OpenMed/multicare-articles huggingface dataset:
A balloon-assisted endoscopic submucosal dissection using long colonoscope and guidewire
Authors: Yu Watahiki, Kazumasa Kawashima, Takuto Hikichi, Tadayuki Takagi, Michio Onizawa, Naohiko Gunji, Chiharu Watanabe, Jun Wada, Yuka Oka, Yuko Hashimoto, Hiromasa Ohira
Journal: DEN Open (2023)
Keywords: balloon‐assisted endoscopy, colonoscopy, endoscopic submucosal dissection, guidewire, overtube
MeSH terms: Case Reports

Balloon-assisted endoscopy enables stable endoscopic maneuverability. Balloon-assisted endoscopic submucosal dissection (BA-ESD) is useful in the treatment of proximal colorectal tumors where scope maneuverability is poor. Herein, we reported a case in which BA-ESD was successfully performed using a long colonoscope with a guidewire, although the lesion could not be reached using the balloon-assisted endoscopy technique with a therapeutic colonoscopy. A 50-year-old man underwent a colonoscopy that revealed a tumor in the ascending colon. BA-ESD was performed using a conventional therapeutic endoscope due to excessive intestinal elongation and poor endoscopic maneuverability. However, the transverse colon loop could not be reduced, and the total colonoscopy failed despite using balloon-assisted endoscopy. The scope was then changed from a conventional colonoscope to a long colonoscope, inserted into the terminal ileum, and the loop was reduced. After the guidewire was placed at the terminal ileum and the long colonoscope was removed, a therapeutic colonoscopy with an overtube was inserted into the ascending colon without reforming the colonic loop, allowing safe BA-ESD.
Case report: Two novel intergenic region-ALK fusions in non-small-cell lung cancer resistant to alectinib: A report of two cases
Authors: Shan Liao, Huiying Sun, Jianhua Wu, Hao Lu, Yisheng Fang, Yuanyuan Wang, Wangjun Liao
Journal: Front Oncol (2022)
Keywords: alectinib, anti-angiogenesis therapy, chemotherapy, intergenic region-alk fusion, next-generation-sequencing, non-small-cell lung cancer
MeSH terms: Case Reports

Background:
The anaplastic lymphoma kinase (ALK) mutation, also known as the diamond mutation in non-small-cell lung cancer (NSCLC), has been treated with tremendous success since it was first reported in 2007. Alectinib, a second generation ALK-Tyrosine kinase inhibitor (TKI), has been reported to have significantly longer progression- free survival (PFS) than first generation ALK inhibitors in untreated ALK positive NSCLC. However, the clinical efficacy of ALK-TKIs on rare ALK fusions remains unclear. In recent years, with the popularity of next-generation sequencing (NGS) technology, an increasing number of novel ALK fusion partners have been reported, but the responses are heterogeneous among different ALK fusions. Considering the inconsistent reactions, the clinical efficacy of ALK-TKIs in rare ALK gene fusions remains to be evaluated in more cases.
Methods:
To seek for individualized therapy, the tumor tissues acquired during biopsy were sent for genomic testing by NGS based on a 139-gene panel and a 425-gene panel in a centralized clinical testing center (GENESEEQ Technology Inc, Nanjing, China). See Supplementary Material for more details about the methods for DNA-based NGS, RNA-based NGS.
Results:
We present two cases of patients with lung adenocarcinoma harboring two novel Intergenic Region (IGR)-ALK rearrangements detected by DNA sequencing, which had limited clinical response to ALK-TKIs but showed sensitivity to chemotherapy combined with bevacizumab therapy in patient 2, with a PFS of over 1 year up till the last follow-up assessment.
Conclusions:
In summary, our cases emphasize the need for comprehensive molecular analysis of different ALK fusion partners at the DNA level to formulate accurate treatment strategies and provide a certain therapeutic reference for these two types of novel IGR-ALK fusions.
45, X/ 46, X, psu idic (Y) (q11.2) Mosaicism in a Primary Amenorrhea Girl with Swyer Syndrome
Authors: Yu Han, Jiebin Wu, Fangfang Tan, Jing Sha, Bei Zhang, Jingfang Zhai, Xuezhen Wang
Journal: Case Rep Genet (2023)
MeSH terms: Case Reports

