OpenMed/multicare-articles huggingface dataset:
A novel mutation in the UBAP1 gene causing hereditary spastic paraplegia: A case report and overview of the genotype-phenotype correlation
Authors: Peiqiang Li, Xiande Huang, Senmao Chai, Dalin Zhu, Huirong Huang, Fengdie Ma, Shasha Zhang, Xiaodong Xie
Journal: Front Genet (2022)
Keywords: ubap1, case report, hereditary spastic paraplegia, novel mutation, whole-exome sequencing
MeSH terms: Case Reports

Hereditary Spastic Paraplegia (HSP) is considered to be one of the common neurodegenerative diseases with marked genetic heterogeneity. Recently, the mutations in ubiquitin-associated protein 1 (UBAP1) have been described in patients with HSP, known as spastic paraplegias 80 (SPG80). Here, we reported a Chinese HSP family presenting a frameshift mutation in the UBAP1 gene leading to complex HSP. Their clinical features encompassed spastic paraparetic gait, exaggerated patellar tendon reflexes, bilateral Babinski signs, and hyperactive Achilles tendon reflex. The proband also had severe urinary incontinence and a dermoid cyst at the lumbar 4-5 spinal cord, which rarely occurs in HSP patients. Following whole-exome sequencing, a novel heterozygous mutation (c.437dupG, NM_016,525) was identified in the UBAP1 that segregated with the family's phenotype and resulted in truncating UBAP1 protein (p.Ser146ArgfsTer13). Moreover, we reviewed the genotypes of UBAP1 and the phenotypic variability in 90 HSP patients reported in the literature. We found that the age of onset in UBAP1-related patients was juvenile, and there were population differences in the age of onset. The main complications were lower extremity spasticity, hyperreflexia, and the Babinski sign. Exon 4 of UBAP1 was identified as a mutation hotspot region. Our study expands the knowledge of UBAP1 mutations, which will aid in HSP patient counseling. Further molecular biological research is needed to explore the genotype-phenotype correlations of UBAP1-related HSP.
The diagnosis of pulmonary embolism without contrastis not always Challenging: be aware of hyperdense lumen sign
Authors: Eylem Kuday Kaykisiz, Erden Erol Unluer, Utku Eser
Journal: Pan Afr Med J (2018)
Keywords: ctpa, pulmonary embolism, unenhanced thorax ct
MeSH terms: Aphasia / etiology, Contrast Media / administration & dosage, Pulmonary Embolism / diagnostic imaging, Tomography, X-Ray Computed / methods, Case Reports, Aged, Aphasia / diagnosis, Emergency Service, Hospital, Female, Humans, Contrast Media

Acute pulmonary embolism (PE) diagnosis is a challenging task, despite the advanced diagnostic methods for both clinicians and radiologists. Awareness of the "hyperdense lumen sign" in patients obtained un-enhanced computarized tomography (CT) of chest mayhelp to establish an acute PE diagnosis, especially in clinically non suspected PE patients. A 78-year-old woman was brought to our emergency department (ED) with an aphasia complaint. The patient's dizziness improved in ED. Neurological examination returned to base line status but sinus tachycardia and low saturation value on room air were continuing. Un-enhanced CT of the chest demonstrates hyperdense material within the right main pulmonary artery. Contrast-enhanced CTPA demonstrated hypodense filling defect within the rigth main pulmonary artery consistent with PE. Independent of the patient's complaint, the measurement of all vital signs is important especially in elderly patients. Emergency physicians have to be aware of that the "hyperdense lumen sign" may point out PE and should be prevented from delayed recognition.
A Rare Case of Vascular Proliferation in the Mandible of a Juvenile Horse
Authors: Eva Leitzen, Sebastian Stumpf, Claudia Zimmermann, Astrid Bienert-Zeit, Maren Hellige, Wolfgang Baumgärtner, Christina Puff
Journal: Front Vet Sci (2020)
Keywords: angiomatosis, congenital, equine, horse, mandibular mass, vascular proliferation
MeSH terms: Case Reports

A fast growing, circumscribed, unilateral swelling of the right mandible of a juvenile horse was observed. Within few weeks, the continuously growing mass reached dimensions ranging from 7 to 10 cm in diameter and resulted in loss of the first deciduous premolar of the affected side. The animal was euthanized due to lesion progression. Histologically the mandibular swelling consisted of numerous variably sized vascular structures, partly filled with erythrocytes and embedded in a loosely arranged fibrous stroma within the medullary cavity of the mandible. Juvenile mandibular angiomatosis was diagnosed. To the authors' knowledge this is the first description of this rare entity in the mandible of a foal.
Use of SPY Elite Fluorescence Imaging in Creation of a Continent Urinary Diversion
Authors: Ali Hajiran, David Zekan, Tyler Trump, Dylan Dangerfield, Adam Luchey
Journal: Case Rep Urol (2019)
MeSH terms: Case Reports

