include sclerosing polycystic adenosis and intercalated duct hyperplasia. Many entities have been compressed into their broader categories given clinical and morphologic similarities, or transitioned to a different grouping as was the case with low-grade cribriform cystadenocarcinoma reclassified as intraductal carcinoma (with the applied qualifier of low-grade). Specific grade has been removed from the names of the salivary gland entities such as polymorphous adenocarcinoma, providing pathologists flexibility in assigning grade and allowing for recognition of a broader spectrum within an entity. Cribriform adenocarcinoma of (minor) salivary gland origin continues to be divisive in terms of whether it should be recognized as a distinct category. This chapter also features new key concepts such as high-grade transformation. The new paradigm of translocations and gene fusions being common in salivary gland tumors is featured heavily in this chapter.

Complicated coexisting pyogenic and tuberculous otitis media affecting the temporozygomatic, infratemporal, and parotid areas: report of a rare entity.

PubMed

Brar, Tripti; Mrig, Sumit; Passey, J C; Agarwal, A K; Jain, Shayma

2013-01-01

We report an unusual case in which a 28-year-old woman presented with a long-standing history of ear discharge, hearing loss, facial weakness with ipsilateral facial swelling and cellulitis, a postauricular fistula, and an abscess of the temporozygomatic, infratemporal, and parotid areas. The pus stained positive for bacteria and acid-fast bacilli, and culture was positive for Proteus vulgaris and mycobacteria. Based on these findings, a diagnosis of tuberculous otitis media with complications was made. Computed tomography showed extensive destruction of the tympanic and mastoid part of the temporal bone, as well as lytic lesions in the skull. The patient was placed on antituberculosis drug therapy. Although her facial nerve palsy and hearing loss persisted, she otherwise responded well and did not require surgery.

An unusual case of concurrent insulinoma and nesidioblastosis.

PubMed

Bright, Elizabeth; Garcea, Giuseppe; Ong, Seok L; Madira, Webster; Berry, David P; Dennison, Ashley R

2008-09-02

Endogenous hyperinsulinaemic hypoglycaemia in adults is most commonly caused by an insulinoma. Adult nesidioblastosis is rarely reported. To the best of our knowledge the presence of both insulinoma and nesidioblastosis has not been reported before. We report a case of a 35-year-old female presenting with neuroglycaemic symptoms. A supervised 72-hour fast confirmed hypoglycaemia in the presence of hyperinsulinaemia. Thorough pre-operative biochemical and radiological investigations, including selective splenic, superior mesenteric and portal venous sampling inferred a tentative diagnosis of adult nesidioblastosis. However, a grossly elevated insulin level within the splenic vein on a second set of venous sampling produced a high index of suspicion for the presence of an insulinoma. At surgical exploration both an insulinoma and nesidioblastosis were identified and confirmed by histological examination. We report an even rarer entity of concurrent insulinoma and nesidioblastosis.

Pheochromocytoma, papillary thyroid carcinoma.

PubMed

Nasser, Tariq; Qari, Faiza

2009-08-01

A 53-year-old woman presented with labile and difficult to control hypertension on 3 different anti-hypertensive medications. Abdominal computed tomography and ultrasonography of the thyroid gland showed a 1.8 cm thyroid nodule. Fine needle aspiration biopsy of the thyroid nodule revealed papillary thyroid carcinoma. Serum thyroid stimulating hormone and free thyroxine, calcitonin, carcinoembryonic antigen, intact parathyroid hormone, and calcium levels were within normal limits. A 24-hour urine metanephrine showed significant elevation in urine metanephrine of approximately 3 times the upper limit of normal, and the result of 131I-metaiodobenzyleguanjdjne (131I-MIBG) scintigraphy confirmed that the adrenal mass was pheochromocytoma. Right adrenalectomy and total thyroidectomy were performed. The final pathology was pheochromocytoma and papillary thyroid carcinoma. An analysis of c-ret porto-oncogene mutation yielded a negative result. This unusual association of 2 tumors represents a new entity.

Immunohistochemical mismatch in a case of rhabdomyoblastic metastatic melanoma.

PubMed

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

2018-01-01

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

A de novo SOX10 mutation causing severe type 4 Waardenburg syndrome without Hirschsprung disease.

PubMed

Sznajer, Yves; Coldéa, Cristina; Meire, Françoise; Delpierre, Isabelle; Sekhara, Tayeb; Touraine, Renaud L

2008-04-15

Type 4 Waardenburg syndrome represents a well define entity caused by neural crest derivatives anomalies (melanocytes, intrinsic ganglion cells, central, autonomous and peripheral nervous systems) leading, with variable expressivity, to pigmentary anomalies, deafness, mental retardation, peripheral neuropathy, and Hirschsprung disease. Autosomal dominant mode of inheritance is prevalent when Sox10 gene mutation is identified. We report the natural history of a child who presented with synophrys, vivid blue eye, deafness, bilateral complete semicircular canals agenesis with mental retardation, subtle signs for peripheral neuropathy and lack of Hirschsprung disease. SOX10 gene sequencing identified "de novo" splice site mutation (c.698-2A > C). The present phenotype and the genotype findings underline the wide spectrum of SOX10 gene implication in unusual type 4 Waardenburg syndrome patient. Copyright 2008 Wiley-Liss, Inc.

42 CFR 55a.102 - Who is eligible to apply for a Black Lung clinics grant?

Code of Federal Regulations, 2011 CFR

2011-10-01

... 42 Public Health 1 2011-10-01 2011-10-01 false Who is eligible to apply for a Black Lung clinics... SERVICES GRANTS PROGRAM GRANTS FOR BLACK LUNG CLINICS General Provisions § 55a.102 Who is eligible to apply for a Black Lung clinics grant? Any State or public or private entity may apply for a grant under this...

42 CFR 55a.102 - Who is eligible to apply for a Black Lung clinics grant?

Code of Federal Regulations, 2010 CFR

2010-10-01

... 42 Public Health 1 2010-10-01 2010-10-01 false Who is eligible to apply for a Black Lung clinics... SERVICES GRANTS PROGRAM GRANTS FOR BLACK LUNG CLINICS General Provisions § 55a.102 Who is eligible to apply for a Black Lung clinics grant? Any State or public or private entity may apply for a grant under this...

[Pain disorders in traumatized individuals - neurophysiology and clinical presentation].

PubMed

Egloff, N; Hirschi, A; von Känel, R

2012-01-18

This overview portrays the salient physiological mechanisms being involved in the clinical manifestation of chronic pain in traumatized patients. A «hypermnesia-hyperarousal-model» is purported to support the neurophysiologic plausibility of the trauma-pain-relationship. We discuss seven characteristic clinical pain entities which alone or in combination can be found in patients with a previous psychological trauma.

Paracoccidioidomycosis in an HIV-positive patient: a case report with gingival aspects.

PubMed

Giovani, E M; Mantesso, A; Loducca, S V; Magalhães, M H

2000-09-01

Paracoccidioidomycosis is an important deep mycosis, endemic in some areas of the South American countryside, with great incidence in males bearing rural activities, being unusual in urban developed centres. Cell-mediated immunity is the main host defence against the P. brasiliensis, and HIV-positive patients have been increasingly affected by the disease, although only a few reports are available in the literature. We present a case of paracoccidiodomicosis in an HIV-positive female, with unusual clinical history and histopathological aspects.

Mining heart disease risk factors in clinical text with named entity recognition and distributional semantic models.

PubMed

Urbain, Jay

2015-12-01

We present the design, and analyze the performance of a multi-stage natural language processing system employing named entity recognition, Bayesian statistics, and rule logic to identify and characterize heart disease risk factor events in diabetic patients over time. The system was originally developed for the 2014 i2b2 Challenges in Natural Language in Clinical Data. The system's strengths included a high level of accuracy for identifying named entities associated with heart disease risk factor events. The system's primary weakness was due to inaccuracies when characterizing the attributes of some events. For example, determining the relative time of an event with respect to the record date, whether an event is attributable to the patient's history or the patient's family history, and differentiating between current and prior smoking status. We believe these inaccuracies were due in large part to the lack of an effective approach for integrating context into our event detection model. To address these inaccuracies, we explore the addition of a distributional semantic model for characterizing contextual evidence of heart disease risk factor events. Using this semantic model, we raise our initial 2014 i2b2 Challenges in Natural Language of Clinical data F1 score of 0.838 to 0.890 and increased precision by 10.3% without use of any lexicons that might bias our results. Copyright © 2015 Elsevier Inc. All rights reserved.

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

PubMed

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

2011-01-01

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

Determining similarity of scientific entities in annotation datasets

PubMed Central

Palma, Guillermo; Vidal, Maria-Esther; Haag, Eric; Raschid, Louiqa; Thor, Andreas

2015-01-01

Linked Open Data initiatives have made available a diversity of scientific collections where scientists have annotated entities in the datasets with controlled vocabulary terms from ontologies. Annotations encode scientific knowledge, which is captured in annotation datasets. Determining relatedness between annotated entities becomes a building block for pattern mining, e.g. identifying drug–drug relationships may depend on the similarity of the targets that interact with each drug. A diversity of similarity measures has been proposed in the literature to compute relatedness between a pair of entities. Each measure exploits some knowledge including the name, function, relationships with other entities, taxonomic neighborhood and semantic knowledge. We propose a novel general-purpose annotation similarity measure called ‘AnnSim’ that measures the relatedness between two entities based on the similarity of their annotations. We model AnnSim as a 1–1 maximum weight bipartite match and exploit properties of existing solvers to provide an efficient solution. We empirically study the performance of AnnSim on real-world datasets of drugs and disease associations from clinical trials and relationships between drugs and (genomic) targets. Using baselines that include a variety of measures, we identify where AnnSim can provide a deeper understanding of the semantics underlying the relatedness of a pair of entities or where it could lead to predicting new links or identifying potential novel patterns. Although AnnSim does not exploit knowledge or properties of a particular domain, its performance compares well with a variety of state-of-the-art domain-specific measures. Database URL: http://www.yeastgenome.org/ PMID:25725057

Determining similarity of scientific entities in annotation datasets.

PubMed

Palma, Guillermo; Vidal, Maria-Esther; Haag, Eric; Raschid, Louiqa; Thor, Andreas

2015-01-01

Linked Open Data initiatives have made available a diversity of scientific collections where scientists have annotated entities in the datasets with controlled vocabulary terms from ontologies. Annotations encode scientific knowledge, which is captured in annotation datasets. Determining relatedness between annotated entities becomes a building block for pattern mining, e.g. identifying drug-drug relationships may depend on the similarity of the targets that interact with each drug. A diversity of similarity measures has been proposed in the literature to compute relatedness between a pair of entities. Each measure exploits some knowledge including the name, function, relationships with other entities, taxonomic neighborhood and semantic knowledge. We propose a novel general-purpose annotation similarity measure called 'AnnSim' that measures the relatedness between two entities based on the similarity of their annotations. We model AnnSim as a 1-1 maximum weight bipartite match and exploit properties of existing solvers to provide an efficient solution. We empirically study the performance of AnnSim on real-world datasets of drugs and disease associations from clinical trials and relationships between drugs and (genomic) targets. Using baselines that include a variety of measures, we identify where AnnSim can provide a deeper understanding of the semantics underlying the relatedness of a pair of entities or where it could lead to predicting new links or identifying potential novel patterns. Although AnnSim does not exploit knowledge or properties of a particular domain, its performance compares well with a variety of state-of-the-art domain-specific measures. Database URL: http://www.yeastgenome.org/ © The Author(s) 2015. Published by Oxford University Press.

Solitary Metastasis to the Facial/Vestibulocochlear Nerve Complex: Case Report and Review of the Literature.

PubMed

Ariai, M Shafie; Eggers, Scott D; Giannini, Caterina; Driscoll, Colin L W; Link, Michael J

2015-10-01

Distant metastasis of mucinous adenocarcinoma from the gastrointestinal tract, ovaries, pancreas, lungs, breast, or urogenital system is a well-described entity. Mucinous adenocarcinomas from different primary sites are histologically identical with gland cells producing a copious amount of mucin. This report describes a very rare solitary metastasis of a mucinous adenocarcinoma of unknown origin to the facial/vestibulocochlear nerve complex in the cerebellopontine angle. A 71-year-old woman presented with several month history of progressive neurological decline and a negative extensive workup performed elsewhere. She presented to our institution with complete left facial weakness, left-sided deafness, gait unsteadiness, headache and anorexia. A repeat magnetic resonance imaging scan of the head revealed a cystic, enhancing abnormality involving the left cerebellopontine angle and internal auditory canal. A left retrosigmoid craniotomy was performed and the lesion was completely resected. The final pathology was a mucinous adenocarcinoma of indeterminate origin. Postoperatively, the patient continued with her preoperative deficits and subsequently died of her systemic disease 6 weeks after discharge. The facial/vestibulocochlear nerve complex is an unusual location for metastatic disease in the central nervous system. Clinicians should consider metastatic tumor as the possible etiology of an unusual appearing mass in this location causing profound neurological deficits. The prognosis after metastatic mucinous adenocarcinoma to the cranial nerves in the cerebellopontine angle may be poor. Copyright © 2015 Elsevier Inc. All rights reserved.

Non compaction cardiomyopathy: Review of a controversial entity.

PubMed

Lorca, Rebeca; Rozado, José; Martín, María

2018-05-11

Non-compaction cardiomyopathy is a heterogeneous and complex entity concerning which there are still many doubts to be resolved. While the American Heart Association includes it among genetic cardiomyopathies, the European Society of Cardiology treats it as an unclassified cardiomyopathy. It may present in a sporadic or familial form, isolated or associated with other heart diseases, affecting only the left ventricle or both and can sometimes appear as a mixed phenotype in patients with other cardiomyopathies. Different forms of clinical presentation are also associated with its different morphological manifestations, and even non-compaction of the left ventricle may be triggered by other physiological or pathological processes. The purpose of this review is an update of this entity and its controversies. Copyright © 2017 Elsevier España, S.L.U. All rights reserved.

New daily persistent headache: An evolving entity.

PubMed

Uniyal, Ravi; Paliwal, Vimal Kumar; Anand, Sucharita; Ambesh, Paurush

2018-01-01

New daily persistent headache (NDPH) is characterized by an abrupt onset of headache that becomes a daily entity, is unremitting and continuous from the onset, and lasts for more than 3 months. Dr Walter Vanast first described NDPH in the year 1986. Originally, it was proposed as a chronic daily headache but it was placed under "other primary headaches" in the International Classification of Headache Disorder Second Edition (ICHD 2nd edition). However, with evolving literature and better understanding of its clinical characteristics, it was classified as a "chronic daily headache" in the ICHD 3 rd edition beta. There are still many knowledge-gaps regarding the underlying cause, pathophysiology, natural history and treatment of NDPH. This review tries to revisit the entity and discusses the current status of understanding regarding NDPH.

Patients Reporting Ritual Abuse in Childhood: A Clinical Syndrome. Report of 37 Cases.

ERIC Educational Resources Information Center

Young, Walter C.; And Others

1991-01-01

Thirty-seven adult dissociative disorder patients who reported ritual abuse in childhood by satanic cults are described. A clinical syndrome is presented that includes dissociative states with satanic overtones, posttraumatic stress disorder, survivor guilt, unusual fears, and substance abuse. Questions concerning reliability, credibility, and…

Symptomatic Acute Toxoplasmosis in Returning Travelers

PubMed Central

Henao-Martínez, Andrés F; Franco-Paredes, Carlos; Palestine, Alan G; Montoya, Jose G

2018-01-01

Abstract We report a family who acquired acute toxoplasmosis after a trip to Central America. One member developed severe clinical manifestations including bilateral chorioretinitis, hepatitis, and myocarditis requiring therapy. Symptomatic acute toxoplasmosis is unusual and possesses a diagnostic challenge. We discuss the clinical and epidemiological implications, laboratory diagnosis, and treatment plan. PMID:29644250

[Amyloidosis maculosa: diagnosis in primary care].

PubMed

Toribio da Pena, S R; Olmos, O; Borbujo, J; Bastos Amigo, J A; Jiménez-Sánchez, F; Alonso, A

1990-01-01

Amyloidosis maculosa is a clinical entity with low incidence factor in our medium, which basically affects middle-aged women. The lesion is characterised by the presence of poorly defined, hyperpigmented, brownish or greyish maculae that converge and focus basically on the upper back and shoulders, usually accompanied by pruritus. Three patients were erroneously catalogued for years as having pityriasis versicolor. Two of these patients presented a typical clinical amyloidosis maculosa, and the third presented a less common manifestation of the disease: a single, well-defined lesion in the subscapular region. We believe that the approach to the diagnosis of pityriasis versicolor with hyperpigmented lesions that do not respond to specific treatment should be revised. Although amyloidosis maculosa has a low incidence in our medium, it is an entity which should not be discarded in these cases.

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.

Cystic echinococcosis: A neglected disease at usual and unusual locations.

PubMed

Sarkar, Soma; Roy, Himansu; Saha, Puranjay; Sengupta, Mallika; Sarder, Krisnendu; Sengupta, Manideepa

2017-01-01

Echinococcus granulosus causes a zoonotic infection called cystic echinococcosis (CE) or more commonly known as hydatid disease. Although the two most common locations of hydatid cyst are liver and lung, it may also appear in other parts of the body. Clinical presentation of the hydatid disease depends on the site and size of the lesion. A retrospective study was done in Medical College and Hospital, Kolkata, from January 2012 to June 2014, to find the site of involvement, distribution, clinical features, history of contact, mode of presentation, laboratory diagnosis, and treatment modalities of the cases of hydatid cyst. The cases were identified by radiological and laboratory methods, the data were entered in Excel spreadsheet, and analysis was done. Among the 21 cases of hydatid cyst included in the study, solitary hepatic involvement was seen in 11 (52.38%), pulmonary involvement in 4 (19%), and 6 (28.71%) were in unusual locations such as liver cyst extending as retroperitoneal, omental cyst, choledochal cyst, splenic cyst, and in hepatorenal pouch. History of contact with dog was seen in 15 (71.43%). All the patients were treated with surgery and albendazole and were discharged in healthy condition. CE may be present in usual and unusual locations with a lot of variations in the clinical features. Hence, proper radiological and laboratory diagnosis is required for accurate diagnosis and appropriate management of these cases.

Dysthymia in clinical practice:course, outcome and impact on the community.

PubMed

Keller, M B

1994-01-01

Recent studies have indicated the pernicious nature of dysthymia; its low-grade chronicity probably contributes most to the problem of under-treatment and misdiagnosis. A high prevalence of morbidity and comorbidity is associated with dysthymia: major depression, alcoholism, anxiety and personality disorders are present in the vast majority of sufferers. It is also very unusual for people with dysthymia to not develop superimposed episodes of major depressive disorder, resulting in a longer time to recover and high rates of recurrence and chronicity. Approximately 3.1% of the population have dysthymia including children and adolescents who, like adults, exhibit a higher risk for new episodes of depressive illness if they have this disorder. Children and adolescents with depressive illnesses have higher rates of scholastic failure and school-related problems. Dysthymia can affect every aspect of a person's quality of life including relationships with significant others, earning potential and, most importantly, mental and physical well-being. Available data is not yet sufficient to differentiate dysthymia as a disease entity from the other depressive disorders such as major depression or double depression, or to conclude to what extent dysthymia should be thought of as a personality disorder. However, the DSM-IV Mood Disorders Field Trial results help identify new criteria for the DSM-IV Appendix. The relationship between dysthymic disorder and major depression needs more definition, especially in regard to course and severity, so that an accurate diagnosis can lead to expeditious and appropriate treatment.

