OpenMed/multicare-articles huggingface dataset:
Spondylocostal Dysostosis: A Literature Review and Case Report with Long-Term Follow-Up of a Conservatively Managed Patient
Authors: Brendan R Southam, Adam P Schumaier, Alvin H Crawford
Journal: Case Rep Orthop (2018)
MeSH terms: Case Reports

Introduction:
Patients with spondylocostal dysostosis (SCD) have congenital spine and rib deformities associated with frequently severe thoracic insufficiency and respiratory compromise. The literature is largely composed of case reports and small cohorts, and there is little information regarding adults with this condition. In this report, we describe the natural history of a conservatively treated patient and include quality-of-life issues such as childbearing, athletic participation, and occupational selection.
Case presentation:
We present a patient with SCD who was conservatively treated by a single physician from birth for 31 years. Our patient was capable of a reasonably good quality of life through adulthood, including participation in gymnastics and employment. At age 18, she became pregnant and subsequently terminated the pregnancy due to obstetrical concerns for compromised respiration. She has had intermittent respiratory complaints and occasionally experiences dyspnea with exertion, but this only has limited her during certain activities in the past three years. Currently, she takes naproxen for chronic back pain with periodic exacerbations.
Discussion:
Other cases in the literature have described adult SCD patients who have received nonoperative treatment and achieved a wide range of functional outcomes. This provides some limited evidence to suggest that select patients with SCD may be treated conservatively and achieve a reasonable quality of life. However, close clinical follow-up with these patients is recommended, particularly early on, considering the high rates of infant morbidity and mortality. Chest physiotherapy and early pulmonary care have been associated with favorable outcomes in infancy. Surgery to increase thoracic volume and correct scoliosis has been shown in some cases to improve respiratory function. Treatment depends on the degree of thoracic insufficiency and quality of life. The natural history of SCD remains largely unknown, but some patients are capable of relatively favorable life spans, employment, and participation in athletics.
Severe combined cardiac and neuromuscular toxicity from immune checkpoint blockade: an institutional case series
Authors: Puja Arora, Laura Talamo, Patrick Dillon, Ryan D Gentzler, Trish Millard, Michael Salerno, Craig L Slingluff Jr, Elizabeth M Gaughan
Journal: Cardiooncology (2020)
Keywords: combination immunotherapy, immune related adverse events, myasthenia gravis, myocarditis, myositis

Background:
Immune checkpoint inhibition is part of standard systemic management for many advanced malignancies. Toxicities from this treatment approach are unpredictable, though usually reversible with management per established guidelines. Some patients suffer major morbidity and treatment-related mortality from these agents in an unpredictable manner. Cardiac and neurologic complications are rare, but can result in serious clinical consequences.
Methods:
We describe the presentation, management, and outcomes of eight sequential cases of combined cardiac and neurologic toxicities resulting in severe illness and demonstrating lack of rapid response to immunosuppression.
Results:
Our cohort consisted of six males and two females with an average age of 73.5 years (61-89 years). There were four patients with melanoma, and one patient each with urothelial carcinoma, renal cell carcinoma, breast cancer, and non-small cell lung cancer. Four patients received combination immunotherapy and four patients received monotherapy. The median time to presentation from treatment initiation was 27 days (11-132 days). All patients had a cardiovascular and neurologic toxicity, and most had hepatitis and myositis. The cardiac signs and symptoms were the prominent initial features of the clinical presentation. Each patient was managed by a multidisciplinary team and received a range of immunosuppressive agents. All patients died as a consequence of the immune related adverse events.
Conclusions:
The evaluation of patients with cardiac adverse events from immunotherapy, should include assessment of overlapping toxicities such as myasthenia gravis and myositis. Providers should be aware of the potential for an extended duration of disability and slow improvement for certain toxicities as these expectations may factor prominently in goals of care decisions.
Heterotopic Ossification of the Peroneus Longus Tendon in the Retromalleolar Portion with the Peroneus Quartus Muscle: A Case Report
Authors: Song Ho Chang, Takumi Matsumoto, Koichi Okajima, Masashi Naito, Jun Hirose, Sakae Tanaka
Journal: Case Rep Orthop (2018)
MeSH terms: Case Reports