The use of SPY Elite Fluorescence Imaging has recently grown popular among multiple surgical specialties, including colorectal, plastic, endocrine, ophthalmologic, and vascular surgery, due to its ability to quickly and accurately assess tissue perfusion and guide intraoperative decision making. To our knowledge, the use of SPY imaging in urologic reconstructive surgery has yet to be reported. We present a case in which SPY imaging was used intraoperatively to assess perfusion of an ileocecal anastomosis and a segment of bowel prior to creation of a continent urinary diversion following radical cystectomy.
Usefulness of CT-scan in the diagnosis and therapeutic approach of gallstone ileus: report of two surgically treated cases
Authors: Danzi Michele, Grimaldi Luciano, Fabozzi Massimiliano, Reggio Stefano, Danzi Roberta, Soscia Ernesto, Amato Bruno
Journal: BMC Surg (2013)
MeSH terms: Gallstones / diagnostic imaging, Gallstones / surgery, Intestinal Obstruction / diagnostic imaging, Intestinal Obstruction / surgery, Tomography, X-Ray Computed, Case Reports, Aged, Aged, 80 and over, Female, Gallstones / complications, Humans, Intestinal Obstruction / etiology

Background:
Gallstone ileus is a rare cause of gastrointestinal obstruction, more frequent in elderly patients, whose treatment is essentially surgical, although some para-surgical and mini-invasive possibilities exist, allowing the solution of such obstructive condition in a completely non-invasive way.
Description:
In our study, after reporting two cases of biliary ileus managed by our surgical division, we will analyze the most suitable diagnostic procedures and the therapeutic approaches to this pathology.
Conclusions:
Gallstone ileus is a quite rare pathology in population, but affects more frequently elderly people; The treatment of this disease is mainly surgical.
1p36 deletion syndrome: first case report in Morocco detected by fluorescence in situ hybridization
Authors: Kenza Dafir, Fatima Zahra Bouzid, Maria Mansouri, Nisrine Aboussair
Journal: Pan Afr Med J (2020)
Keywords: 1p36 deletion, case report, delayed development, facial dysmorphia, fluorescence in situ hybridization
MeSH terms: Chromosome Disorders / diagnosis, In Situ Hybridization, Fluorescence, Case Reports, Child, Preschool, Chromosome Deletion, Chromosome Disorders / physiopathology, Chromosomes, Human, Pair 1, Comparative Genomic Hybridization, Female, Humans, Morocco, Chromosome 1p36 Deletion Syndrome

The 1p36 deletion syndrome results from a heterozygous deletion of the terminal chromosomal band of the short arm of chromosome 1. Monosomy 1p36 is the most common terminal deletion observed in men (1 in 5000 newborns), characterized by distinctive dysmorphia, delayed growth, psychomotor retardation, intellectual deficit, epilepsy and heart defects. Fluorescence in situ hybridization (FISH) and comparative genomic hybridization (CGH-array) are currently the two best diagnostic techniques. The objective of this work is to take stock of the first Moroccan case of 1p36 deletion and to illustrate the role of the geneticist in the diagnosis and management of this syndrome. There is currently no effective medical treatment for this disease.
Intrapelvic Femoral Head Dislocation without Associated Proximal Femur Fracture: A Case Report and Description of Closed Reduction Technique
Authors: S Craig Morris, Priyantha L Wickramanayake, Peter J Wilton, Jonathan L Allen
Journal: Case Rep Orthop (2019)
MeSH terms: Case Reports

Traumatic hip dislocations are potentially devastating injuries, especially in young patients, and require emergent orthopedic treatment. Given the significant amount of energy required to cause these injuries, a high index of suspicion is necessary to identify related injuries. The associated injuries, direction of dislocation, and time between injury and reduction represent the known prognostic factors, based on limited available research. Intrapelvic hip dislocations represent an uncommon variant of the traumatic hip dislocation, with all previously reported cases involving ipsilateral proximal femur fractures. We present a case of intrapelvic femoral head dislocation without an associated proximal femur fracture, as well as the maneuvers used to treat the patient via a closed reduction.
Chairside Restorations of Maxillary Anterior Teeth with CAD/CAM Porcelain Laminate Veneers Produced by Digital Workflow: A Case Report with a Step to Facilitate Restoration Design
Authors: Elif Öztürk Bayazıt, Murat Karabıyık
Journal: Case Rep Dent (2019)
MeSH terms: Case Reports

