OpenMed/multicare-articles huggingface dataset:
Sickle Cell Beta-Plus Thalassemia with Subcapsular Hematoma of the Spleen
Authors: Suyash Dahal, Sumit Dahal, Dipesh K C Ghimire, Ebad Ur Rahman, Eliza Sharma
Journal: Case Rep Hematol (2017)
MeSH terms: Case Reports

While splenic complications like hypersplenism, sequestration crisis, and infarction are commonly reported in sickle cell variants like sickle cell beta-plus thalassemia, splenic rupture with hematoma is rare. We present a case of a 32-year-old young male who presented with dull left upper quadrant pain who was found to have multiple subcapsular splenic lacerations and hematoma on abdominal imaging. Hemoglobin electrophoresis confirmed sickle cell beta-plus thalassemia in the patient. There was no history of trauma, and rest of the workup for possible cause of spontaneous rupture of spleen was negative. With the patient refusing splenectomy, he was managed conservatively. Clinicians need to be aware of this rare complication of sickle cell variants.
Primary oral malignant melanoma: two case reports and review of literature
Authors: Neeraj Sharma
Journal: Case Rep Dent (2012)

Primary malignant melanoma of the oral cavity is a rare neoplasm. The tumors tend to metastasize or locally invade tissue more readily than other malignant tumors in the oral region. The survival of patients with mucosal melanomas is less than for those with cutaneous melanomas. Tumor size and metastases are related to the prognosis of the disease. Early detection, therefore, is important.
Cystic dystrophy of the duodenal wall in heterotopic pancreas: an atypical case in non-alcoholic female
Authors: Marco Di Serafino, Rosa Severino, Raffaela Brigida, Enrico Scarano
Journal: BJR Case Rep (2016)
MeSH terms: Case Reports

Cystic dystrophy of the duodenal wall in heterotopic pancreas, recently described as paraduodenal pancreatitis, is a rare condition characterized by multiple cysts or pseudocysts located in the submucosa or muscularis propria of a thickened duodenal wall. They result from multiple episodes of obstruction of the small ducts in aberrant pancreatic islets. Cystic dystrophy of the duodenal wall in heterotopic pancreas usually affects alcoholic males, but here we present the case of a female without a history of alcohol abuse who was referred to our emergency department with abdominal pain and vomiting. She was treated by a pancreas-preserving surgical approach, thanks to a proper pre-operative differential diagnosis. Even though differentiating this benign condition from pancreatic cancer is a challenge, some characteristic findings on multidetector CT scan and MRI/MR cholangiopancreatography, such as a thickened duodenal wall containing cysts and sheet-like tissues in the pancreaticoduodenal groove, could lead to the correct diagnosis.
Klebsiella pneumoniae Liver Abscess and Metastatic Endophthalmitis
Authors: Jason T Wells, Catherine R Lewis, Omar K Danner, Kenneth L Wilson, L Ray Matthews
Journal: J Investig Med High Impact Case Rep (2015)
Keywords: klebsiella pneumoniae, liver abscess, metastatic endophthalmitis, percutaneous drainage

Introduction. Klebsiella pneumoniae is a well-known cause of liver abscess. Higher rates of liver abscess associated with Klebsiella pneumoniae are seen in Taiwan. Metastatic endophthalmitis is a common complication associated with a poor prognosis despite aggressive therapy. Case Report. We report a case of a 67-year-old Korean female with Klebsiella pneumoniae liver abscess. The patient developed metastatic endophthalmitis and ultimately succumbed to her disease despite aggressive medical and surgical treatment. Conclusion. Dissemination of Klebsiella pneumoniae is associated with significant morbidity and mortality. Liver abscesses preferably should be treated with percutaneous drainage, but surgical treatment is needed in some cases. Metastatic spread to the eye is a common complication that must be treated aggressively with intravenous antibiotics and surgical intervention if necessary.
Steroid-resistant nephrotic syndrome associated with certain SGPL1 variants in a family: Case report and literature review
Authors: Siying Yang, Yonghua He, Jianhua Zhou, Huiqing Yuan, Liru Qiu
Journal: Front Pediatr (2023)
Keywords: sgpl1 gene mutation, clinical phenotype, genotype, proteinuria, steroid-resistant nephrotic syndrome

