OpenMed/multicare-articles huggingface dataset:
How to Investigate the Origins of Novelty: Insights Gained from Genetic, Behavioral, and Fitness Perspectives
Authors: C H Martin, J A McGirr, E J Richards, M E St John
Journal: Integr Org Biol (2019)

Biologists are drawn to the most extraordinary adaptations in the natural world, often referred to as evolutionary novelties, yet rarely do we understand the microevolutionary context underlying the origins of novel traits, behaviors, or ecological niches. Here we discuss insights gained into the origins of novelty from a research program spanning biological levels of organization from genotype to fitness in Caribbean pupfishes. We focus on a case study of the origins of novel trophic specialists on San Salvador Island, Bahamas and place this radiation in the context of other rapid radiations. We highlight questions that can be addressed about the origins of novelty at different biological levels, such as measuring the isolation of novel phenotypes on the fitness landscape, locating the spatial and temporal origins of adaptive variation contributing to novelty, detecting dysfunctional gene regulation due to adaptive divergence, and connecting behaviors with novel traits. Evolutionary novelties are rare, almost by definition, and we conclude that integrative case studies can provide insights into this rarity relative to the dynamics of adaptation to more common ecological niches and repeated parallel speciation, such as the relative isolation of novel phenotypes on fitness landscapes and the transient availability of ecological, genetic, and behavioral opportunities.
Intensity modulated radiation therapy (IMRT) for the treatment of unicentric Castlemans disease: a case report and review of the use of radiotherapy in the literature
Authors: Chance Matthiesen, Rajeev Ramgopol, Jonathan Seavey, Salahuddin Ahmad, Terence Herman
Journal: Radiol Oncol (2012)
Keywords: castleman’s disease, imrt

Background:
Surgical resection is considered standard therapy for cases of resectable unicentric Castleman's disease (UCD). Unresectable cases of UCD do not have a consensus regarding the optimal treatment approach, but have utilized steroids, observation, chemotherapy, and radiotherapy. Here we discuss a patient presentation of UCD treated with an advanced radiotherapy technique, IMRT.
Case report:
A 47 year old female was found to have an intra-thoracic posterior UCD and was determined not to be a good surgical candidate. She was referred for radiotherapy and was treated using IMRT to a total dose of 4320 cGy in 180 cGy fractions including a scheduled 10 day break. Following the break, the patient's treatment was replanned at which the initial treatment volume was reduced by 50.9% for the duration of the treatment course. Radiation Therapy Oncology Group (RTOG) grade III pneumonitis developed which was managed medically. Neither disease progression nor late effects have occurred.
Conclusions:
The use of IMRT and planned treatment break was successful in the treatment of a case of UCD, and should be considered for other unresectable cases.
A case of progressive dyspnea: Atrial septal device-related functional mitral regurgitation after myocardial infarction
Authors: Kadriye Memic Sancar, Ayan Isık, Unal Aydın, Ali Kemal Kalkan, Mehmet Erturk, Gamze Babur Guler
Journal: J Cardiovasc Thorac Res (2021)
Keywords: atrial septal defect, device closure, mitral regurgitation
MeSH terms: Case Reports

Transcatheter device closure is a common treatment option of atrial septal defect. Mitral regurgitation has been reported with comorbid mitral valve prolapse and atrial septal defect. However there is no consensus regarding the pathogenesis of mitral regurgitation after closure. We are reporting a patient with functional mitral regurgitation associated with both an oversize closure device and wall motion abnormality after inferior myocardial infarction.
Case Report: Non-traumatic Unilateral Forelimb Arterial Thrombosis Associated With Hyperadrenocorticism in a Dog
Authors: Tae-Yoon Eom, Ju-Won Choi, Kyong-Ah Yoon, Soon-Wuk Jeong, Jung-Hyun Kim
Journal: Front Vet Sci (2021)
Keywords: arterial thrombosis, dog, forelimb ataxia, hyperadrenocorticism, non-traumatic, thromboelastography, tissue plasminogen activator
MeSH terms: Case Reports

