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Clinics and Practice

Lauren Swan, John Cardinal, David Coman
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...
July 10, 2018: Clinics and Practice
Hisaki Fukushima, Hirotaka Hara, Michael M Paparella, Mohamed F Oktay, Patricia A Schachern, Sebahattin Cureoglu
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...
July 10, 2018: Clinics and Practice
Athanasios K Petridis, Andreas Filis, Elias Chasoglou, Igor Fischer, Maxine Dibué-Adjei, Richard Bostelmann, Hans Jakob Steiger, Bernd Turowski, Rebecca May
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...
July 10, 2018: Clinics and Practice
Sidharth Unnithan, Joe Thomas
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.
July 10, 2018: Clinics and Practice
Sachin C Sarode, Gargi S Sarode, Yashwant Ingale, Manjusha Ingale, Barnali Majumdar, Nilesh Patil, Shankargouda Patil
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...
July 10, 2018: Clinics and Practice
Munish Sharma, Rubinder Toor, Koroush Khalighi
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...
July 10, 2018: Clinics and Practice
Shafee Salloum, Christopher J Bugnitz
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...
July 10, 2018: Clinics and Practice
Leila Kanafi Vahed, Afshin Arianpur, Mohammad Esmaeili
The aim of this study was to evaluate the frequency of clinical manifestations of various types of rickets in patients could be effective in therapeutic strategies. A total of eleven child patients (7 females and 4 males) were included in the present study. The patients were admitted to the hospital with hypophosphatemic rickets. In our study, the age at the time of diagnosis ranged from 1 to15 years. Mean age of first presentations at final diagnosis was determined to be 5.5 an 2 years, respectively. Five patients out of 11 patients had showed significant history of vitamin D3 resistance...
March 28, 2018: Clinics and Practice
Xiang Yang, Seidu A Richard, Jiagang Liu, Siqing Huang
Subarachnoid hemorrhage (SAH) is an uncommon complication of systemic lupus erythematosus (SLE). Solitary association of fatal spinal SAH as a complication of SLE, has not been encountered much in literature although coexisting acute cerebral and spinal SAH have been associated with SLE. We present a 39-year old female with initial diagnosis of SLE eight years ago who suddenly developed a productive cough, acute abdomen and paralysis of the lower limbs. Magnetic resonance imaging of the spine revealed thoracic spinal SAH with varying degrees of thoracic spinal cord compression...
March 28, 2018: Clinics and Practice
Ida Sofie Grønningsæter, Aymen Bushra Ahmed, Nils Vetti, Silje Johansen, Øystein Bruserud, Håkon Reikvam
The increasing use of radiological examination, especially magnetic resonance imaging (MRI), will probably increase the risk of unintended discovery of bone marrow abnormalities in patients where a hematologic disease would not be expected. In this paper we present four patients with different hematologic malignancies of nonplasma cell types. In all patients the MRI bone marrow abnormalities represent an initial presentation of the disease. These case reports illustrate the importance of a careful diagnostic follow-up without delay of patients with MRI bone marrow abnormalities, because such abnormalities can represent the first sign of both acute promyelocytic leukemia as well as other variants of acute leukemia...
March 28, 2018: Clinics and Practice
Ipek S Edipoglu, Fatma Celik, Tutku Ozdogan, Serdar Comert, B Haluk Guvenc
Perioperative management of a neonate with congenital diaphragmatic hernia (CDH) is challenging because of pulmonary hypoplasia, pulmonary hypertension, and respiratory insufficiency. In this report, we present our intra-operative experience in a 4-days old and 3070 grams CDH neonate. He was admitted to neonatal intensive care unit and intubated due to severe respiratory insufficiency. He showed signs of severe pulmonary hypoplasia and his echocardiography revealed a cardiac dextroversion. The patient was relatively stabilized after four days under combined high-frequency oscillatory ventilation (HFOV) and inhaled nitric oxide (iNO)...
March 28, 2018: Clinics and Practice
Munish Sharma, Eduard Koman, Gary S Ledley, Sung-Hae Cho
Amyloidosis is a complex group of disorders that can involve many organs and cause their dysfunction. Cardiac involvement indicates worse prognosis and influences treatment strategies. Cardiac amyloidosis is an under-diagnosed entity and high index of clinical suspicion and careful interpretation of basic diagnostic tools such as electrocardiogram and echocardiography is needed for early detection. Congestive heart failure due to restrictive pattern and/or conduction system abnormality, in absence of coronary artery disease should raise suspicion...
March 28, 2018: Clinics and Practice
Akiko Takashima, Naoki Takeshita, Toshihiko Kinoshita
Having a uterine scar places a woman at increased risk of complications, such as Cesarean scar pregnancy (CSP), uterine rupture, placenta previa, and placenta accreta, in subsequent pregnancies. We report a case of uterine rupture at 11 weeks of gestation in a woman with a previous Cesarean section. A 43-year-old woman with a history of abdominal myomectomy and Cesarean section had her pregnancy induced by in vitro fertilization with donor eggs. The exact location of the gestational sac was identified on her first day of hospitalization, and her pregnancy was suspected to be a CSP...
