OpenMed/multicare-articles huggingface dataset:
Ultrasound-Guided Vascular Access Is an Important Tool to Prevent Catastrophes: Transinferior Epigastric Artery Cardiac Catheterization
Authors: Ahmed Amro, Kanaan Mansoor, Mohammad Amro, Amal Sobeih, Rameez Sayyed
Journal: Case Rep Cardiol (2018)
MeSH terms: Case Reports

We report a case of cardiac catheterization that was done entirely by accidentally accessing the inferior epigastric artery (IEA) through an unintentional puncture of the U-shaped portion of the inferior epigastric artery. Luckily the patient did not have any trauma to the IEA and was d/c home with no complications. A 48-year-old female with history of hypertension and CAD S/P left circumflex stent many years ago who presented to our facility with persistent crescendo angina for which decision was made to proceed with LHC. The cardiac catheterization showed no significant CAD with patent stent so it was decided that there is no further intervention needed. Femoral angiogram was done and showed that the stick was high and the tip of the sheath was about to come out of the CFA; at the same time, it came into our minds that the sheath could be passing through the IEA by sticking the U portion of the IEA, but due to the high risk, an immediate access was obtained through the contralateral groin then a balloon over the wire was passed beyond the original sheath tip, then the sheath was slowly pulled back while contrast was injected. Angiogram showed that the sheath was inserted through the U-shaped portion of the IEA. Conclusion. Ultrasound guidance should be the first-line standard for arterial access in any cardiac catheterization procedure. US is a proven tool that can increase success and decrease complications in a wide variety of vascular access procedures.
A New Pathogenic Missense Variant in a Consanguineous North-African Family Responsible for a Highly Variable Aceruloplasminemia Phenotype: A Case-Report
Authors: Hervé Lobbes, Quitterie Reynaud, Sabine Mainbourg, Claire Savy-Stortz, Martine Ropert, Edouard Bardou-Jacquet, Stéphane Durupt
Journal: Front Neurosci (2022)
Keywords: aceruloplasminemia, ferroxidase, genetic variation, iron overload, neurodegenerative disease
MeSH terms: Case Reports

Aceruloplasminemia is a rare autosomal recessive inherited disorder. Mutations in the ceruloplasmin gene cause depressed ferroxidase activity leading to iron accumulation. The clinical phenotype is highly variable: anemia, retinopathy, diabetes mellitus, psychiatric disorders, and neurological symptoms including parkinsonian disorders and dementia are the main features of this disease. Characterized by high serum ferritin with low transferrin saturation, aceruloplasminemia uniquely combines brain, liver and systemic iron overload. We report here four new cases of aceruloplasminemia in a consanguineous North-African family. Genetic sequencing revealed a homozygous missense variant c.656T>A in exon 4 of the ceruloplasmin gene, which had been described previously as of "unknown significance" in the dbSNP database and never associated with ACP in the HGMD database. Ferroxidase activity was strongly depressed. Clinical manifestations varied among cases. The proband exhibited mild microcytic anemia, diabetes mellitus, psychosis and parkinsonism, whereas the other cases were asymptomatic or mildly anemic, although high serum ferritin and brain iron deposition were documented in all of them. Therapeutic management was complex. The proband started deferoxamine treatment when already symptomatic and he rapidly declined. In the asymptomatic cases, the treatment was associated with poor tolerance and was discontinued due to anemia requiring red blood cell transfusion. Our series illustrates the need for new therapeutic approaches to aceruloplasminemia.
Marked Decrease in CA 19-9 Level Belies Rapidly Progressive Lymphangitic Carcinomatosis in a Case of Metastatic Pancreatic Cancer
Authors: Daniel A King, Gino Pineda, Iny Jhun, George Fisher
Journal: J Pancreat Cancer (2020)
Keywords: ca 19-9, folfirniox, biomarker limitations, lymphangitic carcinomatosis, pancreatic cancer, pancreatic ductal adenocarcinoma
MeSH terms: Case Reports

Background: The CA 19-9 tumor marker is commonly used alongside imaging to trend chemotherapy response in patients with pancreatic ductal adenocarcinoma. Presentation: We describe an unusual clinical case of metastatic pancreatic cancer who achieved a marked decline in CA 19-9 but paradoxically developed widespread pulmonary lymphangitic carcinomatosis leading to rapid clinical decline and death. Conclusions: This case highlights the limitations of using the CA 19-9 tumor marker in isolation.
A Liver Transplant for Local Control in a Pediatric Patient with Metastatic TFE3-Associated Perivascular Epithelioid Cell Tumor (PEComa) to the Liver
Authors: Whayoung Lee, Josephine HaDuong, Aaron Sassoon, Tuan Dao, Ali Nael
Journal: Case Rep Pathol (2021)
MeSH terms: Case Reports