An Unusual Transorbital Penetrating Injury and Principles of Management

PubMed Central

Dekker, Andrew Peter; El-Sawy, Abdel Hamid; Rejali, Darius Stephen

2014-01-01

The objective of this study was to present an unusual low velocity transorbital penetrating injury. The study design was a clinical record (case report). A 38-year-old gentleman tripped and fell face first onto the wing of an ornamental brass eagle. This penetrated the inferomedial aspect of the right orbit, breaching the lamina papyracea to extend into the ethmoid sinuses and reaching the dura of the anterior cranial fossa. The foreign body was removed in theater under a joint ophthalmology and ENT procedure. The patient was left with reduced visual acuity in the right eye but no other long-term sequelae. Transorbital penetrating injury presents unusual challenges to investigation and management requiring a multidisciplinary approach to prevent significant morbidity and mortality. If managed well the prognosis is good. PMID:25383154

An unusual transorbital penetrating injury and principles of management.

PubMed

Dekker, Andrew Peter; El-Sawy, Abdel Hamid; Rejali, Darius Stephen

2014-12-01

The objective of this study was to present an unusual low velocity transorbital penetrating injury. The study design was a clinical record (case report). A 38-year-old gentleman tripped and fell face first onto the wing of an ornamental brass eagle. This penetrated the inferomedial aspect of the right orbit, breaching the lamina papyracea to extend into the ethmoid sinuses and reaching the dura of the anterior cranial fossa. The foreign body was removed in theater under a joint ophthalmology and ENT procedure. The patient was left with reduced visual acuity in the right eye but no other long-term sequelae. Transorbital penetrating injury presents unusual challenges to investigation and management requiring a multidisciplinary approach to prevent significant morbidity and mortality. If managed well the prognosis is good.

Complex posttraumatic stress disorder: The need to consolidate a distinct clinical syndrome or to reevaluate features of psychiatric disorders following interpersonal trauma?

PubMed

Giourou, Evangelia; Skokou, Maria; Andrew, Stuart P; Alexopoulou, Konstantina; Gourzis, Philippos; Jelastopulu, Eleni

2018-03-22

Complex posttraumatic stress disorder (Complex PTSD) has been recently proposed as a distinct clinical entity in the WHO International Classification of Diseases, 11 th version, due to be published, two decades after its first initiation. It is described as an enhanced version of the current definition of PTSD, with clinical features of PTSD plus three additional clusters of symptoms namely emotional dysregulation, negative self-cognitions and interpersonal hardship, thus resembling the clinical features commonly encountered in borderline personality disorder (BPD). Complex PTSD is related to complex trauma which is defined by its threatening and entrapping context, generally interpersonal in nature. In this manuscript, we review the current findings related to traumatic events predisposing the above-mentioned disorders as well as the biological correlates surrounding them, along with their clinical features. Furthermore, we suggest that besides the present distinct clinical diagnoses (PTSD; Complex PTSD; BPD), there is a cluster of these comorbid disorders, that follow a continuum of trauma and biological severity on a spectrum of common or similar clinical features and should be treated as such. More studies are needed to confirm or reject this hypothesis, particularly in clinical terms and how they correlate to clinical entities' biological background, endorsing a shift from the phenomenologically only classification of psychiatric disorders towards a more biologically validated classification.

45 CFR 60.12 - Reporting adverse actions taken against clinical privileges.

Code of Federal Regulations, 2014 CFR

2014-10-01

... privileges of a physician or dentist for a period longer than 30 days, (ii) Acceptance of the surrender of clinical privileges or any restriction of such privileges by a physician or dentist: (A) While the physician or dentist is under investigation by the health care entity relating to possible incompetence or...

45 CFR 60.12 - Reporting adverse actions taken against clinical privileges.

Code of Federal Regulations, 2013 CFR

2013-10-01

... privileges of a physician or dentist for a period longer than 30 days, (ii) Acceptance of the surrender of clinical privileges or any restriction of such privileges by a physician or dentist: (A) While the physician or dentist is under investigation by the health care entity relating to possible incompetence or...

Osteomyelitis Caused by Moraxella osloensis

PubMed Central

Sugarman, Barrett; Clarridge, Jill

1982-01-01

Moraxella osloensis osteomyelitis of the femur developed in a paraplegic man. He responded to treatment with oral ampicillin. Disease in humans caused by this unusual clinical isolate is reviewed. PMID:7107844

Paracoccidioidomycosis: an unusual presentation in a young girl disclosing an unnoted HIV-infection.

PubMed

Marques, Silvio Alencar; Camargo, Rosangela M P; Abbade, Luciana P F; Fortaleza, Carlos Magno C B; Marques, Mariangela E A

2010-02-01

The association of paracoccidioidomycosis with AIDS is apparently less frequent than expected. The authors present an unusual case of paracoccidioidomycosis in a 13-year-old female student which was later found to be the first opportunistic infection in the course of the patient's HIV-infection. The clinical presentation followed an accidental incised wound on the palmar region initially described as a 'sporotrichotic-chancre'. After good response under sulfamethoxazole-trimethoprin, the patient relapsed and presented an associated oral candidiasis. HIV-infection was documented and additional investigation showed CD4(+) T-cells=22/mm(3), CD8(+)=280 cell/mm(3) and viral load=4,043 log. This case report presents an uncommon dermatological-clinical picture in the youngest patient in which such association has been reported to date.

Veterans' Reactions to Release of American Hostages

PubMed Central

Pope, Frederick E.; Painter, Joel H.; Bergant, Carole

1983-01-01

Soon after the return of the hostages from Iran, the staff of the Mental Health Clinic of the Veterans Administration Outpatient Clinic, Santa Barbara, California, began noting an unusual association between veterans' feelings and the attention given the returning hostages. Of 100 veterans referred at random for diagnosis and treatment, not one had positive feelings about the reception given the returning hostages; 34 viewed the festivities and proclamations of welcome as excessive and unfair, and 12 expressed violent feelings toward the hostages, media people or members of the government. Of these 100 veterans, 52 expressed anxiety and excessive irritability, 41 were having psychic symptoms of depression and 38 reported sexual disturbances. This unusual form of stress had activated long-dormant feelings in veterans of four different wars and several generations. PMID:6858122

An Unusual Case Report of Bertolotti’s Syndrome: Extraforaminal Stenosis and L5 Unilateral Root Compression (Castellvi Type III an LSTV)

PubMed Central

Kapetanakis, Stylianos; Chaniotakis, Constantinos; Paraskevopoulos, Constantinos; Pavlidis, Pavlos

2017-01-01

Introduction: Castellvi Type III lumbosacral transitional vertebrae (LSTV) is an unusual case of Bertolotti’s syndrome (BS) due to extraforaminal stenosis, especially manifesting in elderly patients. Case Report: We report a case of BS in a 62 years old Greek female. The signs of the clinical examination are low back pain, sciatica, hypoesthesia, and pain to the contribution of L5 nerve. Imaging techniques revealed an LSTV Type III a (complete sacralization between LSTV and sacrum). Conclusion: Despite the fact that LSTV is a congenital lesion, the clinical manifestation of BS may present in the elderly population. The accumulative effect of the gradual degeneration of intervertebral foramen (stenosis) may lead to the compression of extraforaminal portion of the nerve root. PMID:29051870

Is undifferentiated spondyloarthritis a discrete entity? A debate.

PubMed

Deodhar, Atul; Miossec, Pierre; Baraliakos, Xenofon

2018-01-01

The concept of undifferentiated spondyloarthritis has been introduced recently to describe a clinical setting where the classical features of spondyloarthritis (SpA) are not fully present. Whether this is a discrete entity was the basis of a debate during the 4th International Congress on Controversies in Rheumatology & Autoimmunity held in Bologna, Italy 9-11 March 2017. The pro and con aspects of the debate are presented. The implications of the debate are important ranging from diagnostic aspects to consequences for the society and the payers. Copyright © 2017 Elsevier B.V. All rights reserved.

Gastric Volvulus: A Rare Entity Case Report and Literature Review

PubMed Central

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

2018-01-01

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

Lenticular fibroxanthomatous nodule.

PubMed

Lee, Seok J; Ling, Jun X; Aaberg, Thomas M; Grossniklaus, Hans E

2003-02-01

To describe two patients with unique lenticular nodular proliferations. Observational case reports. The clinical histories and pathologic findings of two patients with lenticular nodular proliferations were reviewed. One patient with persistent hyperplastic primary vitreous and another patient with trauma developed lenticular nodular proliferations. The nodules were vascularized collections of foamy histiocytes, multinucleated cells, lens capsule, and lens epithelium that had undergone fibrous metaplasia. The lesions were classified as lenticular fibroxanthomatous nodules. A lenticular fibroxanthomatous nodule is a unique clinicopathologic entity that should be differentiated from Soemmerring ring, Elschnig pearl, and other simulating entities such as juvenile xanthogranuloma.

Current approach in the diagnosis and management of posterior uveitis

PubMed Central

Sudharshan, S; Ganesh, Sudha K; Biswas, Jyotrimay

2010-01-01

Posterior uveitic entities are varied entities that are infective or non-infective in etiology. They can affect the adjacent structures such as the retina, vitreous, optic nerve head and retinal blood vessels. Thorough clinical evaluation gives a clue to the diagnosis while ancillary investigations and laboratory tests assist in confirming the diagnosis. Newer evolving techniques in the investigations and management have increased the diagnostic yield. In case of diagnostic dilemma, intraocular fluid evaluation for polymerase chain testing for the genome and antibody testing against the causative agent provide greater diagnostic ability. PMID:20029144

The A to Z of healthcare data breaches.

PubMed

Kobus, Theodore J

2012-01-01

There currently exists a myriad of privacy laws that impact a healthcare entity, including more than 47 notification laws that require notification when a data breach occurs, as well as the breach notification requirements of the Health Information Technology for Economic and Clinical Health Act. Given the plethora of issues a healthcare entity faces, there are certain principles that can be built into an organization's philosophy that will comply with the law and help protect it from reputational harm. © 2012 American Society for Healthcare Risk Management of the American Hospital Association.

Modeling Clinical Information Needs in the Context of a Specific Patient

PubMed Central

Price, Susan L.

2000-01-01

Investigators have tried various approaches to link clinical information directly to information sources that may contain answers to clinical questions. Developing a model of clinical information needs that may arise in the context of viewing information about a specific patient is a preliminary step to finding an efficient, useful solution to the information retrieval problem. This poster illustrates a method of modeling clinical information needs in the context of a specific patient that that is adapted from entity-relationship models used in database design.

POLG1 mutations and stroke like episodes: a distinct clinical entity rather than an atypical MELAS syndrome

PubMed Central

2013-01-01

Background POLG1 mutations have been associated with MELAS-like phenotypes. However given several clinical differences it is unknown whether POLG1 mutations are possible causes of MELAS or give raise to a distinct clinical and genetic entity, named POLG1-associated encephalopathy. Case presentation We describe a 74 years old man carrying POLG1 mutations presenting with strokes, myopathy and ragged red fibers with some atypical aspects for MELAS such as late onset, lack of cerebral calcification and presence of frontal and occipital MRI lesions better consistent with the POLG associated-encephalopathy spectrum. Conclusion The lack of available data hampers a definite diagnosis in our patient as well as makes it difficult to compare MELAS, which is a clearly defined clinical syndrome, with POLG1-associated encephalopathy, which is so far a purely molecularly defined syndrome with a quite heterogeneous clinical picture. However, the present report contributes to expand the phenotypic spectrum of POLG1 mutations underlining the importance of searching POLG1 mutations in patients with mitochondrial signs and MELAS like phenotypes but negative for common mtDNA mutations. PMID:23324391

The molecular biology of soft-tissue sarcomas and current trends in therapy.

PubMed

Quesada, Jorge; Amato, Robert

2012-01-01

Basic research in sarcoma models has been fundamental in the discovery of scientific milestones leading to a better understanding of the molecular biology of cancer. Yet, clinical research in sarcoma has lagged behind other cancers because of the multiple clinical and pathological entities that characterize sarcomas and their rarity. Sarcomas encompass a very heterogeneous group of tumors with diverse pathological and clinical overlapping characteristics. Molecular testing has been fundamental in the identification and better definition of more specific entities among this vast array of malignancies. A group of sarcomas are distinguished by specific molecular aberrations such as somatic mutations, intergene deletions, gene amplifications, reciprocal translocations, and complex karyotypes. These and other discoveries have led to a better understanding of the growth signals and the molecular pathways involved in the development of these tumors. These findings are leading to treatment strategies currently under intense investigation. Disruption of the growth signals is being targeted with antagonistic antibodies, tyrosine kinase inhibitors, and inhibitors of several downstream molecules in diverse molecular pathways. Preliminary clinical trials, supported by solid basic research and strong preclinical evidence, promises a new era in the clinical management of these broad spectrum of malignant tumors.

Multimodal molecular analysis of astroblastoma enables reclassification of most cases into more specific molecular entities.

PubMed

Wood, Matthew D; Tihan, Tarik; Perry, Arie; Chacko, Geeta; Turner, Clinton; Pu, Cunfeng; Payne, Christopher; Yu, Alexander; Bannykh, Serguei I; Solomon, David A

2018-03-01

Astroblastoma is a rare and controversial glioma with variable clinical behavior. The diagnosis currently rests on histologic findings of a circumscribed glioma with astroblastomatous pseudorosettes and vascular hyalinization. Immunohistochemical studies have suggested different oncogenic drivers, such as BRAF p.V600E, but very few cases have been studied using genome-wide methodologies. Recent genomic profiling identified a subset of CNS embryonal tumors with astroblastoma-like morphology that harbored MN1 gene fusions, termed "CNS high-grade neuroepithelial tumors with MN1 alteration" (CNS-HGNET-MN1). To further characterize the genetic alterations that drive astroblastomas, we performed targeted next-generation sequencing (NGS) of 500 cancer-associated genes in a series of eight cases. We correlated these findings with break-apart fluorescence in situ hybridization (FISH) analysis of the MN1 locus and genome-wide DNA methylation profiling. Four cases showed MN1 alteration by FISH, including two pediatric cases that lacked other pathogenic alterations, and two adult cases that harbored other cancer-associated gene mutations or copy number alterations (eg, CDKN2A/B homozygous deletion, TP53, ATM and TERT promoter mutations). Three of these cases grouped with the CNS-HGNET-MN1 entity by methylation profiling. Two of four MN1 intact cases by FISH showed genetic features of either anaplastic pleomorphic xanthoastrocytoma (BRAF p.V600E mutation, CDKN2A/B homozygous deletion and TERT promoter mutation) or IDH-wildtype glioblastoma (trisomy 7, monosomy 10, CDK4 amplification and TP53, NRAS and TERT promoter mutations) and these cases had an aggressive clinical course. Two clinically indolent cases remained unclassifiable despite multimodal molecular analysis. We conclude that astroblastoma histology is not specific for any entity including CNS-HGNET-MN1, and that additional genetic characterization should be considered for astroblastomas, as a number of these tumors likely contain a methylation profile or genetic alterations that suggest classification as other tumor entities. Our heterogeneous molecular findings help to explain the clinical unpredictability of astroblastoma. © 2017 International Society of Neuropathology.

Acute HIV infection presenting as hemophagocytic syndrome with an unusual serological and virological response to ART.

PubMed

Ferraz, Rita Veiga; Carvalho, Ana Cláudia; Araújo, Fernando; Koch, Carmo; Abreu, Cândida; Sarmento, António

2016-10-28

HIV clinical presentation in the acute stage is variable and some of its virological and immunological aspects are not completely understood. Most cases of HIV- associated reactive hemophagocytic syndrome have been reported in patients with advanced stages of HIV and to our knowledge, there are only 8 cases in the English literature presenting during acute HIV infection, most in East Asia, being this the first case in a European patient. We report a case of a European Caucasian 27- year old woman with a primary HIV- infection presenting with extremely low CD4+ T cell count who developed a haemophagocytic syndrome after starting ART and in whom we documented a very unusual serological and virological response, characterized by an impaired HIV- antibody production and a 12 month time frame to reach an undetectable viral load, despite no evidence of resistance. This case report apart from describing an unusual clinical presentation of an acute HIV infection as hemophagocytic syndrome provides useful information that might contribute for understanding some subtle issues in acute HIV infection, namely the dynamics of virological and immunological aspects after antiretroviral therapy initiation.

Primary squamous cell carcinoma of the breast with unusual basal-HER2 phenotype.

PubMed

Shui, Ruohong; Li, Anqi; Yang, Fei; Zhou, Xiaoyan; Yu, Baohua; Xu, Xiaoli; Yang, Wentao

2014-01-01

To report three cases of primary squamous cell carcinoma of the breast with an unusual "basal-HER2" phenotype. Clinical data were analyzed. Morphological features were observed. Immunohistochemical study for ER, PR, HER2, Ki-67, CK 5/6, CK10/13, CK14, EGFR, P63 and FISH detection of HER2 gene amplification were performed. Three patients were all female with 26, 57 and 66 years old. The tumors were 3 cm, 4 cm and 5 cm in size respectively. Morphologically, all three tumors were pure squamous cell carcinoma and entirely composed metaplastic squamous cells. Two tumors were moderately differentiated and one was poorly differentiated. All three patients were positive for P63 or CK10/13. All three tumors exhibited basal-HER2 phenotype: negative for ER and PR, positive for HER2 protein and HER2 gene amplification, and positive for at least two basal markers. SCC with basal-HER2 phenotype is an extremely rare subset of breast carcinoma. Since it may have worse prognosis than typical basal-like SCC, recognization of this unusual SCC in routine work may have obvious clinical significance.

Mucormycosis Caused by Unusual Mucormycetes, Non-Rhizopus, -Mucor, and -Lichtheimia Species

PubMed Central

Gomes, Marisa Z. R.; Lewis, Russell E.; Kontoyiannis, Dimitrios P.

