OpenMed/multicare-articles huggingface dataset:
Case Report, Practices Survey and Literature Review of an Under-Recognized Pediatric Vascular Disorder: The BASCULE Syndrome
Authors: Natacha Baurens, Clémence Briand, Lisa Giovannini-Chami, Jean-Marie De Guillebon De Resnes, Thomas Hubiche, Christine Chiaverini, Pascal Giordana, Georges Leftheriotis, Julie Bernardor
Journal: Front Pediatr (2022)
Keywords: bascule syndrome, pots, acrosyndrome, children, orthostatic intolerance
MeSH terms: Case Reports

Introduction:
Bier anemic spots, cyanosis, and urticaria-like eruption (BASCULE) syndrome is an underreported pediatric vascular disorder from the group of acrosyndromes. In children, these include paroxysmal acrosyndromes (Raynaud's phenomenon and chilblain-like lesions), permanent acrosyndromes (acrocyanosis), and transient acrosyndromes, in which their pathogeneses are associated with virus infections, Epstein-Barr virus, and, more recently, SARS-CoV-2, respectively.
Methods:
We reported a case of BASCULE syndrome associated with postural orthostatic tachycardia syndrome (POTS) and provided a narrative review of case reports describing the BASCULE syndrome in children. Moreover, we presented the results of a prospective practice survey that we performed in the French medical community.
Results:
A 14-years-old boy reported pruritic erythrocyanic lesions on the lower limbs, which occurred whenever he was in a standing position and fully resolved when he laid down. He reported asthenia and cramps. He presented a typical BASCULE syndrome associated with POTS confirmed by a tilt-test. Physical and vascular examinations were within the normal range. We identified 12 case reports, describing 21 pediatric cases since 2016. Most patients were adolescents between 12 and 19 years of age or were newborns. Furthermore, 20% of cases in the literature have presented POTS or orthostatic intolerance. Our survey among 95 French physicians confirmed that BASCULE syndrome is an underdiagnosed and under recognized disease in the general pediatric practice, at least in France. Among these physicians, 65% had already encountered patients with similar symptoms, but only 30% declared that they had knowledge of the BASCULE syndrome.
Conclusion:
The under-recognition of the clinical manifestations leads the patients to consult emergency rooms, with multiple unnecessary investigations performed. Therefore, we suggest that the diagnosis of BASCULE syndrome is based on clinical observations, without the need for laboratory tests, to avoid unnecessary health costs. We suggest physicians to perform a tilt-test when POTS is suspected.
Conservative esthetic management of post orthodontic treatment discolored tooth with calcified canal: a case report
Authors: Muhammad Qasim Javed, Sumyya Saleh, Hamza Ulfat
Journal: Pan Afr Med J (2020)
Keywords: calcific metamorphosis, case report, pulp canal obliteration, root canal
MeSH terms: Dental Pulp Cavity / pathology, Root Canal Therapy / methods, Tooth Bleaching, Tooth Discoloration / therapy, Case Reports, Female, Humans, Incisor, Orthodontics, Tooth Discoloration / etiology, Young Adult

A case of pulp canal obliteration (PCO) two years after the completion of orthodontic treatment is presented. Post orthodontic treatment PCO is a rare finding. A 23 years old female presented with the discoloration of clinical crown of maxillary right central incisor. Radiographic examination revealed the calcified canal and diffused periapical radiolucency. Vitality tests were negative. A decision was made to do root canal treatment followed by the walking bleaching. After the successful completion of the root canal treatment the internal bleaching was performed. The discolored tooth showed significant improvement in color. Internal bleaching is a viable conservative treatment for improving esthetics in single non vital discolored tooth.
Renal Abscess Caused by Extended-Spectrum Beta-Lactamase-Producing Bacteria and Complicated by the Perforation to a Cyst and to the Renal Pelvis
Authors: Jan Novak, Viktor Vik, Roman Zachoval, Truls Erik Bjerklund Johansen
Journal: J Endourol Case Rep (2016)
MeSH terms: Case Reports

We report a 50-year-old female patient with a left-sided renal abscess caused by extended-spectrum β-lactamase-producing bacteria. According to the ORENUC classification she had phenotype N. The course was complicated by a perforation to an adjacent cyst and later to the renal pelvis. A primarily conservative approach of intravenous antibiotics had to be changed to an ultrasonography-guided percutaneous drainage of the lesion and insertion of a ureteral stent to stem a high volume of urine leakage. Drainage of a renal abscess is indicated if the size is larger than 3 cm according to EAU guidelines (relative size) or when the resolution does not occur after antibiotics. One-year follow-up showed the patient made a full recovery with no recurrence of a urinary tract infection or of any abscess.
An interstitial 20q11.21 microdeletion causing mild intellectual disability and facial dysmorphisms
Authors: Ivan Y Iourov, Svetlana G Vorsanova, Oxana S Kurinnaia, Yuri B Yurov
Journal: Case Rep Genet (2013)