A 16-year-old spayed female Pomeranian dog was presented to the hospital with an acute onset of pain and non-weight-bearing lameness in the right forelimb. On physical examination, knuckling, coolness, pain, and cyanosis were observed in the affected forelimb. Peripheral blood glucose concentration and body surface temperature differed between the right and left forelimbs. Hypercoagulable thromboelastographic results and increased D-dimer levels were suggestive of thrombus. Accordingly, recombinant tissue plasminogen activator (rtPA) was administered intravenously. Prompt clinical improvements (including restored warmth of the affected limb) occurred, and rtPA was discontinued after two shots administered 2 h apart owing to concerns of bleeding side effects. The dog was discharged 6 days after admission, and outpatient treatment with clopidogrel was continued for the prevention of re-thrombosis. Following patient stabilization, further examinations for underlying diseases of hypercoagulability were conducted; hyperadrenocorticism (HAC) was diagnosed, and oral trilostane therapy was thus administered. Eight weeks later, the patient regained normal mobility. Finally, in the present canine patient with arterial thrombosis, thrombolysis with rtPA successfully improved clinical symptoms and the following administration of clopidogrel inhibited the formation of additional thrombus.
An Uncommon Case of Bilateral Peroneal Nerve Palsy following Delivery: A Case Report and Review of the Literature
Authors: Kristen Bunch, Erica Hope
Journal: Case Rep Obstet Gynecol (2014)

Peroneal nerve palsy is an infrequent but potential complication of childbirth. Bilateral peroneal palsy is particularly rare following delivery with few reported cases. A 38-year-old gravida 1, para 0 underwent a prolonged second stage of labor, was diagnosed with an arrest of descent, and subsequently underwent an uncomplicated primary cesarean section. The patient was diagnosed with bilateral peroneal neuropathy four days after delivery. By two months postpartum, her foot drop had improved by 85% and the remainder of her symptoms resolved. Awareness of the risks of a peroneal neuropathy as well as implementation of preventive measures is important for members of the delivery team. Regional anesthesia during labor is a risk factor for the development of a peroneal neuropathy.
Dedifferentiated Liposarcoma: A Rare Case Report of Retroperitoneal Myxoid Soft Tissue Tumour with Diagnostic Dilemma
Authors: Ritica Chaudhary, Mona Lisa, Payal Kumari, Aman Kumar
Journal: Clin Pathol (2022)
Keywords: cdk4, dedifferentiated liposarcoma, fish, ihc, mdm2, retroperitoneum
MeSH terms: Case Reports

Background:
The retroperitoneum can host a wide spectrum of soft tissue lesions. These tumours pose a challenge to the pathologist as the morphology is not of much help and immunohistochemistry becomes a necessity.
Case report:
Sixty years old male presented with 2 months history of abdominal lump, pain and dyspepsia. The MRI revealed a heterogeneous mass in the retroperitoneum involving right para spinal muscle, right iliac fossa and right perinephric region with destruction of right transverse process and erosion of adjacent L3 vertebra. Trucut biopsy of the mass was reported as fibroliposarcoma at an outside lab. Patient underwent a wide local excision. Grossly the tumour gave an impression of a liposarcoma but the microscopy showed areas of spindle cells, epitheloid cells, focal areas of ganglion like cells and large areas of myxoid change. IHC panel of S-100, SMA, caldesmon, myogenin, myoglobin and Alk-1 was negative. MDM2, CDK4 and p16 IHC came positive proving it to be a dedifferentiated liposarcoma.
Conclusion:
We report a curious case of retroperitoneal soft tissue tumour with complex morphology and IHC features diagnosed as dedifferentiated liposarcoma based on MDM2, CDK and p16 positivity.
Bilateral bronchial stent deployment for palliative treatment of a compressive intrathoracic mass in a cat
Authors: Kieran Borgeat, Kerry Simpson, David Reese, Helen Wilson, Joanna Potter, Daniel Ogden
Journal: JFMS Open Rep (2018)
MeSH terms: Case Reports