2011-01-01

Summary: Rhizopus, Mucor, and Lichtheimia (formerly Absidia) species are the most common members of the order Mucorales that cause mucormycosis, accounting for 70 to 80% of all cases. In contrast, Cunninghamella, Apophysomyces, Saksenaea, Rhizomucor, Cokeromyces, Actinomucor, and Syncephalastrum species individually are responsible for fewer than 1 to 5% of reported cases of mucormycosis. In this review, we provide an overview of the epidemiology, clinical manifestations, diagnosis of, treatment of, and prognosis for unusual Mucormycetes infections (non-Rhizopus, -Mucor, and -Lichtheimia species). The infections caused by these less frequent members of the order Mucorales frequently differ in their epidemiology, geographic distribution, and disease manifestations. Cunninghamella bertholletiae and Rhizomucor pusillus affect primarily immunocompromised hosts, mostly resulting from spore inhalation, causing pulmonary and disseminated infections with high mortality rates. R. pusillus infections are nosocomial or health care related in a large proportion of cases. While Apophysomyces elegans and Saksenaea vasiformis are occasionally responsible for infections in immunocompromised individuals, most cases are encountered in immunocompetent individuals as a result of trauma, leading to soft tissue infections with relatively low mortality rates. Increased knowledge of the epidemiology and clinical presentations of these unusual Mucormycetes infections may improve early diagnosis and treatment. PMID:21482731

Bronchogenic cyst presenting as a symptomatic neck mass in an adult: case report and review of the literature.

PubMed

Al-kasspooles, Mazin F; Alberico, Ronald A; Douglas, Wade G; Litwin, Alan M; Wiseman, Sam M; Rigual, Nestor R; Loree, Thom R; Hicks, Wesley L

2004-12-01

We report the unusual clinical manifestation and subsequent management of a symptomatic congenital bronchogenic cyst that connected to the trachea and presented in the neck of an adult. The embryology, clinical presentation, diagnostic evaluation, and management options of this rare aberration are discussed.

Assessing the Representation of Occupation Information in Free-Text Clinical Documents Across Multiple Sources

PubMed Central

Lindemann, Elizabeth A.; Chen, Elizabeth S.; Rajamani, Sripriya; Manohar, Nivedha; Wang, Yan; Melton, Genevieve B.

2017-01-01

There has been increasing recognition of the key role of social determinants like occupation on health. Given the relatively poor understanding of occupation information in electronic health records (EHRs), we sought to characterize occupation information within free-text clinical document sources. From six distinct clinical sources, 868 total occupation-related sentences were identified for the study corpus. Building off approaches from previous studies, refined annotation guidelines were created using the National Institute for Occupational Safety and Health Occupational Data for Health data model with elements added to increase granularity. Our corpus generated 2,005 total annotations representing 39 of 41 entity types from the enhanced data model. Highest frequency entities were: Occupation Description (17.7%); Employment Status – Not Specified (12.5%); Employer Name (11.0%); Subject (9.8%); Industry Description (6.2%). Our findings support the value for standardizing entry of EHR occupation information to improve data quality for improved patient care and secondary uses of this information. PMID:29295142

Motor palsies of cranial nerves (excluding VII) after vaccination: reports to the US Vaccine Adverse Event Reporting System.

PubMed

Woo, Emily Jane; Winiecki, Scott K; Ou, Alan C

2014-01-01

We reviewed cranial nerve palsies, other than VII, that have been reported to the US Vaccine Adverse Event Reporting System (VAERS). We examined patterns for differences in vaccine types, seriousness, age, and clinical characteristics. We identified 68 reports of cranial nerve palsies, most commonly involving the oculomotor (III), trochlear (IV), and abducens (VI) nerves. Isolated cranial nerve palsies, as well as palsies occurring as part of a broader clinical entity, were reported. Forty reports (59%) were classified as serious, suggesting that a cranial nerve palsy may sometimes be the harbinger of a broader and more ominous clinical entity, such as a stroke or encephalomyelitis. There was no conspicuous clustering of live vs. inactivated vaccines. The patient age range spanned the spectrum from infants to the elderly. Independent data may help to clarify whether, when, and to what extent the rates of cranial nerve palsies following particular vaccines may exceed background levels.

Clinically distinct presentations of copper deficiency myeloneuropathy and cytopenias in a patient using excessive zinc-containing denture adhesive.

PubMed

Cathcart, Sahara J; Sofronescu, Alina G

2017-08-01

While copper deficiency has long been known to cause cytopenias, copper deficiency myeloneuropathy is a more recently described entity. Here, we present the case of two clinically distinct presentations of acquired copper deficiency syndromes secondary to excessive use of zinc-containing denture adhesive over five years: myeloneuropathy and severe macrocytic anemia and neutropenia. Extensive laboratory testing and histologic evaluation of the liver and bone marrow, were necessary to rule out other disease processes and establish the diagnosis of copper deficiency. The initial presentation consisted of a myelopathy involving the posterior columns. Serum and urine copper were significantly decreased, and serum zinc was elevated. On second presentation (five years later), multiple hematological abnormalities were detected. Serum copper was again decreased, while serum zinc was elevated. Zinc overload is a preventable cause of copper deficiency syndromes. This rare entity presented herein highlights the importance of patient, as well as provider, education. Copyright © 2017 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.

A Dimensional Bus model for integrating clinical and research data.

PubMed

Wade, Ted D; Hum, Richard C; Murphy, James R

2011-12-01

Many clinical research data integration platforms rely on the Entity-Attribute-Value model because of its flexibility, even though it presents problems in query formulation and execution time. The authors sought more balance in these traits. Borrowing concepts from Entity-Attribute-Value and from enterprise data warehousing, the authors designed an alternative called the Dimensional Bus model and used it to integrate electronic medical record, sponsored study, and biorepository data. Each type of observational collection has its own table, and the structure of these tables varies to suit the source data. The observational tables are linked to the Bus, which holds provenance information and links to various classificatory dimensions that amplify the meaning of the data or facilitate its query and exposure management. The authors implemented a Bus-based clinical research data repository with a query system that flexibly manages data access and confidentiality, facilitates catalog search, and readily formulates and compiles complex queries. The design provides a workable way to manage and query mixed schemas in a data warehouse.

An unusual case of lumbar paravertebral miositis ossificans mimicking muscular skeletal tumor.

PubMed

Zoccali, C; Chichierchia, G; Covello, R

2013-12-01

Several lesions have clinical and radiological characteristics mimicking muscular skeletal tumor. Myositis ossificans usually presents a typical pattern making biopsy unnecessary; nevertheless, in rare cases, neoplasm must be ruled out. Biopsy is often sufficient to allow a diagnosis and a correct related treatment, but, unfortunately, sometimes it may lead to erroneous treatment. We report an unusual case of a lumbar paravertebral mass that had an MRI aspect similar to a chondrosarcoma, a histology pattern based on biopsy compatible with neurinoma and a definitive diagnosis of myosistis ossificans.

Enterobius granuloma: an unusual cause of omental mass in an 11-year-old girl.

PubMed

Kılıç, Sinan; Ekinci, Saniye; Orhan, Diclehan; Senocak, Mehmet Emin

2014-01-01

Enterobius vermicularis (pinworm) is the only nematode that infects humans. It is one of the most common intestinal parasites. Pinworm commonly infests the terminal ileum and colon, and does not cause severe morbidity unless ectopic infection occurs. However, granulomatous lesions caused by ectopic Enterobius vermicularis infection may lead to unusual clinical symptoms and may be misinterpreted as malignant lesions. Herein, the authors present an 11-year-old girl with pinworm infection who presented with abdominal pain and an omental mass, with special emphasis on the diagnosis and treatment.

Oral mucocele of unusual size on the buccal mucosa: clinical presentation and surgical approach.

PubMed

Seo, Juliana; Bruno, Ingrid; Artico, Gabriela; Vechio, Aluana Dal; Migliari, Dante A

2012-01-01

Oral mucoceles are small-size, benign minor salivary gland pathologies. The most frequent localizations of these lesions are the lower lip mucosa. However, in some cases, they grow to an unusual size and hinder the preliminary diagnosis of mucocele. The purpose of this article is to report a case of a large oral mucocele with a diameter of 3.5 cm on the buccal mucosa of a 43-years-old male patient. The surgical procedure was carried out for a complete removal of the lesion.

Oral Mucocele of Unusual Size on the Buccal Mucosa: Clinical Presentation and Surgical Approach

PubMed Central

Seo, Juliana; Bruno, Ingrid; Artico, Gabriela; Vechio, Aluana dal; Migliari, Dante A

2012-01-01

Oral mucoceles are small-size, benign minor salivary gland pathologies. The most frequent localizations of these lesions are the lower lip mucosa. However, in some cases, they grow to an unusual size and hinder the preliminary diagnosis of mucocele. The purpose of this article is to report a case of a large oral mucocele with a diameter of 3.5 cm on the buccal mucosa of a 43-years-old male patient. The surgical procedure was carried out for a complete removal of the lesion. PMID:22550550

Unusual multifocal granulomatous disease caused by actinomycetous bacteria in a nestling Derbyan parrot (Psittacula derbiana).

PubMed

Park, F J; Jaensch, S

2009-01-01

A nestling Derbyan parrot (Psittacula derbiana) was presented with unusual subcutaneous swellings of the thigh regions, and poor growth. Histological examination revealed actinomycetous bacteria associated with multifocal systemic granulomas. The clinical and pathological findings of the case are presented, and some relevant aspects of actinomycetous bacterial infections in mammals and birds are discussed. Although granulomatous disease is encountered at times in avian species, the actinomycetous bacteria (Nocardia and Actinomyces spp.) have rarely been reported in association with multifocal granulomatous disease in birds.

An unusual presentation of primary malignant B-cell-type dural lymphoma

PubMed Central

Low, Yin Yee Sharon; Lai, Siang Hui; Ng, Wai Hoe

2014-01-01

Primary malignant B-cell-type dural lymphoma is a rare subtype of primary central nervous system lymphoma (PCNSL). We herein report an unusual case of diffuse B-cell lymphoma that presents as a chronic subdural haematoma without extracranial involvement. The notable aspects of this case include the patient’s immunocompetence, a short clinical history of symptom onset, rapid neurological deterioration and a final diagnosis of high-grade PCNSL. This case highlights the challenges neurosurgeons face, especially in the emergency setting, when the disease manifests in varied presentations. PMID:25631982

Current Evaluation of the Millennium Phytomedicine— Ginseng (II): Collected Chemical Entities, Modern Pharmacology, and Clinical Applications Emanated from Traditional Chinese Medicine

PubMed Central

Jia, Lee; Zhao, Yuqing; Liang, Xing-Jie

2009-01-01

This review, a sequel to part 1 in the series, collects about 107 chemical entities separated from the roots, leaves and flower buds of Panax ginseng, quinquefolius and notoginseng, and categorizes these entities into about 18 groups based on their structural similarity. The bioactivities of these chemical entities are described. The ‘Yin and Yang’ theory and the fundamentals of the ‘five elements’ applied to the traditional Chinese medicine (TCM) are concisely introduced to help readers understand how ginseng balances the dynamic equilibrium of human physiological processes from the TCM perspectives. This paper concerns the observation and experimental investigation of biological activities of ginseng used in the TCM of past and present cultures. The current biological findings of ginseng and its medical applications are narrated and critically discussed, including 1) its antihyperglycemic effect that may benefit type II diabetics; in vitro and in vivo studies demonstrated protection of ginseng on beta-cells and obese diabetic mouse models. The related clinical trial results are stated. 2) its aphrodisiac effect and cardiovascular effect that partially attribute to ginseng’s bioactivity on nitric oxide (NO); 3) its cognitive effect and neuropharmacological effect that are intensively tested in various rat models using purified ginsenosides and show a hope to treat Parkinson’s disease (PD); 4) its uses as an adjuvant or immunotherapeutic agent to enhance immune activity, appetite and life quality of cancer patients during their chemotherapy and radiation. Although the apoptotic effect of ginsenosides, especially Rh2, Rg3 and Compound K, on various tumor cells has been shown via different pathways, their clinical effectiveness remains to be tested. This paper also updates the antioxidant, anti-inflammatory, anti-apoptotic and immune-stimulatory activities of ginseng, its ingredients and commercial products, as well as common side effects of ginseng mainly due to its overdose, and its pharmacokinetics. PMID:19689273

Current evaluation of the millennium phytomedicine- ginseng (II): Collected chemical entities, modern pharmacology, and clinical applications emanated from traditional Chinese medicine.

PubMed

Jia, Lee; Zhao, Yuqing; Liang, Xing-Jie

2009-01-01

This review, a sequel to part 1 in the series, collects about 107 chemical entities separated from the roots, leaves and flower buds of Panax ginseng, quinquefolius and notoginseng, and categorizes these entities into about 18 groups based on their structural similarity. The bioactivities of these chemical entities are described. The 'Yin and Yang' theory and the fundamentals of the 'five elements' applied to the traditional Chinese medicine (TCM) are concisely introduced to help readers understand how ginseng balances the dynamic equilibrium of human physiological processes from the TCM perspectives. This paper concerns the observation and experimental investigation of biological activities of ginseng used in the TCM of past and present cultures. The current biological findings of ginseng and its medical applications are narrated and critically discussed, including 1) its antihyperglycemic effect that may benefit type II diabetics; in vitro and in vivo studies demonstrated protection of ginseng on beta-cells and obese diabetic mouse models. The related clinical trial results are stated. 2) its aphrodisiac effect and cardiovascular effect that partially attribute to ginseng's bioactivity on nitric oxide (NO); 3) its cognitive effect and neuropharmacological effect that are intensively tested in various rat models using purified ginsenosides and show a hope to treat Parkinson's disease (PD); 4) its uses as an adjuvant or immunotherapeutic agent to enhance immune activity, appetite and life quality of cancer patients during their chemotherapy and radiation. Although the apoptotic effect of ginsenosides, especially Rh2, Rg3 and Compound K, on various tumor cells has been shown via different pathways, their clinical effectiveness remains to be tested. This paper also updates the antioxidant, anti-inflammatory, anti-apoptotic and immune-stimulatory activities of ginseng, its ingredients and commercial products, as well as common side effects of ginseng mainly due to its overdose, and its pharmacokinetics.

Charles Bonnet syndrome: three cases in the emergency department.

PubMed

Frost, Elizabeth J; Mottley, J Lawrence; Edlow, Jonathan A

2012-05-01

Charles Bonnet Syndrome (CBS) is a cause of visual hallucinations in elderly patients that is often unrecognized by emergency physicians and has a relatively benign course. As the population ages, it is likely that the number of cases of CBS will increase (and thus, the numbers of those who present to an Emergency Department [ED] will be increasing). The case reports presented in this article will facilitate the recognition of CBS by the emergency physician. We describe 3 patients who presented to one ED for visual disturbances and were diagnosed with CBS in a 4-month time period. Recognition of this unusual but stereotypical cause of visual disturbances facilitates an accurate diagnosis, and spares patients the time and expense of blood testing, imaging, and consultations. If emergency physicians begin to recognize this benign entity, we can provide improved (and safer) patient care with appropriate ED interventions. Copyright © 2012 Elsevier Inc. All rights reserved.

An unusual type of polymorphism in a liquid crystal

DOE PAGES

Li, Lin; Salamonczyk, Miroslaw; Shadpour, Sasan; ...

2018-02-19

Polymorphism is a remarkable concept in chemistry, materials science, computer science, and biology. Whether it is the ability of a material to exist in two or more crystal structures, a single interface connecting to two different entities, or alternative phenotypes of an organism, polymorphism determines function and properties. In materials science, polymorphism can be found in an impressively wide range of materials, including crystalline materials, minerals, metals, alloys, and polymers. Here in this paper we report on polymorphism in a liquid crystal. A bent-core liquid crystal with a single chiral side chain forms two structurally and morphologically significantly different liquidmore » crystal phases solely depending on the cooling rate from the isotropic liquid state. On slow cooling, the thermodynamically more stable oblique columnar phase forms, and on rapid cooling, a not heretofore reported helical microfilament phase. Since structure determines function and properties, the structural color for these phases also differs.« less

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

PubMed

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

1997-01-01

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

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.

Paraneoplastic Cushing Syndrome Due To Wilm's Tumor.

PubMed

Faizan, Mahwish; Manzoor, Jaida; Saleem, Muhammad; Anwar, Saadia; Mehmood, Qaiser; Hameed, Ambreen; Ali, Agha Shabbir

2017-05-01

Paraneoplastic syndromes are rare disorders that are triggered by an altered immune system response to neoplasm. Paraneoplastic syndromes may be the first or the most prominent manifestations of cancer. Wilm's tumor is the most frequent pediatric renal malignancy and usually presents with abdominal mass. Unusual presentations like acquired von Willebrand disease, sudden death due to pulmonary embolism and Cushing syndrome have been described in the literature. Cushing syndrome, as the presenting symptom of a malignant renal tumor in children, is a very rare entity. Few case reports are available in the literature exploring the option of preoperative chemotherapy as well as upfront nephrectomy. We report a rare case of paraneoplastic Cushing syndrome due to a Wilm's tumor. Based on gradual decrease of postoperative weight, blood pressure, serum adrenocorticotropic hormone, and plasma cortisol levels, along with histological confirmation of Wilm's tumor, paraneoplastic Cushing syndrome due to Wilm's tumor was confirmed.

Duodenal perforation: an unusual complication of sickle cell anemia.

PubMed

Acıpayam, Can; Aldıç, Güliz; Akçora, Bülent; Çelikkaya, Mehmet Emin; Aşkar, Hasan; Dorum, Bayram Ali

2014-01-01

Duodenal perforation in childhood is a rare condition with a high mortality rate if not treated surgically. Primary gastroduodenal perforation is frequently associated with peptic ulcer and exhibits a positive family history. Helicobacter pylorus is the most significant agent. Secondary gastroduodenal perforation may be a finding of specific diseases, such as Crohn disease, or more rarely may be associated with diseases such as cystic fibrosis or sickle cell anemia. A 14-year-old boy presented with abdominal and back pain. The patient was operated on for acute abdomen and diagnosed with duodenal perforation. Helicobacter pylorus was negative. There was no risk factor to account for duodenal perforation other than sickle cell anemia. Surgical intervention was successful and without significant sequelae. Duodenal perforation is a rare entity described in patients with sickle cell anemia. To our knowledge, this is the first report of duodenal perforation in a patient sickle cell anemia.

Duodenal perforation: an unusual complication of sickle cell anemia

PubMed Central

Acıpayam, Can; Aldıç, Güliz; Akçora, Bülent; Çelikkaya, Mehmet Emin; Aşkar, Hasan; Dorum, Bayram Ali

2014-01-01

Duodenal perforation in childhood is a rare condition with a high mortality rate if not treated surgically. Primary gastroduodenal perforation is frequently associated with peptic ulcer and exhibits a positive family history. Helicobacter pylorus is the most significant agent. Secondary gastroduodenal perforation may be a finding of specific diseases, such as Crohn disease, or more rarely may be associated with diseases such as cystic fibrosis or sickle cell anemia. A 14-year-old boy presented with abdominal and back pain. The patient was operated on for acute abdomen and diagnosed with duodenal perforation. Helicobacter pylorus was negative. There was no risk factor to account for duodenal perforation other than sickle cell anemia. Surgical intervention was successful and without significant sequelae. Duodenal perforation is a rare entity described in patients with sickle cell anemia. To our knowledge, this is the first report of duodenal perforation in a patient sickle cell anemia. PMID:25422692

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

PubMed Central

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

2018-01-01

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

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

PubMed

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

2018-05-01

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

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

PubMed Central

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

2010-01-01

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

[Multiple long bone fractures in a child with pycnodysostosis. A case report].

