OpenMed/multicare-articles huggingface dataset:
Case report: Difference in outcomes between two cases of Hailey-Hailey disease treated with apremilast
Authors: Misako Yamaga, Toshinari Miyauchi, Jin Teng Peh, Sota Itamoto, Yosuke Mai, Hiroaki Iwata, Toshifumi Nomura, Hideyuki Ujiie
Journal: Front Genet (2022)
Keywords: atp2c1, hailey-hailey disease, apremilast, familial benign chronic pemphigus, phosphodiesterase-4 inhibitor
MeSH terms: Case Reports

Hailey-Hailey disease (HHD) is a rare autosomal dominant acantholytic dermatosis clinically characterized by recurrent erythematous plaques and erosions mainly on the intertriginous regions. Although HHD seriously affects quality of life, conventional treatments often fail to provide long-term relief for most patients. The effectiveness of apremilast, a phosphodiesterase-4 inhibitor, against severe HHD was first reported in 2018, and after further testing, this agent is currently expected to be established as an efficacious and safe therapeutic option. Here we report two cases of HHD treated with apremilast which showed opposite outcomes. Although the case with extremely severe symptoms showed remarkable and long-lasting improvement with apremilast used after acute treatment with oral corticosteroid, the other case, with milder symptoms treated only with apremilast, showed no improvement. Our transcriptome analysis using skin samples collected prior to apremilast administration revealed the involvement of the NF-κB signaling pathway, which is related to the responses to bacteria and other organisms. However, this pathway was more strongly activated in case 2 than in case 1, suggesting that the steroid treatment preceding apremilast may have been effective and supportive in the apremilast-responding case. One of the two cases highlights the potential of apremilast as a treatment option for HHD, but the other underlines the difficulties in managing HHD and the complexity of the disease background. The accumulation of cases and larger clinical studies are expected to precisely evaluate the safety and efficacy of apremilast, and the potential for therapies in combination with conventional treatments.
Iron chelation therapy with deferasirox results in improvement of liver enzyme level in patients with iron overload-associated liver dysfunction
Authors: Yasuo Miura, Yusuke Matsui, Hitomi Kaneko, Mitsumasa Watanabe, Mitsuru Tsudo
Journal: Case Rep Med (2010)
MeSH terms: Case Reports

Iron chelation therapy (ICT) has been applied for the patients with iron overload-associated liver dysfunction since it is one of the causes of death in patients with intractable hematological diseases requiring multiple red blood cell transfusions. Recently, deferasirox (DSX), a novel, once-daily oral iron chelator, was demonstrated to have similar efficacy to the conventional continuous infusion of deferoxamine on a decrease in serum ferritin (SF) level in heavily transfused patients. We show three cases of transfusion-mediated iron-overloaded patients with an elevated serum alanine aminotransaminase (ALT). All three patients who received the ICT with DSX showed a decrease in ALT level in association with a decrease in SF level. It is suggested that DSX therapy could be considered to expect the improvement of liver damage for iron-overloaded patients with an abnormal ALT level.
e-TEP Retromuscular Repair for Recurrent Incisional Hernias: Report of Three Cases
Authors: Vikal Chandra Shakya, Bikram Byanjankar, Rabin Pandit, Anang Pangeni, Anir Ram Moh Shrestha
Journal: Case Rep Surg (2019)
MeSH terms: Case Reports

Introduction:
Recurrent incisional hernias are difficult to treat. There are many factors involved in the recurrence, and due to extensive dissections, the planes are fused with adhesions, and we may need a new plane for dissection and placement of meshes.
Case report:
We report here three cases of recurrent incisional hernias which were dealt by a relatively new method to laparoscopy: the enhanced view totally extraperitoneal repair (e-TEP) retromuscular technique. There were three patients: one after an open onlay repair of lower midline incision, another after an onlay mesh repair of a subcostal incision for open cholecystectomy followed by an intraperitoneal onlay mesh hernioplasty (IPOM) repair, and another after IPOM repair of epigastric hernia. They were treated with the abovementioned technique with satisfying short-term results.
Conclusion:
The e-TEP technique is a relatively new method of providing minimal access surgery to these patients utilizing the previously unaccessed retromuscular (Rives and/or preperitoneal) space for the repair of these recurrent incisional hernias.
Prolonged Hypercupremia after Laparoscopic Vertical Sleeve Gastrectomy Successfully Treated with Oral Zinc
Authors: Timothy R Koch, Elizabeth A Zubowicz, John B Gross Jr
Journal: Case Rep Gastrointest Med (2019)
MeSH terms: Case Reports

