OpenMed/multicare-articles huggingface dataset:
Novel exonic mutation inducing aberrant splicing in the IL10RA gene and resulting in infantile-onset inflammatory bowel disease: a case report
Authors: Tadahiro Yanagi, Tatsuki Mizuochi, Yugo Takaki, Keisuke Eda, Keiichi Mitsuyama, Masataka Ishimura, Hidetoshi Takada, Dror S Shouval, Alexandra E Griffith, Scott B Snapper, Yushiro Yamashita, Ken Yamamoto
Journal: BMC Gastroenterol (2016)
MeSH terms: Exons, Inflammatory Bowel Diseases / genetics, Interleukin-10 / genetics, Mutation, RNA Splicing, Case Reports, Hematopoietic Stem Cell Transplantation, Humans, Infant, Inflammatory Bowel Diseases / surgery, Male, Polymorphism, Single Nucleotide, Remission Induction / methods, IL10 protein, human, Interleukin-10

Background:
Although deleterious mutations in interleukin-10 and its receptor molecules cause severe infantile-onset inflammatory bowel disease, there are no reports of mutations affecting this signaling pathway in Japanese patients. Here we report a novel exonic mutation in the IL10RA gene that caused unique splicing aberrations in a Japanese patient with infantile-onset of inflammatory bowel disease in association with immune thrombocytopenic purpura and a transient clinical syndrome mimicking juvenile myelomonocytic leukemia.
Case presentation:
A Japanese boy, who was the first child of non-consanguineous healthy parents, developed bloody diarrhea, perianal fistula, and folliculitis in early infancy and was diagnosed with inflammatory bowel disease. He also developed immune thrombocytopenic purpura and transient features mimicking juvenile myelomonocytic leukemia. The patient failed to respond to various treatments, including elemental diet, salazosulfapyridine, metronidazole, corticosteroid, infliximab, and adalimumab. We identified a novel mutation (c.537G > A, p.T179T) in exon 4 of the IL10RA gene causing unique splicing aberrations and resulting in lack of signaling through the interleukin-10 receptor. At 21 months of age, the patient underwent allogeneic hematopoietic stem cell transplantation and achieved clinical remission.
Conclusions:
We describe a novel exonic mutation in the IL10RA gene resulting in infantile-onset inflammatory bowel disease. This mutation might also be involved in his early-onset hematologic disorders. Physicians should be familiar with the clinical phenotype of IL-10 signaling defects in order to enable prompt diagnosis at an early age and referral for allogeneic hematopoietic stem cell transplantation.
Peters anomaly with post axial polydactyly, bilateral camptodactyly and club foot in a Kenyan neonate: a case report
Authors: Aruyaru Stanley Mwenda
Journal: J Med Case Rep (2012)

Introduction:
A case of bilateral Peters anomaly with bilateral post axial polydactyly, bilateral camptodactyly, and club foot was examined in a neonatal Kenyan baby girl of African descent who had been delivered in the hospital and admitted to the newborn unit. She died aged five days. There are no cases of Peters anomaly recorded in Africa according to a literature search. In addition, available data point to the majority of the principal associations in Peters anomaly to be genitourinary anomalies, making this case a rare one in its isolated collection of musculoskeletal associations.
Case presentation:
A Kenyan baby girl of African descent who was born through a caesarean section presented in the new born unit of our hospital with bilateral corneal opacities, bilateral polydactyly, camptodactyly and club foot.
Conclusion:
This is a rare case of Peters anomaly and its association with multiple musculoskeletal abnormalities makes it special.
Early-Onset Neonatal Meningitis Caused by an Unusual Pathogen- Moraxella catarrhalis
Authors: Shraddha Siwakoti, Sohani Bajracharya, Neetu Adhikaree, Rinku Sah, Rupa Singh Rajbhandari, Basudha Khanal
Journal: Case Rep Pediatr (2019)
MeSH terms: Case Reports

Introduction:

