OpenMed/multicare-articles huggingface dataset:
Vertebroplasty with posterior spinal fusion for osteoporotic vertebral fracture using computer-assisted rod contouring system: A new minimally invasive technique
Authors: Haruki Funao, Norihiro Isogai, Yutaka Sasao, Makoto Nishiyama, Ken Ishii
Journal: Int J Surg Case Rep (2020)
Keywords: computer-assisted rod contouring system, minimally invasive spine surgery, osteoporotic vertebral fracture, percutaneous pedicle screw, systemic scleroderma, vertebroplasty
MeSH terms: Case Reports

Introduction:
Surgical treatment of osteoporotic vertebral fracture (OVF) has been challenging for spine surgeons, because there are potential risks of instrumentation failure; such as screw loosening, loss of correction, or pseudarthrosis, due to bone fragility in elderly patients with several comorbidities.
Presentation of case:
A 68-year-old female presented with a severe low back pain and bilateral thigh pain. She had a history of systemic scleroderma, which was complicated by interstitial lung disease. Although she initially underwent non-surgical treatment with bracing for 7 months, her symptoms had progressively deteriorated, and her radiographs showed non-union at L1 and progressive kyphotic deformity at the thoracolumbar spine. Because an anterior approach was inadvisable due to interstitial lung disease, vertebroplasty with posterior spinal fusion was performed using percutaneous pedicle screws (PPS) at the upper most and lowest instrumented vertebra combined with sublaminar taping and computer-assisted rod contouring system. Good bony union was achieved with no screw loosening at 1-year follow-up.
Discussion:
Various surgical procedures have been applied according to the fracture type or medical condition of the patient. Minimally invasive posterior spinal fusion would be a less invasive approach in patients with poor medical condition. PPS can prevent the excessive dissection of paravertebral muscles, and this is especially advantageous at the proximal and distal end of long constructs. A recent computer-assisted rod contouring system accurately matches each screw head resulting in reduced strength of the screw-bone interface.
Conclusion:
This technique would be beneficial in the elderly or immunocompromised patients with OVF.
A Novel Mutation in the NCF2 Gene in a CGD Patient With Chronic Recurrent Pneumopathy
Authors: Jose Antonio Tavares de Albuquerque, Alessandra Miramontes Lima, Edgar Borges de Oliveira Junior, Edson Kiyotaka Ishizuka, Walmir Cutrim Aragão-Filho, Nuria Bengala Zurro, Sônia Mayumi Chiba, Fátima Rodrigues Fernandes, Antonio Condino-Neto
Journal: Front Pediatr (2019)
Keywords: nadph oxidase, ncf2 gene, chronic granulomatous disease, interferon-gamma, novel mutation
MeSH terms: Case Reports

Chronic granulomatous disease (CGD) is an inherited, genetically heterogeneous disease characterized by defective phagocytic cell microbicidal function, leading to increased susceptibility to bacterial and fungal infections. CGD is caused by mutations in components of the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase system, which is responsible for reactive oxygen species production during phagocytosis. Mutations in the neutrophil cytosolic factor 2 (NCF2) gene account for <5% of all cases. Here, we report a case of a 2-year-old female with persistent recurrent pneumopathy, even under trimethoprim-sulfamethoxazole (TMP-SMX) and itraconazole prophylaxis combined with IFNγ treatment. Genetic analysis revealed a novel homozygous mutation in NCF2, sequence depletion in a splicing region (c.256_257+2delAAGT NM_000433), leading to a K86Ifs*2 residue change in the p67-phox protein.
Closed Reduction of an Acute Volar Dislocation of the Distal Radio-Ulnar Joint by a Modified Technique
Authors: Samuel Larrivée, Graeme Matthewson, Laurie Barron
Journal: Case Rep Orthop (2018)
MeSH terms: Case Reports

