OpenMed/multicare-articles huggingface dataset:
SAPHO Syndrome Complicated by Lesions of the Central Nervous System Successfully Treated with Brodalumab
Authors: Masahide Funabiki, Masayuki Tahara, Seiko Kondo, Naho Ayuzawa, Hidetoshi Yanagida
Journal: Case Rep Rheumatol (2023)
MeSH terms: Case Reports

Synovitis-acne-pustulosis-hyperostosis-osteitis (SAPHO) syndrome is a rare disease with an unknown entity that affects the skin and the peripheral and/or axial joints. Here, we report on a patient with SAPHO syndrome complicated by lesions of the central nervous system who was successfully treated with brodalumab, an IL-17 receptor blocker. He had been suffering from arthralgia in the wrists and knees as well as axial symptoms such as back pain and assimilation of cervical vertebrae. He had been treated with corticosteroid, salazosulfapyridine, methotrexate, and bisphosphonate; however, his peripheral and axial articular manifestation were intractable. Recently, biologics predominantly targeting TNF-α is employed for difficult-to-treat SAPHO cases; however, he had been complicated with the lesions of the central nervous system resembling multiple sclerosis (MS), an inflammatory demyelinating disorder in the central nervous system, for which application of TNF-α inhibitor is contraindicated. Alternatively, brodalumab was administered , which promptly ameliorated the articular manifestations without aggravating the lesions of the central nervous system. We propose that this type of IL-17 blockade could be an alternative therapy for DMARDs-resistant SAPHO syndrome.
Case Report: Two Monochorionic Twins With a Critically Different Course of Progressive Osseus Heteroplasia
Authors: Antonio José Justicia-Grande, Jose Gómez-Ríal, Irene Rivero-Calle, Sara Pischedda, María José Curras-Tuala, Alberto Gómez-Carballa, Miriam Cebey-López, Jacobo Pardo-Seco, Roberto Méndez-Gallart, María José Fernández-Seara, Antonio Salas, Federico Martinón-Torres
Journal: Front Pediatr (2021)
Keywords: poh, genetic diseases, monochorionic twins, progressive osseous heteroplasia, treatment
MeSH terms: Case Reports

Progressive osseous heteroplasia (POH; OMIM 166350) is a rare autosomal-dominant genetic disorder in which extra-skeletal bone forms within skin and muscle tissue. POH is one of the clinical manifestations of an inactivating mutation in the GNAS gene. GNAS gene alterations are difficult matter to address, as GNAS alleles show genetic imprinting and produce several transcript products, and the same mutation may lead to strikingly different phenotypes. Also, most of the publications concerning POH patients are either clinical depictions of a case (or a case series), descriptions of their genetic background, or a tentative correlation of both clinical and molecular findings. Treatment for POH is rarely addressed, and POH still lacks therapeutic options. We describe a unique case of POH in two monochorionic twins, who presented an almost asymptomatic vs. the severe clinical course, despite sharing the same mutation and genetic background. We also report the results of the therapeutic interventions currently available for heterotopic ossification in the patient with the severe course. This article not only critically supports the assumption that the POH course is strongly influenced by factors beyond genetic background but also remarks the lack of options for patients suffering an orphan disease, even after testing drugs with promising in vitro results.
Adolescent triple-negative breast cancer with germline pathogenic variants in both BRCA1 and TP53 genes: A case report
Authors: Dongmei Chen, Chenyang Zhang, Mengqi Yuan, Ying Zhang, Qing Liu, Donggui Wan
Journal: Front Oncol (2022)
Keywords: brca1/2, tp53, gene mutation, triple-negative breast cancer, young breast cancer
MeSH terms: Case Reports

