OpenMed/multicare-articles huggingface dataset:
Efficacy of Inotuzumab Ozogamicin plus Ponatinib Followed by Allogeneic Stem Cell Transplantation in a Patient with Relapsed Philadelphia Chromosome-Positive Acute Lymphoblastic Leukemia
Authors: Ilina Micheva, Vladimir Gerov, Stela Dimitrova, Merlin Efraim
Journal: Case Rep Hematol (2021)
MeSH terms: Case Reports

Philadelphia chromosome-positive acute lymphoblastic leukemia (Ph + ALL) is an aggressive disease with poor outcomes. Despite the incorporation of tyrosine kinase inhibitors (TKIs) in the therapeutic strategies, patients who relapse after chemotherapy plus TKI have poor overall survival (OS) and less chance to proceed to hematopoietic stem cell transplantation (HSCT) which remains the only curative approach. Therefore, new drugs, such as antibody-targeted therapies alone or in combination with TKIs, offer new therapeutic options for those patients. However, the combination of inotuzumab plus ponatinib has limited application. We present a case of a patient affected by Ph + ALL with T315I mutation successfully treated after early relapse with inotuzumab plus ponatinib, followed by allogeneic HSCT and ponatinib maintenance.
Characterization of a Small Supernumerary Marker Chromosome Derived from Xq28 and 14q11.2 Detected Prenatally
Authors: Akihiro Hasegawa, Osamu Samura, Taisuke Sato, Tomona Matsuoka, Yuki Ito, Kazuhiro Kajiwara, Hiroaki Aoki, Yuka Inage, Masahisa Kobayashi, Aikou Okamoto
Journal: Case Rep Obstet Gynecol (2018)
MeSH terms: Case Reports

We present the characterization of a case with a small supernumerary marker chromosome (sSMC) detected prenatally derived from Xq28 and 14q11.2 maternal translocation. A 33-year-old Japanese woman, primigravida, underwent amniocentesis because of fetal growth restriction and fetal structural abnormality at 30 weeks of gestation. The fetal karyotype was identified as 47,XY,+mar. Additionally, the single nucleotide polymorphism array analysis revealed copy number gains at Xq28 and 14q11.2. A male infant, weighing 1,391 g, was delivered at term by cesarean section. Maternal and paternal karyotypes were 46,X,t(X; 14)(q28; q11) and 46,XY, respectively. These findings indicated that the sSMC might have originated from chromosome disjunction at a ratio of three to one. Here we describe a case with an sSMC derived from Xq28 and 14q11.2. Our findings suggest that this sSMC is most likely pathogenic. The collection of additional cases may be required.
Trichorionic quadruplet delivered beyond 36 weeks of gestation: a case report and literature review
Authors: Fawaz E Edris
Journal: Case Rep Obstet Gynecol (2011)
MeSH terms: Case Reports

Following one year of secondary fertility, a couple conceived with a quadruplet after transfer of three embryos through IVF-ICSI. At 36 weeks and 2 days of gestation, the mother developed gestational induced hypertension and delivered the next day by caesarean section. Pathology confirmed the zygosity to be trichorionic quadramniotic and all four babies were discharged home with their mother on postoperative day 3. Herein, we describe a successfully managed high-risk pregnancy case. A review of the literature was conducted and to our knowledge no other cases with similar criteria ever reached such advanced gestational age.
Dorsal Root Entry Zone Lesioning for Brachial Plexus Avulsion Injuries: Case Series and Literature Review
Authors: Alan Chalil, Qian Wang, Mohamad Abbass, Brendan G Santyr, Keith W MacDougall, Michael D Staudt
Journal: Front Pain Res (Lausanne) (2021)
Keywords: drezotomy, brachial plexus avulsion, brachial plexus injury, deafferentation pain, dorsal root entry zone lesioning, neuropathic pain