There is scarce literature describing treatment of volar dislocation of the distal radio-ulnar joint (DRUJ). Irreducible dislocation is usually treated surgically. We present the case of a 37-year-old male with acute right wrist pain and loss of pronation. A diagnosis of volar DRUJ dislocation was made. Reduction using conventional technique was unsuccessful. A second attempt was successful by applying pressure over the interosseous membrane of the forearm and manipulating the ulnar head. At three weeks, the patient had minimal pain, a stable DRUJ, and near complete range of motion. This modified technique for reduction of a locked anterior DRUJ dislocation can be used to avoid an unnecessary surgical intervention.
Extending Coronectomy Indications to Third Molars with Taurodontism to Prevent Paresthesia and Mandible Fracture
Authors: Polianne Alves Mendes, Isabela Moreira Neiva, Cláudia Borges Brasileiro, Ana Cristina Rodrigues Antunes Souza, Leandro Napier Souza
Journal: Case Rep Dent (2018)
MeSH terms: Case Reports

Taurodontism is considered a dental anomaly responsible for a morphoanatomical change in the shape of the tooth in which the roots are reduced in size but the body of the tooth is enlarged and bulky. The aim of this paper is to present a case of a 25-year-old female patient with taurodontism of mandibular partially erupted third molars, presenting a high risk of angle fracture and paresthesia in case of their removal, treated by means of coronectomy. The postoperative period was uneventful and the patient remained in follow-up for 12 months. In conclusion, the identification of third molars with higher risk of complications related to their extractions is the key to consider conservative measures to avoid problems. Coronectomy is a relatively simple technique that should be taken into account when considering bulky, deeply located third molars with a high risk of paresthesia or mandibular fracture, even in presence of taurodontism.
Precordial pain caused by a hemocholecyst due to gallbladder cancer: A case report
Authors: Goshi Fujimoto
Journal: Int J Surg Case Rep (2023)
Keywords: chest pain, gallbladder cancer, haemobilia, haemocholecyst, precordial pain
MeSH terms: Case Reports

Introduction and importance:
A hemocholecyst refers to hemorrhage originating from and confined to the gallbladder. Intraluminal hemorrhage of the gallbladder is a rare symptom of gallbladder cancer (GBC), which can cause hemorrhagic cholecystitis. The symptoms of hemorrhagic cholecystitis are similar to those of classic acute cholecystitis where precordial pain is atypical. Here, we report a case of a precordial pain-inducing hemocholecyst due to GBC.
Case presentation:
An 86-year-old woman was admitted to the emergency department due to persistent, sudden-onset precordial pain. Electrocardiogram (ECG) findings and cardiac enzyme levels were normal; however, severe anemia (hemoglobin 6.4 g/dL) was noted. Computed tomography (CT) showed a tense gallbladder with a heterogeneous, high-density area. Contrast-enhanced CT did not reveal contrast extravasation or obvious mass lesions. Considering the risk of hemorrhagic cholecystitis, we performed laparoscopic cholecystectomy. Operative findings were normal, however, the gallbladder lumen was filled with blood clots, while the gallbladder body had a papillary, infiltrating-type lesion.
Clinical discussion:
Histopathological examination confirmed the diagnosis of moderately differentiated gallbladder adenocarcinoma. The precordial pain disappeared postoperatively. Due to the patient's age and general condition, no additional gallbladder bed resection or S4/5 hepatic bisegmentectomy and lymphadenectomy were performed.
Conclusion:
A hemocholecyst can cause precordial pain; therefore, abdominal imaging may be useful for diagnosing patients with nonspecific precordial pain. In addition, GBC should be considered as a potential cause of hemocholecysts. Early diagnosis and urgent cholecystectomy should be performed to prevent gallbladder perforation in patients with hemocholecysts.
Lymphocytic choriomeningitis virus meningitis after needlestick injury: a case report
Authors: Sarah Dräger, Anna-Friederike Marx, Fiona Pigny, Pascal Cherpillod, Philip Eisermann, Parham Sendi, Andreas F Widmer
Journal: Antimicrob Resist Infect Control (2019)
Keywords: accidental infection, lymphocytic choriomeningitis virus, meningitis, needlestick injury, rt-pcr
MeSH terms: Arenaviridae Infections / etiology, Meningitis / diagnostic imaging, Meningitis / etiology, Needlestick Injuries / complications, Case Reports, Accidents, Occupational, Antibodies, Viral / blood, Arenaviridae Infections / diagnosis, Female, Humans, Laboratory Personnel, Lymphocytic choriomeningitis virus / genetics, Magnetic Resonance Imaging, Meningitis / virology, Needlestick Injuries / virology, Seroconversion, Antibodies, Viral