Heterotopic ossification (HO) is an ectopic formation of the lamellar bone in the soft tissues. Some authors have previously reported HO or calcific tendinitis of the peroneus longus tendon at the level of the cuboid bone, while the HO of the peroneus longus tendon in the retromalleolar portion has not been reported. The purpose of this report is to describe clinical, radiological, and histological features of this rare ossification and its treatment. To the best of our knowledge, this is the first report presenting a case of HO of the peroneus longus tendon, which developed in the retromalleolar portion.
Unexpected Acceleration in Treprostinil Delivery Administered by a Lenus Pro® Implantable Pump in Two Patients Treated for Pulmonary Arterial Hypertension
Authors: Garance Kopp, Anne-Lise Hachulla, Stéphane Noble, Aurélien Bringard, Paola M Soccal, Maurice Beghetti, Frédéric Lador
Journal: Front Med (Lausanne) (2020)
Keywords: implantable pump, internal device, prostacyclin analogs, pulmonary arterial hypertension, treprostinil delivery
MeSH terms: Case Reports

Intravenous treprostinil administration by an implantable pump is an attractive option for pulmonary arterial hypertension (PAH) treatment and is the subject of recent publications. Short-term studies are promising, but there is still a lack of long-term prospective data. We analyzed the treprostinil flow rate administered by the Lenus Pro® implantable pump in 2 patients suffering from PAH during follow-up times of respectively 4.2 and 3 years. The flow rate delivered by the pumps in these 2 patients exceeded the manufacturer admitted margin of error within 2 years and continued to increase to reach, respectively, 158 and 120% of the expected flow rate at the end of the follow up. In one case, the implantable pump had to be removed for this reason. The ex-vivo flow rate of the withdrawn pump determined in the laboratory reached 173% of the predicted value. This correlated with the in-vivo measurement, which suggests a continuous flow increase even after pump removal and without treprostinil use. Spontaneous flow increase from such an implantable pump is a potentially major pitfall, which needs to be identified and actively managed by the responsible clinicians.
Giant polypoid gastric heterotopia in the small intestine in a boy: A case report and literature review
Authors: Jing Cai, Haibo Yu
Journal: Medicine (Baltimore) (2017)
MeSH terms: Choristoma / pathology, Digestive System Surgical Procedures / methods, Gastric Mucosa, Intestinal Diseases / diagnosis, Intestinal Diseases / physiopathology, Intestinal Diseases / surgery, Polyps / diagnosis, Case Reports, Adolescent, Capsule Endoscopy / methods, Diagnosis, Differential, Dissection / methods, Humans, Male, Melena / diagnosis, Melena / etiology, Tomography, X-Ray Computed / methods, Treatment Outcome

Rationale:
Heterotopic gastric mucosa has been described at various locations of the body; however, the polyp composed of heterotopic gastric mucosa in the small intestine is rare.
Patient concerns:
A 15-year-old boy visited us for investigation of recurrent episodes of melena. Capsule endoscopy (CE) revealed a polypoid tumor in the ileum, with an active nearby hemorrhage. Contrast-enhanced computed tomography (CECT) showed a tumor in the right quadrant of the abdomen, with a diameter of about 18 × 14 mm.
Diagnoses:
The patient was diagnosed with polypoid gastric heterotopia.
Interventions:
We performed an operation to resect the lesion.
Outcomes:
The patient recovered smoothly after surgery and was discharged on postoperative day 7 and followed up for 3 months. He has not experienced gastrointestinal intestinal (GI) symptoms up to now.
Lessons:
Giant polypoid gastric heterotopia in the small intestine is extremely rare, which can express as an occasional finding with or without symptoms. Surgical resection is the preferred therapy when symptoms appear.
Massive Calcified Epithelioid Hemangioendothelioma With Multifocal Involvement: An Imaging Diagnosis Dilemma and a Rare Case Report
Authors: Feng Che, Cai Wei Yang, Xue Hu, Qian Li, Yi Wei, Xi Jiao Liu, Bin Song
Journal: Front Oncol (2021)
Keywords: calcification, computed tomography, epithelioid hemangioendothelioma, imaging diagnosis, multifocal involvement
MeSH terms: Case Reports