We report a case of an interstitial chromosome 20q11.21 microdeletion in a 7-year-old male child presenting with mild intellectual disability and facial dysmorphisms. Array comparative genomic hybridization (CGH) has shown that the deletion resulted in the loss of 68 genes, among which 5 genes (COX4I2, MYLK2, ASXL1, DNMT3B, and SNTA1) are disease causing. The size of the deletion was estimated to span 2.6 Mb. Only three cases of deletions encompassing this chromosomal region have been reported. The phenotype of the index patient was found to resemble the mildest cases of Bohring-Opitz syndrome that is caused by ASXL1 mutations. An in silico evaluation of the deleted genomic region has shown that benign genomic variations have never been observed to affect the ASXL1 gene, in contrast to the other disease-causing genes. As a result, it was suggested that ASXL1 loss is likely to be the main cause of the phenotypic manifestations. The present case report indicates that a loss of the disease-causing gene can produce a milder phenotype of a single gene condition.
Fallopian tube herniation: an unusual complication of surgical drain
Authors: Lipi Sharma, Alpana Singh, Sruthi Bhaskaran, A G Radhika, Gita Radhakrishnan
Journal: Case Rep Obstet Gynecol (2012)

Background. Surgical drains have been used since time immemorial, but their use is not without complications. By presenting this case we aim to describe an uncommon complication of herniation of fallopian tube following the simple procedure of surgical drain removal. Case Presentation. This case describes a 23-year G2P1L1 who underwent an emergency cesarean section for obstructed labor with intraperitoneal drain insertion. The patient had an uneventful postoperative period, drain was removed on day 4, and she was discharged. She presented on day 8 with the complaint of soakage of drain site dressing. On examination an edematous, tubular structure with early sign of necrosis was seen coming out of drain site and a provisional diagnosis of appendix herniation was made. On emergency laparotomy fallopian tube was seen coming out through the drain site and salphingectomy was done. Conclusion. Drains are not a substitute for good surgical technique. Although herniation of intestine, omentum, appendix, gall bladder, and ovary have been reported, we could not find any case of fallopian tube herniation in the literature searched by us.
Case report: A rare case of tumor-to-tumor metastasis: metastatic lobular breast carcinoma to clear cell renal cell carcinoma
Authors: Letian Zhang, Pei Yuan, Qi Cao, Jiali Mu, Jianming Ying, Changyuan Guo
Journal: Pathol Oncol Res (2023)
Keywords: breast cancer, clear cell renal cell carcinoma, metastatic lobular breast carcinoma, rare case, tumor-to-tumor metastasis
MeSH terms: Breast Neoplasms / pathology, Carcinoma, Lobular / pathology, Carcinoma, Renal Cell / pathology, Carcinoma, Renal Cell / surgery, Kidney Neoplasms / pathology, Neoplasms, Second Primary, Case Reports, Aged, Female, Humans

Tumor-to-tumor metastasis is a rare phenomenon. Although renal cell carcinoma is the most common recipient tumor, metastatic lobular breast carcinoma to clear cell renal cell carcinoma is even rarer, with only one case reported to date. We present a 66-year-old female patient with an invasive lobular carcinoma history who was admitted to the hospital with a right renal mass. The patient received partial nephrectomy. The final established diagnosis is lobular breast carcinoma metastasizing to clear cell renal cell carcinoma (ccRCC). Thus, although rare, the simultaneous or consecutive find of a renal mass in follow-up should be carefully evaluated, especially in high-risk patients, including women with an advanced breast cancer history, as in this scenario.
Anomalous Origin of the Right Coronary Artery Causing Myocardial Ischemia: A Case for a Multimodality Imaging Approach
Authors: Fatimah A Alkhunaizi, Karan Kapoor, Vincent Pallazola, Edward P Shapiro, Peter V Johnston, Joban Vaishnav, Nisha A Gilotra, Ahmet Kilic, Rosanne Rouf
Journal: Case Rep Cardiol (2021)
MeSH terms: Case Reports