Since the introduction of porcelain laminate veneers in the early 1980s, the anterior esthetic rehabilitation with PLVs has been provided with a conventional restorative technique for many years. Recently, a new concept named digital workflow has been raised that will lead to the abandonment of conventional procedures during the fabrication of PLVs. Digital workflow is a new concept facilitating applications by adapting digital systems to clinical applications, including intra- and extraoral photographs, diagnostic wax-up, mock-up, intraoral camera, and use of the CAD/CAM device. The aim of this case report is to describe the clinical procedures of porcelain laminate veneers using digital workflow with a facilitating step in a single session and to evaluate the PLVs after one year of clinical service.
Postintubation tracheal stenosis 35 years after neonatal resuscitation
Authors: Yagasaki Hidehiko, Mitsutomo Kohno, Madoka Nito, Naohiro Aruga, Kana Oiwa, Tomoki Nakagawa, Ryota Masuda, Masayuki Iwazaki
Journal: Int J Surg Case Rep (2020)
Keywords: endotracheal treatment, neonatal resuscitation, postintubation tracheal stenosis
MeSH terms: Case Reports

Introduction:
Postintubation tracheal stenosis involves granulation or cicatrization of the tracheal epithelium. It is progressive and can become life-threatening within a few months after extubation.
Presentation of case:
We here report a case of tracheal stenosis with a delayed manifestation, presenting 35 years after endotracheal intubation for neonatal resuscitation. A female patient complained of dyspnea during pregnancy. Bronchoscopy revealed 75% constriction of the tracheal lumen by cicatrization, from the 2nd to 4th tracheal rings. After child-birth, the scar tissue was ablated using argon plasma coagulation.
Discussion:
The patient had no significant medical history, such as severe airway infection or cervical/chest trauma, which might have caused the circumferential cicatricial tracheal stenosis, other than the endotracheal intubation she had undergone for neonatal resuscitation. Therefore, we considered this to reflect postintubation tracheal stenosis with delayed manifestation.
Conclusion:
Delayed postintubation tracheal stenosis should be taken into consideration, when a patient suffers from suffocating tracheal stenosis.
Advanced 3D "Modeling" and "Printing" for the Surgical Planning of a Successful Case of Thoraco-Omphalopagus Conjoined Twins Separation
Authors: Alessandro Inserra, Luca Borro, Marco Spada, Simone Frediani, Aurelio Secinaro
Journal: Front Physiol (2020)
Keywords: 3d images, 3d printing, 3d printing in cardiothoracic surgery, 3d printing in surgery, conjoined twins

Background:
The surgical separation of two Conjoined Twins is a particularly complex operation. Surgical times are particularly long and post-operative complications are very frequent in this type of procedure. We report a clinical case of surgical separation of two thoraco-omphalopagus conjoined twins in which, thanks to the use of (3D) three dimensional technologies, we were able to significantly reduce operative times and improve clinical outcomes.
Methods:
We performed a 3D reconstruction of the anatomical parts involved in congenital fusion using Computer Tomography (CT) images.We obtained virtual anatomical models of the patients which allowed us to estimate essential details as the residual post-operative thoracic volume as well as the exact position of resection planes for both the general separation and for the hepatic splitting procedure. Subsequently, we printed 3D anatomical models of the thoracic cage and sternum and of the liver with the plane of resection. Finally, we printed an additional 3D anatomical model of the two patients representing different organs with multiple colors and materials.
Results:
The use of 3D printing reduced the duration of surgery by 30% with a favorable patient outcome. Two years after the operation, the patients do not present any type of deficit and have a normal life without any significant complication.
Conclusion:
Virtual anatomical 3D models and 3D printing represent a valid technological tool to support complex surgical operations, especially in pre-surgical planning. 3D models are important tools to better understand complex anatomy and to discuss clinical cases among members of the surgical team.
A Case of Cortical Deafness due to Bilateral Heschl Gyrus Infarct
Authors: Santhosh Narayanan, K Abdul Majeed, Gomathy Subramaniam, Arathi Narayanan, K M Navaf
Journal: Case Rep Med (2017)
MeSH terms: Case Reports

