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Clinics and Practice
Volume 8
Issue 3
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Clinics and Practice is published by MDPI from Volume 11 Issue 1 (2021). Previous articles were published by another publisher in Open Access under a CC-BY (or CC-BY-NC-ND) licence, and they are hosted by MDPI on mdpi.com as a courtesy and upon agreement with PAGEPress.

Clin. Pract., Volume 8, Issue 3 (July 2018) – 7 articles

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318 KiB  
Case Report
SYNE1-related Autosomal Recessive Cerebellar Ataxia, Congenital Cerebellar Hypoplasia, and Cognitive Impairment
by Lauren Swan, John Cardinal and David Coman
Clin. Pract. 2018, 8(3), 1071; https://doi.org/10.4081/cp.2018.1071 - 27 Aug 2018
Cited by 10 | Viewed by 652
Abstract
The spectrin repeat-containing nuclear envelope protein 1 (SYNE1) gene encodes a family of spectrin structural proteins that are associated with anchoring the plasma membrane to the actin cytoskeleton. SYNE1-related disease is most commonly reported in autosomal recessive spinocerebellar ataxia 8, [...] Read more.
The spectrin repeat-containing nuclear envelope protein 1 (SYNE1) gene encodes a family of spectrin structural proteins that are associated with anchoring the plasma membrane to the actin cytoskeleton. SYNE1-related disease is most commonly reported in autosomal recessive spinocerebellar ataxia 8, which demonstrates variable age of onset with a median of 30 years of age. However pathogenic mutations in SYNE1 are also causative of arthrogryposis multiplex congenital, a severe congenital neuromuscular condition. Here in we report monozygous twins with childhood onset ataxia, cerebellar hypoplasia, dysarthria, and cognitive impairment sharing two novel heterozygous mutations in the SYNE1 gene. Our family may expand the clinical phenotype associated with SYNE1-related disease and offers possible genotype-phenotype correlations of a rare continuum of clinical disease phenotypes from neonatal to adult onset. Full article
538 KiB  
Brief Report
Aneurysm Wall Enhancement in Black Blood Mri Correlates with Aneurysm Size. Black Blood Mri Could Serve As an Objective Criterion of Aneurysm Stability in Near Future
by Athanasios K. Petridis, Andreas Filis, Elias Chasoglou, Igor Fischer, Maxine Dibué-Adjei, Richard Bostelmann, Hans Jakob Steiger, Bernd Turowski and Rebecca May
Clin. Pract. 2018, 8(3), 1089; https://doi.org/10.4081/cp.2018.1089 - 27 Jul 2018
Cited by 10 | Viewed by 728
Abstract
The increasing number of incidental intracranial aneurysms creates a dilemma of which aneurysms to treat and which to observe. Clinical scoring systems consider risk factors for aneurysm rupture however objective parameters for assessment of aneurysms stability are needed. We retrospectively analysed contrast enhancing [...] Read more.
The increasing number of incidental intracranial aneurysms creates a dilemma of which aneurysms to treat and which to observe. Clinical scoring systems consider risk factors for aneurysm rupture however objective parameters for assessment of aneurysms stability are needed. We retrospectively analysed contrast enhancing behaviour of un-ruptured aneurysms in the black blood magnetic resonance imaging (MRI) in N=71 patients with 90 aneurysms and assessed correlation between aneurysm wall contrast enhancement (AWCE) and aneurysm anatomy and clinical scoring systems. AWCE is associated with aneurysm height and height to width ratio in ICA aneurysms. AWCE is correlated to larger aneurysms in every anatomical location evaluated. However the mean size of the contrast enhancing aneurysms is significantly different between anatomical localizations indicating separate analyses for every artery. Clinical scoring systems like PHASES and UIATS correlate positively with AWCE in black blood MRI. MRI aneurysm wall contrast enhancement is a positive predictor for aneurysm instability and should be routinely assessed in follow up of incidental aneurysms. Aneurysms smaller than 7 mm with AWCE should be followed closely with focus on growth, as they may be prone to growth and rupture. Full article
503 KiB  
Case Report
Recurrent Juvenile Psammomatoid Ossifying Fibroma with Secondary Aneurysmal Bone Cyst of the Maxilla: A Case Report and Review of Literature
by Sachin C. Sarode, Gargi S. Sarode, Yashwant Ingale, Manjusha Ingale, Barnali Majumdar, Nilesh Patil and Shankargouda Patil
Clin. Pract. 2018, 8(3), 1085; https://doi.org/10.4081/cp.2018.1085 - 24 Jul 2018
Cited by 12 | Viewed by 602
Abstract
Juvenile ossifying fibroma is a benign fibro-osseous lesion commonly affecting the extra-gnathic craniofacial skeleton of the young individuals. The psammomatoid and trabecular variants are its two histopathological subtypes having distinctive clinico-pathological characteristics. Secondary aneurysmal bone cysts are frequently reported to arise in the [...] Read more.