A 46-year-old man was admitted with non-ST elevation myocardial infarction and newly diagnosed acutely decompensated heart failure. Echocardiogram demonstrated left ventricular ejection fraction of 30% with basal inferior and inferolateral akinesis. Coronary angiography showed mild diffuse coronary artery disease and an anomalous right coronary artery arising from the left coronary cusp. Further imaging was consistent with ischemia in the right coronary distribution. Etiology of ischemia was thought to be the anomalous right coronary artery, and surgical unroofing of the right coronary ostium was performed. Here, we report a multimodality imaging approach, including cardiac magnetic resonance, cardiac computed tomographic angiography, and single-photon emission computed tomography, to support the diagnosis and management of a patient with anomalous right coronary artery arising from the left coronary cusp.
A New Transalveolar Sinus Lift Procedure for Single Implant Placement: The Ebanist Technique. A Technical Description and Case Series
Authors: Rosario Rizzo, Vittorio Checchi, Federico Marsili, Antonio Zani, Serena Incerti-Parenti, Luigi Checchi
Journal: Open Dent J (2017)
Keywords: bone graft, bone resorption, case report, case series, extraoral implant placement, fresh mineralized frozen homologous bone, sinus lift

Background:
Nowadays, there are many techniques to compensate bone atrophies of the posterior maxilla in order to obtain an implant-supported rehabilitation.
Objective:
This case series describes the Ebanist technique: a sinus lift procedure to be used in case of extremely resorbed bone crests (≤3 mm) allowing simultaneous implant placement.
Methods:
With a dedicated cylindrical trephine bur, it is possible to harvest a cylinder of bone from a fresh mineralized frozen homologous bone block graft and to simultaneously create a trapdoor on the recipient site. The trapdoor cortical bone is detached from the sinus membrane and removed. Dental implant is placed into the graft before the grafting procedure since the cylindrical block, once inserted in the recipient area, is not able to oppose sufficient resistance to the torque needed for implant placement.
Results:
Second-stage surgery and following prosthetic rehabilitation were performed after 5 months. In all cases, implant stability was manually checked and no pathological symptoms or signs were recovered at any follow-up visit.
Conclusion:
This technique can be considered a valid procedure for implant therapy on atrophic posterior upper maxillae, when the residual bone crest is extremely resorbed.
Large Tracheocutaneous Fistula Successfully Treated With Bronchoscopic Intervention and Flap Grafting: A Case Report and Literature Review
Authors: He-Huan Li, Ning Zhao, Jing-Wen Lu, Ru-Rong Tang, Chao-Nan Liang, Gang Hou
Journal: Front Med (Lausanne) (2020)
Keywords: airway stent, bronchoscopy, degradable materials, flap grafting, tracheocutaneous fistula
MeSH terms: Case Reports

Tracheocutaneous fistula (TCF) is the most common related post-operative complication after tracheotomy. Treatments such as surgery and flap grafting are usually applied to close TCFs. We report a case of a large TCF with an area of ~3.0 cm × 1.0 cm. Here, we describe a relatively convenient approach for the management of a patient with a large TCF. In our treatment strategy, a coverd tracheal stent was used to cover the defect by bronchoscopy, the bronchial defect was closed with a local turnover flap, the structure was reinforced with biodegradable material (RapidSorb Plate 2.0), and then transplantation of a deltopectoral flap was performed. It is worth noting that the patency of the trachea was maintained during the whole surgery course. No recurrence or complications occurred after the 12-month follow-up. The large TCF was successfully treated with bronchoscopic intervention, biodegradable material and flap grafting, and without cartilage grafting.
A Novel STAT3 Gain-of-Function Mutation in Fatal Infancy-Onset Interstitial Lung Disease
Authors: Mengyue Deng, Yue Li, Yulu Li, Xiaolan Mao, Han Ke, Weiling Liang, Xiaoguang Lei, Yu-Lung Lau, Huawei Mao
Journal: Front Immunol (2022)
Keywords: jak inhibitor, stat3, stat3 inhibitor, autoimmune disease, gain-of-function mutation, interstitial lung disease
MeSH terms: Gain of Function Mutation, Lung Diseases, Interstitial / diagnosis, Lung Diseases, Interstitial / genetics, STAT3 Transcription Factor / genetics, Case Reports, Research Support, Non-U.S. Gov't, Autoimmunity, Humans, Infant, Mutation, STAT3 Transcription Factor, STAT3 protein, human