Epithelioid hemangioendothelioma (EHE) is a rare malignant vascular tumor that develops from vascular endothelial or pre-endothelial cells. More than 60% patients have single-organ involvement, and involvement of multiple organs including the liver, lungs, and bones is extremely rare. The typical radiographic features of EHE include multiple small nodules in both lungs, which are usually located near small- and medium-sized blood vessels and the bronchi, and solitary, multiple, or diffuse lesions located at the hepatic periphery, spreading within the branches of the portal and hepatic veins. Radiologic calcification has been rarely reported in the literature. Here, we firstly described a case of a 53-year-old woman with EHE who presented with lungs, liver, bone, and right hilar lymph node involvement, manifesting as massive calcification on computed tomography. This case reminds physicians that EHE may present with unusual imaging manifestations, like massive calcification, and should be considered during the diagnostic process.
Case Series: COVID-19 in African American Patients With Sarcoidosis
Authors: Michael Manansala, Christian Ascoli, Ana Goico Alburquerque, David Perkins, Mehdi Mirsaedi, Patricia Finn, Nadera J Sweiss
Journal: Front Med (Lausanne) (2020)
Keywords: african american (aa), covid- 19, dmards, sar-cov-2, immunosuppression, sarcoidosis
MeSH terms: Case Reports

Data on the clinical presentation and outcomes of sarcoidosis patients with coronavirus disease 19 (COVID-19) are scarce. In this case series, we identified 5 out of 238 sarcoidosis patients who are enrolled in an ongoing longitudinal observational study who developed COVID-19 during the study period and follow their clinical course. Four patients recovered completely, whereas one patient expired during hospital admission. Our preliminary experience suggests that African American patients with chronic sarcoidosis treated with disease-modifying anti-rheumatic drugs (DMARDs) or anti-tumor necrosis factor (TNF) therapy do not seem to be at increased risk of respiratory or life-threatening complications from severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) compared with the general population, although at the present time, we advocate for maintaining a high level of vigilance and strict follow-up in this patient population.
Unusual gastric band migration outcome: distal small bowel obstruction and coming out per-rectum
Authors: Alkhalifah Bassam
Journal: Pan Afr Med J (2012)
Keywords: laparoscopic adjustable gastric band, access-port infection, band migration, bariatric surgery, small bowel obstruction
MeSH terms: Foreign-Body Migration / complications, Foreign-Body Migration / etiology, Gastroplasty / adverse effects, Intestinal Obstruction / etiology, Intestinal Obstruction / surgery, Rectum / surgery, Case Reports, Endoscopy, Gastrointestinal, Female, Foreign-Body Migration / diagnosis, Foreign-Body Migration / surgery, Humans, Intestine, Small / pathology, Intestine, Small / surgery, Middle Aged, Obesity, Morbid / surgery, Treatment Outcome

We describe a case of unusual gastric band migration outcome. A 54 years old female was submitted to laparoscopic adjustable gastric band in September 2001. In September 2009 she developed access-port infection which needed drainage and access-port removal. Three months later in December 2009 the patient was investigated due to abdominal pain and abdominal distention. X-rays and Abdomen CT revealed migrated gastric band which is completely intraluminal with its connecting tube, causing transient distal small bowel obstruction and subsequently comes out per-rectum. Band erosion and intragastric migration is a late complication that frequently needs surgical removal. There are few reported cases in the literature of migrated gastric band removal by endoscopy. However according to my knowledge, this is the first reported case of migrated gastric band coming out per rectum without need for surgical or enoscoipic removal.
Place of Colistin-Rifampicin Association in the Treatment of Multidrug-Resistant Acinetobacter Baumannii Meningitis: A Case Study
Authors: Dahraoui Souhail, Belefquih Bouchra, Badia Belarj, Rar Laila, Frikh Mohammed, Oumarou Mamane Nassirou, Ibrahimi Azeddine, Charki Haimeur, Abdelhay Lemnouer, Mostafa Elouennass
Journal: Case Rep Infect Dis (2016)

Treatment of Acinetobacter baumannii meningitis is an important challenge due to the accumulation of resistance of this bacteria and low meningeal diffusion of several antimicrobial requiring use of an antimicrobial effective combination to eradicate these species. We report a case of Acinetobacter baumannii multidrug-resistant nosocomial meningitis which was successfully treated with intravenous and intrathecal colistin associated with rifampicin.
Beyond Gonarthrosis in the Elderly: A Case Report of Subchondral Insufficiency Fracture of the Knee
Authors: Mariana Martins, Raquel Araújo, Rosana Pinheiro, Ana Costa, José Luís Carvalho
Journal: Cureus (2023)
Keywords: orthopedic surgery, radiofrequency, rehabilitation, subchondral insufficiency fracture of the knee, subchondral insufficiency fractures
MeSH terms: Case Reports

