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Clinical Case Report

Vivek Subbiah, Oliver Holmes, Kyle Gowen, Daniel Spritz, Behrang Amini, Wei-Lien Wang, Alexa B Schrock, Funda Meric-Bernstam, Ralph Zinner, Sarina Piha-Paul, Maria Zarzour, Julia A Elvin, Rachel L Erlich, David L Stockman, Jo-Anne Vergilio, James H Suh, Philip J Stephens, Vincent Miller, Jeffrey S Ross, Siraj M Ali
Malignant gastrointestinal neuroectodermal tumor (GNET) is an aggressive rare tumor, primarily occurring in young adults with frequent local-regional metastases and recurrence after local control. The tumor is characterized by the presence of EWSR1-ATF1 or EWSR1-CREB1 and immunohistochemical positivity for S-100 protein without melanocytic marker positivity. Due to poor responses to standard sarcoma regimens, GNET has a poor prognosis, and development of effective systemic therapy is desperately needed to treat these patients...
October 21, 2016: Oncology
Amara Krag, Gregory L Holmes
Infantile spasms, one of the catastrophic epilepsies, can be a diagnostic challenge since the clinical manifestations may be subtle and may mimic benign conditions. Because of the rarity of the condition, primary care physicians and pediatricians may never see a case of infantile spasms during their career and may be unfamiliar with the seizure semiology. This is a serious issue since there is evidence that early diagnosis and treatment may improve outcome. Patients and families are increasingly using the internet more than their physician as a source of medical information about epilepsy...
October 17, 2016: Epilepsy & Behavior: E&B
M Pistacchi, M Gioulis, F Sanson, S M Marsala
INTRODUCTION: Fahr's disease is characterized by bilateral calcium deposition within the basal ganglia, cerebellar dentate nucleus and subcortical brain white matter. The main clinical manifestations are rigid or hyperkinetic syndrome, mood disorders and cognitive impairment. The correlation between neurological impairment and symmetrical basal ganglia calcification is not so frequent. Aim of the study was to report the results of neurological assessment of three sporadic cases of Fahr's disease highlighting a correlation between the clinical syndrome and neuroimaging...
2016: Folia Neuropathologica
Danielle Bloch, Nicole M Roth, Elba V Caraballo, Jorge Muñoz-Jordan, Elizabeth Hunsperger, Aidsa Rivera, Janice Pérez-Padilla, Brenda Rivera Garcia, Tyler M Sharp
BACKGROUND: Chikungunya virus (CHIKV) is transmitted by Aedes species mosquitoes and is the cause of an acute febrile illness characterized by potentially debilitating arthralgia. After emerging in the Caribbean in late 2013, the first locally-acquired case reported to public health authorities in Puerto Rico occurred in May 2014. During June-August 2014, household-based cluster investigations were conducted to identify factors associated with infection, development of disease, and case reporting...
October 2016: PLoS Neglected Tropical Diseases
Sapna M Amin, Adam Beattie, Xia Ling, Lawrence J Jennings, Joan Guitart
Mammary analog secretory carcinoma (MASC) is a recently described tumor of the salivary glands named for its morphological and molecular similarity to secretory carcinoma of the breast. Many primary carcinomas arising from the adnexal glands also share similar morphology to those arising from the breast. Brandt et al first described primary cutaneous MASC in 2009 and since then only 2 other cases have been reported. Herein, we describe a long-standing mass on the arm of an otherwise healthy 40-year-old female...
November 2016: American Journal of Dermatopathology
Leonardo Pacheco Roquero, Sandra Camelo-Piragua, Carl Schmidt
Cerebral air embolism is a recognized life-threatening complication, sometimes iatrogenic. Its timely diagnosis is essential because it can result in neurologic deficits or death. We report a case of a 58-year-old man who died from cerebral air embolism diagnosed by nonenhanced computed tomography scan of the head after a cardiac bypass surgery with Biventricular Assist Device and multiple vascular line placements. Autopsy revealed extensive subcutaneous emphysema, intravascular and perivascular air bubbles in the central nervous system and associated cerebral and cerebellar hemorrhagic infarction...
October 19, 2016: American Journal of Forensic Medicine and Pathology
Roberta Lupoli, Pasquale Ambrosino, Anna Tortora, Livia Barba, Gelsy Arianna Lupoli, Matteo Nicola Dario Di Minno
BACKGROUND: Several studies reported an increased cardiovascular (CV) risk in Cushing's syndrome (CS). We performed a meta-analysis on the impact of CS on major markers of atherosclerosis. METHODS: Studies on intima-media thickness (IMT), carotid plaques prevalence and flow-mediated dilation (FMD) in CS patients and controls were searched in the PubMed, Web of Science, Scopus and EMBASE. Differences between cases and controls were expressed as mean difference (MD) with 95% confidence intervals (95%CI) for continuous variables, and as Odds Ratio (OR) with 95%CI for dichotomous variables...