Signal transducer and activator of transcription 3 (STAT3) gain-of-function (GOF) mutations cause early-onset immune dysregulation syndrome, characterized by multi-organ autoimmunity and lymphoproliferation. Of them, interstitial lung disease (ILD) usually develops after the involvement of other organs, and the onset time is childhood and beyond rather than infancy. Here, we reported a patient who presented with fatal infancy-onset ILD, finally succumbing to death. Next-generation sequencing identified a novel heterozygous mutation in STAT3 (c.989C>G, p.P330R). Functional experiments revealed it was a gain-of-function mutation. Upon interleukin 6 stimulation, this mutation caused a much higher activation of STAT3 than the wild-type control. In addition, the mutation also activated STAT3 under the steady state. The T helper 17 cell level in the patient was significantly higher than that in normal controls, which may contribute to the autoimmune pathology caused by the STAT3P330R mutation. Apart from Janus kinase (JAK) inhibitors, we also provided experimental evidence of a STAT3 selective inhibitor (Stattic) effectively suppressing the activation of mutant STAT3 in vitro. Collectively, our study expanded the clinical spectrum of STAT3 GOF syndrome. STAT3 GOF mutation appears as a new etiology of ILD and should be considered in patients with early-onset ILDs. In addition to JAK inhibitors, the specific STAT3 inhibitor would be an appealing option for the targeted treatment.
Cognitive behavioral treatment to improve adherence to hemodialysis fluid restrictions: a case report
Authors: Heather M Anson, Michelle R Byrd, Ellen I Koch
Journal: Case Rep Med (2009)
MeSH terms: Case Reports

This case report describes outpatient psychological treatment targeting adherence to fluid restrictions in a hemodialysis patient. The consequences of nonadherence to fluid restrictions in hemodialysis patients range from minor discomfort to increased hospitalizations and mortality rates. In addition, when patients chronically fail to adhere, they may no longer be candidates for kidney transplant. The interventions focused on polydipsia, characterized by excessive fluid intake. The methods involved 11-sessions of individual psychotherapy incorporating strategies including increasing awareness, decreasing motivation, increasing effort, engaging in competing events, conducting thought stopping, breaking repetitive routines, eliciting social support, and receiving reinforcement. Results demonstrated that the patient successfully restricted his fluid intake at or below recommended levels 83% of days after fading of treatment began. This case report demonstrates the success of cognitive behavioral treatment strategies with a nonpsychiatric hemodialysis patient.
Postoperative Pulmonary Edema Conundrum: A Case of Negative Pressure Pulmonary Edema
Authors: Pramod K Guru, Anjali Agarwal, Mario Pimentel, Diane C McLaughlin, Vikas Bansal
Journal: Case Rep Crit Care (2018)
MeSH terms: Case Reports

Postobstructive pulmonary edema (POPE) also known as negative pressure pulmonary edema (NPPE) is an underdiagnosed entity in clinical practice and can lead to life-threatening hypoxemia. A 64-year-old male patient's perioperative course was complicated by acute hypoxemic respiratory failure, after extubation following general anesthesia, following the excision of the right vocal cord papilloma. His chest X-ray showed features of pulmonary edema, EKG showed dynamic ST-T changes in the lateral leads, and echocardiography showed evidence of regional motion abnormalities. His coronaries were normal on the immediate angiogram. He was managed with lung protective mechanical ventilation strategy, diuretics, and fluid restriction. His respiratory status improved, and trachea was extubated after 10 hours of intensive care unit (ICU) stay. The case illustrates the various differentials of immediate postoperative flash pulmonary edema and ensuing appropriate management strategy.
An unusual case of infective spondylodiscitis caused by Campylobacter fetus subsp. fetus: molecular characterization by whole-genome sequencing
Authors: Dhiviya Prabaa Ms, Jaya Lakshmi Ss, John Antony Jude Prakash, Kenny S David, Vijay Alagar, Balaji Veeraraghavan
Journal: Access Microbiol (2021)
Keywords: c fetus, maldi-tof, mri, spondylodiscitis, whole-genome sequencing
MeSH terms: Case Reports

Spondylodiscitis is an infectious inflammation that affects the intervertebral disc and adjacent structures. Treating infective spondylodiscitis is often challenging due to the lack of specific symptoms. Here we present an unusual case of infective spondylodiscitis caused by Campylobacter fetus subsp. fetus.
Hepatitis B-related hepatocellular carcinoma in a 36-year-old pregnant woman: prognosis and management dilemma
Authors: Bruce Shinga Wembulua, Kalilou Diallo, Mame Aïsse Thioubou, Jean Didier Bosenge Nguma, Noel Magloire Manga
Journal: Pan Afr Med J (2020)
Keywords: chronic hepatitis b infection, hepatocellular carcinoma, pregnancy
MeSH terms: Carcinoma, Hepatocellular / diagnosis, Carcinoma, Hepatocellular / therapy, Carcinoma, Hepatocellular / virology, Hepatitis B / complications, Hepatitis B / diagnosis, Hepatitis B / therapy, Hepatitis B / transmission, Liver Neoplasms / diagnosis, Liver Neoplasms / therapy, Liver Neoplasms / virology, Case Reports, Adult, Cesarean Section, Fatal Outcome, Female, Humans, Infant, Newborn, Liver Failure / diagnosis, Liver Failure / etiology, Liver Failure / therapy, Maternal Death, Pregnancy, Pregnancy Complications, Infectious / diagnosis, Pregnancy Complications, Infectious / therapy, Pregnancy Complications, Neoplastic / diagnosis, Pregnancy Complications, Neoplastic / therapy, Pregnancy Complications, Neoplastic / virology, Prognosis