Objectives:
Steroid-resistant nephrotic syndrome (SRNS) is a clinical syndrome characterized by the lack of response to standard steroid therapy, usually progressing to end-stage renal disease. We reported two cases of female identical twins with SRNS caused by SGPL1 variants in one family, reviewed the relevant literature, and summarized their clinical phenotypes, pathological types, and genotypic characteristics.
Methods:
Two cases of nephrotic syndrome caused by SGPL1 variants were admitted to Tongji Hospital, affiliated with Tongji Medical College of Huazhong University of Science and Technology. Their clinical data were retrospectively collected, and the peripheral blood genomic DNA was captured and sequenced by whole exome sequencing. Related literature published in PubMed, CNKI, and Wan fang databases was reviewed.
Results:
We described two Chinese identical twin girls with isolated SRNS due to compound heterozygous variants in the SGPL1 (intron4 c.261 + 1G > A and intron12 c.1298 + 6T > C). The patients were followed up for 60.0 months and 53.0 months, respectively, having no extra-renal manifestations. They all died due to renal failure. A total of 31 children with SGPL1 variants causing nephrotic syndrome (including the reported two cases) were identified through a literature review.
Conclusions:
These two female identical twins were the first reported cases of isolated SRNS caused by SGPL1 variants. Almost all homozygous and compound heterozygous variants of SGPL1 had extra-renal manifestations, but compound heterozygous variants in the intron of SGPL1 may have no obvious extra-renal manifestations. Additionally, a negative genetic testing result does not completely rule out genetic SRNS because the Human Gene Mutation Database or ClinVar is constantly being updated.
Management of Fournier's gangrene with skin grafting by bagging technique of testes: case report
Authors: Yasir Ali AlShehri, Hiba AlBurshaid, Layan AlBassam, Khalid AlMutairi
Journal: GMS Interdiscip Plast Reconstr Surg DGPW (2019)
Keywords: bagging technique, fournier, gangrene, skin graft, testes
MeSH terms: Case Reports

Aim: To share our experience with the management of Fournier gangrene (FG) using the bagging technique of the testes, and to highlight the importance of implementing a multidisciplinary approach in managing FG. Case presentation: A 58-year-old male with type 2 diabetes mellitus (DM) was brought to the emergency department (ED) with necrotizing fasciitis involving the genitalia; he was managed in the ED with Intravenous (IV) fluid resuscitation and IV antibiotics. The surgical team was consulted and multiple debridement procedures were done. Healthy granulation tissue was formed within one month of the serial debridement. A split-thickness skin graft using bagging technique of the testes and vacuum-assisted closure (VAC) were applied. The patient was reassessed one year following presentation, and a result with a near normal appearance was achieved with complete preservation of functional outcome. Conclusion: FG is a type of necrotizing fasciitis that could be managed either conservatively with IV antibiotics and/or hyperbaric oxygen, or surgically by debridement and applying VAC. In our case, the testes were debrided and bagging technique of the testes was used. It's believed that with this technique, the overall cosmetic and functional results are superior.
Streptococcus mitis Chorioamnionitis after Dental Scaling and Oral Sex
Authors: Boshra Sara Hosseini, Jennifer Hunt
Journal: Case Rep Obstet Gynecol (2020)
MeSH terms: Case Reports

Background:
Oral sex is postulated to be a risk factor for the introduction of bacteria into the amniotic cavity. Common oropharyngeal bacteria have been implicated in reports of second trimester chorioamnionitis via ascending vaginal transmission following oral sex. Dental scaling can also introduce these pathogens into the blood stream, allowing hematogenous spread of oral pathogens to the fetoplacental unit in pregnant patients.
Case:
We report a case of Streptococcus mitis chorioamnionitis at 21 weeks and 5 days' gestation in a patient whose only risk factors were recent dental scaling and recent oral sex with a partner known to have periodontal disease.
Conclusion:
Bacterial chorioamnionitis should be considered in the differential diagnosis of preterm labour. Oral sex and dental procedures may be risk factors for chorioamnionitis.
A Case of Heterotopic Pancreatic Tissue Discovered in the Distal Esophagus
Authors: Dema Shamoon, Vanessa Sostre, Varun Patel, Ariy Volfson
Journal: Case Rep Gastrointest Med (2020)
MeSH terms: Case Reports