Subchondral insufficiency fracture of the knee (SIFK) is a non-traumatic condition that has been, historically, associated with the elderly. Early diagnosis and management are essential to prevent evolution to subchondral collapse and secondary osteonecrosis, developing prolonged pain and functional losses. This article presents the case of an 83-year-old patient with severe right knee pain with 15 months of evolution, with sudden onset, and no history of trauma or sprain. Upon observation, the patient presented with a limping gait, antalgic posture with the knee in semi-flexion, pain on palpation of the joint medial line, severe pain on passive mobilization, limited joint range of motion, and a positive McMurray test. The X-ray only demonstrated a gonarthrosis grade 1 in the Kellgren and Lawrence classification with medial compartment affection. Due to the exuberant clinical picture with marked functional compromise, as well as clinical radiological dissociation, MRI was requested to rule out SIFK, which was later confirmed. The therapeutic orientation was then adjusted with an indication for non-weight bearing and analgesia, as well as orientation to an orthopedics consultation to request a surgical evaluation. SIFK is difficult to diagnose and may have an unpredictable outcome due to delayed treatment approaches. This clinical case encourages clinicians to consider subchondral fracture in the differential diagnosis of knee pain when an older patient, with subnormal radiographic findings, reports severe knee pain in the absence of overt traumatic injury.
Colon carcinoma presenting with a synchronous oesophageal carcinoma and Basal cell carcinoma of the skin
Authors: Nidhi Gupta, Rakesh Kapoor, Suresh C Sharma
Journal: ISRN Oncol (2011)
MeSH terms: Case Reports

With advances in diagnostic techniques and treatment modalities, the number of patients identified with colorectal carcinoma who develop multiple primary malignancies during long-term followup has been increasing. We report a patient who developed three histologically distinct malignancies. Primary colon carcinoma treated radically followed by an 8-year disease-free period. The patient then presented with progressive dysphagia and was investigated and diagnosed to have a synchronous multicentric squamous cell carcinoma of the oesophagus and basal cell carcinoma of the skin. There was a simultaneous multicentric recurrence in the colon. This case is worth mentioning because the clustering of three primary malignancies (synchronous and metachronous) is of rare occurrence in a single patient, and, to our knowledge, this is the first report of this combination occurring in the same individual. In addition, the report emphasizes the importance of evaluating patients with known colonic primary neoplasms for synchronous colonic and extracolonic tumors.
Acute abdomen caused by a large solitary jejunal diverticulum that induced a midgut volvulus. Report of a case
Authors: Aradhya Nigam, Faye F Gao, Mark A Steves, Paul H Sugarbaker
Journal: Int J Surg Case Rep (2020)
Keywords: acute abdomen, case report, midgut volvulus, pulsion diverticulum
MeSH terms: Case Reports

Background:
Jejunal diverticula are a rare subtype of false diverticula found in the gastrointestinal tract. When present, they are usually multiple, in the proximal jejunum and asymptomatic. Rarely, they can cause acute complications that can develop into an acute abdomen requiring surgical intervention. We present the rare manifestation of a single jejunal diverticulum causing midgut volvulus and bowel ischemia. Early surgical intervention with small bowel derotation allowed complete recovery.
Methods:
Data regarding the case, operative intervention, and patient follow-up was prospectively accumulated with permission of the patient at an academic institution. All patient identifiers were removed. All research steps were performed under guidance outlined in the SCARE criteria.
Results:
We present the case of a 78-year-old man who presented to our institution with an acute abdomen. CT imaging demonstrated a whirlpool sign without an obvious lead point. The patient was without prior surgical intervention. Urgent exploratory laparotomy revealed a midgut volvulus with associated bowel ischemia and impending infarction secondary to adhesive disease from a large single jejunal diverticulum. Derotation resulted in gradual recovery of bowel vascularity. Resection of the portion of the jejunum containing the diverticulum resulted in full clinical recovery of the patient.
Conclusions:
Complications of jejunal diverticula, although rare, should be considered as part of the differential diagnosis of an acute abdomen of unknown etiology. Urgent surgical intervention was required to avoid a potential catastrophic outcome.
Atypical Presentation of Marantic Endocarditis
Authors: Nina Manian, Priya Arunachalam, Lamees Ibrahim El Nihum, Qasim Al Abri, Roberto Barrios, Mohammed Chamsi-Pasha, Mahesh Ramchandani
Journal: Methodist Debakey Cardiovasc J (2022)
Keywords: antiphospholipid syndrome, aortic stenosis, aortic valve, marantic endocarditis, valve replacement
MeSH terms: Endocarditis / diagnosis, Endocarditis / diagnostic imaging, Endocarditis, Non-Infective / diagnostic imaging, Endocarditis, Non-Infective / etiology, Endocarditis, Non-Infective / surgery, Heart Valve Prosthesis, Case Reports, Adult, Aortic Valve / diagnostic imaging, Aortic Valve / surgery, Humans, Male