Case summary:
Bronchial stents may be useful to relieve clinical signs of extraluminal compression. Herein we describe a case which, to our knowledge, is the first cat where bilateral bronchial stents have been used clinically. Respiratory signs of principal bronchial compression were alleviated after the stent procedure. Minor complications occurred, specifically: severe hypoxia during stent deployment; a transient, self-limiting postoperative pneumothorax possibly associated with ventilation-induced lung injury; bronchopneumonia (possibly pre-existing); and transient worsening of cough postoperatively. Stents were well- tolerated long- term. The cat was euthanased at 44 weeks post-stent procedure, owing to clinical signs of regurgitation, seemingly related to oesophageal dysfunction associated with tumour invasion.
Relevance and novel information:
In this case, it appeared that bronchial stents were feasible and the procedure was associated with long-term improvement in respiratory signs related to extraluminal bronchial compression.
Simultaneous Bilateral Testicular Metastases from Renal Clear Cell Carcinoma: A Rare Presentation in Von Hippel-Lindau disease
Authors: Asaad Moradi, Delaram Farhoumand, Behnaz Bouzari, Behnam Shakiba
Journal: J Kidney Cancer VHL (2022)
Keywords: neoplasm metastasis, renal cell carcinoma, testis, von hippel lindau disease
MeSH terms: Case Reports

In this article, we present a Von Hippel-Lindau (VHL) patient with synchoronus bilateral testicular metastasis from renal cell carcinoma (RCC). A 50 year-old man, a known case of VHL syndrome was referred with palpable masses in both the testes. His medical history demonstrated that he had undergone the brain surgery for cerebellar hemangioblastoma. He had undergone simultaneous Whipple's pancreatectomy and left radical nephrectomy becuase of well-differentiated neuroendocrine tumors in head and body of the pancreas and a 6-cm clear cell-type grade-3 RCC in the left kidney. Scrotal sonography demonstrated vascular and heteroechogen masses measuring 19×14 mm in lower pole of the right testicle, 19×16 mm in upper pole of the right testicle, and 23×16.5 mm in upper pole of the left testicle. After having patient's consent, bilateral orchiectomy was performed by inguinal incision. Histopathologic examination and immunohistochemistry staining revealed metastasis from RCC. The most common neoplasm of reproductive system in VHL patients is epididymal papillary cystadenoma. Owing to it's benign nature, the management is conservative with routine physical examination and ultrasonography. Our patient indicated that every scrotal mass in patients with VHL is not to be considered as epididymal papillary cystadenoma.
Hyperprogressive Disease in Anorectal Melanoma Treated by PD-1 Inhibitors
Authors: Marjorie Faure, Philippe Rochigneux, Daniel Olive, Sébastien Taix, Isabelle Brenot-Rossi, Marine Gilabert
Journal: Front Immunol (2018)
Keywords: anti-pd1, hyperprogression, immune checkpoint inhibitors, immunomonitoring, melanoma
MeSH terms: Antibodies, Monoclonal, Humanized / adverse effects, Antineoplastic Agents, Immunological / adverse effects, Melanoma / drug therapy, Melanoma / pathology, Rectal Neoplasms / drug therapy, Rectal Neoplasms / pathology, Case Reports, Research Support, Non-U.S. Gov't, Aged, Disease Progression, Fatal Outcome, Humans, Male, Melanoma / immunology, Neoplasm Recurrence, Local / drug therapy, Neoplasm Recurrence, Local / immunology, Neoplasm Recurrence, Local / pathology, Rectal Neoplasms / immunology, Antibodies, Monoclonal, Humanized, Antineoplastic Agents, Immunological, pembrolizumab

