OpenMed/multicare-articles huggingface dataset:
Molecular and Clinical Insights in Malignant Brenner Tumor of the Testis With Liver Metastases:A Case Report
Authors: Pietro Parcesepe, Luigi Coppola, Andrea Remo, Mario Rosario D'Andrea, Giulia Coppola, Michele Simbolo, Erminia Manfrin, Aldo Scarpa, Elena De Santis, Guido Giordano
Journal: Front Oncol (2021)
Keywords: brenner tumor, fgfr, case report, epididymis, liver metastases, malignant, mutations, testis
MeSH terms: Case Reports

Malignant Brenner Tumor (mBT) is extremely rare. Although BT are almost exclusive ovarian neoplasms, they may constitute a highly unusual tumor of the testis; in fact, only seven fully documented cases have been reported to date. Because of their rarity, the pathogenesis of these tumors has not been clarified and there is no standard therapeutic approach. We report the first case of epididymal mBT with synchronous, multiple, liver metastases and a very dramatic clinical course. Both primary tumor and metastasis were subjected to mutational analysis of 20 cancer associated genes. Primary tumor showed FGFR3 Tyr375Cys and PIK3CA His1047Arg missense mutations. Both mutations are reported as pathogenic in ClinVar database. The same FGFR3 mutation was present in liver metastasis. Based on these results we believe that the FGFR pathway could be an ideal candidate for personalized treatment, offering hope to a subset of patients with mBT. Personalized approach, including mutational analysis and molecular testing should be required in patients with rare tumors in order to clarify diagnosis and improve therapeutic strategies.
Clinical heterogeneity of Pulmonary Arterial Hypertension associated with variants in TBX4
Authors: Ignacio Hernandez-Gonzalez, Jair Tenorio, Julian Palomino-Doza, Amaya Martinez Meñaca, Rafael Morales Ruiz, Mauro Lago-Docampo, María Valverde Gomez, Javier Gomez Roman, Ana Belén Enguita Valls, Carmen Perez-Olivares, Diana Valverde, Joan Gil Carbonell, Elvira Garrido-Lestache Rodríguez-Monte, Maria Jesus Del Cerro, Pablo Lapunzina, Pilar Escribano-Subias
Journal: PLoS One (2020)
MeSH terms: Familial Primary Pulmonary Hypertension / genetics, Genetic Variation, T-Box Domain Proteins / genetics, Case Reports, Research Support, Non-U.S. Gov't, Adolescent, Adult, Child, Child, Preschool, Codon, Nonsense, Diagnosis, Differential, Familial Primary Pulmonary Hypertension / diagnosis, Familial Primary Pulmonary Hypertension / diagnostic imaging, Female, Gene Deletion, Genetic Predisposition to Disease, Humans, Male, Middle Aged, Mutation, Missense, Pedigree, Phenotype, Polymorphism, Single Nucleotide, Prognosis, Pulmonary Veno-Occlusive Disease / diagnosis, Pulmonary Veno-Occlusive Disease / genetics, Codon, Nonsense, T-Box Domain Proteins, TBX4 protein, human

Background:
The knowledge of hereditary predisposition has changed our understanding of Pulmonary Arterial Hypertension. Genetic testing has been widely extended and the application of Pulmonary Arterial Hypertension specific gene panels has allowed its inclusion in the diagnostic workup and increase the diagnostic ratio compared to the traditional sequencing techniques. This is particularly important in the differential diagnosis between Pulmonary Arterial Hypertension and Pulmonary Venoocclusive Disease.
Methods:
Since November 2011, genetic testing is offered to all patients with idiopathic, hereditable and associated forms of Pulmonary Arterial Hypertension or Pulmonary Venoocclusive Disease included in the Spanish Registry of Pulmonary Arterial Hypertension. Herein, we present the clinical phenotype and prognosis of all Pulmonary Arterial Hypertension patients with disease-associated variants in TBX4.
Results:
Out of 579 adults and 45 children, we found in eight patients from seven families, disease-causing associated variants in TBX4. All adult patients had a moderate-severe reduction in diffusion capacity. However, we observed a wide spectrum of clinical presentations, including Pulmonary Venoocclusive Disease suspicion, interstitial lung disease, pulmonary vascular abnormalities and congenital heart disease.
Conclusions:
Genetic testing is now essential for a correct diagnosis work-up in Pulmonary Arterial Hypertension. TBX4-associated Pulmonary Arterial Hypertension has marked clinical heterogeneity. In this regard, a genetic study is extremely useful to obtain an accurate diagnosis and provide appropriate management.
Huge Lateral Rectus Solitary Plasmacytoma Causing Shunt Extrusion
Authors: Nikoo Hamzeh, Mona Safizadeh, Zohreh Nozarian, Hiva Saffar, Seyed Mohsen Rafizadeh
Journal: Case Rep Ophthalmol Med (2021)
MeSH terms: Case Reports