Heterotopic pancreas (HP) is a congenital abnormality that represents ectopic pancreatic tissue that does not have anatomic, vascular, or ductal continuity. The prevalence of HP is 0.55% to 13.7% on autopsy, 0.2% to 0.5% of abdominal operations, and 0.9% of gastrectomies. It is commonly found in the stomach, duodenum, and proximal jejunum. Only 15 cases have been reported in the medical literature regarding involvement of the esophagus. Treatment depends on symptoms and location. In asymptomatic patients, simple observation may be sufficient; however, in those who are symptomatic, surgery may be warranted. We present a case of a 70-year-old male with heartburn, nausea, and abdominal bloating who underwent a diagnostic esophagogastroduodenoscopy (EGD) and was found to have HP on histology in the distal esophagus. In our case, symptoms were treated conservatively and successfully with a proton pump inhibitor (PPI).
Abdominal compartment syndrome during hip arthroscopy for an acetabular fracture: a case report
Authors: Tomoharu Shakuo, Kiyoko Bito, Seiichi Yasuda, Chie Asagi
Journal: JA Clin Rep (2017)
Keywords: abdominal compartment syndrome, fluid extravasation, hip arthroscopy

Background:
We encountered a case of abdominal compartment syndrome during hip arthroscopic surgery, caused by the irrigation fluid flowing into the peritoneal cavity.
Case presentation:
A 47-year-old male patient with the acetabulum fracture underwent open reduction and internal fixation with hip arthroscopy. Hypothermia, increased airway pressure (under volume-controlled ventilation) and oliguria were observed during the operation, and arterial blood gas analysis showed decreased oxygenation and metabolic acidosis. Abdominal distention was observed, and a postoperative CT revealed accumulation of a large volume of irrigation fluid in the peritoneal cavity and retroperitoneum. The patient was diagnosed as having abdominal compartment syndrome and treated by percutaneous peritoneal drainage. His subsequent course was uneventful, and he was discharged 8 weeks after the operation. Intraperitoneal extravasation of irrigation fluid may occur during hip arthroscopic surgery, and is more likely to occur in the presence of an injury.
Conclusion:
Anesthesiologists should be aware of the possible occurrence of the abdominal compartment syndrome during hip arthroscopic surgery and ensure that it is detected early.
Case Report of a Tongue-Type Calcaneal Fracture
Authors: Kylie T Callan, Michael Head, Gregg Pickett, Ronald Rivera
Journal: J Educ Teach Emerg Med (2023)

Calcaneus fractures make up only 2% of all fractures, and tongue-type calcaneus fractures represent 25-40% of all calcaneus fractures. While rare, tongue-type calcaneus fractures can put the superficial soft tissue at risk for necrosis and other complications, creating a surgical emergency. This case report describes the care of a patient who presented to a remote island critical-access emergency room after a fall from height. He described severe, sharp pain in the heel and was found to have tenting and blanching of the overlying skin near the injury. These findings suggested the soft tissues were at high risk for necrosis if not treated immediately. An X-ray confirmed a tongue-type calcaneus fracture. The patient was splinted in plantar flexion and transported by helicopter to a mainland hospital capable of performing the appropriate surgical reduction. The patient underwent open reduction internal fixation of the calcaneus, relieving pressure on the skin. He tolerated the procedure well, and there were no complications. He was discharged the day after surgery with outpatient follow-up. His case was prolonged and required multiple procedures to ultimately achieve appropriate healing. This case illustrates the importance of recognizing fractures presenting with skin involvement since surgical emergencies require prompt intervention to reduce the risk of serious complications such as open fracture from skin breakdown, poor healing, and a slow return to normal activities. It also emphasizes the importance of advocating for expedient patient care to increase the odds of a good outcome and ensure patients are given high-quality care.
Topics:
Calcaneus fracture, tongue-type calcaneus fracture, fall from height, axial loading, fracture complications, case report.
Bone Marrow Aspirate Clot: A Useful Technique in Diagnosis and Follow-Up of Hematological Disorders
Authors: Lucas Oliveira Cantadori, Rafael Dezen Gaiolla, Ligia Niero-Melo, Cristiano Claudino Oliveira
Journal: Case Rep Hematol (2019)
MeSH terms: Case Reports