Almost 5-10% of breast cancer results from inherited genetic pathogenic variants. Patients with pathogenic variants in high-penetrance genes such as TP53, BRCA1 and BRCA2 are susceptible to breast cancer. Moreover, nearly 80% of BRCA pathogenic variants carriers are diagnosed with breast cancer at a young age before menopause. There is currently no report of early onset breast cancer with germline pathogenic variants in both BRCA1 and TP53 genes. Here, we report a case of a 14-years-old female diagnosed with triple-negative breast cancer with a family history of malignant tumors. The cancer metastasized to multiple lymph nodes 1 year and 4 months after surgery, and the progression-free survival after subsequent chemotherapy and surgery has been 2 years and 10 months. The patient's white blood cells were screened against a panel of 11 cancer-related genes, and both germline pathogenic variants in BRCA1 and TP53 were identified. Genetic tests of her family members revealed the same pathogenic variants in BRCA1 in her father and brother, but BRCA1 pathogenic variants wasn't shown in other family members. The case indicates that genetic testing needs be performed in early onset breast cancer to confirm inherited risk, and if a germline pathogenic variant is identified, tailored therapeutic interventions and preventive interventions should be taken and genetic testing is recommended for relatives.
Clostridioides difficile Enteritis Induced Anastomotic Rupture: A Case Report and Literature Review
Authors: David R Velez, Mentor Ahmeti
Journal: Case Rep Surg (2020)
MeSH terms: Case Reports

Background. A 76-year-old male patient who suffered small bowel anastomotic dehiscence believed to be a complication provoked by Clostridioides difficile enteritis. Case Presentation. The patient was a 76-year-old male who underwent small bowel resection with primary anastomosis for a small bowel obstruction. On postoperative day #7, he rapidly decompensated and upon return to the operating room was found to have complete anastomotic dehiscence with copious enteric spillage. The presentation appeared as if the staple line had burst open. Enteric contents confirmed the diagnosis of Clostridioides difficile enteritis. Subsequent hospital course was complicated by ventilatory-dependent respiratory failure, hemodynamic instability, and persistent anemia secondary to gastric ulcer requiring endoscopic cauterization. After a prolonged hospital course, he eventually progressed and was transferred to a skilled nursing facility on hospital day #42. Discussion. Clostridioides difficile causes inflammation and copious large volume secretions that would theoretically increase intraluminal pressures creating an internal tension. This tension along with other factors from the infection itself would likely be inhibitory of anastomotic healing. Although it is rare, Clostridioides difficile enteritis is being reported with increasing frequency, and in the setting of recent small bowel anastomosis, it should be considered a possible risk factor for anastomotic leak.
Altruism, Environmental Concerns, and Pro-environmental Behaviors of Urban Residents: A Case Study in a Typical Chinese City
Authors: Ying Xu, Wanxin Li, Shangxin Chi
Journal: Front Psychol (2021)
Keywords: china, altruism, environmental behaviors, environmental concerns, individual participation, organizational participation, policy participation

To investigate the relationships between altruism, environmental concerns, and ordinary people's pro-environmental behaviors that go beyond self-interested NIMBY-ism, we examined measurements of altruism and environmental concerns in a Chinese context and developed a scale that measured people's pro-environmental behaviors at the individual, organizational, and policy level. We then conducted a tailor-made, face-to-face survey (N = 603) and found, first, that old age, gender (being a woman), party affiliation, and education level are positively associated with pro-environmental behaviors at the individual, organizational, and policy levels. We next found that human domination worldviews are negatively associated with individual- and organizational-level pro-environmental behaviors and that eco-centric worldviews are positively associated with individual-level pro-environmental behaviors. Third, we found that altruistic behaviors (prosocial behaviors and/or donations) are positively associated with pro-environmental behaviors. In short, awareness of the ecological crisis and altruism can stimulate people's pro-environmental behaviors in China. Meanwhile, it is doubtful that people care more for the environment after their living standards have improved, because socioeconomic status indicators are not statistically significant for individual-level pro-environmental behaviors.
Treatment of Fragile X Syndrome with Cannabidiol: A Case Series Study and Brief Review of the Literature
Authors: Nicole Tartaglia, Marcel Bonn-Miller, Randi Hagerman
Journal: Cannabis Cannabinoid Res (2019)
Keywords: cbd, cannabidiol, endocannabinoid system, fragile x syndrome, oral solution
MeSH terms: Review

