OpenMed/multicare-articles huggingface dataset:
A Novel 12q13.2-q13.3 Microdeletion Syndrome With Combined Features of Diamond Blackfan Anemia, Pierre Robin Sequence and Klippel Feil Deformity
Authors: Domenico Roberti, Renata Conforti, Teresa Giugliano, Barbara Brogna, Immacolata Tartaglione, Maddalena Casale, Giulio Piluso, Silverio Perrotta
Journal: Front Genet (2018)
Keywords: diamond blackfan anemia, klippel feil syndrome, pierre robin sequence, craniocervical junction, craniofacial syndromes, craniometry, musculoskeletal system development
MeSH terms: Case Reports

Diamond-Blackfan anemia (DBA) is a rare congenital erythroid aplasia with a highly heterogeneous genetic background; it usually occurs in infancy. Approximately 30-40% of patients have other associated congenital anomalies; in particular, facial anomalies, such as cleft palate, are part of about 10% of the DBA clinical presentations. Pierre Robin sequence (PRS) is a heterogeneous condition, defined by the presence of the triad of glossoptosis, micrognathia and cleft palate; it occurs in 1/8500 to 1/14,000 births. Klippel Feil (KF) syndrome is a complex of both osseous and visceral anomalies, characterized mainly by congenital development defects of the cervical spine. We describe the case of a 22-years-old woman affected by DBA, carrying a de novo deletion about 500 Kb-long at 12q13.2-q13.3 that included RPS26 and, at least, others 25 flanking genes. The patient showed craniofacial anomalies due to PRS and suffered for KF deformities (type II). Computed Tomography study of cranio-cervical junction (CCJ) drew out severe bone malformations and congenital anomalies as atlanto-occipital assimilation (AOA), arcuate foramen and occipito-condylar hyperplasia. Foramen magnum was severely reduced. Atlanto-axial instability (AAI) was linked to atlanto-occipital assimilation, congenital vertebral fusion and occipito-condyle bone hyperplasia. Basilar invagination and platybasia were ruled out on CT and Magnetic Resonance Imaging (MRI) studies. Furthermore, the temporal Bone CT study showed anomalies of external auditory canals, absent mastoid pneumatization, chronic middle ear otitis and abnormal course of the facial nerve bones canal. The described phenotype might be related to the peculiar deletion affecting the patient, highlighting that genes involved in the in the breakdown of extracellular matrix (MMP19), in cell cycle regulation (CDK2), vesicular trafficking (RAB5B), in ribonucleoprotein complexes formation (ZC3H10) and muscles function (MYL6 and MYL6B) could be potentially related to bone-developmental disorders. Moreover, it points out that multiple associated ribosomal deficits might play a role in DBA-related phenotypes, considering the simultaneous deletion of three of them in the index case (RPS26, PA2G4 and RPL41), and it confirms the association among SLC39A5 functional disruption and severe myopia. This report highlights the need for a careful genetic evaluation and a detailed phenotype-genotype correlation in each complex malformative syndrome.
Case report: Superficial cervicovaginal myofibroblastoma of the cervix with endometrial carcinoma
Authors: Xiaowei Zhang, Bifei Huang, Junqiang Du
Journal: Front Med (Lausanne) (2023)
Keywords: benign, cervix, endometrioid carcinoma, neoplasm, surgery
MeSH terms: Case Reports

Introduction:
A superficial cervical vaginal myofibroblastoma is a rare mesenchymal tumor, originating from the superficial stroma of the vagina and cervix. This study reports a patient, who was diagnosed with endometrioid carcinoma and a concomitant benign superficial cervicovaginal myofibroblastoma.
Case presentation:
A 53-year-old female with endometrial carcinoma was admitted to the Department of Gynecology of our hospital. She had a history of breast cancer on May 23, 2010, and took toremifene citrate for 41 months. Radical resection of the endometrial carcinoma was performed at our hospital. Based on the pathological findings, she was postoperatively diagnosed with endometrial adenocarcinoma with superficial cervical vaginal myofibroblastoma. The patient continued receiving postoperative breast cancer treatment. She underwent follow-up for 23 months. No recurrence or metastasis of the endometrial cancer or superficial cervical vaginal myofibroblastoma was observed.
Conclusion:
There were similarities between superficial cervical vaginal myofibroblastoma and other mesenchymal tumors of the female genital tract. Superficial cervical vaginal myofibroblastomas have a good prognosis, and the combination of tissue morphology and immunohistochemistry helped establish a definitive diagnosis.
Bilateral ovarian krukenberg tumor in a full-term pregnancy
Authors: Omar Felipe Dueñas-García, Maricela Diaz-Sotomayor, Charu Chanana
Journal: ISRN Obstet Gynecol (2011)
MeSH terms: Case Reports