Introduction: Brachial plexus avulsion (BPA) injuries commonly occur secondary to motor vehicle collisions, usually in the young adult population. These injuries are associated with significant morbidity, and up to 90% of patients suffer from deafferentation pain. Neuromodulation procedures can be efficacious in the treatment of refractory neuropathic pain, although the treatment of pain due to BPA can be challenging. Dorsal root entry zone (DREZ) lesioning is a classical and effective neurosurgical technique which has become underutilized in treating refractory root avulsion pain. Methods: A systematic review of the different technical nuances, procedural efficacy, and complication profiles regarding DREZ lesioning for BPA injuries in the literature is included. We also present an institutional case series of 7 patients with BPA injuries who underwent DREZ lesioning. Results: In the literature, 692 patients were identified to have undergone DREZ lesioning for pain related to BPA. In 567 patients, the surgery was successful in reducing pain intensity by over 50% in comparison to baseline (81.9%). Complications included transient motor deficits (11%) and transient sensory deficits (11%). Other complications including permanent disability, cardiovascular complications, infections, or death were rare (<1.9%). In our case series, all but one patient achieved >50% reduction in pain intensity, with the mean pre-operative pain of 7.9 ± 0.63 (visual analog scale) reduced to 2.1 ± 0.99 at last follow-up (p < 0.01). Conclusion: Both the literature and the current case series demonstrate excellent pain severity reduction following DREZ ablation for deafferentation pain secondary to BPA.
Askin's tumor: a case report and literature review
Authors: Zineb Benbrahim, Samia Arifi, Khaoula Daoudi, Mounia Serraj, Bouchra Amara, Mohammed Chakib Benjelloun, Nawfel Mellas, Omar El Mesbahi
Journal: World J Surg Oncol (2013)
MeSH terms: Antineoplastic Combined Chemotherapy Protocols / therapeutic use, Bone Neoplasms / diagnosis, Sarcoma, Ewing / diagnosis, Case Reports, Review, Adolescent, Adult, Bone Neoplasms / drug therapy, Female, Humans, Prognosis, Review Literature as Topic, Sarcoma, Ewing / drug therapy, Tomography, X-Ray Computed, Askin Tumor

Askin's tumor is a primitive neuroectodermal tumor developing from the soft tissues of the chest wall. Its diagnosis approach is complex and requires a multidisciplinary team. Given the rarity of this entity, no regimen has been validated in the literature. We report two cases of Askin's tumor with a major response to polychemotherapy and surgical resection in one case. These cases show that treatment of Askin's tumor should be multimodal, requiring discussion in multidisciplinary tumor working groups.
Extramammary Paget's disease
Authors: Andres Vasquez, Cristina Dominguez, Mariam Rolon
Journal: BJR Case Rep (2016)
MeSH terms: Case Reports

The purpose of this report is to describe an unusual case of extramammary Paget's disease with urethral and lymph node infiltration and demonstrate the role of MRI in the pre-operative period for the assessment, management and prognosis of the disease. Although skin wrinkles on MRI may be misinterpreted based on observer's experience, it correlates well with pathology and may provide an accurate assessment before interventional therapy.
EWSR1::SMAD3-rearranged fibroblastic tumor: A case with twice recurrence and literature review
Authors: Li Yang, Linni Fan, Zhiyong Yin, Yixiong Liu, Danhui Zhao, Zhe Wang, Hong Cheng
Journal: Front Oncol (2022)
Keywords: erg, ewsr1, smad3, case report, fibroblastic tumor
MeSH terms: Case Reports

EWSR1::SMAD3-rearranged fibroblastic tumor is a recently described entity that mostly occurs in acral locations. Only 15 cases have been reported in the English literature, with a wide age range and marked female predominance. The most common sites are the foot, followed by the hand and the distal lower leg. There are four cases that recurred locally during 5-120 months of follow-up, with no metastases to date. Herein, we presented a case of EWSR1::SMAD3-rearranged fibroblastic tumor that recurred twice in a 20-year-old man. The patient presented with a second recurrent painful nodule in the left plantar of the second toe. Grossly, the lesion was pale solid and well-defined, measuring 9 × 8 × 9 mm in size. Histological examination revealed a monomorphic spindle cell tumor composed of cellular fascicles of bland fibroblasts in a collagenous to myxoid stroma with low mitotic activity, which evoked a wide spectrum of differential diagnoses. Immunohistochemically, the tumor cells were diffusely and strongly positive for ERG while negative for S100, α-SMA, CD34, and other vascular markers. An unbalanced rearrangement of EWSR1 was demonstrated by fluorescence in situ hybridization (FISH), and a gene fusion between EWSR1 exon 7 and SMAD3 exon 6 was confirmed by RT-PCR and Sanger sequencing. This case recurred twice within 6 years with no sign of further relapse and metastasis at another 9-month follow-up since the last surgery, indicating that this tumor was benign but prone to local recurrence. Nevertheless, more cases and further studies are needed to better interpret the biological behavior of this new entity.
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review
Authors: Weijie Chen, Yuanyuan Wang, Shengwen Huang, Xiaoli Yang, Liwei Shen, Danhong Wu
Journal: Front Neurol (2022)
Keywords: htra1, cerebral small vessel disease, heterozygous mutations, ischemic stroke, nonsense
MeSH terms: Case Reports