Fragile X syndrome (FXS) is an X-linked dominant disorder caused by a mutation in the fragile X mental retardation 1 gene. Cannabidiol (CBD) is an exogenous phytocannabinoid with therapeutic potential for individuals with anxiety, poor sleep, and cognitive deficits, as well as populations with endocannabinoid deficiencies, such as those who suffer from FXS. The objective of this study was to provide a brief narrative review of recent literature on endocannabinoids and FXS and to present a case series describing three patients with FXS who were treated with oral CBD-enriched (CBD+) solutions. We review recent animal and human studies of endocannabinoids in FXS and present the cases of one child and two adults with FXS who were treated with various oral botanical CBD+ solutions delivering doses of 32.0 to 63.9 mg daily. Multiple experimental and clinical models of FXS combine to highlight the therapeutic potential of CBD for management of FXS. All three patients described in the case series exhibited functional benefit following the use of oral CBD+ solutions, including noticeable reductions in social avoidance and anxiety, as well as improvements in sleep, feeding, motor coordination, language skills, anxiety, and sensory processing. Two of the described patients exhibited a reemergence of a number of FXS symptoms following cessation of CBD+ treatment (e.g., anxiety), which then improved again after reintroduction of CBD+ treatment. Findings highlight the importance of exploring the therapeutic potential of CBD within the context of rigorous clinical trials.
Downbeat nystagmus induced by sedation in LASIK
Authors: Miguel Paciuc-Beja, Gerardo Mendieta
Journal: Case Rep Ophthalmol Med (2012)
MeSH terms: Case Reports

Nystagmus was elicited during lasik under sedation in two patients that were treated for depression. Nystagmus was not present before or after surgery. Nystagmus can be pharmacologically induced and can be a hazard to refractive surgery.
Single Agent Lenalidomide Activity in Multiple Myeloma Relapse Evidenced Uniquely by CT/PET
Authors: Alessandro Gozzetti, Vania Rossi, Alfonso Cerase, Giulia Papini, Marzia Defina, Monica Bocchia
Journal: Mediterr J Hematol Infect Dis (2012)
MeSH terms: Case Reports

A 71 year old female with multiple myeloma presented with back pain seven year after autologous stem cell transplant. Skeletal bone survey and magnetic resonance imaging did not show a relapse that was evidenced by CT/PET. Lenalidomide as single agent induced a complete disappearance of the lesions 6 months later and confirmed after one year at CT/PET.
A very long foreign body in the bladder
Authors: Atsushi Imai, Yuichiro Suzuki, Yasuhiro Hashimoto, Atsushi Sasaki, Hisao Saitoh, Chikara Ohyama
Journal: Adv Urol (2011)
MeSH terms: Case Reports

In the urinary tract, foreign body is most commonly found in the urinary bladder. But it is anatomically very difficult for a man to self-insert a long object into the urinary bladder. Here we report a case of a 49-year-old Japanese man who has inserted a 140-cm vinyl tube in the bladder for masturbation. He could not retrieve it, and the bladder foreign body remained in this position for about two years. He was referred to our hospital and open surgery was performed.
HHV-8-Associated Lymphoproliferative Disorders and Pathogenesis in an HIV-Positive Patient
Authors: Carlo Guerrero, Tania Jain, Katalin Kelemen
Journal: Case Rep Hematol (2019)
MeSH terms: Case Reports

