OpenMed/multicare-articles huggingface dataset:
Management of liver trauma by laparoscopy using infrahepatic inferior vena cava partial clamping: A case report
Authors: Dan Zhang, Ming-Da Tan, Ming-You Zheng, Huai-Zhi Wang, Lin-Kang Xiao
Journal: Front Surg (2023)
Keywords: hemodynamic instability, infrahepatic inferior vena cava clamping, juxtahepatic venous injuries, laparoscopy, liver trauma
MeSH terms: Case Reports

Liver trauma with hemodynamic instability is extremely dangerous. Exploratory surgery after fluid resuscitation is a potentially effective method to save lives. Although there have been great advances in laparoscopic techniques for hepatectomy, laparoscopy is rarely used for liver trauma. According to our previous experience, laparoscopic infrahepatic inferior vena cava (IVC) clamping was a safe and effective technique to reduce central venous pressure (CVP) and control bleeding during hepatectomy. In this article, we described a case of grade V liver trauma that had been managed by an entirely laparoscopic approach using infrahepatic IVC partial clamping, outlining the technique of laparoscopy for liver trauma and the postoperative outcomes.
Safety and efficacy of plasma exchange treatment in children with AQP4-IgG positive neuromyelitis optica spectrum disorder
Authors: Zhichao Li, Lin Wan, Xinting Liu, Jing Wang, Xiuyu Shi, Huanfen Zhou, Quangang Xu, Shihui Wei, Guang Yang
Journal: Front Immunol (2023)
Keywords: aqp4-igg, children, neuromyelitis optica spectrum disorders, plasma exchange, prognosis
MeSH terms: Neuromyelitis Optica / therapy, Case Reports, Cell Separation, Child, Female, Humans, Immunoglobulin G, Plasma Exchange, Treatment Outcome, Immunoglobulin G

Neuromyelitis optica spectrum disorder (NMOSD), a severe demyelinating disease, is rare among children. Plasma exchange (PE) is widely used as a salvage therapy for severe and corticosteroid-unresponsive patients with NMOSD. Presently, there are limited studies on the safety and efficacy of PE in children with NMOSD. Herein, we report the case of six children with NMOSD who received PE along with the outcomes and adverse events. All six children (female, age at onset 4 years 9 months-13 years 2 months) were AQP4-IgG positive and received standard PE using the COM.TEC Cell Separator. The interval between NMOSD onset and PE was 29 days (range 10-98). Only one patient (P3) who received PE 10 days after acute exacerbations exhibited clinical improvement. Her left visual acuity increased from 0.06 to 0.6 (spectacle-corrected visual acuity was 1.0) and her EDSS score decreased from 4 to 3 points. The other five patients had no clinical improvement and no EDSS scores changes after PE. Adverse events included rashes (P1, P3), acute non-occlusive thrombosis of the internal jugular vein (P1), and thrombocytopenia (P2). In conclusion, the timing of PE initiation as a rescue therapy for severe and corticosteroid-unresponsive pediatric AQP4-IgG positive NMOSD may be crucial to treatment efficacy, and early initiation of PE may be associated with a better outcome. Furthermore, PE has the potential risk for clinically significant adverse effects that should be considered before initiating the therapy and should be weighed against potential benefits.
A case of lymphoma simulating primary sternal tumour
Authors: Atalay Sahin, Fatih Meteroglu, Sevval Eren, Ayse Nur Keles
Journal: APSP J Case Rep (2014)
Keywords: lymphoma, prosthesis, sternum
MeSH terms: Case Reports

Any mass on the chest wall may not always be the primary local pathology. A case of lymphoma with an aggressive course may involve the sternum through local invasion and can mimic a chest wall tumour. A 15-year-old boy with mediastinal lymphoma presented with a sternal mass. Partial sternectomy with replacement by methyl methacrylate prosthesis was performed.
Case Report: Whole exome sequencing reveals a novel frameshift deletion mutation p.G2254fs in COL7A1 associated with autosomal recessive dystrophic epidermolysis bullosa
Authors: Shamsudheen Karuthedath Vellarikkal, Rijith Jayarajan, Ankit Verma, Sreelata Nair, Rowmika Ravi, Vigneshwar Senthivel, Sridhar Sivasubbu, Vinod Scaria
Journal: F1000Res (2016)
Keywords: collagen vii mutation, dystrophic epidermolysis bullosa, simplex whole exome sequencing