October 20, 2016: Annals of Medicine
V V Ashraf, J Prijesh, R Praveenkumar, K Saifudheen
Hyperemesis gravidarum-induced Wernicke's encephalopathy (WE) is an underestimated condition. The purpose of this study is to improve its awareness and early diagnosis. We report five cases of WE secondary to hyperemesis gravidarum. Classic triad of encephalopathy, ataxia, and ocular signs was seen in four out of five patients. Two unusual features noted in this series were papilledema in one patient and severe sensory-motor peripheral neuropathy in one patient. Magnetic resonance imaging (MRI) was abnormal in all the five patients, and high signal in medial thalamus and surrounding the aqueduct was the most common abnormality (5/5)...
October 2016: Journal of Postgraduate Medicine
Parthopratim Dutta Majumder, Avirupa Ghose, Meenakshi Chidambaram, Sudha K Ganesh, Jyotirmay Biswas
PURPOSE: To report the clinical profile of a series of necrotizing scleritis in an Indian population. METHODS: A retrospective medical record review of 27 consecutive patients with necrotizing scleritis. Patient demographics, ocular and systemic findings, treatment modalities, and visual outcome were recorded. RESULTS: There were 19 males and 8 females (31 eyes) with mean age at presentation of 49.5 years (range: 30-84 years). Underlying immunologically induced disorders was present in 37%...
October 20, 2016: Ocular Immunology and Inflammation
A M O'Kane, C P Jackson, M Mahadevan, C Barber
BACKGROUND: Pachyonychia congenita is a rare keratinising disorder, which typically presents during the first three years of life and usually affects the nails and palmoplantar surfaces. It can involve the larynx and potentially result in life-threatening airway obstruction. METHODS: A case report is presented and the findings of a literature review are reported. The review involved a PubMed search using the keywords 'pachyonychia congenita' together with 'larynx', 'laryngeal involvement', 'laryngeal obstruction', 'airway obstruction', 'hoarseness' and/or 'stridor'...
October 20, 2016: Journal of Laryngology and Otology
Katherine McIvor, Perry Moore
OBJECTIVE: Anti N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis is an autoimmune disorder that was only fully discovered recently and neuropsychological outcome data remains sparse. We present the case of BA, a 19-year-old male, which illustrates the cognitive outcome in an untreated case over a time period of over 2½ years. METHOD: We conducted three cognitive assessments, including tests of memory and executive functioning, over this time period and considered the evidence for reliable change in memory function using the Wechsler Advanced Clinical Solutions (ACS) serial assessment package...
October 20, 2016: Clinical Neuropsychologist
Antonella Giancotti, Valentina D'Ambrosio, Enrica Marchionni, Antonia Squarcella, Camilla Aliberti, Renato La Torre, Lucia Manganaro, Antonio Pizzuti
PURPOSE: Pfeiffer syndrome (PS) is an autosomal dominant disorder caused by mutations in FGFR1 and FGFR2 genes. Given its wide range of clinical expression and severity, early prenatal diagnosis is difficult and genetic counseling is desirable. We report a literature review of all prenatal diagnosis of PS and a case report, with a focused description of ultrasound findings. METHODS: After literature search, we selected 14 studies of antenatal diagnosis of PS. Prenatal ultrasound findings, outcome, maternal and obstetrical data and genetic tests were recorded and analyzed...
October 20, 2016: Journal of Maternal-fetal & Neonatal Medicine
Prerna K Chawla, Zarir F Udwadia, Rajeev Soman, Ashok A Mahashur, Rohit A Amale, Alpa J Dherai, Rohan V Lokhande, Prasad R Naik, Tester F Ashavaid
Therapeutic Drug Monitoring (TDM) is a routinely practised clinical laboratory technique which aids the clinicians with a clear clinical judgement of the drug therapy and optimize the doses if necessary. Rifampicin is the most important and potent component of first line therapy of tuberculosis (TB). Several factors like age, weight, gender, doses and formulations, gastro-intestinal disorders, ethnicity etc alter the absorption and bioavailability of rifampicin thus altering the drug levels. Low plasma levels of rifampicin may play a plausible role in slow response to therapy, treatment failure or relapse or acquired drug resistance...
August 2016: Journal of the Association of Physicians of India
Arundhati Barua, Niharika Gill
OBJECTIVE: This comparative cross sectional study was conducted in a teaching hospital in Mumbai during the monsoon of 2014.A significant number of dengue and malaria co-infection cases, along with dengue, malaria and other infective causes of acute febrile illnesses were noted. The objective of the present study was to understand the interplay of both infections. Since the first such reported case in 2005, studies and data on such cases are scarce, hence this study. AIM: To compare the clinical course, laboratory features, severity and outcome of coinfection with monoinfection of malaria and dengue...