The 5-year survival rate of primary anorectal malignant melanoma is less than 20%. Optimal treatment of this condition remains controversial regarding locally disease, and whether any preferential survival benefit arises from either abdominoperineal resection or wide local excision remains unknown. The majority of patients progress to metastatic disease, and for decades, the use of chemotherapies, such as platines or dacarbazine, has been advocated to improve overall survival. The therapeutic use of new checkpoint inhibitors in a variety of trials has provided evidence for an antitumoral effect of PD-1 and/or CTL4 inhibitors in mucosal melanomas, but these treatments must still be further evaluated. Some anecdotal occurrences of rapid progression [i.e., hyperprogressive disease (HPD)] while using these immune agents have been described, suggesting potentially deleterious effects of these drugs for some patients. We report a 77-year-old male metastatic anorectal melanoma patient presenting with HPD over 2 months of a PD1 inhibitor treatment course and document this HPD blood phenotype.
Vestibular paroxysmia associated with congenital vascular malformation: A case report
Authors: Fei Liu, Zheng Zhang, Wan Wei, Lin Jiang
Journal: Front Neurosci (2023)
Keywords: anterior inferior cerebellar artery, case, congenital vascular malformation, vertebral artery, vestibular paroxysmia
MeSH terms: Case Reports

Vestibular paroxysmia (VP) is an uncommon paroxysmal disease, characterized by vertigo, tinnitus, and postural unsteadiness. The main reason of VP is neurovascular cross compression, while few cases of VP accompanied with congenital vascular malformation were reported. Here, we describe a 22-year-old patient with VP caused by congenital anterior inferior cerebellar artery (AICA) malformation who completely recovered after taking oral medicine. This report shows that VP caused by congenital vascular malformation can occur in adults and that oral medication is effective.
Improvement of Bone Health and Initiation of Puberty Development in Camurati-Engelmann Disease With Glucocorticoid and Losartan Treatment: A Case Report and Review of Literature
Authors: Lijia Cui, Qian Li, Wenmin Guan, Wei Yu, Xiang Li, Weibo Xia, Yan Jiang
Journal: Front Endocrinol (Lausanne) (2022)
Keywords: angiotensin receptor ii blocker, bone mass, hypogonadotropic hypogonadism, prednisone, progressive diaphyseal dysplasia
MeSH terms: Camurati-Engelmann Syndrome / diagnostic imaging, Camurati-Engelmann Syndrome / drug therapy, Camurati-Engelmann Syndrome / genetics, Case Reports, Review, Research Support, Non-U.S. Gov't, Adolescent, Angiotensin Receptor Antagonists, Angiotensin-Converting Enzyme Inhibitors, Bone Density, Female, Glucocorticoids / therapeutic use, Humans, Losartan / therapeutic use, Pain, Puberty, Angiotensin Receptor Antagonists, Angiotensin-Converting Enzyme Inhibitors, Glucocorticoids, Losartan

Camurati-Engelmann Disease (CED) is a rare sclerosing bone disease, sometimes associated delayed puberty. The treatment effect of glucocorticoid and angiotensin II receptor blocker (ARB) in bone health and puberty development remain unclear. We report a case of an 18-year-old girl who presented for a history of an enlarged head, pain of lower limbs, and no menstrual onset or breast development. Radiographs revealed thickening of skull and cortices in the diaphysis but sparse bone trabeculae in the spine and metaphysis. Sanger sequencing detected a mutation of c. 652C>T (p. R218C) in the gene TGFB1 and confirmed the diagnosis of CED. After treatment of a medium-to-small dosage of prednisone and losartan for 28 months, we observed improvement of bone mass in spine and hip and body fat mass and found initiation of puberty development. By a systemic review of current treatment strategies in patients with CED, we found that most cases reported relief of bone pain with treatment of glucocorticoid or ARB, but none has reported the outcome of hypogonadotropic hypogonadism. We propose that long-term use of glucocorticoid combined with ARB may inhibit the activation of TGFβ1 in CED, improve adipogenesis, and thus initiate puberty development and improve the bone mass in spine and hip.
Very late relapse of testicular tumour in combination with renal cancer and their retroperitoneoscopic removal
Authors: Mihály Murányi, Morshed Ali Salah, Béla Tállai, Mátyás Benyó, Tibor Flaskó
Journal: Case Rep Med (2011)
MeSH terms: Case Reports