Perivascular epithelioid cell tumors (PEComas) are rare mesenchymal tumors with widespread distribution throughout the body and unpredictable clinical behavior. Recently, a subset of these tumors has been reported to harbor Transcription Factor E3 (TFE3) gene rearrangement with distinct morphologic and immunophenotypic features. Although limited, these tumors may represent a separate entity from the conventional PEComas and may require different treatment approaches. Surgery is the main treatment option with no clear consensus on systemic therapy. Here, we present the first case of a malignant pediatric colonic TFE3-associated PEComa with isolated liver metastasis leading to liver transplantation for the local control.
Pleomorphic adenoma presenting as retroauricular mass: an unusual case
Authors: Laina Ndapewa Angula, Le Sun, Ning Fang, Xin Wang
Journal: Pan Afr Med J (2020)
Keywords: pleomorphic adenoma, parotid gland, retroauricular mass
MeSH terms: Adenoma, Pleomorphic / diagnosis, Parotid Neoplasms / diagnosis, Case Reports, Adenoma, Pleomorphic / pathology, Adenoma, Pleomorphic / surgery, Female, Follow-Up Studies, Humans, Middle Aged, Parotid Neoplasms / pathology, Parotid Neoplasms / surgery, Radiography

Pleomorphic adenomas are benign salivary gland tumours that mostly affect the superficial lobe of the parotid gland. They are commonly found incidentally as rigid, unilateral, painless masses, growing gradually. Ninety percent of pleomorphic adenomas occur in the parotid gland, while 10% appear in minor salivary glands. The incidence of the parotid tumour is 2.4 in 10,000 per year. We describe the case of a 53-year-old woman presenting with a gradually growing retroauricular mass on the left side of the ear. Radiographic imaging and histopathological findings suggested a pleomorphic adenoma of the parotid gland. The tumour was removed and the patient recovered well upon follow-up.
Successful conservative management of a spontaneous intraperitoneal urinary bladder rupture secondary to benign prostatic hyperplasia: a case report
Authors: Ahmed Ibrahimi, Hamza Dergamoun, Idriss Ziani, Zayd El Boukili El Makhoukhi, Hachem El Sayegh, Lounis Benslimane, Yassine Nouini
Journal: Pan Afr Med J (2021)
Keywords: conservative treatment, acute urinary retention, case report, intraperitoneal bladder rupture, urinary ascites
MeSH terms: Prostatic Hyperplasia / complications, Urinary Bladder Diseases / therapy, Urinary Retention / complications, Case Reports, Aged, Anti-Bacterial Agents / administration & dosage, Conservative Treatment, Emergency Service, Hospital, Humans, Male, Rupture, Spontaneous / etiology, Rupture, Spontaneous / therapy, Urinary Bladder Diseases / etiology, Urinary Catheterization, Urinary Retention / etiology, Urinary Retention / therapy, Anti-Bacterial Agents

A spontaneous intraperitoneal bladder rupture is a rare, serious and life-threatening surgical emergency of various etiologies, with unspecific clinical presentation, and difficult diagnosis. Surgical treatment is the standard therapy for intraperitoneal bladder rupture; however, there is an increasing tendency toward conservative management in selected patients with favorable characteristics. Herein, we report a rare case of a 65-year-old male patient presented to the emergency department with intraperitoneal bladder rupture following an episode of acute urinary retention due to benign prostatic hyperplasia, and which was successfully managed conservatively with urinary bladder catheterization and antibiotic therapy, without any complication.
Autism associated with 12q (12q24.31-q24.33) deletion: further report of an exceedingly rare disorder
Authors: Jaime Lin, Gigliolle Romancini de Souza-Lin, Fernanda Coan Antunes, Letícia Burato Wessler, Emílio Luiz Streck, Cinara Ludvig Gonçalves
Journal: Einstein (Sao Paulo) (2020)
MeSH terms: Autism Spectrum Disorder / genetics, Autistic Disorder / genetics, Chromosome Disorders / pathology, Chromosomes, Human, Pair 12 / genetics, Rare Diseases / genetics, Case Reports, Review, Abnormalities, Multiple, Child, Preschool, Chromosome Aberrations, Chromosome Deletion, Humans, Male