August 2016: Journal of the Association of Physicians of India
B Lozano-Masdemont, L Gómez-Recuero-Muñoz, A Pulido-Pérez, I Molina-López, R Suárez-Fernández
Hepatitis B virus (HBV) infection in pregnant women is very rare in western countries, thus, cutaneous manifestation of HBV infection may be confused with a dermatosis specific of pregnancy. We report a 39-year-old woman who presented in her 20th week of pregnancy with a pruritic rash, which consisted of generalized erythematous plaques, some of them with a purple centre. Serology testing showed acute HBV infection, and a biopsy revealed a superficial and interstitial perivascular inflammatory infiltrate of lymphocytes and eosinophils...
October 20, 2016: Clinical and Experimental Dermatology
Antonella Caivano, Francesco La Rocca, Vittorio Simeon, Marco Girasole, Simone Dinarelli, Ilaria Laurenzana, Angelo De Stradis, Luciana De Luca, Stefania Trino, Antonio Traficante, Giovanni D'Arena, Giovanna Mansueto, Oreste Villani, Giuseppe Pietrantuono, Luca Laurenti, Luigi Del Vecchio, Pellegrino Musto
PURPOSE: The use of extracellular vesicles (EVs) from body fluids as "liquid biopsies" is emerging as a promising approach for the diagnosis, prognosis and therapeutic monitoring of cancer patients. MicroRNA-155 (miR155), a non-coding transcript of the B-cell integration cluster (BIC) gene, has been reported to play a critical role in the pathogenesis of several types of hematologic malignancies (HMs) in which high miR155 levels have been found. At yet, however, the EV miR155 level and its putative clinical relevance in sera of HM patients have not been reported...
October 19, 2016: Cellular Oncology (Dordrecht)
Riccardo Paolo Lia, Yasen Mutafchiev, Vincenzo Veneziano, Alessio Giannelli, Francesca Abramo, Mario Santoro, Maria Stefania Latrofa, Cinzia Cantacessi, Coralie Martin, Domenico Otranto, Andrea Bertuglia, Barbara Riccio
Equids can be infected by a range of skin-dwelling filarial nematodes, including four species of the genus Onchocerca. Current literature on equine onchocercosis is fragmentary and often limited to isolated case reports. The present study aimed to describe a clinical case of equine onchocercosis caused by Onchocerca boehmi (Supperer, 1953) (syn. Elaeophora boehmi) in an 8-year-old gelding Belgian show jumper from northern Italy. The horse was presented with a firm and painless mass on the proximal third of the right metacarpal region...
October 19, 2016: Parasitology Research
Michael Wolf, U Schulte, K Küpper, C Bourauel, L Keilig, S N Papageorgiou, C Dirk, C Kirschneck, N Daratsianos, A Jäger
OBJECTIVES: While permanent retention is today the method of choice to stabilize orthodontic treatment outcomes, recent studies have increasingly reported posttreatment changes in tooth position during permanent retention. We conducted this study to analyze changes in the anterior mandible, whether the changes follow an underlying movement pattern, and, aiming for a preventive strategy, whether any risk factors could be identified comparing findings with the pretreatment situations. METHODS: We included 30 patients who had worn fixed Twistflex retainers (UK 3-3) extending from canine to canine in the mandible...
October 19, 2016: Journal of Orofacial Orthopedics, Fortschritte der Kieferorthopädie
Adel S Al-Harbi, Abdullah Al-Shamrani, Baha A Al-Shawwa
Rapid-onset obesity, hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) is a rare disease, but could be fatal if not diagnosed early. It mimics many other diseases and it may take few years after the onset of rapid obesity to have the other clinical features. Therefore, any patient with rapid-onset obesity after the age of 2 years should have high index of suspicion and long term follow up. We report a case of ROHHAD in Saudi Arabia and we highlight the clinical features and the importance of early diagnosis and management...
November 2016: Saudi Medical Journal
Ahmad S Azhar
OBJECTIVES: To assess the safety and effectiveness of transthoracic echocardiography (TTE) in monitoring transcatheter closure of atrial septal defect (ASD), in comparison with conventional technique using transesophageal echocardiography (TEE).  Methods: A retrospective review of all cases of transcatheter closure of isolated ostium secundum ASDs operated from 2005 to 2015, at the Pediatric Interventional Cardiology Department, King Abdulaziz University Hospital, Jeddah, Kingdom of Saudi Arabia...
November 2016: Saudi Medical Journal
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