Background:
Needlestick accidents while handling of infectious material in research laboratories can lead to life-threatening infections in laboratory personnel. In laboratories working with the lymphocytic choriomeningitis virus (LCMV), the virus can be transmitted to humans through needlestick injury and lead to serious acute illness up to meningitis.
Case presentation:
We report of a case of LCMV meningitis in a laboratory worker who sustained a penetrating needlestick injury with a LCMV-contaminated hollow needle whilst disposing of a used syringe into the sharps waste bin. Four days after needlestick injury the laboratory worker developed a systemic disease: 11 days after exposure, she was diagnosed with meningitis with clinical signs and symptoms of meningismus, photophobia, nausea and vomiting, requiring hospitalisation. The PCR was positive for LCMV from the blood sample. 18 days after exposure, seroconversion confirmed the diagnosis of LCMV-induced meningitis with an increase in specific LCMV-IgM antibodies to 1:10'240 (day 42: 1:20'480). Ten weeks after exposure, a follow-up titre for IgM returned negative, whereas IgG titre increased to 1:20'480.
Conclusions:
This is the first case report of a PCR-documented LCMV meningitis, coupled with seroconversion, following needlestick injury. It highlights the importance of infection prevention practices that comprise particularly well established safety precaution protocols in research laboratories handling this pathogenic virus, because exposure to even a small amount of LCMV can lead to a severe, life-threatening infection.
Surgery Averted Using a Novel, Minimally Invasive Approach to Treat Very Severe Radial Artery Spasm
Authors: Anthony A Cochet Jr, Daniel A Bellin
Journal: Case Rep Cardiol (2017)
MeSH terms: Case Reports

A 42-year-old male admitted with a non-ST elevation myocardial infarction was referred for invasive angiographic assessment. Based on preprocedural assessment, the right radial artery approach was selected. Despite possessing none of the consensus risk factors for radial artery spasm, in addition to receiving standard arterial spasm prophylaxis and conscious sedation, the patient suffered very severe radial artery spasm with initial catheter placement, resulting in entrapment of a 5 Fr pigtail catheter within the left ventricle. After exhausting traditional methods for resolution of radial artery spasm, surgical intervention appeared to be the only remaining option for removal of the entrapped catheter. Prior to committing to surgery, use of an axillary nerve block to hinder sympathetic vascular tone was suggested and attempted. This intervention resulted in atraumatic catheter removal. We present a case of very severe radial artery spasm refractory to customary interventions, alleviated with a novel, minimally invasive technique, which spared surgical intervention.
A family study of congenital dysfibrinogenemia caused by a novel mutation in the FGA gene: A case report
Authors: Yingli Qiao, Qisi Zhang, Poshi Xu, Yuhui Deng
Journal: Open Med (Wars) (2020)
Keywords: case report, congenital dysfibrinogenemia, fibrinogen, gene mutation
MeSH terms: Case Reports