Human herpesvirus 8 (HHV-8), also known as Kaposi's sarcoma-associated herpesvirus, is a DNA oncovirus known for its role in the development of Kaposi's sarcoma (KS) and several lymphoproliferative disorders (LPDs). HHV-8 promotes lymphoproliferation via the activation of the interleukin-6 receptor signaling pathway, as well as a host of other regulatory mechanisms. The spectrum of HHV-8-associated LPDs is increasing. The World Health Organization has recently updated the classification of HHV-8-associated LPDs by introducing HHV-8-positive germinotropic LPD (GLPD) in addition to the previously recognized entities of HHV-8-positive diffuse large B-cell lymphoma, not otherwise specified (DLBCL, NOS), primary effusion lymphoma (PEL), and HHV-8-positive multicentric Castleman's disease (MCD). We present here a case of an HIV-positive woman with a history of KS, who later developed three HHV-8-associated LPDs, including HHV-8-positive MCD, PEL, and GLPD. To the best of our knowledge, this is the first reported case of a patient with this combination of individually rare HHV-8-associated LPDs. This case illustrates the spectrum and the sequential development of the different clinical manifestations of HHV-8-associated diseases. Detection of HHV-8 can have clinical significance in the diagnosis and management of certain HHV-8-associated conditions. Recently discovered variants of HHV-8-associated LPDs indicate that this group represents a diverse spectrum of disorders, whose classification may require further refinement beyond the currently recognized entities.
Epidural brain metastases in a patient with early onset pancreatic cancer: a case report and literature review
Authors: Aibek E Mirrakhimov, Farah N Khan
Journal: Case Rep Oncol Med (2012)

We present a case of early onset pancreatic cancer related extra-axial brain metastases. A 46-year-old Caucasian non-Jewish nonobese male with a history of PC diagnosed 3 months ago with metastases to the liver, omentum, malignant ascites, and a history of a pulmonary embolism was admitted to the hospital because of a new onset headache, nausea, and vomiting which started 2 days prior to the encounter. Brain MRI was ordered, which showed acute bihemispheric subdural hematomas and left hemispheric extra-axial heterogeneously enhancing lesions consisting with metastatic disease. The patient was started on ondansentron, metoclopramide, and dexamethasone. The cranial irradiation was started, and the patient's headache and nausea significantly improved. There are only 9 published reports of extra-axial brain metastases related to the pancreatic cancer, whereas our paper is the first such case reported on a patient with epidural metastases and early onset pancreatic cancer.
Pulmonary metastasis presenting as a ground glass opacity-like lesion with a thin-walled cavity: A case report
Authors: Akira Haro, Sho Wakasu, Kazuki Takada, Atsushi Osoegawa, Takeshi Kamitani, Tetsuzo Tagawa, Masaki Mori
Journal: Int J Surg Case Rep (2019)
Keywords: ground glass opacity, lymph node metastasis, pulmonary metastasis, squamous cell carcinoma, thin-walled cavity, tongue cancer

Introduction:
Most of pulmonary metastases present as well-defined solid and round nodules. Here we report a case of a pulmonary metastasis presenting as a ground glass opacity (GGO)-like lesion with a thin-walled cavity and lymph node metastasis of tongue cancer.
Case presentaion:
A 22-year-old man was referred to our department for surgical diagnosis and treatment for a GGO-like pulmonary nodule with a thin-walled cavity in the right lower lobe. He had a history of surgical resection for tongue cancer. The size of the GGO-like lesion with a thin-walled cavity in the center gradually increased. A right lower lobectomy and hilar lymphadenectomy were performed. Postoperative pathology revealed the lesion as pulmonary metastasis and hilar lymph node metastasis of tongue cancer.
Discussion:
Our case report of pulmonary metastasis of tongue cancer is rare from the viewpoint of pulmonary GGO-like lesions with a following thin-walled cavity and hilar lymph node metastasis. The positron emission tomography/computed tomography (PET/CT) examination was useful to show right hilar lymph node metastasis.
Conclusion:
It is important to make a differential diagnosis of from the pulmonary nodule in case of a GGO-like lesion with a thin-walled cavity.
Nonoperative Management of Multiple Penetrating Cardiac and Colon Wounds from a Shotgun: A Case Report and Literature Review
Authors: Paula M Jaramillo, Jaime A Montoya, David A Mejia, Salin Pereira Warr
Journal: Case Rep Surg (2018)
MeSH terms: Case Reports