Background:
Homozygous or compound heterozygous mutations in the high-temperature requirement A serine protease 1 gene (HTRA1) elicits cerebral autosomal recessive arteriopathy with subcortical infarcts and white matter lesions (CARASIL). The relationship between some heterozygous mutations, most of which are missense ones, and the occurrence of cerebral small vessel diseases (CSVD) has been reported. Recently, heterozygous HTRA1 nonsense mutations have been recognized to be pathogenic.
Case presentation:
We described two Chinese patients diagnosed with HTRA1-CSVD accompanied by heterozygous nonsense mutations. Their first clinical manifestations were symptoms due to ischemic stroke, and brain Magnetic Resonance Imaging (MRI) showed diffuse white matter lesions (WMLs) and microbleeds in both of them. Genetic sequencing revealed two novel heterozygous nonsense mutations: c.1096G>T (p.E366X) and c.151G>T (p.E51X).
Conclusion:
This case report expands the clinical, radiographic, and genetic spectrum of HTRA1-CSVD. Attention should be paid to young patients with ischemic stroke as the first clinical manifestation. Genetic screening for such sporadic CSVD is recommended, even if the symptoms are atypical.
Pyelonephritis and Bacteremia Caused by Klebsiella variicola following Renal Transplantation
Authors: Cody Lo, Shazia Masud, Gregory D Deans
Journal: Case Rep Infect Dis (2021)
MeSH terms: Case Reports

Klebsiella variicola (K. variicola) is a Gram-negative organism genetically similar to Klebsiella pneumoniae (K. pneumoniae) that can cause a variety of diseases in humans. Bacteremia due to K. variicola is associated with a higher mortality rate than bacteremia with K. pneumoniae. Here, we describe a 65-year-old woman who developed pyelonephritis 2 months after receiving a renal transplantation following a longstanding history of end-stage renal disease secondary to polycystic kidney disease. Her creatinine on admission was unchanged from her posttransplant baseline, and an abdominal CT scan showed inflammatory changes around the transplanted kidney that were suggestive of an infection rather than allograft rejection. She was initially treated empirically with meropenem given a history of extended-spectrum beta-lactamase- (ESBL-) producing E. coli bacteriuria. After a day of therapy with meropenem, her therapy was streamlined based on culture results to ceftriaxone. She continued to improve, her kidney function remained stable, and she was prescribed oral ciprofloxacin to complete a 14-day total course of antibiotics. This case is the first reported instance of K. variicola bacteremia associated with pyelonephritis in a renal transplant recipient. Hospitalization with acute pyelonephritis within the first year following kidney transplant is common and is associated with increased risk of graft loss and mortality. However, K. variicola is not a commonly known organism to cause this infection. Despite the risk of allograft failure in this circumstance, this patient was successfully treated with a 14-day course of antibiotic therapy.
A Case of Essential Thrombocythemia and IgA Nephropathy with Literature Review of the Concurrence
Authors: Shoja Rahimian, Timothy Johnson, Ronald Herb
Journal: Case Rep Oncol Med (2019)
MeSH terms: Case Reports

Myeloproliferative neoplasms such as essential thrombocythemia (ET) have been associated with glomerular disease on rare instances. A case of ET associated with immunoglobulin A nephropathy (IgAN) is described in a 57-year-old man with a history of hypertension. Progressively worsening renal function was noted in the patient along with unexplained mild thrombocytosis. Pathological review of renal biopsy identified IgAN concurrently with newly diagnosed JAK2-mutated ET. The patient was started on aspirin therapy and closely monitored for his renal function. A literature review of the association of ET and renal disease revealed nine cases of ET associated with IgAN, focal segmental glomerulosclerosis, and fibrillary glomerulonephritis. Comparison of the pathological features of the renal biopsies within the cases noted mesangial proliferation as a common finding, which has been described to be potentiated by platelet-derived growth factor (PDGF). This commonality may represent a link between ET and glomerular disease which deserves further attention in future cases. Improved management of such cases depends on the recognition of the combined occurrence of ET and glomerular diseases and uncovering the shared pathogenesis between platelets and glomeruli.
Prenatal diagnosis of congenital mesenchymal hamartoma of liver: a case report
Authors: Sreelakshmi Kodandapani, Muralidhar V Pai, Vijay Kumar, Kanthilatha V Pai
Journal: Case Rep Obstet Gynecol (2011)
MeSH terms: Case Reports