A 54-year-old man with a history of radiotherapy for right maxillary sinus plasmacytoma 3 years previously was referred to an orbital clinic with progressive proptosis in his right eye. His vision had deteriorated after an initial improvement after phacoemulsification 2 years before. He had undergone shunt implantation and later shunt removal following plate extrusion with the diagnosis of neovascular glaucoma following CRVO. His vision remained at no light perception afterwards, despite a controlled IOP with topical medications. In his CT scan, a large orbital mass was seen with lateral rectus involvement. He underwent deep orbitotomy for tumor resection following worsening of symptoms, and his symptoms were improved afterwards. Pathology report was consistent with plasmacytoma with anaplastic features. After tumor resection, he underwent another course of radiotherapy with complete remission of symptoms afterwards.
Pancreatic Solid Pseudopapillary Tumor Associated with Elevated DHEA and Testosterone
Authors: Elias Estifan, Yana Cavanagh, Ashima Kapoor, Matthew Grossman
Journal: Case Rep Gastrointest Med (2019)
MeSH terms: Case Reports

Solid pseudopapillary neoplasms (SPN) of the pancreas are extremely rare epithelial tumors with low malignant potential. They account for only 1-2% of pancreatic lesions. These masses often go unnoticed and when they become symptomatic it is often due to mass effect on neighboring structures. We encountered an unusual presentation in a healthy 34-year-old female who was found to have elevated dehydroepiandrosterone (DHEA) and testosterone levels during the evaluation of irregular menses. Subsequent abdominal imaging revealed an enhancing 2.7 cm pancreatic tail mass that was concerning for a pancreatic neoplasm. The patient underwent endoscopic ultrasound which confirmed the presence of a hypoechoic, 2.3 x 1.7 cm mass in the pancreatic tail. An intact interface was seen between the mass and adjacent structures, suggesting the absence of local invasion. Fine needle biopsy was performed and cytology was consistent with SPN. The patient later underwent curative distal pancreatectomy, with subsequent normalization of her menses. SPN are generally inactive on laboratory screening modalities (i.e., AFP, CEA, CA 19-9, and CA 125) and our patient showed no evidence of pancreatic insufficiency, pancreatic parenchymal injury, abnormal liver function, or cholestasis. Similarly to our patient, most SPN are asymptomatic. One retrospective study (spanning 15 years) reported vague abdominal pain in ~70% of patients, on initial presentation. Symptoms of tumor mass effect were the second most common. To our knowledge, this is the first reported presentation of elevated DHEA and testosterone levels associated with a solid pseudopapillary tumor in the absence of an underlying adrenal lesion or dysfunction. Despite extensive workup, no alternate etiology or correlatable medical condition could be elucidated for our patient's hormonal dysregulation. We, therefore, recommend further review and investigation into this potential correlative relationship in an effort to guide the future diagnosis and management of this unusual neoplasm.
Acute interstitial pneumonia (hamman-rich syndrome) as a cause of idiopathic acute respiratory distress syndrome
Authors: Jackrapong Bruminhent, Shahla Yassir, James Pippim
Journal: Case Rep Med (2011)
MeSH terms: Case Reports

Hamman-Rich syndrome, also known as acute interstitial pneumonia, is a rare and fulminant form of idiopathic interstitial lung disease. It should be considered as a cause of idiopathic acute respiratory distress syndrome. Confirmatory diagnosis requires demonstration of diffuse alveolar damage on lung histopathology. The main treatment is supportive care. It is not clear if glucocorticoid therapy is effective in acute interstitial pneumonia. We report the case of a 77-year-old woman without pre-existing lung disease who initially presented with mild upper respiratory tract infection and then progressed to rapid onset of hypoxic respiratory failure similar to acute respiratory distress syndrome with unknown etiology. Despite glucocorticoid therapy, she did not achieve remission and expired after 35 days of hospitalization. The diagnosis of acute interstitial pneumonia was supported by the histopathologic findings on her lung biopsy.
Non-Melanoma Skin Cancer in People Living With HIV: From Epidemiology to Clinical Management
Authors: Emmanuele Venanzi Rullo, Maria Grazia Maimone, Francesco Fiorica, Manuela Ceccarelli, Claudio Guarneri, Massimiliano Berretta, Giuseppe Nunnari
Journal: Front Oncol (2021)
Keywords: basal cell cancer, human immunodeficiency virus, immunedeficiency, non-melanoma skin cancer, review (article), squamous cell cancer
MeSH terms: Review