Moraxella catarrhalis are part of the normal flora of the human respiratory tract and are known to have low pathogenic potential. The organism is rarely reported in the literature as the causative agent of meningitis. We report the first case of early-onset neonatal meningitis associated with M. catarrhalis from Nepal.
Case report:
A 3-day-old baby with fever and yellowish discolouration of the body since 48 hrs was admitted to the neonatal ward. The baby developed 3 episodes of seizures in the form of uprolling of eyes on the first day of admission during phototherapy course for raised serum bilirubin. Sepsis screen was positive, and meningitis was confirmed as the cerebrospinal fluid culture grew M. catarrhalis. Cranial ultrasound scan was normal. The baby received a 21-day course of intravenous cefotaxime and amikacin. Recovery has been uneventful to date.
Conclusion:
Neonatal meningitis is a life-threatening infection. This case report presents an uncommon aetiology of neonatal meningitis which can be misidentified in the diagnostic bacteriology laboratory in resource constraints area like ours.
Spontaneous Rupture of Pyometra Causing Peritonitis in Elderly Female Diagnosed on Dynamic Transvaginal Ultrasound
Authors: Sharad M Malvadkar, Madhuri S Malvadkar, Shilpa V Domkundwar, Shariq Mohd
Journal: Case Rep Radiol (2016)

Pyometra is collection of pus within the uterine cavity and is usually associated with underlying gynaecological malignancy or other benign causes. Spontaneous rupture of pyometra is a rare complication. We report a case of a 65-year-old female who presented with acute abdomen and was diagnosed with a ruptured uterus secondary to pyometra and consequent peritonitis on dynamic transvaginal sonography (TVS) which was later confirmed on contrast enhanced computed tomography (CECT). An emergency laparotomy was performed and about 800 cc of pus was drained from the peritoneal cavity. A rent was found in the anterior uterine wall and hence hysterectomy was performed. Histopathology revealed mixed inflammatory cell infiltrate with no evidence of malignancy. There are only 31 cases of ruptured pyometra reported till date, most of which were definitively diagnosed only on laparotomy. In only two of these cases the preoperative diagnosis was made on CECT. We report this case, as the correct and definitive diagnosis was made preoperatively on dynamic TVS. To our knowledge, this is the first case report revealing spontaneous ruptured pyometra being diagnosed preoperatively on dynamic TVS. This report is aimed at giving emphasis on the use of simple dynamic TVS for accurate diagnosis of rare spontaneous ruptured pyometra causing peritonitis.
An Extraordinary Case of Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) Syndrome Misdiagnosed as Juvenile Idiopathic Arthritis on Admission
Authors: Gulcin Aytac, Burcu Guven, Ilyas Aydin, Ezgi Topyildiz, Ayca Aykut, Asude Durmaz, Neslihan Edeer Karaca, Guzide Aksu, Necil Kutukculer
Journal: Case Reports Immunol (2023)
MeSH terms: Case Reports

Background:
APECED is a syndrome characterized by autoimmune polyendocrinopathy, candidiasis, and ectodermal dystrophy. The most observed clinical findings are chronic mucocutaneous candidiasis, hypoparathyroidism, and autoimmune adrenal insufficiency. Case Presentation. A three-year-old male patient was admitted with classical signs of juvenile idiopathic arthritis and treated with nonsteroidal anti-inflammatory drugs. During follow-up, signs of autoimmunity, candidiasis, nail dystrophy, and onychomycosis were observed. The parents were consanguineous, and targeted next-generation sequencing was performed. A homozygous mutation in the AIRE gene SAND domain (c.769C > T, p.Arg257Ter) was detected, and the patient was diagnosed with APECED syndrome.
Conclusion:
Inflammatory arthritis is rarely described in association with APECED and is often misdiagnosed as juvenile idiopathic arthritis. In APECED cases, nonclassical symptoms such as arthritis may occur before developing classical symptoms and considering the diagnosis of APECED in patients with CMC and arthritis is useful for early diagnosis before development of complications and management of disease.
To research (or not) that is the question: ethical issues in research when medical care is disrupted by political action: a case study from Eldoret, Kenya
Authors: Darlene R House, Irene Marete, Eric M Meslin
Journal: J Med Ethics (2016)
Keywords: ethics, international affairs, research ethics
MeSH terms: Clinical Trials as Topic / ethics, Conflict of Interest, Conflict, Psychological, Moral Obligations, Politics, Research Personnel / ethics, Research Subjects, Biomedical Research / ethics, Developing Countries, Ethical Analysis, Ethics Committees, Research, Ethics, Research, Humans, Informed Consent, Kenya, Strikes, Employee, Violence