Bone marrow biopsy is a diagnostic tool largely used in the evaluation of a broad number of disorders that could affect the hematopoietic system. Differently, bone marrow aspirate clot technique is rarely performed even though it has been described in literature. Here, we highlight the utility of the bone marrow aspirate clot, exemplifying through the discussion of three clinical cases in which this technique was used for diagnosis and follow-up purposes: megaloblastic hemopathy, multiple myeloma, and chronic lymphocytic leukemia. Bone marrow clot analysis increases sensitivity to diagnose hemopathies and offers the possibility of morphological evaluation and anatomopathological study, with the advantage of not needing decalcification processes, hence improving antigenic expression in immunohistochemical and FISH techniques. It is an easy-to-perform technique, offering a quick, reliable, and more comfortable procedure for patients.
Neovascular Glaucoma from Ocular Ischemic Syndrome Treated with Serial Monthly Intravitreal Bevacizumab and Panretinal Photocoagulation: A Case Report
Authors: Hassaan Asif, Zhuangjun Si, Steven Quan, Pathik Amin, David Dao, Lincoln Shaw, Dimitra Skondra, Mary Qiu
Journal: Case Rep Ophthalmol Med (2022)
MeSH terms: Case Reports

Purpose:
To describe a case of open-angle neovascular glaucoma (NVG) secondary to ocular ischemic syndrome (OIS) treated with a planned series of 6 monthly anti-VEGF injections with interspersed panretinal photocoagulation (PRP) sessions. We term this treatment protocol the Salvaging Conventional Outflow Pathway in Neovascular Glaucoma (SCOPING) Protocol, and this is our (MQ and DS) standard of care for all NVG patients presenting with partially or completely open angles.
Case:
A 66-year-old man's right eye had a visual acuity of 20/50, intraocular pressure (IOP) of 42 mmHg on 0 IOP-lowering medications, and neovascularization of the iris and angle with no peripheral anterior synechiae. Fundoscopy revealed midperipheral dot-blot hemorrhages without diabetic retinopathy or vein occlusion. Fluorescein angiography revealed peripheral retinal nonperfusion in both eyes. The patient was diagnosed with open-angle NVG secondary to OIS and treated with 6 serial monthly anti-VEGF injections interspersed with 4 PRP sessions, after which his anterior segment neovascularization regressed and IOP normalized on 0 medications. Ten weeks after the last injection, the anterior segment neovascularization and elevated IOP recurred, so he underwent 4 more monthly anti-VEGF injections and 4 PRP sessions, after which his anterior segment neovascularization regressed and his IOP normalized on 0 medications. However, 6 weeks after the last injection, the anterior segment neovascularization and elevated IOP again recurred, so he was resumed on a third course of lifetime monthly anti-VEGF injections, which may be continued in perpetuity.
Conclusion:
The patient's NVG was quiescent while under the protection of serial anti-VEGF injections with interspersed PRP; however, the disease recurred each time injections were stopped. Therefore, in patients with open-angle NVG secondary to OIS, serial monthly anti-VEGF injections may be necessary combined with PRP to suppress underlying neovascular drive and regress anterior segment neovascularization, maintain physiologic IOP, and prevent synechial angle closure.
A Chinese Case of Cornelia de Lange Syndrome Caused by a Pathogenic Variant in SMC3 and a Literature Review
Authors: Ran Li, Bowen Tian, Hanting Liang, Meiping Chen, Hongbo Yang, Linjie Wang, Hui Pan, Huijuan Zhu
Journal: Front Endocrinol (Lausanne) (2021)
Keywords: cornelia de lange syndrome, smc3, growth disorders, heterozygous pathogenic variants, short stature
MeSH terms: Asian People / genetics, Cell Cycle Proteins / genetics, Chondroitin Sulfate Proteoglycans / genetics, Chromosomal Proteins, Non-Histone / genetics, De Lange Syndrome / pathology, Mutation, Case Reports, Research Support, Non-U.S. Gov't, Review, De Lange Syndrome / etiology, De Lange Syndrome / metabolism, Exome Sequencing, Humans, Male, Phenotype, Prognosis, Cell Cycle Proteins, Chondroitin Sulfate Proteoglycans, Chromosomal Proteins, Non-Histone, SMC3 protein, human