Congenital dysfibrinogenemia (CD) is a rare hereditary fibrinogen disorder characterized by normal fibrinogen antigen levels associated with lower functional activities. The aim of this study is to analyze the phenotype and genotype of a family of CD. Routine coagulation screening tests were performed on the proband, her parents, and her grandparents. Then, the purified genomic DNA extracted from peripheral blood was amplified by PCR, and Sanger sequencing was performed to further confirm the mutation. The prothrombin time and activated partial thromboplastin time of the proband were normal, thrombin time prolonged, and the activity of fibrinogen (Fg:Ac) decreased significantly, but fibrinogen antigen (Fg:Ag) level was normal. The coagulation function indices of the proband's father and grandfather were similar to her, and the indices of her mother and grandmother were normal. Sequencing results showed that the proband had a heterozygous missense mutation in FGA gene c.92G > A, which caused the mutation of amino acid 31 from glycine to glutamic acid (p.Gly31Glu). Her father had the same heterozygous mutation. In conclusion, the proband suffered from CD. The change of Gly31Glu in A chain due to the c.92G > A heterozygous missense mutation in the FGA gene is the cause of CD in the family. To the best of our knowledge, the mutation site is new and first reported so far.
Case Report: A Novel CXCR4 Mutation in a Chinese Child With Kawasaki Disease Causing WHIM Syndrome
Authors: Xiaopeng Ma, Yaping Wang, Peng Wu, Meiyun Kang, Yue Hong, Yao Xue, Chuqin Chen, Huimin Li, Yongjun Fang
Journal: Front Immunol (2022)
Keywords: cxcr4, kawasaki disease, whim syndrome, genetics, novel mutation
MeSH terms: Mucocutaneous Lymph Node Syndrome, Neutropenia / genetics, Case Reports, Research Support, Non-U.S. Gov't, Child, China, Humans, Immunoglobulins / genetics, Male, Mutation, Primary Immunodeficiency Diseases, Receptors, CXCR4 / genetics, Warts, CXCR4 protein, human, Immunoglobulins, Receptors, CXCR4, WHIM syndrome

WHIM syndrome, an extremely rare congenital disease with combined immunodeficiency, is mainly caused by heterozygous gain-of-function mutation in the CXCR4 gene. There have been no previous case reports of WHIM syndrome with Kawasaki disease. We herein report a case of a boy who developed Kawasaki disease at the age of 1 year. After treatment, the number of neutrophils in his peripheral blood decreased continuously. His medical history revealed that he had been suffering from leukopenia, neutropenia and low immunoglobulin since birth, and his neutrophils could return to the normal level in the presence of infection or inflammation. Clinical targeted gene sequencing of 91 genes associated with granulocyte-related disease revealed that the patient had a novel heterozygous NM_003467; c.1032_1033delTG;p.(E345Vfs*12) variant in exon 2 of CXCR4 gene. Family verification analysis by Sanger sequencing showed that his father also had heterozygous variation at this site, while other family members did not. The computer prediction software indicated that the variation had a high pathogenicity. The computational structure analysis of the mutant revealed significant structural and functional changes in the CXCR4 protein. It should be noted that when unexplained persistent neutropenia with low immunoglobulin occurs after birth, especially when there is a family history of neutropenia, immunodeficiency should be investigated with genetic testing.
Thoracic Endovascular Aortic Repair for Blunt Thoracic Aortic Injury: A Report of Three Cases in Which Surgeries Were Performed at Different Timings
Authors: Yohei Kawatani, Hirotsugu Kurobe, Yoshitsugu Nakamura, Yuji Suda, Takaki Hori
Journal: Case Rep Surg (2018)
MeSH terms: Case Reports