Objective. Krukenberg tumors in pregnancy are very rare and their management can present a dilemma for the obstetrician gynecologist. Case Report. We present the case of a G3P2002 who presented to us and the 38 weeks gestation with bilateral massive Krukenberg tumors. Despite at surgery and chemotherapy she died 3 months postpartum. Conclusion. Early detection followed by surgery and chemotherapy could possibly result in a favorable outcome with such patients.
Pseudo-Thrombotic Microangiopathy Secondary to Vitamin B12 Deficiency
Authors: Dylan Morrissey, Yuheng Sun, Sarina Koilpillai, Jacqueline Kropf, Steve J Carlan
Journal: Case Rep Med (2022)
MeSH terms: Case Reports

Background:
Clinical B12 deficiency with hematological or neurological manifestations is rare. An unusual manifestation of B12 deficiency is pseudo-thrombotic microangiopathy (TMA), which is characterized by hemolytic anemia, thrombocytopenia, and schistocytosis and only occurs in 2.5% of those with B12 deficiency. Pseudo-TMA is misdiagnosed as thrombotic thrombocytopenic purpura (TTP) in 40% of cases, resulting in misguided treatment including plasmapheresis.
Case:
A 44-year-old Hispanic presented with 3 weeks of progressively worsening non-radiating chest pain, fatigue, and shortness of breath (SOB). Laboratory findings revealed severe pancytopenia and macrocytosis with a hemoglobin of 5.4 g/dL, mean corpuscular volume of 116.3 fL, and vitamin B12 low at 149 pg/mL. She was diagnosed with pseudo-TMA and after starting 1000 micrograms of parenteral vitamin B12 injections daily and discontinuing plasmapheresis and steroid administration, she improved.
Conclusion:
Failure to recognize pseudo-TMA often results in unnecessary treatment with plasmapheresis and delays appropriate treatment with vitamin B12 supplementation. It is therefore extremely important to consider pseudo-TMA as a differential diagnosis in patients that present with hemolytic anemia, thrombocytopenia, and schistocytosis.
Right porto-ovarian H-shunt for the surgical treatment of symptomatic portal biliopathy: a case report and literature review
Authors: Konstantinos Vasiliadis, Guido Engelmann, Peter Sauer, Jürgen Weitz, Jan Schmidt
Journal: HPB Surg (2009)

Portal hypertension, especially when it is caused by extrahepatic portal vein thrombosis, is commonly followed by the development of an abnormal periportal and pericholedochal variceal network, which form a portal cavernoma. This may exert extrinsic pressure on the adjacent biliary ducts and gallblader, causing morphologic abnormalities, termed portal biliopathy, which is usually leading to asymptomatic cholestasis, while less frequently it can be associated with obstructive jaundice, gallstone formation, and cholangitis. Endoscopic stone extraction can effectively treat portal biliopathy when cholangitis is associated with common bile duct stones. Portosystemic shunts are indicated in cases of disease recurrence as they can achieve regression of portal cavernoma and usually relieve symptomatic portal biliopathy. This case describes an alternative partial portosystemic shunt that utilizes the right ovarian vein as an autologous conduit for the surgical treatment of symptomatic portal biliopathy.
Elective laparoscopic splenectomy for giant hemangioma: a case report
Authors: Christophoros Kosmidis, Christopher Efthimiadis, Georgios Anthimidis, Marios Grigoriou, Kalliopi Vasiliadou, Petros Sfikakis, Nikolaos Tziris, Epaminondas Fahantidis
Journal: Cases J (2009)