PubMed

Rojas, Paula I; Niklitschek, Nathia E; Sepúlveda, Matías F

2016-06-01

Fractures are an important entity to consider in pediatric patients. There are certain diseases in which bones fracture with a minimal trauma. Pycnodysostosis is an autosomal recessive unusual type of cráneo metaphyseal dysplasia, that presents frequently as fracture in a pathological bone. A 9 year old caucasian female, diagnosed with pycnodysostosis, was admitted with a right femur fracture as a result of a low energy trauma. Radiographic studies showed bilateral femur fractures, proximal fracture and non-union in antecurvatum of the left tibia. Pycnodysostosis is a rare disease, generally diagnosed at an early age by growth restriction, frequent fractures or fractures with low energy trauma. Therapy alternatives are limited, and no permanent cure has been developed. If a patient has dysmorphic facial features and fractures in a pathological bone, it is important to suspect bone dysplasia, such as pycnodysostosis and its differential diagnoses. Sociedad Argentina de Pediatría.

Posterior reversible encephalopathy syndrome: a case of unusual diffusion-weighted MR images.

PubMed

Benziada-Boudour, A; Schmitt, E; Kremer, S; Foscolo, S; Rivière, A-S; Tisserand, M; Boudour, A; Bracard, S

2009-05-01

Posterior reversible encephalopathy (PRES) represents an uncommon entity related to multiple pathologies, the most common of which is hypertensive crisis. PRES is classically characterized as symmetrical parieto-occipital edema, but may affect other areas of the brain. Diffusion-weighted magnetic resonance imaging (DWI) is important for differentiating between vasogenic and cytotoxic edema. We present here the case of a 43-year-old woman, known to suffer from arterial hypertension and severe renal failure, who developed PRES with restricted apparent diffusion coefficients (ADC) in various cerebral areas, suggesting irreversible tissue damage. Nevertheless, follow-up cranial MRI revealed complete remission, indicating that restricted diffusion does not always lead to cell death in this pathology. The underlying pathophysiological mechanism is not well understood. Such reversibility of diffusion anomalies has already been reported with transient ischemia, vasospasm after subarachnoid hemorrhage and epilepsy but, to our knowledge, never before in PRES.

Calcium Apatite Deposition Disease: Diagnosis and Treatment

PubMed Central

2016-01-01

Calcium apatite deposition disease (CADD) is a common entity characterized by deposition of calcium apatite crystals within and around connective tissues, usually in a periarticular location. CADD most frequently involves the rotator cuff. However, it can theoretically occur in almost any location in the musculoskeletal system, and many different locations of CADD have been described. When CADD presents in an unexpected location it can pose a diagnostic challenge, particularly when associated with pain or swelling, and can be confused with other pathologic processes, such as infection or malignancy. However, CADD has typical imaging characteristics that usually allows for a correct diagnosis to be made without additional imaging or laboratory workup, even when presenting in unusual locations. This is a review of the common and uncommon presentations of CADD in the appendicular and axial skeleton as well as an updated review of pathophysiology of CADD and current treatments. PMID:28042481

An unusual type of polymorphism in a liquid crystal

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

Li, Lin; Salamonczyk, Miroslaw; Shadpour, Sasan

Polymorphism is a remarkable concept in chemistry, materials science, computer science, and biology. Whether it is the ability of a material to exist in two or more crystal structures, a single interface connecting to two different entities, or alternative phenotypes of an organism, polymorphism determines function and properties. In materials science, polymorphism can be found in an impressively wide range of materials, including crystalline materials, minerals, metals, alloys, and polymers. Here in this paper we report on polymorphism in a liquid crystal. A bent-core liquid crystal with a single chiral side chain forms two structurally and morphologically significantly different liquidmore » crystal phases solely depending on the cooling rate from the isotropic liquid state. On slow cooling, the thermodynamically more stable oblique columnar phase forms, and on rapid cooling, a not heretofore reported helical microfilament phase. Since structure determines function and properties, the structural color for these phases also differs.« less

ACUTE RETINAL ARTERIAL OCCLUSIVE DISORDERS

PubMed Central

Hayreh, Sohan Singh

2011-01-01

The initial section deals with basic sciences; among the various topics briefly discussed are the anatomical features of ophthalmic, central retinal and cilioretinal arteries which may play a role in acute retinal arterial ischemic disorders. Crucial information required in the management of central retinal artery occlusion (CRAO) is the length of time the retina can survive following that. An experimental study shows that CRAO for 97 minutes produces no detectable permanent retinal damage but there is a progressive ischemic damage thereafter, and by 4 hours the retina has suffered irreversible damage. In the clinical section, I discuss at length various controversies on acute retinal arterial ischemic disorders. Classification of acute retinal arterial ischemic disorders These are of 4 types: CRAO, branch retinal artery occlusion (BRAO), cotton wools spots and amaurosis fugax. Both CRAO and BRAO further comprise multiple clinical entities. Contrary to the universal belief, pathogenetically, clinically and for management, CRAO is not one clinical entity but 4 distinct clinical entities – non-arteritic CRAO, non-arteritic CRAO with cilioretinal artery sparing, arteritic CRAO associated with giant cell arteritis (GCA) and transient non-arteritic CRAO. Similarly, BRAO comprises permanent BRAO, transient BRAO and cilioretinal artery occlusion (CLRAO), and the latter further consists of 3 distinct clinical entities - non-arteritic CLRAO alone, non-arteritic CLRAO associated with central retinal vein occlusion and arteritic CLRAO associated with GCA. Understanding these classifications is essential to comprehend fully various aspects of these disorders. Central retinal artery occlusion The pathogeneses, clinical features and management of the various types of CRAO are discussed in detail. Contrary to the prevalent belief, spontaneous improvement in both visual acuity and visual fields does occur, mainly during the first 7 days. The incidence of spontaneous visual acuity improvement during the first 7 days differs significantly (p<0.001) among the 4 types of CRAO; among them, in eyes with initial visual acuity of counting finger or worse, visual acuity improved, remained stable or deteriorated in nonarteritic CRAO in 22%, 66% and 12% respectively; in nonarteritic CRAO with cilioretinal artery sparing in 67%, 33% and none respectively; and in transient nonarteritic CRAO in 82%, 18% and none respectively. Arteritic CRAO shows no change. Recent studies have shown that administration of local intra-arterial thrombolytic agent not only has no beneficial effect but also can be harmful. Prevalent multiple misconceptions on CRAO are discussed. Branch retinal artery occlusion Pathogeneses, clinical features and management of various types of BRAO are discussed at length. The natural history of visual acuity outcome shows a final visual acuity of 20/40 or better in 89% of permanent BRAO cases, 100% of transient BRAO and 100% of nonarteritic CLRAO alone. Cotton wools spots These are common, non-specific acute focal retinal ischemic lesions, seen in many retinopathies. Their pathogenesis and clinical features are discussed in detail. Amaurosis fugax Its pathogenesis, clinical features and management are described. PMID:21620994

Balancing exploration and exploitation in transferring research into practice: a comparison of five knowledge translation entity archetypes

PubMed Central

2013-01-01

Background Translating knowledge from research into clinical practice has emerged as a practice of increasing importance. This has led to the creation of new organizational entities designed to bridge knowledge between research and practice. Within the UK, the Collaborations for Leadership in Applied Health Research and Care (CLAHRC) have been introduced to ensure that emphasis is placed in ensuring research is more effectively translated and implemented in clinical practice. Knowledge translation (KT) can be accomplished in various ways and is affected by the structures, activities, and coordination practices of organizations. We draw on concepts in the innovation literature—namely exploration, exploitation, and ambidexterity—to examine these structures and activities as well as the ensuing tensions between research and implementation. Methods Using a qualitative research approach, the study was based on 106 semi-structured, in-depth interviews with the directors, theme leads and managers, key professionals involved in research and implementation in nine CLAHRCs. Data was also collected from intensive focus group workshops. Results In this article we develop five archetypes for organizing KT. The results show how the various CLAHRC entities work through partnerships to create explorative research and deliver exploitative implementation. The different archetypes highlight a range of structures that can achieve ambidextrous balance as they organize activity and coordinate practice on a continuum of exploration and exploitation. Conclusion This work suggests that KT entities aim to reach their goals through a balance between exploration and exploitation in the support of generating new research and ensuring knowledge implementation. We highlight different organizational archetypes that support various ways to maintain ambidexterity, where both exploration and exploitation are supported in an attempt to narrow the knowledge gaps. The KT entity archetypes offer insights on strategies in structuring collaboration to facilitate an effective balance of exploration and exploitation learning in the KT process. PMID:24007259

Balancing exploration and exploitation in transferring research into practice: a comparison of five knowledge translation entity archetypes.

PubMed

Oborn, Eivor; Barrett, Michael; Prince, Karl; Racko, Girts

2013-09-05

Translating knowledge from research into clinical practice has emerged as a practice of increasing importance. This has led to the creation of new organizational entities designed to bridge knowledge between research and practice. Within the UK, the Collaborations for Leadership in Applied Health Research and Care (CLAHRC) have been introduced to ensure that emphasis is placed in ensuring research is more effectively translated and implemented in clinical practice. Knowledge translation (KT) can be accomplished in various ways and is affected by the structures, activities, and coordination practices of organizations. We draw on concepts in the innovation literature--namely exploration, exploitation, and ambidexterity--to examine these structures and activities as well as the ensuing tensions between research and implementation. Using a qualitative research approach, the study was based on 106 semi-structured, in-depth interviews with the directors, theme leads and managers, key professionals involved in research and implementation in nine CLAHRCs. Data was also collected from intensive focus group workshops. In this article we develop five archetypes for organizing KT. The results show how the various CLAHRC entities work through partnerships to create explorative research and deliver exploitative implementation. The different archetypes highlight a range of structures that can achieve ambidextrous balance as they organize activity and coordinate practice on a continuum of exploration and exploitation. This work suggests that KT entities aim to reach their goals through a balance between exploration and exploitation in the support of generating new research and ensuring knowledge implementation. We highlight different organizational archetypes that support various ways to maintain ambidexterity, where both exploration and exploitation are supported in an attempt to narrow the knowledge gaps. The KT entity archetypes offer insights on strategies in structuring collaboration to facilitate an effective balance of exploration and exploitation learning in the KT process.

An Unusual Cause of Acute Upper Gastrointestinal Bleeding: Acute Esophageal Necrosis

PubMed Central

Tokala, Madhusudhan R.; Dhillon, Sonu; Pisoh, Watcoun-Nchinda; Walayat, Saqib; Vanar, Vishwas; Puli, Srinivas R.

2016-01-01

Acute esophageal necrosis (AEN), also called “black esophagus,” is a condition characterized by circumferential necrosis of the esophagus with universal distal involvement and variable proximal extension with clear demarcation at the gastroesophageal junction. It is an unusual cause of upper gastrointestinal bleeding and is recognized with distinct and striking mucosal findings on endoscopy. The patients are usually older and are critically ill with shared comorbidities, which include atherosclerotic cardiovascular disease, diabetes mellitus, hypertension, chronic renal insufficiency, and malnutrition. Alcoholism and substance abuse could be seen in younger patients. Patients usually have systemic hypotension along with upper abdominal pain in the background of clinical presentation of hematemesis and melena. The endoscopic findings confirm the diagnosis and biopsy is not always necessary unless clinically indicated in atypical presentations. Herein we present two cases with distinct clinical presentation and discuss the endoscopic findings along with a review of the published literature on the management of AEN. PMID:27642529

Overgrowth syndromes with vascular anomalies.

PubMed

Blei, Francine

2015-04-01

Overgrowth syndromes with vascular anomalies encompass entities with a vascular anomaly as the predominant feature vs those syndromes with predominant somatic overgrowth and a vascular anomaly as a more minor component. The focus of this article is to categorize these syndromes phenotypically, including updated clinical criteria, radiologic features, evaluation, management issues, pathophysiology, and genetic information. A literature review was conducted in PubMed using key words "overgrowth syndromes and vascular anomalies" as well as specific literature reviews for each entity and supportive genetic information (e.g., somatic mosaicism). Additional searches in OMIM and Gene Reviews were conducted for each syndrome. Disease entities were categorized by predominant clinical features, known genetic information, and putative affected signaling pathway. Overgrowth syndromes with vascular anomalies are a heterogeneous group of disorders, often with variable clinical expression, due to germline or somatic mutations. Overgrowth can be focal (e.g., macrocephaly) or generalized, often asymmetrically (and/or mosaically) distributed. All germ layers may be affected, and the abnormalities may be progressive. Patients with overgrowth syndromes may be at an increased risk for malignancies. Practitioners should be attentive to patients having syndromes with overgrowth and vascular defects. These patients require proactive evaluation, referral to appropriate specialists, and in some cases, early monitoring for potential malignancies. Progress in identifying vascular anomaly-related overgrowth syndromes and their genetic etiology has been robust in the past decade and is contributing to genetically based prenatal diagnosis and new therapies targeting the putative causative genetic mutations. Copyright © 2015 Mosby, Inc. All rights reserved.

What is misophonia and how can we treat it?

PubMed

Cavanna, Andrea E

2014-04-01

Selective sound sensitivity syndrome or misophonia is a chronic condition characterized by unpleasant emotional experiences and autonomic arousal in response to specific sounds. Over the last few years there have been a few reports detailing the clinical features associated with this condition. These focused reports raise interesting questions about the nosological status of this potentially disabling clinical entity.

Melanotic MiT family translocation neoplasms: Expanding the clinical and molecular spectrum of this unique entity of tumors.

PubMed

Saleeb, Rola M; Srigley, John R; Sweet, Joan; Doucet, Cedric; Royal, Virginie; Chen, Ying-Bei; Brimo, Fadi; Evans, Andrew

2017-11-01

MiT family translocation tumors are a group of neoplasms characterized by translocations involving MiT family transcription factors. The translocation renal cell carcinomas, TFE3 (Xp11.2) and TFEB (t6;11) are known members of this family. Melanotic Xp11 translocation renal cancer is a more recently described entity. To date only 14 cases have been described. It is characterized by a distinct set of features including a nested epithelioid morphology, melanin pigmentation, labeling for markers of melanocytic differentiation, lack of labeling for markers of renal tubular differentiation, predominance in a younger age population and association with aggressive clinical behavior. There are noted similarities between that entity and TFE3 associated PEComas. There are no cases reported of equivalent melanotic TFEB translocation renal cancer. We report 2 rare cases of melanotic translocation renal neoplasms. The first is a melanotic TFE3 translocation renal cancer with an indolent clinical course, occurring in a patient more than 3-decades older than the usual average age in which such tumors have been described. The other case is, to our knowledge, the first reported melanotic TFEB translocation cancer of the kidney. Both cases exhibit the same H&E morphology as previously reported in melanotic translocation renal cancers and label accordingly with HMB45 and Melan-A. While the TFE3 melanotic tumor lacked any evidence of renal tubular differentiation, the TFEB melanotic cancer exhibited some staining for renal tubular markers. Based on the unique features noted above, these two cases expand the clinical and molecular spectrum of the melanotic translocation renal cancers. Copyright © 2017 Elsevier GmbH. All rights reserved.

Breast lesions of uncertain malignant nature and limited metastatic potential: Proposals to improve their recognition and clinical management

PubMed Central

Rakha, Emad A.; Badve, Sunil; Eusebi, Vincenzo; Reis-Filho, Jorge S.; Fox, Stephen B.; Dabbs, David J.; Decker, Thomas; Hodi, Zsolt; Ichihara, Shu; Lee, Andrew HS.; Palacios, José; Richardson, Andrea L.; Vincent-Salomon, Anne; Schmitt, Fernando C.; Tan, Puay-Hoon; Tse, Gary M.; Ellis, Ian O.

2016-01-01

Breast lesions comprise a family of heterogeneous entities with variable patterns of presentation, morphology and clinical behaviour. The majority of breast lesions are traditionally classified into benign and malignant conditions and their behaviour can, in the vast majority of cases, be predicted with a reasonable degree of accuracy. However, there remain lesions which show borderline features and lie in a grey-zone between benign and malignant as their behaviour cannot be predicted reliably. Defined pathological categorisation of such lesions is challenging and for some entities is recognised to be subjective and include a range of diagnoses, and forms of terminology, which may trigger over-treatment or under-treatment. The rarity of these lesions makes acquisition of clinical evidence problematic and limits the development of a sufficient evidence base to support informed decision making by clinicians and patients. Emerging molecular evidence is providing a greater understanding of the biology of these lesions, but this may or may not be reflected in their clinical behaviour. Herein we discuss some breast lesions that are associated with uncertainty regarding classification, behaviour and hence management. These include biologically invasive malignant lesions associated with uncertain metastatic potential such as low-grade adenosquamous carcinoma, low-grade fibromatosis-like spindle cell carcinoma and encapsulated papillary carcinoma. Other lesions remain of uncertain malignant nature such as mammary cylindroma, atypical microglandular adenosis, mammary pleomorphic adenoma and infiltrating epitheliosis. The concept of categories of 1) breast lesions of uncertain malignant nature and 2) breast lesions of limited metastatic potential, are proposed with details of which histological entities could be included in each category, and their management implications are discussed. PMID:26348644

A review of sub acute subdural hematoma (SASDH) with our institutional experience and its management by double barrel technique (DbT): A novel technique.

PubMed

Tripathy, Soubhagya R; Swarnakar, Pankaj K; Mishra, Sanjib; Mishra, Sudhanshu S; Dhir, Manmath K; Behera, Sanjay K; Nath, Pratap C; Jena, Somnath P; Mohanta, Itibrata; Das, Deepak; Satapathy, Mani C; Rout, Sitansu K; Behera, Bikash R; Parida, Deepak K; Rath, Tanushree S

2016-01-01

Subacute subdural hematoma (SASDH) is an entity which is yet to capture the popular imagination among the neurosurgeons. Its management is often equated clinically to that of the chronic subdural hematoma (CSDH). However, their neurological deterioration is usually rapid, which seems to align them with acute subdural hematoma (ASDH). We proceed for their epidemiological evaluation. The advantages of a novel "double barrel technique (DbT)" over the conventional burrhole drainage are also presented. This retrospective study was conducted on all the patients having clinical and radiological evidence of SASDH, admitted to a tertiary care referral institute, during the period August 2013 to December 2015. Postoperatively, patients were followed-up for 3-24 months. 46.87% of the patients belonged to the 35-54 year age group with a male predominance (3.6:1); 68.7% had a history of alcohol abuse, whereas aspirin users were 25%. 87.5% cases were unilateral, 18.75% were hemispheric, and 46.87% were present on the left side. Altered consciousness (100%) followed by headache (37.5%) were the most common presenting clinical features. SASDH is an uncommon neurosurgical entity (0.89% of traumatic brain injury cases in our study) and mimics both CSDH as well as ASDH. The true incidence of SASDH may have been underestimated due to its clinical imitation with CSDH. This study in a South Asian nation also provides the epidemiological data of this rare neurosurgical entity. Outcome of surgery is good; our retrospective study confirms that "DbT" is an adequate and safe treatment. However, a better designed, randomized control trial will be needed to reinforce our findings.