The female characters with a 46, XY karyotype, historically termed Swyer syndrome, are commonly divided into complete and partial gonadal dysgenesis. The former is completely made up of the 46, XY chromosome, while the latter results from 45, X/46, XY mosaicism. Both of them are sex chromosome disorders and are typically characterized by delayed puberty and primary amenorrhea due to disruption of the embryonic gonads into testes. In this report, we described a young female with mos 45, X [2]/46, X, psu idic (Y) (q11.2) [48] by karyotyping. Further copy number variation sequencing (CNV-seq) and fluorescent in situ hybridization (FISH) verified her chromosome alteration. The following gonadectomy and hormone replacement therapy were carried out, and the menstrual cycle recovered along with the development of bilateral breasts and uteruses. Herein, we aim to provide clinical management strategies for the patient with Swyer syndrome in clinical practice.
Removal of dental implant displaced into maxillary sinus by combination of endoscopically assisted and bone repositioning techniques: a case report
Authors: Shinnosuke Nogami, Kensuke Yamauchi, Yuji Tanuma, Kenji Odashima, Aritsune Matsui, Kenko Tanaka, Tetsu Takahashi
Journal: J Med Case Rep (2016)
MeSH terms: Bone Transplantation / methods, Dental Implantation, Endosseous / adverse effects, Dental Implants / adverse effects, Foreign-Body Migration / surgery, Maxillary Sinus / surgery, Case Reports, Adult, Bone Transplantation / instrumentation, Endoscopy, Foreign-Body Migration / pathology, Humans, Male, Maxillary Sinus / pathology, Treatment Outcome, Dental Implants

Background:
Accidental displacement of a dental implant into the maxillary sinus is an infrequent although not uncommon complication encountered in dental clinical practice, with the main cause thought to be inadequate bone height in the posterior maxilla. We report a case of migration of a dental implant into the maxillary sinus, and discuss the benefits of its removal by a combination of endoscopically assisted and bone repositioning techniques.
Case presentation:
A 35-year-old Japanese man with a partially edentulous maxilla underwent implant placement at a private clinic. Three months later, at the time of abutment connection, the implant at the site of his maxillary right first molar was accidentally pushed into the sinus. The hole on the alveolar ridge made for placement of the implant was small and far from the dislocated implant, thus access was achieved in a transoral manner via the frontal wall of his maxillary sinus with an endoscopic approach. Piezoelectric instruments were used to perform an osteotomy. The bone lid was removed, and the implant was identified using a rigid endoscope and removed with a surgical aspirator, followed by repositioning of the bony segment; the area was secured with an absorbable suture. Removal of migrated implants should be considered in order to prevent possible sinusal disease complications.
Conclusions:
In the present case, removal of a dental implant displaced into the maxillary sinus by use of a combination of endoscopically assisted and bone repositioning techniques proved to be a safe and reliable procedure.
Visceral leishmaniasis associated with macrophage activation syndrome: Case report and literature review
Authors: Boutaina Mouhoub, Mohammed Bensalah, Abdelilah Berhili, Ali Azghar, Jalila El Malki, Imane El Mezgueldi, Oumaima Nassiri, Mounia Slaoui, Achraf Miri, Chaymae Rochdi, Noufissa Benajiba, Rachid Seddik
Journal: IDCases (2021)
Keywords: dic, disseminated intravascular coagulation, hlh, hemophagocytic lymphohistiocytosis, ldh, lactate dehydrogenase, mas, macrophage activation syndrome, mch, mean corpuscular hemoglobin, mgv, mean globular volume, macrophage activation syndrome, morocco, pt, prothrombin time, protozoa parasite, sand flies, vl, visceral leishmaniasis, visceral leishmaniasis
MeSH terms: Case Reports