Dystrophic epidermolysis bullosa simplex (DEB) is a phenotypically diverse inherited skin fragility disorder. It is majorly manifested by appearance of epidermal bullae upon friction caused either by physical or environmental trauma. The phenotypic manifestations also include appearance of milia, scarring all over the body and nail dystrophy. DEB can be inherited in a recessive or dominant form and the recessive form of DEB (RDEB) is more severe. In the present study, we identify a novel p.G2254fs mutation in COL7A1 gene causing a sporadic case of RDEB by whole exome sequencing (WES). Apart from adding a novel frameshift Collagen VII mutation to the repertoire of known mutations reported in the disease, to the best of our knowledge, this is the first report of a genetically characterized case of DEB from India.
Case Report: Neonatal Multi-System Inflammatory Syndrome Associated With SARS-CoV-2 Exposure in Two Cases From Saudi Arabia
Authors: Lana A Shaiba, Adnan Hadid, Khalid A Altirkawi, Hind M Bakheet, Aminah Mohammed Alherz, Shaik Asfaq Hussain, Badr H Sobaih, Abdulrahman M Alnemri, Rana Almaghrabi, Medina Ahmed, Maria A Arafah, Abdullah Jarallah, Elham Essa Bukhari, Fahad A Alzamil
Journal: Front Pediatr (2021)
Keywords: sars-cov-2, inflammatory syndrome, multi-system, neonatal, vertical transmission
MeSH terms: Case Reports

Background: Vertical transmission of SARS-CoV-2 is under investigation. A few reports suggest the possibility of SARS-CoV-2 transmission from mothers to their neonates. Most neonates have mild symptoms, but some develop multisystem involvement and shock. Case Presentation: We report two cases of possible SARS-CoV-2 vertical transmission from mothers to their neonates. The first case shows maternal infection with SARS-CoV-2 in the second trimester followed by recurrent infection in the third trimester right before the delivery. The infant demonstrated respiratory distress soon after delivery along with myocardial dysfunction and multi-organ system involvement. The second case shows maternal infection with SARS-COV-2 at the time of delivery with preterm labor secondary to placental abruption, with that delivery resulting in the preterm neonate requiring non-invasive ventilation with multisystem involvement in the context of persistently positive SARS-COV-2 PCR in the neonate. Both neonates were treated with IVIG along with steroids. Both neonates recovered fully and were discharged and allowed to go home. Conclusion: In neonates, COVID-19 usually presents as an asymptomatic or mild illness; some may develop a more severe course. Our two cases, however, demonstrate that multisystem involvement, although rare, is possible. This report also supports the current evidence of possible vertical transmission from mothers to their neonates. This multisystem involvement might be underreported and should be considered in neonates with respiratory distress when born to mothers suffering of COVID-19. Clinical Trial Registration: [KSUMC], identifier [No#98763298].
Multicorrection Goldenhar syndrome (facio-auriculo-vertebral dysplasia): a rare follow-up case of 12-year-old female
Authors: Ashish Ramesh Varma, Revat Jagdish Meshram, Anuj Ramesh Varma, Anubhuti Sunil Dixit, Siddhart Sunil Zabak, Chaitanya Ajay Kulkarni
Journal: Pan Afr Med J (2021)
Keywords: goldenhar syndrome, cardiac syndromes, case report, facio-auriculo-vertebral dysplasia, female
MeSH terms: Goldenhar Syndrome / diagnosis, Scoliosis / etiology, Spinal Fusion, Case Reports, Abnormalities, Multiple / physiopathology, Child, Female, Follow-Up Studies, Goldenhar Syndrome / physiopathology, Growth Disorders / etiology, Humans, Kyphosis / etiology, Mastoiditis / etiology, Scoliosis / surgery

The MSX homeobox genes cause Goldenhar syndrome (GHS) or facio-auriculo-vertebral dysplasia, a rare developmental defect. Its exact etiology is still unknown. Its incidence lies between 1: 3500 and 1: 5600. In 85% of the cases, the unilateral face is affected. Typical clinical findings in a classic GHS include eye disorders, ear irregularities (with or without hearing loss), facial impairments, dental and oral ailments, cardiac syndromes, central nervous system (CNS) involvement, trachea and lung malformations, kidney and gastrointestinal defects, and skeletal alterations. This case report presents a follow-up case of Goldenhar Syndrome in a 12-year-old female, with no relevant family history, diagnosed with anotia on the left side, cyanosis, and facial asymmetry at birth. She presented with moderate growth failure, bilateral sclerosing mastoiditis and kyphoscoliosis. She underwent posterior scoliosis correction posterior instrumented fusion from D1 to D11.
Adenopathies: A Confusing Presentation of Primary Biliary Cholangitis
Authors: Catarina Maciel, Daniela Augusto, Nadia Tenreiro, Filipe Martins
Journal: Cureus (2023)
Keywords: adenopathy, asthenia, lymphadenopathy, primary biliary cholangitis, pruritus
MeSH terms: Case Reports