The International Society of Urological Pathology (ISUP) Vancouver Classification of Renal Neoplasia.

PubMed

Srigley, John R; Delahunt, Brett; Eble, John N; Egevad, Lars; Epstein, Jonathan I; Grignon, David; Hes, Ondrej; Moch, Holger; Montironi, Rodolfo; Tickoo, Satish K; Zhou, Ming; Argani, Pedram

2013-10-01

The classification working group of the International Society of Urological Pathology consensus conference on renal neoplasia was in charge of making recommendations regarding additions and changes to the current World Health Organization Classification of Renal Tumors (2004). Members of the group performed an exhaustive literature review, assessed the results of the preconference survey and participated in the consensus conference discussion and polling activities. On the basis of the above inputs, there was consensus that 5 entities should be recognized as new distinct epithelial tumors within the classification system: tubulocystic renal cell carcinoma (RCC), acquired cystic disease-associated RCC, clear cell (tubulo) papillary RCC, the MiT family translocation RCCs (in particular t(6;11) RCC), and hereditary leiomyomatosis RCC syndrome-associated RCC. In addition, there are 3 rare carcinomas that were considered as emerging or provisional new entities: thyroid-like follicular RCC; succinate dehydrogenase B deficiency-associated RCC; and ALK translocation RCC. Further reports of these entities are required to better understand the nature and behavior of these highly unusual tumors. There were a number of new concepts and suggested modifications to the existing World Health Organization 2004 categories. Within the clear cell RCC group, it was agreed upon that multicystic clear cell RCC is best considered as a neoplasm of low malignant potential. There was agreement that subtyping of papillary RCC is of value and that the oncocytic variant of papillary RCC should not be considered as a distinct entity. The hybrid oncocytic chromophobe tumor, which is an indolent tumor that occurs in 3 settings, namely Birt-Hogg-Dubé Syndrome, renal oncocytosis, and as a sporadic neoplasm, was placed, for the time being, within the chromophobe RCC category. Recent advances related to collecting duct carcinoma, renal medullary carcinoma, and mucinous spindle cell and tubular RCC were elucidated. Outside of the epithelial category, advances in our understanding of angiomyolipoma, including the epithelioid and epithelial cystic variants, were considered. In addition, the apparent relationship between cystic nephroma and mixed epithelial and stromal tumor was discussed, with the consensus that these tumors form a spectrum of neoplasia. Finally, it was thought that the synovial sarcoma should be removed from the mixed epithelial and mesenchymal category and placed within the sarcoma group. The new classification is to be referred to as the International Society of Urological Pathology Vancouver Classification of Renal Neoplasia.

Third wave of African swine fever infection in Armenia: Virus demonstrates the reduction of pathogenicity

PubMed Central

Sargsyan, M. A.; Voskanyan, H. E.; Karalova, E. M.; Hakobyan, L. H.; Karalyan, Z. A.

2018-01-01

Aim: First cases of clinically uncommon African swine fever (ASF), caused by virus genotype II are described in this article. These cases occurred in Armenia, Tavush region, Dilijan municipality in 2011. The aim of this study was to identify and describe the new pathogenic forms of ASF in Armenia. Materials and Methods: The isolation and identification of ASF virus (ASFV) were carried out using conventional techniques. Clinical signs of infection were recorded daily. Gross anatomical pathology characteristics were observed during routine postmortem examinations. Blood and serum were obtained by puncture of the jugular vein using a vacutainer system. Results: The presence of ASFV DNA in the spleens was confirmed by polymerase chain reaction. Sequenced sections of p72 showed phylogenetic identity to genotype 2. The pathology exhibits unusual manifestations of the main disease. The unusual form of ASF demonstrates characteristics of a subacute form of the disease, with the possibility of conversion to a chronic form. Decreased lethality, low level of hemorrhages, and absence of severe pancytopenia in smears from spleen, lymph nodes, and blood are common features of the new form of ASF. Unlike severe thrombocytopenia in the typical ASF, the unusual form exhibited moderate or minor decrease of this feature. Despite a moderate decrease in hemadsorption titers, the unusual pattern of the disease was characterized by viremia and the presence of the virus in the visceral organs, including the brain. Conclusion: Our data allow assuming that new nosological form of ASF (genotype II) may present as a transitional form of the disease with the possibility of chronization. PMID:29479149

A painful perineal lump: an unusual case of ectopic breast tissue

PubMed Central

Yongue, G; Leff, D; Lamb, BW; Karim, S; Aref, F; Vashisht, R

2011-01-01

We report the case of a 40-year-old lady who presented with an episodically painful perineal lump. Clinical and radiological investigations were inconclusive. Excision biopsy confirmed an ectopic breast mass. Ectopic breast tissue is difficult to diagnose but close attention to clinical findings can help to guide further investigation and diagnosis. PMID:22004627

An ontologically founded architecture for information systems in clinical and epidemiological research.

PubMed

Uciteli, Alexandr; Groß, Silvia; Kireyev, Sergej; Herre, Heinrich

2011-08-09

This paper presents an ontologically founded basic architecture for information systems, which are intended to capture, represent, and maintain metadata for various domains of clinical and epidemiological research. Clinical trials exhibit an important basis for clinical research, and the accurate specification of metadata and their documentation and application in clinical and epidemiological study projects represents a significant expense in the project preparation and has a relevant impact on the value and quality of these studies.An ontological foundation of an information system provides a semantic framework for the precise specification of those entities which are presented in this system. This semantic framework should be grounded, according to our approach, on a suitable top-level ontology. Such an ontological foundation leads to a deeper understanding of the entities of the domain under consideration, and provides a common unifying semantic basis, which supports the integration of data and the interoperability between different information systems.The intended information systems will be applied to the field of clinical and epidemiological research and will provide, depending on the application context, a variety of functionalities. In the present paper, we focus on a basic architecture which might be common to all such information systems. The research, set forth in this paper, is included in a broader framework of clinical research and continues the work of the IMISE on these topics.

Genetics Home Reference: L1 syndrome

MedlinePlus

... X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases. Acta Neuropathol. 2013 Sep; ... F. Three cases with L1 syndrome and two novel mutations in the L1CAM gene. Eur J Pediatr. ...

Isolation, Analysis and Antimicrobial Activity of the Acidic Fractions of Mastic, Kurdica, Mutica and Cabolica Gums from Genus Pistacia

PubMed Central

Sharifi, Mohammad Sharif; Hazell, Stuart Loyd

2012-01-01

The chemical entities of Mastic, Kurdica, Mutica and Cabolica gums from genus Pistacia have been isolated and characterised by GC-Mass Spectrometry, High Performance Liquid Chromatography and Column Chromatography. These chemical entities were screened for anti-microbial activities against nine strains of Helicobacter pylori and some other Gram-negative and Gram-positive bacteria. The most bioactive components were structurally analysed. These components mimic steroid compounds, in particular, the known antibiotic Fusidic acid. Some of these chemical entities have produced promising data that could lead to the development of a novel class of antimicrobial agents that may have application in the treatment of infectious disease. Kill kinetics have been also performed, and the produced data were evaluated by Generalized Multiplicative Analysis Of Variance (GEMANOVA) for the bactericidal and bacteriostatic activities which can be clinically significant. The isolated components were all bactericidal. PMID:22980113

Cryptogenic stroke. A non-diagnosis.

PubMed

Gutiérrez-Zúñiga, Raquel; Fuentes, Blanca; Díez-Tejedor, Exuperio

2018-04-30

The term cryptogenic stroke refers to a stroke for which there is no specific attributable cause after a comprehensive evaluation. However, there are differences between the diagnostic criteria of etiological classifications used in clinical practice. An improvement in diagnostic tools such advances in monitoring for atrial fibrillation, advances in vascular imaging and evidence regarding the implication of patent foramen oval on the risk of stroke specially in young patients are reducing the proportion of stroke patients without etiological diagnosis. We carried out a critical review of the current concept of cryptogenic stroke, as a non-diagnosis, avoiding the simplification of it and reviewing the different entities that could fall under this diagnosis and reviewing the different entities that could fall under this diagnosis; and therefore avoid the same treatment for differents entities with uncertains results. Copyright © 2018 Elsevier España, S.L.U. All rights reserved.

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

PubMed

Levine, C

1989-03-01

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

Moore-Federman syndrome and acromicric dysplasia: are they the same entity?

PubMed Central

Winter, R M; Patton, M A; Challener, J; Mueller, R F; Baraitser, M

1989-01-01

Four unrelated patients are reported with short stature, stiffness of the joints, short fingers, inability to make a fist, and thickened skin on the forearms. Investigations have failed to show a lysosomal storage disorder and radiographs show non-specific changes with a delayed carpal bone age. The clinical features in the four children are very similar to the recently described acromicric dysplasia. There are also similarities to Moore-Federman syndrome which has only been described in one family. The case is made that acromicric dysplasia and Moore-Federman syndrome are the same entity. Images PMID:2732993

Politics and Graduate Medical Education in Internal Medicine: A Dynamic Landscape.

PubMed

Wardrop, Richard M; Berkowitz, Lee R

2017-02-01

The promotion of change and growth within medical education is oftentimes the result of a complex mix of societal, cultural and economic forces. Graduate medical education in internal medicine is not immune to these forces. Several entities and organizations can be identified as having a major influence on internal medicine training and graduate medical education as a whole. We have reviewed how this is effectively accomplished through these entities and organizations. The result is a constantly changing and dynamic landscape for internal medicine training. Copyright © 2017 Southern Society for Clinical Investigation. Published by Elsevier Inc. All rights reserved.

Breast cancer - one term, many entities?

PubMed

Bertos, Nicholas R; Park, Morag

2011-10-01

Breast cancer, rather than constituting a monolithic entity, comprises heterogeneous tumors with different clinical characteristics, disease courses, and responses to specific treatments. Tumor-intrinsic features, including classical histological and immunopathological classifications as well as more recently described molecular subtypes, separate breast tumors into multiple groups. Tumor-extrinsic features, including microenvironmental configuration, also have prognostic significance and further expand the list of tumor-defining variables. A better understanding of the features underlying heterogeneity, as well as of the mechanisms and consequences of their interactions, is essential to improve targeting of existing therapies and to develop novel agents addressing specific combinations of features.

Product-related research: how research can contribute to successful life-cycle management.

PubMed

Sandner, Peter; Ziegelbauer, Karl

2008-05-01

Declining productivity with decreasing new molecular entity output combined with increased R&D spending is one of the key challenges for the entire pharmaceutical industry. In order to offset decreasing new molecular entity output, life-cycle management activities for established drugs become more and more important to maintain or even expand clinical indication and market opportunities. Life-cycle management covers a whole range of activities from strategic pricing to a next generation product launch. In this communication, we review how research organizations can contribute to successful life-cycle management strategies using phosphodiesterase 5 inhibitors as an example.

Surfer's myelopathy: case report and review.

PubMed

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

2011-09-01

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

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

PubMed

Becheanu, Gabriel; Stamm, Bernhard

2003-01-01

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

The Mobile Team of Parasitology-Mycology, a medical entity for educational purposes to serve sick patients.

PubMed

Desoubeaux, G; Simon, E G; Perrotin, D; Chandenier, J

2014-06-01

The Mobile Team of Parasitology-Mycology is a movable entity of the Parasitology-Mycology laboratory of Tours University Hospital, France. In contrast to the usual prerogatives of biomedical laboratories, the Mobile Team of Parasitology-Mycology is requested to intervene directly at bedside in various clinical departments, or even outside the hospital facility. Although its actions are of course primarily devoted to specialized diagnostic and therapeutic purposes, the Mobile Team also plays an important educational role in the medical training of undergraduate or graduate students. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

Unusual Association Between Spontaneous Lateral Sphenoid Encephalocele and Chiari Malformation Type I: Endoscopic Repair Through a Transpterygoid Approach.

PubMed

Starnoni, Daniele; Daniel, Roy Thomas; George, Mercy; Messerer, Mahmoud

2017-01-01

Spontaneous meningoencephaloceles of the lateral sphenoid sinus are rare entities, and their peculiar location represents a surgical challenge due to the importance of a wide exposure and skull base reconstruction. They are thought to arise from the congenital base defect of the lateral sphenoid or in some cases have been postulated to represent a rare manifestation of altered cerebrospinal fluid (CSF) dynamics. We report the first case in the literature of a Chiari malformation type I (CMI) and a lateral sphenoid encephalocele, revising the theoretic etiology and surgical technique of endoscopic repair. A 50-year-old woman with a surgical history of symptomatic CMI presented with episodes of spontaneous CSF rhinorrhea. Radiologic investigations revealed a left mesial temporal encephalocele herniating into the lateral recess of the sphenoid sinus and radiologic features of altered CSF dynamics, which may have played an etiologic role. An endoscopic transpterygoid excision of the encephalocele and multilayer skull base repair were performed. The association of spontaneous lateral sphenoid encephaloceles with CMI is distinctly unusual. Predisposing factors and disruption of CSF dynamics may play a major role in the development of these rare complications in patients with CMI. Because of their distinct location, transethmoid or transpterygoid endoscopic approaches represent an excellent surgical technique to treat these lesions thanks to their wide and direct visualization of the entire skull base defect following the encephalocele excision, allowing an adequate multilayer repair and lateral sphenoid recess occlusion. Copyright © 2016 Elsevier Inc. All rights reserved.

Pheochromocytoma of the Urinary Bladder - A Case Report of an Unusual Presentation.

PubMed

Nerli, Rajendra B; Magdum, Prasad V; Patil, Amey Y; Devraju, Shishir; Hiremath, M B

2015-09-01

Urinary bladder pheochromocytoma is rare. We report a case of bladder pheochromocytoma presenting with practically no obvious clinical symptoms in an adolescent who had undergone repair of mitral valve disease.

A clinical analysis of two indolent lymphoma entities: mantle cell lymphoma and marginal zone lymphoma (including the mucosa-associated lymphoid tissue and monocytoid B-cell subcategories): a Southwest Oncology Group study.

PubMed

Fisher, R I; Dahlberg, S; Nathwani, B N; Banks, P M; Miller, T P; Grogan, T M

1995-02-15

The objectives of this study were (1) to determine the clinical presentation and natural history associated with two newly recognized pathologic entities termed mantle cell lymphoma (MCL) and marginal zone lymphoma (MZL), including the mucosa-associated lymphoid tissue (MALT) and monocytoid B-cell subcategories, and (2) to determine whether these entities differ clinically from the other relatively indolent non-Hodgkin's lymphomas with which they have been previously classified. We reviewed the conventional pathology and clinical course of 376 patients who had no prior therapy; had stage III/IV disease; were classified as Working Formulation categories A, B, C, D, or E; and received cyclophosphamide, doxorubicin, vincristine, prednisone (CHOP) on Southwest Oncology Group (SWOG) studies no. 7204, 7426, or 7713. All slides were reviewed by the three pathologists who reached a consensus diagnosis. Age, sex, performance status, bone marrow and/or gastrointestinal involvement, failure-free survival, and overall survival were compared among all the categories. We found that (1) MCL and MZL each represent approximately 10% of stage III or IV patients previously classified as Working Formulation categories A through E and treated with CHOP on SWOG clinical trials; (2) the failure-free survival and overall survival of patients with MZL is the same as that of patients with Working Formulation categories A through E, but the failure-free survival and overall survival of the monocytoid B-cell patients were higher than that of the MALT lymphoma patients (P = .009 and .007, respectively); and (3) the failure-free survival and overall survival of patients with MCL is significantly worse than that of patients with Working Formulation categories A through E (P = .0002 and .0001, respectively). In conclusion, patients with advanced stage MALT lymphomas may have a more aggressive course than previously recognized. Patients with MCL do not have an indolent lymphoma and are candidates for innovative therapy.

Clinical features and course of refractory anemia with ring sideroblasts associated with marked thrombocytosis

PubMed Central

Broseus, Julien; Florensa, Lourdes; Zipperer, Esther; Schnittger, Susanne; Malcovati, Luca; Richebourg, Steven; Lippert, Eric; Cermak, Jaroslav; Evans, Jyoti; Mounier, Morgane; Raya, José Maria; Bailly, François; Gattermann, Norbert; Haferlach, Torsten; Garand, Richard; Allou, Kaoutar; Besses, Carlos; Germing, Ulrich; Haferlach, Claudia; Travaglino, Erica; Luno, Elisa; Pinan, Maria Angeles; Arenillas, Leonor; Rozman, Maria; Perez Sirvent, Maria Luz; Favre, Bernardine; Guy, Julien; Alonso, Esther; Ahwij, Nuhri; Jerez, Andrés; Hermouet, Sylvie; Maynadié, Marc; Cazzola, Mario; Girodon, François

2012-01-01

Background Refractory anemia with ring sideroblasts associated with marked thrombocytosis was proposed as a provisional entity in the 2001 World Health Organization classification of myeloid neoplasms and also in the 2008 version, but its existence as a single entity is contested. We wish to define the clinical features of this rare myelodysplastic/myeloproliferative neoplasm and to compare its clinical outcome with that of refractory anemia with ring sideroblasts and essential thrombocythemia. Design and Methods We conducted a collaborative retrospective study across Europe. Our database included 200 patients diagnosed with refractory anemia with ring sideroblasts and marked thrombocytosis. For each of these patients, each patient diagnosed with refractory anemia with ring sideroblasts was matched for age and sex. At the same time, a cohort of 454 patients with essential thrombocythemia was used to compare outcomes of the two diseases. Results In patients with refractory anemia with ring sideroblasts and marked thrombocytosis, depending on the Janus Kinase 2 V617F mutational status (positive or negative) or platelet threshold (over or below 600×109/L), no difference in survival was noted. However, these patients had shorter overall survival and leukemia-free survival with a lower risk of thrombotic complications than did patients with essential thrombocythemia (P<0.001) but better survival (P<0.001) and a higher risk of thrombosis (P=0.039) than patients with refractory anemia with ring sideroblasts. Conclusions The clinical course of refractory anemia with ring sideroblasts and marked thrombocytosis is better than that of refractory anemia with ring sideroblasts and worse than that of essential thrombocythemia. The higher risk of thrombotic events in this disorder suggests that anti-platelet therapy might be considered in this subset of patients. From a clinical point of view, it appears to be important to consider refractory anemia with ring sideroblasts and marked thrombocytosis as a distinct entity. PMID:22532522

Tuberculous pseudotumor of the liver

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

Dhekne, R.D.; Moore, W.H.; Long, S.E.

1987-10-01

Tuberculosis of the liver in association with generalized miliary tuberculosis is not an uncommon clinical entity. A solitary tuberculous liver abscess, however, is rare. Two such cases, in which there was no clinical evidence of extrahepatic tuberculosis, are reported. The similarities between this condition and other causes of hepatic lesions are discussed, with particular emphasis placed on the imaging patterns of various diagnostic imaging procedures.

Granulomatous lobular mastitis.