We describe a 39-year-old man referred for surgical aortic valve replacement for severe symptomatic aortic stenosis. Intraoperative inspection was unexpectedly consistent with marantic endocarditis. Pathology confirmed nonbacterial thrombotic endocarditis. We present high-resolution intraoperative, diagnostic, and pathology images of nonbacterial thrombotic endocarditis in a patient with antiphospholipid syndrome with atypical presentation.
Systemic sclerosis and silicone breast implant: a case report and review of the literature
Authors: Antonios Psarras, Ioannis Gkougkourelas, Konstantinos Tselios, Alexandros Sarantopoulos, Panagiota Boura
Journal: Case Rep Rheumatol (2014)

Environmentally induced systemic sclerosis is a well-recognized condition, which is correlated with exposure to various chemical compounds or drugs. However, development of scleroderma-like disease after exposure to silicone has always been a controversial issue and, over time, it has triggered spirited debate whether there is a certain association or not. Herein, we report the case of a 35-year-old female who developed Raynaud's phenomenon and, finally, systemic sclerosis shortly after silicone breast implantation surgery.
Renal colic caused by mycotic iliac artery aneurysm
Authors: Anthony Cox, Shian Patel, Jeevan Kumaradevan
Journal: BJR Case Rep (2015)
MeSH terms: Case Reports

A 33-year-old female presented with acute colicky left loin-to-groin pain and microscopic haematuria, with a background of 6 months of muscle and joint pains and diplopia. A CT kidneys/ureters/bladder demonstrated fat stranding surrounding the left ureter, as it passed over the left common iliac vessels. Arterial and delayed phase imaging revealed an obstructed ureter secondary to a left common iliac artery aneurysm, later found to be mycotic. No previous descriptions of a mycotic aneurysm presenting as renal colic have been found in the literature. The diagnosis and management of infective endocarditis and mycotic aneurysm are discussed, with a review of the literature. This serves as a good example of a common presenting complaint occurring secondary to a rare and serious pathology.
Liver Failure of Wilson's Disease With Manifestations Similar to Porphyria and Uncommon ATP7B Gene Mutation: A Case Report and Literature Review
Authors: Ju Zou, Ying-Hao Wang, Ling Wang, Ruo-Chan Chen
Journal: Front Med (Lausanne) (2021)
Keywords: atp7b, wilson's disease, copper storage disease, liver failure, porphyria
MeSH terms: Case Reports

Background: Wilson's disease (WD) is a rare condition; its diagnosis is challenging owing to a wide spectrum of ATP7B genotypes and variable clinical phenotypes, along with environmental factors. Few cases of WD with presentation of skin lesions and acute neurovisceral symptoms have been reported in the literature. To our knowledge, this is the first reported case of WD with an uncommon ATP7B gene mutation and rare symptoms of photosensitivity, sensation abnormality, and skin eruption occurring in a 19-year-old woman. Case presentation: We report the case of a 19-year-old woman with WD presenting with liver failure, skin manifestations, and acute neurovisceral symptoms.The rare mutation in intron 1 of ATP7B (c.51+2T > G) was further confirmed by gene sequencing. The patients' symptoms improved after administration of penicillamine and zinc therapy combined with plasma exchange. She received long-term penicillamine treatment, and her liver function was within the normal range at 1 year after discharge. However, she underwent liver transplantation at 1.5 years after discharge. Conclusions: We present a case of WD with a novel ATP7B gene mutation that may serve as a reference to generalists and specialists in hepatology or neurology of the rare clinical characteristics of WD, to prevent misdiagnosis and aid in the early diagnosis and treatment of the condition.