Introduction:
Surgery for cardiac trauma is considered fatal and for wounds of the colon by associated sepsis is normally considered; however, conservative management of many traumatic lesions of different injured organs has progressed over the years.
Presentation of the case:
A 65-year-old male patient presented with multiple shotgun wounds on the left upper limb, thorax, and abdomen. On evaluation, he was hemodynamically stable with normal sinus rhythm and normal blood pressure, no dyspnea, or abdominal pain. Computed tomography (CT) scan of the chest shows hematoma around the aorta without injury to the blood vessel wall with an intramyocardial projectile without pericardial effusion. CT scan of the abdomen showed pellets in the transverse colon and descending colon endoluminal without extravasation of contrast medium or intra-abdominal fluid. The patient remains hemodynamically stable, and nonsurgical procedure was established.
Discussion:
Patients with asymptomatic intramyocardial projectiles can be safely managed without surgery. Nonsurgical management is only possible in asymptomatic patients with trauma of the colon through close surveillance and with very selective patients since standard management is surgery.
Conclusion:
Nonsurgical management of cardiac trauma, as well as colon penetrating trauma, can be performed in carefully selected patients with proper clinical follow-up, imaging, and laboratory studies.
Transit time flow measurement guiding the surgical treatment for anomalous origin of the right coronary artery: A case report
Authors: Federica Jiritano, Angelo Leone, Francesco Greco, Mario Leporace, Carlo Bova, Vincenzo Aiello, Giuseppe Filiberto Serraino, Pasquale Mastroroberto
Journal: Front Cardiovasc Med (2022)
Keywords: acaos, anomalous coronary artery anatomy, case report, coronary artery, transit time flowmetry (ttfm)
MeSH terms: Case Reports

Anomalous origin of a coronary artery from the opposite sinus of Valsalva (ACAOS) in symptomatic patients is a rare but serious finding whose treatment consists of a surgical correction. The surgical treatment has a level of complexity that could vary from unroofing and ostioplasty to coronary artery bypass grafting. We present our management of a 59-year-old woman presenting with chest pain and dyspnea for right ACAOS with an interarterial route. The right coronary artery (RCA) was bypassed with the right internal thoracic artery. An intraoperative transit time flowmetry (TTFM) showed a competitive flow from the native RCA. RCA proximal ligation site was identified intraoperatively, considering the best mean graft flow (MGF) and the absence of ischemic events. The patient was discharged after a week without adverse events. The 1-year follow-up was uneventful. The intraoperative use of TTFM could guide the surgeon's hand making straightforward the surgical treatment for ACAOS.
Total Parenteral Nutrition Successfully Treating Black Esophagus Secondary to Hypovolemic Shock
Authors: Tony S Brar, Richard Helton, Zareen Zaidi
Journal: Case Rep Gastrointest Med (2017)
MeSH terms: Case Reports

We present a patient who developed black esophagus secondary to hypovolemic shock and was placed on total parenteral nutrition for three weeks after hospital discharge. The area of interest is the multimodal approach used in treatment of this noncompliant patient. Even with a high mortality rate, this case illustrates a successful outcome of a patient who responded to appropriate immediate therapy resulting in complete resolution of the necrosis with no further development of complications.
Kidney Salvage with Renal Artery Reconstruction after Blunt Traumatic Injury
Authors: David G Jackson, Phillipe Abreu, Manuel Anthony Moutinho, Antonio Marttos, George W Burke 3rd, Nicholas Namias, Gaetano Ciancio
Journal: Case Rep Urol (2020)
MeSH terms: Case Reports

Renal artery injury from blunt abdominal trauma is a rare condition that is typically managed nonoperatively in hemodynamically stable patients. Revascularization can be achieved by stenting or surgical reconstruction of the renal artery. All attempts at revascularization should minimize warm ischemic time. Here, we discuss a patient postmotor vehicle accident who presented to Ryder Trauma Center with intra-abdominal bleeding. He underwent emergency exploratory laparotomy with splenectomy and abdominal packing. Postoperative CT scan revealed a contrast nonenhancing left kidney. The patient then returned to the operating room and underwent in situ renal artery reconstruction after >4 hours of warm ischemia. The patient survived a 2-month hospital course and was discharged home after prolonged in-hospital stay and intensive care treatment. Nuclear medicine scan showed scarring and atrophy of the reattached kidney with 16.3% of overall function attributed to the affected kidney. This case shows that patients with renal artery injury can be managed operatively with arterial reconstruction. Reducing warm ischemic time is critical in preserving kidney function.