Hepatic mesenchymal hamartoma is a rare benign tumor. We present an unusual case of a fetal abdominal cyst, later diagnosed histopathologically to be mesenchymal hamartoma of liver. The organ of origin was indeterminate on both prenatal and postnatal ultrasounds. As there are no specific sonological findings, whenever a large multicystic fetal abdominal cyst is seen, mesenchymal hamartoma should be considered as a possibility.
The Importance of Recognizing Wandering Spleen as a Cause of Recurrent Acute Pancreatitis
Authors: Vennis Lourdusamy, Dhrumil Patel, Ramon Docobo, Shyamanand Tantry, Dennis Lourdusamy, Saeed Farukh
Journal: Case Rep Gastrointest Med (2018)
MeSH terms: Case Reports

Wandering spleen, as its name suggests, is a rare condition where the spleen wanders in the abdomen and is most commonly found in the inferior quadrant as a palpable mass. It can have varying presentations and commonly presents as splenic torsion and very rarely as acute pancreatitis. It is imperative not to miss this diagnosis as it can lead to life-threatening complications in the form of splenic torsion/infarction. Here we describe a rare manifestation of wandering spleen where a young female presented with recurrent episodes of acute pancreatitis.
Improving Web searches: case study of quit-smoking Web sites for teenagers
Authors: Malcolm Koo, Harvey Skinner
Journal: J Med Internet Res (2003)
MeSH terms: Internet / standards, Internet / statistics & numerical data, Quality Assurance, Health Care / methods, Smoking Cessation / methods, Research Support, Non-U.S. Gov't, Adolescent, Health Care Surveys / methods, Health Care Surveys / statistics & numerical data, Health Education / standards, Health Education / statistics & numerical data, Humans, Information Services / standards, Information Services / statistics & numerical data, Patient Education as Topic / standards, Patient Education as Topic / statistics & numerical data, Smoking Cessation / statistics & numerical data

Background:
The Web has become an important and influential source of health information. With the vast number of Web sites on the Internet, users often resort to popular search sites when searching for information. However, little is known about the characteristics of Web sites returned by simple Web searches for information about smoking cessation for teenagers.
Objective:
To determine the characteristics of Web sites retrieved by search engines about smoking cessation for teenagers and how information quality correlates with the search ranking.
Methods:
The top 30 sites returned by 4 popular search sites in response to the search terms "teen quit smoking" were examined. The information relevance and quality characteristics of these sites were evaluated by 2 raters. Objective site characteristics were obtained using a page-analysis Web site.
Results:
Only 14 of the 30 Web sites are of direct relevance to smoking cessation for teenagers. The readability of about two-thirds of the 14 sites is below an eighth-grade school level and they ranked significantly higher (Kendall rank correlation, tau = -0.39, P =.05) in search-site results than sites with readability above or equal to that grade level. Sites that ranked higher were significantly associated with the presence of e-mail address for contact (tau = -0.46, P =.01), annotated hyperlinks to external sites (tau = -0.39, P =.04), and the presence of meta description tag (tau = -0.48, P =.002). The median link density (number of external sites that have a link to that site) of the Web pages was 6 and the maximum was 735. A higher link density was significantly associated with a higher rank (tau = -0.58, P =.02).
Conclusions:
Using simple search terms on popular search sites to look for information on smoking cessation for teenagers resulted in less than half of the sites being of direct relevance. To improve search efficiency, users could supplement results obtained from simple Web searches with human-maintained Web directories and learn to refine their searches with more advanced search syntax.
Minimally Invasive Excision of a Giant Paratubal Cyst: Case Report and Management Review
Authors: Bassem Skaff, Dani Zoorob, Rawane El Assaad, Mohamad Abou-Baker
Journal: Case Rep Obstet Gynecol (2019)
MeSH terms: Case Reports

Paratubal cysts are usually incidentally found due to being small and asymptomatic adnexal structures. Enlargement to more than 15 cm concurrent with late presentation in an adult is rare. We present the case of a 36 cm diameter cyst in a 31-year-old female whose symptoms involved overactive bladder, abdominal bloating, and pressure. Radiologic findings suggested that it extended from the xiphoid and pubic symphysis. Removal was through a minimally invasive technique.
Hydatid cyst involving the mandible ramus
Authors: Nivedhitha Maraimalai, Manisha Ahire Sardar, Kavita Wadde, Om Kharat, Shaheen Kanpurwala, Asha Chowdhar
Journal: Autops Case Rep (2023)
Keywords: echinococcosis, hydatid cysts, hydatidosis, jaw cysts
MeSH terms: Case Reports