A 30-year-old female underwent vertical sleeve gastrectomy. Postoperatively, hypercupremia and elevated ceruloplasmin were identified. Further testing revealed normal blood levels of transaminases, alkaline phosphatase, and albumin. She stopped ingestion of multivitamins, began a copper-free multivitamin, and then began a low copper diet, but with no improvement in hypercupremia. Protein electrophoresis was normal with no M-spike. Urinary copper excretion was normal at 0.24 micromol/24 hours (normal: < 0.55), and there were no Kayser-Fleischer rings on slit lamp examination. Two years postoperatively, she lost 44% of excess preoperative weight and she began zinc sulfate before meals twice daily (115 mg elemental Zinc/day). At 2 months and 8 months later, plasma copper and ceruloplasmin had essentially normalized. Increased production of ceruloplasmin could have been a response to significant weight loss or the presence of nonalcoholic steatohepatitis. The mechanism of zinc's beneficial effect is uncertain but may be related to suppressing hepatic synthesis of or secretion of ceruloplasmin.
Uterine leiomyoma in pediatric population: A case report and review of the literature
Authors: Cristina Martucci, Alessandro Crocoli, Giorgio Persano, Marco Bonito, Alessandra Stracuzzi, Rita Alaggio, Arianna Bertocchini, Antonella Accinni, Alessandro Inserra
Journal: Front Pediatr (2022)
Keywords: gynecology, leiomyoma, pediatrics, surgery, uterine cancer
MeSH terms: Case Reports

Uterine leiomyomas are rare in the pediatric population with less than 20 cases in adolescences reported in the literature. Furthermore, these masses represent a common presentation of gynecologic tumors with increasing age. We report a case of a 14-year-old female who presented with abdominal pain and increasing abdominal girth. Workup with ultrasound, CT and MRI demonstrated a large pelvic mass. Complete resection by median laparotomy was performed. The mass weighed 5,596 g and was 29.5 cm × 27 cm × 19 cm; the pathological examination confirmed the hypothesis of leiomyoma. The patient remained asymptomatic at 3 months follow up.
Successful treatment of early endometrial carcinoma by local delivery of levonorgestrel: a case report
Authors: D Wildemeersch, E Anderson, K Lambein, P Pauwels, M Dhont
Journal: Obstet Gynecol Int (2010)
MeSH terms: Case Reports

We describe a case of a 67-year-old Caucasian woman with an early, moderately-differentiated adenocarcinoma of the endometrium. A levonorgestrel-releasing intrauterine system was inserted, which she tolerated well. A full D&C, following removal of the device, was performed after 9 months, confirming absence of tumoral tissue. Examination after 24 months showed a very thin endometrium, indicating complete remission.
Bacteremia due to Leuconostoc pseudomesenteroides in a Patient with Acute Lymphoblastic Leukemia: Case Report and Review of the Literature
Authors: Kazuko Ino, Kazunori Nakase, Kei Suzuki, Akiko Nakamura, Atsushi Fujieda, Naoyuki Katayama
Journal: Case Rep Hematol (2016)

Leuconostoc species are vancomycin-resistant Gram-positive cocci. Infections due to Leuconostoc species have been reported in various immunocompromised patients, but little is known about such infection in patients with hematologic malignancies. We report a case of Leuconostoc infection in a 44-year-old woman with acute lymphoblastic leukemia. The patient developed a high fever despite antimicrobial therapy with doripenem after induction chemotherapy. After an isolate from blood cultures was identified as L. pseudomesenteroides, we changed the antibiotics to piperacillin-tazobactam and gentamicin, after which the patient recovered from the infection. Physicians should be aware of Leuconostoc species as causative pathogen if they encounter Gram-positive cocci bacteremia resistant to standard antibiotics such as vancomycin and teicoplanin, especially in patients with hematologic malignancies.
Acute Respiratory Failure as the First Manifestation of Antisynthetase Syndrome
Authors: Sonia Toujani, Amani Ben Mansour, Meriem Mjid, Abir Hedhli, Jouda Cherif, Yassine Ouahchy, Majed Beji
Journal: Tanaffos (2017)
Keywords: antisynthetase syndrome, interstitial lung disease, respiratory failure
MeSH terms: Case Reports