Primary biliary cholangitis (PBC) is an autoimmune disease in which the intrahepatic bile ducts are destroyed. Its symptoms include chronic fatigue, pruritus, steatorrhea, and jaundice, with variable clinical course. We are introducing a case of a 65-year-old woman with anorexia, weight loss, asthenia, and pruritus. The imaging studies revealed dilatation of the intrahepatic and common bile ducts and adenopathies at the level of the hepatoduodenal ligament, histologically compatible with reactive lymphadenitis. After the exclusion of neoplasia, she was referred to Internal Medicine where positivity was obtained for anti-mitochondrial autoantibodies suggestive of PBC. After the initiation of therapy, there was a resolution of the clinical symptoms and the adenopathies were no longer detected in subsequent studies. The authors intend to highlight this case, especially due to the presence of adenopathies and constitutional symptoms where PBC should also be considered, as a differential diagnosis.
Schnitzler's disease as an important differential diagnosis of chronic recurrent multifocal osteomyelitis: a case report
Authors: Kathrin Schrödl, Axel Nigg, Marcus Treitl, Michael Flaig, Annette Jansson, Hendrik Schulze-Koops, Christiane Reindl
Journal: Case Rep Rheumatol (2012)

Introduction. At first sight, chronic recurrent multifocal osteomyelitis (CRMO) and Schnitzler's disease are diagnoses of exclusion and can be similar in their manifestation. Methods. In this paper we present the reevaluation of the 13-year-old diagnosis of chronic recurrent osteomyelitis of a 58-year-old man with chronic ostealgia, night sweat, and pruritic urticarial lesions on the extremities and trunk. For further examination, we performed blood analysis, bone and skin biopsies, CT scans, and magnetic resonance imaging. Results. Laboratory findings showed increased inflammation parameters. Magnetic resonance imaging (MRI) revealed a diffuse bone marrow infiltration. A bone and skin biopsy showed a sclerotic bone marrow involvement and a superficial dermal and perivascular infiltrate of neutrophils. Based on these findings, the diagnosis of Schnitzler's disease was made. Conclusion. Here, we want to present Schnitzler's disease as an important differential diagnosis to CRMO in adults presenting with signs suggestive of CRMO.
Iatrogenic peripheral pulmonary air embolism following intravenous contrast administration for CT pulmonary angiography: proposal of the "double bronchus sign"
Authors: Joanna Moser, Sarah Sheard, Jaymin Patel, Charlie Sayer, Brendan Madden, Ioannis Vlahos
Journal: BJR Case Rep (2017)
MeSH terms: Case Reports

We present a case of iatrogenic extensive air embolism in the peripheral pulmonary arterial tree following intravenous contrast injection for a CT pulmonary angiogram performed to investigate chest pain in a 25-year-old female patient. Small volumes of iatrogenic air embolism following contrast injection are not infrequently encountered incidentally in the central vasculature (brachiocephalic veins, superior vena cava, right cardiac chambers and main pulmonary arteries). To our knowledge, however, this is the only case of extensive peripheral pulmonary arterial air embolism on CT that has been reported in the literature. Despite the extent of peripheral air, this potentially clinically significant complication was relatively inconspicuous at CT interpretation. A new radiological sign, the "double bronchus sign", is proposed as a useful diagnostic tool. In addition to discussing the imaging features, important safety considerations and principles of immediate management, relevant to all radiologists, are addressed.
Bilateral anterior congenital radial head dislocation in adults: a case report and literature review
Authors: Jiahao Gao, Jinshuo Tang, Menglong Li, Haitao Li, Yachen Peng, Chenyu Wang, Tong Liu, Jianlin Zuo
Journal: Front Surg (2023)
Keywords: annular ligament reconstruction, case report, congenital radial head dislocation, open reduction, ulnar osteotomy
MeSH terms: Case Reports