Skin cancers represent the most common human tumors with a worldwide increasing incidence. They can be divided into melanoma and non-melanoma skin cancers (NMSCs). NMSCs include mainly squamous cell (SCC) and basal cell carcinoma (BCC) with the latest representing the 80% of the diagnosed NMSCs. The pathogenesis of NMSCs is clearly multifactorial. A growing body of literature underlies a crucial correlation between skin cancer, chronic inflammation and immunodeficiency. Intensity and duration of immunodeficiency plays an important role. In immunocompromised patients the incidence of more malignant forms or the development of multiple tumors seems to be higher than among immunocompetent patients. With regards to people living with HIV (PLWH), since the advent of combined antiretroviral therapy (cART), the incidence of non-AIDS-defining cancers (NADCs), such as NMSCs, have been increasing and now these neoplasms represent a leading cause of illness in this particular population. PLWH with NMSCs tend to be younger, to have a higher risk of local recurrence and to have an overall poorer outcome. NMSCs show an indolent clinical course if diagnosed and treated in an early stage. BCC rarely metastasizes, while SCC presents a 4% annual incidence of metastasis. Nevertheless, metastatic forms lead to poor patient outcome. NMSCs are often treated with full thickness treatments (surgical excision, Mohs micro-graphic surgery and radiotherapy) or superficial ablative techniques (such as cryotherapy, electrodesiccation and curettage). Advances in genetic landscape understanding of NMSCs have favored the establishment of novel therapeutic strategies. Concerning the therapeutic evaluation of PLWH, it's mandatory to evaluate the risk of interactions between cART and other treatments, particularly antiblastic chemotherapy, targeted therapy and immunotherapy. Development of further treatment options for NMSCs in PLWH seems needed. We reviewed the literature after searching for clinical trials, case series, clinical cases and available databases in Embase and Pubmed. We review the incidence of NMSCs among PLWH, focusing our attention on any differences in clinicopathological features of BCC and SCC between PLWH and HIV negative persons, as well as on any differences in efficacy and safety of treatments and response to immunomodulators and finally on any differences in rates of metastatic disease and outcomes.
Laparoscopic duodenojejunostomy requiring a side-to-side jejunojejunostomy in malignant stenosis of the gastrojejunal anastomosis in jejunal cancer: A case report
Authors: Yugo Matsui, Teppei Murakami, Satoshi Ishida, Ryuichi Mikami, Shotaro Matsuda, Aoi Tayama, Ryutaro Sakata, Takehisa Harada, Masahiko Takeo
Journal: Int J Surg Case Rep (2020)
Keywords: case report, jejunal cancer, jejunojejunostomy, laparoscopic duodenojejunostomy, malignant stenosis, opioid-induced bowel dysfunction
MeSH terms: Case Reports

Introduction:
Laparoscopic duodenojejunostomy is a common surgical treatment for SMA syndrome. Although there are successful cases of laparoscopic duodenojejunostomies on malignant conditions, cancer patients with opioid-induced bowel dysfunction could struggle in maintaining an oral diet despite surgical treatment of the mechanical obstruction.
Case presentation:
A 66 year-old woman with a chemotherapy history of 18 months for Stage 4 jejunal cancer near the ligament of Treiz presented with vomiting and dehydration. She had a gastrojejunostomy constructed prior to the induction of chemotherapy. CT scan and endoscopic studies confirmed the stricture of this anastomosis due to tumor invasion. Laparoscopic duodenojejunostomy was performed, but tolerable food intake was not achieved, likely due to limited bowel movements caused by opioid use and tumor invasion of the celiac plexus. A side-to-side jejunojejunostomy was constructed, since accumulation of food in her jejunal loop was thought to be a significant cause of her limited food intake and vomiting. She was able to tolerate oral intake after the second intervention and was discharged home.
Discussion:
Successful cases of laparoscopic duodenojejunostomy in malignant strictures of the duodenum have been reported. In this case, the outcome was not so well due to limited bowel movements caused by opioid use. Literature review of laparoscopic duodenojejunostomy on SMA syndrome revealed some cases to be unsuccessful in enabling oral feeding or resolving nausea, and methods to treat such cases could be discussed further.
Conclusion:
Laparoscopic duodenojejunostomy is an option for malignant strictures of the duodenum, but a favorable outcome could not be achieved in our case. A side to side anastomosis of the jejunal loop and the efferent jejunum may help in improving the outcome.
Case report: Novel SCN4A variant associated with a severe congenital myasthenic syndrome/myopathy phenotype
Authors: Veronika M Berghold, Mahmoud Koko, Riccardo Berutti, Barbara Plecko
Journal: Front Pediatr (2022)
Keywords: nav14 voltage-gated sodium channel, complex i deficiency, genetic testing, ion channel gene defect, ion channels, loss of function (lof), sodium channel paralogs, whole exome sequencing
MeSH terms: Case Reports