While considerable attention has been focused on understanding the myriad of ethical analysis in international research in low and middle income countries, new issues always arise that have not been anticipated in guidelines or studied extensively. The disruption of medical care arising as a direct result of political actions, including strikes, postelection violence and related activities, is one such issue that leaves physician-researchers struggling to manage often conflicting professional responsibilities. This paper discusses the ethical conflicts that arise for physician-researchers, particularly when disruption threatens the completion of a study or completion is possible but at the expense of not addressing unmet medical needs of patients. We review three pragmatic strategies and the ethical issues arising from each: not starting research, stopping research that has already started, and continuing research already initiated. We argue that during episodes of medical care disruption, research that has been started can be continued only if the ethical standards imposed at the beginning of the study can continue to be met; however, studies that have been approved but not yet started should not begin until the disruption has ended and ethical standards can again be assured.
Dedifferentiated liposarcoma of the spermatic cord: Case report and review of literature
Authors: Youssef Shaban, Adel Elkbuli, David Kim, Alia Abdulla, Dessy Boneva, Mark McKenney, Jason Wolf
Journal: Int J Surg Case Rep (2020)
Keywords: liposarcoma, patients centered outcomes, radical orchiectomy, surgical oncology
MeSH terms: Case Reports

Introduction:
Malignant spermatic cord tumors have an annual incidence of 0.3 cases/million. The vast majority of tumors in this region are benign. We present a rare case of a dedifferentiated liposarcoma of the spermatic cord successfully treated.
Presentation of case:
A 59-year-old gentleman presented complaining of an enlarging painful right groin mass. On exam there was an obvious 10 cm inguinal mass. Imaging illustrated a right inguinal soft tissue mass that was not present on imaging 22 months prior. The patient underwent a right inguinal exploration, en bloc resection of the mass, and radical orchiectomy to ensure negative margins. Histopathological analysis revealed a grade 2 dedifferentiated liposarcoma that measured 9 × 6 × 5 cm, with 5 cm negative margins. The patient did well and was discharged on postoperative day one. On 6-month follow-up there was no evidence of recurrence.
Discussion:
We present a rare dedifferentiated liposarcoma of the spermatic cord that was successfully treated with surgical resection. This case highlights the importance of maintaining a high index of suspicion coupled with a thorough history and physical examination when encountering an enlarging inguinal mass. This rare pathology is lacking level one evidence-based standardized treatment algorithms. The mainstay of treatment is surgical resection.
Conclusion:
For spermatic cord liposarcomas, the surgical approach is en bloc resection with radical orchiectomy aiming for R0 margins. Prognosis depends on tumor grade, anatomic site, and the ability to achieve a microscopically tumor negative resection. Despite our patient's disease free status, prolonged surveillance with physical examination and cross sectional imaging is still warranted.
Dirofilaria repens in a Pediatric Patient-First Case Report from Switzerland
Authors: Rebekka Rose, Kai-Uwe Kleitsch, Diana Born, Pascal Heye
Journal: European J Pediatr Surg Rep (2023)
Keywords: d repens, dirofilaria, scrotum, spermatic cord, testis
MeSH terms: Case Reports

We report the first case of Dirofilaria repens in a 4-year-old male patient in Switzerland. The disease is a vector-borne parasitic infection that is not endemic to Switzerland. A 4-year-old male presented with a tender mass in the left groin. The patient was taken to the operating room for surgical exploration to rule out a pathology that could be harmful to the spermatic cord. A node was found along the spermatic cord and excised. Histopathology and microbiology studies revealed the diagnosis of Dirofilaria repens . Even though Switzerland is not endemic to Dirofilaria repens , the diagnosis of a parasitic infection should be considered in patients presenting with subcutaneous nodules in correlation with a travel history to endemic areas. The treatment consists of complete excision of the affected tissue.
Solitary Extramedullary Plasmacytoma of the Cricoid Cartilage-Case Report
Authors: Simone Krebs, Ian Ganly, Ronald Ghossein, Joanna Yang, Joachim Yahalom, Heiko Schöder
Journal: Front Oncol (2017)
Keywords: 18f-fdg-pet/ct, cricoid, larynx, plasmacytoma, radiotherapy
MeSH terms: Case Reports