We report the case of a 40-year-old man with acute respiratory failure syndrome that later proved to be an initial manifestation of antisynthetase syndrome. The diagnosis of this rare combination of a connective tissue disease and an acute respiratory failure is difficult in a previously asymptomatic patient. Early diagnosis and immunosuppressive therapy started precociously prevented the disease progression and resulted in a good outcome.
Clinical Utility of Neutrophil CD64 to Detect Extrapulmonary Tuberculosis in Three Patients with Rheumatoid Arthritis Undergoing Treatment with Biologics
Authors: Shinichi Nogi, Yoshiyuki Arinuma, Akiko Komiya, Atsushi Hashimoto, Toshihiro Matsui, Shigeto Tohma
Journal: Case Rep Rheumatol (2018)
MeSH terms: Case Reports

Biologics play a key role in the treatment of rheumatoid arthritis (RA), while RA-related serious infection remains an unsettled clinical problem. Detection of tuberculosis (TB) is challenging due to the difficulty in distinguishing symptoms such as fever and elevation of inflammatory markers from other infections or a disease flare of RA. The expression of the CD64 molecule on neutrophils (neutrophil CD64) was upregulated by various infections including TB. However, it was not affected by disease activity of RA or by any therapy against RA. The present article reports three cases of extrapulmonary TB which occurred in patients with RA undergoing treatment with biologics. The marked increase in the levels of neutrophil CD64 may provide important insight into the diagnosis of TB.
Massive pulmonary thromboembolism combined with transient thyrotoxicosis in an 18 year old girl
Authors: Tong-Yoon Kim, Sang-Hyun Ihm, Ji Woong Roh, Sungmin Lim, Chan-Seok Park, Hee-Yeol Kim
Journal: Clin Hypertens (2020)
Keywords: deep vein thrombosis, pulmonary thromboembolism, thyrotoxicosis
MeSH terms: Case Reports

Background:
Pulmonary thromboembolism (PTE) is thought to usually stem from deep vein thrombosis (DVT). However, evidence of DVT could not be found in many cases. Furthermore, transient thyrotoxicosis is a rare but potentially life-threatening emergency involving a systemic hypercoagulable state. We report on an 18 year-old-girl with transient thyrotoxicosis with massive PTE without DVT.
Case presentation:
An 18-year-old girl was admitted to the hospital with syncope. Patient had no history of trauma, any known underlying disease or oral contraceptives use. Chest computed tomography (CT) showed massive PTE in both central pulmonary arteries and diffuse goiter. However, a low extremity Doppler sonogram did not detect DVT. To manage the PTE, we administered low molecular weight heparin. On the other hands, thyroid function test indicated a state of thyrotoxicosis. In addition, patient had a partial protein S deficiency but no other immunologic abnormality. Therefore, the patient was diagnosed with massive PTE, thyrotoxicosis, and partial protein S deficiency. Patient was discharged with oral warfarin and methimazole. A follow-up echocardiogram obtained 3 months after anticoagulation therapy demonstrated normal dimensions and systolic function. After thyrotoxicosis was treated with methimazole for a month, a euthyroid state was achieved and the goiter decreased to a normal size. The methimazole was gradually tapered off and stopped at 4 months. At a 6-month follow up visit, PTE and pulmonary hypertension had disappeared but the patient still had a partial protein S deficiency. We decided to stop all medication with careful monitoring. During a 4-year follow-up period after the episode, she was asymptomatic without any evidence of recurrent systemic thromboembolism or hyperthyroidism.
Conclusions:
Early recognition and appropriate treatment of PTE combined with transient thyrotoxicosis were vital to preventing other complications.
Acute intestinal obstruction secondary to left paraduodenal hernia: a case report and literature review
Authors: Waleed Al-Khyatt, Smeer Aggarwal, James Birchall, Tomothy E Rowlands
Journal: World J Emerg Surg (2013)

Introduction:
An internal hernia is a protrusion of bowel through a normal or abnormal orifice in the peritoneum or mesentery. Although they are considered as a rare cause of intestinal obstruction, paraduodenal hernias are the most common type of congenital hernias.
Methods:
A literature search using PubMed was performed to identify all published cases of left paraduodenal hernia (LPDH).
Results:
In Literature search between 1980 and 2012 using PubMed revealed only 44 case reports before the present one. Median age was 47 years (range 18 - 82 years). Nearly 50% reported previous mild symptoms. Two-third of patients required emergency surgery in form of laparotomy or laparoscopic repair. Reduction of hernia contents with widening or suture repair of the hernia orifice were the most common standards in surgical management of LPDH.
Conclusion:
Intestinal obstruction secondary to internal hernias is a rare presentation. High index of suspicion and preoperative imaging are essential to make an early diagnosis in order to improve outcome.
Cleidocranial Dysplasia Causing Respiratory Distress in Neonates: A Case Report and Literature Review
Authors: Ru Xue, Guoqing Zhang, Xiafang Chen, Xiuxia Ye
Journal: Front Genet (2021)
Keywords: runx2, cleidocranial dysplasia, mutation, neonate, respiratory distress
MeSH terms: Case Reports