We report the case of a 58-year-old male who presented with an episode of seizure and abrupt onset hearing loss. Neuroimaging revealed acute infarcts in bilateral Heschl gyri. Objective tests of peripheral auditory function were essentially normal and a diagnosis of cortical deafness was made.
Children and Young People Presenting in a Pediatric Emergency Department in North-West England in Suicidal Crisis: An Exploratory Case Series Study
Authors: Emma Ashworth, Serena Provazza, Molly McCarthy, Pooja Saini
Journal: Front Psychiatry (2022)
Keywords: child and adolescent, crisis, emergency departments, mental health, self-harm, suicide

Suicide is a leading cause of death among children and young people (CYP) worldwide, and rates have been increasing in recent years. However, while evidence exists regarding factors associated with suicide and self-harm, there is limited information publicly available on the CYP who present in suicidal crisis. This is a case series study of CYP (aged 8-16) experiencing suicidal crisis who presented in an Emergency Department at a pediatric hospital in North-West England between March 2019 and March 2021 (n = 240). Clinical records were extracted and audited to explore demographic data, methods of recording patient attendance, the clinical pathways available and the patterns of pathway usage, and differences in CYP presentations before and after the COVID-19 pandemic. Attendees were mostly White females, with a mean age of 13.5 years, and 24% had a diagnosed special educational need. "Social/social problems" was the most commonly used code for recording attendance (38%), and pathways varied depending on code used. A range of parental and familial factors were also identified. There were more CYP presenting with self-harm in addition to suicide ideation after the pandemic began (43 vs 27% pre-pandemic). This study provides the first clear insight into CYP who seek help at a North-West Emergency Department for suicidal crisis, and work is now needed to develop effective prevention strategies tailored toward the groups most at-risk.
Effective kissing stent to severe stenosis of the superior mesenteric artery replacing the common hepatic artery
Authors: Yusuke Date, Hiromasa Katoh, Takatoshi Abe, Hirhoshi Nagamine, Hiroiku Hara, Yushi Kawase
Journal: CVIR Endovasc (2018)
Keywords: chronic mesenteric ischemia, kissing stent technique, pneumatosis intestinalis, pneumoperitoneum

Background:
Endovascular therapy (ET) for chronic mesenteric ischemia (CMI) is a effective treatment to relieve the symptoms, such as postprandial abdominal pain, food fear, and progressive weight loss. CMI is not known to be caused by rare anatomical variation of severe stenosis of the superior mesenteric artery (SMA), with replaced the common hepatic artery to the SMA. The treatment of such a rare anatomical variation using ET technique has not been discribed. ET with kissing stent technique can be applied to the CMI accompanied with a rare anatomical variation.
Case presentation:
An 80-year-old woman presented with a history of intermittent, severe epigastric pain. Over the preceding 5 months, she had less severe and self-resolving epigastric pain 15-30 min after every meal. Abdominal computed tomography (CT) showed severe calcification of the SMA origin and bubble-like intramural gas of the small bowel with the contrasted wall pneumoperitoneum. As the patient did not have peritonitis, a conservative approach was used. Angiography performed after symptom resolution showed severe stenosis of the SMA origin with calcification, and the SMA had replaced the common hepatic artery. ET with the kissing stent technique, namely stenting to the SMA and common hepatic artery, was successfully performed and relieved the patient's symptoms.
Conclusions:
CMI cause the symptoms of Pneumatosis intestinalis (PI) and pneumoperitoneum. Severe stenosis of the SMA origin replacing the common hepatic artery is a rare anatomic variation, which can cause CMI symptoms. ET with a kissing stent is the effective treatment option for the mesenteric artery stenosis accompanied with such rare anatomical variation.
Coronary artery perforation and regrowth of a side branch occluded by a polytetrafluoroethylene-covered stent implantation
Authors: Shams Y-Hassan, Christer Sylvén, Loghman Henareh
Journal: ISRN Cardiol (2011)
MeSH terms: Case Reports

Stenting of the right coronary artery stenosis caused coronary perforation and profound dye (blood) extravasation in a 69-year-old female patient. Instantaneous balloon inflation followed by implantation of a polytetrafluoroethylene- (PTFE-)covered stent sealed the coronary perforation, restored the blood flow, and perceivably caused acute occlusion of a large side branch (SB). The immediate in situ balloon inflation prevented the development of cardiac tamponade. Surprisingly, followup coronary angiography 4 and 11 months later showed spontaneous recanalization of the SB occluded by PTFE-covered stent. The SB was filled through a channel beginning at the end of the covered stent streaming retrogradely beneath it toward the SB ostium. Up to the best of our knowledge, this is the first described case of late spontaneous recanalization of as SB occluded by a PTFE-covered stent.
A Rare Case of Splenic Artery Thrombosis Provoked By Medroxyprogesterone Acetate Requiring Splenectomy
Authors: Asad A Haider, Raghav Bassi, Pranav Prakash, Abdullahi Hussein, Hamza Alzghoul, Muhammad Bilal, Anuoluwa Oyetoran, Uma G Iyer
Journal: Cureus (2023)
Keywords: depo-provera, medication side-effects, spleen infarction, spleen thrombosis, therapeutic anticoagulation
MeSH terms: Case Reports