Management of chronic hepatitis B infection complicated by hepatocellular carcinoma (HCC) in pregnancy poses a treatment dilemma as the pregnancy accelerates disease progression and narrows the diagnostic tools and therapeutic choices. Studies have reported higher maternal and fetal losses. We share our experience with a 36-year-old pregnant woman who presented at 35 weeks' gestation with a large painful nodular liver and significant weight loss. She tested HBsAg-positive and had both clinical and laboratory features of severe liver decompensation. The abdominal ultrasound rightly described HCC on a cirrhotic background. The fetus was delivered by cesarean section but the mother died soon after.
Gaining Longitudinal Accounts of Carers' Experiences Using IPA and Photograph Elicitation
Authors: Val Morrison, Karina Williams
Journal: Front Psychol (2020)
Keywords: caregiver accounts, caregivers outcomes, longitudinal, motivations to care, qualitative methods, willingness to care

Fluctuations in positive and negative caregiving experiences remain only partially explained as the significant variability over time of potential predictive factors themselves is understudied. The current study aims to gain considerable insight into caregiving experiences and perceptions over time by using photovoice methodology to support semi-structured interviews. A case study, longitudinal design is taken with three female caregivers who provide detailed insight into their caregivers' experiences over a 12 month period. The interview transcripts were analyzed using IPA- Interpretative Phenomenological Analysis. This innovative combination of methods resulted in the emergence of three related themes which included consuming the role, feeling consumed by the role, and letting go of the role. The idiographic approach taken allowed both within case differences to be examined over time, and also between carer differences to be highlighted. Implications of illness type and its characteristics, and of attachment and relationship quality with the care recipient were seen in terms of how and when the caregivers moved between the themes identified. The use of others' support or respite care is examined vis-a vis caregiver's own beliefs, emotions, relationship attachment and motivations to care. Caregivers self-efficacy beliefs also shifted over time and were influential in caregiver experience as the care recipient condition or needs changed. No previous studies have found that negative caregiving consequences are, in part, under volitional control and yet our data on the underlying reasons for consuming caregiving or allowing themselves to consume, would suggest this may in part be true. This is important because it suggests that interventions to support caregivers should address relational and motivational factors more fully.
Atorvastatin-induced acute pancreatitis
Authors: Prasanna R Deshpande, Kanav Khera, Girish Thunga, Manjunath Hande, Siddalingana T G Gouda, Anantha Naik Nagappa
Journal: J Pharmacol Pharmacother (2011)
Keywords: acute pancreatitis, atorvastatin, case report
MeSH terms: Case Reports

Atorvastatin-induced acute pancreatitis (AP) is one of the rare adverse effects available in the literature. We report a case of 53-year-old patient developed AP after treatment with atorvastatin monotherapy which resolved after drug withdrawal. Extensive workup on AP failed to reveal any other etiology for it. To our knowledge, this is one of the rare case reports of AP caused due to atorvastatin monotherapy and it further strengthens the fact that statins may cause AP. There is need of continued reporting of such a rare adverse effect of atorvastatin for increasing awareness and to manage and avoid the same.
Occipital lymph node metastasis from nasopharyngeal carcinoma: a special case report and literature review
Authors: Jing Yang, Wei-Xiong Xia, Yan-Qun Xiang, Xing Lv, Liang-Ru Ke, Ya-Hui Yu, Xiang Guo
Journal: Chin J Cancer (2016)
MeSH terms: Nasopharyngeal Neoplasms / pathology, Occipital Lobe / diagnostic imaging, Occipital Lobe / pathology, Case Reports, Review, Carcinoma, Humans, Lost to Follow-Up, Lymphatic Metastasis, Male, Nasopharyngeal Carcinoma, Young Adult

Cervical lymph node metastasis is common in patients with nasopharyngeal carcinoma (NPC), but occipital lymph node metastasis in NPC patients has not yet been reported. In this case report, we describe an NPC patient with occipital lymph node metastasis. The clinical presentation, diagnostic procedure, treatment, and outcome of this case were presented, with a review of the related literature.