PubMed

Miliauskas, J R; Pieterse, A S; Williams, R S

1995-02-01

Two cases of benign lobular granulomatous mastitis, both clinically felt to be carcinoma, are reported. One patient was cured by local excision of the mass while the other was cured by oral prednisolone, demonstrating the variable ways to treat this entity. The clinical and histological features were similar to those noted in previous reports. Immunological studies revealed predominantly stromal T lymphocytes and only duct intra-epithelial T lymphocytes.

Age-related monoclonal gammapathies: clinical lessons from the aging C57BL mouse.

PubMed

Radl, J

1990-07-01

In this article the long-held notion that benign monoclonal gammapathy (BMG) is a premalignant stage in the development of multiple myeloma (MM) is attacked. Jiri Radl argues that clinical and experimental observations indicate that they are separate entities which may be distinguished in the laboratory and which should be managed in radically different ways.

A retrospective clinico-pathological study comparing lichen planus pigmentosus with ashy dermatosis.

PubMed

Cheng, Hui Mei; Chuah, Sai Yee; Gan, Emily Yiping; Jhingan, Anjali; Thng, Steven Tien Guan

2018-04-10

Controversy persists as to whether lichen planus pigmentosus and ashy dermatosis are separate clinical entities. This study was conducted to examine the clinicopathological features and treatment outcome of the two conditions. A retrospective medical chart review of all patients who were diagnosed with lichen planus pigmentosus or ashy dermatosis was conducted. The information collected included the participants' age at onset, site of onset, duration of disease, presence of precipitating factors, distribution of disease, pigmentation and presence of symptoms. In patients from whom a biopsy was taken the histopathological reports were included. Altogether 26 patients with ashy dermatosis and 29 with lichen planus pigmentosus were included in the study. Compared with ashy dermatosis, lichen planus pigmentosus had a more localised distribution with a preponderance for facial involvement, compared with the truncal preponderance in ashy dermatosis. Ashy dermatosis tended to have a more stable clinical course than lichen planus pigmentosus, which was more likely to wax and wane. The utility of histopathology in differentiating between the two conditions is low. Ashy dermatosis and lichen planus pigmentosus, as defined in this study, appear to be two separate clinical entities with distinguishable clinical features and natural histories. © 2018 The Australasian College of Dermatologists.

Molecular identification of unusual Mycetoma agents isolated from patients in Venezuela.

PubMed

Rojas, Olga C; León-Cachón, Rafael B R; Moreno-Treviño, Maria; González, Gloria M

2017-02-01

Mycetoma is a chronic granulomatous, subcutaneous disease endemic in tropical and subtropical countries. It is currently a health problem in rural areas of Africa, Asia and South America. Nine cases of mycetoma were analysed in a retrospective study. All isolates were identified by morphological features. The level of species identification was reached by molecular tools. Definitive identification of fungi was performed using sequence analysis of the ITS of the ribosomal DNA region and the ribosomal large-subunit D1/D2. Identification of actinomycetes was accomplished by the 16S rRNA gene sequence. Six unusual clinical isolates were identified: Aspergillus ustus, Cyphellophora oxyspora, Exophiala oligosperma, Madurella pseudomycetomatis, Nocardia farcinica and Nocardia wallacei. The prevalence of mycetoma in Venezuela remains unknown. This study represents the first report in the literature of mycetoma caused by unusual pathogens identified by molecular techniques. © 2016 Blackwell Verlag GmbH.

The SAPHO syndrome: a clinical and imaging study.

PubMed

Sallés, Meritxell; Olivé, Alejandro; Perez-Andres, Ricard; Holgado, Susana; Mateo, Lourdes; Riera, Elena; Tena, Xavier

2011-02-01

The purpose of this study is to describe the clinical and radiological manifestations of patients with the synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome. Retrospective study (1984-2007) was performed in a single center. All patients with the SAPHO syndrome were included. Fifty-two patients were included: 26 male, mean age at diagnosis is 42±12 years. Ostearticular involvement was present before cutaneous involvement in 59.6% of patients and concomitantly in 23.5%. Anterior chest pain was the commonest clinical manifestation, it was present in 38 patients (73%), followed by peripheral arthritis in 17 patients (32%), and sacroliliac pain in 14 patients (26.9%). Cutaneous involvement was present in 33 patients (63.5%). HLA B27 antigen was present in eight patients (17.7%). Bone scintigraphy showed an increased uptake in 42 patients (93.3%). The location of the uptake was mainly in sternoclavicular and manubriosternal joints. CT scan was performed in all "hot joints" showing sclerosis, erosions, hyperostosis, and soft tissue involvement. Refractory patients were treated mainly with pamidronate. Although SAPHO syndrome is an entity that share features that fit into a variety of established disease categories, the present study has a homogenous clinical and radiological pattern that gives support to believe that the SAPHO syndrome is an isolated clinical entity.

Progress in the development of animal models of acute kidney injury and its impact on drug discovery.

PubMed

Sanz, Ana B; Sanchez-Niño, María Dolores; Martín-Cleary, Catalina; Ortiz, Alberto; Ramos, Adrián M

2013-07-01

Acute kidney injury (AKI) is a clinical syndrome characterized by the acute loss of kidney function. AKI is increasingly frequent and is associated with impaired survival and chronic kidney disease progression. Experimental AKI models have contributed to a better understanding of pathophysiological mechanisms but they have not yet resulted in routine clinical application of novel therapeutic approaches. The authors present the advances in experimental AKI models over the last decade. Furthermore, the authors review their current and expected impact on novel drug discovery. New AKI models have been developed in rodents and non-rodents. Non-rodents allow the evaluation of specific aspects of AKI in both bigger animals and simpler organisms such as drosophila and zebrafish. New rodent models have recently reproduced described clinical entities, such as aristolochic and warfarin nephropathies, and have also provided better models for old entities such as thrombotic microangiopathy-induced AKI. Several therapies identified in animal models are now undergoing clinical trials in human AKI, including p53 RNAi and bone-marrow derived mesenchymal stem cells. It is conceivable that further refinement of animal models in combination with ongoing trials and novel trials based on already identified potential targets will eventually yield effective therapies for clinical AKI.

3M syndrome: a report of four cases in two families.

PubMed

Güven, Ayla; Cebeci, Ayşe Nurcan

2011-01-01

3M syndrome is a rare entity characterized by severe growth retardation, dysmorphic features and skeletal changes as its major components. It is differentiated from other types of dwarfism by its clinical features and by the typical slender long bones and foreshortened vertebral bodies that can be visualized radiographically. 3M syndrome has an autosomal recessive mode of inheritance. An early diagnosis is important for genetic counseling. In this report, we present four children (3 males, 1 female) from two families who were aged between 4(11/12) and 10(11/12) years and had clinical findings of 3M syndrome. One of these patients had received growth hormone (GH) treatment which was discontinued due to an inadequate height gain. Physicians should be aware of this entity in the differential diagnosis of children with severe short stature and mild skeletal changes.

Metachronous multifocal myxoid liposarcoma involving the gastrointestinal tract. Management and literature review.

PubMed

Salemis, Nikolaos S; Seretis, Charalambos; Seretis, Fotios; Christofyllakis, Charalambos; Karalis, Georgios

2014-01-01

Multifocal soft tissue sarcoma is a rare clinical entity occurring in 1% of patients with extremity soft tissue sarcoma and in 4.5% of patients with liposarcoma. Multifocal disease may arise either synchronously or metachronously and has been associated with poor prognosis. Herein, we have described a rare case of metachronous multifocal myxoid liposarcoma involving the gastrointestinal tract that developed 14 months after the resection of a myxoid buttock liposarcoma. Diagnostic evaluation and management of the patient are discussed along with a review of the relevant literature. We conclude that multifocal myxoid liposarcoma is a rare clinical entity that usually represents metastatic disease with poor prognosis. A thorough imaging and careful physical examination are essential in the preoperative evaluation and postoperative follow-up of patients with myxoid extremity liposarcomas, as these tumors are known to have a tendency to spread toward extrapulmonary sites, frequently without pulmonary metastases.

Metachronous multifocal myxoid liposarcoma involving the gastrointestinal tract. Management and literature review

PubMed Central

Salemis, Nikolaos S.; Seretis, Charalambos; Seretis, Fotios; Christofyllakis, Charalambos; Karalis, Georgios

2014-01-01

Multifocal soft tissue sarcoma is a rare clinical entity occurring in 1% of patients with extremity soft tissue sarcoma and in 4.5% of patients with liposarcoma. Multifocal disease may arise either synchronously or metachronously and has been associated with poor prognosis. Herein, we have described a rare case of metachronous multifocal myxoid liposarcoma involving the gastrointestinal tract that developed 14 months after the resection of a myxoid buttock liposarcoma. Diagnostic evaluation and management of the patient are discussed along with a review of the relevant literature. We conclude that multifocal myxoid liposarcoma is a rare clinical entity that usually represents metastatic disease with poor prognosis. A thorough imaging and careful physical examination are essential in the preoperative evaluation and postoperative follow-up of patients with myxoid extremity liposarcomas, as these tumors are known to have a tendency to spread toward extrapulmonary sites, frequently without pulmonary metastases. PMID:24678225

Palisaded Neutrophilic and Granulomatous Dermatitis/Interstitial Granulomatous Dermatitis Overlap: A Striking Clinical and Histologic Presentation With "Burning Rope Sign" and Subsequent Mirror-Image Contralateral Recurrence.

PubMed

Kern, Malan; Shiver, Mallory B; Addis, Kristen M; Gardner, Jerad M

2017-09-01

Palisaded neutrophilic and granulomatous dermatitis and interstitial granulomatous dermatitis are uncommon granulomatous dermatoses that often arise in association with rheumatoid arthritis. These 2 entities have overlapping features and may exist on a spectrum. We report an intriguing case of a 53-year-old man with advanced rheumatoid arthritis who presented with a large indurated painful truncal plaque with a palpable cord in addition to a papulonodular eruption on his dorsal hands. Furthermore, our patient had a recurrence in a near-identical mirror-image pattern on the contralateral trunk. The constellation of clinical and histopathological findings in our patient further suggests that palisaded neutrophilic and granulomatous dermatitis and interstitial granulomatous dermatitis exist as overlapping disease entities on a continuum. In addition, we propose that recurrence of skin findings may be indicative of the severity of the underlying systemic disease process.

Nontraumatic head and neck injuries: a clinical approach. Part 2.

PubMed

Brea Álvarez, B; Esteban García, L; Tuñón Gómez, M; Cepeda Ibarra, Y

Nontraumatic emergencies of the head and neck represent a challenge in the field of neuroradiology for two reasons. As explained in the first part of this update, these entities affect an area where the thorax joins the cranial cavity and can thus compromise both structures; second, they are uncommon, so they are not well known. Maintaining the same approach as in the first part, focusing on the clinical presentations in the emergency department rather than on the anatomic regions affected, we will study the entities that present with two patterns: those that present with a combination of cervical numbness, dysphagia, and dyspnea and those that present with acute sensory deficits. In the latter group, we will specifically focus on visual deficits, because this is the most common symptom that calls for urgent imaging studies. Copyright © 2017 SERAM. Publicado por Elsevier España, S.L.U. All rights reserved.

[Pneumomediastinum, giant subcutaneous emphysema and pneumoperitoneum revealed by jaw pain. Uncommon physiopathology of pneumomediastinum].

PubMed

Le Loch, J-B; Freymond, N; Khettab, F; Pacheco, Y; Devouassoux, G

2008-02-01

Spontaneous pneumomediastinum is a rare entity, predominantly described in young man. The association of acute dyspnea, chest pains and subcutaneous emphysema is usually reported. We report the observation of a pneumomediastinum, fortuitously discovered in front of an isolated giant subcutaneous emphysema in a 59 year old man. The recent clinical history was only marked by the presence of intense and acute dental pains. Associated with a pneumoperitoneum, a retro-pneumoperitoneum, this clinical presentation is uncommon and differs from previous published case reports. Despite a complete evaluation of classical risk factors, its origin remains uncertain. However, the presence of huge dental injuries led to consider such local origin, facilitating air diffusion. This case report allows to reconsider spontaneous pneumomediastinum entity and to propose additional physiopathological mechanisms. This original description underlines the interest to systematically perform dental examination in the presence of unexplained pneumomediastinum.

Clinical features of hidradenitis suppurativa and Crohn disease: what do these two entities have in common?

PubMed

Vilarrasa Rull, E; González Lama, Y

2016-09-01

Hidradenitis suppurativa (HS) and Crohn disease (CD) are chronic, recurrent inflammatory diseases. They share certain clinical characteristics and flares are common in both. Both entities are usually diagnosed between the second and third decades of life and share risk factors such as smoking and overweight. In CD, as in HS, acute untreated episodes of inflammation can lead to sequels such as abscesses, fistulas and stenosis. Consequently, early management is of the utmost importance. Some patients have both diseases. The estimated prevalence of SH in CD patients is 12.4%-17.9%, while the prevalence of CD in HS patients is around 3%. The presence of HS in patients with inflammatory bowel disease (IBD) is associated with an earlier onset of IBD and with more frequent need for anti-TNF-alpha therapy and surgical resection. Copyright © 2016 Elsevier España, S.L.U. y AEDV. All rights reserved.

3M Syndrome: A Report of Four Cases in Two Families

PubMed Central

Cebeci, Ayşe Nurcan

2011-01-01

3M syndrome is a rare entity characterized by severe growth retardation, dysmorphic features and skeletal changes as its major components. It is differentiated from other types of dwarfism by its clinical features and by the typical slender long bones and foreshortened vertebral bodies that can be visualized radiographically. 3M syndrome has an autosomal recessive mode of inheritance. An early diagnosis is important for genetic counseling. In this report, we present four children (3 males, 1 female) from two families who were aged between 411/12 and 1011/12 years and had clinical findings of 3M syndrome. One of these patients had received growth hormone (GH) treatment which was discontinued due to an inadequate height gain. Physicians should be aware of this entity in the differential diagnosis of children with severe short stature and mild skeletal changes. Conflict of interest:None declared. PMID:21911330

An unusual presentation of papillary fibroelastoma originating from right ventricular outflow tract.

PubMed

Erdogan, Mehmet; Guney, Murat Can; Ayhan, Hüseyin; Kasapkara, Hacı Ahmet; Uğuz, Emrah; Durmaz, Tahir; Keleş, Telat; Bozkurt, Engin

2017-03-01

Papillary fibroelastomas (PFEs) are primary cardiac tumors with a benign and avascular nature. Majority of the PFEs are originated from the valvular endocardium, while the most common site is aortic valve. In this case, we present a patient with multiple PFEs originating from the right ventricular outflow tract who was admitted to our clinic with exertional dyspnea. As far as we know, this is the first case of this unusual presentation of multiple PFEs and also had a history of breast cancer and permanent pacemaker reported in the literature. © 2017, Wiley Periodicals, Inc.

Catheter-related bacteraemia and infective endocarditis caused by Kocuria species.

PubMed

Lai, C C; Wang, J Y; Lin, S H; Tan, C K; Wang, C Y; Liao, C H; Chou, C H; Huang, Y T; Lin, H I; Hsueh, P R

2011-02-01

We describe five patients with positive blood culture for Kocuria species. Three patients had catheter-related bacteraemia and one had infective endocarditis caused by Kocuria kristinae, and one had a K. marina isolate, which was considered to be a contaminant. Identification of the isolates was further confirmed by 16S rRNA gene sequence analysis. In conclusion, Kocuria species are an unusual cause of infection in immunocompromised patients. Accurate identification with molecular methods is imperative for the diagnosis of these unusual pathogens. © 2010 The Authors. Journal Compilation © 2010 European Society of Clinical Microbiology and Infectious Diseases.

Cardiac Paraganglioma Arising From the Right Atrioventricular Groove in a Paraganglioma-Pheochromocytoma Family Syndrome With Evidence of SDHB Gene Mutation: An Unusual Presentation.

PubMed

Del Forno, Benedetto; Zingaro, Carlo; Di Palma, Enza; Capestro, Filippo; Rescigno, Giuseppe; Torracca, Lucia

2016-09-01

Primary cardiac paragangliomas are extremely rare. Recently this neoplasm has been associated with a familiar syndrome as a result of mutation of genes that encode proteins in the mitochondrial complex II. We report a case of a 46-year-old woman having cases of vertebral paraganglioma in her family showing an unusual anatomic and clinical presentation of cardiac paraganglioma and expressing a genetic mutation never associated before with cardiac localization of this neoplasm. Copyright © 2016 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

Central diabetes insipidus: an unusual complication in a child with juvenile myelomonocytic leukemia and monosomy 7.

PubMed

Surapolchai, Pacharapan; Ha, Shau-Yin; Chan, Godfrey Chi-Fung; Lukito, Johannes B; Wan, Thomas S K; So, Chi-Chiu; Chiang, Alan Kwok-Shing

2013-03-01

Central diabetes insipidus (DI) is well-documented as a presenting feature of myelodysplastic syndrome and acute myeloid leukemia in adults. However, DI is unusual in pediatric patients with myeloid malignancies. We report here this rare complication in a child with neurofibromatosis type 1 who developed juvenile myelomonocytic leukemia and monosomy 7. Our case and previously reported cases of DI arising as a complication in myeloid malignancies demonstrate a close association with deletion of chromosome 7. The clinical characteristics and outcomes of these uncommon cases in children are reviewed and discussed.

Unusual fan shaped ossification in a female fetus with radiological features of boomerang dysplasia

PubMed Central

Odent, S.; Loget, P.; Le Marec, B.; Delezoide, A.; Maroteaux, P.

1999-01-01

We report on a female fetus of 24 weeks whose clinical and radiological findings were compatible with boomerang dysplasia (BD). However, histopathology was unusual with a lateral fan shaped diaphyseal ossification. This has never been described either in typical atelosteogenesis I (AT-I) or in BD. The purpose of this report is to find out if this condition is a separate lethal bone dysplasia or another histological feature of the nosological group of AT-I and BD. 


Keywords: boomerang dysplasia; atelosteogenesis; lethal chondrodysplasia; lethal dwarfism PMID:10227404

Early acute myeloblastic leukemia treatment for childhood myelodysplastic syndrome with t(3;5) (NPM/MLF1).

PubMed

Sevilla, Julián; Fernández-Plaza, Sandra; Lassaletta, Alvaro; González-Vicent, Marta; Contra, Trinidad; Madero, Luis

2007-12-01

Myelodysplastic syndromes (MDS) in childhood are rare hematologic diseases. MDS with t(3;5) (NPM/MLF1) is an unusual subtype without a well-defined clinical and prognostic pattern. A poor outcome has been reported, suggesting that hematopoietic transplantation is the only treatment option. Here in we described a 2-year-old child diagnosed with the disease, without a suitable hematopoietic donor, treated early in the disease with chemotherapy. He is alive and well 4 years after the end of treatment. This unusual MDS needs further studies to better understand the disease.