Splenic artery thrombosis is estimated to occur in only 0.016% of hospital admissions. Hormonal contraception is known to have hypercoagulable side effects, but splenic artery thrombosis (SAT) followed by functional autosplenectomy is a very rare side effect. We report a case of a 48-year-old female with persistent SAT provoked by depot medroxyprogesterone acetate (DMPA). She initially presented with severe left lower quadrant abdominal pain, and imaging revealed an extensive thrombus in the splenic artery. She was immediately started on intravenous heparin, and her symptoms improved after a few days, at which point she was discharged on oral apixaban. Three months after discharge, the patient presented with symptoms similar to the initial presentation. Further history revealed that she received an injectable DMPA shot prior to her initial admission. Other possible causes of SAT were ruled out. On imaging, her previous thrombus had increased in size and now filled the entire splenic artery. Therefore, the patient underwent robotic splenectomy with remarkable improvement in her symptoms. This case represents a rare clinical manifestation of a hypercoagulable state induced by DMPA. We review the existing literature to explain the epidemiology, presentation, diagnosis, and treatment of SAT, and incorporate our patient's presentation into the existing literature regarding the effect of contraception in inducing thrombotic events.
Neuroinfection as a Mask of Lung Cancer: A Case Series
Authors: Beata Kuklińska, Anna Moniuszko-Malinowska, Robert Mróz, Sławomir Pancewicz, Joanna Zajkowska
Journal: Case Rep Infect Dis (2016)

Introduction. The diagnosis of lung cancer may still be difficult due to the fact that the first symptoms very often mimic symptoms of other diseases. Case Presentation. In this paper we present two cases, in which initial diagnosis of neuroinfection delayed proper diagnosis. Conclusion. Based on our experience we concluded that neurological symptoms in the area endemic for tick-borne diseases suggesting neuroinfection require careful differential diagnosis. Moreover, neurological symptoms in heavy smokers may be associated with metastases of lung cancer.
Rapid urban malaria appraisal (RUMA) I: epidemiology of urban malaria in Ouagadougou
Authors: Shr-Jie Wang, Christian Lengeler, Thomas A Smith, Penelope Vounatsou, Diallo A Diadie, Xavier Pritroipa, Natalie Convelbo, Mathieu Kientga, Marcel Tanner
Journal: Malar J (2005)
MeSH terms: Malaria / epidemiology, Urban Health, Urban Population, Research Support, Non-U.S. Gov't, Antimalarials / therapeutic use, Burkina Faso / epidemiology, Humans, Malaria / drug therapy, Odds Ratio, Population Surveillance, Risk Factors, Antimalarials

Background:
Rapid urbanization in sub-Saharan Africa has a major impact on malaria epidemiology. While much is known about malaria in rural areas in Burkina Faso, the urban situation is less well understood.
Methods:
An assessment of urban malaria was carried out in Ouagadougou in November -December, 2002 during which a rapid urban malaria appraisal (RUMA) was applied.
Results:
The school parasitaemia prevalence was relatively high (48.3%) at the cold and dry season 2002. Routine malaria statistics indicated that seasonality of malaria transmission was marked. In the health facilities, the number of clinical cases diminished quickly at the start of the cold and dry season and the prevalence of parasitaemia detected in febrile and non-febrile cases was 21.1% and 22.0%, respectively. The health facilities were likely to overestimate the malaria incidence and the age-specific fractions of malaria-attributable fevers were low (0-0.13). Peak prevalence tended to occur in older children (aged 6-15 years). Mapping of Anopheles sp. breeding sites indicated a gradient of endemicity between the urban centre and the periphery of Ouagadougou. A remarkable link was found between urban agriculture activities, seasonal availability of water supply and the occurrence of malaria infections in this semi-arid area. The study also demonstrated that the usage of insecticide-treated nets and the education level of family caretakers played a key role in reducing malaria infection rates.
Conclusion:
These findings show that determining local endemicity and the rate of clinical malaria cases are urgently required in order to target control activities and avoid over-treatment with antimalarials. The case management needs to be tailored to the level of the prevailing endemicity.