Chromosomal abnormalities are responsible for several congenital malformations in the world, some of these are associated to telomeric/subtelomeric deletions. The abnormalities involving the telomere of chromosome 12 are rare, with few reports of deletions involving 12q24.31 region in the literature, and, to our knowledge, only four of them in the 12q24.31-q24.33 region. We report a further case of interstitial deletion of bands 12q24.31-q24.33 associated with autism spectrum disorder. A 2-year-old boy with global developmental delay associated with multiple congenital anomalies. The Human Genome CGH Microarray 60K confirmed the diagnosis of 12q deletion syndrome. This study made a review of the current literature comparing our patient with previously reported cases. These detailed analyses contribute to the development of genotype/phenotype correlations for 12q deletions that will aid in better diagnosis and prognosis of this deletion.
Strangulated obturator hernia: a case report with literature review
Authors: Walid Mnari, Badii Hmida, Mezri Maatouk, Ahmed Zrig, Mondher Golli
Journal: Pan Afr Med J (2019)
Keywords: ct scan, hernia, bowel obstruction, obturator foramen
MeSH terms: Hernia, Obturator / diagnostic imaging, Laparotomy / methods, Tomography, X-Ray Computed / methods, Case Reports, Review, Aged, 80 and over, Early Diagnosis, Emergency Service, Hospital, Female, Hernia, Obturator / surgery, Humans, Intestinal Obstruction / etiology

Obturator hernia is rare. It occurs when part of the pelvic contents protrude through the obturator foramen. It is a diagnostic challenge in the emergency department since the signs and symptoms are non-specific. It often occurs in elderly, emaciated and chronically ill women. The clinical picture include intestinal obstruction with abdominal pain, nausea and vomiting. The treatment is only surgical. Delayed diagnosis of this condition usually leads to a high mortality rate. We report the case of an 83-year-old woman with a strangulated obturator hernia. The hernia was discovered early by computed tomography and was treated by emergency laparotomy. We emphasize on the rule of CT scan to establishing a prompt preoperative diagnosis of an obturator hernia, appropriate planning of surgical intervention and thus optimizing the outcome.
Insidious Onset of Pulmonary Langerhans Cell Histiocytosis During Oncological Follow-Up
Authors: Nico Hustings, Eveline Slachmuylders, Adriana Dubbeldam
Journal: J Belg Soc Radiol (2022)
Keywords: anatomopathology, high-resolution ct, lung, mapk, pulmonary langerhans cell histiocytosis
MeSH terms: Case Reports

Teaching Point: Pulmonary Langerhans cell histiocytosis (PLCH) has to be included in the differential diagnosis of cystic pulmonary lesions on chest computed tomography (CT). CT has important diagnostic value by demonstrating initial centrilobular nodules that in time cavitate and transform into cysts, typically sparing the costophrenic angles.
Circulating Tumor DNA Testing Supports Rapid Therapeutic Decision-Making in Metastatic Melanoma: A Case Report
Authors: Tapas Ranjan Behera, Jung Min Song, Jennifer Ko, Donald Eicher, Joshua Arbesman, Brian Gastman, Daniel H Farkas, Pauline Funchain
Journal: Front Oncol (2022)
Keywords: braf mutation, rapid ctdna test, ctdna, melanoma, rt-pcr, targeted therapy
MeSH terms: Case Reports

Treatment of metastatic melanoma includes the option of targeted therapy in patients with driver BRAF mutations. BRAF-MEK inhibitor drugs improve survival in the approximately 50% of patients with melanoma that harbor BRAF mutations. As BRAF mutation detection in tissue often takes days to weeks, it is not always possible or timely to obtain BRAF status in tissue using immunohistochemistry or next generation sequencing. Plasma-derived circulating tumor DNA (ctDNA) is a potential alternative analyte in such treatment settings. We present a case of metastatic melanoma that was treated in an emergent setting using therapy supported by rapid PCR-based detection of ctDNA positive for a BRAF V600 mutation. In this rapidly deteriorating 53-year-old male with diffuse melanoma metastases and unknown BRAF mutation status requiring hospital admission, a plasma-based BRAF mutation detection supported treatment with targeted therapy, dabrafenib and trametinib. Same-day initiation of therapy resulted in swift amelioration allowing discharge within a week, followed by substantial clinical improvement over the following weeks. In cases requiring urgent clinical decision making, a plasma-based, near point-of-care detection system is useful in supporting targeted therapy decisions without the need for invasive and time-consuming biopsy.
Hepatoid Carcinoma of the Pancreas: A Case Report and Review of the Literature
Authors: Noelle L Williams, Joshua D Palmer, Voichita Bar-Ad, Pramila Rani Anné, Ashwin R Sama, Jonathan C Weinstein, Miguel L Rufail, Charles J Yeo, Mark D Hurwitz
Journal: Case Rep Pancreat Cancer (2015)
Keywords: ectopic, hepatocellular, hepatoid, pancreas
MeSH terms: Case Reports