Purpose:
Cornelia de Lange syndrome (CdLS) is a rare congenital developmental disorder, and cases caused by variants in SMC3 are infrequent. This article describes a case of CdLS related to a pathogenic variant in SMC3 and performs a literature review.
Methods:
We collected clinical data and biological samples from a 12-year-old boy with "short stature for 11 years". Gene variants in the proband were detected by whole-exome sequencing, and the variants in his parents were verified by Sanger sequencing. All SMC3-related CdLS patients from the PubMed and Web of Science databases were collected and summarized using the available data.
Results:
A pathogenic variant in SMC3 in the proband, c.1942A>G, was identified. Neither of his parents carried the same variant. Twenty-eight patients were diagnosed with CdLS with variants in SMC3, including the cases in this study and those reported in the literature, where half of the variant types were missense, followed by 32% (9/28) with a deletion and 11% (3/28) with a duplication. All patients showed symptoms of verbal development delay and intellectual disability to different degrees, and 90% patients had long eyelashes while 89% patients had arched eyebrows.
Conclusion:
This study summarized different gene variants in SMC3 and the frequencies of the various clinical manifestations according to the reported literature. For CdLS caused by SMC3 variants, short stature and facial dysmorphic features are the two most important clinical clues. Definite diagnosis of this rare disease may be challenging clinically; thus, it is significant to use molecular diagnosis.
Oocyte Retrieval in Asymptomatic Patients Positive for SARS-CoV-2
Authors: Allison Akers, Erika P New, Shayne Plosker, Celso P Silva, Rachel Sprague, Anthony N Imudia
Journal: Case Rep Obstet Gynecol (2022)
MeSH terms: Case Reports

Objective:
To report two cases of oocyte retrieval performed in asymptomatic SARS-CoV-2-positive patients.
Design:
Case report. Setting. Outpatient private practice infertility center. Patients. A 28-year-old woman at risk for OHSS who took her trigger injection prior to testing positive for SARS-CoV-2 and a 19-year-old oncofertility patient who tested positive prior to retrieval due to a family exposure. Both patients were asymptomatic. Main Outcome Measures. Cycle outcomes, patient safety, and staff safety.
Results:
Both patients underwent successful oocyte retrieval procedures without developing symptoms or complications from COVID-19. No staff members that cared for these patients developed symptoms of COVID-19.
Conclusion:
Worsening fertility outcomes and potential for psychological and financial burdens to the patient must be balanced with risk of perioperative complications in patients testing positive for SARS-CoV-2. As we continue to provide fertility care in a world with COVID-19, appropriate risk mitigation strategies should be implemented to minimize exposure to SARS-CoV-2.
Two Case Presentations Infected by Trichosporon asahii and Treated with Voriconazole Successfully
Authors: Hikmet Gulsah Tanyildiz, Sule Yesil, Sule Toprak, Mehmet Onur Candir, Gurses Sahin
Journal: Case Rep Infect Dis (2015)

Background. Trichosporon asahii is an opportunistic fungus that causes infections in immunosuppressed patients. Neutropenia developing due to malignancies is an important risk factor for fungal infection. Case Report. We present two pediatric oncology cases successfully treated with voriconazole after T. asahii infection that is known to cause fatal sepsis and invasive fungal infection. Conclusion. There is no conclusive evidence that the antifungal agent voriconazole is effective in the neutropenic patients infected with Trichosporon asahii. Liposomal amphotericin B has also been reported to be inadequate for treatment. We believe that our patients were successfully treated and survived because the antifungal agents were started early and properly, although the infection can be fatal in up to 80% of cases despite treatment.
Duodenal histoplasmosis presenting with upper gastrointestinal bleeding in an AIDS patient
Authors: Michael A Spinner, Heather N Paulin, C William Wester
Journal: Case Rep Gastrointest Med (2012)

Gastrointestinal histoplasmosis (GIH) is common in patients with disseminated disease but only rarely comes to clinical attention due to the lack of specific signs and symptoms. We report the unusual case of a 33-year-old Caucasian male with advanced AIDS who presented with upper GI bleeding from diffuse erosions throughout the duodenum. Biopsy of the lesions revealed small bowel mucosa with granulomatous inflammation and macrophages with small intracellular yeasts consistent with disseminated histoplasmosis. The patient demonstrated significant clinical improvement following a two-week course of liposomal amphotericin B. To our knowledge, this is the first case report of duodenal histoplasmosis leading to clinically significant bleeding, manifesting with worsening anemia and melanotic stools. Given our findings, we maintain that GIH should be considered on the differential diagnosis for GI bleeding in AIDS patients at risk, specifically those with advanced immunosuppression (i.e., CD4(+) cell counts <100 cells/mm(3)) who reside in endemic areas (Ohio or Mississippi river valleys) and/or have a prior history of histoplasmosis. For diagnostic evaluation, we recommend checking a urine Histoplasma quantitative antigen EIA as well as upper and/or lower endoscopy with biopsy. We recommend treatment with a two-week course of liposomal amphotericin B followed by indefinite itraconazole.