Juvenile ossifying fibroma is a benign fibro-osseous lesion commonly affecting the extra-gnathic craniofacial skeleton of the young individuals. The psammomatoid and trabecular variants are its two histopathological subtypes having distinctive clinico-pathological characteristics. Secondary aneurysmal bone cysts are frequently reported to arise in the pre-existing fibro-osseous lesions but rarely reported in the psammmomatoid variant of the juvenile ossifying fibroma. Such hybrid lesions, especially massive in size, tend to exhibit a greater aggressive growth potential and higher recurrence rate and mandate complete surgical removal of the lesion along with a long-term follow-up. The objective of this case report was to present a rare incident of recurrent psammomatoid ossifying fibroma associated with a secondary aneurysmal bone cyst in the maxillary jaw bone of a young patient and review the similar published reports in the English literature. Full article
328 KiB  
Case Report
Bilateral Glomus Tympanicum Tumors: Human Temporalbone Study
by Hisaki Fukushima, Hirotaka Hara, Michael M. Paparella, Mohamed F. Oktay, Patricia A. Schachern and Sebahattin Cureoglu
Clin. Pract. 2018, 8(3), 1035; https://doi.org/10.4081/cp.2018.1035 - 12 Jul 2018
Cited by 1 | Viewed by 564
Abstract
To describe human temporal bones with bilateral glomus tympanicum tumors. Patient is 83-year-old black female who no pulsatile tinnitus. The histopathologic characteristics of human temporal bones after death were setting Department of Otolaryngology of University of Minnesota in USA. Histopathologic observation of temporal [...] Read more.
To describe human temporal bones with bilateral glomus tympanicum tumors. Patient is 83-year-old black female who no pulsatile tinnitus. The histopathologic characteristics of human temporal bones after death were setting Department of Otolaryngology of University of Minnesota in USA. Histopathologic observation of temporal bones showed bilateral small glomus tympanicum tumors limited to the promontory. Although there was bilateral tinnitus, there was no pulsatile tinnitus, no conductive hearing loss and both of the tympanic membranes were intact. Histopathologic observation of temporal bones after death showed bilateral glomus tympanicum tumors. To our knowledge, this is the first reported case of bilateral glomus tympanicum tumors. Full article
350 KiB  
Case Report
Not All Ankle Injuries Are Ankle Sprains—Case of an Isolated Cuboid Stress Fracture
by Sidharth Unnithan and Joe Thomas
Clin. Pract. 2018, 8(3), 1093; https://doi.org/10.4081/cp.2018.1093 - 10 Jul 2018
Cited by 5 | Viewed by 634
Abstract
A 22-year old lady, had a twisting injury to her left ankle followed by pain on prolonged weight bearing and walking. Magnetic resonance imaging with computed tomography correlation was done which showed an isolated cuboid stress fracture. Isolated cuboid stress fractures are very [...] Read more.
A 22-year old lady, had a twisting injury to her left ankle followed by pain on prolonged weight bearing and walking. Magnetic resonance imaging with computed tomography correlation was done which showed an isolated cuboid stress fracture. Isolated cuboid stress fractures are very rare and are usually misdiagnosed as ankle sprains. Full article
474 KiB  
Case Report
Elevated Troponin and Left Bundle Branch Block in the Setting of Suspected Septicemia and Demand Ischemia: To Treat or Not to Treat
by Munish Sharma, Rubinder Toor and Koroush Khalighi
Clin. Pract. 2018, 8(3), 1073; https://doi.org/10.4081/cp.2018.1073 - 10 Jul 2018
Viewed by 791
Abstract
Elevated troponin and atypical chest pain in the setting of septicemia and Type II Non ST elevation myocardial infarction is frequently encountered. These cases are not necessarily scheduled for emergent cardiac catheterization. High index of clinical suspicion and continuous in-patient cardiac monitoring with [...] Read more.
Elevated troponin and atypical chest pain in the setting of septicemia and Type II Non ST elevation myocardial infarction is frequently encountered. These cases are not necessarily scheduled for emergent cardiac catheterization. High index of clinical suspicion and continuous in-patient cardiac monitoring with serial trending of cardiac enzymes are important in such cases. Subsequent sudden development of electrocardiogram changes requires prompt investigation with emergent coronary catheterization. These types of cases may be missed especially in females who present with atypical chest pain and in patients with Left bundle branch block. Full article
366 KiB  
Case Report
A Case Report of Infective Endocarditis in a 10-Year-Old Girl
by Shafee Salloum and Christopher J. Bugnitz
Clin. Pract. 2018, 8(3), 1070; https://doi.org/10.4081/cp.2018.1070 - 10 Jul 2018
Cited by 3 | Viewed by 1015
Abstract
Infective endocarditis is a rare disease in children, and it can result in significant morbidity and mortality. The epidemiology of infective endocarditis in children has shifted in recent years with less rheumatic heart disease, more congenital heart disease survival, and increased use of [...] Read more.
Infective endocarditis is a rare disease in children, and it can result in significant morbidity and mortality. The epidemiology of infective endocarditis in children has shifted in recent years with less rheumatic heart disease, more congenital heart disease survival, and increased use of central venous catheters in children with chronic illness. Less commonly, infective endocarditis occurs in children with no preexisting cardiac disease or other known risk factors. We present a "case of" 10 year-old girl with no known cardiac disease or any other risk factors who was diagnosed with infective endocarditis according to modified Duke criteria. Blood cultures grew haemophilus parainfluenza. She had prolonged fever for 2 weeks after starting antibiotics, even though her blood culture became sterile 48 hours after treatment. We emphasize the importance of maintaining high index of suspicion for endocarditis in febrile children, even those without cardiac anomalies or other apparent risk factors. Full article
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