Objective:
Congenital dislocation of the radial head (CRHD) is a rare condition, with bilateral anterior cases being even less common worldwide. Only a few cases had residual pain after adulthood, even when left untreated. Herein, we describe an adult case of bilateral anterior CRHD with significant pain and snapping during motion. The aim of this study was to report the physical and radiological findings, treatment methods, and short-term outcomes of our case and to review adult CRHD cases in the literature.
Patient:
A 21-year-old male patient presented to our hospital with chief complaints of snapping and exacerbated pain during motion in his left elbow.
Diagnoses and interventions:
Detailed medical history and physical examination results were recorded. Radiographic examinations were performed on the bilateral elbow, and the diagnosis of bilateral anterior congenital radial head dislocation was confirmed. To relieve the pain and snapping in the left elbow, we performed open reduction and fixation of the radial head with annular ligament reconstruction and ulnar osteotomy. Postoperatively, the elbow rested at 90° flexion with a cast for 16 weeks, and the K-wire was removed on the 10th week; afterward, active functional exercises were performed.
Outcomes:
The patient was followed-up for 1 year. The pain in his left elbow was relieved with a reduction in the visual analog scale score from 7 to 3. The range of motion of the left elbow was changed from 0° to 135° (preoperative) to -5° to 120° (postoperative) (extension-flexion) without any snapping. However, restrictions in external rotation have not yet been fully resolved. Further physical rehabilitation is required.
Conclusion:
When managing patients with congenital radial head dislocation, the contralateral elbow should be evaluated to identify potential bilateral cases. Surgical options should be discussed with adult patients only for the strong need for functional improvement, although the outcomes may not be fully satisfactory.
Case Report: Bilateral mandibular buccal bifurcation cysts
Authors: Ashwag Aloyouny, Hamad Albagieh, Soad Mansour, Fahmy Mobarak
Journal: F1000Res (2020)
Keywords: bilateral mandibular cysts, buccal bifurcation cysts, children, oral cyst
MeSH terms: Mandibular Diseases / diagnostic imaging, Odontogenic Cysts / diagnostic imaging, Case Reports, Research Support, Non-U.S. Gov't, Review, Child, Humans, Male, Molar / diagnostic imaging

Buccal bifurcation cyst (BBC) is a rare inflammatory odontogenic cyst, which commonly affects children in the first decade of life. We report a case of a seven-year-old healthy boy with bilateral BBC, which involved unerupted incomplete permanent mandibular first molars. A review of the literature in English language revealed few similar cases. We reviewed 16 manuscripts of bilateral mandibular BBC, reporting a total of 20 cases since 1970. The clinical features of bilateral mandibular BBC summarized here could assist specialists with an accurate diagnosis and provide patients with optimal management.
Pancreatic anastomosis disruption seven years postpancreaticoduodenectomy
Authors: Walid Faraj, Zaki Abou Zahr, Deborah Mukherji, Ahmad Zaghal, Mohamed Khalife
Journal: Case Rep Med (2010)
MeSH terms: Case Reports

We are reporting a case of a 22 year-old female patient, who underwent a pancreaticoduodenectomy previously for a solid-pseudopapillary neoplasm of the pancreas and was re-admitted seven years later with a pancreatic leak following disruption of the pancreatico-jejunal anastomosis. Exploratory laparotomy revealed a large collection at the level of the pancreatic anastomosis with major disruption of the pancreatico-jejunal anastomosis. The pancreatic stump was refreshed as well as the jejunal site and a duct to mucosa anastomosis was performed. She remains well with a follow up of 18 months.
Monophasic Synovial Sarcoma of Prostatic Fascia: Case Report and Literature Review
Authors: Lucio Olivetti, Luigi Benecchi, Serena Corti, Carlo Del Boca, Matteo Ferrari, Pietro Sergio, Luisa Bercich, Giulia Tanzi
Journal: Case Rep Urol (2015)

Synovial sarcoma (SS) primarily occurs in the para-articular soft tissue of the lower extremities in young adults and it is extremely rare in the prostatic region. We report a case of a 46-year-old man who presented with urinary retention. Pelvic ultrasound (US) examination, computed tomography (CT), and magnetic resonance imaging (MRI) demonstrated an 8.5 cm mass that appeared to originate in the prostatic fascia of the right lobe. Preoperative prostatic ultrasound transrectal needle biopsy revealed mesenchymal neoplastic tissue. Patient underwent surgery. The final pathologic findings were consistent with the diagnosis of monophasic synovial sarcoma.
Pineal and leptomeningeal metastases from a parotid carcinoma ex pleomorphic adenoma
Authors: Olivia Francies, Dimitrios Paraskevopoulos, Ganesalingam Narenthiran, Kim Piper, Amen Sibtain, Curtis Offiah, Anant S Krishnan
Journal: BJR Case Rep (2016)
MeSH terms: Case Reports