Background: Hepatoid carcinoma (HC) is a rare extrahepatic malignancy that shares many morphological and serological features with hepatocellular carcinoma. HC has been reported to arise from several organs that are derived from the foregut endoderm, including the stomach, gallbladder, and pancreas. We present a case of an elderly man with hepatoid adenocarcinoma of the pancreatic head with duodenal invasion, presenting with pancreatitis and a gastrointestinal bleed. With only 23 reported cases at the time of our literature search, we discuss the presentation, histopathology, and management of such a rare disease. Case presentation: A 71-year-old man presented initially with abdominal pain and was treated conservatively for pancreatitis. Four months later, he presented with melena and anemia. His examination was noncontributory. Esophagogastroduodenoscopy revealed a friable ampulla of Vater, and a CT scan of the abdomen showed a 4.5 cm pancreatic head mass. Fine needle aspirate revealed an epithelioid neoplasm with hepatoid morphology. Serum α-fetoprotein was normal. Surgical resection confirmed hepatoid adenocarcinoma of the pancreas with positive lymphadenopathy and negative margins. There was no radiographical or gross evidence of distant spread. Observation and adjuvant gemcitabine were discussed as possible options. The patient elected to receive care closer to home and will continue surveillance imaging. Conclusion: With only 23 reported cases, pancreatic HC represents a rare entity within gastrointestinal oncology. There is no clear postoperative adjuvant standard therapy for this likely heterogeneous group of tumors. Although surgical resection is the mainstay of upfront treatment, metastatic disease to the lymph nodes or liver portends a poor prognosis and may warrant treatment such as transarterial embolization, chemotherapy, or radiotherapy.
Papillary Cystadenoma: An Incidental Finding in Tubal Ligation
Authors: Tabitha Lynn Ward, Neda Zarrin-Khameh
Journal: Case Rep Obstet Gynecol (2018)
MeSH terms: Case Reports

von Hippel-Lindau disease (vHLD) is a rare autosomal dominant disorder with multiple benign and malignant tumors of different organs. We report a papillary cystadenoma of the mesosalpinx found in close association with an adenomatoid tumor discovered incidentally following tubal ligation in a patient with vHLD.
Placental Chorangiosis: Increased Risk for Cesarean Section
Authors: Shariska S Petersen, Raminder Khangura, Dmitry Davydov, Ziying Zhang, Roopina Sangha
Journal: Case Rep Obstet Gynecol (2017)
MeSH terms: Case Reports

We describe a patient with Class C diabetes who presented for nonstress testing at 36 weeks and 4 days of gestation with nonreassuring fetal heart tones (NRFHT) and oligohydramnios. Upon delivery, thrombosis of the umbilical cord was grossly noted. Pathological analysis of the placenta revealed chorangiosis, vascular congestion, and 40% occlusion of the umbilical vein. Chorangiosis is a vascular change of the placenta that involves the terminal chorionic villi. It has been proposed to result from longstanding, low-grade hypoxia in the placental tissue and has been associated with such conditions such as diabetes, intrauterine growth restriction (IUGR), and hypertensive conditions in pregnancy. To characterize chorangiosis and its associated obstetric outcomes we identified 61 cases of "chorangiosis" on placental pathology at Henry Ford Hospital from 2010 to 2015. Five of these cases were omitted due to lack of complete records. Among the 56 cases, the cesarean section rate was 51%, indicated in most cases for nonreassuring fetal status. Thus, we suggest that chorangiosis, a marker of chronic hypoxia, is associated with increased rates of cesarean sections for nonreassuring fetal status because of long standing hypoxia coupled with the stress of labor.
Case Report: Novel rare mutation c.6353C > G in the ABCA12 gene causing harlequin ichthyosis identified by whole exome sequencing
Authors: Van Khanh Tran, Quang Minh Diep, Qiu Zilong, Le Thi Phuong, Hai Anh Tran, Nguyen Van Tung, Nguyen Thi Kim Lien, Nguyen Thi Xuan, Le Thi Ha, Thanh Van Ta, Thinh Huy Tran, Nguyen Huy Hoang
Journal: Front Pediatr (2023)
Keywords: abca12, vietnamese patient, harlequin ichthyosis (hi), mutation, whole exome sequencing (wes)
MeSH terms: Case Reports