Solitary plasmacytoma (SP) is an extremely rare form of hematologic malignancy that can be classified as solitary bone plasmacytoma or solitary extramedullary plasmacytoma. Here, we report a patient who presented with progressive shortness of breath and foreign body sensation in his throat. Fluorodeoxyglucose positron emission tomography/computed tomography (18F-FDG-PET/CT) demonstrated an abnormal FDG-avid soft tissue mass arising from the larynx involving the cricoid cartilage without additional suspicious lesions. Histology revealed an abundance of plasma cells; immunohistochemistry was positive for CD138 expression and lambda chains, and negative for CD20. Comprehensive imaging studies and panendoscopy of the ENT tract confirmed solitary disease involvement. Following additional systemic work-up, a diagnosis of extramedullary plasmacytoma was rendered. The patient underwent definitive radiotherapy using intensity-modulated radiation therapy (total dose of 46 Gy, divided in 23 fractions of 200 cGy). Serial PET/CT showed the stepwise resolution of abnormal FDG uptake and resolution of the cricoid cartilage lesion. With 22 months of follow-up, the patient remains free of disease. We describe the rare case of SP presenting as a FDG-avid hypermetabolic soft tissue mass in the cricoid cartilage, which should be considered in the differential diagnosis of laryngeal tumors. Of note, SP is radiosensitive; favorable outcome can be expected once treated with doses of 40-50 Gy. FDG PET/CT is helpful in diagnosis and response assessment for this disease.
PINPOINT® can be used for photodynamic diagnosis based on 5-aminolevulinic acid-induced protoporphyrinIX in gastric cancer surgery: Report of a case
Authors: Teppei Kamada, Masashi Yoshida, Hironori Ohdaira, Sojun Hoshimoto, Satoshi Narihiro, Norihiko Suzuki, Rui Marukuchi, Hideyuki Takeuchi, Yutaka Suzuki
Journal: Int J Surg Case Rep (2020)
Keywords: 5-ala-pdd, aladuck ls-dled, pinpoint, pteg, pyloric stenosis
MeSH terms: Case Reports

Introduction:
Photodynamic diagnosis (PDD) using 5-aminolevulinic acid (5-ALA) has been used as a diagnostic procedure for malignant diseases. Dedicated laparoscopes (e.g., an IMAGE1 Camera System®) are used for this procedure. We report a case treated with laparoscopic total gastrectomy with 5-ALA-PDD using the PINPOINT® system.
Presentation of case:
A patient in his 80 s with diffuse-type gastric cancer with pyloric stenosis and ascites was admitted to our hospital. Double percutaneous transesophageal gastrotubing (dPTEG) for both gastric decompression and enteral nutrition and two cycles of preoperative chemotherapy with S-1 plus oxaliplatin were performed preoperatively. Additionally, we preoperatively performed an ex vivo experiment that confirmed that the PINPOINT® system can be used to observed protoporphyrin IX (PpIX) fluorescence. Three hours before surgery, 5-ALA hydrochloride was administered through dPTEG. Observation was performed by PINPOINT®, and Aladuck® was used as an excitation light source. Peritoneal nodules and sampled lymph nodes with red fluorescence were observed by 5-ALA-PDD. Accordingly, we gave up a radical operation and laparoscopic total gastrectomy without systematic lymphadenectomy to improve anemia and release pyloric stenosis was performed. The patient's postoperative course was uneventful.
Discussion:
It is possible that the connection with each of the scopes and an exclusive light source (Aladuck®) enable the easy use of 5-ALA-PDD without dedicated laparoscopy. It is expected that 5-ALA-PDD would show the further spread of gastrointestinal cancer if it could be performed with many types of laparoscopes.
Conclusion:
We found that 5-ALA-PDD-guided surgery can be easily performed in a short time using the PINPOINT® system.
A Rare Case of Localised Isolated Penile Fournier's Gangrene and a Short Review of the Literature
Authors: Antonios Katsimantas, Nikolaos Ferakis, Panagiotis Skandalakis, Dimitrios Filippou
Journal: Case Rep Urol (2018)
MeSH terms: Case Reports

Penile Fournier's gangrene (FG) is very rare clinical entity, which is also known as penile necrotizing fasciitis or wet gangrene of the penis. It is associated with increased morbidity and mortality and in the majority of the described cases it affects not only penis but also the adjacent organs and tissues (e.g., bladder, muscles, rectum, testis, and scrotum). We report a rare case of a previously healthy 68-year-old male, who presented with acute isolated penile Fournier's gangrene. Pus culture was identified with pathogens Enterococcus faecalis, Streptococcus gordonii, and Prevotella melaninogenica. Prompt surgical exploration, fluid resuscitation, antibiotic treatment, and diligent postoperative care are the cornerstone in the successful treatment of this emergency with high mortality.
Total pelvic exenterative surgery in patients with peritoneal metastases from appendiceal neoplasms. A case series of 2 patients
Authors: Paul H Sugarbaker
Journal: Int J Surg Case Rep (2019)
Keywords: cytoreductive surgery, early postoperative intraperitoneal chemotherapy (epic), high grade appendiceal mucinous neoplasms, hyperthermic intraperitoneal chemotherapy (hipec), low grade appendiceal mucinous neoplasms, pseudomyxoma peritonei, reoperative surgery