We present a now 18-year-old female patient with a severe congenital myopathy phenotype, originally diagnosed as mitochondrial myopathy, however later revealed to constitute a SCN4A-related myopathy based on genetic testing. After birth, floppiness, bradycardia and respiratory insufficiency ensued, and moderately reduced mitochondrial complex I activity was found in muscle tissue (tested at 3 weeks and 3 years of age, respectively). She was treated with riboflavin, carnitine, creatine and a ketogenic diet. At the age of 13 years, whole exome sequencing challenged the initial diagnosis by identifying two (compound heterozygous) SCN4A variants affecting the highly conserved voltage sensor and pore regions of the voltage-gated sodium channel NaV1.4: a known pathogenic loss of function (LOF) variant [c.4360C>T; p.(Arg1454Trp)] and a novel variant of uncertain significance [c.3615C>G; p.(Asn1205Lys)]. For this novel variant, a LOF effect was predicted by in silico, clinical and functional evidence from paralog human sodium channels, and the variant was accordingly classified as likely pathogenic. The patient's phenotype is in line with the few published cases of autosomal recessive SCN4A-related myopathy. There was limited benefit from treatment with salbutamol and acetazolamide, while pyridostigmine caused side effects at a minor dose. This report highlights the importance of genetic testing in severe myopathies particularly in regard to treatment options and the value of paralog information in evaluating ion channel variations.
Angioinvasive rhinocerebral mucormycosis with complete unilateral thrombosis of internal carotid artery-case report and review of literature
Authors: Aruna Patil, Himansu Shekhar Mohanty, Sharath Kumar, Shrivalli Nandikoor, Prabhu Meganathan
Journal: BJR Case Rep (2016)
MeSH terms: Case Reports

Angioinvasive rhinocerebral mucormycosis is an acute fulminant infection caused by fungi of the order Mucorales that targets uncontrolled diabetics and other immunosupressed individuals. Early imaging features of angioinvasiveness include the presence of thrombosed vessels, especially in the orbital regions and the "black turbinate" sign representing devitalized paranasal sinus mucosa. Intracranial extension carries a grave prognosis, with death reported in 90% of cases. This case report highlights the early and key imaging features of angioinvasive rhinocerebral mucormycosis and a rare complication of complete internal carotid artery thrombosis.
Management of donor site infections in split-thickness skin graft with water-filtered infrared-A (wIRA)
Authors: Anas Aljasir, Thomas Pierson, Gerd Hoffmann, Henrik Menke
Journal: GMS Interdiscip Plast Reconstr Surg DGPW (2018)
Keywords: infection of donor site, skin transplantation, water-filtered infrared-a (wira)
MeSH terms: Case Reports

Infection of donor sites in split-thickness skin grafts is one of the complications of skin transplantation. Nutrition status and associated diseases play important roles in healing of donor sites. There are different ways used to treat infected donor sites. Water-filtered infrared-A (wIRA), as a special form of heat radiation with a high tissue penetration and a low thermal load to the skin surface, can improve the healing of acute and chronic wounds both by thermal and thermic as well as by non-thermal and non-thermic effects. Water-filtered infrared-A (wIRA) increases tissue temperature, tissue oxygen partial pressure and tissue perfusion. These three factors are decisive for a sufficient supply of tissue with energy and oxygen and consequently also for wound healing and infection defense. This was confirmed in a case with a late severe healing disturbance of the donor sites after skin transplantation.
Severe Thrombocytopenia in a Patient With a History of Olfactory Neuroblastoma
Authors: Avani M Singh, Hailing Zhang, Lubomir Sokol
Journal: Cureus (2023)
Keywords: bone marrow, kadish, neuroendocrine, olfactory neuroblastoma, thrombocytopenia
MeSH terms: Case Reports