Clinical benchmarking for the office practitioner enabled by the online health record

PubMed Central

Ricciardi, TN; Masarie, FE; Landholt, T; Middleton, B

2000-01-01

Payer organizations, regulatory entities, and delivery networks are placing increasing pressure on physicians to report aggregate information about their patients and practice of medicine. Historically, clinicians have been ill-equipped to respond to these pressures when their practices have relied upon payer records for clinical information management. Key Industry Drivers: Physicians need specific information from their practices for the purposes of contract management, preventive care, office productivity, and utilization reviews. Value Statement: Clinical data captured at the point of care can support reporting requirements, and supplement or replace laboriously-collected data derived from billing and other administrative systems. Information from the Online Health Record can empower the individual physician to assess what is going on in their practice of medicine, as opposed to being "profiled" by an external entity. We created a secure web-based system that provides access to a clinical data mart, to allow online benchmarking for the individual or office practitioner. Providers used a web-enabled documentation system to document the clinical facts of the encounter. A nightly set of routines extracts data from the online chart into the clinical data mart built in a relational database. The system uses a clinical vocabulary server to map provider-entered strings to normalized clinical concepts. The system loads chart data into a dimensional data model, to simplify data representation and ensure fast query performance. Providers can access their own profiles from a secure web browser. PMID:11080030

Rabbitfish ("aras"): an unusual source of ciguatera poisoning.

PubMed

Raikhlin-Eisenkraft, Bianca; Bentur, Yedidia

2002-01-01

Ciguatera poisoning is the commonest fish-borne seafood intoxication. It is endemic to warm water tropical areas and is caused by consumption of bottom-dwelling shore reef fish, mostly during spring and summer. The causative agent, ciguatoxin, is a heat-stable ester complex that becomes concentrated in fish feeding on toxic dinoflagellates. The common clinical manifestations are a combination of gastrointestinal and neurologic symptoms. Severe poisoning may be associated with seizures and respiratory paralysis. To describe a series of patients who sustained ciguatera poisoning in an uncommon region and from an unexpected source. Two families complained of a sensation of "electrical currents," tremors, muscle cramps, nightmares, hallucinations, agitation, anxiety and nausea of varying severity several hours after consuming rabbitfish ("aras"). These symptoms lasted between 12 and 30 hours and resolved completely. The temporal relationship to a summer fish meal, the typical clinical manifestations along with the known feeding pattern of the rabbitfish suggested ciguatera poisoning. The Eastern Mediterranean basin is an unusual region and the rabbitfish an unusual source for ciguatera poisoning. There are no readily available and reliable means for detecting ciguatoxin in humans. A high index of suspicion is needed for diagnosis and a thorough differential diagnosis is essential to eliminate other poisonings, decompression sickness and encephalitis. Supportive therapy is the mainstay of treatment.

Immunotactoid Glomerulopathy and Cryoglobulinemic Nephropathy: Two Entities with Many Similarities. A Unified Conceptual Approach.

PubMed

Herrera, Guillermo A; Ojemakinde, Kunle O; Turbat-Herrera, Elba A; Gu, Xin; Zeng, Xu; Iskandar, Samy S

2015-01-01

Immunotactoid glomerulopathy is a rare disorder that has been characterized at the ultrastructural level. Due to its rarity, there are few comprehensive studies relating to this disorder. Electron microscopy essentially characterizes this disease. The glomerular electron dense deposits which are typical of this condition consist of aggregates of highly organized microtubular structures of various diameters, but generally measuring 30-50 nm in width with a propensity to dispose themselves in parallel bundles intersecting in different planes. This study compares a large series of patients with cryoglobulinemic nephropathy with a series of patients with immunotactoid glomerulopathy to address whether there may be similarities that warrant considering these two entities part of a spectrum. This study reviews the clinicopathologic features of both entities and emphasizes ultrastructural findings that characterize them. Significant immunomorphologic overlap was found when these two disorders were compared in this study. There were also striking similarities in clinical presentation/behavior, laboratory findings and prognosis. Proteomic analysis has also demonstrated similar spectra for both entities. We postulate that immunotactoid glomerulopathy and cryoglobulinemic nephropathy are part of the spectrum of renal manifestations in patients with circulating cryoglobulins and renal disease.

Vulvar metastatic Crohn disease: clinical, histopathological and ultrasonographic findings.

PubMed

Pousa-Martínez, María; Alfageme, Fernando; González de Domingo, María Antonia; Suárez-Masa, Dolores; Calvo, Marta; Roustán, Gastón

2017-11-15

Metastatic Crohn disease (MCD) is an unusual type of cutaneous Crohn disease characterized by skin lesions separated from the lesions of the gastrointestinal tract. The diagnosis of MCD is essentially histological,showing noncaseating granulomas in the dermis and subcutaneous fat tissue. We report a case of MCD with vulvar involvement and clinical, histopathological, and ultrasonographic findings of this disease.

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

PubMed

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

2012-09-01

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

Clinical and oral findings in an Afro-Brazilian family with Gorlin-Goltz syndrome: case series and literature review.

PubMed

da Silva Pierro, Viviane Santos; Marins, Marcello Roter; Borges de Oliveira, Renata Cabral; Cortezzi, Wladimir; Janini, Maria Elisa; Maia, Lucianne Cople

2015-01-01

Gorlin-Goltz syndrome (GGS) seems to be unusual in black persons. The authors present an Afro-Brazilian family case report of GGS. The main complaint of the index case was a painless swelling of the left mandible, which was diagnosed as an odontogenic keratocyst. Further classical features of the Syndrome were present in this patient. Other two family members were diagnosed as cases of GGS and one of them presented 11 clinical findings characteristic of the syndrome. From the three cases reported, two of them presented five major diagnostic criteria for the GGS, and the diagnosis was only made because of an oral complaint. This case series emphasizes the importance of carefully examining the patient and close relatives for signs of GGS, even if they belong to an ethnic group in which this diagnosis is unusual. © 2014 Special Care Dentistry Association and Wiley Periodicals, Inc.

Hitch-hiker taken for a ride: an unusual cause of myocarditis, septic shock and adult respiratory distress syndrome

PubMed Central

Kushawaha, Anurag; Brown, Mark; Martin, Ismael; Evenhuis, Walther

2013-01-01

Rocky Mountain spotted fever (RMSF) is a serious tick-borne illness caused by Rickettsia rickettsii that is endemic in southeastern USA. Although RMSF has been described as causing the classic clinical triad of fever, headache and a characteristic rash, serious and potentially life-threatening manifestations can occur. Cardiopulmonary involvement, although infrequent, may occur with severe cases of RMSF. Rickettsial myocarditis is an uncommon occurrence. We present a case of a previously healthy 26-year-old man, who was hitch-hiking across the southeastern USA, with serologically proven RMSF causing adult respiratory distress syndrome, septic shock and myocarditis manifested by elevated cardiac enzymes and decrease in myocardial function. After treatment with antibiotics, the myocarditis resolved. Therefore, although unusual, clinicians should be aware of possible myocardial involvement in patients with appropriate tick-exposure histories or other clinical signs of RMSF. PMID:23314875

Meningitis and Riga-Fede disease: an unusual condition.

PubMed

Picciotti, M; DiVece, L; Viviano, M; Giorgio, A; Lorenzini, G

2014-07-01

Riga-Fede disease (RFD) is a benign inflammatory disorder characterised by the appearance of a traumatic ulceration of the oral mucosa. Early detection of RFD and its adequate management are very important. The authors present a an unusual case of RFD with concomitant Staphylococcus aureus meningitis. A 36-day-old female infant was referred to the emergency room of the Hospital of the University of Siena for a 4-day history of high fever. Clinical evaluation revealed the presence of lingual ulceration caused by natal tooth. Few hours later, clinical manifestations were overshadowed by neurological symptoms. The cerebrospinal fluid examination showed the presence of Staphylococcus aureus. The wound healing after extraction of the tooth and the antibiotic therapy have been important for the resolution of this case. A conservative approach is preferable for natal teeth, but in this case the extraction was suggested since a more radical treatment was more likely to avoid major complications.

Clinical and Neuroradiological Spectrum of Metronidazole Induced Encephalopathy: Our Experience and the Review of Literature

PubMed Central

Panwar, Ajay; Pandit, Alak; Das, Susanta Kumar; Joshi, Bhushan

2016-01-01

Metronidazole is an antimicrobial agent mainly used in the treatment of several protozoal and anaerobic infections, additionally, is often used in hepatic encephalopathy and Crohn disease. Apart from peripheral neuropathy, metronidazole can also cause symptoms of central nervous system dysfunction like ataxic gait, dysarthria, seizures, and encephalopathy which may result from both short term and chronic use of this drug and is collectively termed as “metronidazole induced encephalopathy”(MIE). Neuroimaging forms the backbone in clinching the diagnosis of this uncommon entity, especially in cases where there is high index of suspicion of intoxication. Although typical sites of involvement include cerebellum, brain stem and corpus callosum, however, lesions of other sites have also been reported. Once diagnosed, resolution of findings on Magnetic Resonance Imaging (MRI) of the Brain along with clinical improvement remains the mainstay of monitoring. Here we review the key clinical features and MRI findings of MIE as reported in medical literature. We also analyze implication of use of this drug in special situations like hepatic encephalopathy and brain abscess and discuss our experience regarding this entity. PMID:27504340

Clinical, histopathologic, and genetic features of pediatric primary myelofibrosis--an entity different from adults.

PubMed

DeLario, Melissa R; Sheehan, Andrea M; Ataya, Ramona; Bertuch, Alison A; Vega, Carlos; Webb, C Renee; Lopez-Terrada, Dolores; Venkateswaran, Lakshmi

2012-05-01

Primary myelofibrosis is a chronic myeloproliferative neoplasm characterized by cytopenias, leukoerythroblastosis, extramedullary hematopoiesis, hepatosplenomegaly and bone marrow fibrosis. Primary myelofibrosis is a rare disorder in adults; children are even less commonly affected by this entity, with the largest pediatric case series reporting on three patients. Most literature suggests spontaneous resolution of myelofibrosis without long term complications in the majority of affected children. We describe the clinical, pathologic, and molecular characteristics and outcomes of nineteen children with primary myelofibrosis treated in our center from 1984 to 2011. Most patients had cytopenia significant enough to require supportive therapy. No child developed malignant transformation and only five of the 19 children (26%) had spontaneous resolution of disease. Sequence analyses for JAK2V617F and MPLW515L mutations were performed on bone marrow samples from 17 and six patients, respectively, and the results were negative. In conclusion, analysis of this large series of pediatric patients with primary myelofibrosis demonstrates distinct clinical, hematologic, bone marrow, and molecular features from adult patients. Copyright © 2012 Wiley Periodicals, Inc.

Simultaneous bilateral distal biceps tendon ruptures repaired using an endobutton technique: a case report.

PubMed

Dacambra, Mark P; Walker, Richard Ea; Hildebrand, Kevin A

2013-08-23

The simultaneous rupture of both distal biceps tendons is a rare clinical entity that is difficult to treat and can have poor outcomes. A variety of treatment and rehabilitation options exist and have been reported for single sided and staged bilateral repairs, but none have described an approach for acute bilateral ruptures. Repairing distal biceps tendon ruptures using a single anterior incision and a cortical suspensory button technique has become increasingly popular in recent years. We present a report of our surgical approach using an endobutton technique and rehabilitation algorithm for this unusual injury pattern. A 43-year-old Caucasian man presented with acute onset bilateral elbow pain while lifting a large sheet of drywall off the ground. He initially felt a 'pop' on the right and almost immediately felt another on the left after having to quickly shift the weight. He was unable to continue working and sought medical attention. His pain was predominantly in his bilateral antecubital fossae and he had significant swelling and ecchymoses. His clinical examination demonstrated no palpable tendon, a retracted biceps muscle belly, and clear supination weakness. Magnetic resonance imaging was performed and showed bilateral distal biceps tendon ruptures with retraction on both sides. After discussion with our patient, we decided that both sides would be repaired using a single anterior incision with endobutton fixation, first his right followed by his left six weeks later. Overall, our patient did very well and had returned to full manual work by our last follow-up at 30 months. Although he was never able to return to competitive recreational hockey and was left with mild lateral antebrachial cutaneous nerve dysesthesias on his right, he felt he was at 85% of his premorbid level of function. We describe what we believe to be, to the best of our knowledge, the first case of simultaneous bilateral distal biceps tendon ruptures successfully treated with a single-incision endobutton technique, which represents a valid option in managing this difficult problem.

[Lessons from Guam ALS/PDC study].

PubMed

Asao, Hirano

2007-11-01

An extraordinarily high incidence of amyotrophic lateral sclerosis (ALS) and parkinsonism-dementia complex (PDC) affecting the native population was discovered on the island of Guam a half century ago. Guam ALS is identical to classic ALS clinically and pathologically while PDC is marked by progressive parkinsonism and dementia. The unusual histological finding in these fetal neurodegenerative diseases is the presence of numerous neurofibrillary tangles in a selective topographic distribution unassociated with senile plaques. There have been remarkable advances in field of age-associated neurodegenerative disease after our initial study of Guam cases. Four noteworthy topics are presented in this communication. 1) Clinically, the coexistence of parkinsonism and dementia was frequently recognized in Parkinson disease and Alzheimer disease. Some other new disease entities characterized by coexistence of parkinsonism and dementia have been reported. These include progressive supranuclear palsy, frontotemporal dementia and parkinsonism linked to chromosome 17. 2) Neuropathologically, abundant neurofibrillary tangles unassociated with senile plaques were demonstrated in many diseases such as aftermath of boxing and tangle-only dementia. Furthermore, tau-positive structures were recognized not only in neurons but in glial cells in certain diseases. Tauopathy is one of the current hot research subjects. 3) Familial aggregation of Guam ALS patients provoked investigation of familial ALS elsewhere. Familial motor neuron disease with SOD1 mutation is the target of worldwide intense investigation at the present time. SOD1 gene mutation is, however, not found in Guam ALS. 4) The most striking findings of the Guam study is the gradual decline in the incidence of ALS on Guam during a quarter century and virtual disappearance of new patients. This may be linked to a remarkable change in environment and life style of the Chamorro population. The etiology of ALS is still unknown and no new treatment is available. Guam ALS/PDC is certainly one of the most mysterious riddles among age-associated neurodegenerative diseases during the last half a century.

Post traumatic inferior vena cava thrombosis: A case report and review of literature.

PubMed

Chakroun, Amine; Nakhli, Mohamed Said; Kahloul, Mohamed; Harrathi, Mohamed Amine; Naija, Walid

2017-01-01

Post traumatic inferior vena cava (IVC) thrombosis is a rare and not well described entity with nonspecific clinical presentation. It remains a therapeutic challenge in traumatic context because of haemorrhagic risk due to anticoagulation. We report a case of IVC thrombosis in an 18 year-old man who presented with liver injury following a traffic crash. The thrombosis was incidentally diagnosed on admission by computed tomography. The patient was managed conservatively without anticoagulation initially considering the increasing haemorrhagic risk. IVC filter placing was not possible because of the unusual localization of the thrombus. Unfractionated heparin was started on the third day after CT scan control showing stability of hepatic lesions with occurrence of a pulmonary embolism. The final outcome was good. The management of post traumatic IVC thrombosis is not well described. Medical approach consists in conservative management with anticoagulation which requires the absence of active bleeding lesions. Surgical treatment is commonly based on thrombectomy under extracorporeal circulation. Interventional vascular techniques have become an important alternative approach for the treatment of many vessel lesions. Their main advantages are the relative ease and speed with which they can be performed. Post traumatic IVC thrombosis is a rare condition. Its management is not well defined. Early anticoagulation should be discussed on a case-by-case basis. Other alternatives such IVC filter or surgical thrombectomy may be used when the bleeding risk is increased. The most serious risk is pulmonary embolism. Outcome can be favorable even with non surgical approaches. Copyright © 2017 The Authors. Published by Elsevier Ltd.. All rights reserved.

Combined metopic and unilateral coronal synostoses: a phenotypic conundrum.

PubMed

Sauerhammer, Tina M; Patel, Kamlesh; Oh, Albert K; Proctor, Mark R; Mulliken, John B; Rogers, Gary F

2014-03-01

Most types of craniosynostosis cause predictable changes in cranial shape. However, the phenotype of combined metopic and unilateral coronal synostoses is anomalous. The purpose of this observational study was to better clarify the clinical and radiographic features of this rare entity. A retrospective review of a craniofacial database was performed. Patients with combined metopic and unilateral coronal synostoses were included in this study. Data collected included demographic information, physical and radiographic findings, genetic evaluation, treatment, and operative outcomes. Of 687 patients treated between 1989 and 2010, only 3 patients had combined metopic and unilateral coronal synostoses. All patients were diagnosed through computed tomography on the first day of life. Phenotypic features included the following: (1) narrowed forehead with a prominent midline ridge, (2) severe bilateral brow retrusion with an acute indentation on the side of the patient coronal suture, (3) facial and nasal angulation similar to isolated unilateral coronal synostosis, and (4) anterior displacement of the ear on the fused side. In addition, the cranial vertex was deviated toward the side of the open coronal suture. Two patients had a head circumference below the 25th percentile; 2 of the 3 had a TWIST gene mutation consistent with Saethre-Chotzen syndrome. One patient was managed through fronto-orbital advancement and required a revision. The other 2 patients had early endoscopic release, followed by postoperative helmet therapy; one improved but still required open cranial remodeling. The other has near-normal phenotype, and no further surgery is planned. Combined metopic and unilateral coronal synostoses present a rare and unusual phenotype. Although early intervention improves the deformity, revisional procedures are usually required.

Recurrent neural networks with specialized word embeddings for health-domain named-entity recognition.

PubMed

Jauregi Unanue, Iñigo; Zare Borzeshi, Ehsan; Piccardi, Massimo

2017-12-01

Previous state-of-the-art systems on Drug Name Recognition (DNR) and Clinical Concept Extraction (CCE) have focused on a combination of text "feature engineering" and conventional machine learning algorithms such as conditional random fields and support vector machines. However, developing good features is inherently heavily time-consuming. Conversely, more modern machine learning approaches such as recurrent neural networks (RNNs) have proved capable of automatically learning effective features from either random assignments or automated word "embeddings". (i) To create a highly accurate DNR and CCE system that avoids conventional, time-consuming feature engineering. (ii) To create richer, more specialized word embeddings by using health domain datasets such as MIMIC-III. (iii) To evaluate our systems over three contemporary datasets. Two deep learning methods, namely the Bidirectional LSTM and the Bidirectional LSTM-CRF, are evaluated. A CRF model is set as the baseline to compare the deep learning systems to a traditional machine learning approach. The same features are used for all the models. We have obtained the best results with the Bidirectional LSTM-CRF model, which has outperformed all previously proposed systems. The specialized embeddings have helped to cover unusual words in DrugBank and MedLine, but not in the i2b2/VA dataset. We present a state-of-the-art system for DNR and CCE. Automated word embeddings has allowed us to avoid costly feature engineering and achieve higher accuracy. Nevertheless, the embeddings need to be retrained over datasets that are adequate for the domain, in order to adequately cover the domain-specific vocabulary. Copyright © 2017 Elsevier Inc. All rights reserved.