Late relapse of a testicular cancer is an uncommon occurrence. We report a case of late relapse of a testicular tumour combined with a renal cancer and their successful removal with retroperitoneoscopy. The 36-year-old patient underwent left orchiectomy, retroperitoneal lymph node dissection, and chemotherapy, because of mixed tumor including teratoma and embryonal carcinoma. 18 years after the successful primary therapy elevated serum alpha-fetoprotein level had been confirmed, then MRI and PET-CT scans demonstrated a 30 mm left renal mass and 22 mm retroperitoneal lymph node above the bifurcation of the left common iliac artery. We performed retroperitoneoscopic lymph node dissection and left renal tumour resection in the same session. The histology revealed embryonal carcinoma for the retroperitoneal lymph node and renal cell carcinoma for the left renal mass. We can conclude that late followup of patients with testicular tumour is important. Retroperitoneoscopy is feasible approach for the removal of retroperitoneal lymph node metastasis and resection of renal tumor.
Diffusion-weighted MR imaging and assessment of ovarian carcinomas with vaginal deposit accidentally detected during pregnancy
Authors: Soha Hamed, Rasha Kamal, Mamdouh Sheeba, Marwan Mohamed El-Toukhy, Sahar Mansour
Journal: BJR Case Rep (2016)
MeSH terms: Case Reports

Ovarian cancer during pregnancy is a complex situation that endangers the lives of both the pregnant female and the fetus. We present a 40-year-old pregnant female in the third trimester with bilateral undifferentiated ovarian adenocarcinoma and vaginal metastasis. The case was evaluated by ultrasound and MRI supported with diffusion-weighted sequence.
Reconstruction after external hemipelvectomy using tibia-hindfoot rotationplasty with calcaneo-sacral fixation
Authors: George Yx Kong, Hannes A Rudiger, Eugene Th Ek, Wayne A Morrison, Peter Fm Choong
Journal: Int Semin Surg Oncol (2008)

Background:
External hemipelvectomy is associated with high post operative morbidity and a poor functional outcome. We aim to explore a reconstruction technique to improve function and post operative appearance for patients who undergo external hemipelvectomy.
Case presentation:
We present a Case where extensive cancer involvement of pelvis and femur was managed with a novel surgical technique, which involved a calf sparing modified anterior flap hemipelvectomy combined with rotationplasty of the spared calf and fixation of calcaneus to the sacrum, thereby recreating a new thigh stump.
Conclusion:
Tibia-hindfoot rotationplasty result in good functional outcome and appearance for selected patients undergoing external hemipelvectomy with unaffected external iliac and femoral vessels.
Congenital central hypoventilation syndrome associated with Hirschsprung's Disease: case report and literature review
Authors: Renata Lazari Sandoval, Carlos Moreno Zaconeta, Paulo Roberto Margotto, Maria Teresinha de Oliveira Cardoso, Evely Mirella Santos França, Cristina Touguinha Neves Medina, Talyta Matos Canó, Aline Saliba de Faria
Journal: Rev Paul Pediatr (2016)
Keywords: congenital central hypoventilation syndrome, doença de hirschsprung, gene phox2b, haddad syndrome, hirschsprung's disease, ondine syndrome, phox2b gene, síndrome de haddad, síndrome de ondine, síndrome de hipoventilação central congênita
MeSH terms: Hypoventilation / congenital, Sleep Apnea, Central / complications, Case Reports, Review, Hirschsprung Disease, Humans, Hypoventilation / complications, Infant, Newborn, Male, Congenital central hypoventilation syndrome