Although unusual, hemangioma is the most common primary splenic neoplasm. Splenectomy is indicated when the tumor is large, with increased risk of hemorrhage. The laparoscopic approach is preferred for most elective splenectomies. Although technically feasible, laparoscopic splenectomy can be a challenge in the patient with splenomegaly. We present herein a case of an 18-year-old male asymptomatic patient who underwent laparoscopic splenectomy for the incidental finding of splenomegaly caused by a large splenic hemangioma. Laparoscopic splenectomy appears to be a safe and effective procedure, in appropriately experienced hands, for patients with splenomegaly, given the spleen's fragile anatomy and its relationship to other abdominal viscera.
Anton syndrome after subarachnoid hemorrhage and delayed cerebral ischemia: A case report
Authors: Barojas-Alvarez Manuel Ricardo, Longoria-Ibarrola Erika Mariana, Sosa-Ortiz Al, Calleja-Castillo Juan Manuel, Ramirez-Bermudez Jesus
Journal: Cereb Circ Cogn Behav (2021)
Keywords: anton syndrome, cotard syndrome, metacognition, right hemisphere, stroke, subarachnoid hemorrhage
MeSH terms: Case Reports

We report the case of a patient with ruptured middle cerebral artery aneurysm, subarachnoid hemorrhage and frontal intracerebral hemorrhage, who secondarily presented with delayed cerebral ischemia and bilateral occipital infarcts, with complete vision loss, visual anosognosia, and confabulations as the main symptoms. Additionally, the patient had defined features of Cotard syndrome, as revealed by persistent nihilistic delusions. The brain imaging studies showed a bilateral occipital ischemic lesion, as well as frontal and parietal hemorrhagic lesions in the right hemisphere. We address the general theories of anosognosia, confabulation and the problem of why a bilateral occipital lesion is not enough for these metacognitive defects to exist. The presence of right frontal and or parietal hemisphere lesions could be necessary features in most cases.
Incarcerated Lumbar Hernia Complicated by Retroperitoneal Pseudoaneurysm 50 Years after Resection and Radiation Therapy of a Sarcoma
Authors: Oluwatobi Onafowokan, Dabanjan Bandyopadhyay, Dale Johnson, Hugo J R Bonatti
Journal: Case Rep Surg (2019)
MeSH terms: Case Reports

Background:
Lumbar hernias are rare abdominal hernias. Surgery is the only treatment option but remains challenging. Posterior incisional hernias are even rarer especially with incarceration of intra-abdominal contents.
Case presentation:
A 68-year old female presented with a 3-day history of worsening acute abdominal pain and distension, with multiple episodes of emesis. A CT scan indicated a large incarcerated posterolateral abdominal hernia. The patient had a history of resection of a sarcoma on her back as a child and also received chemotherapy and radiation. During emergency laparoscopy, a hemorrhagic small bowel segment incarcerated in the hernia was reduced and resected, and the distended small bowel was decompressed. An elective hernia repair was scheduled. After temporary clinical improvement, the patient again developed abdominal pain, distention, and emesis. During emergency laparotomy, a large hematoma in the right flank was found and partially evacuated. The right colon was mobilized out of the hernia and the duodenum was kocherized. A 20 × 20 cm BIO-A mesh was placed on top of the Gerota fascia and cranially tucked under liver segment VI. Anteriorly, the mesh was fixated with absorbable tacks. The duodenum and colon were placed into the mesh pocket. A postoperative CT scan identified a 2 cm pseudoaneurysm of a side branch of a lumbar artery, and the bleeding source was embolized. The postoperative course was complicated by Clostridium difficile-associated colitis, but ultimately, the patient recovered fully. At 6-month follow-up, there was no evidence for a recurrent hernia.
Discussion:
There is a paucity of literature concerning lumbar incisional hernias. Repair with bioabsorbable mesh seems feasible, but longer follow-up is necessary as the mesh was placed in an unusual fashion due to the retroperitoneal hematoma. The exact cause of the hemorrhage is unclear and may have been caused during the initial incarceration, during surgery, or may be a late complication of her previous radiation.
Vascularized Free Tissue Transfer in a Patient with Hemophilia B: Case Report and Literature Review
Authors: Mohammed Qaisi, Justin Kierce, James Murphy
Journal: Case Rep Surg (2019)
MeSH terms: Case Reports