Olfactory neuroblastoma is a rare disease with no randomized clinical trials to guide treatment decision making. Surgery, radiation, and chemotherapy are all used for treatment, and prognosis is mostly determined by the histologic grade and clinical stage. While a neuroendocrine type of neoplasm is similar to small cell carcinoma, metastatic disease in olfactory neuroblastoma is rare. We present a case at our institution of an uncommon clinical course of relapsed olfactory neuroblastoma complicated by severe thrombocytopenia.
A novel surgical technique to localize small enteropouch fistula
Authors: Abbas Basiri, Emadoddin Mo'oudi, Hamed Akhavizadegan, Naser ShakhsSalim
Journal: BMC Urol (2005)
MeSH terms: Intestinal Fistula / diagnosis, Intestinal Fistula / etiology, Urinary Reservoirs, Continent / adverse effects, Case Reports, Diagnostic Techniques, Surgical, Humans, Intestinal Fistula / surgery, Male, Middle Aged

Background:
One of the rare complications of ileal neobladder after radical cystectomy is pouch-to-intestine fistula. There isn't a classic method to intraoperative diagnosis of small fistula.
Case presentation:
An entero-pouch fistula was occurred in a patient after radical cystectomy with ileal orthotopic pouch. Because of failed conservative management, the patient was candidate for surgery. The hidden small fistula in the small intestine was diagnosed by high intraluminal hydrostatic pressure (by intraluminal saline injection).
Conclusion:
Intraoperative diagnosis the intestinal opening of a small fistula is very important. At the time of surgery if the fistula tract becomes open (during releasing the adhesions), it may leak in the peritoneum in postoperative period. Intraluminal high pressure is a useful method for intraoperative small hidden intestine opening.
Resistance to antihypertensive drugs targeting Renin-Angiotensin-Aldosterone-System in cancer patients: a case series
Authors: Mishita Goel, Rajiv Sunil Varandani, Tochukwu M Okwuosa
Journal: Cardiooncology (2020)
Keywords: angiotensin receptor blockers, angiotensin-converting enzyme inhibitors, chemotherapeutic agents, hypertension

Hypertension impacts overall prognosis in cancer patients. There are no specific recommendations for its management in these patients. We report a case series of 5 cancer patients with suboptimal BP lowering and even worsening BP with ACEi or ARBs that improved to normal upon discontinuation of these drugs.
Bisphosphonate-Induced Osteonecrosis of the Maxilla Resembling a Persistent Endodontic Lesion
Authors: Hossein Mosaferi, Mahta Fazlyab, Sanaz Sharifi, Sepideh Rahimian
Journal: Iran Endod J (2016)
Keywords: bisphosphonate, breast cancer, osteonecrosis, periapical pathosis
MeSH terms: Case Reports

A 52-year-old Caucasian woman suffering from pain in the anterior maxillary region, presented to the clinic. Examination revealed a draining sinus tract in the buccal vestibule of the maxilla in the left anterior segment and expansion in the middle of palate. On conventional radiographic examination the lesion was initially assumed to be a periapical problem related to the incisors but subsequently it was diagnosed to be a bisphosphonate osteonecrosis.
Conclusion:
Acquiring a comprehensive medical history from the patients, conducting the clinical vitality tests and most importantly being familiar with the non-odontogenic lesions that can be side effects of specific medications are important requirements for reaching a correct diagnosis.
Massive Leiomyomatous Uterine Proliferation Following Kidney Transplantation: A Case Report and Literature Review
Authors: Emmanuel J Minja, Miguel Tan, Melissa J Gibbs, Marwan M Kazimi, Jonathan C Hundley, Harrison S Pollinger
Journal: Case Rep Transplant (2018)
MeSH terms: Case Reports

Uterine fibroids are the most common benign uterine tumors affecting > 50% of premenopausal women. The incidence, burden and symptoms from uterine fibroids are higher in women of African descent compared to Caucasians. Despite increasing number of African American females being evaluated for and undergoing kidney transplantation (KT), perioperative management guidelines for uterine fibroids currently do not exist. We present a case of a 40 y/o African American female with known symptomatic uterine fibroids preoperatively and medically managed, who underwent a successful KT and 4 years later progressively developed massive leiomyomatous uterine proliferation, causing a complete lateral displacement of the transplanted kidney with severe hydronephrosis, transplant ureteral obstruction and secondary urinary tract infections with bacteremia. This obstruction required a percutaneous nephrostomy tube placement followed by an interval transabdominal hysterectomy, which was complicated by transplant ureteral transection requiring ureteral reimplantation, resulting in prolonged hospitalization, follow-up and outpatient antibiotic regimen. There is a need for management guidelines for uterine fibroids incidentally encountered during the KT evaluation process to avoid similar preventable post-KT complications in patient populations most commonly affected. Literature review and perioperative management/surveillance strategies are provided.