Background:
Surgery which includes peritonectomy, visceral resections, and perioperative chemotherapy has been used extensively to treat peritoneal metastases from appendiceal mucinous adenocarcinoma. The results of treatment vary with the grade of the neoplasm, the extent of abdominal and pelvic disease and the completeness of tumor removal.
Methods:
The clinical features, surgical procedures and outcome of two patients with mucinous appendiceal neoplasms were reviewed. The decision to move to total pelvic exenterative surgery after prior treatment failure was critically evaluated.
Results:
Patient 1 had three extensive surgical procedures prior to total pelvic exenteration and one surgical procedure after. Patient 2 had one 16-h surgical procedure prior to total pelvic exenteration. Patient 1 had 8 years and 1 month survival from onset of disease until death. Patient 2 is free of disease at 27 years from onset of pseudomyxoma peritonei. After recovery of the patients from the extensive surgery, their quality of life was acceptable.
Conclusion:
Total pelvic exenteration surgery is seldom used in patients with peritoneal metastases from appendiceal neoplasms. These two patients were studied in an attempt to determine the indications for this procedure with this disease.
Cancer Stem-Like Cells in a Case of an Inflammatory Myofibroblastic Tumor of the Lung
Authors: Valentina Masciale, Giulia Grisendi, Federico Banchelli, Roberto D'Amico, Antonino Maiorana, Pamela Sighinolfi, Lucio Brugioni, Alessandro Stefani, Uliano Morandi, Massimo Dominici, Beatrice Aramini
Journal: Front Oncol (2020)
Keywords: cancer stem cells, cancer stem-like cells, inflammatory myofibroblastic tumor of the lung, mitosis, target therapy
MeSH terms: Case Reports

Background: Inflammatory myofibroblast tumor (IMT) is a rare tumor with obscure etiopathogenesis in which different inflammatory cells and myofibroblastic spindle cells are seen histologically. Although the majority of these neoplasms have a benign clinical course, the malignant form has also been reported. The gold standard is surgical treatment for complete removal. Our report describes a 50-year-old woman who underwent surgery for IMT of the lung. The aim is to determine whether cancer stem cells may be present in IMT of the lung. Methods: In April 2018, the patient underwent surgery for tumor mass asportation through lateral thoracotomy. The histology of the tumor was consistent with IMT of the lung. The ALDEFLUOR assay, after tissue digestion, was used to identify and sort human lung cancer cells expressing high and low aldehyde dehydrogenase (ALDH) activity. SOX2, NANOG, OCT-4, and c-MYC positivity were additionally determined by immunohistochemistry. Results: The specimen contained 1.10% ALDHhigh cells among all viable lung cancer cells, which indicates the population of cancer stem cells is not negligible. Immunohistochemically assessed cell positivity for ALDH1A1, SOX2, NANOG, OCT-4, and c-MYC, which are considered as lung cancer stem-like cells markers. Conclusion: For the first time, we demonstrated the presence of cancer stem cells in a case of IMT of the lung. This finding may provide a base for considering new pathological and molecular aspects of this tumor. This perspective suggests further studies to understand the possibility of developing recurrence depending on the presence of cancer stem cells.
Nontypable Haemophilus influenzae Septicemia and Urinary Tract Infection Associated with Renal Stone Disease
Authors: Marianne Stærk, Sara A Tolouee, Jens J Christensen
Journal: Open Microbiol J (2018)
Keywords: antibiotic resistance, hemophilus influenzae infection, invasive disease, non-typable, renal stones, urinary tract infection
MeSH terms: Case Reports

Introduction:

Haemophilus influenzae commonly causes upper respiratory tract infections and has only rarely been reported etiology of urinary tract infections. Since the introduction of the Haemophilus influenzae b (Hib) vaccine, non-typable haemophilus species now cause the majority of invasive disease in Europe.
Case report:
We report a case of an adult man with non-typable Haemophilus influenzae septicemia, urinary tract infection and bilateral renal stone disease. The patient presented with right sided flank pain and a CT scan showed bilateral renal stones and a right sided ureteral stone causing obstruction.
Results and discussion:

Haemophilus influenzae was identified in blood and urine and despite a tendency of increasing antibiotic resistance among Haemophilus influenzae, our strain was susceptible to all antibiotics tested. Treatment consisted of 3 days of intravenous cefuroxime, insertion of a right sided JJ ureteric stent and 5 days of peroral ciprofloxacin after discharge. Physicians and microbiologists should be aware of Haemophilus influenzae as a possible urinary tract pathogen, especially when urinary tract abnormalities are present, and take the risk of antibiotic resistance into consideration at initial treatment.