Cleidocranial dysplasia (CCD; OMIM 119600) is a rare autosomal dominant skeletal dysplasia, which is mainly characterized by persistently open or delayed closure of fontanelle, patent skull sutures, abnormal clavicles, pectus excavatum, short stature, supernumerary teeth, and sinus and middle ear infections. It is caused by Runt-related transcription factor 2 (RUNX2; OMIM 600211) mutations. Herein, we present a rare case of CCD with neonatal respiratory distress, who had abnormal midfacial features and wide fontanelle. Also, pectus excavatum was noted. He was transferred to our department, administered standard medical treatment, and discharged after 4 weeks. Therefore, we recommend the early suspicion and identification of this rare inherited disease to adequate treatment.
Congenital Extra-Ventricular (Ganglio)Neurocytoma of the Brain Stem: A Case Report
Authors: Marta Piras, Evelina Miele, Angela Di Giannatale, Giovanna S Colafati, Francesca Diomedi-Camassei, Maria Vinci, Emmanuel de Billy, Angela Mastronuzzi, Andrea Carai
Journal: Front Pediatr (2018)
Keywords: (ganglio)neurocytoma, brain tumor, brainstem, extraventricular neurocytoma, pediatric
MeSH terms: Case Reports

Extraventricular neurocytoma (EVN) is an extremely rare tumor of neuroglial origin with a tendency toward ganglionic or glial differentiation. In the 2016 World Health Organization Classification, EVN was classified as a grade II tumor and described as a neoplasm with good outcome. However, the presence of cellular atypia is an important unfavorable prognostic factor. Here, we describe the first case of a patient with a congenital EVN localized in the brainstem. After a sub-total resection, his disease rapidly progressed despite several chemotherapies, including molecular targeting approaches. He died 13 months after diagnosis. In conclusion, we report an atypical case of EVN presenting an extremely aggressive behavior, despite the absence of cellular atypia. The brainstem origin and the age of the patient may have represented two important prognostic factors for our patient.
Survival prognosis and variable selection: A case study for metastatic castrate resistant prostate cancer patients
Authors: Søren Wengel Mogensen, Anne H Petersen, Ann-Sophie Buchardt, Niels Richard Hansen
Journal: F1000Res (2016)
Keywords: generalized additive models, imputation, lasso, stability selection, survival forests, survival prognostic models

Survival prognosis is challenging, and accurate prediction of individual survival times is often very difficult. Better statistical methodology and more data can help improve the prognostic models, but it is important that methods and data usages are evaluated properly. The Prostate Cancer DREAM Challenge offered a framework for training and blinded validation of prognostic models using a large and rich dataset on patients diagnosed with metastatic castrate resistant prostate cancer. Using the Prostate Cancer DREAM Challenge data we investigated and compared an array of methods combining imputation techniques of missing values for prognostic variables with tree-based and lasso-based variable selection and model fitting methods. The benchmark metric used was integrated AUC (iAUC), and all methods were benchmarked using cross-validation on the training data as well as via the blinded validation. We found that survival forests without prior variable selection achieved the best overall performance (cv-iAUC = 0.70, validation-iACU = 0.78), while a generalized additive model was best among those methods that used explicit prior variable selection (cv-iAUC = 0.69, validation-iACU = 0.76). Our findings largely concurred with previous results in terms of the choice of important prognostic variables, though we did not find the level of prostate specific antigen to have prognostic value given the other variables included in the data.
Mcleod syndrome: Report of an Indian family with phenotypic heterogeneity
Authors: Ambar Chakravarty, P Bhattacharya, D Banerjee, S Mukherjee
Journal: Ann Indian Acad Neurol (2011)
Keywords: anterior horn cell, mcleod syndrome, xk gene
MeSH terms: Case Reports

The present report deals with the clinical phenomenology of three members (brothers) of one family with McLeod syndrome (MLS). In two, the clinical pictures were of choreiform disorders with amyotrophy, which were found to be neurogenic in origin by detailed electrophysiological study. The index case had peripheral acanthocytosis; immunohematological and molecular genetic studies confirmed diagnosis of MLS. However, one brother only had a slowly progressive motor neuron disease like picture but no abnormal movement disorder. He had peripheral acanthocytes as well. The inheritance seems to be X-linked recessive in nature. The affected family members exhibited much phenotypic heterogeneity. This appears to be the first report of MLS from India.
Intra-arterial Thrombolysis for Postoperative Digital Ischemia: A Case Report
Authors: Johnny I Efanov, Andrei Odobescu, Marie-France Giroux, Patrick G Harris, Michel A Danino
Journal: Eplasty (2014)
Keywords: digital ischemia, iatrogenic, intimal injury, subacute, thrombolysis
MeSH terms: Case Reports