Background:
The combination of visceral leishmaniasis (VL) and macrophage activation syndrome (MAS) makes the diagnosis difficult due to their similar clinical presentation, with a poor prognosis especially since the treatment is still poorly codified.We report the case of a 17-month-old female patient from Berkane, presenting for a 3 months history of anarchic fever with anemic syndrome made up of pallor and hemorrhagic syndrome made up of epistaxis. Physical examination revealed a temperature of 39 ° C, lower limbsedema, paleness of skin and mucous membranes, gingival petechiae, bleached hair, and hepatosplenomegaly.
Case presentation:
The complete blood count showed pancytopenia with deep aregenerative normochromic normocytic anemia at 3 g/dL, leukocytes were at 4860/mm 3 with neutropenia at 680/mm 3 and thrombocytopenia at 12.000/mm3, the blood smear was without abnormality. These anomalies were associated with a hypoalbunemia, hypertriglyceridemia, hyperferritinemia, lactate dehydrogenase (LDH) level was at 337 IU/L, low prothrombin time (PT) at 56 % and fibrinogen level at 1 g/L. The direct Coombs test was positive. Examination of the myelogram revealed the presence of leishmania bodies and figures of hemophagocytosis. A diagnosis of visceral leishmaniasis associated with MAS was made.The patient was put on liposomal amphotericin B and corticosteroid therapy with good clinical and biological evolution and good therapeutic tolerance.
Conclusion:
The association of VL and MAS remains rare and should be evoked even in non-endemic areas since late diagnosis worsens the prognosis and may even be responsible for the death of patients despite an aggressive treatment.
Multiple isolated small bowel perforations following blunt abdominal trauma
Authors: João Louro, Miguel Albano, Teresa Caroço, Luís Reis, Carlos C Almeida
Journal: Int J Surg Case Rep (2018)
Keywords: abdominal trauma, case report, small bowel injury, surgery

Introduction:
Small bowel injury is uncommon after blunt abdominal trauma. Repeated clinical assessment is important, especially when investigative imaging is negative.
Case presentation:
39-year-old male presented to the emergency department following a blunt abdominal trauma. No initial hemodynamic abnormalities were found. Abdominal CT scan was negative for small bowel perforation. Repeated clinical assessment revealed increasing abdominal pain with tachycardia, and an emergent laparotomy was undertaken. Four grade II and one grade I small bowel perforations were found, all repaired with interrupted sutures. Patient was discharged home on day 7.
Discussion/conclusion:
The diagnosis of small bowel injury is difficult and a low threshold of suspicion is crucial to reduce morbidity and mortality. Hemodynamic instability or abdominal tenderness after blunt abdominal trauma are indications for immediate surgical exploration, despite negative imaging findings. Serial clinical assessment is the main decision tool to perform an abdominal exploration.
Delayed methimazole-induced agranulocytosis in a 6-year old patient with Graves' disease
Authors: Vidya Puthenpura, Kinjal Desai, Andrew Bauer, Ian Marshall
Journal: Int J Pediatr Endocrinol (2016)
Keywords: absolute neutrophil count, agranulocytosis, graves’ disease, methimazole
MeSH terms: Case Reports

Background:
Agranulocytosis is regarded as a rare side effect of methimazole (MMI) therapy that occurs in a dose dependent manner and that usually develops within the first 3-6 months of treatment. Although delayed development beyond this timeline has been documented in adults, very few children have been reported with this presentation.
Case presentation:
We present a 6-year old patient who developed agranulocytosis 18 months after the start of MMI therapy.
Conclusions:
This is an unusual case of a 6-year old patient who developed this serious side effect on stable MMI therapy well beyond the typical timeline. Our review of the literature revealed that there really is inconclusive data on the incidence, time, and dose-dependency of MMI-induced agranulocytosis in the pediatric Graves' disease population.
Intraperitoneal Granulomas Unexpectedly Found during a Cesarean Delivery: A Late Complication of Dropped Gallstones
Authors: David A Suarez-Zamora, Luis E Barrera-Herrera, Ricardo Caceres-Mileo, Mauricio A Palau-Lazaro
Journal: Case Rep Pathol (2017)
MeSH terms: Case Reports

Laparoscopic cholecystectomy is the treatment of choice for patients with symptomatic cholelithiasis. Spillage of gallstones into the abdominal cavity during laparoscopic cholecystectomy occurs in approximately one-third of cases. Although retained gallstones remain asymptomatic, few cases may develop complications. We report the case of a 29-year-old nulliparous woman presenting with several hard nodules in the omentum, raising the possibility of a metastatic disease. Histological examination demonstrated a bile-stained material and a foreign body-type granulomatous response without neoplastic tissue. Our case demonstrates an example of a complication resulting two years after a laparoscopic cholecystectomy that was unexpectedly found during a cesarean delivery. Pathologists should be aware of this entity to avoid interpretation errors.
Disseminated cryptococcosis initially presenting as cellulitis in a patient suffering from nephrotic syndrome
Authors: Wentao Ni, Qi Huang, Junchang Cui
Journal: BMC Nephrol (2013)
MeSH terms: Cellulitis / drug therapy, Cellulitis / etiology, Cryptococcosis / complications, Cryptococcosis / drug therapy, Fluconazole / therapeutic use, Nephrotic Syndrome / complications, Nephrotic Syndrome / drug therapy, Case Reports, Adult, Antifungal Agents / therapeutic use, Cellulitis / diagnosis, Cryptococcosis / diagnosis, Diagnosis, Differential, Fatal Outcome, Humans, Male, Nephrotic Syndrome / diagnosis, Treatment Failure, Antifungal Agents, Fluconazole