Introduction:
Blunt thoracic aortic injury (BTAI) is a critical condition. Thoracic endovascular aortic repair (TEVAR) is considered a surgical treatment for BTAI. Reports reveal that some patients benefit from conservative and delayed operation rather than emergency operative therapy. Here, we present three BTAI cases that were treated with TEVAR using different timings.
Case presentation:
Case 1 involved a 49-year-old man injured in a car accident and who went into shock. After stabilization with Advanced Trauma Life Support in the emergency room, TEVAR was performed immediately. Case 2 involved a 69-year-old man who was injured after falling. His hemodynamic status was stable and enhanced computed tomography revealed intraluminal hematoma. He underwent TEVAR 15 days after the injury occurred, following conservative therapy. Case 3 involved a 60-year-old man who was injured in a car accident and presented BTAI with subarachnoid hemorrhage and diaphragm tear. A pseudoaneurysm was observed in the distal aortic arch. After open abdominal exploration, diaphragm repair, and observation for subarachnoid hemorrhage, TEVAR was performed 8 hours after arrival. All three patients survived.
Conclusions:
We treated BTAI successfully. We suggest that TEVAR is useful for BTAI. The timing of the operation and therapeutic option, including conservative therapy, should be decided for each patient.
Cerebral Proliferative Angiopathy in a Child, Five Years after an Intraventricular Hemorrhage and Negative Catheter Angiography
Authors: Uri Singfer, Edward Baert, Luc Defreyne
Journal: J Belg Soc Radiol (2023)
Keywords: arteriovenous malformations, cerebrovascular diseases, hemorrhagic stroke, neuroradiology, pediatric/children
MeSH terms: Case Reports

Cerebral proliferative angiopathy (CPA) is a rare cerebrovascular disease comprised of a diffuse network of blood vessels, often spread over several lobes. Due to the presence of normal brain tissue within the malformation, complete resection is not desirable. Several imaging characteristics help to distinguish CPA from brain arteriovenous malformations. We report the case of a patient diagnosed with CPA five years after a spontaneous intraventricular hemorrhage and an initial negative angiogram.
Teaching point:
The radiologist should be able to differentiate CPA from brain AVM to prevent potentially harmful treatment.
Emergency endovascular repair of aortoiliac aneurysms in COVID-19 times
Authors: Rafael de Athayde Soares, Marcus Vinícius Martins Cury, Luiz Maurício da Silva, Patrícia Weiber Schettini Figueiredo, Danilo Augusto Pereira Nery da Costa, Camila de Freitas Correa, Nayara de Arruda Cáceres, Roberto Saciloto
Journal: J Vasc Bras (2021)
Keywords: covid-19, aortic surgery, endovascular surgery, ruptured aortic aneurysms

In this paper, we describe a case series of four patients who were admitted with emergencies related to aortic aneurysms over a 3-day period and were treated with endovascular repair. The first patient was an 81-year-old female with a history of abdominal pain and a ruptured aortic aneurysm diagnosed by AngioCT-scan. The second patient was a 63-year-old male with a history of oral digestive bleeding and an AngioCT-scan showing an aortoenteric fistula. The third patient was a 77-year-old female with sudden-onset abdominal pain and ruptured right common iliac aneurysm. The fourth patient presented with abdominal pain and an AngioCT-scan showed aortic rupture. All four patients were discharged with no major complications or surgical mortality. These case series show that despite the Covid-19 pandemic situation, since elective surgeries decreased, vascular emergencies have increased.
Thyroid heterotopia revealed by a cervical subcutaneous nodule: a clinical case report
Authors: Yannick Mossus, David Mindja Eko, Leonel Atanga, Roger Christian Meva'a Biouele, Adèle-Rose Ngo Nyeki, François Djomou, Alexis Ndjolo
Journal: Pan Afr Med J (2021)
Keywords: thyroid heterotopia, case report, clinical, neck
MeSH terms: Choristoma / diagnostic imaging, Lymphadenopathy / diagnostic imaging, Thyroid Gland / diagnostic imaging, Case Reports, Child, Preschool, Choristoma / surgery, Female, Humans, Neck / diagnostic imaging