Background:
Harlequin ichthyosis (HI) is a severe rare genetic disease that mainly affects the skin. Neonates with this disease are born with thick skin and large diamond-shaped plates covering most of their bodies. Affected neonates lose the ability to control dehydration and regulate temperature and are more susceptible to infections. They also face respiratory failure and feeding problems. These clinical symptoms are factors associated with high mortality rates of neonates with HI. Until now, there are still no effective treatments for HI patients and most patients die in the newborn period. Mutation in the ABCA12 gene, which encodes an adenosine triphosphate-binding cassette (ABC) transporter, has been demonstrated as the major cause of HI.
Case presentation:
In this study, we report the case who is one infant that was born prematurely at 32 gestational weeks with the whole body covered with thick plate-like scales of skin. The infant was severely infected with mild edema, multiple cracked skins full of the body, yellow discharge, and necrosis of fingers and toes. The infant was suspected to be affected by HI. Whole exome sequencing (WES) was performed as a tool for detecting the novel mutation in one prematurely born Vietnam infant with HI phenotype. And after that, the mutation was confirmed by the Sanger sequencing method in the patient and the members of his family. In this case, one novel mutation c.6353C > G (p.S2118X, Hom) in the ABCA12 gene, was detected in the patient. The mutation has not been reported in any HI patients previously. This mutation was also found in a heterozygous state in the members of the patient's family, including his parents, an older brother, and an older sister who are no symptoms.
Conclusions:
In this study, we identified a novel mutation in a Vietnamese patient with HI by whole exome sequencing. The results for the patient and the members of his family will be helpful in understanding the etiology of the disease, diagnosing carriers, assisting in genetic counseling, and emphasizing the need for DNA-based prenatal screening for families with a history of the disease.
A case of congenital TTP presenting with microganiopathy in adulthood
Authors: Chris D Gallivan, David M Conrad, Andrea K Kew
Journal: BMC Hematol (2014)
Keywords: adamts13, hemolysis, microangiopathy, ttp, upshaw-schulman
MeSH terms: Case Reports

Background:
Congenital thrombotic thrombocytopenic purpura (TTP), also known as Upshaw-Schulman Syndrome is a rare inherited deficiency of ADAMTS13. Unlike the more common acquired TTP which is characterized by an acquired inhibitor of ADAMTS13, patients with congenital TTP have an absolute deficiency of ADAMTS13 without an inhibitor. Congenital TTP generally presents in infancy with repeat episodes of acute hemolysis and evidence of microangiopathy, these episodes are usually triggered by illness or physiological stress. Congenital TTP can be effectively treated with plasma infusion either during acute episodes or on a prophylactic schedule to prevent episodes.
Case presentation:
We present a case of a 25 year old Caucasian woman with no know family history of hematological disorders with congenital TTP. She presented with episodes of hemolysis since infancy, but without clear evidence of microangiopathy until the age of 25. At presentation to our center the patient was documented to have thrombocytopenia, elevated creatinine, and schistocytes. She was initially treated with plasma infusion at a rate of 60 ml/hr continuously for a 24 hr period with resolution of her thrombocytopenia and hemolysis. At the time of writing this article she is maintained on a prophylactic schedule of biweekly plasma infusions at 10 mg/kg and is maintaining a normal platelet count with no evidence of hemolysis.
Conclusion:
Congenital TTP is a rare condition, and the above case is atypical as the patient did not present with clear evidence of microangiopathy until adulthood. Although this a rare condition it is important for physicians to be aware of as it, especially the possibility of atypical presentations, as the condition is potentially fatal and effective treatment exists.
Pasteurella Endocarditis: A Case Report and Statistical Analysis of the Literature
Authors: Randall S Porter, Christine M Hay
Journal: Case Rep Infect Dis (2020)
MeSH terms: Case Reports

Pasteurella is a genus of commensal bacteria of the oral cavity of several domesticated animals and a common cause of cellulitis after animal bites. Pasteurella has also been reported as a rare cause of endocarditis, with only 35 prior cases of definite Pasteurella endocarditis in the literature. Here, we present a case of Pasteurella multocida endocarditis treated successfully with surgery and antibiosis, as well as a review of the literature with statistical analysis of correlations between risk factors and clinical outcomes, as well as between treatment choices and clinical outcomes. Despite the small sample size, our analysis indicates a statistically significant correlation between comorbid liver disease and mortality, as well as a significant negative correlation between surgical treatment and mortality. This analysis implies a need for surgical management of endocarditis due to Pasteurella species and for more aggressive management of Pasteurella endocarditis in the setting of comorbid liver disease.