March 28, 2018: Clinics and Practice
Tagore Sunkara, Eric Omar Then, Andrea Culliford, Vinaya Gaduputi
Rectal tumors are often encountered as an incidental finding on screening colonoscopy. As per the World Health Organization, they are categorized according to their histologic appearance. These include epithelial tumors, mesenchymal tumors and lymphomas. Of interest, in our case, are mesenchymal tumors. These are sub-classified into leiomyomas and gastrointestinal stromal tumors. Our case is a 33-year old male who was diagnosed with a rectal leiomyoma. The uncommon incidence and subsequent management of a rectal leiomyoma in a male, make this case worthy for literature review...
March 28, 2018: Clinics and Practice
Ângela Melo, Rita Dinis, António Portugal, Ana Isabel Sousa, Isabel Cerveira
Conjoined twinning occurs in 1/100 of monozygotic twins, 1/50,000 gestations and 1/250,000 live births. It is the consequence of a division event at the primitive streak stage of the human embryonic development, about 13-14 days after fertilisation, in monochorionic monoamniotic gestations. A healthy pregnant woman, Gravida 2 Para 1, was admitted into our Fetal Medicine Unit to perform the first trimester ultrasound. A diagnosis of conjoined parapagus twinning based on ultrasound features was made at 11 weeks of gestation, and the couple decided to terminate the pregnancy...
March 28, 2018: Clinics and Practice
Xuanxuan Chen
Having a hepatitis B surface antibody (HBsAb) titre of more than 10 mIU/mL after hepatitis B vaccination is generally considered to confer immunity to hepatitis B. This case report discusses an unusual case of a false positive hepatitis B core total antibody (HBcAb) following administration of either Rho (D) immune globulin (Human) injection or influenza vaccine in a patriuent who was previously immunised against hepatitis B.
March 28, 2018: Clinics and Practice
Athanasios K Petridis, Marian Suresh, Jan F Cornelius, Angelo Tortora, Hans Jakob Steiger, Bernd Turowski, Rebecca May
Black blood magnetic resonance imaging (MRI)is a promising imaging tool in predicting aneurysm rupture. Could it be also valuable in evaluating the treatment effect of endovascular and conservative treated aneurysms? Two patients were treated with stent and coil and one with Aspirine (ASS). Correlation of treatment response and contrast enhancement of the aneurysm wall is examined. In the first case stenting failed to treat the aneurysm and contrast enhancement in the wall did never subside during follow up black blood MRI...
January 8, 2018: Clinics and Practice
Sachin C Sarode, Gargi S Sarode, Yashwant Ingale, Manjusha Ingale, Mahesh Chavan, Nilesh Patil, Barnali Majumdar, Prashant Kumar, Shankargouda Patil
Formalin is a hazardous chemical, yet it is the choice of fixative for diagnostic pathology. Dental surgeons routinely use formalin for preservation of oral biopsy specimens. Literature search revealed that during regular biopsy procedures, unintentional injection with formalin has occurred, and such rare seven cases have been reported till date. In addition to the literature review, the present article describes first case of accidental local infiltration with formalin into the buccal mucosa during a biopsy procedure, its damaging effect on the oral tissues, subsequent judicious management of the patient and successful tissue reconstruction with collagen membrane...
January 8, 2018: Clinics and Practice
Vivek Velayudhan Nair, Sunila Thomas, Jincy Thomas, Shabna Fathima Salim, Deena Thomas, Tomson Thomas
The aim was to compare age estimation using Cameriere's and Demirjian's methods to chronologic age in children with mixed dentition in a rural population of Kerala. The present study comprised of 10 subjects of age range 7-12 years. Dental age was assessed using Cameriere's and Demirjian's methods and was compared to the chronologic age. Panoramic radiographs were used for assessment of dental age. Data were analysed using paired t-test. The mean of difference obtained was 0.92 and the pvalue was 0.172 which showed insignificant difference between the two methods...
January 8, 2018: Clinics and Practice
Mostafa Shahrezaee, Mohammad Ali Okhovatpour, Mohammad Banasiri, Seyyed Reza Sharifzadeh
Various therapeutic methods are available to treat patients with intertrochantric fracture, which is usually caused by falling down. This complication is usually observed among the elderly, particularly old women. The choice of the proper therapeutic method depends on many factors including patient's condition, type of fracture, and the amount of movement. Hip arthroplasty is one of these therapeutic methods, which have certain advantages and disadvantages. Immediate resumption of walking with the ability of weight toleration and absence of complications such as aseptic necrosis are some advantages of this method...
January 8, 2018: Clinics and Practice
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