Hemophilia is a blood disorder characterized by impairment of the coagulation cascade leading to an increased bleeding risk (Kauffman, 2014). As such, surgical management of these patients can become difficult and well-defined surgical guidelines are not yet in place (Assoumane et al., 2017). Close monitoring of perioperative factor levels may be even more crucial for those undergoing microvascular free tissue transfer. This is because either a hypercoagulable or hypocoagulable bleeding state has the potential to further increase the risk of vascular compromise to the flap. We report a successful case of mandibular reconstruction using a free fibular flap in a patient with severe hemophilia B and the protocols we used, as well as a review of the literature of similar cases. In the literature, we identified 6 cases of microvascular free tissue transfer in patients with hemophilia; two of these cases had complications which were both related to excess bleeding. It is crucial that these cases be managed in a multidisciplinary fashion in close consultation with a hematologist. The role of venothromboembolism (VTE) prophylaxis in the hemophilic patient undergoing free tissue transfer is discussed.
Congenital in situ malrotation of the liver in an asymptomatic adult: a rare entity
Authors: Koushik Sarkar, Jayati Bardhan, Sujata Sarangi
Journal: BJR Case Rep (2016)
MeSH terms: Case Reports

Congenital malformations of the liver are rare occurrences. We are reporting a case of in situ malrotation of the liver. The patient was asymptomatic and had undergone a non-contrast CT scan of the upper abdomen, which showed malrotation of the liver. The purpose of submitting this case report is to make radiologists and surgeons aware of this unusual anatomical variation. Malrotation of the liver as a part of heterotaxy syndrome or situs ambiguous has been reported, but isolated malrotation of the liver without polysplenia in an adult male is a rare entity. A similar case has been reported in the literature as an incidental autopsy finding. Relevant references to this case are given below.
Capsular warning syndrome and its clinical awareness and therapeutic approach: two case reports and a systematic review of the literature
Authors: Hector R Martínez, Jose A Figueroa-Sanchez, Carlos A Arreola-Aldape, Jose Alberto Moran Guerrero, Ana Luisa Trujillo-Bracho, Alejandro Cantú López
Journal: Front Neurol (2023)
Keywords: burst of focal neurologic events, capsular stroke, capsular warning syndrome, ischemia in internal capsule, stroke unit
MeSH terms: Systematic Review

Introduction:
Capsular warning syndrome (CWS) is characterized by recurrent stereotyped episodes of unilateral transient motor and/or sensory symptoms affecting the face and upper and lower limbs, without cortical signs in 24 h and with a high risk of developing stroke. Among the possible underlying mechanisms, small perforating artery disease is the most common. The aim was to assess the most common risk factors, the therapeutic alternatives, and the different outcomes in patients with CWS, along with the presentation of two cases treated in our Emergency Department.
Methods:
Stroke Code, launched at our institution in January 2017, was triggered 400 times, and by December 2022, 312 patients were admitted as having an acute ischemic stroke. Among them, two of them fulfilled the criteria of CWS. A systematic search was carried out in PubMed, Scopus, and Web of Science databases to seek demography and therapeutic approaches in CWS.
Results:
Of 312 cases, two with acute ischemic stroke exhibited CWS. The first patient had six events of right hemiparesis with recovery in 10-30 min; after MRI and digital subtraction angiography (DSA), he received apixaban and clopidogrel; however, a day after admission, he developed ischemic infarction with partial recovery. The second patient presented five transient events of right hemiparesis. After MRI and DSA with an intra-arterial infusion of nimodipine, oral aspirin, and ticagrelor, he presented another event-developing stroke and was discharged with partial recovery. A systematic review found 190 cases of CWS in 39 articles from 1993 to 2022. Most were male subjects (66.4%), and hypertension (60%), smoking (36%), diabetes (18%), and dyslipidemia (55%) were the most common risk factors. Over 50% of the cases were secondary to small perforating artery disease. The most commonly used treatments were dual antiplatelet therapy (DAT), recombinant tissue plasminogen activator, and anticoagulant therapy (ACT), where the combination of DAT plus ACT was linked to the most positive functional outcomes (82.6%).
Conclusion:
Our cases fit with the description of patients with partial recovery and risk factors (hypertension, diabetes, and smoking) in male patients. There is a lack of evidence regarding the best treatment option; dual antiplatelet therapy and anticoagulation therapy are strong contenders for a favorable result.
Nail clubbing in laxative abuse: case report and review of the literature
Authors: Olivia A Charlton, Philippa Dickison, Saxon D Smith, Simon D Roger
Journal: J Eat Disord (2019)
Keywords: clubbing, eating disorder, laxative abuse, nail clubbing
MeSH terms: Case Reports