Objective:
To report the case of a newborn with recurrent episodes of apnea, diagnosed with Congenital Central hypoventilation syndrome (CCHS) associated with Hirschsprung's disease (HD), configuring Haddad syndrome.
Case description:
Third child born at full-term to a non-consanguineous couple through normal delivery without complications, with appropriate weight and length for gestational age. Soon after birth he started to show bradypnea, bradycardia and cyanosis, being submitted to tracheal intubation and started empiric antibiotic therapy for suspected early neonatal sepsis. During hospitalization in the NICU, he showed difficulty to undergo extubation due to episodes of desaturation during sleep and wakefulness. He had recurrent episodes of hypoglycemia, hyperglycemia, metabolic acidosis, abdominal distension, leukocytosis, increase in C-reactive protein levels, with negative blood cultures and suspected inborn error of metabolism. At 2 months of age he was diagnosed with long-segment Hirschsprung's disease and was submitted to segment resection and colostomy through Hartmann's procedure. A genetic research was performed by polymerase chain reaction for CCHS screening, which showed the mutated allele of PHOX2B gene, confirming the diagnosis.
Comments:
This is a rare genetic, autosomal dominant disease, caused by mutation in PHOX2B gene, located in chromosome band 4p12, which results in autonomic nervous system dysfunction. CCHS can also occur with Hirschsprung's disease and tumors derived from the neural crest. There is a correlation between phenotype and genotype, as well as high intrafamilial phenotypic variability. In the neonatal period it can simulate cases of sepsis and inborn errors of metabolism.
A Severe Case of Lymphomatoid Papulosis Type E Successfully Treated with Interferon-Alfa 2a
Authors: Aslı Bilgiç Temel, Betül Unal, Hatice Erdi Şanlı, Şeniz Duygulu, Soner Uzun
Journal: Case Rep Dermatol Med (2017)
MeSH terms: Case Reports

Lymphomatoid papulosis (LyP) is a benign papulonodular skin eruption with histologic features of malignant lymphoma. A new variant of LyP which was termed "type E" was recently described with similar clinical and histological features to angiocentric and angiodestructive T-cell lymphoma. LyP type E is characterized with recurrent papulonodular lesions which rapidly turn into hemorrhagic necrotic ulcers and spontaneous regression by leaving a scar. None of the available treatment modalities affects the natural course of LyP. For therapy various modalities have been used such as topical and systemic steroids, PUVA, methotrexate, bexarotene, and IFN alfa-2b. Here we present a severe and devastating case with a very rare variant of LyP type E, which is, to our knowledge, the first case successfully treated with IFN alfa-2a. Now disease has been maintaining its remission status for six months.
Streptococcus agalactiae Septic Arthritis of the Shoulder and the Sacroiliac Joints: A Case Report
Authors: Yahia Z Imam, Housam Aldeen Sarakbi, Nagui Abdelwahab, Issa Mattar
Journal: Case Rep Rheumatol (2012)

Invasive group beta-streptococcal arthritis is being increasingly diagnosed as suggested by recent data. We report a case of a middle-aged lady from Sri Lanka who developed septic arthritis of the right shoulder and the left sacroiliac joint as well as an iliopsoas collection caused by Streptococcus agalactiae shortly after labor at Hamad General Hospital in Doha, Qatar. We conclude that Streptococcus agalactiae septic arthritis is rare. It can present with invasive disease in adults. It usually targets older females and immuno compromised patients especially those with risk factors for bacteraemia. Therefore a high index of suspicion is needed. Shoulder and sacroiliac joint affection is not uncommon for unknown reasons. Utilizing imaging modalities such as ultrasonography and magnetic resonance imaging is helpful.