Carcinoma ex pleomorphic adenoma (CEPA) is an uncommon complication of an untreated pleomorphic adenoma (PA), but one that has a life-threatening significance. This case report documents the clinical, radiological and histopathological features of an extremely rare case of biopsy-proven pineal metastasis, with cerebellopontine and leptomeningeal spread, from CEPA of the parotid gland in spite of the patient having undergone parotidectomy, ipsilateral neck dissection and adjuvant radiotherapy. In spite of the current surgical and oncological treatment of CEPA, the rates of recurrence and distant metastases are high, with a subsequently poor prognostic outcome in most patients. Distant spread is usually to the bones and the lungs; however, more unusual locations have been documented. Our finding of pineal metastasis from CEPA has not previously been reported in the literature. Although this is a rare complication of an unusual condition, the aggressive behaviour of these malignancies warrants close clinical follow-up, with a low threshold for re-imaging and investigation if indicated.
Eye Manifestations of Shprintzen-Goldberg Craniosynostosis Syndrome: A Case Report and Systematic Review
Authors: Jamie H Choi, Rachel Li, Rachel Gannaway, Tahnee N Causey, Anna Harrison, Natario L Couser
Journal: Case Rep Genet (2020)
MeSH terms: Case Reports

Shprintzen-Goldberg craniosynostosis syndrome (SGS) is a rare autosomal dominant condition that was first documented in literature in 1982. The disorder is caused by pathogenic variants in the proto-oncogene SKI gene, a known suppressor of TGF-β activity, located on chromosome 1p36. There is considerable phenotypic overlap with Marfan and Loeys-Dietz syndromes. Common clinical features of SGS include craniosynostosis, marfanoid habitus, hypotonia, dysmorphic facies, cardiovascular anomalies, and other skeletal and connective tissue abnormalities. Ocular manifestations may include hypertelorism, downslanting palpebral fissures, proptosis, myopia, and ectopia lentis. We describe a 25-year-old male with the syndrome. Genetic analysis revealed a novel c.350G>A (p.Arg117His) de novo variant, which was predicted to be pathogenic by the CTGT laboratory. The patient presented with dysmorphic features, marfanoid habitus, severe joint contractures, mitral valve insufficiency, aortic root dilatation, and a history of seizures. His ocular manifestations included hypertelorism, downslanting palpebral fissures, bilateral ptosis, and high myopia. Ophthalmic manifestations are an integral component of the syndrome; however, they have not been well characterized in the literature. From a systematic review of previously published cases to date, we summarize the eye and ocular adnexa manifestations reported.
Neurologic and Thrombotic Complications in the Setting of Chronic Nitrous Oxide Abuse
Authors: Erin Meier, Monica Malviya, Sukhdeep Kaur, Jacklynn Ibrahim, Andrew Corrigan, Andrew Moawad, Sathya Alekhya Bukkuri, Joshua Trebach, Mark K Su, Manju Pillai
Journal: Case Rep Med (2023)
MeSH terms: Case Reports

Nitrous oxide is a commonly used inhaled anesthetic for medical procedures, as well as a drug of abuse throughout the world. Excessive nitrous oxide inhalation has been shown to cause a functional vitamin B12 deficiency and hyperhomocysteinemia, which can lead to peripheral neuropathy and hypercoagulability, respectively. While the development of neurologic toxicity from chronic nitrous oxide abuse (i.e., encephalopathy, myelopathy, and neuropathy) has been previously described, the thrombotic potential of chronic nitrous oxide abuse is less known. The authors report two cases of nitrous oxide abuse leading to both neurologic and thrombotic complications.
A Novel Nonsense MMP21 Variant Causes Dextrocardia and Congenital Heart Disease in a Han Chinese Patient
Authors: Zhuang-Zhuang Yuan, Liang-Liang Fan, Zi-Chen Jiang, Yi-Feng Yang, Zhi-Ping Tan
Journal: Front Cardiovasc Med (2020)
Keywords: mmp21, congenital heart defect (chd), dextrocardia, stopgain variant, whole exome sequencing
MeSH terms: Case Reports

The position and morphology of human internal organs are asymmetrically distributed along the left-right axis. Aberrant left-right patterning in the developing embryo can lead to a series of congenital laterality defects, such as dextrocardia and heterotaxy syndrome. Laterality defects are a genetic condition; however, pathogenic genetic lesions are found in only one-fifth of patients. In this study, whole-exome sequencing was conducted for 78 patients with laterality defects. We identified a novel stopgain variant in MMP21 (c.G496T; p.G166*) in a Chinese patient with mirror-image dextrocardia. This variant caused a truncated MMP21 mRNA containing only the signal peptide and propeptide, while the coding sequence of matrix metalloproteinase-21 was almost entirely absent. To the best of our knowledge, this novel variant is the first homozygous stopgain variant identified in dextrocardia patients, and the first MMP21 variant found in East Asia. Our findings expand the spectrum of MMP21 variants and provide support for the critical role of MMP21 during left-right patterning in the Han Chinese population.