Thyroid heterotopia is an abnormal localization of normal thyroid tissue coexisting with a normal organ on a normal localization. It is a rare condition with a frequency that is not well known in the literature. We report a case of thyroid heterotopia in a 30 month-old girl referred for a painless lower antero-cervical nodule that has been developing for one year with past history no contributory. The clinical examination found a subcutaneous formation mobile in relation to the different deep and superficial planes with bilateral angulomandibular micro-lymphadenopathy. Ultrasounds of the soft parts of the neck showed hypoechogenic tissue reminiscent of thyroid tissue, the thyroid was in place. The thyroid hormone profile was normal. In the absence of a functional scintigraphy device, the diagnosis was confirmed with a pathology exam after surgery. We discuss the diagnostic relevance of thyroid heterotopia in front of any anterior nodular formation of the neck.
Hazards of steroid injection: Suppurative extensor tendon rupture
Authors: Colin Yi-Loong Woon, Ee-San Phoon, Jonathan Yi-Liang Lee, Siew-Weng Ng, Lam-Chuan Teoh
Journal: Indian J Plast Surg (2010)
Keywords: tenosynovitis, extensor tendon, infection, tendon rupture
MeSH terms: Case Reports

Local steroid injections are often administered in the office setting for treatment of trigger finger, carpal tunnel syndrome, de Quervain's tenosynovitis, and basal joint arthritis. If attention is paid to sterile technique, infectious complications are rare. We present a case of suppurative extensor tenosynovitis arising after local steroid injection for vague symptoms of dorsal hand and wrist pain. The progression of signs and symptoms following injection suggests a natural history involving bacterial superinfection leading to tendon rupture. We discuss the pitfalls of local steroid injection and the appropriate management of infectious extensor tenosynovitis arising in such situations.
Bone pathologic fracture revealing an unusual association: coexistence of Langerhans cell histiocytosis with Rosai-Dorfman disease
Authors: Boubacar Efared, Asmae Mazti, Badarou Chaibou, Gabrielle Atsame-Ebang, Ibrahim Sory Sidibé, Layla Tahiri, Fatimazahra Erregad, Nawal Hammas, Abdelmajid El Mrini, Hinde El Fatemi, Laila Chbani
Journal: BMC Clin Pathol (2017)
Keywords: langerhans cell histiocytosis, pathology, rosai-dorfman disease
MeSH terms: Case Reports

Background:
The coexistence of Rosai-Dorfman disease (RDD) with Langerhans cell histiocytosis (LCH) is very rare, as to date only 17 cases have been reported in the english literature. The pathophysiology of this uncommon co-occurrence still remains enigmatic and a subject of various speculations.
Case presentation:
We report a case of a 30-year-old female patient who presented with a pathologic fracture of the left proximal femur. Her medical history was unremarkable, there were no fever, skin lesions, lymphadenopathy or other organomegaly at physical examination. X-ray radiograph of the fractured femur showed an isolated and ill-defined osteolytic lesion. The histopathological analysis of biopsies from this lesion were consistent with a combined RDD-LCH of the bone.
Conclusion:
Combined RDD-LCH is a very rare phenomenon, whose pathophysiology still remains unclear and a subject of various speculations.
Pancreatic tail splenunculus: Case report and review of the literature
Authors: Ricky H Bhogal, Andrew Wotherspoon, I Zerizer, Aamir Z Khan
Journal: Int J Surg Case Rep (2019)
Keywords: neuroendocrine tumour, nuclear scintigraphy, pancreas, splenunculus

Introduction:
Mass lesions in the pancreatic tail are increasingly identified upon radiological imaging. However the diagnosis of these lesions can be challenging and impact significantly upon patient management.
Presentation of case:
We report a case of an intrapancreatic accessory spleen initially diagnosed as a neuroendocrine tumour of the pancreas tail following nuclear scintigraphy.
Discussion:
The investigation of solitary pancreatic tail lesions and the potential management paradigms are discussed.
Conclusion:
Solitary lesions within the pancreatic tail should have splenunculus included in the differential diagnosis.