Parasitic infections rarely involve the oral and maxillofacial regions and pose a diagnostic challenge when they do. Hydatid cysts are parasitic cysts caused by Echinococcus granulosus. Intraosseous involvement is observed in 3% of cases, of which only 2-6% are in the maxillofacial region. A scientific literature search revealed only seven cases involving the mandible. We report a rare case in a 16-year-old female patient who presented with facial asymmetry and well-defined radiolucency of the ramus. Our findings will help in understanding the diagnostic issues caused by non-specific presentation and difficulties in suspecting such a rare diagnosis as echinococcosis of the oral or maxillofacial region. A thorough systemic investigation is essential as 20-30% of these cases show multiorgan involvement.
Case Report: Cetuximab in Combination With Chemotherapy for the Treatment of Multifocal Hepatic Metastases From Colorectal Cancer Guided by Genetic Tests
Authors: Chunhui Qiu, Sidong Xie, Na Cheng, Qu Lin, Guanzhu Shen, Zhanwang Xiang, Tanxiao Huang, Xiaoni Zhang, Jingxian Duan, Li Wei, Zongheng Zheng
Journal: Front Oncol (2021)
Keywords: apc and tp53 co-mutation, wnt signal pathway, colorectal cancer, hepatic metastases, multifocal tumors
MeSH terms: Case Reports

Hepatic metastases were reported in up to 70% of colorectal cancer patients, among which multifocal hepatic metastasis represents one of the complications that lead to poor prognosis. The majority of the patients carrying multifocal hepatic metastases required pharmaceutical treatments to reduce the tumor size prior to surgical resection. However, the clinical responses to pharmaceutical agents were difficult to predict due to the heterogeneous nature of the multifocal tumors. Here, we report a case with multifocal hepatic metastases from colorectal cancer that was resistant to the primary chemotherapy and Bevacizumab plus chemotherapy, but responded to the combined therapy of Cetuximab and FOLFOX. Genetic tests had revealed that the tumor was highly metastatic due to the mutations of the WNT signaling pathway, and the metastatic tumors might be sensitive to Cetuximab. Consistent with the molecular characterizations, the metastatic tumors continue to emerge after chemotherapy, and rapidly relapsed in great numbers after liver resection. However, the combined therapy of Cetuximab and FOLFOX guided by the genetic tests significantly reduced the size and number of metastatic tumors. To conclude, deciphering the mutation profiles of multifocal metastatic tumors may guide the determination of treatment tactics, which may benefit the patients with non-resectable advanced carcinoma.
Posterior Capsular Outcomes of Pediatric Cataract Surgery With In-The-Bag Intraocular Lens Implantation
Authors: Yana Fu, Dandan Wang, Xixia Ding, Pingjun Chang, Yinying Zhao, Man Hu, Zhangliang Li, Yun-E Zhao
Journal: Front Pediatr (2022)
Keywords: anterior vitrectomy, capsulorhexis diameter, pediatric cataract surgery, posterior capsular opening area, primary in-the-bag iol implantation

Aim:
To investigate the change of posterior capsular outcomes of pediatric cataract surgery with primary in-the-bag intraocular lens (IOL) implantation.
Methods:
We conducted a case series of pediatric cataract children who underwent cataract extraction with primary in-the-bag IOL implantation, posterior capsulorhexis or vitrectorhexis, and limited anterior vitrectomy at the Eye Hospital of Wenzhou Medical University between 2016 and 2019. Digital retro-illumination photographs of pediatric eyes were obtained at baseline and 6 months, 12 months, and the last visit postoperatively. Capsular outcomes of the posterior capsular opening area (PCOA) and lens reprolifration area at those time points were compared. Correlations between the PCOA and influential factors, such as age at surgery, axial growth, and follow-up duration, were analyzed. The study was registered at register.clinicaltrials.gov (NCT04803097).
Results:
Data of 23 patients (27 eyes) were used in the final analysis. During follow-up, the PCOA enlarged at a rate of 0.29-0.32 mm2/month during the first six months postoperatively and 0.05-0.08 mm2/month over the next 1-2 years. Six months postoperatively, the PCOA enlargement statistically and positively correlated with the follow-up duration and axial growth. The area of lens reprolifration was 0.46 ± 1.00 mm2 at six months postoperatively and then remained stable.
Conclusion:
The PCOA enlarged rapidly within the first six months after the pediatric cataract surgery with primary IOL implantation. Six months postoperatively, the enlargement of PCOA was positively correlated with follow-up duration and axial growth. Posterior capsulorhexis or capsulectomy should be performed with a diameter of 3.0 to 4.0 mm for good visual axis transparency and the protection of in-the-bag IOL.