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

PubMed

Billoo, Samina Shamim; Jamalvi, Syed Waseem

2008-05-01

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

A Distinct Malignant Epithelioid Neoplasm With GLI1 Gene Rearrangements, Frequent S100 Protein Expression, and Metastatic Potential: Expanding the Spectrum of Pathologic Entities With ACTB/MALAT1/PTCH1-GLI1 Fusions.

PubMed

Antonescu, Cristina R; Agaram, Narasimhan P; Sung, Yun-Shao; Zhang, Lei; Swanson, David; Dickson, Brendan C

2018-04-01

ACTB-GLI1 fusions have been reported as the pathognomonic genetic abnormality defining an unusual subset of actin-positive, perivascular myoid tumors, known as "pericytoma with the t(7;12) translocation." In addition, GLI1 oncogenic activation through a related MALAT1-GLI1 gene fusion has been recently reported in 2 unrelated gastric tumors, namely plexiform fibromyxoma and gastroblastoma. Triggered by unexpected targeted RNA-sequencing results detecting GLI1-related fusions in a group of malignant neoplasms with round to epithelioid morphology, and frequently strong S100 protein immunoreactivity, we investigated their clinicopathologic features in relation to other known pathologic entities sharing similar genetics. On the basis of a combined approach of targeted RNA sequencing and fluorescence in situ hybridization screening, we identified 6 cases with GLI1 gene fusions, including 4 fused to ACTB, 1 with MALAT1 and 1 with PTCH1 gene. Patients had a mean age of 36 years at diagnosis (range, 16 to 79 y) and slight female predilection all except 1 tumor originated in the soft tissue. Microscopically, the tumors had a monomorphic epithelioid phenotype arranged in a distinctive nested or cord-like architecture, separated by thin septae and delicate capillary network. All except 2 cases were strongly positive for S100 protein, whereas being negative for SOX10, SMA, and EMA. Only 1 tumor showed focal cytokeratin positivity in rare cells. Although the tumors showed some resemblance to pericytic/glomus tumors or myoepithelial tumors, the immunoprofile was not supportive of either lineage. Moreover, in contrast to the benign course of so-called pericytoma with t(7;12), 3 patients in this series developed metastatic disease to either lymph nodes or lung. In fact the only patient with lung metastases showed a novel PTCH1-GLI1 gene fusion. It remains to be determined whether these tumors represent a clinically and immunohistologically distinct subset of pericytoma, or an altogether novel soft tissue sarcoma. Our findings open new opportunities for targeted therapy, as tumors with GLI1 oncogenic activation, and subsequent PTCH1 overexpression, might be sensitive to sonic hedgehog pathway inhibitors.

Unusual Outbreak of Clinical Mastitis in Dairy Sheep Caused by Streptococcus equi subsp. zooepidemicus

PubMed Central

Las Heras, Alfonso; Vela, Ana I.; Fernández, Elena; Legaz, Emilio; Domínguez, Lucas; Fernández-Garayzábal, Jose F.

2002-01-01

This work describes an outbreak of clinical mastitis affecting 13 of 58 lactating ewes due to Streptococcus equi subsp. zooepidemicus. S. equi subsp. zooepidemicus was isolated in pure culture from all milk samples. All the clinical isolates had identical biochemical profiles and antimicrobial susceptibility patterns and also exhibited indistinguishable macrorestriction patterns by pulsed-field gel electrophoresis, indicating that all cases of mastitis were produced by a single strain. PMID:11880454

The fourth branchial complex anomaly: a rare clinical entity.

PubMed

Patel, Alpen B; Hinni, Michael L

2011-01-01

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

The Fourth Branchial Complex Anomaly: A Rare Clinical Entity

PubMed Central

Patel, Alpen B.; Hinni, Michael L.

2011-01-01

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

EPIRUS-NET: A Wireless Health Telematics Network in Greece

DTIC Science & Technology

2001-10-25

has also to be made. The system is represented of three basic layers: the database layer, the middleware and the Hospital Daily Progress Anamnesis ... Anamnesis . The Encounter entry is uniquely identified by the incremental ID, IID, attribute. Each encounter entry is associated with a clinical...the main entities of the system (Hospital, Patient, Anamnesis , Encounter, Clinical Examination, Daily Progress, Examination, Release Ticket), along

Participation of racial/ethnic groups in clinical trials and race-related labeling: a review of new molecular entities approved 1995-1999.

PubMed Central

Evelyn, B.; Toigo, T.; Banks, D.; Pohl, D.; Gray, K.; Robins, B.; Ernat, J.

2001-01-01

Few recent data are available from formal evaluations of approved new drug applications to address perceptions that racial and ethnic groups are under-represented in clinical trials of new drugs. This study reviews racial and ethnic group participation in clinical trials and race-related labeling for new molecular entities approved during a five-year period by the Food and Drug Administration's (FDA) Center for Drug Evaluation and Research (CDER). This was a retrospective review of FDA medical officers' reviews of clinical trial protocols and product labeling for 185 new molecular entities (NME's) approved by CDER between January 1,1995, and December 31, 1999. Enrollment data were obtained from the reviews and tabulated according to race/ethnicity. The approved product labeling was searched for statements related to product testing in various racial/ethnic groups. All data were compiled and analyzed using Microsoft Access. This study quantifies the participation of racial/ethnic groups in clinical trials by year and therapeutic category. Additionally, the study categorizes labeling based on the types of effects described as related to race/ethnicity. Racial and ethnic groups appear to participate in clinical trials to varying degrees. African Americans participated in trials to the greatest extent; however, their participation steadily declined from 12% in 1995 to 6% in 1999. Among trials known to be conducted only in the U.S., African-American participation is comparable to their representation in the U.S. population. In all cases, participants designated as Hispanic appear to be far below their representation in the population. Some differences in participation for all racial and ethnic groups are seen when comparisons from year-to-year or among drug classes are made. Labeling for 45% (84/185) of the products contained some statement about race, although in only 8% (15/185) were differences related to race described. Fifty percent (50%) of the effects were pharmacokinetic, 39% were efficacy, and 11% were safety. One product label recommended a change in dosage based on racial differences. Images Figure 1 Figure 2 Figure 3 Figure 4 Figure 5 Figure 7 PMID:11798060

Building a comprehensive syntactic and semantic corpus of Chinese clinical texts.

PubMed

He, Bin; Dong, Bin; Guan, Yi; Yang, Jinfeng; Jiang, Zhipeng; Yu, Qiubin; Cheng, Jianyi; Qu, Chunyan

2017-05-01

To build a comprehensive corpus covering syntactic and semantic annotations of Chinese clinical texts with corresponding annotation guidelines and methods as well as to develop tools trained on the annotated corpus, which supplies baselines for research on Chinese texts in the clinical domain. An iterative annotation method was proposed to train annotators and to develop annotation guidelines. Then, by using annotation quality assurance measures, a comprehensive corpus was built, containing annotations of part-of-speech (POS) tags, syntactic tags, entities, assertions, and relations. Inter-annotator agreement (IAA) was calculated to evaluate the annotation quality and a Chinese clinical text processing and information extraction system (CCTPIES) was developed based on our annotated corpus. The syntactic corpus consists of 138 Chinese clinical documents with 47,426 tokens and 2612 full parsing trees, while the semantic corpus includes 992 documents that annotated 39,511 entities with their assertions and 7693 relations. IAA evaluation shows that this comprehensive corpus is of good quality, and the system modules are effective. The annotated corpus makes a considerable contribution to natural language processing (NLP) research into Chinese texts in the clinical domain. However, this corpus has a number of limitations. Some additional types of clinical text should be introduced to improve corpus coverage and active learning methods should be utilized to promote annotation efficiency. In this study, several annotation guidelines and an annotation method for Chinese clinical texts were proposed, and a comprehensive corpus with its NLP modules were constructed, providing a foundation for further study of applying NLP techniques to Chinese texts in the clinical domain. Copyright © 2017. Published by Elsevier Inc.

Clinical significance of heterotopic gastric mucosal patch of the proximal esophagus

PubMed Central

Chong, Vui Heng

2013-01-01

Heterotopic gastric mucosa of the proximal esophagus (HGMPE), also referred to as “inlet patch” or “cervical inlet patch”, is a salmon colored patch that is usually located just distal to the upper esophageal sphincter. HGMPE is uncommon with endoscopic studies reporting a prevalence ranging from less than one percent to 18%. Most HGMPE are asymptomatic and are detected incidentally during endoscopy for evaluations of other gastrointestinal complaints. Most consider HGMPE as clinically irrelevant entity. The clinical significance of HGMPE is mainly acid related or neoplastic transformation. The reported prevalence of laryngopharyngeal reflux symptoms varies from less than 20% to as high as 73.1%. However, most of these symptoms are mild. Clinically significant acid related complications such as bleeding, ulcerations, structure and fistulization have been reported. Although rare, dysplastic changes and malignancies in association with HGMPE have also been reported. Associations with Barrett’s esophagus have also been reported but the findings so far have been conflicting. There are still many areas that are unknown or not well understood and these include the natural history of HGMPE, risk factors for complications, role of Helicobacter pylori infection and factors associated with malignant transformations. Follow-up may need to be considered for patients with complications of HGMPE and surveillance if biopsies show intestinal metaplasia or dysplastic changes. Despite the overall low incidence of clinically relevant manifestations reported in the literature, HGMPE is a clinically significant entity but further researches are required to better understand its clinical significance. PMID:23372354

Laparoscopic appendectomy

NASA Astrophysics Data System (ADS)

Richards, Kent F.; Christensen, Brent J.

1991-07-01

The accurate and timely diagnosis of acute appendicitis remains a difficult clinical dilemma. Misdiagnosis rates of up to 40% are not unusual. Laparoscopic appendectomy provides a definitive diagnosis and an excellent method for routine removal of the appendix with very low morbidity and patient discomfort.

Comparative symptomatology of burnout and depression.

PubMed

Bianchi, Renzo; Boffy, Claire; Hingray, Coraline; Truchot, Didier; Laurent, Eric

2013-06-01

The link between burnout and depression remains unclear. In this study, we compared depressive symptoms in 46 burned-out workers, 46 outpatients experiencing a major depressive episode, and 453 burnout-free workers to test the distinctiveness of burnout as a clinical entity. Participants with burnout and major depressive episode reported similar, severe levels of overall depressive symptoms. The between-syndrome overlap was further verified for eight of the nine major depressive episode diagnostic criteria of the Diagnostic and Statistical Manual of Mental Disorders (4th ed., text rev.). Our findings do not support the view hypothesizing that burnout and depression are separate entities and question the nosological added value of the burnout construct.

[Nonspecific interstitial pneumonitis: a clinicopathologic entity, histologic pattern or unclassified group of heterogeneous interstitial pneumonitis?].

PubMed

Morais, António; Moura, M Conceição Souto; Cruz, M Rosa; Gomes, Isabel

2004-01-01

Nonspecific interstitial pneumonitis (NSIP) initially described by Katzenstein and Fiorelli in 1994, seems to be a distinct clinicopathologic entity among idiopathic interstitial pneumonitis (IIP). Besides different histologic features from other IIP, NSIP is characterized by a better long-term outcome, associated with a better steroids responsiveness than idiopathic pulmonar fibrosis (IPF), where usually were included. Thus, differentiating NSIP from other IIP, namely IPF is very significant, since it has important therapeutic and prognostic implications. NSIP encloses different pathologies, namely those with inflammatory predominance (cellular subtype) or fibrous predominance (fibrosing subtype). NSIP is reviewed and discussed by the authors, after two clinical cases description.

MRI findings in acute hyperammonemic encephalopathy resulting from decompensated chronic liver disease.

PubMed

Sureka, Jyoti; Jakkani, Ravi Kanth; Panwar, Sanuj

2012-06-01

Hyperammonemic encephalopathy is a type of metabolic encephalopathy with diversified etiology. Hyperammonemia is the end result of several metabolic disorders such as congenital deficiencies of urea cycle enzymes, hepatic encephalopathy, Reye's syndrome and other toxic encephalopathies. Non-specific clinical presentation poses a great challenge in early diagnosis of this entity. Irrespective of the underlying etiology, hyperammonemia causes a distinctive pattern of brain parenchymal injury. The cingulate gyrus and insular cortex are more vulnerable to this type of toxic insult. Characteristic magnetic resonance imaging findings in combination with laboratory parameters can help to differentiate this entity from other metabolic encephalopathy and thus aiding in early diagnosis and treatment.

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

PubMed

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

2016-09-01

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

Pure spinal multiple sclerosis: A possible novel entity within the multiple sclerosis disease spectrum.

PubMed

Schee, Jie Ping; Viswanathan, Shanthi

2018-05-01

We identified five female patients retrospectively with relapsing short-segment partial myelitis whose clinical and paraclinical features were suggestive of cord involvement of multiple sclerosis (MS)-type albeit not rigidly fulfilling the 2017 McDonald criteria. Notably, these patients had not developed any typical MS-like brain lesions despite repeated neuroimaging assessments over years. Comprehensive work-up for differential diagnoses of MS and other causes of transverse myelitis particularly neuromyelitis optica spectrum disorders had been consistently negative on longitudinal follow-up. Thus, we postulate a possible entity of pure spinal MS which may represent a novel forme fruste within the MS disease spectrum.

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

PubMed Central

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

2016-01-01

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

Brief Report: Acrocallosal Syndrome and Autism

ERIC Educational Resources Information Center

Steiner, Carlos Eduardo; Guerreiro, Marilisa Mantovani; Marques-de-Faria, Antonia Paula

2004-01-01

The authors describe a boy presenting with acrocallosal syndrome and autism. Clinical features included craniofacial dysmorphisms, polydactyly, and mental retardation, besides behavioral symptoms compatible with autism. Neuroimaging revealed hypoplasia of the corpus callosum and cerebellar abnormalities. The role of this entity and other…

The emergence of overweight as a disease entity: measuring up normality.

PubMed

Jutel, Annemarie

2006-11-01

As Charles Rosenberg [(2002). The tyranny of diagnosis. The Milbank Quarterly, 80, 237-260] has recently written, clinical diagnosis contributes to imposing structure on cultural reality in a manner which is not unproblematic. A social power resides in the process of naming diseases-one, which legitimises concerns, explains reality, naturalises deviance and imposes status. But clinical entities are not static, as both the concerns of society, and the technological ability of practitioners change (what Rosenberg refers to as the "iatrogenesis of nosology"), so too do the range of labels available for identifying disease. In this paper, I argue that being "overweight," once predominantly an adjectival descriptor of corpulence, a physical sign or a symptom, and even, in some cultures, a sign of wealth and status, is undergoing the transformation to disease entity. I suggest that evidence of this is present in both the frequency and the way in which the term is being used by the media, the medical establishment and the laity. I argue that this change stems from the convergence of two particular phenomena. The first is the belief in the neutrality of quantification, and the objectivity that measurement brings to qualitative description. The second is the importance attributed to normative appearance in health. I discuss some of the implications of this evolution and its impact on health practices, including the exploitation of this purported disease state for commercial benefit.

Surgical repair of an unusual type of supra-cardiac total anomalous pulmonary venous connection to the superior vena cava.

PubMed

Perri, Gianluigi; Filippelli, Sergio; Kirk, Richard; Hasan, Asif; Griselli, Massimo

2012-05-01

Anomalies of the pulmonary venous drainage vary widely in their anatomic spectrum and clinical presentation. We describe an unusual case of supra-cardiac total anomalous pulmonary venous connection (TAPVC), where the pulmonary veins drained directly in the posterior aspect of proximal right superior vena cava (SVC) through separate ostia. The veins were re-routed with a patch to the left atrium via the secundum atrial septal defect (ASD). The continuity between distal SVC and right atrium was re-established by re-implanting the SVC to the right atrial appendage (Warden Procedure). © 2012 Wiley Periodicals, Inc.

Endodontic management of an unusual foreign body in a maxillary central incisor.

PubMed

Chand, Keerthi; Joesph, Sam; Varughese, Jolly Mary; Nair, Mali G; Prasanth, Santhosh

2013-09-01

The discovery of foreign bodies in the teeth is often diagnosed accidentally. It is commonly seen in children. These foreign objects may act as a potential source of infection and may later lead to a painful condition. Detailed case history, clinical and radiographic examinations are necessary to come to a conclusion about the nature, size, and location of the foreign body, and the difficulty involved in its retrieval. This paper discusses the types of foreign objects found in and around the teeth and reports an unusual case of a stapler pin in the root canal of a tooth, its retrieval, and associated management of the involved teeth.

Penile herpes zoster: an unusual location for a common disease.

PubMed

Bjekic, Milan; Markovic, Milica; Sipetic, Sandra

2011-01-01

Herpes zoster is a common dermatological condition which affects up to 20% of the population, most frequently involving the thoracic and facial dermatomes with sacral lesions occurring rarely and only a few reported cases of penile shingles. We report two cases of unusual penile clinical presentations of varicella zoster virus infection in immunocompetent men. The patients presented with grouped clusters of vesicles and erythema on the left side of penile shaft and posterior aspect of the left thigh and buttock, involving s2-s4 dermatomes. The lesions resolved quickly upon administration of oral antiviral therapy. Penile herpes zoster should not be overlooked in patients with unilateral vesicular rash.

Lightning injury: a review.

PubMed

Ritenour, Amber E; Morton, Melinda J; McManus, John G; Barillo, David J; Cancio, Leopoldo C

2008-08-01

Lightning is an uncommon but potentially devastating cause of injury in patients presenting to burn centers. These injuries feature unusual symptoms, high mortality, and significant long-term morbidity. This paper will review the epidemiology, physics, clinical presentation, management principles, and prevention of lightning injuries.

[XYY syndrome (diplo-Y syndrome)].

PubMed

Braun-Scharm, H; Schroeder-Kurth, T M

1986-01-01

A case is reported of a 12-year-old boy with the XYY syndrome and unusual clinical symptoms. In addition, past research on the XYY syndrome and the current state of knowledge is reviewed, with special emphasis on psychopathology, psychiatry and genetic counseling.

D’Andrea’s disease (angiomegaly): a currently well-defined nosological entitys.

PubMed

Taurone, S; Spoletini, M; Di Matteo, F M; Mele, R; Tromba, L; Grippaudo, F R; Minni, A; Artico, M

2017-01-01

In 1997 D’Andrea et al. described a new nosological entity the characteristics of which consisted of lengthening, dilation and tortuosity of blood vessels, arteries or veins, less prominent, but also less circumscribed than an aneurysm. This condition does not necessarily imply specific aneurysm formation although aneurysms at multiple sites are a frequent observation. The term used by authors for angiomegaly of the venous system was venomegaly and the analogous condition of the arterial system was termed arteriomegaly. Although tortuosity and dilation of arteries and veins have been widely reported, suggesting a systemic disorder which affects the structural integrity of all vessels, most papers dealing with this intriguing condition did not describe any alterations in the components of vessel walls. In the present paper, the authors describe a well-defined condition, D’Andrea’s Disease (or DD, in this article), analyzing its salient morphological and clinical features and clarifying this pathological condition as a distinct and now well-defined nosological entity.