Background:
Cryptococcosis is considered as an opportunistic infection because it mainly occurs in immunosuppressed hosts. C. neoformans is usually acquired by the respiratory route and then may disseminate hematogenously to other places, such as meninges, bone and skin. Cutaneous involvement is a rare but important feature of disseminated cryptococcosis with a poor outcome if misdiagnosis. We reported the first case of patients with nephrotic syndrome suffering from disseminated cryptococcosis initially presented as cellulitis.
Case presentation:
A 34-year-old man developed severe cellulitis on his both lower extremities without any preceding injury and allergies. The patient had been treated with systemic corticosteroids nearly one year for nephrotic syndrome. According to the outcome of blood culture, the wound area was interpreted as bacterial cellulitis at first. However, the antimicrobial treatment made no response and the skin biopsy revealed the presence of Cryptococcus neoformans, which was subsequently confirmed by microbiological culture. Though the initiation of therapy with fluconazole 400 mg per day was immediately adopted, the patient's conditions suddenly plummeted and he died in the end.
Conclusion:
Since the poor outcome of disseminated cryptococcosis if unrecognized and untreated in time, it should be investigated rigorously as a differential diagnosis in patients with nephrotic syndrome suffering from cutaneous diseases.
Mucormycosis with extensive cranial nerve involvement as the first presentation of diabetes mellitus: A case report
Authors: Mouna Al Saad, Ahmad Rimawi, Ahmad Saadeh, Amin Shehadeh
Journal: Qatar Med J (2021)
Keywords: mucormycosis, cavernous sinus thrombosis, cranial nerve palsies, diabetes
MeSH terms: Case Reports

Mucormycosis, a rare fungal infection, mainly affects individuals with diabetes mellitus and those who were immunocompromised and has a high mortality rate. Its most common presentation is similar to that of acute bacterial sinusitis with symptoms of nasal congestion, headache, and fever. The involvement of multiple cranial nerves in mucormycosis was rarely reported in the literature and indicates severe disease. Herein, we report the case of a 56-year-old man who was referred to the ophthalmology outpatient clinic for facial nerve palsy. He was treated with systemic steroids for 10 days with no improvement. On examination, he had a loss of vision and a frozen orbit due to involvement of cranial nerves II, III, IV, V, VI, and VII. An extensive workup revealed a hemoglobin A1C of 10%. However, he was never diagnosed with diabetes mellitus previously and denied any of the classical symptoms of diabetes mellitus. He underwent ethmoidectomy, maxillectomy, and drainage of an intraorbital abscess after appropriate imaging studies. Histopathology confirmed the diagnosis of mucormycosis, and the patient was started on systemic amphotericin B. This case emphasizes the importance of screening for diabetes mellitus. Early recognition of underlying diabetes mellitus in this patient may have prevented the development of mucormycosis along with its devastating complications.
Progressive Scoliosis in a Child with Cystic Fibrosis
Authors: Lauren M Castner, Samya Z Nasr, Manuel Arteta
Journal: Case Rep Pediatr (2019)
MeSH terms: Case Reports

We discuss an adolescent female with cystic fibrosis, asthma, and scoliosis who had a rapid decline in her pulmonary function despite typical treatment for a cystic fibrosis exacerbation. Ultimately, she had a fixed airway obstruction likely due to her progressive scoliosis, which improved following surgical intervention.
The cultural sustainability in English as foreign language textbooks: Investigating the cultural representations in English language textbooks in China for senior middle school students
Authors: Jun Lu, Yanhong Liu, Lin An, Ying Zhang
Journal: Front Psychol (2022)
Keywords: efl textbooks, cultural representation, cultural sustainability, sustainability education, world englishes