Background:
The link between clubbing and laxative abuse has been reported several times in the literature, in all cases in young females. The nature of this relationship is not understood.
Case:
A young female, with no history of hepatic, pulmonary or malignant disease was found to have nail clubbing in the context of laxative abuse. A literature review revealed several similar cases.
Conclusion:
Laxative abuse is an important consideration in the assessment of clubbing in populations at risk of eating disorders, to prevent over-investigation and facilitate management of the eating disorder itself. This case highlights a new clinical presentation of an eating disorder.
Case:
A 36-year-old woman was being reviewed by a renal specialist for renal impairment and electrolyte disturbances, in the context of a background of multiple renal calculi 4 years prior, hypokalaemia and hypercalcaemia. The attending nephrologist brought attention to her nails, which demonstrated clubbing. She stated that she had had clubbing for 10 years, and that it was of gradual onset and not associated with any pain. There was no history of hepatic, cardoipulmonary or malignant disease.
Hyperthermic Extracorporeal Applied Tumor Therapy for Six Cycles for Recurrent Metastatic Peritoneal Serous Papillary Carcinoma
Authors: Roger A Vertrees, Joseph B Zwischenberger, Jan A Winetz
Journal: Cureus (2023)
Keywords: extracorporeal technology, extracorporeal whole-body hyperthermia, hyperthermia, ovarian cancer, perfusion hyperthermia
MeSH terms: Case Reports

An elderly female with failed third-line peritoneal serous papillary carcinoma with metastasis (ovarian cancer) was treated by our proprietary method of whole-body hyperthermia-a recirculating extracorporeal circuit at 42°C for 120 minutes. She received six cycles, 28 days apart. Five index lesions were measured prior to and after each treatment. Results showed stable disease with reduced standard uptake volume. She then restarted six cycles of a previously failed chemotherapy, resulting in no evidence of disease for nine months; she survived for 27 months. Using our technology, the patient experienced an improvement in the quality of life and an increase in survival.
Diagnosing urethral duplication including a novel radiological diagnostic algorithm
Authors: Jonathan Frankel, Richard Sukov
Journal: BJR Case Rep (2016)
MeSH terms: Case Reports

Until this 24 -year -old male was sexually active, the small dimple on his penile glans had never required any consideration. However, persistent focal irritation during sexual intercourse compelled him to pursue medical attention. Following urological consultation he was referred for imaging evaluation that demonstrated urethral duplication. After determining the subtype classification, urologic repair was successfully completed without complication. Urethral duplication is an exceedingly rare genitourinary anatomic anomaly with a variety of presentations and symptomatology. The vast majority of urethral duplications are diagnosed within the paediatric and adolescent populations. Although urethral duplication is managed by urologists, imaging identification of the particular subtype is critical for proper management planning. A thorough review of existing literature on the classification strategies and diagnostic criteria is discussed. Owing to the scarcity of clinical experience, a wide variety of diagnostic approaches are described. These often include unnecessary radiation, invasiveness and cost. A strategic and efficient diagnostic algorithm is included to guide future imaging evaluation of suspected urethral duplication. This provides the essential clinical information, while minimis ing radiation, invasiveness and cost.
Case Report: Double Micro-Guidewire Technique for Emergent Rescue of Proximal Stent Collapse During Recanalization of Nonacute Occlusion of Vertebral Artery
Authors: Kun Zhang, Jin-Chao Xia, Hui-Li Gao, Bu-Lang Gao, Yong-Feng Wang, Zhao-Shuo Li, Tian-Xiao Li, Zi-Liang Wang
Journal: Front Neurol (2021)
Keywords: atherosclerotic occlusion, cerebrovascular disease, complications, double micro-guidewires, stent collapse
MeSH terms: Case Reports

Cerebral arteries are usually tortuous, and in the treatment of cerebrovascular diseases with stenting, a stent deployed may be collapsed at one end, leading to reduced blood flow and subsequent stent occlusion. Immediate rescuing measures should be implemented to prevent severe ischemic events. In this case report, we present a case with V4 segment occlusion of the right vertebral artery treated with endovascular stent angioplasty. An Enterprise stent deployed at the occlusion segment was collapsed at the proximal end after withdrawal of the delivery system. Immediate rescuing measures were taken by navigating a micro-guidewire through the lateral stent mesh at the proximal end into the stent lumen followed by advancing a second micro-guidewire right through the reopened proximal stent end into the stent lumen for deployment of a supporting balloon-expandable Apollo stent to prevent stent collapse. Follow-up digital subtraction angiography 6 months later demonstrated patent stents and unobstructed blood flow.