Objective:
Surgical repair of digital flexion deformities can result in vascular injuries threatening the viability of the affected digit. While uncommon, these injuries are reported to have a rate as high as 0.8% following palmo-digital fasciectomy for Dupuytren's disease. Late presentation of such vascular events pose a challenge, since taking the patient to the operating room does not guarantee success.
Methods:
We report a case of subacute digital ischemia that presented 10 days following correction of a boutonniere deformity treated with intra-arterial thrombolysis. There were no particular intraoperative complications. The thrombolytic regimen consisted of Alteplase (Roche, Mississauga, Canada) 2 mg bolus and 1 mg per hour (total 30 mg received over 28 hours) and intravenous heparin with a subtherapeutic target partial thromboplastin time of 40 to 50 seconds.
Results:
Thirty hours after the initiation of thrombolysis, an angiography confirmed complete reperfusion of the digital arteries at the distal interphalangeal joint that correlated with the clinical appearance of the digit. Thrombolysis was interrupted and therapeutic intravenous heparin was maintained. Bridging to warfarin was started 6 days postthrombolysis with a target international normalized ratio of 2 to 3. Unfortunately, she was weaned from the heparin while her international normalized ratio was not yet in the therapeutic range and the vessels rethrombosed. This was confirmed by angiography, and intra-arterial thrombolysis was performed with successful revascularization. The patient was restarted on therapeutic dose of heparin and carefully bridged to Coumadin.
Conclusions:
For traction injuries, thrombolytic therapy can be a viable option although we should keep in mind that it could provoke severe adverse events.
Single Visit Apexification Procedure of a Traumatically Injured Tooth with a Novel Bioinductive Material (Biodentine)
Authors: Navroop Kaur Bajwa, Mahesh Madhukar Jingarwar, Anuradha Pathak
Journal: Int J Clin Pediatr Dent (2015)
Keywords: biodentine, case report, single-visit apexification
MeSH terms: Case Reports

Aim of this article is to present a case wherein single visit apexification of a traumatically injured tooth was done with a bioactive material-Biodentine. An injury sustained between the ages of 6 and 14 can adversely affect pulpal health and interrupt root development. In these instances, apexification is generally the preferred treatment. A 10 years old male patient presented with coronal fracture of the left upper central incisor. Clinical and radiographic assessment showed negative pulpal sensibility and arrested apical root development. Artificial apical barrier induction with Biodentine followed by endodontic treatment and prosthetic rehabilitation was decided as the line of treatment. To conclude, this bioactive and biocompatible calcium-based cement can regenerate damaged dental tissues and represents a promising alternative to the conventional multivisit apexification technique.
Clinical significance:
Biodentine which is a biologically active cement can be an efficient alternative to the conventional apexification materials which were hitherto recommended. How to cite this article: Bajwa NK, Jingarwar MM, Pathak A. Single Visit Apexification Procedure of a Traumatically Injured Tooth with a Novel Bioinductive Material (Biodentine). Int J Clin Pediatr Dent 2015;8(1):58-61.
The Big Yawning: Pathological Yawning as a Symptom of Neuromyelitis Optica Spectrum Disorders
Authors: Veronika Spahlinger, Annette Niessen, Sebastian Rauer, Stefan Krämer, Matthias Reinhard
Journal: Case Rep Neurol Med (2019)
MeSH terms: Case Reports

Pathological yawning is rarely observed in cerebral or spinal diseases. A 67-year-old woman was admitted with a seven-day progressive hemisyndrome with left-sided limb ataxia and hypesthesia. The patient yawned with a high frequency, partially in salve-like episodes. MRI showed a cervical myelitis over more than three vertebral segments up to the lower medulla and Aquaporin-4-antibodies were positive (diagnostic criteria for a Neuromyelitis optica spectrum disorder were fulfilled). Under treatment with methylprednisolone, followed by plasmapheresis and immunoadsorption, clinical symptoms were regressive and the frequency of yawning completely normalized. When observing pathological yawning, even in the absence of other cerebral or brainstem symptoms, one should be aware of NMOSD as a possible cause.