In the age of globalization, studies of cultural representations in foreign language textbooks take account of cultural sustainability. This article reports on a case study of cultural representations in two English language textbook series that are widely used in senior high schools in China. The study investigated whether the cultural representations in these textbooks contribute to the development of local cultural sustainability. Content analysis was employed to examine the texts used in these textbooks, with references to the synergy of the theoretical frameworks of cultural sustainability and world Englishes. The study results indicate that there is an imbalanced cultural representation with respect to the categories of international cultures and national culture in these textbooks. The results point to the cultures of the inner circle countries (BANA: Britain, Australasia, and North America) being predominant, while the representation of Chinese culture has a low profile. As these textbooks are an important learning and teaching resource in China, they have the potential to play a significant role in influencing learners' worldviews as they develop their understanding of different cultures. The imbalanced presentation of culture may in turn lead to a biased worldview where learners, rather appreciating cultural diversity, may instead discriminate against certain cultures. The implications for redressing the imbalance in cultural representation and cultural sustainability are discussed.
Acute Myelomonocytic Leukemia Presenting as Perianal Pain
Authors: Syma Iqbal, James Walcott, Stephen Chan
Journal: Case Rep Surg (2018)
MeSH terms: Case Reports

Extramedullary involvement of the gastrointestinal tract (GIT) is a rare entity as most patients present with lymphoreticular organ involvement. Its detection and diagnosis can be extremely challenging, as these patients would present with unusual clinical symptoms. We diagnosed and managed a patient with leukemic infiltration of GIT who presented with perianal pain. Prompt use of MRI played an important role in detecting underlying pathology, and effective tissue sampling confirmed the diagnosis. This resulted in overall successful management of the patient.
Intracranial hemorrhages and late hemorrhagic disease associated cholestatic liver disease
Authors: Hüseyin Per, Duran Arslan, Hakan Gümüş, Abdulhakim Coskun, Sefer Kumandaş
Journal: Neurol Sci (2013)
MeSH terms: Cholestasis, Intrahepatic / complications, Vitamin K Deficiency Bleeding / etiology, Case Reports, Brain / diagnostic imaging, Brain / pathology, Cholestasis, Intrahepatic / pathology, Fatal Outcome, Female, Giant Cells, Hepatitis / complications, Hepatitis / pathology, Humans, Infant, Infant, Newborn, Intracranial Hemorrhages / etiology, Intracranial Hemorrhages / pathology, Intracranial Hemorrhages / surgery, Magnetic Resonance Imaging, Male, Neurosurgical Procedures, Plasma, Tomography, X-Ray Computed, Vitamin K / therapeutic use, Vitamin K Deficiency Bleeding / physiopathology, Vitamins / therapeutic use, Vitamins, Vitamin K

Deficiency of vitamin K predisposes to early, classic or late hemorrhagic disease of the newborn (HDN); of which late HDN may be associated with serious and life-threatening intracranial hemorrhage. Late HDN is characterized intracranial bleeding in infants aged 1 week to 6 months due to severe vitamin K deficiency. Late HDN is still an important cause of mortality and morbidity in developing countries where vitamin K prophylaxis is not routinely practiced. Children with cholestatic liver disease are at risk for developing secondary vitamin K deficiency because of fat malabsorbtion and inadequate dietary intake. In this study, we described 11 infants with cholestatic liver disease with different etiologies exhibiting intracranial hemorrhage (ICH). Six patients underwent surgical evacuation of ICH, following the administration of vitamin K and/or fresh frozen plasma. The possibility of cholestatic liver disease should be considered in the treatment of ICH due to vitamin K deficiency.
An Unusual Case of a Perforated Meckel's Diverticulum
Authors: Lybil Mendoza Alvarez, Dhanashree Rajderkar, Genie L Beasley
Journal: Case Rep Pediatr (2023)
MeSH terms: Case Reports

Background:
Meckel's diverticulum, the most common congenital anomaly of the gastrointestinal tract, typically presents in children with gastrointestinal bleeding. Case Presentation. An 11-year-old Caucasian male presented with a 6 week history of abdominal pain, vomiting, and diarrhea. He was found to have iron deficiency anemia, markedly elevated serum and fecal inflammatory markers, and imaging showing a contained bowel perforation. He was evaluated for infectious etiologies and later underwent extensive testing for inflammatory bowel disease. Ultimately, he was found to have a Meckel's diverticulum, which was successfully resected and led to resolution of his gastrointestinal complaints.
Conclusions:
This case report highlights one of the more rare presentations in children, which is intestinal perforation. Symptoms of a Meckel's diverticulum can overlap with those of inflammatory bowel disease, as demonstrated by our patient. Clinicians should be familiar with criteria to establish diagnosis of inflammatory bowel disease, and if diagnosis isn't fully supported by testing, they should expand the differential and consider Meckel's diverticulum.